Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
ACSL1	2180	broad.mit.edu	37	4	185691476	185691476	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr4:185691476G>A	uc003iww.2	-	10	1220	c.926C>T	c.(925-927)cCc>cTc	p.P309L	ACSL1_uc011ckm.1_Intron|ACSL1_uc003iwt.1_Intron|ACSL1_uc003iwu.1_Intron|ACSL1_uc011ckn.1_Intron|ACSL1_uc010ise.1_Intron	NM_001995	NP_001986	P33121	ACSL1_HUMAN	Homo sapiens acyl-CoA synthetase long-chain family member 1 (ACSL1), mRNA.	309					digestion|fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|regulation of fatty acid oxidation|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(17)|ovary(2)|prostate(1)|skin(2)	38		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146)		all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419)	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	GGCACTCAAGGGAAGTGCTTT	0.393000														11			8		0	0	1	0	0
AKR1C3	8644	broad.mit.edu	37	10	5147813	5147813	+	Missense_Mutation	SNP	G	C	C			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr10:5147813G>C	uc001ihr.3	+	7	1056	c.873G>C	c.(871-873)gaG>gaC	p.E291D	AKR1C3_uc021pml.1_Missense_Mutation_p.E291D|AKR1C3_uc010qap.2_Missense_Mutation_p.E268D|AKR1C3_uc001ihu.3_Missense_Mutation_p.E291D	NM_003739	NP_003730	P42330	AK1C3_HUMAN	Homo sapiens aldo-keto reductase family 1, member C3 (3-alpha hydroxysteroid dehydrogenase, type II) (AKR1C3), transcript variant 1, mRNA.	291					prostaglandin metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|androsterone dehydrogenase (A-specific) activity|indanol dehydrogenase activity|prostaglandin-F synthase activity|testosterone 17-beta-dehydrogenase (NAD+) activity|testosterone 17-beta-dehydrogenase (NADP+) activity|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|skin(1)	14					Dimethyl sulfoxide(DB01093)|NADH(DB00157)	TGACTGCAGAGGACATGAAAG	0.348000														8			7		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82585473	82585473	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr7:82585473C>T	uc003uhx.2	-	4	5085	c.4796G>A	c.(4795-4797)gGa>gAa	p.G1599E	PCLO_uc003uhv.2_Missense_Mutation_p.G1599E	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	1530					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TTTGCCTTTTCCCTTTGTTTC	0.428000														80			65		0	0	1	0	0
CTPS2	56474	broad.mit.edu	37	X	16711336	16711337	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chrX:16711336_16711337GG>AA	uc004cxk.3	-	5	1310_1311	c.566_567CC>TT	c.(565-567)acc>aTT	p.T189I	CTPS2_uc004cxl.3_Missense_Mutation_p.T189I|CTPS2_uc004cxm.3_Missense_Mutation_p.T189I	NM_001144002	NP_787055	Q9NRF8	PYRG2_HUMAN	Homo sapiens CTP synthase II (CTPS2), transcript variant 3, mRNA.	189					glutamine metabolic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine nucleotide biosynthetic process	cytosol	ATP binding|CTP synthase activity			breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Hepatocellular(33;0.0997)					TTTGTTCTCCGGTAGCACTGAG	0.500000														4			52		0	0	1	0	0
CSNK1E	1454	broad.mit.edu	37	22	38696915	38696915	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr22:38696915G>A	uc003avj.3	-	4	640	c.379C>T	c.(379-381)Cgg>Tgg	p.R127W	CSNK1E_uc003avk.3_Missense_Mutation_p.R127W|CSNK1E_uc003avm.2_Missense_Mutation_p.R127W	NM_152221	NP_689407	P49674	KC1E_HUMAN	Homo sapiens casein kinase 1, epsilon (CSNK1E), transcript variant 1, mRNA.	127	Protein kinase.				DNA repair|G2/M transition of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|signal transduction	cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22	Melanoma(58;0.045)					TTGACGTCCCGGTGGATGAAG	0.602000														12			103		0	0	1	0	0
AKAP9	10142	broad.mit.edu	37	7	91632203	91632203	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr7:91632203C>T	uc003ulg.3	+	7	3197	c.2972C>T	c.(2971-2973)tCa>tTa	p.S991L	AKAP9_uc003ule.2_Missense_Mutation_p.S1003L|AKAP9_uc003ulf.3_Missense_Mutation_p.S991L|AKAP9_uc003uli.3_Missense_Mutation_p.S616L	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	Homo sapiens A kinase (PRKA) anchor protein (yotiao) 9 (AKAP9), transcript variant 2, mRNA.	1003	Glu-rich.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	Golgi apparatus|centrosome|cytosol	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			GAACAAGTTTCATTGAGATGT	0.333000			T	BRAF	papillary thyroid									47			37		0	0	1	0	0
SERPINH1	871	broad.mit.edu	37	11	75279845	75279845	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr11:75279845C>T	uc001owr.3	+	2	990	c.692C>T	c.(691-693)aCc>aTc	p.T231I	SERPINH1_uc009yuf.3_Missense_Mutation_p.T231I|SERPINH1_uc009yug.3_Missense_Mutation_p.T231I|SERPINH1_uc001ows.3_Missense_Mutation_p.T231I|SERPINH1_uc001owt.3_Missense_Mutation_p.T14I	NM_001235	NP_001226	P50454	SERPH_HUMAN	Homo sapiens serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1) (SERPINH1), transcript variant 2, mRNA.	231					regulation of proteolysis|response to unfolded protein	ER-Golgi intermediate compartment|endoplasmic reticulum lumen	collagen binding|serine-type endopeptidase inhibitor activity	p.T231T(1)		endometrium(4)|large_intestine(3)|liver(1)|lung(4)|ovary(2)|stomach(1)	15	Ovarian(111;0.11)					CGGTCCTATACCGTGGGTGTC	0.567000														63			49		0	0	1	0	0
LNX1	84708	broad.mit.edu	37	4	54343060	54343060	+	Silent	SNP	C	G	G			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr4:54343060C>G	uc003hag.4	-	8	2008	c.1752G>C	c.(1750-1752)tcG>tcC	p.S584S	PDGFRA_uc003haa.3_Intron|LNX1_uc003haf.4_Silent_p.S488S|LNX1_uc003hah.4_Non-coding_Transcript	NM_001126328	NP_001119800	Q8TBB1	LNX1_HUMAN	Homo sapiens ligand of numb-protein X 1 (LNX1), transcript variant 1, mRNA.	584	PDZ 3.					cytoplasm	zinc ion binding	p.S488S(1)|p.S584S(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|endometrium(3)|large_intestine(11)|lung(6)|ovary(3)|urinary_tract(4)	32	all_neural(26;0.153)		GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134)			TGAGTACTATCGAGGATGATG	0.522000														118			115		0	0	1	0	0
C17orf51	339263	broad.mit.edu	37	17	21476991	21476991	+	RNA	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr17:21476991C>T	uc002gyx.1	-	1		c.237G>A						A8MQB3	CQ051_HUMAN	Homo sapiens chromosome 17 open reading frame 51 (C17orf51), mRNA.											endometrium(1)	1						GAGTGTGGTCCTCTTGATCCT	0.577000														6			5		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82544604	82544604	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr7:82544604C>T	uc003uhx.2	-	6	12987	c.12698G>A	c.(12697-12699)aGg>aAg	p.R4233K	PCLO_uc003uhv.2_Missense_Mutation_p.R4233K|PCLO_uc010lec.3_Missense_Mutation_p.R1198K	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	4164	Ser-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GAGCCTTGCCCTGGAGGAAAT	0.398000														23			23		0	0	1	0	0
NOS1	4842	broad.mit.edu	37	12	117768407	117768407	+	Silent	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr12:117768407C>T	uc001twn.2	-	1	1179	c.468G>A	c.(466-468)ggG>ggA	p.G156G	NOS1_uc001twm.2_Silent_p.G156G	NM_001204218	NP_001191147	P29475	NOS1_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA.	156	Interaction with NOSIP (By similarity).				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	FMN binding|NADP binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	GAGGCCCATTCCCGGGACCCG	0.701000														5			137		0	0	1	0	0
VN1R5	317705	broad.mit.edu	37	1	247420411	247420411	+	Silent	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr1:247420411G>A	uc010pyu.2	+	1	1035	c.1035G>A	c.(1033-1035)ttG>ttA	p.L345L		NM_173858	NP_776257	Q7Z5H4	VN1R5_HUMAN	Homo sapiens vomeronasal 1 receptor 5 (gene/pseudogene) (VN1R5), mRNA.	346					response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity					all_cancers(71;5.7e-05)|all_epithelial(71;1.03e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)	all_cancers(173;0.0314)	OV - Ovarian serous cystadenocarcinoma(106;0.00854)			agctcatgttgaaatttaatc	0.373000														20			13		0	0	1	0	0
CDC27	996	broad.mit.edu	37	17	45266512	45266512	+	Splice_Site	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr17:45266512C>T	uc002ile.4	-	1	154	c.27_splice	c.e1+1	p.Q9_splice	CDC27_uc002ild.4_Splice_Site_p.Q9_splice|CDC27_uc002ilf.4_Splice_Site_p.Q9_splice|CDC27_uc010wkp.2_Splice_Site|CDC27_uc010wkq.1_Splice_Site	NM_001114091	NP_001107563	P30260	CDC27_HUMAN	Homo sapiens cell division cycle 27 homolog (S. cerevisiae) (CDC27), transcript variant 1, mRNA.	9					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						TTATCATTACCTGGACGGGTT	0.692000														35			31		0	0	1	0	0
CEACAM18	729767	broad.mit.edu	37	19	51986339	51986340	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr19:51986339_51986340GG>AA	uc002pwv.1	+	4	925_926	c.925_926GG>AA	c.(925-927)ggc>AAc	p.G309N		NM_001080405	NP_001073874	A8MTB9	CEA18_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 18 (CEACAM18), mRNA.	309	Ig-like C2-type.					integral to membrane				breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1)	17		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		AGCTGAGATCGGCTCCCAAGTG	0.515000														154			126		0	0	1	0	0
ADAMTS7	11173	broad.mit.edu	37	15	79069913	79069913	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr15:79069913C>T	uc002bej.4	-	8	1551	c.1340G>A	c.(1339-1341)tGc>tAc	p.C447Y	ADAMTS7_uc010und.1_Intron|ADAMTS7_uc002bek.1_Missense_Mutation_p.C447Y	NM_014272	NP_055087	Q9UKP4	ATS7_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 7 (ADAMTS7), mRNA.	447	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						GTCGTCCAGGCACAGGCCCCA	0.657000														13			12		0	0	1	0	0
PEX14	5195	broad.mit.edu	37	1	10684462	10684462	+	Nonsense_Mutation	SNP	C	T	T	rs61752116		TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr1:10684462C>T	uc001arn.3	+	6	574	c.553C>T	c.(553-555)Cag>Tag	p.Q185*	PEX14_uc009vmv.3_Nonsense_Mutation_p.Q121*|PEX14_uc010oam.2_Nonsense_Mutation_p.Q121*|PEX14_uc010oan.2_Nonsense_Mutation_p.Q142*|PEX14_uc009vmw.3_Nonsense_Mutation_p.Q121*	NM_004565	NP_004556	O75381	PEX14_HUMAN	Homo sapiens peroxisomal biogenesis factor 14 (PEX14), mRNA.	185					negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|protein homooligomerization|protein import into peroxisome matrix|transmembrane transport	integral to membrane|nucleus|peroxisomal membrane|protein complex	protein N-terminus binding|transcription corepressor activity			breast(3)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)	13	Ovarian(185;0.203)	all_lung(284;6.02e-06)|Lung NSC(185;9.62e-06)|Renal(390;0.000147)|Breast(348;0.000932)|Colorectal(325;0.00215)|Hepatocellular(190;0.00913)|Ovarian(437;0.023)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0292)|Colorectal(212;9.13e-08)|COAD - Colon adenocarcinoma(227;2.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000482)|Kidney(185;0.00174)|KIRC - Kidney renal clear cell carcinoma(229;0.00457)|STAD - Stomach adenocarcinoma(132;0.0249)|READ - Rectum adenocarcinoma(331;0.0419)		GCAGAAGATCCAGGAGCTTGC	0.612000														88			69		0	0	1	0	0
PLEKHA8P1	51054	broad.mit.edu	37	12	45567149	45567149	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr12:45567149G>A	uc001rom.2	-	2	1537	c.1000C>T	c.(1000-1002)Cga>Tga	p.R334*						Homo sapiens pleckstrin homology domain containing, family A member 8 pseudogene 1 (PLEKHA8P1), non-coding RNA.											breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						AAAACCCCTCGAACTACCCAG	0.463000														64			49		0	0	1	0	0
ILVBL	10994	broad.mit.edu	37	19	15234334	15234335	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr19:15234334_15234335CC>TT	uc002nam.3	-	2	309_310	c.188_189GG>AA	c.(187-189)agg>aAA	p.R63K	ILVBL_uc010dzx.1_Missense_Mutation_p.R63K	NM_006844	NP_006835	A1L0T0	ILVBL_HUMAN	Homo sapiens ilvB (bacterial acetolactate synthase)-like (ILVBL), mRNA.	63						integral to membrane	magnesium ion binding|thiamine pyrophosphate binding|transferase activity			NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)	26						CACCATGGGCCCTCAGCACAGC	0.624000														108			57		0	0	1	0	0
FAM40B	57464	broad.mit.edu	37	7	129100212	129100212	+	Splice_Site	SNP	T	C	C			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr7:129100212T>C	uc011koy.2	+	13	1516	c.1476_splice	c.e13+1	p.L492_splice	FAM40B_uc003vow.3_Splice_Site_p.L492_splice|FAM40B_uc011koz.2_5'UTR	NM_020704	NP_065755	Q9ULQ0	FA40B_HUMAN	Homo sapiens family with sequence similarity 40, member B (FAM40B), transcript variant 1, mRNA.	492										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CCTATGTCTTTGGTGAGCCAA	0.458000														11			14		0	0	1	0	0
MLL3	58508	broad.mit.edu	37	7	151845993	151845993	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr7:151845993C>T	uc003wla.3	-	51	13238	c.13019G>A	c.(13018-13020)gGt>gAt	p.G4340D	MLL3_uc003wkz.3_Missense_Mutation_p.G3458D|MLL3_uc003wkx.3_Missense_Mutation_p.G498D|MLL3_uc003wky.3_Missense_Mutation_p.G1904D	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	4340					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		TTCAAACCCACCATGGACAGC	0.483000			N		medulloblastoma									40			32		0	0	1	0	0
PLG	5340	broad.mit.edu	37	6	161174038	161174038	+	Missense_Mutation	SNP	A	C	C			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr6:161174038A>C	uc003qtm.4	+	18	2490	c.2378A>C	c.(2377-2379)tAt>tCt	p.Y793S		NM_000301	NP_000292	P00747	PLMN_HUMAN	Homo sapiens plasminogen (PLG), transcript variant 1, mRNA.	793	Peptidase S1.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	CCTGGTGTCTATGTTCGTGTT	0.473000														22			29		0	0	1	0	0
PI4KA	5297	broad.mit.edu	37	22	21150545	21150545	+	Missense_Mutation	SNP	G	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr22:21150545G>T	uc002zsz.4	-	17	2253	c.1992C>A	c.(1990-1992)gaC>gaA	p.D664E		NM_058004	NP_477352	P42356	PI4KA_HUMAN	Homo sapiens phosphatidylinositol 4-kinase, catalytic, alpha (PI4KA), transcript variant 1, mRNA.	664					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			CCAGGTGCTCGTCTTGGATGT	0.582000														4			31		5.60225e-13	5.64607e-13	1	1	0
DNAI1	27019	broad.mit.edu	37	9	34517295	34517295	+	Missense_Mutation	SNP	G	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr9:34517295G>T	uc003zum.3	+	18	2024	c.1831G>T	c.(1831-1833)Gac>Tac	p.D611Y		NM_012144	NP_036276	Q9UI46	DNAI1_HUMAN	Homo sapiens dynein, axonemal, intermediate chain 1 (DNAI1), mRNA.	611					cell projection organization	cilium axoneme|cytoplasm|dynein complex|microtubule	motor activity			autonomic_ganglia(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|prostate(1)|skin(2)|urinary_tract(1)	34	all_epithelial(49;0.244)		LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.0222)		CCACATATTTGACTTAGCCAT	0.537000									Kartagener syndrome					4			25		2.27525e-19	2.29905e-19	1	1	0
C10orf76	79591	broad.mit.edu	37	10	103649230	103649230	+	Missense_Mutation	SNP	A	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr10:103649230A>T	uc009xwy.1	-	23	1901	c.1799T>A	c.(1798-1800)tTt>tAt	p.F600Y	C10orf76_uc009xwx.1_Non-coding_Transcript	NM_024541	NP_078817	Q5T2E6	CJ076_HUMAN	Homo sapiens chromosome 10 open reading frame 76 (C10orf76), mRNA.	600						integral to membrane				autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|upper_aerodigestive_tract(2)	24		Colorectal(252;0.123)		Epithelial(162;2.41e-08)|all cancers(201;6.41e-07)		TTTGGGGTTAAAGTGGTTGAT	0.428000														182			152		0	0	1	0	0
ODZ4	26011	broad.mit.edu	37	11	78440523	78440523	+	Missense_Mutation	SNP	A	G	G			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr11:78440523A>G	uc001ozl.4	-	21	3767	c.3304T>C	c.(3304-3306)Ttc>Ctc	p.F1102L		NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 4 (Drosophila) (ODZ4), mRNA.	1102					signal transduction	integral to membrane				breast(4)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(45)|ovary(3)|pancreas(2)|prostate(4)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						CACTTCCTGAAGAGGCGGCCC	0.547000														38			25		0	0	1	0	0
LPAR1	1902	broad.mit.edu	37	9	113704412	113704412	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr9:113704412C>T	uc011lwo.2	-	1	87	c.85G>A	c.(85-87)Gag>Aag	p.E29K	LPAR1_uc004bfa.3_Missense_Mutation_p.E28K|LPAR1_uc011lwm.2_Missense_Mutation_p.E29K|LPAR1_uc004bfc.3_Missense_Mutation_p.E28K|LPAR1_uc011lwn.2_Missense_Mutation_p.E10K|LPAR1_uc004bfb.3_Missense_Mutation_p.E28K|LPAR1_uc010mub.3_Missense_Mutation_p.E28K	NM_057159	NP_476500	Q92633	LPAR1_HUMAN	Homo sapiens lysophosphatidic acid receptor 1 (LPAR1), transcript variant 2, mRNA.	28					positive regulation of I-kappaB kinase/NF-kappaB cascade	cell surface|integral to plasma membrane				breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(6)|skin(1)	21						GCAATGGACTCGTTGTAGAAG	0.398000														3			37		0	0	1	0	0
SNRPN	6638	broad.mit.edu	37	15	25446284	25446284	+	Splice_Site	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr15:25446284C>T	uc001yzk.1	+	5		c.308_splice	c.e5-1		SNRPN_uc010ayo.1_Splice_Site|SNORD115-17_uc001yzn.1_5'Flank|SNORD115-17_uc001yzo.1_5'Flank			P63162	RSMN_HUMAN	Homo sapiens clone Rt-13I SNURF-SNRPN mRNA, downstream untranslated exons, alternatively spliced.						RNA splicing	small nuclear ribonucleoprotein complex|spliceosomal complex	RNA binding|identical protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(2)	24		all_cancers(20;9.33e-22)|Breast(32;0.000625)		all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125)		TTCCCCTAGACTGTGAAATGG	0.562000									Prader-Willi syndrome					22			9		0	0	1	0	0
WT1	7490	broad.mit.edu	37	11	32413526	32413526	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr11:32413526C>T	uc001mtn.2	-	8	1614	c.1424G>A	c.(1423-1425)gGt>gAt	p.G475D	WT1_uc001mtl.2_Splice_Site_p.G263_splice|WT1_uc001mtm.2_Missense_Mutation_p.G246D|WT1_uc001mto.2_Splice_Site_p.G475_splice|WT1_uc001mtq.2_Splice_Site_p.G458_splice|WT1_uc009yjs.2_Non-coding_Transcript	NM_024426	NP_077744	P19544	WT1_HUMAN	Homo sapiens Wilms tumor 1 (WT1), transcript variant D, mRNA.	407					RNA splicing|adrenal cortex formation|branching involved in ureteric bud morphogenesis|camera-type eye development|cardiac muscle cell fate commitment|cellular response to cAMP|cellular response to gonadotropin stimulus|germ cell development|glomerular basement membrane development|glomerular visceral epithelial cell differentiation|induction of apoptosis|male genitalia development|male gonad development|mesenchymal to epithelial transition|metanephric S-shaped body morphogenesis|metanephric epithelium development|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of female gonad development|negative regulation of metanephric glomerular mesangial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of translation|positive regulation of male gonad development|positive regulation of transcription, DNA-dependent|posterior mesonephric tubule development|regulation of organ formation|sex determination|vasculogenesis|visceral serous pericardium development	cytoplasm|nuclear speck|nucleoplasm	C2H2 zinc finger domain binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	p.V380_S410del(1)	EWSR1/WT1(234)	NS(1)|haematopoietic_and_lymphoid_tissue(348)|kidney(149)|large_intestine(9)|lung(20)|peritoneum(1)|pleura(2)|skin(2)|upper_aerodigestive_tract(1)	533	Breast(20;0.247)		OV - Ovarian serous cystadenocarcinoma(30;0.128)			ACTTGTTTTACCTGTATGAGT	0.388000			"""D, Mis, N, F, S"""	EWSR1	"""Wilms, desmoplastic small round cell tumor"""	Wilms			Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation;Frasier syndrome;Familial Wilms' tumor;Denys-Drash syndrome					188			161		0	0	1	0	0
SIPA1L1	26037	broad.mit.edu	37	14	72054918	72054918	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr14:72054918C>T	uc001xms.3	+	1	690	c.329C>T	c.(328-330)tCc>tTc	p.S110F	SIPA1L1_uc001xmt.3_Missense_Mutation_p.S110F|SIPA1L1_uc001xmu.3_Missense_Mutation_p.S110F|SIPA1L1_uc001xmv.3_Missense_Mutation_p.S110F	NM_015556	NP_056371	O43166	SI1L1_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 1 (SIPA1L1), mRNA.	110	Ser-rich.				actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		GATAGCCTGTCCTCCAAAAGC	0.453000														146			104		0	0	1	0	0
SYNPO2	171024	broad.mit.edu	37	4	119951914	119951914	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr4:119951914G>A	uc010inb.3	+	3	2180	c.1984G>A	c.(1984-1986)Gat>Aat	p.D662N	SYNPO2_uc010ina.3_Missense_Mutation_p.D662N|SYNPO2_uc003icm.4_Missense_Mutation_p.D662N|SYNPO2_uc011cgh.2_Intron|SYNPO2_uc010inc.3_Missense_Mutation_p.D590N|SYNPO2_uc021xrd.1_5'Flank	NM_133477	NP_597734	Q9UMS6	SYNP2_HUMAN	Homo sapiens synaptopodin 2 (SYNPO2), transcript variant 1, mRNA.	662						Z disc|nucleus	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						AGCCTTTTACGATTCGTCTGA	0.572000														53			50		0	0	1	0	0
NUDT2	318	broad.mit.edu	37	9	34339151	34339151	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr9:34339151G>A	uc003zuc.3	+	3	401	c.114G>A	c.(112-114)tgG>tgA	p.W38*	NUDT2_uc003zub.3_Nonsense_Mutation_p.W38*|NUDT2_uc003zud.3_Nonsense_Mutation_p.W38*|NUDT2_uc022bga.1_Nonsense_Mutation_p.W38*	NM_147172	NP_671701	P50583	AP4A_HUMAN	Homo sapiens nudix (nucleoside diphosphate linked moiety X)-type motif 2 (NUDT2), transcript variant 2, mRNA.	38	Nudix hydrolase.				induction of apoptosis|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		GTP binding|bis(5'-nucleosyl)-tetraphosphatase (asymmetrical) activity|bis(5'-nucleosyl)-tetraphosphatase (symmetrical) activity			lung(3)	3			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)		TTCATCACTGGACTCCTCCCA	0.517000														8			58		0	0	1	0	0
WIBG	84305	broad.mit.edu	37	12	56295778	56295778	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr12:56295778C>T	uc001sif.1	-	2	645	c.493G>A	c.(493-495)Gaa>Aaa	p.E165K	WIBG_uc001sie.1_Missense_Mutation_p.E164K	NM_032345	NP_115721	Q9BRP8	WIBG_HUMAN	Homo sapiens within bgcn homolog (Drosophila) (WIBG), transcript variant 1, mRNA.	165	eIF2A-like.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation	cytoplasm|exon-exon junction complex|nucleolus|nucleoplasm	RNA binding|protein binding|ribosome binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5						TGCAGCTCTTCCACCTGCCGG	0.557000														251			188		0	0	1	0	0
CYP11B1	1584	broad.mit.edu	37	8	143960498	143960498	+	Silent	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr8:143960498G>A	uc010mey.3	-	2	487	c.480C>T	c.(478-480)ccC>ccT	p.P160P	CYP11B1_uc003yxh.3_5'Flank|CYP11B1_uc003yxi.3_Silent_p.P115P|CYP11B1_uc003yxj.3_Silent_p.P115P	NM_000497	NP_000488	P15538	C11B1_HUMAN	Homo sapiens cytochrome P450, family 11, subfamily B, polypeptide 1 (CYP11B1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	115			M -> I (in dbSNP:rs5287).		aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Mitotane(DB00648)	AGGCCACCCAGGGCTCCAGGC	0.617000									Familial Hyperaldosteronism type I					65			40		0	0	1	0	0
ACAN	176	broad.mit.edu	37	15	89400692	89400692	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr15:89400692C>T	uc010upo.1	+	11	5250	c.4876C>T	c.(4876-4878)Ccc>Tcc	p.P1626S	ACAN_uc010upp.1_Missense_Mutation_p.P1626S|ACAN_uc002bna.2_Non-coding_Transcript	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA.	1626					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			AAGTGGTCTTCCCTCTGGATT	0.522000														159			134		0	0	1	0	0
ODZ4	26011	broad.mit.edu	37	11	78440650	78440650	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr11:78440650C>T	uc001ozl.4	-	21	3640	c.3177G>A	c.(3175-3177)atG>atA	p.M1059I		NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 4 (Drosophila) (ODZ4), mRNA.	1059					signal transduction	integral to membrane				breast(4)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(45)|ovary(3)|pancreas(2)|prostate(4)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						AGCTCAGCCTCATCTTGCAGC	0.567000														106			72		0	0	1	0	0
ATG12	9140	broad.mit.edu	37	5	115168334	115168334	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr5:115168334G>A	uc003krh.3	-	2	627	c.328C>T	c.(328-330)Cct>Tct	p.P110S	ATG12_uc021ycr.1_Non-coding_Transcript|ATG12_uc021ycs.1_Non-coding_Transcript|ATG12_uc003kri.3_Missense_Mutation_p.S111F	NM_004707	NP_004698	O94817	ATG12_HUMAN	Homo sapiens ATG12 autophagy related 12 homolog (S. cerevisiae) (ATG12), transcript variant 1, mRNA.	110					autophagic vacuole assembly|negative regulation of type I interferon production	pre-autophagosomal structure membrane	protein binding			endometrium(2)|kidney(1)|lung(1)|prostate(1)	5		all_cancers(142;0.00377)|all_epithelial(76;0.000129)|Prostate(80;0.0132)|Ovarian(225;0.0776)|Lung NSC(810;0.245)		OV - Ovarian serous cystadenocarcinoma(64;7.59e-08)|Epithelial(69;7.05e-07)|all cancers(49;3.11e-05)		TCTGGGGAAGGAGCAAAGGAC	0.303000														45			36		0	0	1	0	0
RGAG1	57529	broad.mit.edu	37	X	109694485	109694485	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chrX:109694485G>A	uc004eor.2	+	2	886	c.640G>A	c.(640-642)Gga>Aga	p.G214R	RGAG1_uc011msr.1_Missense_Mutation_p.G214R	NM_020769	NP_065820	Q8NET4	RGAG1_HUMAN	Homo sapiens retrotransposon gag domain containing 1 (RGAG1), mRNA.	214										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						TATGAATCCTGGAGTGATGTC	0.458000														14			111		0	0	1	0	0
ATR	545	broad.mit.edu	37	3	142281333	142281333	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr3:142281333G>A	uc003eux.4	-	3	1033	c.911C>T	c.(910-912)cCc>cTc	p.P304L		NM_001184	NP_001175	Q13535	ATR_HUMAN	Homo sapiens ataxia telangiectasia and Rad3 related (ATR), mRNA.	304					DNA damage checkpoint|DNA repair|DNA replication|cell cycle|cellular response to UV|cellular response to gamma radiation|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						TGCTTCAAAGGGAAATAGTGT	0.358000								Other conserved DNA damage response genes						71			43		0	0	1	0	0
SLC25A11	8402	broad.mit.edu	37	17	4842408	4842408	+	Silent	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr17:4842408G>A	uc002fzo.2	-	1	452	c.195C>T	c.(193-195)ttC>ttT	p.F65F	SLC25A11_uc002fzp.2_Silent_p.F33F|SLC25A11_uc021tod.1_Silent_p.F54F|SLC25A11_uc021toe.1_Intron|RNF167_uc002fzs.3_5'Flank|RNF167_uc002fzw.2_5'Flank|RNF167_uc002fzu.3_5'Flank	NM_003562	NP_003553	Q02978	M2OM_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial carrier; oxoglutarate carrier), member 11 (SLC25A11), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	65					gluconeogenesis	integral to plasma membrane|mitochondrial inner membrane	oxoglutarate:malate antiporter activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)	10						TGAGGGCATGGAAGCTGGTTT	0.567000														63			66		0	0	1	0	0
ACLY	47	broad.mit.edu	37	17	40025766	40025766	+	Silent	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr17:40025766G>A	uc002hyg.3	-	25	3175	c.3012C>T	c.(3010-3012)ctC>ctT	p.L1004L	ACLY_uc002hyh.3_Silent_p.L994L|ACLY_uc002hyi.3_Silent_p.L1058L|ACLY_uc010wfx.2_Silent_p.L1048L|ACLY_uc010wfy.2_Silent_p.L733L	NM_001096	NP_001087	P53396	ACLY_HUMAN	Homo sapiens ATP citrate lyase (ACLY), transcript variant 1, mRNA.	1004					ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	citrate lyase complex|cytosol|nucleus	ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity		NTN1/ACLY(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28		Breast(137;0.000143)				GTGCATAATCGAGCAGAGGAG	0.453000														71			56		0	0	1	0	0
CFHR1	3078	broad.mit.edu	37	1	196799769	196799769	+	Silent	SNP	A	C	C			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr1:196799769A>C	uc001gtn.3	+	4	861	c.747A>C	c.(745-747)atA>atC	p.I249I	CFH_uc021pgt.1_Intron|CFHR1_uc001gtm.3_Silent_p.I153I	NM_002113	NP_002104	Q03591	FHR1_HUMAN	Homo sapiens complement factor H-related 1 (CFHR1), mRNA.	249	Sushi 4.				complement activation	extracellular space				NS(1)|kidney(1)|large_intestine(2)|lung(7)	11						ACAAGCGAATAACATGTAGAA	0.393000														57			53		0	0	1	0	0
NCOA3	8202	broad.mit.edu	37	20	46268356	46268356	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr20:46268356C>T	uc002xtk.3	+	14	3004	c.2743C>T	c.(2743-2745)Cct>Tct	p.P915S	NCOA3_uc002xtl.3_Missense_Mutation_p.P915S|NCOA3_uc002xtn.3_Missense_Mutation_p.P915S|NCOA3_uc010ght.2_Intron|NCOA3_uc002xtm.3_Missense_Mutation_p.P915S|NCOA3_uc010zyc.2_Missense_Mutation_p.P710S	NM_181659	NP_858045	Q9Y6Q9	NCOA3_HUMAN	Homo sapiens nuclear receptor coactivator 3 (NCOA3), transcript variant 1, mRNA.	915					androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						GACTCAGACTCCTTCCTCAGG	0.428000														135			129		0	0	1	0	0
OR4N3P	390539	broad.mit.edu	37	15	22413950	22413950	+	Silent	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr15:22413950C>T	uc001yuf.3	+	0	489	c.249C>T	c.(247-249)atC>atT	p.I83I	abParts_uc001yuj.2_Intron					Homo sapiens olfactory receptor, family 4, subfamily N, member 3 pseudogene (OR4N3P), non-coding RNA.																		TGGTCCTCATCATCCGCTTGC	0.507000														74			73		0	0	1	0	0
GLP2R	9340	broad.mit.edu	37	17	9737190	9737190	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr17:9737190G>A	uc002gmd.1	+	1	256	c.256G>A	c.(256-258)Gac>Aac	p.D86N	GLP2R_uc010cog.1_Non-coding_Transcript	NM_004246	NP_004237	O95838	GLP2R_HUMAN	Homo sapiens glucagon-like peptide 2 receptor (GLP2R), mRNA.	86					G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation	integral to membrane|plasma membrane				endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44					Glucagon recombinant(DB00040)	ATGTCTGAGAGACTTACTCAA	0.468000														24			28		0	0	1	0	0
ABCC12	94160	broad.mit.edu	37	16	48145687	48145687	+	Splice_Site	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr16:48145687C>T	uc002efc.1	-	14	2470	c.2124_splice	c.e14+1	p.K708_splice	ABCC12_uc002eey.1_Splice_Site|ABCC12_uc002eez.1_Splice_Site|ABCC12_uc002efa.1_Splice_Site|ABCC12_uc002efb.1_Splice_Site|ABCC12_uc002efd.1_Splice_Site	NM_033226	NP_150229	Q96J65	MRP9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 12 (ABCC12), mRNA.	708						integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				TGTGAGTTACCTTGAACTGCA	0.498000														66			54		0	0	1	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37430843	37430843	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr10:37430843C>T	uc021ppc.1	+	6	949	c.850C>T	c.(850-852)Caa>Taa	p.Q284*	ANKRD30A_uc001iza.1_Nonsense_Mutation_p.Q284*	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	340						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						TGACAAAATTCAATGTTTGGA	0.448000														54			47		0	0	1	0	0
ZNF347	84671	broad.mit.edu	37	19	53644911	53644911	+	Silent	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr19:53644911G>A	uc002qbc.2	-	4	1600	c.1173C>T	c.(1171-1173)atC>atT	p.I391I	ZNF347_uc002qbb.2_Silent_p.I390I|ZNF347_uc010eql.2_Silent_p.I391I	NM_001172674	NP_001166146	Q96SE7	ZN347_HUMAN	Homo sapiens zinc finger protein 347 (ZNF347), transcript variant 1, mRNA.	390					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		TTGCCTGATGGATAGCTAAGC	0.408000														46			43		0	0	1	0	0
MKI67	4288	broad.mit.edu	37	10	129914759	129914759	+	Silent	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr10:129914759G>A	uc001lke.3	-	5	591	c.396C>T	c.(394-396)gaC>gaT	p.D132D	MKI67_uc001lkf.3_Silent_p.D132D|MKI67_uc009yav.1_Silent_p.D67D|MKI67_uc009yaw.1_Intron	NM_002417	NP_002408	P46013	KI67_HUMAN	Homo sapiens antigen identified by monoclonal antibody Ki-67 (MKI67), transcript variant 1, mRNA.	132					cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				ACTCACCAGGGTCAGAAGAGA	0.438000														55			36		0	0	1	0	0
SERPING1	710	broad.mit.edu	37	11	57379382	57379382	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr11:57379382G>A	uc001nkp.1	+	6	1413	c.1222G>A	c.(1222-1224)Gat>Aat	p.D408N	SERPING1_uc010rju.1_Missense_Mutation_p.D356N|SERPING1_uc010rjv.1_Missense_Mutation_p.D413N|SERPING1_uc001nkr.1_Missense_Mutation_p.D408N|SERPING1_uc001nks.1_Missense_Mutation_p.D99N	NM_000062	NP_001027466	P05155	IC1_HUMAN	Homo sapiens serpin peptidase inhibitor, clade G (C1 inhibitor), member 1 (SERPING1), transcript variant 1, mRNA.	408			D -> V (in HAE; type 1).		blood circulation|blood coagulation, intrinsic pathway|complement activation, classical pathway|innate immune response|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation	extracellular space|platelet alpha granule lumen	protein binding|serine-type endopeptidase inhibitor activity	p.Q407H(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(1)	27						GACCAGCCAGGATATGCTCTC	0.517000														67			69		0	0	1	0	0
CSRP1	1465	broad.mit.edu	37	1	201453892	201453893	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr1:201453892_201453893GG>AA	uc021phg.1	-	5	683_684	c.530_531CC>TT	c.(529-531)ccc>cTT	p.P177L	CSRP1_uc001gwr.2_Non-coding_Transcript|CSRP1_uc021phh.1_Missense_Mutation_p.P177L|CSRP1_uc001gws.3_Missense_Mutation_p.P177L|CSRP1_uc010ppr.2_Missense_Mutation_p.P171L	NM_001193572	NP_004069	P21291	CSRP1_HUMAN	Homo sapiens cysteine and glycine-rich protein 1 (CSRP1), transcript variant 5, mRNA.	177	Gly-rich.					nucleus	zinc ion binding			large_intestine(3)|lung(2)|ovary(1)	6						CAAAGCCCTTGGGCCCGAAGTT	0.579000														29			37		0	0	1	0	0
RIPPLY1	92129	broad.mit.edu	37	X	106144090	106144090	+	Silent	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chrX:106144090C>T	uc004emr.2	-	3	389	c.345G>A	c.(343-345)ggG>ggA	p.G115G	MORC4_uc004emp.4_Intron|CLDN2_uc004emq.1_Intron|RIPPLY1_uc004ems.2_Silent_p.G68G	NM_138382	NP_612391	Q0D2K3	RIPP1_HUMAN	Homo sapiens ripply1 homolog (zebrafish) (RIPPLY1), transcript variant 1, mRNA.	115	Ripply homology domain.				negative regulation of transcription, DNA-dependent|somite rostral/caudal axis specification|somite specification|transcription, DNA-dependent	nucleus				lung(1)|urinary_tract(1)	2						GTAAAATCTCCCCAGCACTGT	0.502000														2			35		0	0	1	0	0
LRTM1	57408	broad.mit.edu	37	3	54952852	54952852	+	Silent	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr3:54952852G>A	uc003dhl.3	-	2	806	c.672C>T	c.(670-672)atC>atT	p.I224I	CACNA2D3_uc003dhf.3_Intron|CACNA2D3_uc003dhg.1_Intron|CACNA2D3_uc003dhh.1_Intron	NM_020678	NP_065729	Q9HBL6	LRTM1_HUMAN	Homo sapiens leucine-rich repeats and transmembrane domains 1 (LRTM1), mRNA.	224	LRRCT.					integral to membrane		p.I224I(2)		breast(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(4)	21				KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502)		GCTCATGAGGGATCCTAAGGA	0.542000														22			17		0	0	1	0	0
DPP9	91039	broad.mit.edu	37	19	4704146	4704146	+	Missense_Mutation	SNP	G	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr19:4704146G>T	uc002mba.3	-	5	855	c.597C>A	c.(595-597)ttC>ttA	p.F199L		NM_139159	NP_631898	Q86TI2	DPP9_HUMAN	Homo sapiens dipeptidyl-peptidase 9 (DPP9), mRNA.	170					proteolysis	cytosol|membrane	aminopeptidase activity|serine-type peptidase activity			cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00884)		GGCTCACCATGAAGCCGTTCT	0.657000														64			49		6.61955e-31	6.74165e-31	1	1	0
SMARCAD1	56916	broad.mit.edu	37	4	95194771	95194771	+	Silent	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr4:95194771C>T	uc003htb.4	+	11	1753	c.1576C>T	c.(1576-1578)Cta>Tta	p.L526L	SMARCAD1_uc003htc.4_Silent_p.L526L|SMARCAD1_uc003htd.4_Silent_p.L526L|SMARCAD1_uc010ila.3_Silent_p.L389L|SMARCAD1_uc011cdw.2_Silent_p.L96L	NM_001128430	NP_001121902	Q9H4L7	SMRCD_HUMAN	Homo sapiens SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1 (SMARCAD1), transcript variant 2, mRNA.	526	Helicase ATP-binding.				chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination	nuclear matrix	ATP binding|DNA binding|helicase activity			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)		TTTTTAGGGCCTAGGAAAAAC	0.313000														18			13		0	0	1	0	0
OR52K2	119774	broad.mit.edu	37	11	4471472	4471472	+	Silent	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr11:4471472C>T	uc001lyz.2	+	0	948	c.903C>T	c.(901-903)atC>atT	p.I301I		NM_001005172	NP_001005172	Q8NGK3	O52K2_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily K, member 2 (OR52K2), mRNA.	301					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|skin(6)	25		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.48e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0821)|LUSC - Lung squamous cell carcinoma(625;0.19)		CCAAGCAAATCCGTGAGAGCA	0.498000														56			43		0	0	1	0	0
PTPRG	5793	broad.mit.edu	37	3	62189459	62189459	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr3:62189459C>T	uc003dlb.3	+	11	2709	c.1990C>T	c.(1990-1992)Cca>Tca	p.P664S	PTPRG_uc003dlc.3_Missense_Mutation_p.P664S	NM_002841	NP_002832	P23470	PTPRG_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, G (PTPRG), mRNA.	664					transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		GGATGCCGGCCCAGGCCTGGA	0.637000														23			19		0	0	1	0	0
OR10AG1	282770	broad.mit.edu	37	11	55735160	55735160	+	Silent	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr11:55735160C>T	uc010rit.2	-	0	780	c.780G>A	c.(778-780)agG>agA	p.R260R		NM_001005491	NP_001005491	Q8NH19	O10AG_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily AG, member 1 (OR10AG1), mRNA.	260					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R260M(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40	Esophageal squamous(21;0.0137)					GTTTCCCCATCCTTTGAAACT	0.383000														21			16		0	0	1	0	0
KIAA2022	340533	broad.mit.edu	37	X	73963687	73963687	+	Nonsense_Mutation	SNP	A	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chrX:73963687A>T	uc004eby.3	-	2	1322	c.705T>A	c.(703-705)taT>taA	p.Y235*		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	Homo sapiens KIAA2022 (KIAA2022), mRNA.	235					DNA replication proofreading|DNA replication, removal of RNA primer|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						ATGCCTCATAATAGCTTTTCT	0.443000														9			101		0	0	1	0	0
ING3	54556	broad.mit.edu	37	7	120590817	120590817	+	Splice_Site	SNP	T	C	C			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr7:120590817T>C	uc003vjn.3	+	1	1	c.-133_splice	c.e1-1		ING3_uc011knr.1_Splice_Site|ING3_uc003vjl.3_Splice_Site|ING3_uc003vjm.1_Splice_Site|ING3_uc003vjo.3_Splice_Site|ING3_uc003vjp.3_Splice_Site|ING3_uc011kns.2_5'Flank	NM_019071	NP_061944	Q9NXR8	ING3_HUMAN	Homo sapiens inhibitor of growth family, member 3 (ING3), transcript variant 1, mRNA.						histone H2A acetylation|histone H4 acetylation|positive regulation of apoptosis|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|Piccolo NuA4 histone acetyltransferase complex	zinc ion binding			NS(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	12	all_neural(327;0.117)					tttttttttcttttttttttt	0.542000														8			4		0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	42080412	42080412	+	Missense_Mutation	SNP	T	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr21:42080412T>A	uc002yyq.1	-	1	781	c.329A>T	c.(328-330)aAa>aTa	p.K110I	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	110	Ig-like C2-type 1.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				ACTTCTAATTTTCCCTGAAGG	0.443000														67			77		0	0	1	0	0
RPGRIP1	57096	broad.mit.edu	37	14	21794020	21794020	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr14:21794020G>A	uc001wag.3	+	15	2398	c.2398G>A	c.(2398-2400)Gag>Aag	p.E800K	RPGRIP1_uc001wah.3_Missense_Mutation_p.E442K|RPGRIP1_uc001wai.3_Intron|RPGRIP1_uc001wak.3_Missense_Mutation_p.E275K|RPGRIP1_uc010aim.3_Missense_Mutation_p.E183K|RPGRIP1_uc001wal.3_Missense_Mutation_p.E159K|RPGRIP1_uc001wam.3_Missense_Mutation_p.E117K	NM_020366	NP_065099	Q96KN7	RPGR1_HUMAN	Homo sapiens retinitis pigmentosa GTPase regulator interacting protein 1 (RPGRIP1), mRNA.	800					response to stimulus|visual perception	cilium				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		ACCTCAGAACGAGCTGTGGAT	0.502000														39			27		0	0	1	0	0
ZNF679	168417	broad.mit.edu	37	7	63726438	63726438	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr7:63726438G>A	uc003tsx.3	+	4	696	c.427G>A	c.(427-429)Gaa>Aaa	p.E143K		NM_153363	NP_699194	Q8IYX0	ZN679_HUMAN	Homo sapiens zinc finger protein 679 (ZNF679), mRNA.	143					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						AGGTTGTAATGAAGTTAACCA	0.333000														7			12		0	0	1	0	0
EPHB4	2050	broad.mit.edu	37	7	100403136	100403137	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr7:100403136_100403137GG>AA	uc003uwn.1	-	14	3155_3156	c.2664_2665CC>TT	c.(2662-2667)gcccgg>gcTTgg	p.R889W	EPHB4_uc003uwm.1_Missense_Mutation_p.R796W|EPHB4_uc010lhj.1_Missense_Mutation_p.R889W	NM_004444	NP_004435	P54760	EPHB4_HUMAN	Homo sapiens EPH receptor B4 (EPHB4), mRNA.	889	Protein kinase.		R -> W (in a gastric adenocarcinoma sample; somatic mutation).		cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity	p.R889W(2)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					CCATTCTCCCGGGCCACGATTT	0.634000														80			72		0	0	1	0	0
DNAH6	1768	broad.mit.edu	37	2	84811225	84811225	+	Missense_Mutation	SNP	A	G	G			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr2:84811225A>G	uc010fgb.3	+	14	2469	c.2332A>G	c.(2332-2334)Act>Gct	p.T778A	DNAH6_uc002soo.3_Missense_Mutation_p.T357A|DNAH6_uc002sop.3_Missense_Mutation_p.T357A	NM_001370	NP_001361	Q9C0G6	DYH6_HUMAN	Homo sapiens dynein, axonemal, heavy chain 6 (DNAH6), mRNA.	778	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						TGTTTTTGCAACTATGAAGCC	0.408000														71			39		0	0	1	0	0
RAP1GAP2	23108	broad.mit.edu	37	17	2699828	2699828	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr17:2699828G>A	uc010ckd.3	+	0	97	c.7G>A	c.(7-9)Ggc>Agc	p.G3S	RAP1GAP2_uc010cke.3_Missense_Mutation_p.G3S	NM_015085	NP_055900	Q684P5	RPGP2_HUMAN	Homo sapiens RAP1 GTPase activating protein 2 (RAP1GAP2), transcript variant 1, mRNA.	3					regulation of small GTPase mediated signal transduction	centrosome|cytosol|perinuclear region of cytoplasm	GTPase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	11						AACCATGTTTGGCCGGAAGCG	0.622000														4			7		0	0	1	0	0
MS4A10	341116	broad.mit.edu	37	11	60565956	60565956	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr11:60565956C>T	uc001npz.1	+	6	787	c.691C>T	c.(691-693)Caa>Taa	p.Q231*		NM_206893	NP_996776	Q96PG2	M4A10_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 10 (MS4A10), mRNA.	231						integral to membrane	receptor activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|skin(2)	21						GAGTGTGATTCAAGGCGACGC	0.547000														85			85		0	0	1	0	0
RARG	5916	broad.mit.edu	37	12	53607979	53607979	+	Missense_Mutation	SNP	A	C	C			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr12:53607979A>C	uc001scf.3	-	6	1169	c.677T>G	c.(676-678)cTg>cGg	p.L226R	RARG_uc001scd.3_Missense_Mutation_p.L215R|RARG_uc010sob.2_Missense_Mutation_p.L204R|RARG_uc001scg.3_Missense_Mutation_p.L154R|RARG_uc010soc.2_Missense_Mutation_p.L105R|RARG_uc001sce.3_Missense_Mutation_p.L226R|RARG_uc010sod.2_Missense_Mutation_p.L263R	NM_000966	NP_001230660	P13631	RARG_HUMAN	Homo sapiens retinoic acid receptor, gamma (RARG), transcript variant 1, mRNA.	226	Ligand-binding.				canonical Wnt receptor signaling pathway|embryonic eye morphogenesis|embryonic hindlimb morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|regulation of cell size|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid	integral to membrane|transcription factor complex	retinoic acid receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)	CTTGTCCCACAGCCCCAGATC	0.587000														97			105		0	0	1	0	0
OR8S1	341568	broad.mit.edu	37	12	48920207	48920208	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr12:48920207_48920208GG>AA	uc010slu.2	+	0	793_794	c.793_794GG>AA	c.(793-795)ggt>AAt	p.G265N		NM_001005203	NP_001005203	Q8NH09	OR8S1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily S, member 1 (OR8S1), mRNA.	265					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|skin(4)	22						GCCAAACTCAGGTTCCCCCATA	0.500000														59			47		0	0	1	0	0
NQO2	4835	broad.mit.edu	37	6	3015827	3015827	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr6:3015827C>T	uc003mus.2	+	4	705	c.367C>T	c.(367-369)Cag>Tag	p.Q123*	NQO2_uc003mup.1_3'UTR|NQO2_uc003mut.2_Nonsense_Mutation_p.Q123*	NM_000904	NP_000895	P16083	NQO2_HUMAN	Homo sapiens NAD(P)H dehydrogenase, quinone 2 (NQO2), mRNA.	123						cytoplasm|nucleus	NADPH dehydrogenase (quinone) activity|coenzyme binding|dihydronicotinamide riboside quinone reductase activity|electron carrier activity|metal ion binding			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	7	Ovarian(93;0.0412)	all_hematologic(90;0.0895)			Menadione(DB00170)|NADH(DB00157)	GGTGCTGTGCCAGGGCTTTGC	0.552000														42			37		0	0	1	0	0
POR	5447	broad.mit.edu	37	7	75583369	75583370	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr7:75583369_75583370CC>TT	uc003udy.3	+	1	141_142	c.59_60CC>TT	c.(58-60)gcc>gTT	p.A20V		NM_000941	NP_000932	P16435	NCPR_HUMAN	Homo sapiens P450 (cytochrome) oxidoreductase (POR), mRNA.	17					cellular organofluorine metabolic process|positive regulation of monooxygenase activity	endoplasmic reticulum membrane	NADPH-hemoprotein reductase activity|iron ion binding			central_nervous_system(1)|endometrium(2)|kidney(2)|lung(3)|ovary(1)	9					Benzphetamine(DB00865)|Daunorubicin(DB00694)|Lipoic Acid(DB00166)|Menadione(DB00170)|Methoxyflurane(DB01028)|Mitomycin(DB00305)|Nilutamide(DB00665)	GAGGCGGTGGCCGAAGAAGTAT	0.495000														10			11		0	0	1	0	0
KIAA2022	340533	broad.mit.edu	37	X	73963413	73963413	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chrX:73963413G>A	uc004eby.3	-	2	1596	c.979C>T	c.(979-981)Ctt>Ttt	p.L327F		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	Homo sapiens KIAA2022 (KIAA2022), mRNA.	327					DNA replication proofreading|DNA replication, removal of RNA primer|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						TGCATCAAAAGAGTAGTCTTG	0.453000														4			50		0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36874735	36874735	+	Silent	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr3:36874735G>A	uc003cgj.3	-	20	6455	c.6207C>T	c.(6205-6207)tgC>tgT	p.C2069C		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	2069					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						AAAACTCAAAGCAAGATTTGA	0.468000														36			24		0	0	1	0	0
ABHD16A	7920	broad.mit.edu	37	6	31656529	31656529	+	Silent	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr6:31656529G>A	uc003nvy.2	-	13	1300	c.1221C>T	c.(1219-1221)ctC>ctT	p.L407L	ABHD16A_uc003nvx.2_Silent_p.L188L|ABHD16A_uc011dny.2_Silent_p.L374L|ABHD16A_uc010jtc.2_Silent_p.L188L|ABHD16A_uc011dnz.2_Silent_p.L188L	NM_021160	NP_066983	O95870	ABHGA_HUMAN	Homo sapiens abhydrolase domain containing 16A (ABHD16A), transcript variant 1, mRNA.	407						integral to membrane	hydrolase activity|protein binding			endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	10						TGTTTAGATTGAGATGCTGCC	0.592000														48			32		0	0	1	0	0
EAF2	55840	broad.mit.edu	37	3	121575953	121575953	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr3:121575953C>T	uc003een.3	+	3	533	c.434C>T	c.(433-435)cCa>cTa	p.P145L	EAF2_uc003eeo.3_Missense_Mutation_p.P15L	NM_018456	NP_060926	Q96CJ1	EAF2_HUMAN	Homo sapiens ELL associated factor 2 (EAF2), mRNA.	145					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)		AAACATTCTCCATCTGAAGAT	0.353000														31			28		0	0	1	0	0
SLC24A1	9187	broad.mit.edu	37	15	65917410	65917410	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr15:65917410G>A	uc010ujf.2	+	1	1279	c.992G>A	c.(991-993)aGc>aAc	p.S331N	SLC24A1_uc010ujd.1_Missense_Mutation_p.S331N|SLC24A1_uc010uje.1_Missense_Mutation_p.S331N|SLC24A1_uc010ujg.2_Missense_Mutation_p.S331N|SLC24A1_uc010ujh.2_Missense_Mutation_p.S331N	NM_004727	NP_004718	O60721	NCKX1_HUMAN	Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 1 (SLC24A1), transcript variant 1, mRNA.	331					response to light intensity|visual perception	integral to plasma membrane|membrane fraction|outer membrane	calcium, potassium:sodium antiporter activity|protein binding|symporter activity			breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						ATGACAGGCAGCAGCCCAGCA	0.552000														59			71		0	0	1	0	0
CHRM2	1129	broad.mit.edu	37	7	136699960	136699960	+	Silent	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr7:136699960C>T	uc003vtf.1	+	3	971	c.348C>T	c.(346-348)atC>atT	p.I116I	CHRM2_uc003vtg.1_Silent_p.I116I|CHRM2_uc003vti.1_Silent_p.I116I|CHRM2_uc003vtm.1_Silent_p.I116I|CHRM2_uc003vtj.1_Silent_p.I116I|CHRM2_uc003vtk.1_Silent_p.I116I|CHRM2_uc003vtl.1_Silent_p.I116I|CHRM2_uc003vtn.1_Silent_p.I116I|CHRM2_uc003vto.1_Silent_p.I116I|AK097470_uc003vtp.1_Intron|CHRM2_uc022ame.1_Silent_p.I116I	NM_001006630	NP_001006633	P08172	ACM2_HUMAN	Homo sapiens cholinergic receptor, muscarinic 2 (CHRM2), transcript variant 1, mRNA.	116					G-protein signaling, coupled to cAMP nucleotide second messenger|activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)	ATCTGCTCATCATCAGCTTTG	0.502000														92			65		0	0	1	0	0
HMSD	284293	broad.mit.edu	37	18	61627405	61627405	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr18:61627405C>T	uc010dqj.3	+	3	385	c.236C>T	c.(235-237)tCc>tTc	p.S79F	SERPINB8_uc002ljs.1_5'Flank	NM_001123366	NP_001116838	A8MTL9	HMSD_HUMAN	Homo sapiens histocompatibility (minor) serpin domain containing (HMSD), mRNA.	79						extracellular region	serine-type endopeptidase inhibitor activity			kidney(1)|large_intestine(2)|lung(2)|stomach(1)	6						TTTACAGATTCCTGTGGCAAA	0.378000														27			16		0	0	1	0	0
C1orf114	57821	broad.mit.edu	37	1	169388366	169388366	+	Missense_Mutation	SNP	T	C	C			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr1:169388366T>C	uc001gga.1	-	3	1268	c.1100A>G	c.(1099-1101)gAa>gGa	p.E367G	C1orf114_uc001gfz.1_Missense_Mutation_p.E367G|C1orf114_uc009wvq.1_Missense_Mutation_p.E367G|C1orf114_uc001ggb.3_Missense_Mutation_p.E367G	NM_021179	NP_067002	Q5TID7	CA114_HUMAN	Homo sapiens chromosome 1 open reading frame 114 (C1orf114), mRNA.	367										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(3)	22	all_hematologic(923;0.208)					TCTCTTTTTTTCTTTCTCTTC	0.328000														30			12		0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	33876638	33876638	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr15:33876638C>T	uc001zhi.3	+	14	1686	c.1616C>T	c.(1615-1617)tCc>tTc	p.S539F	RYR3_uc010bar.3_Missense_Mutation_p.S539F	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	539					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GCTCAATTCTCCAATAACCTT	0.393000														15			9		0	0	1	0	0
FAM188A	80013	broad.mit.edu	37	10	15879309	15879309	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr10:15879309G>A	uc001iod.1	-	5	691	c.470C>T	c.(469-471)tCg>tTg	p.S157L	FAM188A_uc001ioe.1_5'UTR	NM_024948	NP_079224	Q9H8M7	F188A_HUMAN	Homo sapiens family with sequence similarity 188, member A (FAM188A), mRNA.	157					apoptosis	nucleus	calcium ion binding			breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	22						ACTTCTGAACGATCTTTTTCT	0.289000														51			40		0	0	1	0	0
ECE1	1889	broad.mit.edu	37	1	21573804	21573804	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr1:21573804G>A	uc001bek.2	-	8	1148	c.1073C>T	c.(1072-1074)cCc>cTc	p.P358L	ECE1_uc001bem.2_Missense_Mutation_p.P342L|ECE1_uc001bej.2_Missense_Mutation_p.P346L|ECE1_uc001bei.2_Missense_Mutation_p.P355L|ECE1_uc010odl.1_Missense_Mutation_p.P358L|ECE1_uc009vqa.1_Missense_Mutation_p.P358L	NM_001397	NP_001388	P42892	ECE1_HUMAN	Homo sapiens endothelin converting enzyme 1 (ECE1), transcript variant 1, mRNA.	358					bradykinin catabolic process|calcitonin catabolic process|ear development|embryonic digit morphogenesis|endothelin maturation|heart development|positive regulation of receptor recycling|substance P catabolic process	Weibel-Palade body|early endosome|external side of plasma membrane|integral to membrane|intrinsic to endosome membrane|membrane fraction|perinuclear region of cytoplasm|plasma membrane	metal ion binding|metalloendopeptidase activity|protein homodimerization activity			endometrium(5)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	25		Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206)		GATCTCCACGGGGTAGAAGAT	0.522000														68			52		0	0	1	0	0
SLC22A13	9390	broad.mit.edu	37	3	38307645	38307645	+	Silent	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr3:38307645C>T	uc003chz.3	+	0	348	c.294C>T	c.(292-294)atC>atT	p.I98I	SLC22A13_uc011aym.1_Non-coding_Transcript|SLC22A13_uc011ayn.1_Silent_p.I98I	NM_004256	NP_004247	Q9Y226	S22AD_HUMAN	Homo sapiens solute carrier family 22 (organic anion transporter), member 13 (SLC22A13), mRNA.	98						integral to plasma membrane	organic cation transmembrane transporter activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|urinary_tract(1)	20				KIRC - Kidney renal clear cell carcinoma(284;0.0533)|Kidney(284;0.067)		TGCAGGACATCCTCAGCCACC	0.587000														38			48		0	0	1	0	0
HDAC9	9734	broad.mit.edu	37	7	18801871	18801871	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr7:18801871G>A	uc003sui.3	+	13	2176	c.2135G>A	c.(2134-2136)gGa>gAa	p.G712E	HDAC9_uc003sue.3_Missense_Mutation_p.G709E|HDAC9_uc011jyd.2_Missense_Mutation_p.G709E|HDAC9_uc003suh.3_Missense_Mutation_p.G709E|HDAC9_uc003suj.3_Missense_Mutation_p.G668E|HDAC9_uc003sua.1_Missense_Mutation_p.G687E	NM_178425	NP_848512	Q9UKV0	HDAC9_HUMAN	Homo sapiens histone deacetylase 9 (HDAC9), transcript variant 5, mRNA.	709	Histone deacetylase.				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	CCCCTGGACGGACAGAAGCTG	0.512000														30			17		0	0	1	0	0
ZNF521	25925	broad.mit.edu	37	18	22804495	22804495	+	Silent	SNP	C	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr18:22804495C>A	uc002kvk.2	-	3	3634	c.3387G>T	c.(3385-3387)ggG>ggT	p.G1129G	ZNF521_uc010xbe.1_Non-coding_Transcript|ZNF521_uc010dly.2_Silent_p.G1129G|ZNF521_uc002kvl.2_Silent_p.G909G	NM_015461	NP_056276	Q96K83	ZN521_HUMAN	Homo sapiens zinc finger protein 521 (ZNF521), mRNA.	1129					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					CCTTGCCTTTCCCCTCAATGG	0.542000			T	PAX5	ALL									44			55		8.99859e-20	9.10459e-20	1	1	0
RABEP1	9135	broad.mit.edu	37	17	5286422	5286422	+	Silent	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr17:5286422G>A	uc002gbm.4	+	17	2717	c.2493G>A	c.(2491-2493)caG>caA	p.Q831Q	RABEP1_uc010vsw.1_Silent_p.Q788Q|RABEP1_uc002gbl.4_Silent_p.Q798Q|NUP88_uc002gbn.3_Intron	NM_004703	NP_004694	Q15276	RABE1_HUMAN	Homo sapiens rabaptin, RAB GTPase binding effector protein 1 (RABEP1), transcript variant 1, mRNA.	831					apoptosis|cellular membrane fusion|endocytosis|protein transport	centrosome|early endosome|endocytic vesicle|recycling endosome	GTPase activator activity|growth factor activity|protein homodimerization activity	p.V830V(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	8						TCCAGGTGCAGTTAGAGCGGA	0.463000														59			39		0	0	1	0	0
ENAM	10117	broad.mit.edu	37	4	71508043	71508043	+	Silent	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr4:71508043G>A	uc011caw.1	+	8	1181	c.900G>A	c.(898-900)caG>caA	p.Q300Q		NM_031889	NP_114095	Q9NRM1	ENAM_HUMAN	Homo sapiens enamelin (ENAM), mRNA.	300					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			CTTCAGGCCAGGGAGGGCCAG	0.493000														80			55		0	0	1	0	0
TF	7018	broad.mit.edu	37	3	133483724	133483724	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr3:133483724G>A	uc003epu.2	+	15	3031	c.1303G>A	c.(1303-1305)Gat>Aat	p.D435N	TF_uc011blt.2_Missense_Mutation_p.D308N|TF_uc003epw.2_Intron|TF_uc003epv.2_Missense_Mutation_p.D435N	NM_001063	NP_001054	P02787	TRFE_HUMAN	Homo sapiens transferrin (TF), mRNA.	435	Transferrin-like 2.				cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport	apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule	ferric iron binding			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49					Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893)	TGCAGAGAGCGATAATTGTGA	0.358000														53			47		0	0	1	0	0
HGSNAT	138050	broad.mit.edu	37	8	43037367	43037367	+	Silent	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr8:43037367C>T	uc003xpx.4	+	10	1140	c.1092C>T	c.(1090-1092)ctC>ctT	p.L364L		NM_152419	NP_689632	Q68CP4	HGNAT_HUMAN	Homo sapiens heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT), mRNA.	392					lysosomal transport|protein oligomerization	integral to membrane|lysosomal membrane	heparan-alpha-glucosaminide N-acetyltransferase activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(6)	13	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)			TGTTGGAGCTCCTCTTTGCTA	0.418000														278			231		0	0	1	0	0
COL8A2	1296	broad.mit.edu	37	1	36564631	36564631	+	Silent	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr1:36564631C>T	uc001bzv.2	-	1	658	c.651G>A	c.(649-651)ggG>ggA	p.G217G	COL8A2_uc001bzw.2_Silent_p.G152G	NM_005202	NP_005193	P25067	CO8A2_HUMAN	Homo sapiens collagen, type VIII, alpha 2 (COL8A2), mRNA.	217	Triple-helical region.				angiogenesis|cell-cell adhesion|extracellular matrix organization	basement membrane|collagen	extracellular matrix structural constituent|protein binding, bridging			NS(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GCCCTGGGGCCCCAGGCAGCC	0.721000														21			12		0	0	1	0	0
SLC39A10	57181	broad.mit.edu	37	2	196592924	196592924	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr2:196592924C>T	uc002utg.4	+	8	2402	c.2188C>T	c.(2188-2190)Caa>Taa	p.Q730*	SLC39A10_uc002uth.4_Nonsense_Mutation_p.Q730*|SLC39A10_uc010zgp.2_Nonsense_Mutation_p.Q280*	NM_001127257	NP_065075	Q9ULF5	S39AA_HUMAN	Homo sapiens solute carrier family 39 (zinc transporter), member 10 (SLC39A10), transcript variant 1, mRNA.	730					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(16)|pancreas(1)|prostate(1)|skin(2)	34			OV - Ovarian serous cystadenocarcinoma(117;0.221)			GACTGTAAAGCAAGCAATTGT	0.393000														63			51		0	0	1	0	0
BAIAP2	10458	broad.mit.edu	37	17	79031757	79031757	+	Silent	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr17:79031757C>T	uc002jzg.2	+	2	315	c.207C>T	c.(205-207)tcC>tcT	p.S69S	BAIAP2_uc002jyz.4_Silent_p.S69S|BAIAP2_uc002jza.2_Silent_p.S69S|BAIAP2_uc002jzc.2_Silent_p.S69S|BAIAP2_uc002jzb.2_5'UTR|BAIAP2_uc010wuh.1_Intron|BAIAP2_uc002jzd.2_Silent_p.S69S|BAIAP2_uc002jzf.2_Silent_p.S69S|BAIAP2_uc002jze.2_Silent_p.S102S	NM_017451	NP_059345	Q9UQB8	BAIP2_HUMAN	Homo sapiens BAI1-associated protein 2 (BAIAP2), transcript variant 2, mRNA.	69	IMD.				axonogenesis|filopodium assembly|insulin receptor signaling pathway|regulation of actin cytoskeleton organization|response to bacterium	cell junction|cytoskeleton|cytosol|filopodium|nucleus|ruffle	SH3 domain binding|cytoskeletal adaptor activity|proline-rich region binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)	18	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			GCCAGGGCTCCAAAGAACTCG	0.622000														10			12		0	0	1	0	0
MYOZ1	58529	broad.mit.edu	37	10	75391900	75391900	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr10:75391900C>T	uc001jur.3	-	5	1053	c.688G>A	c.(688-690)Gga>Aga	p.G230R		NM_021245	NP_067068	Q9NP98	MYOZ1_HUMAN	Homo sapiens myozenin 1 (MYOZ1), mRNA.	230					myofibril assembly	nucleus|pseudopodium	FATZ binding			central_nervous_system(1)|large_intestine(5)|lung(2)|ovary(2)|skin(2)	12	Prostate(51;0.0112)					TTCTCATATCCACCATAGGGC	0.473000														61			34		0	0	1	0	0
OR4C46	119749	broad.mit.edu	37	11	51515336	51515337	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr11:51515336_51515337CC>TT	uc010ric.2	+	0	55_56	c.55_56CC>TT	c.(55-57)cca>TTa	p.P19L		NM_001004703	NP_001004703	A6NHA9	O4C46_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 46 (OR4C46), mRNA.	19					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						TACAGAGAATCCAAAGATGCAG	0.361000														78			42		0	0	1	0	0
ZNF423	23090	broad.mit.edu	37	16	49671389	49671390	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr16:49671389_49671390GG>AA	uc002efs.3	-	4	1971_1972	c.1673_1674CC>TT	c.(1672-1674)tcc>tTT	p.S558F	ZNF423_uc010vgn.2_Missense_Mutation_p.S441F	NM_015069	NP_055884	Q2M1K9	ZN423_HUMAN	Homo sapiens zinc finger protein 423 (ZNF423), mRNA.	558					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				CCTCCATGAAGGACTGCGTGGG	0.559000														81			60		0	0	1	0	0
LZTR1	8216	broad.mit.edu	37	22	21344742	21344742	+	Missense_Mutation	SNP	T	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr22:21344742T>A	uc002zto.3	+	7	822	c.719T>A	c.(718-720)aTg>aAg	p.M240K	LZTR1_uc002ztn.3_Missense_Mutation_p.M199K|LZTR1_uc011ahy.2_Missense_Mutation_p.M221K|LZTR1_uc010gsr.1_Missense_Mutation_p.M111K	NM_006767	NP_006758	Q8N653	LZTR1_HUMAN	Homo sapiens leucine-zipper-like transcription regulator 1 (LZTR1), mRNA.	240					anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			CGGGACAAGATGTTTGTATTC	0.577000														81			5		0	0	1	0	0
ZFP42	132625	broad.mit.edu	37	4	188924561	188924561	+	Silent	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr4:188924561G>A	uc003izh.1	+	3	1008	c.600G>A	c.(598-600)agG>agA	p.R200R	ZFP42_uc003izi.1_Silent_p.R200R|ZFP42_uc021xvm.1_Silent_p.R200R	NM_174900	NP_777560	Q96MM3	ZFP42_HUMAN	Homo sapiens zinc finger protein 42 homolog (mouse) (ZFP42), mRNA.	200					female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		GGAAGTTGAGGAATAGAGCTG	0.483000														117			83		0	0	1	0	0
GCNT1	2650	broad.mit.edu	37	9	79117387	79117387	+	Silent	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr9:79117387C>T	uc022bif.1	+	0	90	c.90C>T	c.(88-90)tcC>tcT	p.S30S	GCNT1_uc010mpf.3_Silent_p.S30S|GCNT1_uc010mpg.3_Silent_p.S30S|GCNT1_uc010mph.3_Silent_p.S30S|GCNT1_uc004akf.4_Silent_p.S30S|GCNT1_uc010mpi.3_Silent_p.S30S|GCNT1_uc004akh.4_Silent_p.S30S	NM_001490	NP_001481	Q02742	GCNT1_HUMAN	Homo sapiens glucosaminyl (N-acetyl) transferase 1, core 2 (GCNT1), transcript variant 2, mRNA.	30					protein O-linked glycosylation	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(11)|prostate(2)|urinary_tract(1)	30						TCACCTTCTCCGTTTTAAGGA	0.383000														4			39		0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36873589	36873589	+	Silent	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr3:36873589C>T	uc003cgj.3	-	20	7601	c.7353G>A	c.(7351-7353)aaG>aaA	p.K2451K		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	2451					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						CCTTGTCCTTCTTGCTAAACA	0.512000														97			79		0	0	1	0	0
JAKMIP3	282973	broad.mit.edu	37	10	133931028	133931028	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr10:133931028G>A	uc001lkx.4	+	1	583	c.583G>A	c.(583-585)Gag>Aag	p.E195K		NM_001105521	NP_001098991			Homo sapiens Janus kinase and microtubule interacting protein 3 (JAKMIP3), mRNA.											breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		CCTGCACCAGGAGGAGATCAC	0.672000														9			9		0	0	1	0	0
ENPEP	2028	broad.mit.edu	37	4	111470996	111470996	+	Silent	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr4:111470996C>T	uc003iab.4	+	16	2797	c.2455C>T	c.(2455-2457)Ctg>Ttg	p.L819L		NM_001977	NP_001968	Q07075	AMPE_HUMAN	Homo sapiens glutamyl aminopeptidase (aminopeptidase A) (ENPEP), mRNA.	819					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	AAAAGAAAAACTGCTGTATGG	0.353000														32			26		0	0	1	0	0
PDSS2	57107	broad.mit.edu	37	6	107475898	107475898	+	Silent	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr6:107475898G>A	uc003prt.2	-	7	1415	c.1125C>T	c.(1123-1125)gcC>gcT	p.A375A	PDSS2_uc011eak.1_Silent_p.A239A|PDSS2_uc011eal.1_Silent_p.A273A	NM_020381	NP_065114	Q86YH6	DLP1_HUMAN	Homo sapiens prenyl (decaprenyl) diphosphate synthase, subunit 2 (PDSS2), mRNA.	375					isoprenoid biosynthetic process|ubiquinone biosynthetic process	mitochondrion	protein heterodimerization activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)	19	Breast(9;0.0127)	all_cancers(87;3.63e-05)|Acute lymphoblastic leukemia(125;2.86e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.0108)|Colorectal(196;0.156)|Lung NSC(302;0.211)	BRCA - Breast invasive adenocarcinoma(8;0.0101)|all cancers(7;0.243)	BRCA - Breast invasive adenocarcinoma(108;0.112)|OV - Ovarian serous cystadenocarcinoma(136;0.173)|all cancers(137;0.191)		AGCTCTCCAGGGCCTCCAGTG	0.433000														44			24		0	0	1	0	0
MERTK	10461	broad.mit.edu	37	2	112751971	112751971	+	Silent	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr2:112751971C>T	uc002thk.1	+	8	1562	c.1440C>T	c.(1438-1440)atC>atT	p.I480I	MERTK_uc002thl.1_Silent_p.I304I	NM_006343	NP_006334	Q12866	MERTK_HUMAN	Homo sapiens c-mer proto-oncogene tyrosine kinase (MERTK), mRNA.	480	Fibronectin type-III 2.				cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						AAATATTTATCCCTGCACACG	0.527000														118			95		0	0	1	0	0
OR51L1	119682	broad.mit.edu	37	11	5020306	5020306	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr11:5020306C>T	uc010qyu.2	+	0	94	c.94C>T	c.(94-96)Ctc>Ttc	p.L32F		NM_001004755	NP_001004755	Q8NGJ5	O51L1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily L, member 1 (OR51L1), mRNA.	32					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(19)|skin(2)|stomach(1)	31		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCTCTCCATCCTCTTCTGTCT	0.428000														98			53		0	0	1	0	0
RTN1	6252	broad.mit.edu	37	14	60193679	60193679	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr14:60193679G>A	uc001xen.1	-	2	1932	c.1723C>T	c.(1723-1725)Cct>Tct	p.P575S	RTN1_uc001xem.1_Missense_Mutation_p.P155S	NM_021136	NP_066959	Q16799	RTN1_HUMAN	Homo sapiens reticulon 1 (RTN1), transcript variant 1, mRNA.	575					neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity			central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		GGGGCGCCAGGACCTAGAGGC	0.587000														12			16		0	0	1	0	0
OR2L8	391190	broad.mit.edu	37	1	248112944	248112944	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr1:248112944G>A	uc001idt.1	+	0	785	c.785G>A	c.(784-786)aGa>aAa	p.R262K	OR2L13_uc001ids.3_Intron	NM_001001963	NP_001001963	Q8NGY9	OR2L8_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily L, member 8 (OR2L8), mRNA.	262					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			CTACGTCCAAGATCCCTGCGA	0.488000														143			62		0	0	1	0	0
MC2R	4158	broad.mit.edu	37	18	13885332	13885332	+	Silent	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr18:13885332G>A	uc002ksp.1	-	1	363	c.186C>T	c.(184-186)ttC>ttT	p.F62F	MC2R_uc021uhs.1_Silent_p.F62F	NM_000529	NP_000520	Q01718	ACTHR_HUMAN	Homo sapiens melanocortin 2 receptor (adrenocorticotropic hormone) (MC2R), mRNA.	62					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	corticotropin receptor activity|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30					Corticotropin(DB01285)|Cosyntropin(DB01284)	AGCTACAGATGAAAAAGTACA	0.408000														42			36		0	0	1	0	0
LYPD1	116372	broad.mit.edu	37	2	133403807	133403807	+	Silent	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr2:133403807G>A	uc002ttm.4	-	3	385	c.285C>T	c.(283-285)atC>atT	p.I95I	GPR39_uc002ttl.3_3'UTR|LYPD1_uc002ttn.3_Silent_p.I79I|LYPD1_uc002tto.3_Silent_p.I27I	NM_001077427	NP_001070895	Q8N2G4	LYPD1_HUMAN	Homo sapiens LY6/PLAUR domain containing 1 (LYPD1), transcript variant 2, mRNA.	79	UPAR/Ly6.					anchored to membrane|plasma membrane				lung(2)	2						CGGCAGAGGCGATGAGACAGG	0.547000														35			17		0	0	1	0	0
LOC100101266	100101266	broad.mit.edu	37	19	24346135	24346135	+	RNA	SNP	T	G	G			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr19:24346135T>G	uc010edb.1	-	0		c.115A>C								Homo sapiens hepatitis A virus cellular receptor 1 pseudogene (LOC100101266), non-coding RNA.																		AGTGGCAGGGTAGCGTGATAG	0.488000														25			6		0	0	1	0	0
ASL	435	broad.mit.edu	37	7	65552756	65552756	+	Silent	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr7:65552756C>T	uc003tup.3	+	8	931	c.696C>T	c.(694-696)gcC>gcT	p.A232A	ASL_uc003tuo.3_Silent_p.A232A|ASL_uc003tur.3_Silent_p.A206A|ASL_uc003tuq.3_Silent_p.A232A	NM_001024943	NP_001020114	P04424	ARLY_HUMAN	Homo sapiens argininosuccinate lyase (ASL), transcript variant 1, mRNA.	232					arginine biosynthetic process via ornithine|arginine catabolic process|urea cycle	cytosol	argininosuccinate lyase activity			breast(3)|endometrium(3)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	18					L-Arginine(DB00125)	GCATGGATGCCACTAGTGAGC	0.612000														54			33		0	0	1	0	0
KIAA1109	84162	broad.mit.edu	37	4	123268917	123268917	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr4:123268917C>T	uc003ieh.3	+	73	13157	c.13112C>T	c.(13111-13113)tCt>tTt	p.S4371F	KIAA1109_uc003iem.3_Missense_Mutation_p.S727F	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	Homo sapiens KIAA1109 (KIAA1109), mRNA.	4371					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						GTATCTGATTCTTCAGTTCCT	0.428000														43			45		0	0	1	0	0
ZNF496	84838	broad.mit.edu	37	1	247492775	247492775	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr1:247492775G>A	uc009xgv.3	-	0	143	c.106C>T	c.(106-108)Ccc>Tcc	p.P36S	ZNF496_uc001ico.3_Missense_Mutation_p.P36S|ZNF496_uc010pyv.1_Missense_Mutation_p.P36S	NM_032752	NP_116141	Q96IT1	ZN496_HUMAN	Homo sapiens zinc finger protein 496 (ZNF496), mRNA.	36					positive regulation of transcription, DNA-dependent|viral reproduction		DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	36	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		OV - Ovarian serous cystadenocarcinoma(106;0.00703)			TCGGGGCTGGGAAGCTCCCCC	0.697000														143			80		0	0	1	0	0
FAM75C1	441452	broad.mit.edu	37	9	90536629	90536629	+	Missense_Mutation	SNP	C	G	G			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr9:90536629C>G	uc010mqi.3	+	3	1836	c.1807C>G	c.(1807-1809)Cgt>Ggt	p.R603G	FAM75C1_uc004apq.4_Missense_Mutation_p.R586G	NM_001145124	NP_001138596			Homo sapiens family with sequence similarity 75, member C1 (FAM75C1), mRNA.																		CGTGAGTGTGCGTCGATCCTG	0.507000														170			11		0	0	1	0	0
FCRL3	115352	broad.mit.edu	37	1	157666952	157666952	+	Silent	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr1:157666952C>T	uc001fqz.4	-	5	1114	c.822G>A	c.(820-822)ctG>ctA	p.L274L	FCRL3_uc001fqx.4_Non-coding_Transcript|FCRL3_uc001fqy.4_Non-coding_Transcript|FCRL3_uc009wsn.3_Intron|FCRL3_uc009wso.3_Non-coding_Transcript|FCRL3_uc001fra.3_5'UTR|FCRL3_uc001frb.3_Silent_p.L274L|FCRL3_uc001frc.1_Silent_p.L274L	NM_052939	NP_443171	Q96P31	FCRL3_HUMAN	Homo sapiens Fc receptor-like 3 (FCRL3), mRNA.	274						integral to membrane|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					TCTGAGATCTCAGGCTCCTTT	0.542000														75			60		0	0	1	0	0
DEPTOR	64798	broad.mit.edu	37	8	121013890	121013890	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr8:121013890G>A	uc003yow.4	+	4	918	c.731G>A	c.(730-732)aGt>aAt	p.S244N	DEPTOR_uc011lid.2_Missense_Mutation_p.S143N	NM_022783	NP_073620	Q8TB45	DPTOR_HUMAN	Homo sapiens DEP domain containing MTOR-interacting protein (DEPTOR), mRNA.	244	Ser-rich.				intracellular signal transduction|negative regulation of TOR signaling cascade|negative regulation of cell size|negative regulation of protein kinase activity|regulation of apoptosis	intracellular	protein binding			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	18						ACTCATGACAGTCCCTTCTGC	0.498000														48			37		0	0	1	0	0
DDN	23109	broad.mit.edu	37	12	49391192	49391192	+	Silent	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr12:49391192G>A	uc001rsv.1	-	1	1485	c.1467C>T	c.(1465-1467)tcC>tcT	p.S489S		NM_015086	NP_055901	O94850	DEND_HUMAN	Homo sapiens dendrin (DDN), mRNA.	489	Interaction with CD2AP and NPHS1 (By similarity).					dendritic spine membrane|endoplasmic reticulum membrane|nucleus|perikaryon				NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	8						ATTGGCTGGGGGAATCCCCCA	0.607000														49			36		0	0	1	0	0
PSMB6	5694	broad.mit.edu	37	17	4701364	4701365	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr17:4701364_4701365GG>AA	uc002fzb.3	+	4	526_527	c.493_494GG>AA	c.(493-495)ggg>AAg	p.G165K		NM_002798	NP_002789	P28072	PSB6_HUMAN	Homo sapiens proteasome (prosome, macropain) subunit, beta type, 6 (PSMB6), mRNA.	165					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|interspecies interaction between organisms|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity			endometrium(3)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11						TGGAGGCTCCGGGAGCTCCTAC	0.530000														115			97		0	0	1	0	0
OTOGL	283310	broad.mit.edu	37	12	80615990	80615990	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr12:80615990G>A	uc001szd.3	+	5	433	c.427G>A	c.(427-429)Gac>Aac	p.D143N		NM_173591	NP_775862			Homo sapiens otogelin-like (OTOGL), mRNA.											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						TTTTGCAAAGGACTGTGGTGA	0.368000														4			41		0	0	1	0	0
MPV17L2	84769	broad.mit.edu	37	19	18304781	18304781	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr19:18304781C>T	uc010ebj.3	+	0	722	c.103C>T	c.(103-105)Ctc>Ttc	p.L35F	MPV17L2_uc002nid.3_Missense_Mutation_p.L99F			Q567V2	M17L2_HUMAN	Homo sapiens MPV17 mitochondrial membrane protein-like 2 (MPV17L2), nuclear gene encoding mitochondrial protein, mRNA.	99						integral to membrane				large_intestine(1)|lung(2)|urinary_tract(1)	4						CCCAAATGTCCTCAAGAAGGT	0.577000														51			33		0	0	1	0	0
SIM1	6492	broad.mit.edu	37	6	100896510	100896510	+	Silent	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr6:100896510C>T	uc003pqj.4	-	5	1055	c.588G>A	c.(586-588)ctG>ctA	p.L196L	SIM1_uc021zdg.1_Silent_p.L196L|SIM1_uc010kcu.3_Silent_p.L196L	NM_005068	NP_005059	P81133	SIM1_HUMAN	Homo sapiens single-minded homolog 1 (Drosophila) (SIM1), mRNA.	196					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		GGGACATGTCCAGGCTGTACT	0.617000														49			42		0	0	1	0	0
LOC649330	649330	broad.mit.edu	37	1	12907643	12907643	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr1:12907643C>T	uc010obf.2	-	1	726	c.500G>A	c.(499-501)cGg>cAg	p.R167Q	LOC649330_uc009vno.2_Missense_Mutation_p.R167Q	NM_001013631	NP_001013653	B7ZW38	B7ZW38_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein C-like 1 (HNRNPCL1), mRNA.	167							nucleic acid binding|nucleotide binding	p.R167L(1)									GGAAGATCCCCGCTTTCCACT	0.483000														168			115		0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103557622	103557622	+	Silent	SNP	T	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr7:103557622T>A	uc022ajr.1	-	1	397	c.237A>T	c.(235-237)tcA>tcT	p.S79S	RELN_uc022ajq.1_Silent_p.S79S|RELN_uc010liz.3_Silent_p.S79S	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	79	Reelin.				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		AGGTGCTTGTTGAAATTGTCA	0.363000														31			34		0	0	1	0	0
MIDN	90007	broad.mit.edu	37	19	1254187	1254187	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr19:1254187C>T	uc002lrp.3	+	4	921	c.406C>T	c.(406-408)Cgt>Tgt	p.R136C		NM_177401	NP_796375	Q504T8	MIDN_HUMAN	Homo sapiens midnolin (MIDN), mRNA.	136						nucleolus				NS(1)|endometrium(3)|kidney(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTGTCGGGCCGTTCGCCACT	0.692000														17			15		0	0	1	0	0
VWA2	340706	broad.mit.edu	37	10	116045812	116045812	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr10:116045812G>A	uc001lbl.1	+	10	1433	c.1112G>A	c.(1111-1113)cGg>cAg	p.R371Q	VWA2_uc001lbk.1_Missense_Mutation_p.R371Q|VWA2_uc009xyf.1_Missense_Mutation_p.R67Q	NM_198496	NP_940898	Q5GFL6	VWA2_HUMAN	Homo sapiens von Willebrand factor A domain containing 2 (VWA2), mRNA.	371	VWFA 2.					extracellular region				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Epithelial(162;0.036)|all cancers(201;0.0793)		CGGTTTGTGCGGGCCGTGCTG	0.652000														145			124		0	0	1	0	0
CCDC33	80125	broad.mit.edu	37	15	74565197	74565197	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr15:74565197G>A	uc002axo.3	+	6	1118	c.724G>A	c.(724-726)Gac>Aac	p.D242N	CCDC33_uc002axp.3_Missense_Mutation_p.D64N	NM_025055	NP_079331	Q8N5R6	CCD33_HUMAN	Homo sapiens coiled-coil domain containing 33 (CCDC33), transcript variant 1, mRNA.	445	C2.						protein binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						GATGAACTTTGACGTGCCTCG	0.592000														68			63		0	0	1	0	0
C5orf34	375444	broad.mit.edu	37	5	43503849	43503849	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr5:43503849C>T	uc003jnz.2	-	4	1348	c.946G>A	c.(946-948)Gat>Aat	p.D316N		NM_198566	NP_940968	Q96MH7	CE034_HUMAN	Homo sapiens chromosome 5 open reading frame 34 (C5orf34), mRNA.	316										breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|stomach(2)	21	Lung NSC(6;2.07e-05)					AAAAGTGAATCACAAAAATTC	0.348000														38			35		0	0	1	0	0
AGXT2L1	64850	broad.mit.edu	37	4	109670554	109670554	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr4:109670554C>T	uc003hzc.3	-	7	948	c.767G>A	c.(766-768)gGg>gAg	p.G256E	AGXT2L1_uc010imc.3_Missense_Mutation_p.G250E|AGXT2L1_uc011cfm.2_Missense_Mutation_p.G216E|AGXT2L1_uc011cfn.2_Missense_Mutation_p.G183E|AGXT2L1_uc011cfo.2_Missense_Mutation_p.G198E	NM_031279	NP_112569	Q8TBG4	AT2L1_HUMAN	Homo sapiens alanine-glyoxylate aminotransferase 2-like 1 (AGXT2L1), transcript variant 1, mRNA.	256					cellular amino acid metabolic process	mitochondrion	alanine-glyoxylate transaminase activity|pyridoxal phosphate binding			autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(1)	25				OV - Ovarian serous cystadenocarcinoma(123;0.000281)		GAAATGTTTCCCAACTCTGCC	0.498000														82			51		0	0	1	0	0
C1orf159	54991	broad.mit.edu	37	1	1019419	1019419	+	Silent	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr1:1019419G>A	uc001act.2	-	10	1410	c.924C>T	c.(922-924)ccC>ccT	p.P308P	C1orf159_uc001acu.2_Intron|C1orf159_uc001acr.2_Non-coding_Transcript|C1orf159_uc001acs.2_Non-coding_Transcript|C1orf159_uc010nyd.1_Non-coding_Transcript|C1orf159_uc001acn.2_Silent_p.P272P	NM_017891	NP_060361	Q96HA4	CA159_HUMAN	Homo sapiens chromosome 1 open reading frame 159 (C1orf159), mRNA.	308						integral to membrane						all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.96e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.77e-22)|Colorectal(212;6.51e-05)|COAD - Colon adenocarcinoma(227;0.000214)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|Kidney(185;0.00254)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)		GCAGGTATTGGGGGTCTGCCC	0.642000														13			13		0	0	1	0	0
SIGLEC5	8778	broad.mit.edu	37	19	52130747	52130747	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr19:52130747C>T	uc002pxe.3	-	5	1389	c.1250G>A	c.(1249-1251)gGg>gAg	p.G417E		NM_003830	NP_003821	O15389	SIGL5_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 5 (SIGLEC5), mRNA.	417					cell adhesion	integral to membrane	sugar binding	p.G417V(2)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		all_neural(266;0.0726)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)		GCTCTGGGACCCATAGATGTT	0.637000														125			107		0	0	1	0	0
TOR2A	27433	broad.mit.edu	37	9	130495726	130495726	+	Silent	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr9:130495726G>A	uc004brs.4	-	2	610	c.531C>T	c.(529-531)ttC>ttT	p.F177F	TOR2A_uc022bnq.1_Silent_p.F15F|TOR2A_uc004bru.4_Silent_p.F15F|TOR2A_uc004brv.4_3'UTR|TOR2A_uc011maj.2_3'UTR|TOR2A_uc004brt.4_Silent_p.F177F|TOR2A_uc004brw.4_Silent_p.F177F	NM_001085347	NP_001078816	Q5JU69	TOR2A_HUMAN	Homo sapiens torsin family 2, member A (TOR2A), transcript variant 1, mRNA.	177					chaperone mediated protein folding requiring cofactor	endoplasmic reticulum|extracellular region	ATP binding|nucleoside-triphosphatase activity			NS(1)|endometrium(2)	3						AGGAGCCCAGGAAAGGCCGCA	0.617000														3			26		0	0	1	0	0
DCAF4L2	138009	broad.mit.edu	37	8	88885781	88885781	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr8:88885781G>A	uc003ydz.3	-	0	516	c.419C>T	c.(418-420)tCc>tTc	p.S140F		NM_152418	NP_689631	Q8NA75	DC4L2_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 4-like 2 (DCAF4L2), mRNA.	140										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						CAGAAGGTGGGAATCCAAGTG	0.562000														83			67		0	0	1	0	0
USP6	9098	broad.mit.edu	37	17	5045411	5045411	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr17:5045411G>A	uc002gau.1	+	23	3917	c.1687G>A	c.(1687-1689)Ggg>Agg	p.G563R	USP6_uc002gav.1_Missense_Mutation_p.G563R|USP6_uc010ckz.1_Missense_Mutation_p.G246R	NM_004505	NP_004496	P35125	UBP6_HUMAN	Homo sapiens ubiquitin specific peptidase 6 (Tre-2 oncogene) (USP6), mRNA.	563					protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	Rab GTPase activator activity|calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						TTTTATCTCAGGGAGACATCT	0.428000			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts									59			74		0	0	1	0	0
CASC1	55259	broad.mit.edu	37	12	25299953	25299953	+	Missense_Mutation	SNP	T	C	C			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr12:25299953T>C	uc001rgk.3	-	7	753	c.671A>G	c.(670-672)aAc>aGc	p.N224S	CASC1_uc001rgj.3_Missense_Mutation_p.N178S|CASC1_uc001rgm.4_Missense_Mutation_p.N282S|CASC1_uc001rgl.3_Missense_Mutation_p.N218S|CASC1_uc010sje.2_Missense_Mutation_p.N159S|CASC1_uc010sjf.2_Missense_Mutation_p.N106S|CASC1_uc010sjg.1_Missense_Mutation_p.N218S	NM_018272	NP_060742	Q6TDU7	CASC1_HUMAN	Homo sapiens cancer susceptibility candidate 1 (CASC1), transcript variant 1, mRNA.	218										breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(3)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11)		OV - Ovarian serous cystadenocarcinoma(3;7.42e-20)|Epithelial(3;7.58e-16)|all cancers(3;1.07e-13)			CTTCTTGAGGTTTGCCCACAC	0.408000														34			36		0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168104261	168104261	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr2:168104261C>T	uc002udx.3	+	8	6448	c.6359C>T	c.(6358-6360)aCc>aTc	p.T2120I	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.T1945I|XIRP2_uc010fpq.3_Missense_Mutation_p.T1898I|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	1945	Pro-rich.				actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GCTGGTAAAACCGTTGGAAAG	0.353000														33			38		0	0	1	0	0
BOC	91653	broad.mit.edu	37	3	112991981	112991981	+	Missense_Mutation	SNP	A	G	G			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr3:112991981A>G	uc003dzx.3	+	7	1648	c.1027A>G	c.(1027-1029)Acc>Gcc	p.T343A	BOC_uc003dzy.3_Missense_Mutation_p.T343A|BOC_uc003dzz.3_Missense_Mutation_p.T343A|BOC_uc003eab.3_Missense_Mutation_p.T44A	NM_033254	NP_150279	Q9BWV1	BOC_HUMAN	Homo sapiens Boc homolog (mouse) (BOC), mRNA.	343	Ig-like C2-type 4.				cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			TGCCAAGCTTACCTGTGAGGT	0.657000														76			51		0	0	1	0	0
TMEM213	155006	broad.mit.edu	37	7	138482856	138482856	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr7:138482856C>T	uc010lna.3	+	0	118	c.7C>T	c.(7-9)Cgc>Tgc	p.R3C	ATP6V0A4_uc003vug.3_5'UTR|ATP6V0A4_uc003vuh.3_5'UTR|TMEM213_uc010lnb.3_Missense_Mutation_p.R3C	NM_001085429	NP_001078898	A2RRL7	TM213_HUMAN	Homo sapiens transmembrane protein 213 (TMEM213), mRNA.	3						integral to membrane		p.Q2fs*7(3)		breast(1)|endometrium(3)|kidney(1)|lung(1)	6						CAGCATGCAGCGCCTCCCCGC	0.657000														7			3		0	0	1	0	0
ZNF99	7652	broad.mit.edu	37	19	22940573	22940573	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr19:22940573G>A	uc021urt.1	-	3	2293	c.2138C>T	c.(2137-2139)gCt>gTt	p.A713V		NM_001080409	NP_001073878			Homo sapiens zinc finger protein 99 (ZNF99), mRNA.									p.L713F(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				CTGGCTAAAAGCTTTGCCACA	0.378000														26			17		0	0	1	0	0
TRBV7-6	28592	broad.mit.edu	37	7	142139747	142139747	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr7:142139747C>T	uc003vyt.3	-	0	69	c.24G>A	c.(22-24)tgG>tgA	p.W8*	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|TRBV7-6_uc011krv.1_5'Flank					SubName: Full=V_segment translation product; Flags: Fragment;																		CCAGGACCACCCAGCATAGGA	0.532000														77			54		0	0	1	0	0
POLQ	10721	broad.mit.edu	37	3	121208248	121208248	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr3:121208248G>A	uc003eee.4	-	15	3659	c.3530C>T	c.(3529-3531)tCa>tTa	p.S1177L	POLQ_uc003eed.3_Missense_Mutation_p.S349L	NM_199420	NP_955452	O75417	DPOLQ_HUMAN	Homo sapiens polymerase (DNA directed), theta (POLQ), mRNA.	1177					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA-directed DNA polymerase activity|damaged DNA binding|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		CTGGTTTTTTGAACCATTTTG	0.388000								DNA polymerases (catalytic subunits)						93			75		0	0	1	0	0
PHF7	51533	broad.mit.edu	37	3	52456817	52456817	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr3:52456817G>A	uc003ddy.3	+	9	1645	c.839G>A	c.(838-840)gGa>gAa	p.G280E	PHF7_uc003ddz.3_Missense_Mutation_p.G241E	NM_016483	NP_057567	Q9BWX1	PHF7_HUMAN	Homo sapiens PHD finger protein 7 (PHF7), transcript variant 1, mRNA.	280						nucleus	zinc ion binding			breast(2)|large_intestine(4)|lung(3)	9				BRCA - Breast invasive adenocarcinoma(193;1.71e-05)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)|OV - Ovarian serous cystadenocarcinoma(275;0.0275)		GGATCCCACGGAACCCACAGG	0.552000														117			97		0	0	1	0	0
PKHD1	5314	broad.mit.edu	37	6	51889710	51889710	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr6:51889710G>A	uc003pah.1	-	31	5174	c.4898C>T	c.(4897-4899)tCt>tTt	p.S1633F	PKHD1_uc003pai.3_Missense_Mutation_p.S1633F	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	1633	IPT/TIG 11.				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CAGGGCAACAGAGCCATTCCC	0.488000														124			117		0	0	1	0	0
GOLPH3L	55204	broad.mit.edu	37	1	150620935	150620935	+	Silent	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr1:150620935G>A	uc001evj.2	-	4	937	c.720C>T	c.(718-720)tcC>tcT	p.S240S	GOLPH3L_uc010pci.1_Silent_p.S196S	NM_018178	NP_060648	Q9H4A5	GLP3L_HUMAN	Homo sapiens golgi phosphoprotein 3-like (GOLPH3L), mRNA.	240						Golgi cisterna membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)	8	all_cancers(9;3.09e-52)|all_epithelial(9;4.47e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000615)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;1.2e-23)|all cancers(9;4.81e-23)|OV - Ovarian serous cystadenocarcinoma(6;1.93e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171)			CTGTCAGAGAGGAGAAGACAT	0.498000														85			134		0	0	1	0	0
NLRC5	84166	broad.mit.edu	37	16	57060214	57060214	+	Silent	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr16:57060214C>T	uc021tiu.1	+	4	1486	c.1359C>T	c.(1357-1359)ccC>ccT	p.P453P	NLRC5_uc021tit.1_Silent_p.P453P|NLRC5_uc010ccq.1_Non-coding_Transcript|NLRC5_uc021tiv.1_Silent_p.P258P|NLRC5_uc021tiw.1_Silent_p.P258P|NLRC5_uc010ccr.1_Non-coding_Transcript	NM_032206	NP_115582	Q86WI3	NLRC5_HUMAN	Homo sapiens NLR family, CARD domain containing 5 (NLRC5), mRNA.	453	NACHT.		P -> L (in dbSNP:rs9938543).		defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|RNA polymerase II core promoter sequence-specific DNA binding|protein binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				GGCACTTGCCCACCTCGTCCC	0.597000														71			55		0	0	1	0	0
COL6A6	131873	broad.mit.edu	37	3	130368181	130368181	+	Silent	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr3:130368181C>T	uc010htl.3	+	31	5539	c.5508C>T	c.(5506-5508)tcC>tcT	p.S1836S	COL6A6_uc003eni.4_Intron	NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	Homo sapiens collagen, type VI, alpha 6 (COL6A6), mRNA.	1836	Nonhelical region.|VWFA 8.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						ATGAGAGATCCTCTGCCAGCA	0.493000														12			10		0	0	1	0	0
THBS2	7058	broad.mit.edu	37	6	169628232	169628232	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr6:169628232C>T	uc003qwt.3	-	15	2652	c.2404G>A	c.(2404-2406)Gac>Aac	p.D802N		NM_003247	NP_003238	P35442	TSP2_HUMAN	Homo sapiens thrombospondin 2 (THBS2), mRNA.	802					cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		CCATCAATGTCCACGGAGCAG	0.532000														32			27		0	0	1	0	0
IRX1	79192	broad.mit.edu	37	5	3600771	3600771	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr5:3600771C>T	uc003jde.3	+	2	1413	c.1361C>T	c.(1360-1362)tCg>tTg	p.S454L		NM_024337	NP_077313	P78414	IRX1_HUMAN	Homo sapiens iroquois homeobox 1 (IRX1), mRNA.	454						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						CAGTTAAAGTCGCCCTTCCAG	0.637000														85			71		0	0	1	0	0
CDC42BPA	8476	broad.mit.edu	37	1	227221059	227221059	+	Silent	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr1:227221059C>T	uc001hqr.3	-	25	4372	c.3429G>A	c.(3427-3429)cgG>cgA	p.R1143R	CDC42BPA_uc001hqq.3_Silent_p.R442R|CDC42BPA_uc001hqs.3_Silent_p.R1062R|CDC42BPA_uc009xes.3_Silent_p.R1115R|CDC42BPA_uc010pvs.2_Silent_p.R1123R|CDC42BPA_uc001hqp.3_Silent_p.R299R|CDC42BPA_uc001hqt.2_Silent_p.R21R|CDC42BPA_uc001hqu.1_Silent_p.R350R	NM_003607	NP_003598	Q5VT25	MRCKA_HUMAN	Homo sapiens CDC42 binding protein kinase alpha (DMPK-like) (CDC42BPA), transcript variant B, mRNA.	1156	PH.				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity	p.D1143H(2)		NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				GTATATCTTTCCGACTTGCAT	0.338000														27			27		0	0	1	0	0
LY6E	4061	broad.mit.edu	37	8	144103157	144103157	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr8:144103157C>T	uc003yxn.2	+	3	501	c.347C>T	c.(346-348)gCc>gTc	p.A116V	LY6E_uc003yxm.2_Missense_Mutation_p.A116V|LY6E_uc003yxo.2_Non-coding_Transcript	NM_001127213	NP_002337	Q16553	LY6E_HUMAN	Homo sapiens lymphocyte antigen 6 complex, locus E (LY6E), transcript variant 2, mRNA.	116					cell surface receptor linked signaling pathway	anchored to membrane|integral to plasma membrane				endometrium(1)|kidney(3)|large_intestine(2)|lung(1)	7	all_cancers(97;1.94e-10)|all_epithelial(106;1.22e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					CTGCTGGGTGCCGGGCTGCTG	0.677000														86			37		0	0	1	0	0
KRT31	3881	broad.mit.edu	37	17	39553664	39553664	+	Missense_Mutation	SNP	T	C	C			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr17:39553664T>C	uc002hwn.3	-	0	181	c.128A>G	c.(127-129)aAc>aGc	p.N43S	KRT31_uc010cxn.3_Missense_Mutation_p.N43S	NM_002277	NP_002268	Q15323	K1H1_HUMAN	Homo sapiens keratin 31 (KRT31), mRNA.	43	Head.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	31		Breast(137;0.000496)				CCAGTTGCAGTTGCTCACATT	0.642000														86			73		0	0	1	0	0
OR5L2	26338	broad.mit.edu	37	11	55595173	55595173	+	Missense_Mutation	SNP	C	T	T	rs148523172		TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr11:55595173C>T	uc001nhy.1	+	0	479	c.479C>T	c.(478-480)tCg>tTg	p.S160L		NM_001004739	NP_001004739	Q8NGL0	OR5L2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily L, member 2 (OR5L2), mRNA.	160					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				CTGATTCACTCGTCCTTAGCT	0.483000										HNSCC(27;0.073)				125			119		0	0	1	0	0
TMEM104	54868	broad.mit.edu	37	17	72773476	72773476	+	Missense_Mutation	SNP	G	A	A	rs112926186		TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr17:72773476G>A	uc002jls.4	+	1	169	c.7G>A	c.(7-9)Ggt>Agt	p.G3S	NAT9_uc002jlq.3_5'Flank|NAT9_uc002jlr.3_5'Flank|TMEM104_uc010wrf.1_Missense_Mutation_p.G3S|TMEM104_uc010wrg.1_Missense_Mutation_p.G3S|TMEM104_uc010dfx.3_Missense_Mutation_p.G3S	NM_017728	NP_060198	Q8NE00	TM104_HUMAN	Homo sapiens transmembrane protein 104 (TMEM104), mRNA.	3						integral to membrane		p.A2V(1)		NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(1)	19	all_lung(278;0.23)					GGAAATGGCGGGTGAAATTAC	0.498000														38			39		0	0	1	0	0
FAM179A	165186	broad.mit.edu	37	2	29222195	29222195	+	Silent	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr2:29222195C>T	uc010ezl.3	+	3	639	c.288C>T	c.(286-288)gcC>gcT	p.A96A	FAM179A_uc010ymm.2_Silent_p.A96A	NM_199280	NP_954974	Q6ZUX3	F179A_HUMAN	Homo sapiens family with sequence similarity 179, member A (FAM179A), mRNA.	96							binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						ACCTCAGGGCCTTGTCTTTGG	0.622000														31			32		0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7661865	7661865	+	Missense_Mutation	SNP	C	T	T	rs140826418		TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr17:7661865C>T	uc002giu.1	+	12	2118	c.2104C>T	c.(2104-2106)Cgg>Tgg	p.R702W		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	702	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.I701F(1)		NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				AGAGCGTATTCGGCTCCTGGA	0.542000														121			111		0	0	1	0	0
UBR4	23352	broad.mit.edu	37	1	19449393	19449393	+	Silent	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr1:19449393G>A	uc001bbi.3	-	65	9754	c.9750C>T	c.(9748-9750)ttC>ttT	p.F3250F	UBR4_uc001bbk.1_Silent_p.F897F	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 4 (UBR4), mRNA.	3250					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)		TTGCCCGGAGGAATATCCCCT	0.582000														89			60		0	0	1	0	0
POTEG	404785	broad.mit.edu	37	14	19553567	19553567	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr14:19553567G>A	uc001vuz.1	+	0	203	c.151G>A	c.(151-153)Gat>Aat	p.D51N	POTEG_uc001vva.1_Non-coding_Transcript|POTEG_uc010ahc.1_Non-coding_Transcript	NM_001005356	NP_001005356	Q6S5H5	POTEG_HUMAN	Homo sapiens POTE ankyrin domain family, member G (POTEG), transcript variant 1, mRNA.	51										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						AGACCACGACGATTCTGCTAT	0.602000														702			81		0	0	1	0	0
PSMD2	5708	broad.mit.edu	37	3	184017647	184017647	+	Silent	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr3:184017647G>A	uc003fnn.1	+	1	177	c.144G>A	c.(142-144)gaG>gaA	p.E48E	PSMD2_uc011brj.1_5'Flank|PSMD2_uc011brk.1_5'Flank	NM_002808	NP_002799	Q13200	PSMD2_HUMAN	Homo sapiens proteasome (prosome, macropain) 26S subunit, non-ATPase, 2 (PSMD2), mRNA.	48					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|liver(1)|lung(12)|prostate(3)|upper_aerodigestive_tract(2)	27	all_cancers(143;1.54e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Bortezomib(DB00188)	AGTCTGAAGAGGATAAACAGC	0.507000														44			45		0	0	1	0	0
BBX	56987	broad.mit.edu	37	3	107491799	107491799	+	Missense_Mutation	SNP	T	C	C			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr3:107491799T>C	uc010hpr.3	+	10	1558	c.1231T>C	c.(1231-1233)Tat>Cat	p.Y411H	BBX_uc003dwk.4_Missense_Mutation_p.Y411H|BBX_uc003dwl.4_Intron|BBX_uc010hps.1_Missense_Mutation_p.Y432H|BBX_uc003dwm.4_Missense_Mutation_p.Y411H|BBX_uc003dwo.4_5'Flank	NM_001142568	NP_001136040	Q8WY36	BBX_HUMAN	Homo sapiens bobby sox homolog (Drosophila) (BBX), transcript variant 1, mRNA.	411					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2)	49			OV - Ovarian serous cystadenocarcinoma(3;0.112)			TGATTTTTCTTATTCTGCCAG	0.348000														45			44		0	0	1	0	0
RAF1	5894	broad.mit.edu	37	3	12645679	12645679	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr3:12645679G>A	uc003bxf.4	-	6	1205	c.790C>T	c.(790-792)Cac>Tac	p.H264Y	RAF1_uc011aut.2_Missense_Mutation_p.H49Y|RAF1_uc011auu.2_Missense_Mutation_p.H182Y	NM_002880	NP_002871	P04049	RAF1_HUMAN	Homo sapiens v-raf-1 murine leukemia viral oncogene homolog 1 (RAF1), mRNA.	264					Ras protein signal transduction|activation of MAPKK activity|apoptosis|axon guidance|cell proliferation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of peptidyl-serine phosphorylation|synaptic transmission	cytosol|mitochondrial outer membrane|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity		ESRP1/RAF1(4)|RAF1/DAZL(2)|SRGAP3/RAF1(6)	biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	32					Sorafenib(DB00398)	CTGACCATGTGGACATTAGGT	0.517000			T	SRGAP3	pilocytic astrocytoma				Noonan syndrome					72			73		0	0	1	0	0
WTIP	126374	broad.mit.edu	37	19	34981377	34981377	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr19:34981377C>T	uc002nvm.3	+	1	764	c.764C>T	c.(763-765)tCg>tTg	p.S255L		NM_001080436	NP_001073905			Homo sapiens Wilms tumor 1 interacting protein (WTIP), mRNA.											NS(1)|large_intestine(2)|lung(1)	4	all_lung(56;5.94e-07)|Lung NSC(56;9.35e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			ACCTGCGACTCGTGTGGTAGG	0.577000														50			46		0	0	1	0	0
MYO7B	4648	broad.mit.edu	37	2	128381890	128381890	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr2:128381890G>A	uc002top.3	+	28	4017	c.3964G>A	c.(3964-3966)Gag>Aag	p.E1322K	MYO7B_uc002toq.1_Missense_Mutation_p.E175K|MYO7B_uc002tor.1_Missense_Mutation_p.E175K	NM_001080527	NP_001073996	Q6PIF6	MYO7B_HUMAN	Homo sapiens myosin VIIB (MYO7B), mRNA.	1322	FERM 1.					apical plasma membrane|myosin complex	ATP binding|actin binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		GTACAGCTTCGAGAAGGTGAG	0.592000														6			4		0	0	1	0	0
CDH15	1013	broad.mit.edu	37	16	89246691	89246691	+	Silent	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr16:89246691C>T	uc002fmt.3	+	2	362	c.285C>T	c.(283-285)ttC>ttT	p.F95F	CDH15_uc010cij.1_Silent_p.F95F	NM_004933	NP_004924	P55291	CAD15_HUMAN	Homo sapiens cadherin 15, type 1, M-cadherin (myotubule) (CDH15), mRNA.	95	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	calcium ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.0261)		GGGGCGTCTTCTCTATCGACA	0.607000														23			19		0	0	1	0	0
KCNQ2	3785	broad.mit.edu	37	20	62044897	62044897	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr20:62044897C>T	uc002yey.1	-	14	1846	c.1669G>A	c.(1669-1671)Gag>Aag	p.E557K	KCNQ2_uc002yez.1_Missense_Mutation_p.E526K|KCNQ2_uc002yfa.1_Missense_Mutation_p.E539K|KCNQ2_uc002yfb.1_Missense_Mutation_p.E529K	NM_172107	NP_742105	O43526	KCNQ2_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 2 (KCNQ2), transcript variant 1, mRNA.	557					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)	CGCAGGCTCTCCTTGAACTTC	0.637000														152			126		0	0	1	0	0
OR2L3	391192	broad.mit.edu	37	1	248224163	248224163	+	Silent	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr1:248224163C>T	uc001idx.1	+	0	180	c.180C>T	c.(178-180)ttC>ttT	p.F60F	OR2L13_uc001ids.3_Intron	NM_001004687	NP_001004687	Q8NG85	OR2L3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily L, member 3 (OR2L3), mRNA.	60					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			CCATGTATTTCCTACTTAGTC	0.403000														446			180		0	0	1	0	0
GRIN3A	116443	broad.mit.edu	37	9	104432780	104432780	+	Silent	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr9:104432780C>T	uc004bbp.2	-	2	2515	c.1914G>A	c.(1912-1914)cgG>cgA	p.R638R	GRIN3A_uc004bbq.1_Silent_p.R638R	NM_133445	NP_597702	Q8TCU5	NMD3A_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl-D-aspartate 3A (GRIN3A), mRNA.	638					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|protein phosphatase 2A binding	p.A637A(1)|p.R638R(1)|p.R638G(1)		breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	TCACCTGGCTCCGTGCAGTAT	0.537000														4			67		0	0	1	0	0
TP53BP2	7159	broad.mit.edu	37	1	223990458	223990458	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr1:223990458G>A	uc001hod.3	-	8	1395	c.584C>T	c.(583-585)gCt>gTt	p.A195V	TP53BP2_uc010pvb.2_Missense_Mutation_p.A324V|TP53BP2_uc010puz.2_5'Flank|TP53BP2_uc010pva.2_5'Flank	NM_005426	NP_005417	Q13625	ASPP2_HUMAN	Homo sapiens tumor protein p53 binding protein, 2 (TP53BP2), transcript variant 2, mRNA.	318					apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction	nucleus|perinuclear region of cytoplasm	NF-kappaB binding|SH3 domain binding|SH3/SH2 adaptor activity|protein binding			NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(131;0.0958)		TTGCTGTAGAGCTGCCTTCTT	0.468000														93			83		0	0	1	0	0
HFM1	164045	broad.mit.edu	37	1	91841143	91841144	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr1:91841143_91841144GG>AA	uc001doa.4	-	11	1635_1636	c.1536_1537CC>TT	c.(1534-1539)accctc>acTTtc	p.L513F	HFM1_uc010osu.2_Missense_Mutation_p.L192F|HFM1_uc010osv.1_Missense_Mutation_p.L197F	NM_001017975	NP_001017975	A2PYH4	HFM1_HUMAN	Homo sapiens HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae) (HFM1), mRNA.	513							ATP binding|ATP-dependent helicase activity|nucleic acid binding	p.L513I(2)|p.L513F(2)		breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		TTGTAGTTGAGGGTTAAATCAA	0.366000														61			48		0	0	1	0	0
ZNF787	126208	broad.mit.edu	37	19	56599507	56599507	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr19:56599507G>A	uc010eth.1	-	2	1153	c.1034C>T	c.(1033-1035)tCg>tTg	p.S345L		NM_001002836	NP_001002836	Q6DD87	ZN787_HUMAN	Homo sapiens zinc finger protein 787 (ZNF787), mRNA.	345					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|lung(2)|pancreas(1)	5		Colorectal(82;3.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0559)		GCTGCAGACCGAGGGCGCGCC	0.746000														20			13		0	0	1	0	0
ZNF705A	440077	broad.mit.edu	37	12	8330144	8330145	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr12:8330144_8330145GG>AA	uc001qud.1	+	4	940_941	c.868_869GG>AA	c.(868-870)ggg>AAg	p.G290K	FAM66C_uc001que.4_5'Flank|FAM66C_uc001quf.4_5'Flank|FAM66C_uc009zgc.3_5'Flank|FAM66C_uc001qug.3_5'Flank	NM_001004328	NP_001004328	Q6ZN79	Z705A_HUMAN	Homo sapiens zinc finger protein 705A (ZNF705A), mRNA.	290					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|skin(3)|stomach(4)	18				Kidney(36;0.0877)		TCTTCTATGTGGGAAGGCCTTC	0.421000														47			13		0	0	1	0	0
WDR72	256764	broad.mit.edu	37	15	54025314	54025314	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr15:54025314C>T	uc002acj.2	-	1	75	c.33G>A	c.(31-33)tgG>tgA	p.W11*	WDR72_uc010bfi.1_Nonsense_Mutation_p.W11*	NM_182758	NP_877435	Q3MJ13	WDR72_HUMAN	Homo sapiens WD repeat domain 72 (WDR72), mRNA.	11										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		CCTTCTGTCCCCAGAGTGCCA	0.502000														58			50		0	0	1	0	0
TRERF1	55809	broad.mit.edu	37	6	42236210	42236210	+	Silent	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr6:42236210G>A	uc003ose.2	-	4	1682	c.1119C>T	c.(1117-1119)tcC>tcT	p.S373S	TRERF1_uc011duq.1_Silent_p.S373S|TRERF1_uc003osb.2_Silent_p.S212S|TRERF1_uc003osc.2_Silent_p.S212S|TRERF1_uc003osd.2_Silent_p.S373S	NM_033502	NP_277037	Q96PN7	TREF1_HUMAN	Homo sapiens transcriptional regulating factor 1 (TRERF1), mRNA.	373	Gln-rich.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			ACTGGGACATGGAGCCCAGGG	0.607000														142			129		0	0	1	0	0
SLC12A3	6559	broad.mit.edu	37	16	56904538	56904538	+	Splice_Site	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr16:56904538G>A	uc002ekd.4	+	6	771	c.742_splice	c.e6-1	p.E248_splice	SLC12A3_uc010ccm.3_Splice_Site_p.E248_splice|SLC12A3_uc010ccn.3_Splice_Site_p.E247_splice	NM_000339	NP_000330	P55017	S12A3_HUMAN	Homo sapiens solute carrier family 12 (sodium/chloride transporters), member 3 (SLC12A3), transcript variant 1, mRNA.	248					sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	CCCTCCCCAGGAGTATGGGGC	0.622000														59			29		0	0	1	0	0
ZNF99	7652	broad.mit.edu	37	19	22941785	22941786	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr19:22941785_22941786CC>TT	uc021urt.1	-	3	1080_1081	c.925_926GG>AA	c.(925-927)gga>AAa	p.G309K		NM_001080409	NP_001073878			Homo sapiens zinc finger protein 99 (ZNF99), mRNA.											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				GGGTTTCTCTCCAGTATGAATT	0.356000														22			22		0	0	1	0	0
IGSF10	285313	broad.mit.edu	37	3	151164229	151164229	+	Silent	SNP	T	C	C			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr3:151164229T>C	uc011bod.2	-	3	3540	c.3540A>G	c.(3538-3540)tcA>tcG	p.S1180S		NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	Homo sapiens immunoglobulin superfamily, member 10 (IGSF10), transcript variant 1, mRNA.	1180					cell differentiation|multicellular organismal development|ossification	extracellular region		p.S1179L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CACCTGAAAGTGACGATGTAA	0.398000														138			115		0	0	1	0	0
PITPNM3	83394	broad.mit.edu	37	17	6367078	6367078	+	Silent	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr17:6367078G>A	uc002gdd.4	-	16	2431	c.2280C>T	c.(2278-2280)gtC>gtT	p.V760V	PITPNM3_uc010cln.3_Silent_p.V724V|PITPNM3_uc010clm.3_Silent_p.V243V|PITPNM3_uc002gdc.4_Silent_p.V351V	NM_031220	NP_112497	Q9BZ71	PITM3_HUMAN	Homo sapiens PITPNM family member 3 (PITPNM3), transcript variant 1, mRNA.	760					phosphatidylinositol metabolic process	endomembrane system|integral to membrane	calcium ion binding|lipid binding|phosphatidylinositol transporter activity|receptor tyrosine kinase binding			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(3)|skin(2)	36				Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185)		CACCCGGCCGGACCTTGGGGT	0.612000														35			24		0	0	1	0	0
ENPEP	2028	broad.mit.edu	37	4	111397773	111397773	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr4:111397773C>T	uc003iab.4	+	0	545	c.203C>T	c.(202-204)tCa>tTa	p.S68L		NM_001977	NP_001968	Q07075	AMPE_HUMAN	Homo sapiens glutamyl aminopeptidase (aminopeptidase A) (ENPEP), mRNA.	68					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	GCCAGCCCCTCAGGTCCTCCT	0.652000														99			93		0	0	1	0	0
BMPER	168667	broad.mit.edu	37	7	34094807	34094807	+	Silent	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr7:34094807C>T	uc011kap.2	+	9	1193	c.819C>T	c.(817-819)tcC>tcT	p.S273S		NM_133468	NP_597725	Q8N8U9	BMPER_HUMAN	Homo sapiens BMP binding endothelial regulator (BMPER), mRNA.	273	VWFC 4.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						GGAAGTGCTCCCACCCTGGTG	0.502000														72			61		0	0	1	0	0
ZNF823	55552	broad.mit.edu	37	19	11833391	11833391	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr19:11833391G>A	uc002msm.2	-	3	1084	c.958C>T	c.(958-960)Cga>Tga	p.R320*	ZNF823_uc010xmd.1_Nonsense_Mutation_p.R138*|ZNF823_uc010dyi.1_Nonsense_Mutation_p.R276*	NM_001080493	NP_001073962	P16415	ZN823_HUMAN	Homo sapiens zinc finger protein 823 (ZNF823), mRNA.	320					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)	26						ATGTGTCTTCGAAAGCTTGTG	0.413000										HNSCC(68;0.2)				46			49		0	0	1	0	0
UNC13A	23025	broad.mit.edu	37	19	17729310	17729310	+	Splice_Site	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr19:17729310C>T	uc021uqk.1	-	39	4369	c.4327_splice	c.e39-1	p.D1443_splice		NM_001080421	NP_001073890	Q9UPW8	UN13A_HUMAN	Homo sapiens unc-13 homolog A (C. elegans) (UNC13A), mRNA.	1444	MHD2.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						ACCATGTGATCCTGGATGGAT	0.577000														8			3		0	0	1	0	0
HP1BP3	50809	broad.mit.edu	37	1	21071422	21071422	+	Silent	SNP	T	C	C			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr1:21071422T>C	uc001bdy.1	-	11	1630	c.1530A>G	c.(1528-1530)agA>agG	p.R510R	HP1BP3_uc001bdv.1_Silent_p.R472R|HP1BP3_uc001bdw.1_Silent_p.R510R|HP1BP3_uc010odh.1_Silent_p.R472R|HP1BP3_uc010odf.1_Silent_p.R169R|HP1BP3_uc010odg.1_Silent_p.R358R	NM_016287	NP_057371	Q5SSJ5	HP1B3_HUMAN	Homo sapiens heterochromatin protein 1, binding protein 3 (HP1BP3), mRNA.	510	Lys-rich.				nucleosome assembly	nucleosome|nucleus	DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(2)|skin(2)|urinary_tract(1)	16		all_lung(284;6.55e-06)|Lung NSC(340;6.59e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.26e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00015)|GBM - Glioblastoma multiforme(114;0.000521)|Kidney(64;0.000529)|STAD - Stomach adenocarcinoma(196;0.00311)|KIRC - Kidney renal clear cell carcinoma(64;0.00687)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.201)		TGGATGAGGGTCTGGTCTTCT	0.532000														38			38		0	0	1	0	0
ATP6V0A4	50617	broad.mit.edu	37	7	138437472	138437472	+	Silent	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr7:138437472C>T	uc003vuf.3	-	9	1165	c.927G>A	c.(925-927)ctG>ctA	p.L309L	ATP6V0A4_uc003vug.3_Silent_p.L309L|ATP6V0A4_uc003vuh.3_Silent_p.L309L	NM_130841	NP_570856	Q9HBG4	VPP4_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal V0 subunit a4 (ATP6V0A4), transcript variant 3, mRNA.	309					cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity	p.L309L(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						TGCACATGTTCAGGATGTGGT	0.572000														50			44		0	0	1	0	0
SIPA1L2	57568	broad.mit.edu	37	1	232619607	232619607	+	Missense_Mutation	SNP	G	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr1:232619607G>T	uc001hvg.3	-	3	2070	c.1912C>A	c.(1912-1914)Ctt>Att	p.L638I		NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 2 (SIPA1L2), mRNA.	638	Rap-GAP.				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)				AGAAGATCAAGGAATTCTTCA	0.433000														45			35		7.04047e-22	7.14211e-22	1	1	0
ATP13A2	23400	broad.mit.edu	37	1	17326773	17326773	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr1:17326773G>A	uc001baa.2	-	9	1065	c.875C>T	c.(874-876)tCc>tTc	p.S292F	ATP13A2_uc001bac.2_Missense_Mutation_p.S287F|ATP13A2_uc001bab.2_Missense_Mutation_p.S287F|ATP13A2_uc009vpa.1_Missense_Mutation_p.S5F|ATP13A2_uc001bad.1_Missense_Mutation_p.S5F	NM_022089	NP_071372	Q9NQ11	AT132_HUMAN	Homo sapiens ATPase type 13A2 (ATP13A2), transcript variant 1, mRNA.	292					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)		CACCCGCATGGACAACTTGAC	0.711000														9			9		0	0	1	0	0
CHST1	8534	broad.mit.edu	37	11	45672405	45672405	+	Silent	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr11:45672405G>A	uc021qgn.1	-	0	69	c.69C>T	c.(67-69)atC>atT	p.I23I	CHST1_uc001mys.2_Silent_p.I23I	NM_003654	NP_003645	O43916	CHST1_HUMAN	Homo sapiens carbohydrate (keratan sulfate Gal-6) sulfotransferase 1 (CHST1), mRNA.	23					galactose metabolic process|inflammatory response|keratan sulfate metabolic process	Golgi membrane|integral to membrane	keratan sulfotransferase activity			breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)		TGAAGGTGCGGATGGCCGTGT	0.647000														76			58		0	0	1	0	0
AK310228	0	broad.mit.edu	37	16	16465386	16465386	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr16:16465386C>T	uc002dey.2	+	0	390	c.103C>T	c.(103-105)Cgg>Tgg	p.R35W						SubName: Full=cDNA FLJ42525 fis, clone BRACE3001391, highly similar to Polycystin;																		CTGGGCTGCCCGGGGCCACTG	0.692000														53			29		0	0	1	0	0
RNF112	7732	broad.mit.edu	37	17	19317818	19317818	+	Splice_Site	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr17:19317818G>A	uc010vyw.2	+	8	1164	c.933_splice	c.e8+1	p.Q311_splice	RNF112_uc021tsa.1_Splice_Site|RNF112_uc010vyx.1_Splice_Site_p.Q194_splice	NM_007148	NP_009079	Q7Z5V9	Q7Z5V9_HUMAN	Homo sapiens ring finger protein 112 (RNF112), mRNA.	311							GTP binding|GTPase activity|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|urinary_tract(1)	12						TGCCAATCCAGGTGAGACACC	0.577000														63			57		0	0	1	0	0
FBXL7	23194	broad.mit.edu	37	5	15936872	15936872	+	Silent	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr5:15936872C>T	uc003jfn.1	+	3	1534	c.1053C>T	c.(1051-1053)cgC>cgT	p.R351R		NM_012304	NP_036436	Q9UJT9	FBXL7_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 7 (FBXL7), mRNA.	351					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						TGGAGTCCCGCCTGCGGTACC	0.657000														17			13		0	0	1	0	0
PRRG1	5638	broad.mit.edu	37	X	37312578	37312578	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chrX:37312578C>T	uc004ddn.3	+	4	614	c.361C>T	c.(361-363)Cct>Tct	p.P121S	PRRG1_uc004ddo.3_Missense_Mutation_p.P121S|PRRG1_uc022buu.1_Missense_Mutation_p.P121S|PRRG1_uc022buv.1_Missense_Mutation_p.P121S	NM_000950	NP_001166961	O14668	TMG1_HUMAN	Homo sapiens proline rich Gla (G-carboxyglutamic acid) 1 (PRRG1), transcript variant 1, mRNA.	121						extracellular region|integral to plasma membrane	calcium ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	15						AGGCCACATTCCTTTCCCTCA	0.458000														3			72		0	0	1	0	0
INA	9118	broad.mit.edu	37	10	105048322	105048322	+	Missense_Mutation	SNP	A	G	G			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr10:105048322A>G	uc001kws.3	+	2	1445	c.1396A>G	c.(1396-1398)Ata>Gta	p.I466V		NM_032727	NP_116116	Q16352	AINX_HUMAN	Homo sapiens internexin neuronal intermediate filament protein, alpha (INA), mRNA.	466	Tail.				cell differentiation|nervous system development	neurofilament	structural constituent of cytoskeleton			breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)	13				Epithelial(162;3.45e-09)|all cancers(201;9.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)		AACCTCCCAGATAGGGGAAAG	0.403000														46			58		0	0	1	0	0
PHOX2B	8929	broad.mit.edu	37	4	41748105	41748105	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr4:41748105C>T	uc003gwf.4	-	2	1024	c.664G>A	c.(664-666)Gga>Aga	p.G222R		NM_003924	NP_003915	Q99453	PHX2B_HUMAN	Homo sapiens paired-like homeobox 2b (PHOX2B), mRNA.	222					positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	p.G216fs*88(1)		autonomic_ganglia(7)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	30						cccggagctccagccgggctg	0.821000			"""Mis, F"""		neuroblastoma	neuroblastoma	congenital central hypoventilation syndrome		Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome					12			20		0	0	1	0	0
OR4A15	81328	broad.mit.edu	37	11	55136266	55136266	+	Silent	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr11:55136266C>T	uc010rif.2	+	0	907	c.907C>T	c.(907-909)Cta>Tta	p.L303L		NM_001005275	NP_001005275	Q8NGL6	O4A15_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 15 (OR4A15), mRNA.	303					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						GACTGTAGTTCTAACTTTTAT	0.383000														95			74		0	0	1	0	0
ZNF534	147658	broad.mit.edu	37	19	52942411	52942411	+	Silent	SNP	G	A	A	rs113700997		TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr19:52942411G>A	uc002pzk.3	+	3	1804	c.1737G>A	c.(1735-1737)gcG>gcA	p.A579A	ZNF534_uc002pzj.1_Intron|ZNF534_uc010epo.1_Intron|ZNF534_uc002pzl.3_Silent_p.A566A	NM_001143939	NP_001137411	Q76KX8	ZN534_HUMAN	Homo sapiens zinc finger protein 534 (ZNF534), transcript variant 2, mRNA.	579					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.A579A(4)		central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	4						CACACCTTGCGCGACATAGGA	0.443000														11			3		0	0	1	0	0
TLR4	7099	broad.mit.edu	37	9	120466791	120466791	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr9:120466791C>T	uc004bjz.3	+	0	332	c.41C>T	c.(40-42)gCc>gTc	p.A14V	TLR4_uc004bkb.3_5'UTR|TLR4_uc004bka.3_5'UTR	NM_138554	NP_612564	O00206	TLR4_HUMAN	Homo sapiens toll-like receptor 4 (TLR4), transcript variant 1, mRNA.	14					I-kappaB phosphorylation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T-helper 1 type immune response|Toll signaling pathway|activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|innate immune response|intestinal epithelial structure maintenance|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						CTGATCCCAGCCATGGCCTTC	0.602000														7			40		0	0	1	0	0
FAM194A	131831	broad.mit.edu	37	3	150398319	150398319	+	Silent	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr3:150398319C>T	uc003eyg.3	-	8	1104	c.1047G>A	c.(1045-1047)caG>caA	p.Q349Q	FAM194A_uc003eyh.3_Silent_p.Q203Q	NM_152394	NP_689607	Q7L0X2	F194A_HUMAN	Homo sapiens family with sequence similarity 194, member A (FAM194A), mRNA.	349										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						TTCGTTGCTCCTGTTTCCTAC	0.383000														39			43		0	0	1	0	0
NRXN1	9378	broad.mit.edu	37	2	51254876	51254876	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr2:51254876G>A	uc021vhh.1	-	0	1457	c.536C>T	c.(535-537)cCc>cTc	p.P179L	NRXN1_uc021vhg.1_Missense_Mutation_p.P179L|NRXN1_uc021vhi.1_Missense_Mutation_p.P179L|NRXN1_uc021vhj.1_Missense_Mutation_p.P179L|NRXN1_uc021vhk.1_Missense_Mutation_p.P179L	NM_004801	NP_004792	Q9ULB1	NRX1A_HUMAN	Homo sapiens neurexin 1 (NRXN1), transcript variant alpha1, mRNA.	179	Laminin G-like 1.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CCCCTTGAAGGGCTCCCGCTC	0.687000														15			16		0	0	1	0	0
C19orf45	374877	broad.mit.edu	37	19	7573220	7573220	+	Silent	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr19:7573220C>T	uc002mgm.2	+	8	1563	c.1422C>T	c.(1420-1422)ttC>ttT	p.F474F		NM_198534	NP_940936	Q8NA69	CS045_HUMAN	Homo sapiens chromosome 19 open reading frame 45 (C19orf45), mRNA.	474										endometrium(1)|kidney(1)|liver(1)|lung(2)|ovary(2)|stomach(1)	8						AGGAGGGCTTCGTGCCCCTGG	0.587000														37			21		0	0	1	0	0
ABHD1	84696	broad.mit.edu	37	2	27352463	27352463	+	Missense_Mutation	SNP	C	G	G			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr2:27352463C>G	uc002rit.3	+	4	746	c.586C>G	c.(586-588)Cca>Gca	p.P196A	ABHD1_uc002riu.3_Non-coding_Transcript|ABHD1_uc002riv.3_Non-coding_Transcript	NM_032604	NP_115993	Q96SE0	ABHD1_HUMAN	Homo sapiens abhydrolase domain containing 1 (ABHD1), mRNA.	196						integral to membrane	carboxylesterase activity			endometrium(1)|kidney(1)|lung(3)	5	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCCCCAAGCTCCACTGCTGGC	0.522000														54			43		0	0	1	0	0
ZSCAN20	7579	broad.mit.edu	37	1	33958971	33958971	+	Silent	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr1:33958971C>T	uc001bxj.4	+	6	1796	c.1629C>T	c.(1627-1629)ctC>ctT	p.L543L	ZSCAN20_uc009vui.3_Silent_p.L542L	NM_145238	NP_660281	P17040	ZSC20_HUMAN	Homo sapiens zinc finger and SCAN domain containing 20 (ZSCAN20), mRNA.	543					viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				TCAAAAACCTCCTTCGAAGCT	0.592000														85			80		0	0	1	0	0
LAMA2	3908	broad.mit.edu	37	6	129511366	129511366	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr6:129511366G>A	uc021zfb.1	+	10	1589	c.1484G>A	c.(1483-1485)gGa>gAa	p.G495E	LAMA2_uc003qbn.3_Missense_Mutation_p.G495E|LAMA2_uc003qbo.3_Missense_Mutation_p.G495E	NM_000426	NP_000417	P24043	LAMA2_HUMAN	Homo sapiens laminin, alpha 2 (LAMA2), transcript variant 1, mRNA.	495	Laminin EGF-like 4.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	p.G495G(2)		NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GTTGAAGGAGGAGACTGTAGT	0.408000														23			22		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13809159	13809159	+	Silent	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr5:13809159C>T	uc003jfd.2	-	45	7788	c.7746G>A	c.(7744-7746)caG>caA	p.Q2582Q		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	2582	AAA 3 (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)					ATACCTTGCCCTGTTTAGCAA	0.373000									Kartagener syndrome					71			40		0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	89924538	89924538	+	Silent	SNP	A	G	G			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr5:89924538A>G	uc003kju.3	+	7	1494	c.1398A>G	c.(1396-1398)acA>acG	p.T466T	GPR98_uc003kjt.3_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	466	Calx-beta 4.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TGTTGGCAACAATTCCTCTTA	0.478000														79			64		0	0	1	0	0
TULP1	7287	broad.mit.edu	37	6	35480433	35480433	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr6:35480433G>A	uc003okv.4	-	1	94	c.82C>T	c.(82-84)Ccg>Tcg	p.P28S	TULP1_uc003okw.4_Missense_Mutation_p.P28S|TULP1_uc021yyx.1_Missense_Mutation_p.P28S|TULP1_uc021yyy.1_Missense_Mutation_p.P28S	NM_003322	NP_003313	O00294	TULP1_HUMAN	Homo sapiens tubby like protein 1 (TULP1), mRNA.	28					dendrite development|eye photoreceptor cell development|phagocytosis|photoreceptor cell maintenance|positive regulation of phagocytosis	cell junction|cytoplasm|extracellular region|photoreceptor inner segment|photoreceptor outer segment|synapse	actin filament binding|phosphatidylinositol-4,5-bisphosphate binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	19						GGGCGCCGCGGGGCCTCCGGG	0.627000														85			76		0	0	1	0	0
PRAMEF11	440560	broad.mit.edu	37	1	12887250	12887250	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr1:12887250C>T	uc001auk.2	-	2	803	c.607G>A	c.(607-609)Gat>Aat	p.D203N		NM_001146344	NP_001139816	O60813	PRA11_HUMAN	Homo sapiens PRAME family member 11 (PRAMEF11), mRNA.	203										NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						CGAGAGACATCCATGTGGGAG	0.498000														228			187		0	0	1	0	0
OR4A5	81318	broad.mit.edu	37	11	51412010	51412010	+	Missense_Mutation	SNP	T	G	G			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr11:51412010T>G	uc001nhi.2	-	0	439	c.386A>C	c.(385-387)cAc>cCc	p.H129P		NM_001005272	NP_001005272	Q8NH83	OR4A5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 5 (OR4A5), mRNA.	129					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				GGTCAAATAGTGCAGTGGCTT	0.468000														62			51		0	0	1	0	0
SYNGR2	9144	broad.mit.edu	37	17	76167914	76167914	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr17:76167914C>T	uc002jut.3	+	2	688	c.661C>T	c.(661-663)Cct>Tct	p.P221S	SYNGR2_uc002juu.1_Missense_Mutation_p.A191V			O43760	SNG2_HUMAN	Homo sapiens synaptogyrin 2 (SYNGR2), mRNA.	0						integral to plasma membrane				endometrium(2)|large_intestine(1)|liver(1)|lung(1)|skin(1)|urinary_tract(1)	7			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.0994)			CCCAACACTGCCTACGCCTCC	0.627000														115			109		0	0	1	0	0
NOS1AP	9722	broad.mit.edu	37	1	162337219	162337219	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr1:162337219G>A	uc001gbv.2	+	9	1870	c.1483G>A	c.(1483-1485)Gaa>Aaa	p.E495K	NOS1AP_uc001gbw.2_Missense_Mutation_p.E490K|NOS1AP_uc010pks.1_Non-coding_Transcript|NOS1AP_uc009wut.1_Missense_Mutation_p.E200K	NM_014697	NP_055512	O75052	CAPON_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) adaptor protein (NOS1AP), transcript variant 1, mRNA.	495	Interaction with NOS1 (By similarity).				regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity		PDZ domain binding|nitric-oxide synthase binding	p.E495K(3)|p.E200K(1)		NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32	all_hematologic(112;0.203)		BRCA - Breast invasive adenocarcinoma(70;0.0537)			GCAGAGGCAGGAACTGGGCGA	0.682000														12			9		0	0	1	0	0
DQX1	165545	broad.mit.edu	37	2	74751085	74751085	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr2:74751085G>A	uc010yrw.2	-	3	946	c.781C>T	c.(781-783)Cca>Tca	p.P261S	DQX1_uc002smc.3_5'Flank	NM_133637	NP_598376	Q8TE96	DQX1_HUMAN	Homo sapiens DEAQ box RNA-dependent ATPase 1 (DQX1), mRNA.	261	Helicase C-terminal.					nucleus	ATP binding|helicase activity|nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	18						ACATCTCCTGGAAGCTCCTTC	0.507000														41			47		0	0	1	0	0
MASP2	10747	broad.mit.edu	37	1	11090879	11090879	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr1:11090879G>A	uc001aru.3	-	8	1180	c.1148C>T	c.(1147-1149)cCt>cTt	p.P383L		NM_006610	NP_006601	O00187	MASP2_HUMAN	Homo sapiens mannan-binding lectin serine peptidase 2 (MASP2), transcript variant 1, mRNA.	383	Sushi 2.				complement activation, classical pathway|complement activation, lectin pathway|proteolysis	extracellular region	calcium ion binding|calcium-dependent protein binding|serine-type endopeptidase activity			biliary_tract(1)|endometrium(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.071)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)		GGTCACTCCAGGACCTGTGAT	0.468000														45			40		0	0	1	0	0
SLC12A3	6559	broad.mit.edu	37	16	56947240	56947240	+	Silent	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr16:56947240C>T	uc002ekd.4	+	25	3045	c.3016C>T	c.(3016-3018)Ctg>Ttg	p.L1006L	SLC12A3_uc010ccm.3_Silent_p.L997L|SLC12A3_uc010ccn.3_Silent_p.L1005L	NM_000339	NP_000330	P55017	S12A3_HUMAN	Homo sapiens solute carrier family 12 (sodium/chloride transporters), member 3 (SLC12A3), transcript variant 1, mRNA.	997					sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	GCTGGAGACCCTGTCCCAGGA	0.542000														79			70		0	0	1	0	0
TPTE	7179	broad.mit.edu	37	21	10996046	10996046	+	RNA	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr21:10996046G>A	uc002yis.1	-	11		c.2140C>T						P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 2, mRNA.						signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TAACTGCTCAGAAACAGAGCC	0.383000														53			16		0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	21063074	21063074	+	Silent	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr16:21063074G>A	uc010vbe.2	-	28	4155	c.4155C>T	c.(4153-4155)atC>atT	p.I1385I		NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	1385	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)		CTTCTGTGGTGATAATCTGCA	0.547000														124			88		0	0	1	0	0
PAPL	390928	broad.mit.edu	37	19	39589226	39589226	+	Missense_Mutation	SNP	G	A	A	rs144395661		TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr19:39589226G>A	uc002oki.3	+	2	524	c.250G>A	c.(250-252)Ggg>Agg	p.G84R	PAPL_uc010egl.3_Missense_Mutation_p.G84R	NM_001004318	NP_001004318	Q6ZNF0	PAPL_HUMAN	Homo sapiens iron/zinc purple acid phosphatase-like protein (PAPL), mRNA.	84						extracellular region	acid phosphatase activity|metal ion binding										CTTTGTGGACGGGGGCATTCT	0.652000														49			52		0	0	1	0	0
HMGCS2	3158	broad.mit.edu	37	1	120293520	120293520	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr1:120293520G>A	uc001eid.3	-	8	1520	c.1432C>T	c.(1432-1434)Cca>Tca	p.P478S	HMGCS2_uc010oxj.2_Missense_Mutation_p.P436S|HMGCS2_uc021osw.1_Missense_Mutation_p.P244S	NM_005518	NP_005509	P54868	HMCS2_HUMAN	Homo sapiens 3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial) (HMGCS2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	478					acetoacetic acid biosynthetic process|cholesterol biosynthetic process|isoprenoid biosynthetic process|ketone body biosynthetic process	mitochondrial matrix	hydroxymethylglutaryl-CoA synthase activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28	all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124)		Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595)		TCACCAGGTGGGGAGAAATTC	0.493000														26			23		0	0	1	0	0
ANO3	63982	broad.mit.edu	37	11	26538446	26538446	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr11:26538446G>A	uc001mqt.4	+	5	809	c.664G>A	c.(664-666)Gag>Aag	p.E222K	ANO3_uc010rdr.2_Missense_Mutation_p.E206K|ANO3_uc010rds.2_Missense_Mutation_p.E76K|ANO3_uc010rdt.2_Missense_Mutation_p.E76K	NM_031418	NP_113606	Q9BYT9	ANO3_HUMAN	Homo sapiens anoctamin 3 (ANO3), mRNA.	222						chloride channel complex	chloride channel activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						CAAGTATGCAGAGAGGCTGAA	0.368000														32			24		0	0	1	0	0
KIR2DL2	3803	broad.mit.edu	37	GL000209.1	35661	35661	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chrGL000209.1:35661G>A	uc002qts.2	+	6	897	c.868G>A	c.(868-870)Gag>Aag	p.E290K	KIR2DL2_uc002qtt.2_Intron|KIR2DL2_uc002qtv.3_5'Flank|KIR2DL2_uc010yic.2_5'Flank|KIR2DL2_uc002qty.3_5'Flank	NM_014219	NP_055034	P43627	KI2L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 2 (KIR2DL2), mRNA.	290				SE -> RQ (in Ref. 2; AAB36597).	regulation of immune response	integral to membrane|plasma membrane	receptor activity										AGCGAATAGCGAGGTAGGTAC	0.552000														3			61		0	0	1	0	0
PLCH1	23007	broad.mit.edu	37	3	155311920	155311920	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr3:155311920G>A	uc021xge.1	-	2	521	c.244C>T	c.(244-246)Cac>Tac	p.H82Y	PLCH1_uc021xgd.1_Missense_Mutation_p.H82Y|PLCH1_uc021xgf.1_Missense_Mutation_p.H64Y	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	Homo sapiens phospholipase C, eta 1 (PLCH1), transcript variant 1, mRNA.	82	PH.				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			GCTTGTCTGTGGAATATTTCA	0.493000														35			29		0	0	1	0	0
AATF	26574	broad.mit.edu	37	17	35346687	35346687	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr17:35346687C>T	uc002hni.3	+	6	1542	c.1291C>T	c.(1291-1293)Cca>Tca	p.P431S		NM_012138	NP_036270	Q9NY61	AATF_HUMAN	Homo sapiens apoptosis antagonizing transcription factor (AATF), mRNA.	431	RB1 and SP1 binding.				anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of superoxide anion generation|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to DNA damage stimulus	centrosome|focal adhesion|nucleolus	leucine zipper domain binding|sequence-specific DNA binding transcription factor activity			cervix(2)|endometrium(1)|large_intestine(4)|lung(7)|ovary(2)|skin(2)	18		Breast(25;0.00607)				TCAGCCTGTCCCAGAGAGTTT	0.458000														151			127		0	0	1	0	0
GPN1	11321	broad.mit.edu	37	2	27851919	27851919	+	Silent	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr2:27851919G>A	uc010ymc.2	+	0	57	c.36G>A	c.(34-36)agG>agA	p.R12R	ZNF512_uc010yly.1_Intron|CCDC121_uc002rld.3_5'Flank|CCDC121_uc002rle.3_5'Flank|CCDC121_uc021vfe.1_5'Flank|GPN1_uc010ezf.3_Intron|GPN1_uc010yma.2_Intron|GPN1_uc010ymb.2_Intron|GPN1_uc010ymd.2_5'UTR|GPN1_uc010ezg.1_5'Flank	NM_007266	NP_001138520	Q9HCN4	GPN1_HUMAN	Homo sapiens GPN-loop GTPase 1 (GPN1), transcript variant 1, mRNA.	0						cytoplasm	GTP binding|nucleoside-triphosphatase activity|protein binding			endometrium(1)|large_intestine(1)|lung(12)	14						GTGGGGCCAGGAGGAAGATGG	0.627000														83			75		0	0	1	0	0
GIMAP4	55303	broad.mit.edu	37	7	150270061	150270061	+	Silent	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr7:150270061G>A	uc003whl.3	+	2	985	c.903G>A	c.(901-903)gtG>gtA	p.V301V	GIMAP4_uc011kuu.2_Silent_p.V162V|GIMAP4_uc011kuv.2_Silent_p.V315V	NM_018326	NP_060796	Q9NUV9	GIMA4_HUMAN	Homo sapiens GTPase, IMAP family member 4 (GIMAP4), mRNA.	301							GTP binding			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(82;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GAACGGAAGTGGAGAGTAAGG	0.403000														65			57		0	0	1	0	0
COL5A3	50509	broad.mit.edu	37	19	10100153	10100153	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr19:10100153C>T	uc002mmq.1	-	24	2124	c.2038G>A	c.(2038-2040)Ggc>Agc	p.G680S		NM_015719	NP_056534	P25940	CO5A3_HUMAN	Homo sapiens collagen, type V, alpha 3 (COL5A3), mRNA.	680	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			ACCAGAGGGCCATCGGATCCT	0.547000														50			29		0	0	1	0	0
CHRNA1	1134	broad.mit.edu	37	2	175624215	175624215	+	Splice_Site	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr2:175624215C>T	uc002ujd.2	-	2	267	c.189_splice	c.e2+1	p.V63_splice	BC046497_uc002uiw.3_Intron|CHRNA1_uc002uje.2_Splice_Site_p.V63_splice|CHRNA1_uc002ujf.4_Splice_Site_p.V63_splice	NM_001039523	NP_001034612	P02708	ACHA_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 1 (muscle) (CHRNA1), transcript variant 1, mRNA.	63					muscle cell homeostasis|neuromuscular junction development|neuromuscular process|neuromuscular synaptic transmission|neuron homeostasis|regulation of action potential in neuron|skeletal muscle contraction|skeletal muscle tissue growth	cell junction|cell surface|neuromuscular junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(3)|prostate(3)|skin(4)	37						TCTTGTCTCACCACATTGATG	0.582000														143			90		0	0	1	0	0
C6	729	broad.mit.edu	37	5	41149408	41149408	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr5:41149408G>A	uc003jmk.2	-	16	2768	c.2558C>T	c.(2557-2559)tCa>tTa	p.S853L	C6_uc003jml.1_Missense_Mutation_p.S853L	NM_000065	NP_001108603	P13671	CO6_HUMAN	Homo sapiens complement component 6 (C6), transcript variant 1, mRNA.	853	C5b-binding domain.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				GCTGTTGGATGAAAGTCTTGT	0.423000														129			106		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140230192	140230192	+	Silent	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr5:140230192C>T	uc003lhu.2	+	0	2836	c.2112C>T	c.(2110-2112)atC>atT	p.I704I	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lht.1_Silent_p.I704I	NM_031857	NP_114063	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 9 (PCDHA9), transcript variant 1, mRNA.	712					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)			TCATCGCCATCTGCGCGGTGT	0.662000														11			85		0	0	1	0	0
LHFPL5	222662	broad.mit.edu	37	6	35773804	35773804	+	Silent	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr6:35773804C>T	uc003olg.1	+	0	734	c.357C>T	c.(355-357)ttC>ttT	p.F119F		NM_182548	NP_872354	Q8TAF8	TMHS_HUMAN	Homo sapiens lipoma HMGIC fusion partner-like 5 (LHFPL5), mRNA.	119						integral to membrane				endometrium(4)|large_intestine(4)|lung(7)|prostate(2)|skin(2)|urinary_tract(1)	20						GCCTGTTCTTCATCTGCAACA	0.572000														55			81		0	0	1	0	0
SLC13A3	64849	broad.mit.edu	37	20	45224911	45224911	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr20:45224911G>A	uc002xsf.2	-	4	719	c.679C>T	c.(679-681)Cgt>Tgt	p.R227C	SLC13A3_uc010ghn.2_Missense_Mutation_p.R196C|SLC13A3_uc010zxx.2_Missense_Mutation_p.R129C|SLC13A3_uc010zxw.2_Silent_p.I204I|SLC13A3_uc002xsg.2_Missense_Mutation_p.R180C|SLC13A3_uc010gho.2_Missense_Mutation_p.R180C	NM_022829	NP_073740	Q8WWT9	S13A3_HUMAN	Homo sapiens solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3 (SLC13A3), transcript variant 1, mRNA.	227						integral to membrane|plasma membrane	high affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	ATGTTCCGACGATATTCATCC	0.542000														95			58		0	0	1	0	0
SQLE	6713	broad.mit.edu	37	8	126011774	126011774	+	Silent	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr8:126011774C>T	uc011liq.2	+	0	1055	c.129C>T	c.(127-129)tcC>tcT	p.S43S		NM_003129	NP_003120	Q14534	ERG1_HUMAN	Homo sapiens squalene epoxidase (SQLE), mRNA.	43				S -> F (in Ref. 2; BX647400).	cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome	flavin adenine dinucleotide binding|squalene monooxygenase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	14	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)		Butenafine(DB01091)|Naftifine(DB00735)|Terbinafine(DB00857)	TGGTGCTCTCCTACCGCTGTC	0.582000														42			33		0	0	1	0	0
EPPK1	83481	broad.mit.edu	37	8	144943038	144943038	+	Missense_Mutation	SNP	A	G	G			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr8:144943038A>G	uc003zaa.1	-	0	4397	c.4384T>C	c.(4384-4386)Ttt>Ctt	p.F1462L		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	1462						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CACCCCTTAAACCTCCCTGTG	0.622000														37			24		0	0	1	0	0
MARK4	57787	broad.mit.edu	37	19	45783846	45783846	+	Missense_Mutation	SNP	G	A	A	rs35070611		TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr19:45783846G>A	uc002pbb.2	+	11	1461	c.1130G>A	c.(1129-1131)cGg>cAg	p.R377Q	MARK4_uc002paz.2_3'UTR|MARK4_uc002pba.2_Missense_Mutation_p.R377Q|MARK4_uc002pbc.1_Missense_Mutation_p.R243Q	NM_001199867	NP_001186796	Q96L34	MARK4_HUMAN	Homo sapiens MAP/microtubule affinity-regulating kinase 4 (MARK4), transcript variant 1, mRNA.	377			R -> Q (in dbSNP:rs35070611).		microtubule bundle formation|nervous system development|positive regulation of programmed cell death	centrosome|neuron projection	ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding			NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	31		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)		GGTGGGGACCGGGGCGCCCCA	0.701000														72			88		0	0	1	0	0
PDE3A	5139	broad.mit.edu	37	12	20766634	20766634	+	Splice_Site	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr12:20766634G>A	uc001reh.2	+	3	1309	c.1269_splice	c.e3+1	p.K423_splice	PDE3A_uc021qwa.1_Splice_Site_p.K101_splice	NM_000921	NP_000912	Q14432	PDE3A_HUMAN	Homo sapiens phosphodiesterase 3A, cGMP-inhibited (PDE3A), transcript variant 1, mRNA.	423					lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	CTATTCCAAAGGTAGGTAGTA	0.408000														41			23		0	0	1	0	0
CEACAM6	4680	broad.mit.edu	37	19	42265904	42265904	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr19:42265904C>T	uc002orm.2	+	3	880	c.731C>T	c.(730-732)cCc>cTc	p.P244L		NM_002483	NP_002474	P40199	CEAM6_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 6 (non-specific cross reacting antigen) (CEACAM6), mRNA.	244	Ig-like C2-type 2.				cell-cell signaling|signal transduction	anchored to membrane|integral to plasma membrane				breast(1)|kidney(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.00575)|all cancers(3;0.0352)|Epithelial(262;0.0797)		ACCATTTCCCCCTCAAAGGCC	0.532000														69			43		0	0	1	0	0
FAM89B	23625	broad.mit.edu	37	11	65341036	65341036	+	Missense_Mutation	SNP	C	G	G			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr11:65341036C>G	uc001oel.2	+	1	815	c.494C>G	c.(493-495)cCg>cGg	p.P165R	FAM89B_uc001oem.2_Missense_Mutation_p.P152R|FAM89B_uc001oen.2_3'UTR|EHBP1L1_uc001oeo.4_5'Flank	NM_001098785	NP_001092255	Q8N5H3	FA89B_HUMAN	Homo sapiens family with sequence similarity 89, member B (FAM89B), transcript variant 1, mRNA.	152										large_intestine(1)|urinary_tract(2)	3						CCTCCTGACCCGCCACCCCTT	0.662000														45			48		0	0	1	0	0
ITPR3	3710	broad.mit.edu	37	6	33656487	33656487	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr6:33656487C>T	uc021ywr.1	+	48	6847	c.6623C>T	c.(6622-6624)tCc>tTc	p.S2208F		NM_002224	NP_002215	Q14573	ITPR3_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 3 (ITPR3), mRNA.	2208					G-protein coupled receptor protein signaling pathway|activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						GGCAGCATCTCCTTCAACCTG	0.597000														42			45		0	0	1	0	0
FREM1	158326	broad.mit.edu	37	9	14759816	14759816	+	Missense_Mutation	SNP	A	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr9:14759816A>T	uc003zlm.3	-	28	6104	c.5288T>A	c.(5287-5289)aTt>aAt	p.I1763N	FREM1_uc010mic.3_Intron|FREM1_uc003zlk.3_Non-coding_Transcript|FREM1_uc003zll.3_Missense_Mutation_p.I299N	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	Homo sapiens FRAS1 related extracellular matrix 1 (FREM1), transcript variant 1, mRNA.	1763	Calx-beta.				cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		CCTTCTGATAATTTCCAAGGG	0.393000														3			40		0	0	1	0	0
THADA	63892	broad.mit.edu	37	2	43514064	43514064	+	Missense_Mutation	SNP	T	C	C			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr2:43514064T>C	uc002rsw.4	-	34	5499	c.5147A>G	c.(5146-5148)aAc>aGc	p.N1716S	THADA_uc010far.3_Missense_Mutation_p.N911S|THADA_uc002rsx.4_Missense_Mutation_p.N1716S|THADA_uc002rsy.4_Non-coding_Transcript	NM_001083953	NP_071348	Q6YHU6	THADA_HUMAN	Homo sapiens thyroid adenoma associated (THADA), transcript variant 3, mRNA.	1716							binding			breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				AGGATGGGGGTTGGTGAGGAA	0.458000														53			44		0	0	1	0	0
MARCH7	64844	broad.mit.edu	37	2	160604775	160604775	+	Missense_Mutation	SNP	A	G	G			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr2:160604775A>G	uc002uax.3	+	4	1096	c.974A>G	c.(973-975)cAg>cGg	p.Q325R	MARCH7_uc010foq.3_Missense_Mutation_p.Q325R|MARCH7_uc010zcn.2_Missense_Mutation_p.Q269R|MARCH7_uc010for.3_Missense_Mutation_p.Q287R|MARCH7_uc002uay.3_Non-coding_Transcript	NM_022826	NP_073737	Q9H992	MARH7_HUMAN	Homo sapiens membrane-associated ring finger (C3HC4) 7 (MARCH7), mRNA.	325	Ser-rich.						ligase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(2)	18						ACAGCTTCACAGTCCCGTAGT	0.398000														40			33		0	0	1	0	0
CACNA2D3	55799	broad.mit.edu	37	3	54537587	54537587	+	Silent	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr3:54537587G>A	uc003dhf.3	+	4	498	c.450G>A	c.(448-450)aaG>aaA	p.K150K	CACNA2D3_uc011beu.1_Non-coding_Transcript|CACNA2D3_uc003dhg.1_Silent_p.K56K|CACNA2D3_uc003dhh.1_Non-coding_Transcript|CACNA2D3_uc010hmv.1_Intron	NM_018398	NP_060868	Q8IZS8	CA2D3_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 3 (CACNA2D3), mRNA.	150						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		AGCTGGGAAAGGAATTCATCT	0.373000														44			34		0	0	1	0	0
RAD51B	5890	broad.mit.edu	37	14	68934949	68934949	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr14:68934949G>A	uc001xkf.2	+	9	1095	c.1018G>A	c.(1018-1020)Gaa>Aaa	p.E340K	RAD51B_uc001xkd.3_Missense_Mutation_p.E340K|RAD51B_uc010aqr.3_Missense_Mutation_p.E221K|RAD51B_uc001xke.3_Missense_Mutation_p.E340K|RAD51B_uc001xkg.2_Missense_Mutation_p.E340K	NM_133509	NP_598193	O15315	RA51B_HUMAN	Homo sapiens RAD51 homolog B (S. cerevisiae) (RAD51B), transcript variant 3, mRNA.	340					DNA repair|blood coagulation|reciprocal meiotic recombination	nucleoplasm	ATP binding|DNA binding|DNA-dependent ATPase activity		HMGA2/RAD51B(11)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	11						CATCAAGGAGGAAGGCCTGGT	0.438000								Direct reversal of damage						86			77		0	0	1	0	0
TNKS	8658	broad.mit.edu	37	8	9610056	9610056	+	Missense_Mutation	SNP	G	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr8:9610056G>T	uc003wss.3	+	19	3078	c.3073G>T	c.(3073-3075)Gct>Tct	p.A1025S	TNKS_uc011kww.2_Missense_Mutation_p.A788S	NM_003747	NP_003738	O95271	TNKS1_HUMAN	Homo sapiens tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase (TNKS), mRNA.	1025					Wnt receptor signaling pathway|mRNA transport|mitotic spindle organization|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport	Golgi membrane|chromosome, centromeric region|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding			NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		TGTTTTAGTTGCTGGTCTTGA	0.333000														33			21		1.15919e-05	1.1637e-05	1	1	0
LAMA2	3908	broad.mit.edu	37	6	129712686	129712686	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr6:129712686G>A	uc021zfb.1	+	35	5227	c.5122G>A	c.(5122-5124)Gag>Aag	p.E1708K	LAMA2_uc003qbn.3_Missense_Mutation_p.E1708K|LAMA2_uc003qbo.3_Missense_Mutation_p.E1708K	NM_000426	NP_000417	P24043	LAMA2_HUMAN	Homo sapiens laminin, alpha 2 (LAMA2), transcript variant 1, mRNA.	1708	Domain II and I.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		AACTCGAGACGAGGCCTTTGA	0.363000														75			51		0	0	1	0	0
METTL7B	196410	broad.mit.edu	37	12	56075783	56075783	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr12:56075783G>A	uc010spr.2	+	0	454	c.245G>A	c.(244-246)gGa>gAa	p.G82E		NM_152637	NP_689850	Q6UX53	MET7B_HUMAN	Homo sapiens methyltransferase like 7B (METTL7B), mRNA.	82							methyltransferase activity			kidney(1)|large_intestine(1)|lung(4)	6						TGCGGAACCGGAGCCAACTTT	0.572000														36			44		0	0	1	0	0
FZD3	7976	broad.mit.edu	37	8	28384779	28384779	+	Nonsense_Mutation	SNP	G	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr8:28384779G>T	uc003xgx.3	+	4	1031	c.502G>T	c.(502-504)Gag>Tag	p.E168*	FZD3_uc010lvb.3_Nonsense_Mutation_p.E168*	NM_017412	NP_665873	Q9NPG1	FZD3_HUMAN	Homo sapiens frizzled family receptor 3 (FZD3), transcript variant 1, mRNA.	168					G-protein signaling, coupled to cGMP nucleotide second messenger|canonical Wnt receptor signaling pathway|cell proliferation in midbrain|commissural neuron axon guidance|establishment of planar polarity|facial nucleus development|gonad development|inner ear morphogenesis|neural tube closure|vasculature development	apical part of cell|axon|cytoplasm|dendrite|integral to membrane|neuron projection membrane|neuronal cell body|presynaptic active zone	G-protein coupled receptor activity|PDZ domain binding|Wnt-protein binding	p.R167R(1)		central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(15)|ovary(1)|prostate(1)|skin(1)	41		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.109)|Kidney(114;0.13)|Colorectal(74;0.23)		GTGTCCCCGAGAGTTAAAAAT	0.443000														72			57		5.73376e-24	5.82417e-24	1	1	0
PDS5B	23047	broad.mit.edu	37	13	33344516	33344516	+	Silent	SNP	A	C	C			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr13:33344516A>C	uc010abf.3	+	31	4068	c.3882A>C	c.(3880-3882)ccA>ccC	p.P1294P	PDS5B_uc010abg.3_Non-coding_Transcript	NM_015032	NP_055847	Q9NTI5	PDS5B_HUMAN	Homo sapiens PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae) (PDS5B), mRNA.	1294					cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation	chromatin|nucleus	ATP binding|DNA binding|identical protein binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		GCCGACCACCAAAACCTCTTG	0.428000														43			44		0	0	1	0	0
STARD13	90627	broad.mit.edu	37	13	33703873	33703873	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr13:33703873G>A	uc001uuw.3	-	4	1067	c.941C>T	c.(940-942)tCg>tTg	p.S314L	STARD13_uc001uuu.3_Missense_Mutation_p.S306L|STARD13_uc001uuv.3_Missense_Mutation_p.S196L|STARD13_uc001uux.3_Missense_Mutation_p.S279L|STARD13_uc010abh.1_Missense_Mutation_p.S299L|STARD13_uc021rhz.1_Missense_Mutation_p.S306L|STARD13_uc021ria.1_Missense_Mutation_p.S196L	NM_178006	NP_443083	Q9Y3M8	STA13_HUMAN	Homo sapiens StAR-related lipid transfer (START) domain containing 13 (STARD13), transcript variant 1, mRNA.	314					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		AGGTGGCGGCGAATTCTGGAG	0.602000														89			72		0	0	1	0	0
USP31	57478	broad.mit.edu	37	16	23080528	23080528	+	Missense_Mutation	SNP	C	G	G			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr16:23080528C>G	uc002dll.3	-	15	2898	c.2898G>C	c.(2896-2898)caG>caC	p.Q966H	USP31_uc002dlk.3_Missense_Mutation_p.Q238H|USP31_uc010vca.2_Missense_Mutation_p.Q269H|USP31_uc010bxm.3_Missense_Mutation_p.Q254H	NM_020718	NP_065769	Q70CQ4	UBP31_HUMAN	Homo sapiens ubiquitin specific peptidase 31 (USP31), mRNA.	966	Ser-rich.				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		AATGTTTGCTCTGTGTATCTA	0.542000														91			86		0	0	1	0	0
STYXL1	51657	broad.mit.edu	37	7	75643104	75643104	+	Missense_Mutation	SNP	T	C	C			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr7:75643104T>C	uc003uel.3	-	4	752	c.409A>G	c.(409-411)Acg>Gcg	p.T137A	STYXL1_uc011kgg.2_5'UTR|STYXL1_uc003ueh.3_Intron|STYXL1_uc011kgf.2_Intron|STYXL1_uc003uek.4_Intron|STYXL1_uc003uem.3_Missense_Mutation_p.T137A|STYXL1_uc010ldg.2_Intron|STYXL1_uc010ldh.2_Missense_Mutation_p.T137A|STYXL1_uc003uen.1_Missense_Mutation_p.T137A	NM_016086	NP_057170	Q9Y6J8	STYL1_HUMAN	Homo sapiens serine/threonine/tyrosine interacting-like 1 (STYXL1), mRNA.	137	Rhodanese.				intracellular signal transduction|protein dephosphorylation	intracellular	protein binding|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	10						AAGTGGTACGTGCCTGAGAAG	0.582000														272			165		0	0	1	0	0
ALDH1B1	219	broad.mit.edu	37	9	38397236	38397236	+	Missense_Mutation	SNP	T	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr9:38397236T>A	uc022bgy.1	+	0	1491	c.1491T>A	c.(1489-1491)gaT>gaA	p.D497E	ALDH1B1_uc004aay.3_Missense_Mutation_p.D497E	NM_000692	NP_000683	P30837	AL1B1_HUMAN	Homo sapiens aldehyde dehydrogenase 1 family, member B1 (ALDH1B1), nuclear gene encoding mitochondrial protein, mRNA.	497					carbohydrate metabolic process	mitochondrial matrix|nucleus	aldehyde dehydrogenase (NAD) activity			NS(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(2)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)	NADH(DB00157)	TGGGTGAGGATGGGCTTAAGG	0.552000														8			30		0	0	1	0	0
CFH	3075	broad.mit.edu	37	1	196648897	196648897	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr1:196648897G>A	uc001gtj.4	+	5	1004	c.764G>A	c.(763-765)gGa>gAa	p.G255E	CFH_uc001gti.4_Missense_Mutation_p.G255E|CFH_uc009wyw.3_Missense_Mutation_p.G255E|CFH_uc009wyx.3_Missense_Mutation_p.G191E	NM_000186	NP_000177	P08603	CFAH_HUMAN	Homo sapiens complement factor H (CFH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	255	Sushi 4.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						ACTGAATCTGGATGGCGTCCG	0.308000														36			21		0	0	1	0	0
OR2J2	26707	broad.mit.edu	37	6	29141953	29141953	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr6:29141953G>A	uc011dlm.2	+	0	643	c.541G>A	c.(541-543)Gaa>Aaa	p.E181K		NM_030905	NP_112167	O76002	OR2J2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily J, member 2 (OR2J2), mRNA.	181					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E181*(2)		endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1)	25						CTTCTTCTGTGAAGTTCCAGC	0.448000														130			97		0	0	1	0	0
PPP2R3A	5523	broad.mit.edu	37	3	135722046	135722046	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr3:135722046C>T	uc003eqv.2	+	1	2323	c.1706C>T	c.(1705-1707)cCt>cTt	p.P569L	PPP2R3A_uc011blz.2_Intron	NM_002718	NP_002709	Q06190	P2R3A_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit B'', alpha (PPP2R3A), transcript variant 1, mRNA.	569					protein dephosphorylation	protein phosphatase type 2A complex	calcium ion binding|protein binding|protein phosphatase type 2A regulator activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						AAAGTCTCACCTTCCTGTCTA	0.403000														41			40		0	0	1	0	0
PER3	8863	broad.mit.edu	37	1	7863183	7863183	+	Missense_Mutation	SNP	C	T	T	rs145870917		TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr1:7863183C>T	uc001aop.3	+	7	1173	c.949C>T	c.(949-951)Cgt>Tgt	p.R317C	PER3_uc009vmg.1_Missense_Mutation_p.R317C|PER3_uc009vmh.1_Missense_Mutation_p.R317C|PER3_uc001aoo.3_Missense_Mutation_p.R316C|PER3_uc010nzw.2_5'UTR|PER3_uc001aon.3_Missense_Mutation_p.R316C	NM_016831	NP_058515	P56645	PER3_HUMAN	Homo sapiens period homolog 3 (Drosophila) (PER3), mRNA.	316	PAS 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		CCCTGAAGATCGTTCTCTGAT	0.428000														71			39		0	0	1	0	0
ADAMTS13	11093	broad.mit.edu	37	9	136310084	136310084	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr9:136310084C>T	uc004cdv.4	+	19	2965	c.2521C>T	c.(2521-2523)Cca>Tca	p.P841S	ADAMTS13_uc004cdp.4_Missense_Mutation_p.P68S|ADAMTS13_uc004cdt.1_Missense_Mutation_p.P841S|ADAMTS13_uc004cdu.1_Missense_Mutation_p.P810S|ADAMTS13_uc004cdw.4_Missense_Mutation_p.P841S|ADAMTS13_uc004cdx.4_Missense_Mutation_p.P810S|ADAMTS13_uc004cdy.1_Non-coding_Transcript|ADAMTS13_uc004cdz.4_Missense_Mutation_p.P511S|ADAMTS13_uc004cdr.1_Non-coding_Transcript|ADAMTS13_uc004cds.1_Missense_Mutation_p.P366S	NM_139025	NP_620594	Q76LX8	ATS13_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 13 (ADAMTS13), transcript variant 1, mRNA.	841	TSP type-1 4.				cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis	cell surface|proteinaceous extracellular matrix	calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		CCTGGAGGCTCCAGTGACTGA	0.642000														5			49		0	0	1	0	0
SLC22A14	9389	broad.mit.edu	37	3	38349109	38349109	+	Missense_Mutation	SNP	G	A	A	rs144855969	byFrequency	TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr3:38349109G>A	uc003cib.2	+	2	746	c.673G>A	c.(673-675)Ggc>Agc	p.G225S	SLC22A14_uc010hhc.1_Missense_Mutation_p.G225S|SLC22A14_uc003cia.2_3'UTR|SLC22A14_uc011ayo.1_Non-coding_Transcript	NM_004803	NP_004794	Q9Y267	S22AE_HUMAN	Homo sapiens solute carrier family 22, member 14 (SLC22A14), mRNA.	225						integral to plasma membrane	organic cation transmembrane transporter activity	p.F224F(1)		central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696)		GATCATCTTCGGCTTTGGGAC	0.562000														95			103		0	0	1	0	0
OR10K1	391109	broad.mit.edu	37	1	158435982	158435982	+	Silent	SNP	C	T	T	rs149900631		TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr1:158435982C>T	uc010pij.2	+	0	631	c.631C>T	c.(631-633)Ctg>Ttg	p.L211L		NM_001004473	NP_001004473	Q8NGX5	O10K1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily K, member 1 (OR10K1), mRNA.	211					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27	all_hematologic(112;0.0378)					GGTCATTCCTCTGCTACTTAT	0.488000														97			152		0	0	1	0	0
SMC1B	27127	broad.mit.edu	37	22	45750966	45750967	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr22:45750966_45750967GG>AA	uc003bgc.3	-	19	3042_3043	c.2990_2991CC>TT	c.(2989-2991)gcc>gTT	p.A997V	SMC1B_uc003bgd.3_Missense_Mutation_p.A997V	NM_148674	NP_683515	Q8NDV3	SMC1B_HUMAN	Homo sapiens structural maintenance of chromosomes 1B (SMC1B), mRNA.	997					chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		GCCTAAGGTGGGCCTCGATTTC	0.470000														7			49		0	0	1	0	0
PTHLH	5744	broad.mit.edu	37	12	28116538	28116538	+	Silent	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr12:28116538C>T	uc001rik.3	-	2	570	c.267G>A	c.(265-267)aaG>aaA	p.K89K	PTHLH_uc001ril.3_Silent_p.K89K|PTHLH_uc001rim.3_Silent_p.K89K|PTHLH_uc001rin.3_Silent_p.K89K	NM_198966	NP_945317	P12272	PTHR_HUMAN	Homo sapiens parathyroid hormone-like hormone (PTHLH), transcript variant 4, mRNA.	89					activation of adenylate cyclase activity by G-protein signaling pathway|cAMP metabolic process|cell-cell signaling|epidermis development|female pregnancy|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation	cytoplasm|extracellular space|nucleus	hormone activity|peptide hormone receptor binding			breast(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)|stomach(1)	10	Lung SC(9;0.184)					CGGGGTGGTTCTTTGTGTTGG	0.517000														151			112		0	0	1	0	0
PDE3A	5139	broad.mit.edu	37	12	20792884	20792884	+	Missense_Mutation	SNP	T	G	G			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr12:20792884T>G	uc001reh.2	+	9	2284	c.2244T>G	c.(2242-2244)gaT>gaG	p.D748E	PDE3A_uc021qwa.1_Missense_Mutation_p.D426E	NM_000921	NP_000912	Q14432	PDE3A_HUMAN	Homo sapiens phosphodiesterase 3A, cGMP-inhibited (PDE3A), transcript variant 1, mRNA.	748	Catalytic (By similarity).				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	GATATAGGGATATTCCTTGTA	0.323000														23			15		0	0	1	0	0
CFHR5	81494	broad.mit.edu	37	1	196953113	196953113	+	Silent	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr1:196953113G>A	uc001gts.4	+	2	404	c.276G>A	c.(274-276)gtG>gtA	p.V92V		NM_030787	NP_110414	Q9BXR6	FHR5_HUMAN	Homo sapiens complement factor H-related 5 (CFHR5), mRNA.	92	Sushi 2.				complement activation, alternative pathway	extracellular region				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						TTCCTTTTGTGAAAAATGGTC	0.313000														27			23		0	0	1	0	0
PRMT1	3276	broad.mit.edu	37	19	50189967	50189967	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr19:50189967C>T	uc010enf.2	+	9	1145	c.1016C>T	c.(1015-1017)cCc>cTc	p.P339L	PRMT1_uc021uxu.1_Missense_Mutation_p.P315L|PRMT1_uc002ppe.3_Missense_Mutation_p.P321L|PRMT1_uc021uxv.1_Missense_Mutation_p.P253L|PRMT1_uc010ybb.2_5'Flank|C19orf76_uc002pph.2_5'Flank	NM_001536	NP_001527	Q8WUW5	Q8WUW5_HUMAN	Homo sapiens protein arginine methyltransferase 1 (PRMT1), transcript variant 1, mRNA.	320						cytoplasm	protein methyltransferase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|ovary(2)	12		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00103)|GBM - Glioblastoma multiforme(134;0.012)		GGCATGCGGCCCAACGCCAAG	0.637000														48			32		0	0	1	0	0
CACNB2	783	broad.mit.edu	37	10	18828394	18828394	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr10:18828394C>T	uc001ipr.2	+	13	1784	c.1724C>T	c.(1723-1725)tCc>tTc	p.S575F	CACNB2_uc001ipt.2_Missense_Mutation_p.S537F|CACNB2_uc009xjz.1_Missense_Mutation_p.S325F|CACNB2_uc001ips.2_Missense_Mutation_p.S551F|CACNB2_uc001ipu.3_Missense_Mutation_p.S547F|CACNB2_uc001ipv.3_Missense_Mutation_p.S523F|CACNB2_uc009xka.2_Missense_Mutation_p.S509F|CACNB2_uc001ipw.2_Missense_Mutation_p.S482F|CACNB2_uc001ipx.2_Missense_Mutation_p.S520F|CACNB2_uc001ipz.2_Missense_Mutation_p.S497F|CACNB2_uc001ipy.2_Missense_Mutation_p.S521F|CACNB2_uc010qco.1_Missense_Mutation_p.S489F|CACNB2_uc001iqa.2_Missense_Mutation_p.S527F|NSUN6_uc001iqb.3_Intron	NM_201596	NP_963890	Q08289	CACB2_HUMAN	Homo sapiens calcium channel, voltage-dependent, beta 2 subunit (CACNB2), transcript variant 2, mRNA.	575					axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	GAAGATTATTCCCATGACCAC	0.582000														60			50		0	0	1	0	0
ACTR3B	57180	broad.mit.edu	37	7	152551615	152551615	+	Missense_Mutation	SNP	C	T	T	rs147963548	byFrequency	TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr7:152551615C>T	uc003wle.1	+	11	1351	c.1234C>T	c.(1234-1236)Ccc>Tcc	p.P412S	ACTR3B_uc003wlf.1_Missense_Mutation_p.P342S|ACTR3B_uc003wlg.1_Missense_Mutation_p.P324S|ACTR3B_uc011kvp.1_Missense_Mutation_p.P324S	NM_020445	NP_065178	Q9P1U1	ARP3B_HUMAN	Homo sapiens ARP3 actin-related protein 3 homolog B (yeast) (ACTR3B), transcript variant 1, mRNA.	412					regulation of actin filament polymerization	cell projection|cytoplasm|cytoskeleton	ATP binding|actin binding			breast(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	13		all_hematologic(28;0.0592)|Prostate(32;0.191)	OV - Ovarian serous cystadenocarcinoma(82;0.0287)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0434)		CCGCCACAACCCCGTCTTTGG	0.562000														45			52		0	0	1	0	0
HADH	3033	broad.mit.edu	37	4	108948914	108948914	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr4:108948914G>A	uc003hyq.3	+	5	926	c.707G>A	c.(706-708)cGa>cAa	p.R236Q	HADH_uc010ilx.3_Missense_Mutation_p.R236Q|HADH_uc003hyr.3_Missense_Mutation_p.R240Q	NM_005327	NP_005318	Q16836	HCDH_HUMAN	Homo sapiens hydroxyacyl-CoA dehydrogenase (HADH), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	236					fatty acid beta-oxidation	mitochondrial matrix	3-hydroxyacyl-CoA dehydrogenase activity|NAD+ binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	15		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000168)	NADH(DB00157)	CTGTATGAACGAGGTATCCTT	0.527000														26			30		0	0	1	0	0
TRIM69	140691	broad.mit.edu	37	15	45052046	45052046	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr15:45052046G>A	uc001zuf.2	+	6	1832	c.937G>A	c.(937-939)Gaa>Aaa	p.E313K	TRIM69_uc001zug.1_Missense_Mutation_p.E313K|TRIM69_uc001zuh.1_Missense_Mutation_p.E154K|TRIM69_uc001zui.1_Missense_Mutation_p.E109K|TRIM69_uc010bdy.1_Missense_Mutation_p.E92K	NM_182985	NP_892030	Q86WT6	TRI69_HUMAN	Homo sapiens tripartite motif containing 69 (TRIM69), transcript variant a, mRNA.	313	B30.2/SPRY.				apoptosis	nuclear speck	zinc ion binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(9)|skin(1)	20		all_cancers(109;2.47e-13)|all_epithelial(112;2.84e-11)|Lung NSC(122;2.23e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;5.5e-19)|GBM - Glioblastoma multiforme(94;1.07e-06)|Colorectal(105;0.138)|COAD - Colon adenocarcinoma(120;0.141)		GGTATGGAGGGAAATGCAGGA	0.488000														106			56		0	0	1	0	0
FAM120C	54954	broad.mit.edu	37	X	54162998	54162998	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chrX:54162998C>T	uc004dsz.4	-	4	1267	c.1184G>A	c.(1183-1185)cGa>cAa	p.R395Q	FAM120C_uc011moh.2_Missense_Mutation_p.R395Q	NM_017848	NP_060318	Q9NX05	F120C_HUMAN	Homo sapiens family with sequence similarity 120C (FAM120C), transcript variant 1, mRNA.	395										breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						TTTCTTGAATCGCTCTATTTT	0.398000														5			29		0	0	1	0	0
CPAMD8	27151	broad.mit.edu	37	19	17132982	17132982	+	Silent	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr19:17132982C>T	uc002nfb.3	-	1	275	c.243G>A	c.(241-243)ttG>ttA	p.L81L		NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	Homo sapiens C3 and PZP-like, alpha-2-macroglobulin domain containing 8 (CPAMD8), mRNA.	34						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						GAGCTGCAATCAAGTAACCCC	0.587000														15			12		0	0	1	0	0
DHTKD1	55526	broad.mit.edu	37	10	12129700	12129700	+	Missense_Mutation	SNP	T	C	C			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr10:12129700T>C	uc001ild.4	+	3	788	c.689T>C	c.(688-690)tTg>tCg	p.L230S		NM_018706	NP_061176	Q96HY7	DHTK1_HUMAN	Homo sapiens dehydrogenase E1 and transketolase domain containing 1 (DHTKD1), nuclear gene encoding mitochondrial protein, mRNA.	230					glycolysis	mitochondrion	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			CTGAATTTATTGACAGGCCTT	0.458000														37			35		0	0	1	0	0
WBP1	23559	broad.mit.edu	37	2	74686871	74686871	+	Splice_Site	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr2:74686871G>A	uc002slj.2	+	2	375	c.172_splice	c.e2+1	p.W58_splice	INO80B_uc002sli.2_Splice_Site|WBP1_uc002sll.2_Splice_Site	NM_012477	NP_036609	Q96G27	WBP1_HUMAN	Homo sapiens WW domain binding protein 1 (WBP1), mRNA.	58							WW domain binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	8						ATGAGCTCTGGTGTAAGTCTC	0.567000														81			60		0	0	1	0	0
IGSF21	84966	broad.mit.edu	37	1	18691758	18691758	+	Silent	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr1:18691758C>T	uc001bau.2	+	5	965	c.582C>T	c.(580-582)ccC>ccT	p.P194P	IGSF21_uc001bav.2_Silent_p.P15P	NM_032880	NP_116269	Q96ID5	IGS21_HUMAN	Homo sapiens immunoglobin superfamily, member 21 (IGSF21), mRNA.	194						extracellular region				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	40		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)		ACGCAGTGCCCCTATCAGAGC	0.547000														71			53		0	0	1	0	0
DGKI	9162	broad.mit.edu	37	7	137237241	137237241	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr7:137237241G>A	uc003vtt.3	-	19	2022	c.2021C>T	c.(2020-2022)tCc>tTc	p.S674F	DGKI_uc003vtu.3_Missense_Mutation_p.S374F	NM_004717	NP_004708	O75912	DGKI_HUMAN	Homo sapiens diacylglycerol kinase, iota (DGKI), mRNA.	674					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						CATGGGGATGGATTTGTAAGT	0.527000														116			69		0	0	1	0	0
GPR64	10149	broad.mit.edu	37	X	19031931	19031931	+	Silent	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chrX:19031931C>T	uc004cyx.3	-	15	1214	c.972G>A	c.(970-972)acG>acA	p.T324T	GPR64_uc004cze.3_Silent_p.T294T|GPR64_uc004cza.3_Silent_p.T302T|GPR64_uc004czf.3_Silent_p.T286T|GPR64_uc004cyy.3_Silent_p.T321T|GPR64_uc004czc.3_Silent_p.T308T|GPR64_uc004cyz.3_Silent_p.T310T|GPR64_uc004czb.3_Silent_p.T324T|GPR64_uc004czd.3_Silent_p.T300T|GPR64_uc004cyw.3_Silent_p.T308T|GPR64_uc010nfj.3_Silent_p.T294T	NM_001079858	NP_001073327	Q8IZP9	GPR64_HUMAN	Homo sapiens G protein-coupled receptor 64 (GPR64), transcript variant 1, mRNA.	324					neuropeptide signaling pathway|spermatogenesis	cytoplasm|integral to plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1)	42	Hepatocellular(33;0.183)					GGGAAGAGATCGTTTCAGACT	0.562000														8			152		0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	215844348	215844348	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr1:215844348G>A	uc001hku.1	-	63	14486	c.14099C>T	c.(14098-14100)tCc>tTc	p.S4700F		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	4700	Fibronectin type-III 32.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CAATAGTTCGGAATCTATAAA	0.368000										HNSCC(13;0.011)				70			55		0	0	1	0	0
OTOGL	283310	broad.mit.edu	37	12	80752049	80752049	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr12:80752049C>T	uc001szd.3	+	48	6020	c.6014C>T	c.(6013-6015)cCt>cTt	p.P2005L	OTOGL_uc021rba.1_Missense_Mutation_p.P24L|OTOGL_uc009zsg.2_5'UTR	NM_173591	NP_775862			Homo sapiens otogelin-like (OTOGL), mRNA.											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						TGCACCAAACCTGTTCCACTA	0.343000														2			13		0	0	1	0	0
MC5R	4161	broad.mit.edu	37	18	13826480	13826480	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr18:13826480C>T	uc010xaf.2	+	0	938	c.716C>T	c.(715-717)aCc>aTc	p.T239I		NM_005913	NP_005904	P33032	MC5R_HUMAN	Homo sapiens melanocortin 5 receptor (MC5R), mRNA.	239					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocortin receptor activity|protein binding	p.T239I(4)		NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						GGCGCGGTCACCGTCACCATG	0.617000														165			145		0	0	1	0	0
OSBPL6	114880	broad.mit.edu	37	2	179260239	179260239	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr2:179260239C>T	uc002uly.3	+	25	3377	c.2833C>T	c.(2833-2835)Cga>Tga	p.R945*	MIR548N_uc021vsx.1_Intron|OSBPL6_uc002ulx.3_Nonsense_Mutation_p.R920*|OSBPL6_uc010zfe.2_Nonsense_Mutation_p.R889*|OSBPL6_uc002ulz.3_Nonsense_Mutation_p.R884*|OSBPL6_uc002uma.3_Nonsense_Mutation_p.R924*	NM_001201480	NP_001188409	Q9BZF3	OSBL6_HUMAN	Homo sapiens oxysterol binding protein-like 6 (OSBPL6), transcript variant 3, mRNA.	920					lipid transport		lipid binding	p.R920*(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			CTGGGAGCTTCGAAAGGACCC	0.393000														51			33		0	0	1	0	0
BDP1	55814	broad.mit.edu	37	5	70856009	70856009	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr5:70856009C>T	uc003kbp.1	+	36	7704	c.7441C>T	c.(7441-7443)Cct>Tct	p.P2481S	BDP1_uc003kbq.1_Non-coding_Transcript|BDP1_uc003kbr.1_Non-coding_Transcript	NM_018429	NP_060899	A6H8Y1	BDP1_HUMAN	Homo sapiens B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB (BDP1), mRNA.	2481					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding	p.P2481A(2)		NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		TGATGCTGCTCCTAAGTCTCA	0.403000														34			34		0	0	1	0	0
BZRAP1	9256	broad.mit.edu	37	17	56386309	56386309	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr17:56386309G>A	uc002ivx.4	-	21	5195	c.4324C>T	c.(4324-4326)Cga>Tga	p.R1442*	BZRAP1_uc002ivw.3_5'Flank|BZRAP1_uc010dcs.3_Nonsense_Mutation_p.R1382*|BZRAP1_uc010wnt.2_Nonsense_Mutation_p.R1442*	NM_004758	NP_004749	O95153	RIMB1_HUMAN	Homo sapiens benzodiazapine receptor (peripheral) associated protein 1 (BZRAP1), transcript variant 1, mRNA.	1442						mitochondrion	benzodiazepine receptor binding	p.G1441*(1)		cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GGGCCCAGTCGTCCAGAGGCC	0.692000														78			69		0	0	1	0	0
COL5A1	1289	broad.mit.edu	37	9	137666738	137666739	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr9:137666738_137666739CC>TT	uc004cfe.3	+	26	2747_2748	c.2365_2366CC>TT	c.(2365-2367)cca>TTa	p.P789L		NM_000093	NP_000084	P20908	CO5A1_HUMAN	Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA.	789	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		GATTGGCTACCCAGGTCCTCGA	0.594000														0			10		0	0	1	0	0
IL31RA	133396	broad.mit.edu	37	5	55192199	55192199	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr5:55192199G>A	uc003jql.3	+	6	986	c.794G>A	c.(793-795)tGg>tAg	p.W265*	IL31RA_uc003jqk.3_Nonsense_Mutation_p.W265*|IL31RA_uc011cqj.2_Nonsense_Mutation_p.W123*|IL31RA_uc003jqm.3_Nonsense_Mutation_p.W246*|IL31RA_uc003jqn.3_Nonsense_Mutation_p.W265*|IL31RA_uc010iwa.1_Nonsense_Mutation_p.W233*|IL31RA_uc021xyq.1_Nonsense_Mutation_p.W246*|IL31RA_uc003jqo.3_Nonsense_Mutation_p.W123*	NM_139017	NP_001229568	Q8NI17	IL31R_HUMAN	Homo sapiens interleukin 31 receptor A (IL31RA), transcript variant 1, mRNA.	233	Fibronectin type-III 3.				JAK-STAT cascade|MAPKKK cascade|anti-apoptosis|defense response|homeostatic process|macrophage differentiation|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|plasma membrane	cytokine receptor activity|protein kinase binding|transcription coactivator activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)	21		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)				CTGGAACTGTGGAGAGTCCTG	0.512000														65			63		0	0	1	0	0
CCDC33	80125	broad.mit.edu	37	15	74560799	74560799	+	Splice_Site	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr15:74560799G>A	uc002axo.3	+	5	940	c.546_splice	c.e5+1	p.E182_splice	CCDC33_uc002axp.3_Splice_Site_p.E4_splice	NM_025055	NP_079331	Q8N5R6	CCD33_HUMAN	Homo sapiens coiled-coil domain containing 33 (CCDC33), transcript variant 1, mRNA.	385							protein binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						TGGCTCTGGAGGTACCAGGGC	0.627000														24			33		0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152284339	152284339	+	Missense_Mutation	SNP	G	A	A	rs142264996		TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr1:152284339G>A	uc001ezu.1	-	2	3059	c.3023C>T	c.(3022-3024)cCt>cTt	p.P1008L	AK056431_uc001ezv.3_5'Flank	NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	1008	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTCTGCGTGAGGAGTTCCTGA	0.582000									Ichthyosis					622			286		0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77617473	77617473	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr8:77617473G>A	uc003yau.2	+	1	1537	c.1150G>A	c.(1150-1152)Gga>Aga	p.G384R	ZFHX4_uc003yat.1_Missense_Mutation_p.G384R|ZFHX4_uc003yaw.1_Missense_Mutation_p.G384R	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	384						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CTTCTTAAAAGGAAGCGCGAG	0.517000										HNSCC(33;0.089)				42			38		0	0	1	0	0
C11orf46	120534	broad.mit.edu	37	11	30354525	30354526	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr11:30354525_30354526CC>TT	uc001mso.1	+	2	703_704	c.539_540CC>TT	c.(538-540)acc>aTT	p.T180I		NM_152316	NP_689529	Q8N8R7	CK046_HUMAN	Homo sapiens chromosome 11 open reading frame 46 (C11orf46), mRNA.	180			T -> P (in dbSNP:rs7940297).							cervix(1)|endometrium(1)|kidney(2)|lung(7)	11						AAAAATGCAACCGCTGGTTCAG	0.371000														27			22		0	0	1	0	0
RORC	6097	broad.mit.edu	37	1	151786020	151786020	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr1:151786020C>T	uc001ezh.3	-	6	1118	c.1010G>A	c.(1009-1011)aGg>aAg	p.R337K	RORC_uc001ezg.3_Missense_Mutation_p.R316K|RORC_uc010pdo.2_Missense_Mutation_p.R391K|RORC_uc010pdp.2_Missense_Mutation_p.R337K	NM_005060	NP_005051	P51449	RORG_HUMAN	Homo sapiens RAR-related orphan receptor C (RORC), transcript variant 1, mRNA.	337	Ligand-binding.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			GCCTGAGAGCCTCTTGGCGAA	0.612000														106			45		0	0	1	0	0
PPAP2B	8613	broad.mit.edu	37	1	56977694	56977694	+	Missense_Mutation	SNP	T	C	C			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr1:56977694T>C	uc001cyj.2	-	4	1332	c.764A>G	c.(763-765)gAt>gGt	p.D255G		NM_003713	NP_003704	O14495	LPP3_HUMAN	Homo sapiens phosphatidic acid phosphatase type 2B (PPAP2B), mRNA.	255					canonical Wnt receptor signaling pathway involved in positive regulation of cell-cell adhesion|canonical Wnt receptor signaling pathway involved in positive regulation of endothelial cell migration|canonical Wnt receptor signaling pathway involved in positive regulation of wound healing|germ cell migration|homotypic cell-cell adhesion|negative regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|sphingolipid metabolic process	Golgi apparatus|adherens junction|integral to membrane	phosphatidate phosphatase activity|phosphoprotein phosphatase activity|protein binding|sphingosine-1-phosphate phosphatase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						TGCCAGAACATCACTGGGATG	0.557000														93			78		0	0	1	0	0
NCR2	9436	broad.mit.edu	37	6	41318537	41318537	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr6:41318537G>A	uc003oqh.2	+	4	853	c.766G>A	c.(766-768)Gaa>Aaa	p.E256K	NCR2_uc003oqj.2_3'UTR|NCR2_uc003oqi.2_3'UTR	NM_004828	NP_004819	O95944	NCTR2_HUMAN	Homo sapiens natural cytotoxicity triggering receptor 2 (NCR2), transcript variant 1, mRNA.	256					cellular defense response	integral to plasma membrane	transmembrane receptor activity	p.R255K(1)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	14	Ovarian(28;0.0327)|Colorectal(47;0.196)					tgtagagagagaaatattata	0.423000														30			40		0	0	1	0	0
FSHR	2492	broad.mit.edu	37	2	49190277	49190277	+	Silent	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr2:49190277G>A	uc002rww.3	-	9	1793	c.1683C>T	c.(1681-1683)atC>atT	p.I561I	FSHR_uc010fbn.3_Silent_p.I535I|FSHR_uc002rwx.3_Silent_p.I499I	NM_000145	NP_000136	P23945	FSHR_HUMAN	Homo sapiens follicle stimulating hormone receptor (FSHR), transcript variant 1, mRNA.	561					female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding	p.I561I(2)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	AGGAGGACACGATGTTGGGGT	0.517000									Gonadal Dysgenesis, 46 XX					38			46		0	0	1	0	0
DNAJB7	150353	broad.mit.edu	37	22	41257776	41257776	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr22:41257776C>T	uc003azj.3	-	0	355	c.223G>A	c.(223-225)Gga>Aga	p.G75R	XPNPEP3_uc011aox.2_Intron|XPNPEP3_uc003azh.3_Intron|XPNPEP3_uc003azi.3_Intron|XPNPEP3_uc011aoy.1_5'Flank|XPNPEP3_uc003azf.2_3'UTR|XPNPEP3_uc003azg.2_Non-coding_Transcript|XPNPEP3_uc010gyh.1_5'Flank	NM_145174	NP_660157	Q7Z6W7	DNJB7_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 7 (DNAJB7), mRNA.	75					protein folding		heat shock protein binding|unfolded protein binding			breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	10						CTTCCACCTCCGTTTAATCCT	0.363000														8			51		0	0	1	0	0
ADD3	120	broad.mit.edu	37	10	111881905	111881905	+	Missense_Mutation	SNP	T	C	C			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr10:111881905T>C	uc001kyu.3	+	8	1154	c.998T>C	c.(997-999)cTc>cCc	p.L333P	ADD3_uc001kyt.4_Missense_Mutation_p.L333P|ADD3_uc001kys.4_Missense_Mutation_p.L333P|ADD3_uc001kyv.3_Missense_Mutation_p.L333P|ADD3_uc001kyw.3_Missense_Mutation_p.L333P|ADD3_uc001kyx.3_5'Flank	NM_016824	NP_058432	Q9UEY8	ADDG_HUMAN	Homo sapiens adducin 3 (gamma) (ADD3), transcript variant 1, mRNA.	333						cytoskeleton	actin binding|calmodulin binding|metal ion binding|structural constituent of cytoskeleton			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	29		Breast(234;0.052)|Lung NSC(174;0.223)		Epithelial(162;4.15e-05)|all cancers(201;0.000587)|BRCA - Breast invasive adenocarcinoma(275;0.0742)		GTAGACAATCTCCATGTACTG	0.413000														48			44		0	0	1	0	0
CD101	9398	broad.mit.edu	37	1	117564249	117564249	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr1:117564249C>T	uc010oxb.1	+	6	2130	c.2072C>T	c.(2071-2073)tCc>tTc	p.S691F	CD101_uc009whd.3_Missense_Mutation_p.S691F|CD101_uc010oxc.1_Missense_Mutation_p.S691F|CD101_uc010oxd.1_Missense_Mutation_p.S629F	NM_004258	NP_004249	Q93033	IGSF2_HUMAN	Homo sapiens CD101 molecule (CD101), transcript variant 1, mRNA.	691	Ig-like C2-type 6.				cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						TCCATCAACTCCAACACTGAT	0.373000														11			14		0	0	1	0	0
TP53BP2	7159	broad.mit.edu	37	1	223984185	223984185	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr1:223984185G>A	uc001hod.3	-	13	2480	c.1669C>T	c.(1669-1671)Cct>Tct	p.P557S	TP53BP2_uc010pvb.2_Missense_Mutation_p.P686S|TP53BP2_uc010puz.2_5'UTR|TP53BP2_uc010pva.2_Missense_Mutation_p.P325S	NM_005426	NP_005417	Q13625	ASPP2_HUMAN	Homo sapiens tumor protein p53 binding protein, 2 (TP53BP2), transcript variant 2, mRNA.	680					apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction	nucleus|perinuclear region of cytoplasm	NF-kappaB binding|SH3 domain binding|SH3/SH2 adaptor activity|protein binding			NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(131;0.0958)		GAAGAAACAGGCTCTGTTTCA	0.463000														105			86		0	0	1	0	0
NAALADL2	254827	broad.mit.edu	37	3	175520927	175520927	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr3:175520927C>T	uc003fit.3	+	13	2411	c.2324C>T	c.(2323-2325)tCa>tTa	p.S775L		NM_207015	NP_996898	Q58DX5	NADL2_HUMAN	Homo sapiens N-acetylated alpha-linked acidic dipeptidase-like 2 (NAALADL2), mRNA.	775					proteolysis	integral to membrane	peptidase activity			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		AGCATTAATTCAGCTCAGGTT	0.403000														23			15		0	0	1	0	0
KIAA0753	9851	broad.mit.edu	37	17	6493211	6493211	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr17:6493211G>A	uc002gde.4	-	17	3033	c.2674C>T	c.(2674-2676)Cca>Tca	p.P892S	KIAA0753_uc010vtd.2_Missense_Mutation_p.P348S|KIAA0753_uc010clo.3_Missense_Mutation_p.P593S|KIAA0753_uc010vte.2_Missense_Mutation_p.P593S	NM_014804	NP_055619	Q2KHM9	K0753_HUMAN	Homo sapiens KIAA0753 (KIAA0753), mRNA.	892						centrosome				endometrium(4)|large_intestine(11)|lung(5)|prostate(4)	24				COAD - Colon adenocarcinoma(228;0.157)		ATACCCGGTGGGACAAAGAGG	0.527000														48			45		0	0	1	0	0
OR10J3	441911	broad.mit.edu	37	1	159284199	159284199	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr1:159284199G>A	uc010piu.2	-	0	251	c.251C>T	c.(250-252)tCt>tTt	p.S84F		NM_001004467	NP_001004467	Q5JRS4	O10J3_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily J, member 3 (OR10J3), mRNA.	84					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					CAAGAGACCAGAAAGCATATG	0.507000														174			89		0	0	1	0	0
SIN3A	25942	broad.mit.edu	37	15	75693113	75693113	+	Silent	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr15:75693113G>A	uc002bai.3	-	10	1954	c.1695C>T	c.(1693-1695)taC>taT	p.Y565Y	SIN3A_uc002baj.3_Silent_p.Y565Y|SIN3A_uc010uml.2_Silent_p.Y565Y	NM_015477	NP_056292	Q96ST3	SIN3A_HUMAN	Homo sapiens SIN3 transcription regulator homolog A (yeast) (SIN3A), transcript variant 2, mRNA.	565	Interaction with NCOR1 (By similarity).|Interactions with SUDS3 and SAP130.				blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	Sin3 complex|nucleolus	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						TGGGCTGCTGGTAACTCTTTG	0.502000														18			12		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9077822	9077822	+	Silent	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr19:9077822G>A	uc002mkp.3	-	2	9828	c.9624C>T	c.(9622-9624)atC>atT	p.I3208I		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	3209	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGGAGCTCATGATTTTGAGAG	0.463000														101			75		0	0	1	0	0
NSMAF	8439	broad.mit.edu	37	8	59512394	59512394	+	Missense_Mutation	SNP	A	C	C			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr8:59512394A>C	uc011lee.2	-	17	1522	c.1461T>G	c.(1459-1461)ttT>ttG	p.F487L	NSMAF_uc003xtt.3_Missense_Mutation_p.F456L	NM_001144772	NP_001138244	Q92636	FAN_HUMAN	Homo sapiens neutral sphingomyelinase (N-SMase) activation associated factor (NSMAF), transcript variant 2, mRNA.	456	BEACH.				ceramide metabolic process	cytoplasm|soluble fraction	protein binding|receptor signaling protein activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	38		all_lung(136;0.174)|Lung NSC(129;0.2)				TATTGACTAGAAAGCTCACAT	0.433000														45			51		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140183076	140183076	+	Missense_Mutation	SNP	C	T	T	rs140331962		TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr5:140183076C>T	uc003lhf.2	+	0	2294	c.2294C>T	c.(2293-2295)cCc>cTc	p.P765L	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc011czy.2_Intron|PCDHAC2_uc011czz.2_Missense_Mutation_p.P765L	NM_018906	NP_061729	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 3 (PCDHA3), transcript variant 1, mRNA.	752					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)			GAGGGGTTGCCCAAGACCGAC	0.597000														11			81		0	0	1	0	0
SLCO4C1	353189	broad.mit.edu	37	5	101576476	101576476	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr5:101576476G>A	uc003knm.3	-	10	2109	c.1822C>T	c.(1822-1824)Cac>Tac	p.H608Y		NM_180991	NP_851322	Q6ZQN7	SO4C1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 4C1 (SLCO4C1), mRNA.	608					cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		CGTTGTCTGTGATTAACACAC	0.338000														61			40		0	0	1	0	0
KRT32	3882	broad.mit.edu	37	17	39622142	39622142	+	Silent	SNP	G	C	C	rs144482548	byFrequency	TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr17:39622142G>C	uc002hwr.3	-	2	652	c.591C>G	c.(589-591)gcC>gcG	p.A197A		NM_002278	NP_002269	Q14532	K1H2_HUMAN	Homo sapiens keratin 32 (KRT32), mRNA.	197	Coil 1B.|Rod.				epidermis development	intermediate filament	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(137;0.000812)				CATTGATGTCGGCCTCCACCA	0.592000														68			70		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179585312	179585312	+	Missense_Mutation	SNP	G	A	A	rs17452588	by1000genomes	TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr2:179585312G>A	uc021vsy.1	-	76	19670	c.19445C>T	c.(19444-19446)tCg>tTg	p.S6482L	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.S3143L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	7409	Ig-like 46.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGGAGTTCCCGAAATTTCACA	0.383000														30			16		0	0	1	0	0
C6orf118	168090	broad.mit.edu	37	6	165715266	165715266	+	Missense_Mutation	SNP	A	G	G			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr6:165715266A>G	uc003qum.4	-	1	581	c.545T>C	c.(544-546)tTg>tCg	p.L182S	C6orf118_uc011egi.1_Non-coding_Transcript	NM_144980	NP_659417	Q5T5N4	CF118_HUMAN	Homo sapiens chromosome 6 open reading frame 118 (C6orf118), mRNA.	182										breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		CAGCACCTTCAAGTCGGGCAG	0.647000														56			77		0	0	1	0	0
KLC4	89953	broad.mit.edu	37	6	43041674	43041674	+	Silent	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr6:43041674C>T	uc003otw.1	+	14	2153	c.1834C>T	c.(1834-1836)Ctg>Ttg	p.L612L	PTK7_uc003oub.1_5'Flank|PTK7_uc003ouc.1_5'Flank|PTK7_uc003oud.1_5'Flank|PTK7_uc003oue.1_5'Flank|PTK7_uc003ouf.1_5'Flank|PTK7_uc003oug.1_5'Flank|PTK7_uc011dve.1_5'Flank|KLC4_uc003otr.1_Non-coding_Transcript|KLC4_uc003otv.1_Silent_p.L594L|KLC4_uc011dvd.1_Silent_p.L517L|KLC4_uc003otx.1_Silent_p.L594L|KLC4_uc003oty.1_Silent_p.L594L|KLC4_uc003otz.1_Silent_p.L594L|PTK7_uc003oua.3_5'Flank	NM_201523	NP_958930	Q9NSK0	KLC4_HUMAN	Homo sapiens kinesin light chain 4 (KLC4), transcript variant 3, mRNA.	594						cytoplasm|kinesin complex|microtubule	microtubule motor activity|protein binding			endometrium(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(4)	23			all cancers(41;0.00169)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0376)|KIRC - Kidney renal clear cell carcinoma(2;0.0453)			CTTGAACTATCTGAACCAACC	0.537000														60			39		0	0	1	0	0
KCNK9	51305	broad.mit.edu	37	8	140631299	140631299	+	Silent	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr8:140631299G>A	uc003yvf.1	-	1	391	c.327C>T	c.(325-327)ttC>ttT	p.F109F	KCNK9_uc003yvg.1_Silent_p.F109F|KCNK9_uc003yve.1_Non-coding_Transcript	NM_016601	NP_057685	Q9NPC2	KCNK9_HUMAN	Homo sapiens potassium channel, subfamily K, member 9 (KCNK9), mRNA.	109						integral to membrane|membrane fraction	potassium channel activity|voltage-gated ion channel activity			NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)	43	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	BRCA - Breast invasive adenocarcinoma(115;0.0855)			AGAACATGCAGAAGGCCTTGC	0.602000														29			28		0	0	1	0	0
C3orf38	285237	broad.mit.edu	37	3	88205634	88205634	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr3:88205634C>T	uc003dqw.3	+	2	1149	c.839C>T	c.(838-840)tCc>tTc	p.S280F		NM_173824	NP_776185	Q5JPI3	CC038_HUMAN	Homo sapiens chromosome 3 open reading frame 38 (C3orf38), mRNA.	280					apoptosis			p.L279L(1)		breast(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	12		Lung NSC(201;0.17)		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)		GGAGAGAGTTCCCTTGCTCCT	0.368000														39			39		0	0	1	0	0
TACC2	10579	broad.mit.edu	37	10	123843107	123843107	+	Silent	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr10:123843107G>A	uc001lfv.3	+	3	1452	c.1092G>A	c.(1090-1092)aaG>aaA	p.K364K	TACC2_uc001lfw.3_Intron|TACC2_uc009xzx.3_Silent_p.K364K|TACC2_uc010qtv.2_Silent_p.K364K	NM_206862	NP_996744	O95359	TACC2_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA.	364						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				GCTCTGGGAAGGAGGCTCTGG	0.637000														69			57		0	0	1	0	0
MYLK	4638	broad.mit.edu	37	3	123452564	123452564	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr3:123452564C>T	uc003ego.3	-	9	1561	c.1279G>A	c.(1279-1281)Gaa>Aaa	p.E427K	MYLK_uc011bjw.2_Missense_Mutation_p.E427K|MYLK_uc003egp.3_Missense_Mutation_p.E427K|MYLK_uc003egq.3_Missense_Mutation_p.E427K|MYLK_uc003egr.3_Missense_Mutation_p.E427K|MYLK_uc003egs.3_Missense_Mutation_p.E251K	NM_053025	NP_444253	Q15746	MYLK_HUMAN	Homo sapiens myosin light chain kinase (MYLK), transcript variant 1, mRNA.	427	Ig-like C2-type 3.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	ATP binding|actin binding|calmodulin binding|metal ion binding|myosin light chain kinase activity	p.K426N(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		GTTTGATTTTCCTTGACCTCC	0.507000														86			74		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106805665	106805665	+	Splice_Site	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr14:106805665G>A	uc021ser.1	-	583		c.16288_splice	c.e583-1		abParts_uc001ysw.1_5'Flank					Parts of antibodies, mostly variable regions.																		AGGAGGTCCAGGACTCTCAGA	0.498000														45			33		0	0	1	0	0
TRPM2	7226	broad.mit.edu	37	21	45833926	45833926	+	Silent	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr21:45833926C>T	uc010gpt.1	+	19	3215	c.3115C>T	c.(3115-3117)Ctg>Ttg	p.L1039L	TRPM2_uc002zet.1_Silent_p.L1039L|TRPM2_uc002zeu.1_Silent_p.L1039L|TRPM2_uc021wjr.1_Non-coding_Transcript|TRPM2_uc002zew.1_Silent_p.L1039L|TRPM2_uc002zex.1_Silent_p.L825L|TRPM2_uc002zey.1_Silent_p.L552L	NM_003307	NP_003298	O94759	TRPM2_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 2 (TRPM2), transcript variant 1, mRNA.	1039						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						CACCAACATCCTGCTGCTCAA	0.662000														311			244		0	0	1	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43777646	43777646	+	Silent	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr12:43777646G>A	uc010skx.2	-	29	4587	c.4587C>T	c.(4585-4587)gaC>gaT	p.D1529D		NM_025003	NP_079279	P59510	ATS20_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 20 (ADAMTS20), mRNA.	1529	TSP type-1 12.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		GCTGCACACAGTCCTGACTCC	0.453000														73			53		0	0	1	0	0
IL22RA1	58985	broad.mit.edu	37	1	24460811	24460811	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr1:24460811G>A	uc001biq.2	-	3	624	c.421C>T	c.(421-423)Cct>Tct	p.P141S	IL22RA1_uc010oeg.1_Missense_Mutation_p.P33S|IL22RA1_uc009vrb.2_Missense_Mutation_p.P5S|IL22RA1_uc010oeh.2_Missense_Mutation_p.P141S	NM_021258	NP_067081	Q8N6P7	I22R1_HUMAN	Homo sapiens interleukin 22 receptor, alpha 1 (IL22RA1), mRNA.	141	Fibronectin type-III 2.					integral to membrane	interferon receptor activity			breast(2)|endometrium(2)|large_intestine(4)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000992)|all_lung(284;0.00138)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-24)|Colorectal(126;6.43e-08)|COAD - Colon adenocarcinoma(152;3.51e-06)|GBM - Glioblastoma multiforme(114;5.06e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00911)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.148)		GTGGGGGTAGGATGAACAATC	0.512000														45			40		0	0	1	0	0
SYT10	341359	broad.mit.edu	37	12	33559853	33559853	+	Silent	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr12:33559853G>A	uc001rll.1	-	2	1245	c.948C>T	c.(946-948)ttC>ttT	p.F316F	SYT10_uc009zju.1_Silent_p.F126F	NM_198992	NP_945343	Q6XYQ8	SYT10_HUMAN	Homo sapiens synaptotagmin X (SYT10), mRNA.	316	C2 1.					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					CATACACACTGAAATGTAGTT	0.378000														28			25		0	0	1	0	0
INPP4A	3631	broad.mit.edu	37	2	99154342	99154342	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr2:99154342C>T	uc002syy.3	+	7	877	c.484C>T	c.(484-486)Cgt>Tgt	p.R162C	INPP4A_uc010yvj.1_Missense_Mutation_p.R162C|INPP4A_uc010yvk.2_Missense_Mutation_p.R162C|INPP4A_uc002syx.3_Missense_Mutation_p.R162C|INPP4A_uc010fik.3_Intron	NM_001134224	NP_001127696	Q96PE3	INP4A_HUMAN	Homo sapiens inositol polyphosphate-4-phosphatase, type I, 107kDa (INPP4A), transcript variant d, mRNA.	162					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity	p.R162C(4)		breast(1)|endometrium(9)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(4)|upper_aerodigestive_tract(4)	43						AGAGAGTGACCGTGTAGGTAA	0.532000														18			13		0	0	1	0	0
SETD4	54093	broad.mit.edu	37	21	37418233	37418233	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr21:37418233G>A	uc002yuw.2	-	4	1746	c.373C>T	c.(373-375)Ctt>Ttt	p.L125F	SETD4_uc021wiy.1_Missense_Mutation_p.L125F|SETD4_uc002yuu.3_Non-coding_Transcript|SETD4_uc002yux.2_Missense_Mutation_p.L101F|SETD4_uc002yuz.3_Missense_Mutation_p.L101F|SETD4_uc002yuy.3_Missense_Mutation_p.L125F|SETD4_uc002yva.3_Missense_Mutation_p.L101F	NM_017438	NP_059134	Q9NVD3	SETD4_HUMAN	Homo sapiens SET domain containing 4 (SETD4), transcript variant 1, mRNA.	125	SET.							p.L125V(2)		autonomic_ganglia(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)	15						GGCTTCCAAAGAGATCGGTGC	0.463000														89			65		0	0	1	0	0
WASH3P	374666	broad.mit.edu	37	15	102515299	102515299	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr15:102515299G>A	uc002cdi.3	+	8	1943	c.523G>A	c.(523-525)Ggc>Agc	p.G175S	WASH3P_uc010bpo.3_Non-coding_Transcript|WASH3P_uc002cdq.3_Non-coding_Transcript|WASH3P_uc002cdr.3_Non-coding_Transcript					Homo sapiens WAS protein family homolog 3 pseudogene (WASH3P), non-coding RNA.									p.G374S(10)		central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						TGGGGGCATCGGCAAGGCCAA	0.652000														30			3		0	0	1	0	0
TMEM156	80008	broad.mit.edu	37	4	38995412	38995412	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr4:38995412C>T	uc003gto.3	-	2	673	c.565G>A	c.(565-567)Gaa>Aaa	p.E189K	TMEM156_uc010ifj.3_Missense_Mutation_p.E189K	NM_024943	NP_079219	Q8N614	TM156_HUMAN	Homo sapiens transmembrane protein 156 (TMEM156), mRNA.	189						integral to membrane				endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|stomach(1)	10						TTCGGGTATTCCATGATTCTA	0.358000														62			41		0	0	1	0	0
GRIN2A	2903	broad.mit.edu	37	16	10032081	10032081	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr16:10032081G>A	uc010uym.2	-	3	1052	c.742C>T	c.(742-744)Ctc>Ttc	p.L248F	GRIN2A_uc002czo.4_Missense_Mutation_p.L248F|GRIN2A_uc010uyn.2_Missense_Mutation_p.L91F|GRIN2A_uc002czr.4_Missense_Mutation_p.L248F	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	248					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TACCCGGTGAGGCCAAGGGAG	0.512000														73			47		0	0	1	0	0
LILRP2	79166	broad.mit.edu	37	19	55220849	55220849	+	RNA	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr19:55220849C>T	uc002qgs.1	+	0		c.1249C>T			LILRP2_uc002qgt.1_Non-coding_Transcript					Homo sapiens leukocyte immunoglobulin-like receptor pseudogene 2 (LILRP2), non-coding RNA.																		TCTCTCAGCCCTGCCGAGCCC	0.527000														32			20		0	0	1	0	0
TARBP1	6894	broad.mit.edu	37	1	234564992	234564992	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr1:234564992G>A	uc001hwd.3	-	16	2950	c.2950C>T	c.(2950-2952)Cag>Tag	p.Q984*		NM_005646	NP_005637	Q13395	TARB1_HUMAN	Homo sapiens TAR (HIV-1) RNA binding protein 1 (TARBP1), mRNA.	984					RNA processing|regulation of transcription from RNA polymerase II promoter	nucleus	RNA binding|RNA methyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			AATATCAGCTGAGTGTTGCTT	0.358000														43			30		0	0	1	0	0
RALGAPA2	57186	broad.mit.edu	37	20	20585861	20585861	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr20:20585861C>T	uc002wrz.3	-	14	2139	c.1996G>A	c.(1996-1998)Gat>Aat	p.D666N	RALGAPA2_uc002wry.3_Missense_Mutation_p.D281N|RALGAPA2_uc010zsg.2_Missense_Mutation_p.D67N	NM_020343	NP_065076	Q2PPJ7	RGPA2_HUMAN	Homo sapiens Ral GTPase activating protein, alpha subunit 2 (catalytic) (RALGAPA2), mRNA.	666					activation of Ral GTPase activity	cytosol|nucleus	Ral GTPase activator activity|protein heterodimerization activity			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						CTTAATTTATCCAGAGGTAGG	0.438000														18			15		0	0	1	0	0
GHSR	2693	broad.mit.edu	37	3	172165900	172165900	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr3:172165900G>A	uc003fib.2	-	0	347	c.304C>T	c.(304-306)Cgc>Tgc	p.R102C	GHSR_uc011bpv.2_Missense_Mutation_p.R102C	NM_198407	NP_940799	Q92847	GHSR_HUMAN	Homo sapiens growth hormone secretagogue receptor (GHSR), transcript variant 1a, mRNA.	102					actin polymerization or depolymerization|adult feeding behavior|decidualization|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of multicellular organism growth	cell surface|integral to membrane|membrane raft|neuron projection|plasma membrane	growth hormone secretagogue receptor activity|growth hormone-releasing hormone receptor activity			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	33	Ovarian(172;0.00143)|Breast(254;0.197)		Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			TGCCAGAGGCGAACGAGGTCC	0.612000														62			48		0	0	1	0	0
C14orf180	400258	broad.mit.edu	37	14	105054644	105054644	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr14:105054644G>A	uc001yow.1	+	3	576	c.275G>A	c.(274-276)aGg>aAg	p.R92K	C14orf180_uc010tyh.1_Missense_Mutation_p.R92K|C14orf180_uc010awy.1_Missense_Mutation_p.R92K	NM_001008404	NP_001008404	Q8N912	CN180_HUMAN	Homo sapiens chromosome 14 open reading frame 180 (C14orf180), mRNA.	92						integral to membrane							Melanoma(154;0.226)	all cancers(16;0.00405)|OV - Ovarian serous cystadenocarcinoma(23;0.0319)|Epithelial(46;0.0784)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.127)		GCCACTGTCAGGGGTGAGTTC	0.662000														133			105		0	0	1	0	0
LMF1	64788	broad.mit.edu	37	16	920808	920808	+	Missense_Mutation	SNP	T	G	G			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr16:920808T>G	uc021tae.1	-	7	1157	c.1153A>C	c.(1153-1155)Aac>Cac	p.N385H	LMF1_uc010brg.2_5'Flank|LMF1_uc010uuu.2_Missense_Mutation_p.N168H|LMF1_uc021tad.1_Missense_Mutation_p.N216H|LMF1_uc010bri.2_Missense_Mutation_p.N148H|LMF1_uc002ckk.2_Missense_Mutation_p.N168H	NM_022773	NP_073610	Q96S06	LMF1_HUMAN	Homo sapiens lipase maturation factor 1 (LMF1), transcript variant 1, mRNA.	385						endoplasmic reticulum membrane|integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	18		Hepatocellular(780;0.00308)				CTCAGCAAGTTGAGGACCACG	0.627000														51			40		0	0	1	0	0
THPO	7066	broad.mit.edu	37	3	184091349	184091349	+	Missense_Mutation	SNP	T	G	G			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr3:184091349T>G	uc003fol.1	-	4	465	c.250A>C	c.(250-252)Att>Ctt	p.I84L	THPO_uc003fom.2_Missense_Mutation_p.I84L|THPO_uc021xii.1_Missense_Mutation_p.I84L|THPO_uc003fon.3_Missense_Mutation_p.I84L|THPO_uc011bro.2_Missense_Mutation_p.I84L|THPO_uc003fop.3_Missense_Mutation_p.I84L|THPO_uc011brp.2_Missense_Mutation_p.I84L|THPO_uc011brq.2_Missense_Mutation_p.I84L|THPO_uc003for.1_Non-coding_Transcript|THPO_uc003fos.1_Non-coding_Transcript|THPO_uc003fot.1_Missense_Mutation_p.I84L|THPO_uc003fou.1_Missense_Mutation_p.I84L	NM_000460	NP_000451	P40225	TPO_HUMAN	Homo sapiens thrombopoietin (THPO), transcript variant 1, mRNA.	84					cell proliferation|platelet activation	extracellular space	cytokine activity|growth factor activity|hormone activity			NS(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GCTCCCAGAATGTCCTGTGCC	0.582000														32			25		0	0	1	0	0
ST7	7982	broad.mit.edu	37	7	116739827	116739827	+	Silent	SNP	T	C	C			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr7:116739827T>C	uc003vin.3	+	1	377	c.163T>C	c.(163-165)Ttg>Ctg	p.L55L	ST7_uc011knl.2_Silent_p.L55L|ST7_uc003vio.3_Silent_p.L55L|ST7_uc003viq.3_Silent_p.L9L|ST7_uc011knm.2_Silent_p.L12L|ST7_uc003vir.3_Silent_p.L3L|ST7-AS2_uc003viu.3_Intron	NM_021908	NP_068708	Q9NRC1	ST7_HUMAN	Homo sapiens suppression of tumorigenicity 7 (ST7), transcript variant b, mRNA.	55						integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(1)	21	all_cancers(3;3.88e-07)|all_epithelial(6;3.42e-07)|Lung NSC(10;0.00072)|all_lung(10;0.000847)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		GAGCATGTTTTTGAACACATT	0.388000														11			9		0	0	1	0	0
PCDHB1	29930	broad.mit.edu	37	5	140431133	140431133	+	Silent	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr5:140431133G>A	uc003lik.1	+	0	155	c.78G>A	c.(76-78)ggG>ggA	p.G26G		NM_013340	NP_037472	Q9Y5F3	PCDB1_HUMAN	Homo sapiens protocadherin beta 1 (PCDHB1), mRNA.	26					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TATCTGTGGGGGATGCGACAA	0.522000														4			39		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179587638	179587638	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr2:179587638C>T	uc021vsy.1	-	72	18481	c.18256G>A	c.(18256-18258)Gaa>Aaa	p.E6086K	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.E2747K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	7013	Ig-like 42.						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)			TCCAGAGGTTCCAGTTCCGTA	0.403000														16			14		0	0	1	0	0
AAAS	8086	broad.mit.edu	37	12	53715228	53715228	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr12:53715228G>A	uc001scr.4	-	0	185	c.22C>T	c.(22-24)Cct>Tct	p.P8S	AAAS_uc001scs.4_Missense_Mutation_p.P8S	NM_015665	NP_056480	Q9NRG9	AAAS_HUMAN	Homo sapiens achalasia, adrenocortical insufficiency, alacrimia (AAAS), transcript variant 1, mRNA.	8					carbohydrate metabolic process|glucose transport|nucleocytoplasmic transport|regulation of glucose transport|regulation of nucleocytoplasmic transport|transmembrane transport|viral reproduction	nuclear pore				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	20						GGTGGAGGAGGGAACAACCCC	0.632000											OREG0021865	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		179			153		0	0	1	0	0
ALOX15	246	broad.mit.edu	37	17	4536493	4536493	+	Missense_Mutation	SNP	T	C	C			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr17:4536493T>C	uc002fyh.3	-	9	1391	c.1366A>G	c.(1366-1368)Aag>Gag	p.K456E	ALOX15_uc010vsd.2_Missense_Mutation_p.K417E|ALOX15_uc010vse.2_Missense_Mutation_p.K478E	NM_001140	NP_001131	P16050	LOX15_HUMAN	Homo sapiens arachidonate 15-lipoxygenase (ALOX15), mRNA.	456	Lipoxygenase.				inflammatory response|leukotriene biosynthetic process	nucleus	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(5)	20				READ - Rectum adenocarcinoma(115;0.0327)	Ciclopirox(DB01188)|Masoprocol(DB00179)|Zileuton(DB00744)	AAGGAAGACTTCACTCCCAGG	0.612000														37			59		0	0	1	0	0
GPRC6A	222545	broad.mit.edu	37	6	117127855	117127855	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr6:117127855G>A	uc003pxj.1	-	2	1035	c.1013C>T	c.(1012-1014)tCc>tTc	p.S338F	GPRC6A_uc003pxk.1_Intron|GPRC6A_uc003pxl.1_Missense_Mutation_p.S338F	NM_148963	NP_683766	Q5T6X5	GPC6A_HUMAN	Homo sapiens G protein-coupled receptor, family C, group 6, member A (GPRC6A), mRNA.	338					response to amino acid stimulus		G-protein coupled receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		TTGAAGAAAGGAATGGAAAGA	0.408000														56			50		0	0	1	0	0
ALB	213	broad.mit.edu	37	4	74281999	74281999	+	Silent	SNP	A	G	G			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr4:74281999A>G	uc003hgs.4	+	9	1291	c.1218A>G	c.(1216-1218)gaA>gaG	p.E406E	ALB_uc011cbe.2_Silent_p.E85E|ALB_uc003hgw.4_Silent_p.E214E|ALB_uc011cbf.2_Silent_p.E296E	NM_000477	NP_000468	P02768	ALBU_HUMAN	Homo sapiens albumin (ALB), mRNA.	406	Albumin 3.		E -> K (in Hiroshima-2).		bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	DNA binding|antioxidant activity|chaperone binding|copper ion binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)	CTCTTGTGGAAGAGCCTCAGA	0.343000														14			11		0	0	1	0	0
PDE6B	5158	broad.mit.edu	37	4	628567	628567	+	Silent	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr4:628567C>T	uc003gap.3	+	1	623	c.570C>T	c.(568-570)atC>atT	p.I190I	PDE6B_uc003gao.4_Silent_p.I190I	NM_000283	NP_001138764	P35913	PDE6B_HUMAN	Homo sapiens phosphodiesterase 6B, cGMP-specific, rod, beta (PDE6B), transcript variant 1, mRNA.	190	GAF 1.				GMP metabolic process|cytosolic calcium ion homeostasis|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30						TGGCGGTGATCATGGCAGTGA	0.572000														82			64		0	0	1	0	0
ADAM28	10863	broad.mit.edu	37	8	24170920	24170920	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr8:24170920G>A	uc003xdy.3	+	5	486	c.403G>A	c.(403-405)Gat>Aat	p.D135N	ADAM28_uc003xdx.3_Missense_Mutation_p.D135N|ADAM28_uc011kzz.2_Intron|ADAM28_uc011laa.2_Non-coding_Transcript	NM_014265	NP_055080	Q9UKQ2	ADA28_HUMAN	Homo sapiens ADAM metallopeptidase domain 28 (ADAM28), transcript variant 1, mRNA.	135					proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding	p.G134E(1)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		CAGTCAGGGGGATCAAAGATA	0.393000														35			30		0	0	1	0	0
OR10AG1	282770	broad.mit.edu	37	11	55735212	55735212	+	Missense_Mutation	SNP	A	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr11:55735212A>T	uc010rit.2	-	0	728	c.728T>A	c.(727-729)tTt>tAt	p.F243Y		NM_001005491	NP_001005491	Q8NH19	O10AG_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily AG, member 1 (OR10AG1), mRNA.	243					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40	Esophageal squamous(21;0.0137)					ACCTGCTCCAAAGAATAAGAT	0.393000														25			21		0	0	1	0	0
STAT5B	6777	broad.mit.edu	37	17	40379652	40379652	+	Silent	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr17:40379652G>A	uc002hzh.3	-	2	349	c.180C>T	c.(178-180)ctC>ctT	p.L60L	STAT5B_uc002hzi.3_Silent_p.L60L	NM_012448	NP_036580	P51692	STA5B_HUMAN	Homo sapiens signal transducer and activator of transcription 5B (STAT5B), mRNA.	60					2-oxoglutarate metabolic process|JAK-STAT cascade involved in growth hormone signaling pathway|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|oxaloacetate metabolic process|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cytosol|nucleoplasm	calcium ion binding|glucocorticoid receptor binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.135)	Dasatinib(DB01254)	GGCCCTCCAGGAGCTGGGTGG	0.502000														47			42		0	0	1	0	0
BC139719	0	broad.mit.edu	37	16	90161106	90161106	+	Silent	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr16:90161106G>A	uc002fqq.3	+	2	336	c.336G>A	c.(334-336)agG>agA	p.R112R	BC139719_uc002fqp.3_Intron					Homo sapiens, Similar to tubulin, beta, 2, clone IMAGE:4873024, mRNA.																		CAAAATCCAGGAACGCTCCAA	0.622000														23			10		0	0	1	0	0
MLL2	8085	broad.mit.edu	37	12	49445855	49445855	+	Silent	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr12:49445855G>A	uc001rta.4	-	9	1611	c.1611C>T	c.(1609-1611)tcC>tcT	p.S537S		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	537	15 X 5 AA repeats of S/P-P-P-E/P-E/A.|Pro-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						CAGGTGGTGGGGATAGAGGCG	0.582000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)				112			86		0	0	1	0	0
EPHA1	2041	broad.mit.edu	37	7	143098514	143098514	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr7:143098514C>T	uc003wcz.3	-	2	422	c.335G>A	c.(334-336)gGa>gAa	p.G112E		NM_005232	NP_005223	P21709	EPHA1_HUMAN	Homo sapiens EPH receptor A1 (EPHA1), mRNA.	112						integral to plasma membrane	ATP binding|ephrin receptor activity	p.G112V(3)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				AGGCCCGGCTCCCCCAGGGAA	0.617000														174			149		0	0	1	0	0
HYLS1	219844	broad.mit.edu	37	11	125769686	125769686	+	Silent	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr11:125769686G>A	uc009zbv.3	+	3	957	c.423G>A	c.(421-423)caG>caA	p.Q141Q	HYLS1_uc001qcx.4_Silent_p.Q141Q|PUS3_uc001qcy.2_Intron|HYLS1_uc021qrw.1_Silent_p.Q141Q	NM_145014	NP_659451	Q96M11	HYLS1_HUMAN	Homo sapiens hydrolethalus syndrome 1 (HYLS1), transcript variant 1, mRNA.	141						centrosome|nucleus				breast(1)|endometrium(1)|large_intestine(3)|skin(3)|upper_aerodigestive_tract(1)	9	all_hematologic(175;0.177)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.131)|all_lung(97;0.139)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0446)		TACAGTTCCAGGAAGACAAGG	0.373000														49			49		0	0	1	0	0
DCN	1634	broad.mit.edu	37	12	91546920	91546920	+	Silent	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr12:91546920G>A	uc001tbt.3	-	5	953	c.699C>T	c.(697-699)atC>atT	p.I233I	DCN_uc001tbo.3_Silent_p.I124I|DCN_uc001tbp.3_Silent_p.I86I|DCN_uc001tbq.3_Intron|DCN_uc001tbr.3_Intron|DCN_uc001tbu.3_Silent_p.I233I	NM_133503	NP_598010	P07585	PGS2_HUMAN	Homo sapiens decorin (DCN), transcript variant A2, mRNA.	233					organ morphogenesis	extracellular space				central_nervous_system(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|skin(1)	20						CAACTCTGCTGATTTTGTTGC	0.348000														5			84		0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54707203	54707203	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr15:54707203G>A	uc021smr.1	+	16	4865	c.4865G>A	c.(4864-4866)gGa>gAa	p.G1622E	UNC13C_uc021sms.1_Missense_Mutation_p.G1624E|UNC13C_uc002acl.3_Missense_Mutation_p.G454E	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	1624					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	p.N1622N(1)|p.G1624E(1)		breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		CTGAACATGGGAAAAATAAGT	0.299000														24			18		0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228881314	228881314	+	Missense_Mutation	SNP	C	T	T	rs2396519		TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr2:228881314C>T	uc002vpq.2	-	6	4303	c.4256G>A	c.(4255-4257)cGa>cAa	p.R1419Q	SPHKAP_uc002vpp.2_Missense_Mutation_p.R1419Q|SPHKAP_uc010zlx.1_Missense_Mutation_p.R1419Q	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	1419						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		GCAAAGTGATCGCCTTTTGTG	0.458000														7			67		0	0	1	0	0
LONP2	83752	broad.mit.edu	37	16	48296726	48296726	+	Missense_Mutation	SNP	C	G	G			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr16:48296726C>G	uc002efi.1	+	5	1014	c.925C>G	c.(925-927)Ctg>Gtg	p.L309V	MIR548AE2_uc021thr.1_Intron|LONP2_uc010vgm.1_Non-coding_Transcript|LONP2_uc002efj.1_Missense_Mutation_p.L265V	NM_031490	NP_113678	Q86WA8	LONP2_HUMAN	Homo sapiens lon peptidase 2, peroxisomal (LONP2), mRNA.	309					misfolded or incompletely synthesized protein catabolic process|protein targeting to peroxisome|signal peptide processing	nucleoid|peroxisomal matrix	ATP binding|ATP-dependent peptidase activity|enzyme binding|sequence-specific DNA binding|serine-type endopeptidase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						AGAATATGCTCTGACTAGAAA	0.348000														14			20		0	0	1	0	0
PRAMEF10	343071	broad.mit.edu	37	1	12952767	12952767	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr1:12952767C>T	uc001auo.3	-	3	1478	c.1405G>A	c.(1405-1407)Gac>Aac	p.D469N		NM_001039361	NP_001034450	O60809	PRA10_HUMAN	Homo sapiens PRAME family member 10 (PRAMEF10), mRNA.	469										NS(2)|breast(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	12	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;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		AGATGGAAGTCCACTTTCTCA	0.493000														41			34		0	0	1	0	0
CCDC170	80129	broad.mit.edu	37	6	151914356	151914356	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr6:151914356C>T	uc003qol.3	+	7	1497	c.1408C>T	c.(1408-1410)Cgt>Tgt	p.R470C		NM_025059	NP_079335	Q8IYT3	CF097_HUMAN	Homo sapiens chromosome 6 open reading frame 97 (C6orf97), mRNA.	470																	GCAGCTGGTTCGTCTTGAGAG	0.453000														43			32		0	0	1	0	0
BC035867	0	broad.mit.edu	37	22	20993343	20993343	+	RNA	SNP	A	G	G			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr22:20993343A>G	uc002zsv.3	-	1		c.216T>C								Homo sapiens, clone IMAGE:5171202, mRNA.																		ACTGCAGATCAAGCCCAGCTA	0.507000														1			6		0	0	1	0	0
EBF3	253738	broad.mit.edu	37	10	131676055	131676055	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr10:131676055G>A	uc021qav.1	-	6	672	c.571C>T	c.(571-573)Cct>Tct	p.P191S	EBF3_uc001lki.2_Missense_Mutation_p.P205S	NM_001005463	NP_001005463	Q9H4W6	COE3_HUMAN	Homo sapiens early B-cell factor 3 (EBF3), mRNA.	205					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		ATATCTCGAGGGTTGCCTGCA	0.363000														18			11		0	0	1	0	0
IL12A	3592	broad.mit.edu	37	3	159711579	159711579	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr3:159711579G>A	uc003fcx.3	+	5	775	c.554G>A	c.(553-555)aGg>aAg	p.R185K	AK097161_uc003fcw.1_Intron	NM_000882	NP_000873	P29459	IL12A_HUMAN	Homo sapiens interleukin 12A (natural killer cell stimulatory factor 1, cytotoxic lymphocyte maturation factor 1, p35) (IL12A), mRNA.	151					cell cycle arrest|cell migration|defense response to Gram-positive bacterium|immune response|negative regulation of interleukin-17 production|negative regulation of smooth muscle cell proliferation|positive regulation of NK T cell activation|positive regulation of T cell mediated cytotoxicity|positive regulation of cell adhesion|positive regulation of interferon-gamma production|positive regulation of natural killer cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|positive regulation of smooth muscle cell apoptosis|positive regulation of tyrosine phosphorylation of Stat4 protein|response to UV-B|response to lipopolysaccharide|response to virus	interleukin-12 complex	cytokine activity|growth factor activity|interleukin-12 receptor binding|interleukin-27 binding|protein heterodimerization activity			endometrium(3)|kidney(1)|large_intestine(1)|lung(4)	9			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			GATCCTAAGAGGCAGATCTTT	0.423000														70			67		0	0	1	0	0
CHRNA2	1135	broad.mit.edu	37	8	27321203	27321203	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr8:27321203G>A	uc010lur.3	-	5	1366	c.757C>T	c.(757-759)Ccc>Tcc	p.P253S	CHRNA2_uc011lal.2_Missense_Mutation_p.P238S|CHRNA2_uc010lus.3_Missense_Mutation_p.P55S	NM_000742	NP_000733	Q15822	ACHA2_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 2 (neuronal) (CHRNA2), mRNA.	253						cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0208)|Epithelial(17;2.77e-10)|Colorectal(74;0.136)	Atracurium(DB00732)|Biperiden(DB00810)|Carbachol(DB00411)|Cisatracurium Besylate(DB00565)|Decamethonium(DB01245)|Dextromethorphan(DB00514)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Gallamine Triethiodide(DB00483)|Levallorphan(DB00504)|Mecamylamine(DB00657)|Metocurine Iodide(DB00416)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicotine(DB00184)|Pancuronium(DB01337)|Pipecuronium(DB01338)|Rocuronium(DB00728)|Tubocurarine(DB01199)	GTGACGTCGGGGTAGATCTCG	0.602000														90			69		0	0	1	0	0
DDX42	11325	broad.mit.edu	37	17	61864432	61864432	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr17:61864432C>T	uc002jbu.3	+	2	280	c.23C>T	c.(22-24)cCt>cTt	p.P8L	DDX42_uc002jbv.3_Missense_Mutation_p.P8L	NM_007372	NP_987095	Q86XP3	DDX42_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 42 (DDX42), transcript variant 1, mRNA.	8					protein localization|regulation of anti-apoptosis	Cajal body|cytoplasm|nuclear speck	ATP binding|ATP-dependent helicase activity|RNA binding|protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)	46						AAAGGTGGTCCTGGCACTAAG	0.463000														125			111		0	0	1	0	0
PCGF3	10336	broad.mit.edu	37	4	755194	755195	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr4:755194_755195CC>TT	uc011bva.1	+	9	1065_1066	c.590_591CC>TT	c.(589-591)tcc>tTT	p.S197F	PCGF3_uc003gbd.1_Non-coding_Transcript|PCGF3_uc003gbe.3_Missense_Mutation_p.S197F|PCGF3_uc010ibh.3_Missense_Mutation_p.S197F|PCGF3_uc003gbh.3_Missense_Mutation_p.S163F	NM_006315	NP_006306	Q3KNV8	PCGF3_HUMAN	Homo sapiens polycomb group ring finger 3 (PCGF3), mRNA.	197					regulation of transcription, DNA-dependent|transcription, DNA-dependent	PcG protein complex	zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(1)	7						AACCTTTCATCCTTTAACGAGG	0.441000														73			49		0	0	1	0	0
TRAPPC11	60684	broad.mit.edu	37	4	184595963	184595963	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr4:184595963C>T	uc003ivx.3	+	5	860	c.658C>T	c.(658-660)Cag>Tag	p.Q220*	TRAPPC11_uc003ivw.3_Nonsense_Mutation_p.Q220*|TRAPPC11_uc010isc.3_Intron	NM_021942	NP_068761	Q7Z392	CD041_HUMAN	Homo sapiens trafficking protein particle complex 11 (TRAPPC11), transcript variant 1, mRNA.	220																	AACAACACACCAGGTGCGTGA	0.303000														15			21		0	0	1	0	0
CEACAM8	1088	broad.mit.edu	37	19	43093796	43093796	+	Silent	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr19:43093796C>T	uc002oud.2	-	2	618	c.516G>A	c.(514-516)caG>caA	p.Q172Q	AK311181_uc010eif.1_Intron|AK310497_uc010eig.1_Intron|AK310497_uc010eih.1_Intron	NM_001816	NP_001807	P31997	CEAM8_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 8 (CEACAM8), mRNA.	172	Ig-like C2-type 1.				immune response	anchored to membrane|extracellular space|integral to plasma membrane				endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	16		Prostate(69;0.00899)				AGGTTGTGTTCTGAGTCTCAG	0.567000														192			184		0	0	1	0	0
SMG7	9887	broad.mit.edu	37	1	183521048	183521048	+	Silent	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr1:183521048C>T	uc001gqg.3	+	21	3646	c.3396C>T	c.(3394-3396)acC>acT	p.T1132T	SMG7_uc001gqf.3_Intron|SMG7_uc001gqh.3_Silent_p.T1086T|SMG7_uc010poc.2_Silent_p.T1140T	NM_173156	NP_775179	Q92540	SMG7_HUMAN	Homo sapiens smg-7 homolog, nonsense mediated mRNA decay factor (C. elegans) (SMG7), transcript variant 1, mRNA.	1132					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						GACAAGGCACCATGAACCCTC	0.542000														62			31		0	0	1	0	0
BTAF1	9044	broad.mit.edu	37	10	93742421	93742421	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr10:93742421C>T	uc001khr.3	+	17	2224	c.2126C>T	c.(2125-2127)tCc>tTc	p.S709F	BTAF1_uc001khs.1_Missense_Mutation_p.S379F|BTAF1_uc001kht.1_Missense_Mutation_p.S147F	NM_003972	NP_003963	O14981	BTAF1_HUMAN	Homo sapiens BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa (Mot1 homolog, S. cerevisiae) (BTAF1), mRNA.	709					negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				CCAGCTGAATCCCTGGGCCAG	0.408000														25			29		0	0	1	0	0
MYT1L	23040	broad.mit.edu	37	2	1805525	1805525	+	Silent	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr2:1805525C>T	uc002qxe.3	-	22	4046	c.3219G>A	c.(3217-3219)aaG>aaA	p.K1073K	MYT1L_uc002qxd.3_Silent_p.K1071K|MYT1L_uc010ewk.3_Silent_p.K69K	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN	Homo sapiens myelin transcription factor 1-like (MYT1L), mRNA.	1073					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)		CATTTAGCTCCTTGATTTCTT	0.323000														57			46		0	0	1	0	0
ZNF440	126070	broad.mit.edu	37	19	11943126	11943126	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr19:11943126C>T	uc002msp.1	+	3	1291	c.1135C>T	c.(1135-1137)Cat>Tat	p.H379Y	ZNF440_uc021upk.1_5'Flank	NM_152357	NP_689570	Q8IYI8	ZN440_HUMAN	Homo sapiens zinc finger protein 440 (ZNF440), mRNA.	379					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(9)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						AGCCTTCCCTCATTCCAGTTC	0.418000														35			33		0	0	1	0	0
CYP26C1	340665	broad.mit.edu	37	10	94828205	94828205	+	Silent	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr10:94828205C>T	uc010qns.2	+	5	1320	c.1320C>T	c.(1318-1320)tcC>tcT	p.S440S	CYP26C1_uc009xud.3_Non-coding_Transcript	NM_183374	NP_899230	Q6V0L0	CP26C_HUMAN	Homo sapiens cytochrome P450, family 26, subfamily C, polypeptide 1 (CYP26C1), mRNA.	440					anterior/posterior pattern formation|central nervous system development|negative regulation of retinoic acid receptor signaling pathway|neural crest cell development|organelle fusion|retinoic acid catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			central_nervous_system(1)|lung(3)|ovary(1)	5		Colorectal(252;0.122)				GCGAAGATTCCCGGGGCGCCT	0.682000														41			35		0	0	1	0	0
ZCCHC11	23318	broad.mit.edu	37	1	52903962	52903962	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr1:52903962G>A	uc001cty.2	-	24	4121	c.3868C>T	c.(3868-3870)Ccc>Tcc	p.P1290S	ZCCHC11_uc001ctx.2_Missense_Mutation_p.P1290S|ZCCHC11_uc009vze.1_Missense_Mutation_p.P1290S	NM_001009881	NP_001009881	Q5TAX3	TUT4_HUMAN	Homo sapiens zinc finger, CCHC domain containing 11 (ZCCHC11), transcript variant 1, mRNA.	1290					RNA 3'-end processing|miRNA catabolic process|pre-miRNA processing|stem cell maintenance	cytoplasm|nucleolus	RNA uridylyltransferase activity|nucleic acid binding|protein binding|zinc ion binding			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						CTATCATTGGGAGCCAGTTCT	0.373000														81			54		0	0	1	0	0
CD180	4064	broad.mit.edu	37	5	66480205	66480205	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr5:66480205G>A	uc003juy.2	-	2	614	c.466C>T	c.(466-468)Ctt>Ttt	p.L156F		NM_005582	NP_005573	Q99467	CD180_HUMAN	Homo sapiens CD180 molecule (CD180), mRNA.	156					inflammatory response|innate immune response	integral to membrane|plasma membrane	receptor activity			cervix(1)|endometrium(2)|kidney(7)|large_intestine(12)|liver(1)|lung(8)|ovary(1)|stomach(2)	34		Lung NSC(167;4.94e-05)|Prostate(74;0.00601)|Ovarian(174;0.0654)|Breast(144;0.198)|Colorectal(97;0.234)		Lung(70;0.0046)		TTGCTTCCAAGATACAAGCTT	0.408000														77			63		0	0	1	0	0
TNP2	7142	broad.mit.edu	37	16	11363088	11363088	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr16:11363088G>A	uc002das.3	-	0	73	c.32C>T	c.(31-33)aCc>aTc	p.T11I	RMI2_uc002daq.1_Intron	NM_005425	NP_005416	Q05952	STP2_HUMAN	Homo sapiens transition protein 2 (during histone to protamine replacement) (TNP2), mRNA.	11					cell differentiation|multicellular organismal development|spermatogenesis	nucleosome|nucleus	DNA binding	p.0?(1)		large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	6						CTGAGTGTGGGTGATAGGAAG	0.602000														83			75		0	0	1	0	0
ANK1	286	broad.mit.edu	37	8	41572529	41572529	+	Silent	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr8:41572529G>A	uc003xok.3	-	14	1750	c.1666C>T	c.(1666-1668)Ctg>Ttg	p.L556L	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoi.3_Silent_p.L556L|ANK1_uc003xoj.3_Silent_p.L556L|ANK1_uc003xol.3_Silent_p.L556L|ANK1_uc003xom.3_Silent_p.L589L	NM_020476	NP_065209	P16157	ANK1_HUMAN	Homo sapiens ankyrin 1, erythrocytic (ANK1), transcript variant 1, mRNA.	556	89 kDa domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	p.L556Q(1)		breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			TCCCGCTCCAGCAGCAGCTCT	0.607000														84			53		0	0	1	0	0
TLR4	7099	broad.mit.edu	37	9	120470904	120470904	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr9:120470904C>T	uc004bjz.3	+	1	448	c.157C>T	c.(157-159)Ccc>Tcc	p.P53S	TLR4_uc004bkb.3_Intron|TLR4_uc004bka.3_Missense_Mutation_p.P13S	NM_138554	NP_612564	O00206	TLR4_HUMAN	Homo sapiens toll-like receptor 4 (TLR4), transcript variant 1, mRNA.	53					I-kappaB phosphorylation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T-helper 1 type immune response|Toll signaling pathway|activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|innate immune response|intestinal epithelial structure maintenance|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						CGACAACCTCCCCTTCTCAAC	0.433000														11			58		0	0	1	0	0
TNS3	64759	broad.mit.edu	37	7	47342834	47342834	+	Silent	SNP	C	G	G			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr7:47342834C>G	uc003tnw.3	-	21	3529	c.3171G>C	c.(3169-3171)gcG>gcC	p.A1057A	TNS3_uc022acn.1_Silent_p.A614A	NM_022748	NP_073585	Q68CZ2	TENS3_HUMAN	Homo sapiens tensin 3 (TNS3), mRNA.	1057						focal adhesion	protein binding			NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						CAGCCCCTGTCGCTGTCAGCG	0.667000														30			28		0	0	1	0	0
KPNA4	3840	broad.mit.edu	37	3	160249302	160249302	+	Missense_Mutation	SNP	T	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr3:160249302T>A	uc003fdn.3	-	5	637	c.331A>T	c.(331-333)Ata>Tta	p.I111L		NM_002268	NP_002259	O00629	IMA4_HUMAN	Homo sapiens karyopherin alpha 4 (importin alpha 3) (KPNA4), mRNA.	111					NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)	22			Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)			CCAGATTTTATTAAGTCATCA	0.279000														47			52		0	0	1	0	0
ACTC1	70	broad.mit.edu	37	15	35083365	35083365	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr15:35083365G>A	uc001ziu.1	-	5	1183	c.940C>T	c.(940-942)Cgt>Tgt	p.R314C	AK092087_uc001zit.1_Intron	NM_005159	NP_005150	P68032	ACTC_HUMAN	Homo sapiens actin, alpha, cardiac muscle 1 (ACTC1), mRNA.	314			R -> H (in CMD1R).		apoptosis|cardiac muscle tissue morphogenesis|cardiac myofibril assembly|muscle filament sliding|skeletal muscle thin filament assembly	I band|actomyosin, actin part|cytosol	ATP binding|ATPase activity|myosin binding			central_nervous_system(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	31		all_lung(180;2.3e-08)		all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		TTCTGCATACGATCAGCAATA	0.438000														160			147		0	0	1	0	0
MCTP1	79772	broad.mit.edu	37	5	94224666	94224666	+	Silent	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr5:94224666C>T	uc003kkx.2	-	11	1851	c.1851G>A	c.(1849-1851)agG>agA	p.R617R	MCTP1_uc003kkv.2_Silent_p.R396R|MCTP1_uc003kkw.2_Silent_p.R350R|MCTP1_uc003kkz.2_Silent_p.R278R|MCTP1_uc003kku.2_Silent_p.R133R	NM_024717	NP_078993	Q6DN14	MCTP1_HUMAN	Homo sapiens multiple C2 domains, transmembrane 1 (MCTP1), transcript variant L, mRNA.	617	C2 3.				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding	p.R617S(4)		breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		TGTGAAATATCCTCAATGGGC	0.423000														41			45		0	0	1	0	0
TOR4A	54863	broad.mit.edu	37	9	140174297	140174297	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr9:140174297C>T	uc022bqh.1	+	0	1156	c.1156C>T	c.(1156-1158)Cct>Tct	p.P386S	TOR4A_uc004cmn.3_Missense_Mutation_p.P386S	NM_017723	NP_060193	Q9NXH8	CI167_HUMAN	Homo sapiens chromosome 9 open reading frame 167 (C9orf167), mRNA.	386					chaperone mediated protein folding requiring cofactor	integral to membrane	ATP binding|nucleoside-triphosphatase activity										GGGCTTCTTTCCTGACCAGGC	0.682000														0			4		0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	20975860	20975860	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr16:20975860C>T	uc010vbe.2	-	52	9346	c.9346G>A	c.(9346-9348)Gaa>Aaa	p.E3116K	DNAH3_uc010vbd.2_Missense_Mutation_p.E551K	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	3116	AAA 5 (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)		AGCGCGTTTTCCAGCATCCTC	0.458000														105			96		0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168105217	168105217	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr2:168105217G>A	uc002udx.3	+	8	7404	c.7315G>A	c.(7315-7317)Gat>Aat	p.D2439N	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.D2264N|XIRP2_uc010fpq.3_Missense_Mutation_p.D2217N|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	2264					actin cytoskeleton organization	cell junction	actin binding	p.D2439N(2)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TAATAAGAACGATTTTTCCCC	0.408000														69			63		0	0	1	0	0
FASN	2194	broad.mit.edu	37	17	80047256	80047257	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr17:80047256_80047257GG>AA	uc002kdu.3	-	12	2086_2087	c.1969_1970CC>TT	c.(1969-1971)ccg>TTg	p.P657L	FASN_uc002kdw.1_5'Flank	NM_004104	NP_004095	P49327	FAS_HUMAN	Homo sapiens fatty acid synthase (FASN), mRNA.	657	Acyl and malonyl transferases (By similarity).				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	Golgi apparatus|cytosol|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	CTCAAACACCGGGGCCTGGACA	0.629000														69			56		0	0	1	0	0
PKN1	5585	broad.mit.edu	37	19	14581614	14581614	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr19:14581614G>A	uc002myp.3	+	20	2744	c.2576G>A	c.(2575-2577)gGa>gAa	p.G859E	PKN1_uc002myq.3_Missense_Mutation_p.G865E	NM_002741	NP_002732	Q16512	PKN1_HUMAN	Homo sapiens protein kinase N1 (PKN1), transcript variant 2, mRNA.	859	Protein kinase.				activation of JUN kinase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	endosome|nucleus|plasma membrane	ATP binding|GTP-Rho binding|Rac GTPase binding|androgen receptor binding|chromatin binding|histone binding|histone deacetylase binding|histone kinase activity (H3-T11 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding	p.L858L(1)		breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)	31						CGGAGGCTGGGATCTAGCGAG	0.637000														104			89		0	0	1	0	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	117300	117300	+	RNA	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chrGL000205.1:117300G>A	uc002kgk.4	+	0		c.678G>A								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		CTGCTGGATGGACGGGACTGC	0.552000														98			9		0	0	1	0	0
COL6A5	256076	broad.mit.edu	37	3	130159541	130159541	+	Missense_Mutation	SNP	G	A	A	rs146634521	by1000genomes	TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr3:130159541G>A	uc010htj.1	+	34	6853	c.6359G>A	c.(6358-6360)cGt>cAt	p.R2120H	COL6A5_uc010hti.1_Non-coding_Transcript|COL6A5_uc021xdz.1_Missense_Mutation_p.R159H|COL6A5_uc010htk.1_Missense_Mutation_p.R159H	NM_153264	NP_694996	A8TX70	CO6A5_HUMAN	Homo sapiens collagen, type VI, alpha 5 (COL6A5), mRNA.	2120	Nonhelical region.|VWFA 9.				axon guidance|cell adhesion	collagen				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						GGCTCTACACGTAAGGATGAC	0.408000														30			25		0	0	1	0	0
FAM172A	83989	broad.mit.edu	37	5	93217390	93217390	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr5:93217390C>T	uc010jbd.3	-	6	779	c.572G>A	c.(571-573)gGa>gAa	p.G191E	FAM172A_uc011cuf.2_Missense_Mutation_p.G145E|FAM172A_uc011cug.2_Missense_Mutation_p.G81E|FAM172A_uc011cuh.2_Missense_Mutation_p.G44E|FAM172A_uc011cui.2_Non-coding_Transcript|FAM172A_uc011cuj.2_Intron|FAM172A_uc003kkm.4_Missense_Mutation_p.G191E	NM_032042	NP_001156889	Q8WUF8	F172A_HUMAN	Homo sapiens family with sequence similarity 172, member A (FAM172A), transcript variant 1, mRNA.	191						endoplasmic reticulum|extracellular region				endometrium(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	9						TACTCCATATCCTTCCTGTTT	0.294000														16			10		0	0	1	0	0
LAMA4	3910	broad.mit.edu	37	6	112443370	112443370	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr6:112443370G>A	uc003pvu.2	-	31	4631	c.4322C>T	c.(4321-4323)cCt>cTt	p.P1441L	LAMA4_uc003pvv.2_Missense_Mutation_p.P1434L|LAMA4_uc003pvt.2_Missense_Mutation_p.P1434L	NM_001105206	NP_001098676	Q16363	LAMA4_HUMAN	Homo sapiens laminin, alpha 4 (LAMA4), transcript variant 1, mRNA.	1441					cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		CAGAGCAACAGGATCCCATGA	0.418000														42			27		0	0	1	0	0
HHIP	64399	broad.mit.edu	37	4	145655996	145655996	+	Nonsense_Mutation	SNP	A	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr4:145655996A>T	uc003ijs.2	+	11	2544	c.1864A>T	c.(1864-1866)Aag>Tag	p.K622*		NM_022475	NP_071920	Q96QV1	HHIP_HUMAN	Homo sapiens hedgehog interacting protein (HHIP), mRNA.	622	EGF-like 1.					cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		CCCCACGGGAAAGTGCTGCTG	0.532000														59			47		0	0	1	0	0
SP140	11262	broad.mit.edu	37	2	231118084	231118084	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr2:231118084G>A	uc002vql.3	+	10	1226	c.1111G>A	c.(1111-1113)Gaa>Aaa	p.E371K	SP140_uc010zma.1_Non-coding_Transcript|SP140_uc002vqk.2_Intron|SP140_uc002vqn.3_Intron|SP140_uc002vqm.3_Intron|SP140_uc010fxl.3_Missense_Mutation_p.E371K	NM_007237	NP_009168	Q13342	LY10_HUMAN	Homo sapiens SP140 nuclear body protein (SP140), transcript variant 1, mRNA.	371					defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		AGTCACTAATGAAGGAGAACC	0.418000														5			47		0	0	1	0	0
OR5I1	10798	broad.mit.edu	37	11	55703825	55703825	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr11:55703825C>T	uc010ris.2	-	0	52	c.52G>A	c.(52-54)Ggt>Agt	p.G18S		NM_006637	NP_006628	Q13606	OR5I1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily I, member 1 (OR5I1), mRNA.	18					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						GTTGGAAAACCTAATAGAATA	0.368000														23			22		0	0	1	0	0
CREB3L2	64764	broad.mit.edu	37	7	137612928	137612928	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr7:137612928G>A	uc003vtw.3	-	1	683	c.287C>T	c.(286-288)aCc>aTc	p.T96I	CREB3L2_uc003vtx.2_Missense_Mutation_p.T96I|CREB3L2_uc003vty.4_Missense_Mutation_p.T96I|CREB3L2_uc003vtv.3_Missense_Mutation_p.T33I	NM_194071	NP_919047	Q70SY1	CR3L2_HUMAN	Homo sapiens cAMP responsive element binding protein 3-like 2 (CREB3L2), transcript variant 1, mRNA.	96					chondrocyte differentiation|positive regulation of transcription, DNA-dependent|response to endoplasmic reticulum stress|response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	cAMP response element binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		FUS/CREB3L2(158)	breast(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						GGTAATGTGGGTGAAGGGCGA	0.597000			T	FUS	fibromyxoid sarcoma									6			7		0	0	1	0	0
GRIK4	2900	broad.mit.edu	37	11	120745942	120745942	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr11:120745942G>A	uc001pxn.2	+	10	1441	c.1154G>A	c.(1153-1155)gGt>gAt	p.G385D	GRIK4_uc009zav.1_Missense_Mutation_p.G385D|GRIK4_uc009zaw.1_Missense_Mutation_p.G385D|GRIK4_uc009zax.1_Missense_Mutation_p.G385D	NM_014619	NP_055434	Q16099	GRIK4_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 4 (GRIK4), mRNA.	385					glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	L-Glutamic Acid(DB00142)	ACAAGGAATGGTTTTCGGCAG	0.502000														36			26		0	0	1	0	0
NRAP	4892	broad.mit.edu	37	10	115411616	115411616	+	Silent	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr10:115411616C>T	uc001lal.3	-	6	785	c.621G>A	c.(619-621)gtG>gtA	p.V207V	NRAP_uc001laj.3_Silent_p.V207V|NRAP_uc001lak.3_Silent_p.V207V	NM_198060	NP_932326	Q86VF7	NRAP_HUMAN	Homo sapiens nebulin-related anchoring protein (NRAP), transcript variant 2, mRNA.	207						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		GAGTATCCACCACCGTGGAGA	0.542000														62			31		0	0	1	0	0
CAMK4	814	broad.mit.edu	37	5	110784843	110784843	+	Silent	SNP	T	C	C			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr5:110784843T>C	uc003kpf.3	+	6	802	c.567T>C	c.(565-567)tcT>tcC	p.S189S	CAMK4_uc010jbv.3_5'UTR	NM_001744	NP_001735	Q16566	KCC4_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase IV (CAMK4), mRNA.	189	Protein kinase.				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission	cytosol|nucleoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	30		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)		TTGGACTCTCTAAAATTGTGG	0.303000														22			17		0	0	1	0	0
ARID4B	51742	broad.mit.edu	37	1	235338498	235338498	+	Splice_Site	SNP	C	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr1:235338498C>A	uc021pks.1	-	22	4041	c.3664_splice	c.e22+1	p.S1222_splice	ARID4B_uc001hwq.3_Splice_Site_p.S1222_splice|ARID4B_uc001hwr.3_Splice_Site_p.S1136_splice|RBM34_uc001hwp.3_Splice_Site	NM_001206794	NP_001193723	Q4LE39	ARI4B_HUMAN	Homo sapiens AT rich interactive domain 4B (RBP1-like) (ARID4B), transcript variant 3, mRNA.	1222					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding			NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			ATGTCACTTACACATCTGAAA	0.363000														45			36		1.836e-18	1.85278e-18	1	1	0
NPHS1	4868	broad.mit.edu	37	19	36322274	36322274	+	Splice_Site	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr19:36322274C>T	uc002oby.3	-	26	3468	c.3312_splice	c.e26-1	p.G1104_splice	NPHS1_uc010eem.1_Splice_Site	NM_004646	NP_004637	O60500	NPHN_HUMAN	Homo sapiens nephrosis 1, congenital, Finnish type (nephrin) (NPHS1), mRNA.	1104					cell adhesion|excretion|muscle organ development	integral to plasma membrane				NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CTCTTCCGACCTTCCAGGATG	0.587000														162			140		0	0	1	0	0
MARCO	8685	broad.mit.edu	37	2	119735491	119735491	+	Missense_Mutation	SNP	A	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr2:119735491A>T	uc002tln.1	+	7	878	c.746A>T	c.(745-747)aAa>aTa	p.K249I	MARCO_uc010yyf.1_Missense_Mutation_p.K171I	NM_006770	NP_006761	Q9UEW3	MARCO_HUMAN	Homo sapiens macrophage receptor with collagenous structure (MARCO), mRNA.	249	Collagen-like.				cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity	p.E248V(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						AAGGGAGAGAAAGGAGACCTG	0.592000														22			12		0	0	1	0	0
KCNK1	3775	broad.mit.edu	37	1	233750043	233750043	+	Silent	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr1:233750043C>T	uc010pxo.1	+	0	294	c.126C>T	c.(124-126)tcC>tcT	p.S42S		NM_002245	NP_002236	O00180	KCNK1_HUMAN	Homo sapiens potassium channel, subfamily K, member 1 (KCNK1), mRNA.	42						voltage-gated potassium channel complex	inward rectifier potassium channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	11		all_cancers(173;0.00217)|all_epithelial(177;0.121)|Prostate(94;0.122)|Acute lymphoblastic leukemia(190;0.175)			Ibutilide(DB00308)|Quinidine(DB00908)	TGGTCTTCTCCTCGGTGGAGC	0.657000														21			9		0	0	1	0	0
MAGEB6	158809	broad.mit.edu	37	X	26212915	26212915	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chrX:26212915G>A	uc022buc.1	+	0	952	c.952G>A	c.(952-954)Gat>Aat	p.D318N	MAGEB6_uc004dbr.3_Missense_Mutation_p.D318N	NM_173523	NP_775794	Q8N7X4	MAGB6_HUMAN	Homo sapiens melanoma antigen family B, 6 (MAGEB6), mRNA.	318	MAGE.									breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						GGGGATATATGATGGGATCCT	0.502000														10			171		0	0	1	0	0
SI	6476	broad.mit.edu	37	3	164741375	164741375	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr3:164741375C>T	uc003fei.3	-	25	3145	c.3082G>A	c.(3082-3084)Gat>Aat	p.D1028N		NM_001041	NP_001032	P14410	SUIS_HUMAN	Homo sapiens sucrase-isomaltase (alpha-glucosidase) (SI), mRNA.	1028	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	Golgi apparatus|apical plasma membrane|brush border|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TGCAACATATCATTTTTGTGA	0.353000										HNSCC(35;0.089)				25			24		0	0	1	0	0
E2F8	79733	broad.mit.edu	37	11	19252297	19252297	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr11:19252297G>A	uc001mpm.3	-	7	1673	c.1151C>T	c.(1150-1152)tCc>tTc	p.S384F	E2F8_uc009yhv.3_Intron|E2F8_uc001mpn.4_Missense_Mutation_p.S384F	NM_024680	NP_078956	A0AVK6	E2F8_HUMAN	Homo sapiens E2F transcription factor 8 (E2F8), transcript variant 1, mRNA.	384					cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CCCACGTGTGGAAAAGAGGTT	0.433000														35			36		0	0	1	0	0
FBN2	2201	broad.mit.edu	37	5	127702115	127702115	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr5:127702115G>A	uc003kuu.3	-	16	2696	c.2257C>T	c.(2257-2259)Cac>Tac	p.H753Y	FBN2_uc003kuv.2_Missense_Mutation_p.H720Y	NM_001999	NP_001990	P35556	FBN2_HUMAN	Homo sapiens fibrillin 2 (FBN2), mRNA.	753	TB 3.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CAAAGGCCGTGGAATTCAGCT	0.333000														0			8		0	0	1	0	0
YSK4	80122	broad.mit.edu	37	2	135744965	135744965	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr2:135744965C>T	uc002tue.1	-	6	1508	c.1477G>A	c.(1477-1479)Gga>Aga	p.G493R	YSK4_uc002tuf.1_Intron|YSK4_uc010fnc.1_Intron|YSK4_uc010fnd.1_Missense_Mutation_p.G380R|YSK4_uc010zbg.1_Intron|YSK4_uc002tuh.4_Missense_Mutation_p.G221R|YSK4_uc002tui.4_Missense_Mutation_p.G510R	NM_025052	NP_079328	Q56UN5	YSK4_HUMAN	Homo sapiens YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae) (YSK4), transcript variant 1, mRNA.	493							ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(221;0.112)		TTGGGGCTTCCATCCACAGGG	0.433000														32			37		0	0	1	0	0
MLL3	58508	broad.mit.edu	37	7	151845931	151845931	+	Missense_Mutation	SNP	T	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr7:151845931T>A	uc003wla.3	-	51	13300	c.13081A>T	c.(13081-13083)Agc>Tgc	p.S4361C	MLL3_uc003wkz.3_Missense_Mutation_p.S3479C|MLL3_uc003wkx.3_Missense_Mutation_p.S519C|MLL3_uc003wky.3_Missense_Mutation_p.S1925C	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	4361					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	p.W4360*(1)		NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		ATATGAATGCTCCACTTCTTC	0.428000			N		medulloblastoma									40			34		0	0	1	0	0
ZNF124	7678	broad.mit.edu	37	1	247320566	247320566	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr1:247320566C>T	uc001ick.3	-	3	497	c.358G>A	c.(358-360)Gga>Aga	p.G120R	ZNF124_uc001ici.3_Intron|ZNF124_uc001icj.1_Intron	NM_003431	NP_003422	Q15973	ZN124_HUMAN	Homo sapiens zinc finger protein 124 (ZNF124), transcript variant 1, mRNA.	120					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			biliary_tract(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(3)|urinary_tract(2)	14	all_cancers(71;5.07e-05)|all_epithelial(71;8.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0488)|Lung NSC(105;0.053)		OV - Ovarian serous cystadenocarcinoma(106;0.00739)			CCATAATGTCCATTTCCAGTG	0.378000														19			11		0	0	1	0	0
TLR3	7098	broad.mit.edu	37	4	187004356	187004356	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr4:187004356C>T	uc003iyq.3	+	3	1617	c.1516C>T	c.(1516-1518)Cgt>Tgt	p.R506C	TLR3_uc011ckz.2_Missense_Mutation_p.R229C|TLR3_uc003iyr.3_Missense_Mutation_p.R229C	NM_003265	NP_003256	O15455	TLR3_HUMAN	Homo sapiens toll-like receptor 3 (TLR3), mRNA.	506					I-kappaB phosphorylation|MyD88-independent toll-like receptor signaling pathway|activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|inflammatory response|innate immune response|negative regulation of osteoclast differentiation|positive regulation of NF-kappaB import into nucleus|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway	endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane	double-stranded RNA binding|transmembrane receptor activity			breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		CCAGCCTCTTCGTAACTTGAC	0.453000														84			49		0	0	1	0	0
TMEM215	401498	broad.mit.edu	37	9	32784518	32784518	+	Missense_Mutation	SNP	A	G	G			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr9:32784518A>G	uc022bfh.1	+	0	337	c.337A>G	c.(337-339)Aag>Gag	p.K113E	TMEM215_uc003zri.4_Missense_Mutation_p.K113E	NM_212558	NP_997723	Q68D42	TM215_HUMAN	Homo sapiens transmembrane protein 215 (TMEM215), mRNA.	113						integral to membrane		p.A112T(1)		endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|prostate(2)	12						TGAGCTGGCTAAGAAGGCGGG	0.607000														1			49		0	0	1	0	0
CEACAM20	125931	broad.mit.edu	37	19	45016928	45016928	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr19:45016928G>A	uc010ejn.1	-	8	1527	c.1511C>T	c.(1510-1512)tCc>tTc	p.S504F	CEACAM20_uc010ejo.1_Missense_Mutation_p.S504F|CEACAM20_uc010ejp.1_Missense_Mutation_p.S411F|CEACAM20_uc010ejq.1_Missense_Mutation_p.S411F	NM_001102597	NP_001096067	Q6UY09	CEA20_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 20 (CEACAM20), transcript variant 5L, mRNA.	504						integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15		Prostate(69;0.0352)				TCACTTACCGGAACTGGGCTC	0.602000											OREG0025538	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		18			9		0	0	1	0	0
NME4	4833	broad.mit.edu	37	16	449673	449673	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr16:449673G>A	uc002cgz.3	+	3	405	c.374G>A	c.(373-375)gGa>gAa	p.G125E	DECR2_uc021szq.1_5'Flank|DECR2_uc002chb.3_5'Flank|DECR2_uc002chc.3_5'Flank|DECR2_uc002chd.3_5'Flank	NM_005009	NP_005000	O00746	NDKM_HUMAN	Homo sapiens non-metastatic cells 4, protein expressed in (NME4), nuclear gene encoding mitochondrial protein, mRNA.	125					CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion	mitochondrial inner membrane|mitochondrial intermembrane space	ATP binding|metal ion binding|nucleoside diphosphate kinase activity			NS(1)|lung(1)|stomach(1)|urinary_tract(1)	4		Hepatocellular(16;0.00015)				GCCATGATTGGACACACCGAC	0.617000														102			110		0	0	1	0	0
CNTN2	6900	broad.mit.edu	37	1	205030522	205030522	+	Missense_Mutation	SNP	C	T	T	rs139732336	byFrequency	TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr1:205030522C>T	uc001hbr.3	+	7	1216	c.947C>T	c.(946-948)aCc>aTc	p.T316I	CNTN2_uc001hbq.1_Missense_Mutation_p.T207I|CNTN2_uc009xbi.3_Missense_Mutation_p.T207I|CNTN2_uc001hbs.3_Missense_Mutation_p.T104I	NM_005076	NP_005067	Q02246	CNTN2_HUMAN	Homo sapiens contactin 2 (axonal) (CNTN2), mRNA.	316	Ig-like C2-type 3.				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			GGCCGAGACACCGTGCAGGGC	0.642000											OREG0014144	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		25			21		0	0	1	0	0
GSTM5	2949	broad.mit.edu	37	1	110255296	110255296	+	Silent	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr1:110255296G>A	uc001dyn.3	+	1	164	c.93G>A	c.(91-93)aaG>aaA	p.K31K	GSTM5_uc010ovu.1_5'UTR	NM_000851	NP_000842	P46439	GSTM5_HUMAN	Homo sapiens glutathione S-transferase mu 5 (GSTM5), mRNA.	31	GST N-terminal.				xenobiotic metabolic process	endoplasmic reticulum membrane	glutathione transferase activity			NS(1)|central_nervous_system(6)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	21		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Colorectal(144;0.0131)|all cancers(265;0.0252)|Epithelial(280;0.0265)|Lung(183;0.0425)|COAD - Colon adenocarcinoma(174;0.0474)|LUSC - Lung squamous cell carcinoma(189;0.228)	Glutathione(DB00143)	ATGTGGAAAAGAAGTACACGC	0.632000														89			86		0	0	1	0	0
CNTN3	5067	broad.mit.edu	37	3	74347288	74347288	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr3:74347288G>A	uc003dpm.1	-	16	2301	c.2221C>T	c.(2221-2223)Cgc>Tgc	p.R741C		NM_020872	NP_065923	Q9P232	CNTN3_HUMAN	Homo sapiens contactin 3 (plasmacytoma associated) (CNTN3), mRNA.	741	Fibronectin type-III 2.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		CCAAGAGGGCGGAAAGCAACA	0.463000														44			32		0	0	1	0	0
OR5M11	219487	broad.mit.edu	37	11	56309822	56309822	+	Silent	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr11:56309822C>T	uc010rjl.2	-	0	912	c.912G>A	c.(910-912)ctG>ctA	p.L304L	OR8U8_uc001nit.2_Intron	NM_001005245	NP_001005245	Q96RB7	OR5MB_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 11 (OR5M11), mRNA.	304					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)	18						TATTTCATCTCAGGACATTCT	0.383000														26			12		0	0	1	0	0
JAKMIP2	9832	broad.mit.edu	37	5	147024539	147024539	+	Silent	SNP	G	A	A	rs147082202	byFrequency	TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr5:147024539G>A	uc010jgo.1	-	4	1105	c.957C>T	c.(955-957)acC>acT	p.T319T	JAKMIP2_uc003loq.1_Silent_p.T319T|JAKMIP2_uc011dbx.1_Silent_p.T277T|JAKMIP2_uc003lor.1_Silent_p.T319T|LOC153469_uc003lop.1_Intron	NM_014790	NP_055605	Q96AA8	JKIP2_HUMAN	Homo sapiens janus kinase and microtubule interacting protein 2 (JAKMIP2), mRNA.	319						Golgi apparatus				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATTGCTTTTCGGTTTCCCGCA	0.483000														7			62		0	0	1	0	0
TPM1	7168	broad.mit.edu	37	15	63349244	63349244	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr15:63349244C>T	uc002alm.3	+	3	618	c.427C>T	c.(427-429)Cgt>Tgt	p.R143C	TPM1_uc002alg.3_Missense_Mutation_p.R101C|TPM1_uc002alh.3_Missense_Mutation_p.R101C|TPM1_uc002ali.3_Missense_Mutation_p.R101C|TPM1_uc002alj.3_Missense_Mutation_p.R101C|TPM1_uc002alk.3_Missense_Mutation_p.R101C|TPM1_uc002all.3_Missense_Mutation_p.R101C|TPM1_uc010uie.2_Missense_Mutation_p.R101C|TPM1_uc002alp.3_Missense_Mutation_p.R101C|TPM1_uc010uif.2_Missense_Mutation_p.R65C|TPM1_uc002alr.3_Missense_Mutation_p.R65C|TPM1_uc002als.3_Missense_Mutation_p.R65C|TPM1_uc010uig.2_Missense_Mutation_p.R65C|TPM1_uc002alt.3_Missense_Mutation_p.R65C	NM_001018008	NP_001018008	P09493	TPM1_HUMAN	Homo sapiens tropomyosin 1 (alpha) (TPM1), transcript variant 6, mRNA.	101					cardiac muscle contraction|cellular component movement|cellular response to reactive oxygen species|muscle filament sliding|negative regulation of cell migration|positive regulation of ATPase activity|positive regulation of cell adhesion|positive regulation of heart rate by epinephrine|positive regulation of stress fiber assembly|regulation of muscle contraction|ruffle organization|sarcomere organization|ventricular cardiac muscle tissue morphogenesis|wound healing	bleb|cytosol|muscle thin filament tropomyosin|ruffle membrane|stress fiber	actin binding|structural constituent of cytoskeleton|structural constituent of muscle			endometrium(1)|large_intestine(1)|lung(2)	4						AGAGTTGGATCGTGCCCAGGA	0.517000														165			112		0	0	1	0	0
SLIT3	6586	broad.mit.edu	37	5	168098237	168098237	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr5:168098237C>T	uc010jjg.3	-	33	4534	c.4114G>A	c.(4114-4116)Gat>Aat	p.D1372N	SLIT3_uc003mab.3_Missense_Mutation_p.D1365N	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA.	1365	EGF-like 8.				Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus	extracellular space|mitochondrion	Roundabout binding|calcium ion binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GCCTCCTGATCGCAGAGTGGG	0.687000														5			30		0	0	1	0	0
PEG3	5178	broad.mit.edu	37	19	57334138	57334138	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr19:57334138G>A	uc002qnu.2	-	2	899	c.548C>T	c.(547-549)aCc>aTc	p.T183I	PEG3_uc010ygr.1_5'UTR|PEG3_uc010ygq.1_5'UTR|PEG3_uc002qnr.2_Missense_Mutation_p.T58I|PEG3_uc010etp.2_Missense_Mutation_p.T58I|PEG3_uc010ygs.1_Missense_Mutation_p.T58I|PEG3_uc002qnq.2_Missense_Mutation_p.T58I|PEG3_uc002qnt.2_Missense_Mutation_p.T184I|PEG3_uc002qnv.2_Missense_Mutation_p.T183I|PEG3_uc002qnw.2_Missense_Mutation_p.T58I|PEG3_uc002qnx.2_Missense_Mutation_p.T57I|PEG3_uc010etr.2_Missense_Mutation_p.T183I	NM_001146186	NP_001139657	Q9GZU2	PEG3_HUMAN	Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA.	183					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TGGGTTCCTGGTGTGGGACCA	0.552000														34			27		0	0	1	0	0
MYOF	26509	broad.mit.edu	37	10	95147579	95147579	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr10:95147579G>A	uc001kin.3	-	18	1796	c.1673C>T	c.(1672-1674)tCa>tTa	p.S558L	MYOF_uc001kio.3_Missense_Mutation_p.S545L	NM_013451	NP_038479	Q9NZM1	MYOF_HUMAN	Homo sapiens myoferlin (MYOF), transcript variant 1, mRNA.	558					blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding	p.I557T(1)		NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						GTCATCATTTGAAATGGGCTC	0.468000														96			84		0	0	1	0	0
ASH1L	55870	broad.mit.edu	37	1	155313166	155313166	+	Silent	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr1:155313166G>A	uc009wqq.3	-	23	8727	c.8247C>T	c.(8245-8247)atC>atT	p.I2749I	ASH1L_uc001fkt.3_Silent_p.I2744I	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	Homo sapiens ash1 (absent, small, or homeotic)-like (Drosophila) (ASH1L), mRNA.	2749	BAH.				DNA packaging|cell-cell signaling|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|chromosome|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			CCAAGGGAATGATCTCATAGA	0.468000														69			94		0	0	1	0	0
SGSM2	9905	broad.mit.edu	37	17	2278814	2278815	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr17:2278814_2278815CC>TT	uc002fum.4	+	17	2306_2307	c.2129_2130CC>TT	c.(2128-2130)ccc>cTT	p.P710L	SGSM2_uc002fun.4_Missense_Mutation_p.P665L|SGSM2_uc010vqw.2_Missense_Mutation_p.P665L|SGSM2_uc002fuq.3_5'Flank	NM_014853	NP_055668	O43147	SGSM2_HUMAN	Homo sapiens small G protein signaling modulator 2 (SGSM2), transcript variant 1, mRNA.	665	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115)		GATCTGGAACCCCCGGAGCCCC	0.653000														54			50		0	0	1	0	0
GPATCH1	55094	broad.mit.edu	37	19	33597613	33597613	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr19:33597613C>T	uc002nug.1	+	9	1407	c.1093C>T	c.(1093-1095)Cca>Tca	p.P365S		NM_018025	NP_060495	Q9BRR8	GPTC1_HUMAN	Homo sapiens G patch domain containing 1 (GPATCH1), mRNA.	365						catalytic step 2 spliceosome	nucleic acid binding			breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40	Esophageal squamous(110;0.137)					CTATCCACCTCCAGAGCTGCC	0.458000														104			63		0	0	1	0	0
U2SURP	23350	broad.mit.edu	37	3	142762057	142762057	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr3:142762057C>T	uc003evh.1	+	23	2582	c.2483C>T	c.(2482-2484)tCt>tTt	p.S828F	U2SURP_uc003evi.1_Missense_Mutation_p.S419F|U2SURP_uc003evj.1_Non-coding_Transcript|U2SURP_uc003evk.1_Missense_Mutation_p.S827F|U2SURP_uc003evl.1_Missense_Mutation_p.S395F	NM_001080415	NP_001073884	O15042	SR140_HUMAN	Homo sapiens U2 snRNP-associated SURP domain containing (U2SURP), mRNA.	828	Glu-rich.				RNA processing	nucleus	RNA binding|nucleotide binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	31						ATGACTGAGTCTAAGTTCTCT	0.353000														6			7		0	0	1	0	0
C10orf71	118461	broad.mit.edu	37	10	50531240	50531240	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr10:50531240G>A	uc021pqb.1	+	0	650	c.650G>A	c.(649-651)gGa>gAa	p.G217E	C10orf71_uc021pqa.1_Missense_Mutation_p.G216E|C10orf71_uc021pqc.1_Missense_Mutation_p.G217E	NM_001135196	NP_001128668	Q711Q0	CJ071_HUMAN	Homo sapiens chromosome 10 open reading frame 71 (C10orf71), transcript variant 1, mRNA.	217										endometrium(1)	1						AGGAAGCACGGAGAACAGGAG	0.547000														40			35		0	0	1	0	0
C10orf96	374355	broad.mit.edu	37	10	118084885	118084885	+	Silent	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr10:118084885C>T	uc001lck.3	+	2	401	c.150C>T	c.(148-150)atC>atT	p.I50I		NM_198515	NP_940917	P0C7W6	CJ096_HUMAN	Homo sapiens chromosome 10 open reading frame 96 (C10orf96), mRNA.	50										kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)	18		Lung NSC(174;0.204)|all_lung(145;0.248)		all cancers(201;0.014)		AAGAGAAAATCAAGCTGGAAT	0.333000														19			9		0	0	1	0	0
XKR7	343702	broad.mit.edu	37	20	30584690	30584690	+	Silent	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr20:30584690C>T	uc002wxe.3	+	2	1344	c.1170C>T	c.(1168-1170)atC>atT	p.I390I		NM_001011718	NP_001011718	Q5GH72	XKR7_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 7 (XKR7), mRNA.	390						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			ACCACTGCATCGTCCTGCTGG	0.582000														45			35		0	0	1	0	0
SALL1	6299	broad.mit.edu	37	16	51175717	51175717	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr16:51175717G>A	uc021tif.1	-	1	447	c.125C>T	c.(124-126)aCt>aTt	p.T42I	SALL1_uc021tid.1_Missense_Mutation_p.T42I|SALL1_uc021tie.1_Missense_Mutation_p.T139I|SALL1_uc010cbv.3_Intron	NM_001127892	NP_001121364	Q9NSC2	SALL1_HUMAN	Homo sapiens sal-like 1 (Drosophila) (SALL1), transcript variant 2, mRNA.	139					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	DNA binding|beta-catenin binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.D41H(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)			GCCGCTGGAAGTGCCGCTGCC	0.632000														47			29		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82580617	82580617	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr7:82580617G>A	uc003uhx.2	-	5	9576	c.9287C>T	c.(9286-9288)cCa>cTa	p.P3096L	PCLO_uc003uhv.2_Missense_Mutation_p.P3096L|PCLO_uc010lec.3_Missense_Mutation_p.P61L	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	3027					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.P3096A(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						AGAGGGTGTTGGAGTTGCTAC	0.468000														15			9		0	0	1	0	0
CFHR1	3078	broad.mit.edu	37	1	196762513	196762513	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr1:196762513G>A	uc001gtl.3	+	5	950	c.863G>A	c.(862-864)aGa>aAa	p.R288K	CFH_uc021pgt.1_Intron|CFHR1_uc010poy.2_Missense_Mutation_p.R227K|CFHR1_uc001gtm.3_Intron	NM_021023	NP_066303	Q03591	FHR1_HUMAN	Homo sapiens complement factor H-related 3 (CFHR3), transcript variant 1, mRNA.	286	Sushi 5.				complement activation	extracellular space				NS(1)|kidney(1)|large_intestine(2)|lung(7)	11						AGAAGTGACAGAAAATATTAT	0.279000														48			33		0	0	1	0	0
SCN3B	55800	broad.mit.edu	37	11	123508998	123508998	+	Silent	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr11:123508998G>A	uc001pza.1	-	4	887	c.480C>T	c.(478-480)atC>atT	p.I160I	SCN3B_uc001pzb.1_Silent_p.I160I	NM_001040151	NP_060870	Q9NY72	SCN3B_HUMAN	Homo sapiens sodium channel, voltage-gated, type III, beta (SCN3B), transcript variant 2, mRNA.	160					axon guidance	integral to membrane|plasma membrane	voltage-gated sodium channel activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|skin(2)	26		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0227)		TGTACATCATGATTTCTGAGA	0.463000														47			33		0	0	1	0	0
LPIN2	9663	broad.mit.edu	37	18	2931394	2931394	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr18:2931394G>A	uc002klo.3	-	8	1555	c.1316C>T	c.(1315-1317)tCt>tTt	p.S439F		NM_014646	NP_055461	Q92539	LPIN2_HUMAN	Homo sapiens lipin 2 (LPIN2), mRNA.	439					fatty acid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|triglyceride biosynthetic process	cytosol|endoplasmic reticulum membrane|nucleus	phosphatidate phosphatase activity|transcription coactivator activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	29				READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156)		CTGGGAGCCAGAGAGTGTGTC	0.577000														17			18		0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	GL000192.1	222757	222757	+	RNA	SNP	A	G	G			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chrGL000192.1:222757A>G	uc010yij.1	-	17		c.3166T>C				NM_017558		Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 2, mRNA.											breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				AGTTTTAACAAAAAGAAAAAA	0.373000														12			6		0	0	1	0	0
ZNF732	654254	broad.mit.edu	37	4	265889	265889	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr4:265889C>T	uc021xka.1	-	3	757	c.757G>A	c.(757-759)Gaa>Aaa	p.E253K	ZNF732_uc011buu.1_Missense_Mutation_p.E221K	NM_001137608	NP_001131080	B4DXR9	ZN732_HUMAN	Homo sapiens zinc finger protein 732 (ZNF732), mRNA.	253					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|lung(2)	3						CCACATTCTTCATATTTGTAA	0.373000														6			8		0	0	1	0	0
MYH14	79784	broad.mit.edu	37	19	50804961	50804961	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr19:50804961C>T	uc010enu.1	+	39	5560	c.5513C>T	c.(5512-5514)tCa>tTa	p.S1838L	MYH14_uc002prq.1_Missense_Mutation_p.S1805L|MYH14_uc002prr.1_Missense_Mutation_p.S1797L|MYH14_uc010ycb.2_Missense_Mutation_p.S148L|MYH14_uc002prs.1_Missense_Mutation_p.S148L	NM_001145809	NP_001139281	Q7Z406	MYH14_HUMAN	Homo sapiens myosin, heavy chain 14, non-muscle (MYH14), transcript variant 3, mRNA.	1797					axon guidance|regulation of cell shape	myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		CGCAGTTTCTCAGCCAAGGCA	0.627000														53			44		0	0	1	0	0
SYT1	6857	broad.mit.edu	37	12	79611462	79611462	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr12:79611462C>T	uc001sys.3	+	4	834	c.163C>T	c.(163-165)Cca>Tca	p.P55S	SYT1_uc001syt.3_Missense_Mutation_p.P55S|SYT1_uc001syu.3_Missense_Mutation_p.P55S|SYT1_uc001syv.3_Missense_Mutation_p.P55S	NM_001135805	NP_005630	P21579	SYT1_HUMAN	Homo sapiens synaptotagmin I (SYT1), transcript variant 2, mRNA.	55					detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization	cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity	p.P55S(2)		NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6)	25						GCATAAAATTCCATGTGAGTA	0.373000														3			40		0	0	1	0	0
MMP1	4312	broad.mit.edu	37	11	102667484	102667484	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr11:102667484C>T	uc001phi.2	-	3	679	c.536G>A	c.(535-537)gGa>gAa	p.G179E	LOC100288077_uc001phh.1_Intron|MMP1_uc010ruv.1_Missense_Mutation_p.G113E	NM_002421	NP_001139410	P03956	MMP1_HUMAN	Homo sapiens matrix metallopeptidase 1 (interstitial collagenase) (MMP1), transcript variant 1, mRNA.	179	Metalloprotease.				blood coagulation|collagen catabolic process|interspecies interaction between organisms|leukocyte migration|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_epithelial(12;0.0127)	all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233)	OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014)		AGCAAGATTTCCTCCAGGTCC	0.438000														25			26		0	0	1	0	0
HRNR	388697	broad.mit.edu	37	1	152188460	152188460	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr1:152188460G>A	uc001ezt.1	-	2	5721	c.5645C>T	c.(5644-5646)tCt>tTt	p.S1882F		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	Homo sapiens hornerin (HRNR), mRNA.	1882					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGTGTAACCAGAGGACTGCCA	0.557000														886			86		0	0	1	0	0
SOS1	6654	broad.mit.edu	37	2	39234270	39234270	+	Silent	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr2:39234270G>A	uc002rrk.4	-	15	2616	c.2575C>T	c.(2575-2577)Cta>Tta	p.L859L	SOS1_uc002rrj.4_Silent_p.L473L	NM_005633	NP_005624	Q07889	SOS1_HUMAN	Homo sapiens son of sevenless homolog 1 (Drosophila) (SOS1), mRNA.	859	Ras-GEF.				Ras protein signal transduction|apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	cytosol	DNA binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				AAGACTTGTAGAATCTCAATA	0.348000									Noonan syndrome					66			56		0	0	1	0	0
GORASP2	26003	broad.mit.edu	37	2	171819348	171819348	+	Splice_Site	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr2:171819348G>A	uc002ugk.3	+	9	1726	c.911_splice	c.e9-1	p.G304_splice	GORASP2_uc002ugj.3_Splice_Site_p.G236_splice|GORASP2_uc010zdl.2_Splice_Site_p.G316_splice|GORASP2_uc010zdm.2_Splice_Site_p.G260_splice|GORASP2_uc002ugl.3_Splice_Site_p.G236_splice|GORASP2_uc002ugm.3_Splice_Site_p.G86_splice	NM_015530	NP_056345	Q9H8Y8	GORS2_HUMAN	Homo sapiens golgi reassembly stacking protein 2, 55kDa (GORASP2), transcript variant 1, mRNA.	304	Pro-rich.					Golgi membrane				breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	14						CTTCTCTTCAGGTCTGATGCC	0.473000														56			56		0	0	1	0	0
CHRM3	1131	broad.mit.edu	37	1	240072268	240072268	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr1:240072268C>T	uc021plc.1	+	0	1517	c.1517C>T	c.(1516-1518)cCa>cTa	p.P506L	CHRM3_uc001hyp.3_Missense_Mutation_p.P506L	NM_000740	NP_000731	P20309	ACM3_HUMAN	Homo sapiens cholinergic receptor, muscarinic 3 (CHRM3), mRNA.	506					cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)	ACTTGGACCCCATACAACATC	0.502000														94			93		0	0	1	0	0
COL4A6	1288	broad.mit.edu	37	X	107417842	107417842	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chrX:107417842C>T	uc004enw.4	-	30	3072	c.2969G>A	c.(2968-2970)gGa>gAa	p.G990E	COL4A6_uc004env.4_Missense_Mutation_p.G989E|COL4A6_uc011msn.2_Missense_Mutation_p.G989E|COL4A6_uc010npk.3_Missense_Mutation_p.G989E	NM_001847	NP_001838	Q14031	CO4A6_HUMAN	Homo sapiens collagen, type IV, alpha 6 (COL4A6), transcript variant A, mRNA.	990	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding	p.G989E(2)		breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						ACCAGCCTCTCCTTTGTCACC	0.542000									Alport syndrome with Diffuse Leiomyomatosis					2			37		0	0	1	0	0
OR2A25	392138	broad.mit.edu	37	7	143771513	143771513	+	Silent	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr7:143771513C>T	uc011ktx.2	+	0	201	c.201C>T	c.(199-201)gtC>gtT	p.V67V		NM_001004488	NP_001004488	A4D2G3	O2A25_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 25 (OR2A25), mRNA.	67					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24	Melanoma(164;0.0783)					ACCTGGCGGTCGTCGACATCG	0.577000														63			46		0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48392023	48392023	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr7:48392023G>A	uc003toq.2	+	30	10651	c.10627G>A	c.(10627-10629)Gaa>Aaa	p.E3543K	ABCA13_uc010kys.1_Missense_Mutation_p.E617K|ABCA13_uc003tos.1_Missense_Mutation_p.E369K	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	3543					transport	integral to membrane	ATP binding|ATPase activity	p.Q3543H(1)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						GACTGGGCAGGAAGCCCTGGA	0.562000														22			10		0	0	1	0	0
TMPRSS7	344805	broad.mit.edu	37	3	111794183	111794183	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr3:111794183C>T	uc010hqb.2	+	12	1591	c.1421C>T	c.(1420-1422)tCc>tTc	p.S474F	TMPRSS7_uc011bhr.1_Missense_Mutation_p.S329F	NM_001042575	NP_001036040	Q7RTY8	TMPS7_HUMAN	Homo sapiens transmembrane protease, serine 7 (TMPRSS7), transcript variant 1, mRNA.	600	CUB 2.				proteolysis	integral to membrane|plasma membrane	serine-type endopeptidase activity			breast(2)|endometrium(6)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						AGCAGGAGTTCCTCCGCCCTT	0.547000														119			113		0	0	1	0	0
CCDC33	80125	broad.mit.edu	37	15	74623549	74623549	+	Silent	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr15:74623549C>T	uc002axo.3	+	14	2077	c.1683C>T	c.(1681-1683)atC>atT	p.I561I	CCDC33_uc002axp.3_Silent_p.I383I|CCDC33_uc021sqi.1_Non-coding_Transcript|CCDC33_uc002axq.3_Silent_p.I154I|CCDC33_uc002axr.3_Silent_p.I154I	NM_025055	NP_079331	Q8N5R6	CCD33_HUMAN	Homo sapiens coiled-coil domain containing 33 (CCDC33), transcript variant 1, mRNA.	764							protein binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						TCCAGGTGATCGAGAAGATGG	0.652000														42			41		0	0	1	0	0
PLXNB1	5364	broad.mit.edu	37	3	48456265	48456265	+	Silent	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr3:48456265G>A	uc003csw.2	-	20	4422	c.4152C>T	c.(4150-4152)aaC>aaT	p.N1384N	PLXNB1_uc003cst.2_5'Flank|PLXNB1_uc003csu.2_Silent_p.N1201N|PLXNB1_uc003csx.2_Silent_p.N1384N|PLXNB1_uc010hjx.1_Non-coding_Transcript|PLXNB1_uc003csy.1_Silent_p.N92N	NM_002673	NP_002664	O43157	PLXB1_HUMAN	Homo sapiens plexin B1 (PLXNB1), transcript variant 1, mRNA.	1384					axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GGTCCTCAGGGTTGAGTGGCT	0.587000														116			105		0	0	1	0	0
EPB41L4A	64097	broad.mit.edu	37	5	111643179	111643179	+	Silent	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr5:111643179C>T	uc003kpv.1	-	1	382	c.108G>A	c.(106-108)acG>acA	p.T36T	EPB41L4A_uc003kpw.1_Silent_p.T36T	NM_022140	NP_071423	Q9HCS5	E41LA_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1 like 4A (EPB41L4A), mRNA.	36	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1)	34		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)		CGGAACCTTTCGTTGACTTCT	0.383000														23			26		0	0	1	0	0
RAG1	5896	broad.mit.edu	37	11	36597850	36597850	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr11:36597850C>T	uc021qgb.1	+	0	2996	c.2996C>T	c.(2995-2997)tCc>tTc	p.S999F	RAG1_uc001mwt.3_Intron|RAG1_uc001mwu.4_Missense_Mutation_p.S999F	NM_000448	NP_000439	P15918	RAG1_HUMAN	Homo sapiens recombination activating gene 1 (RAG1), mRNA.	999					T cell differentiation in thymus|V(D)J recombination|histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				TTGTACACCTCCAAATACCTC	0.448000									Familial Hemophagocytic Lymphohistiocytosis					63			54		0	0	1	0	0
WDFY2	115825	broad.mit.edu	37	13	52332429	52332429	+	Missense_Mutation	SNP	T	G	G			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr13:52332429T>G	uc001vfp.3	+	10	1506	c.1166T>G	c.(1165-1167)gTt>gGt	p.V389G		NM_052950	NP_443182	Q96P53	WDFY2_HUMAN	Homo sapiens WD repeat and FYVE domain containing 2 (WDFY2), mRNA.	389							metal ion binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	16		Breast(56;0.000208)|Lung NSC(96;0.000517)|Prostate(109;0.0041)|Hepatocellular(98;0.0652)|Myeloproliferative disorder(33;0.164)|all_neural(104;0.191)		GBM - Glioblastoma multiforme(99;9e-08)		ACTGACAAGGTTATTAAGGTA	0.428000														21			25		0	0	1	0	0
DAG1	1605	broad.mit.edu	37	3	49568993	49568993	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr3:49568993C>T	uc021wxz.1	+	2	1518	c.1049C>T	c.(1048-1050)cCa>cTa	p.P350L	DAG1_uc021wya.1_Missense_Mutation_p.P350L|DAG1_uc021wyb.1_Missense_Mutation_p.P350L|DAG1_uc021wyc.1_Missense_Mutation_p.P350L|DAG1_uc021wyd.1_Missense_Mutation_p.P350L|DAG1_uc021wye.1_Missense_Mutation_p.P350L|DAG1_uc021wyf.1_Missense_Mutation_p.P350L|DAG1_uc021wyg.1_Missense_Mutation_p.P350L|DAG1_uc021wyh.1_Missense_Mutation_p.P350L|DAG1_uc021wyi.1_Missense_Mutation_p.P350L|DAG1_uc021wyj.1_Missense_Mutation_p.P350L|DAG1_uc021wyk.1_Missense_Mutation_p.P350L|DAG1_uc003cxc.4_Missense_Mutation_p.P350L	NM_001177643	NP_001171114	Q14118	DAG1_HUMAN	Homo sapiens dystroglycan 1 (dystrophin-associated glycoprotein 1) (DAG1), transcript variant 12, mRNA.	350	Mucin-like domain.|Required for laminin recognition.|Thr-rich.				cytoskeletal anchoring at plasma membrane|interspecies interaction between organisms|microtubule anchoring|negative regulation of MAPKKK cascade|negative regulation of cell migration|negative regulation of protein kinase B signaling cascade	basement membrane|contractile ring|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|extracellular space|filopodium|integral to membrane|integral to membrane of membrane fraction|lamellipodium|nucleoplasm	actin binding|alpha-actinin binding|calcium ion binding|laminin-1 binding|receptor activity|structural constituent of muscle|tubulin binding|vinculin binding			NS(1)|autonomic_ganglia(2)|breast(2)|endometrium(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		ATTGCTCCTCCAACAGAGACC	0.607000														154			99		0	0	1	0	0
ZNF19	7567	broad.mit.edu	37	16	71509888	71509888	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr16:71509888G>A	uc010cgc.1	-	5	1068	c.562C>T	c.(562-564)Cct>Tct	p.P188S	ZNF23_uc002fai.3_Intron|ZNF19_uc002fak.1_Missense_Mutation_p.P176S|ZNF19_uc002fal.1_Missense_Mutation_p.P176S|ZNF19_uc002fam.1_Missense_Mutation_p.P188S	NM_006961	NP_008892	P17023	ZNF19_HUMAN	Homo sapiens zinc finger protein 19 (ZNF19), mRNA.	188						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|prostate(1)|stomach(1)	22		Ovarian(137;0.00965)		BRCA - Breast invasive adenocarcinoma(221;0.0161)|Kidney(780;0.0598)		CACTCAAAAGGTTTCTCCCCA	0.453000														35			27		0	0	1	0	0
TTLL13	440307	broad.mit.edu	37	15	90794092	90794093	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr15:90794092_90794093GG>AA	uc002bpd.1	+	1	518_519	c.230_231GG>AA	c.(229-231)ggg>gAA	p.G77E	TTLL13_uc002bpe.1_Non-coding_Transcript	NM_001029964	NP_001025135	A6NNM8	TTL13_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 13 (TTLL13), mRNA.	77					protein modification process		ATP binding|tubulin-tyrosine ligase activity			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)	16	Melanoma(11;0.00551)|Lung NSC(78;0.0178)|all_lung(78;0.0378)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|BRCA - Breast invasive adenocarcinoma(143;0.0323)|Kidney(142;0.0514)			TTAGAAGCTGGGAGGAGGAAGA	0.510000														119			96		0	0	1	0	0
EGR2	1959	broad.mit.edu	37	10	64573723	64573723	+	Silent	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr10:64573723G>A	uc010qio.2	-	2	734	c.714C>T	c.(712-714)gaC>gaT	p.D238D	EGR2_uc010qim.2_Silent_p.D225D|EGR2_uc010qin.2_Silent_p.D175D|EGR2_uc001jmi.3_Silent_p.D225D|EGR2_uc009xph.3_Silent_p.D225D	NM_001136179	NP_001129651	P11161	EGR2_HUMAN	Homo sapiens early growth response 2 (EGR2), transcript variant 4, mRNA.	225					fat cell differentiation|protein export from nucleus|transcription from RNA polymerase II promoter	cytoplasm|nucleus	RNA polymerase II activating transcription factor binding|chromatin binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	36	Prostate(12;0.0297)|all_hematologic(501;0.228)					ATCCAGGATAGTCTGGGATCA	0.602000														90			90		0	0	1	0	0
SLC1A4	6509	broad.mit.edu	37	2	65245773	65245773	+	Missense_Mutation	SNP	A	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr2:65245773A>T	uc010yqa.2	+	6	1607	c.1324A>T	c.(1324-1326)Act>Tct	p.T442S	SLC1A4_uc010ypz.2_Missense_Mutation_p.T144S|SLC1A4_uc002sdh.3_Missense_Mutation_p.T222S	NM_003038	NP_003029	P43007	SATT_HUMAN	Homo sapiens solute carrier family 1 (glutamate/neutral amino acid transporter), member 4 (SLC1A4), transcript variant 1, mRNA.	442					cellular nitrogen compound metabolic process|cognition|synaptic transmission, glutamatergic	intermediate filament|melanosome	L-alanine transmembrane transporter activity|L-cystine transmembrane transporter activity|L-hydroxyproline transmembrane transporter activity|L-proline transmembrane transporter activity|L-serine transmembrane transporter activity|L-threonine transmembrane transporter activity|chloride channel activity|sodium:dicarboxylate symporter activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|urinary_tract(1)	13					L-Alanine(DB00160)	TGGGCTGCCTACTCATGACCT	0.547000														70			58		0	0	1	0	0
A2M	2	broad.mit.edu	37	12	9265097	9265097	+	Silent	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr12:9265097G>A	uc001qvk.1	-	2	419	c.306C>T	c.(304-306)ttC>ttT	p.F102F	A2M_uc009zgk.1_Intron	NM_000014	NP_000005	P01023	A2MG_HUMAN	Homo sapiens alpha-2-macroglobulin (A2M), mRNA.	102					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	GTPase activator activity|enzyme binding|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)	GGACAGTGAGGAACATTACCT	0.483000														17			19		0	0	1	0	0
KCNB1	3745	broad.mit.edu	37	20	48098603	48098603	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr20:48098603G>A	uc002xur.1	-	0	581	c.415C>T	c.(415-417)Cag>Tag	p.Q139*	KCNB1_uc002xus.1_Nonsense_Mutation_p.Q139*	NM_004975	NP_004966	Q14721	KCNB1_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 1 (KCNB1), mRNA.	139					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			TCTTTCTTCTGGTGGTAGCGG	0.597000														101			71		0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152287136	152287136	+	Silent	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr1:152287136G>A	uc001ezu.1	-	2	262	c.226C>T	c.(226-228)Ctg>Ttg	p.L76L	AK056431_uc001ezv.3_Non-coding_Transcript	NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	76	EF-hand 2.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AATACCATCAGAAGAAACTCA	0.393000									Ichthyosis					63			26		0	0	1	0	0
ERN2	10595	broad.mit.edu	37	16	23706524	23706524	+	Silent	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr16:23706524C>T	uc002dma.4	-	14	2110	c.1941G>A	c.(1939-1941)caG>caA	p.Q647Q	ERN2_uc010bxp.3_Silent_p.Q595Q	NM_033266	NP_150296	Q76MJ5	ERN2_HUMAN	Homo sapiens endoplasmic reticulum to nucleus signaling 2 (ERN2), mRNA.	599	Protein kinase.				apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		AACTCACCTCCTGCAAGGAGG	0.617000														60			43		0	0	1	0	0
CYFIP2	26999	broad.mit.edu	37	5	156786157	156786157	+	Splice_Site	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr5:156786157G>A	uc021ygm.1	+	24	2952	c.2814_splice	c.e24+1	p.L938_splice	CYFIP2_uc011ddn.2_Splice_Site_p.L913_splice|CYFIP2_uc011ddo.2_Splice_Site_p.L743_splice|CYFIP2_uc021ygn.1_Splice_Site_p.L938_splice|CYFIP2_uc021ygo.1_Splice_Site_p.L938_splice|CYFIP2_uc003lwt.3_Splice_Site_p.L842_splice|CYFIP2_uc011ddp.2_Splice_Site_p.L673_splice	NM_001037333	NP_001032410	Q96F07	CYFP2_HUMAN	Homo sapiens cytoplasmic FMR1 interacting protein 2 (CYFIP2), transcript variant 1, mRNA.	964					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding			breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GAAGAGCTTGGTAAGGAAAGG	0.458000														6			56		0	0	1	0	0
PRDM4	11108	broad.mit.edu	37	12	108150664	108150664	+	Silent	SNP	T	G	G			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr12:108150664T>G	uc001tmp.3	-	2	527	c.90A>C	c.(88-90)tcA>tcC	p.S30S	PRDM4_uc001tmq.3_Non-coding_Transcript	NM_012406	NP_036538	Q9UKN5	PRDM4_HUMAN	Homo sapiens PR domain containing 4 (PRDM4), mRNA.	30					cell proliferation|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|skin(2)|urinary_tract(1)	20						GGTGACTTCCTGAGACTGGCA	0.517000														28			14		0	0	1	0	0
FAM193A	8603	broad.mit.edu	37	4	2696694	2696694	+	Silent	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr4:2696694C>T	uc010ick.3	+	15	2842	c.2841C>T	c.(2839-2841)caC>caT	p.H947H	FAM193A_uc003gfd.3_Silent_p.H747H|FAM193A_uc011bvm.2_Silent_p.H769H|FAM193A_uc011bvn.2_Silent_p.H747H|FAM193A_uc010icl.3_Silent_p.H747H|FAM193A_uc011bvo.2_Non-coding_Transcript|FAM193A_uc010icm.3_Non-coding_Transcript|FAM193A_uc003gfe.2_Silent_p.H601H	NM_003704	NP_003695	P78312	F193A_HUMAN	Homo sapiens family with sequence similarity 193, member A (FAM193A), mRNA.	747										NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						GCGAAGGGCACCGCTGCGAGA	0.587000														20			22		0	0	1	0	0
GPR125	166647	broad.mit.edu	37	4	22456510	22456511	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr4:22456510_22456511CC>TT	uc003gqm.1	-	3	716_717	c.451_452GG>AA	c.(451-453)gga>AAa	p.G151K	GPR125_uc010ieo.1_Missense_Mutation_p.G25K|GPR125_uc003gqo.3_Missense_Mutation_p.G151K	NM_145290	NP_660333	Q8IWK6	GP125_HUMAN	Homo sapiens G protein-coupled receptor 125 (GPR125), mRNA.	151					neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				ATTGGTGAGTCCTCGAAATATG	0.366000														48			33		0	0	1	0	0
NAP1L4	4676	broad.mit.edu	37	11	2981038	2981038	+	Silent	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr11:2981038G>A	uc010qxm.2	-	9	992	c.708C>T	c.(706-708)ccC>ccT	p.P236P	NAP1L4_uc001lxc.3_Silent_p.P236P|NAP1L4_uc010qxn.2_Silent_p.P236P	NM_005969	NP_005960	Q99733	NP1L4_HUMAN	Homo sapiens nucleosome assembly protein 1-like 4 (NAP1L4), mRNA.	236					nucleosome assembly	chromatin assembly complex|cytoplasm	unfolded protein binding	p.D235Y(1)		endometrium(2)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)	13		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00301)|LUSC - Lung squamous cell carcinoma(625;0.211)		CAAAGGAAAAGGGATCAGCCT	0.373000														36			21		0	0	1	0	0
SYT10	341359	broad.mit.edu	37	12	33559744	33559744	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr12:33559744C>T	uc001rll.1	-	2	1354	c.1057G>A	c.(1057-1059)Gat>Aat	p.D353N	SYT10_uc009zju.1_Missense_Mutation_p.D163N	NM_198992	NP_945343	Q6XYQ8	SYT10_HUMAN	Homo sapiens synaptotagmin X (SYT10), mRNA.	353						cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					CAGTGAATATCTTTCCATACT	0.343000														26			24		0	0	1	0	0
ANGPT1	284	broad.mit.edu	37	8	108296969	108296969	+	Silent	SNP	C	T	T	rs150101500	byFrequency	TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr8:108296969C>T	uc003ymn.3	-	6	1614	c.1146G>A	c.(1144-1146)ggG>ggA	p.G382G	ANGPT1_uc011lhv.2_Silent_p.G182G|ANGPT1_uc003ymo.3_Silent_p.G381G|ANGPT1_uc003ymp.4_Silent_p.G181G	NM_001146	NP_001137	Q15389	ANGP1_HUMAN	Homo sapiens angiopoietin 1 (ANGPT1), transcript variant 1, mRNA.	382	Fibrinogen C-terminal.				Tie receptor signaling pathway|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of ERK1 and ERK2 cascade|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis	extracellular space|membrane raft|microvillus|plasma membrane	receptor tyrosine kinase binding			NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	43	Breast(1;5.06e-08)		OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)			AGGCTCGGTTCCCTTCCCAGT	0.418000														45			35		0	0	1	0	0
TFEB	7942	broad.mit.edu	37	6	41652554	41652554	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr6:41652554C>T	uc021yzl.1	-	7	1416	c.1415G>A	c.(1414-1416)aGg>aAg	p.R472K	TFEB_uc003oqs.1_Missense_Mutation_p.R405K|TFEB_uc003oqt.1_Missense_Mutation_p.R405K|TFEB_uc003oqu.1_Missense_Mutation_p.R405K|TFEB_uc003oqr.1_Missense_Mutation_p.R320K	NM_007162	NP_009093	P19484	TFEB_HUMAN	Homo sapiens transcription factor EB (TFEB), transcript variant 1, mRNA.	405				EPLAPGHGSPFPSLSKKDLDLMLLDDSLLPLASDPLLSTMS PEASKASSRRSSFSMEEGDVL -> DRN (in Ref. 1).	embryonic placenta development|humoral immune response|positive regulation of transcription from RNA polymerase II promoter	cytoplasm	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	11	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;7.61e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)			CTCGTCCTCCCTGCCCCCAAA	0.687000			T	ALPHA	renal (childhood epithelioid)									53			53		0	0	1	0	0
EMR1	2015	broad.mit.edu	37	19	6937404	6937404	+	Silent	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr19:6937404C>T	uc002mfw.3	+	18	2570	c.2532C>T	c.(2530-2532)caC>caT	p.H844H	EMR1_uc010dvc.3_Silent_p.H779H|EMR1_uc010dvb.3_Silent_p.H825H|EMR1_uc010xji.2_Silent_p.H703H|EMR1_uc010xjj.2_Silent_p.H667H	NM_001974	NP_001965	Q14246	EMR1_HUMAN	Homo sapiens egf-like module containing, mucin-like, hormone receptor-like 1 (EMR1), transcript variant 1, mRNA.	844					cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					TCCTCATCCACTGTCTGCTCA	0.607000														75			64		0	0	1	0	0
KIAA1217	56243	broad.mit.edu	37	10	24832931	24832931	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr10:24832931C>T	uc001iru.4	+	18	5135	c.4732C>T	c.(4732-4734)Cct>Tct	p.P1578S	KIAA1217_uc001irs.3_Intron|KIAA1217_uc001irt.4_Intron|KIAA1217_uc010qcy.2_Intron|KIAA1217_uc010qcz.2_Intron|KIAA1217_uc001irw.3_Intron|KIAA1217_uc001irz.3_Intron|KIAA1217_uc001irx.3_Missense_Mutation_p.P1261S|KIAA1217_uc001iry.3_Intron|KIAA1217_uc001isa.1_Missense_Mutation_p.P414S	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA.	1578					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						ATTCAAATTCCCTAAGAAGCA	0.468000														126			109		0	0	1	0	0
CDH20	28316	broad.mit.edu	37	18	59212317	59212317	+	Missense_Mutation	SNP	T	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr18:59212317T>A	uc010dps.1	+	8	1740	c.1588T>A	c.(1588-1590)Tac>Aac	p.Y530N	CDH20_uc002lif.2_Missense_Mutation_p.Y524N	NM_031891	NP_114097	Q9HBT6	CAD20_HUMAN	Homo sapiens cadherin 20, type 2 (CDH20), mRNA.	530	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				TCAGCATTTCTACTACAGCTT	0.502000														57			35		0	0	1	0	0
PENK	5179	broad.mit.edu	37	8	57353920	57353920	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr8:57353920C>T	uc003xsz.2	-	1	796	c.715G>A	c.(715-717)Gag>Aag	p.E239K	PENK_uc003xta.3_Missense_Mutation_p.E239K	NM_006211	NP_006202	P01210	PENK_HUMAN	Homo sapiens proenkephalin (PENK), transcript variant 2, mRNA.	239					neuropeptide signaling pathway	extracellular region	neuropeptide hormone activity|opioid peptide activity			central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	21		all_lung(136;0.229)	Epithelial(17;0.000873)|all cancers(17;0.0069)			GGCAGAGCCTCGGCAAAGCGC	0.483000														95			86		0	0	1	0	0
PTPN11	5781	broad.mit.edu	37	12	112926910	112926910	+	Missense_Mutation	SNP	G	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr12:112926910G>T	uc001ttx.3	+	12	1910	c.1530G>T	c.(1528-1530)caG>caT	p.Q510H		NM_002834	NP_002825	Q06124	PTN11_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 11 (PTPN11), mRNA.	514	Tyrosine-protein phosphatase.		Q -> P (in LEOPARD1).|Q -> R (in NS1).		T cell costimulation|axon guidance|cell junction assembly|ephrin receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|platelet activation|regulation of cell adhesion mediated by integrin|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytosol	non-membrane spanning protein tyrosine phosphatase activity|protein binding	p.Q510K(2)|p.Q510H(1)|p.Q510L(1)		NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3)	451						CAGAAGCACAGTACCGATTTA	0.493000			Mis		"""JMML, AML, MDS"""		Noonan Syndrome		Noonan syndrome					13			297		6.61739e-134	6.7662e-134	1	1	0
SALL4	57167	broad.mit.edu	37	20	50408716	50408716	+	Silent	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr20:50408716G>A	uc002xwh.4	-	1	407	c.306C>T	c.(304-306)atC>atT	p.I102I	SALL4_uc010gii.3_Silent_p.I102I|SALL4_uc002xwi.4_Intron	NM_020436	NP_065169	Q9UJQ4	SALL4_HUMAN	Homo sapiens sal-like 4 (Drosophila) (SALL4), mRNA.	102					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.L101L(1)		endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TGTCATTCATGATGAGGACAG	0.522000														85			99		0	0	1	0	0
CD33	945	broad.mit.edu	37	19	51728627	51728627	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr19:51728627G>A	uc002pwa.2	+	1	231	c.191G>A	c.(190-192)gGa>gAa	p.G64E	CD33_uc010eos.1_Missense_Mutation_p.G64E|CD33_uc010eot.1_Intron|CD33_uc010eou.1_5'Flank	NM_001772	NP_001763	P20138	CD33_HUMAN	Homo sapiens CD33 molecule (CD33), transcript variant 1, mRNA.	64	Ig-like V-type.				cell adhesion|cell-cell signaling|negative regulation of cell proliferation	external side of plasma membrane|integral to plasma membrane	receptor activity|sugar binding	p.E63K(1)		NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1)	24		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	Gemtuzumab ozogamicin(DB00056)	TTCCGGGAAGGAGCCATTATA	0.537000														90			86		0	0	1	0	0
ZNF608	57507	broad.mit.edu	37	5	123979242	123979243	+	Nonsense_Mutation	DNP	GG	AA	AA			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr5:123979242_123979243GG>AA	uc003ktq.1	-	5	4440_4441	c.4257_4258CC>TT	c.(4255-4260)ctccag>ctTTag	p.Q1420*	ZNF608_uc003ktr.1_Non-coding_Transcript|ZNF608_uc003ktp.1_Nonsense_Mutation_p.Q115*	NM_020747	NP_065798	Q9ULD9	ZN608_HUMAN	Homo sapiens zinc finger protein 608 (ZNF608), mRNA.	1420						intracellular	zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		GCATGCTGCTGGAGCAAATCCA	0.446000														1			30		0	0	1	0	0
NALCN	259232	broad.mit.edu	37	13	101890181	101890181	+	Silent	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr13:101890181G>A	uc001vox.1	-	11	1548	c.1359C>T	c.(1357-1359)ttC>ttT	p.F453F	NALCN_uc001voy.3_Silent_p.F168F|NALCN_uc001voz.2_Silent_p.F453F|NALCN_uc001vpa.2_Silent_p.F453F	NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	Homo sapiens sodium leak channel, non-selective (NALCN), mRNA.	453						integral to membrane	sodium channel activity|voltage-gated ion channel activity	p.F453F(2)		NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GTAGTAGTTCGAATTTGTGGA	0.348000														70			60		0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216074106	216074106	+	Missense_Mutation	SNP	C	T	T	rs140341466		TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr1:216074106C>T	uc001hku.1	-	38	7829	c.7442G>A	c.(7441-7443)gGa>gAa	p.G2481E		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	2481	Fibronectin type-III 11.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.G2481*(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CTCTAGAAATCCATGGGTGGA	0.443000										HNSCC(13;0.011)				60			64		0	0	1	0	0
MCTP2	55784	broad.mit.edu	37	15	94899508	94899508	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr15:94899508G>A	uc002btj.3	+	7	1213	c.1148G>A	c.(1147-1149)gGa>gAa	p.G383E	MCTP2_uc010urg.1_Missense_Mutation_p.G383E|MCTP2_uc002bti.2_Missense_Mutation_p.G383E|MCTP2_uc010boj.3_Missense_Mutation_p.G112E|MCTP2_uc010bok.3_Missense_Mutation_p.G383E|MCTP2_uc002btk.4_5'UTR|MCTP2_uc002btl.3_5'UTR	NM_018349	NP_060819	Q6DN12	MCTP2_HUMAN	Homo sapiens multiple C2 domains, transmembrane 2 (MCTP2), transcript variant 1, mRNA.	383	C2 2.				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			TTAAAACTGGGAGATCAGAGG	0.333000														31			32		0	0	1	0	0
TMEM200A	114801	broad.mit.edu	37	6	130762664	130762664	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr6:130762664G>A	uc003qcb.3	+	1	3475	c.1097G>A	c.(1096-1098)gGa>gAa	p.G366E	TMEM200A_uc003qca.3_Missense_Mutation_p.G366E|TMEM200A_uc010kfh.3_Missense_Mutation_p.G366E|TMEM200A_uc010kfi.3_Missense_Mutation_p.G366E|TMEM200A_uc021zfg.1_Missense_Mutation_p.G366E	NM_052913	NP_443145	Q86VY9	T200A_HUMAN	Homo sapiens transmembrane protein 200A (TMEM200A), mRNA.	366						integral to membrane				NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		ATGGCTCTCGGACCTGGGGCT	0.522000														49			45		0	0	1	0	0
COL1A1	1277	broad.mit.edu	37	17	48266759	48266759	+	Silent	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr17:48266759G>A	uc002iqm.3	-	38	2934	c.2808C>T	c.(2806-2808)tcC>tcT	p.S936S		NM_000088	NP_000079	P02452	CO1A1_HUMAN	Homo sapiens collagen, type I, alpha 1 (COL1A1), mRNA.	936	Triple-helical region.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	CAGCACCAGGGGATCCTTTCT	0.642000			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta							72			72		0	0	1	0	0
PLIN4	729359	broad.mit.edu	37	19	4512428	4512428	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr19:4512428C>T	uc002mar.1	-	2	1502	c.1502G>A	c.(1501-1503)gGg>gAg	p.G501E	PLIN4_uc010dub.1_5'Flank	NM_001080400	NP_001073869	Q96Q06	PLIN4_HUMAN	Homo sapiens perilipin 4 (PLIN4), mRNA.	501	27 X 33 AA approximate tandem repeat.					lipid particle|plasma membrane				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						CTGGACGGTCCCTTTGGCCAC	0.617000														136			131		0	0	1	0	0
NPFFR2	10886	broad.mit.edu	37	4	73013133	73013133	+	Silent	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr4:73013133C>T	uc003hgg.2	+	3	1271	c.1173C>T	c.(1171-1173)ccC>ccT	p.P391P	NPFFR2_uc010iig.2_Silent_p.P173P|NPFFR2_uc003hgi.2_Silent_p.P292P|NPFFR2_uc003hgh.2_Silent_p.P289P	NM_004885	NP_444264	Q9Y5X5	NPFF2_HUMAN	Homo sapiens neuropeptide FF receptor 2 (NPFFR2), transcript variant 1, mRNA.	391					detection of abiotic stimulus	actin cytoskeleton|integral to plasma membrane	neuropeptide receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)			CATGGCTGCCCCTGTGGACTC	0.488000														58			55		0	0	1	0	0
DENND2A	27147	broad.mit.edu	37	7	140301989	140301990	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr7:140301989_140301990CC>TT	uc010lnk.3	-	2	728_729	c.208_209GG>AA	c.(208-210)gga>AAa	p.G70K	DENND2A_uc011kre.2_Non-coding_Transcript|DENND2A_uc010lnj.3_Missense_Mutation_p.G70K|DENND2A_uc003vvw.3_Missense_Mutation_p.G70K|DENND2A_uc003vvx.3_Missense_Mutation_p.G70K	NM_015689	NP_056504	Q9ULE3	DEN2A_HUMAN	Homo sapiens DENN/MADD domain containing 2A (DENND2A), mRNA.	70								p.G70R(2)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					ATCCTCCTGTCCGTCTGCTCTC	0.545000														98			106		0	0	1	0	0
AKAP6	9472	broad.mit.edu	37	14	33014437	33014437	+	Splice_Site	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr14:33014437G>A	uc001wrq.3	+	4	747	c.577_splice	c.e4-1	p.G193_splice	AKAP6_uc010aml.3_Splice_Site_p.G190_splice	NM_004274	NP_004265	Q13023	AKAP6_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 6 (AKAP6), mRNA.	193					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		CTGTTTCAGGGCCGGCTTGAT	0.393000														49			34		0	0	1	0	0
PTPRD	5789	broad.mit.edu	37	9	8485926	8485926	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr9:8485926G>A	uc003zkk.3	-	27	3634	c.2891C>T	c.(2890-2892)cCc>cTc	p.P964L	PTPRD_uc003zkp.3_Intron|PTPRD_uc003zkq.3_Intron|PTPRD_uc003zkr.3_Intron|PTPRD_uc003zks.3_Intron|PTPRD_uc022bdj.1_Intron	NM_002839	NP_002830	P23468	PTPRD_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA.	964	Fibronectin type-III 7.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		CGGGAGAAGGGGGATGTTGAT	0.458000										TSP Lung(15;0.13)				8			62		0	0	1	0	0
DENND2A	27147	broad.mit.edu	37	7	140221877	140221877	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr7:140221877C>T	uc010lnk.3	-	17	3209	c.2689G>A	c.(2689-2691)Gag>Aag	p.E897K	DENND2A_uc011kre.2_Non-coding_Transcript|DENND2A_uc010lnj.3_Missense_Mutation_p.E897K|DENND2A_uc003vvw.3_Missense_Mutation_p.E897K	NM_015689	NP_056504	Q9ULE3	DEN2A_HUMAN	Homo sapiens DENN/MADD domain containing 2A (DENND2A), mRNA.	897	dDENN.									breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					GACACCACCTCGTTCAAGGGG	0.587000														41			35		0	0	1	0	0
ZSWIM2	151112	broad.mit.edu	37	2	187712480	187712480	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr2:187712480G>A	uc002upu.1	-	1	248	c.208C>T	c.(208-210)Ccg>Tcg	p.P70S		NM_182521	NP_872327	Q8NEG5	ZSWM2_HUMAN	Homo sapiens zinc finger, SWIM-type containing 2 (ZSWIM2), mRNA.	70					apoptosis		zinc ion binding	p.P70Q(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			CCTCCTTTCGGAAATGTGGAA	0.348000														24			24		0	0	1	0	0
NUDT7	283927	broad.mit.edu	37	16	77759444	77759444	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr16:77759444G>A	uc010chd.3	+	1	243	c.152G>A	c.(151-153)gGa>gAa	p.G51E	NUDT7_uc002fff.3_Missense_Mutation_p.G51E|NUDT7_uc021tlp.1_Missense_Mutation_p.G51E|NUDT7_uc021tlq.1_Missense_Mutation_p.G51E|NUDT7_uc010vnj.2_Missense_Mutation_p.G51E	NM_001105663	NP_001099133	P0C024	NUDT7_HUMAN	Homo sapiens nudix (nucleoside diphosphate linked moiety X)-type motif 7 (NUDT7), transcript variant 1, mRNA.	51	Nudix hydrolase.				nucleoside diphosphate metabolic process	peroxisome	hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides|magnesium ion binding|manganese ion binding			breast(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|skin(1)	18						GCTAAAGAAGGAAAACTCCAT	0.428000														20			22		0	0	1	0	0
WNT9B	7484	broad.mit.edu	37	17	44954055	44954055	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr17:44954055G>A	uc002ikw.1	+	3	1082	c.1045G>A	c.(1045-1047)Gag>Aag	p.E349K	WNT9B_uc002ikx.1_Intron	NM_003396	NP_003387	O14905	WNT9B_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 9B (WNT9B), mRNA.	349					Wnt receptor signaling pathway, calcium modulating pathway|Wnt receptor signaling pathway, planar cell polarity pathway|anterior/posterior pattern formation|axis specification|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|collecting duct development|cornea development in camera-type eye|endoderm development|establishment of planar polarity involved in nephron morphogenesis|kidney rudiment formation|male genitalia development|mesonephric duct formation|metanephric tubule development|neuron differentiation|palate development|regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|uterus morphogenesis	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|extracellular matrix structural constituent			large_intestine(2)|lung(8)	10			BRCA - Breast invasive adenocarcinoma(9;0.0257)			ATGTGTGCAGGAGGAGCTTGT	0.647000														41			24		0	0	1	0	0
CCDC96	257236	broad.mit.edu	37	4	7044548	7044548	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr4:7044548G>A	uc003gjv.2	-	0	181	c.118C>T	c.(118-120)Ccc>Tcc	p.P40S	LOC100129931_uc021xld.1_Intron|TADA2B_uc003gjw.4_5'Flank|TADA2B_uc010idi.3_5'Flank	NM_153376	NP_699207	Q2M329	CCD96_HUMAN	Homo sapiens coiled-coil domain containing 96 (CCDC96), mRNA.	40	Glu-rich.									endometrium(3)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|urinary_tract(1)	11						AGCTCCCCGGGTTCGGGAGAG	0.721000														9			6		0	0	1	0	0
C10orf71	118461	broad.mit.edu	37	10	50531479	50531480	+	Missense_Mutation	DNP	GT	AA	AA			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr10:50531479_50531480GT>AA	uc021pqb.1	+	0	889_890	c.889_890GT>AA	c.(889-891)gtc>AAc	p.V297N	C10orf71_uc021pqa.1_Missense_Mutation_p.V296N|C10orf71_uc021pqc.1_Missense_Mutation_p.V297N	NM_001135196	NP_001128668	Q711Q0	CJ071_HUMAN	Homo sapiens chromosome 10 open reading frame 71 (C10orf71), transcript variant 1, mRNA.	297										endometrium(1)	1						AGCTGGAACCGTCCCAGAAAGC	0.545000														47			27		0	0	1	0	0
OR9Q2	219957	broad.mit.edu	37	11	57958364	57958364	+	Silent	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr11:57958364C>T	uc010rka.2	+	0	459	c.402C>T	c.(400-402)acC>acT	p.T134T		NM_001005283	NP_001005283	Q8NGE9	OR9Q2_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily Q, member 2 (OR9Q2), mRNA.	134					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(24)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41		Breast(21;0.0589)				TTTATGTCACCATCATAACCG	0.552000														84			93		0	0	1	0	0
MECOM	2122	broad.mit.edu	37	3	168833453	168833453	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr3:168833453C>T	uc011bpj.1	-	7	2610	c.2207G>A	c.(2206-2208)gGc>gAc	p.G736D	MECOM_uc010hwk.1_Missense_Mutation_p.G571D|MECOM_uc003ffj.3_Missense_Mutation_p.G613D|MECOM_uc003ffi.3_Missense_Mutation_p.G548D|MECOM_uc011bpi.1_Missense_Mutation_p.G549D|MECOM_uc003ffn.3_Missense_Mutation_p.G548D|MECOM_uc003ffk.2_Missense_Mutation_p.G548D|MECOM_uc003ffl.2_Missense_Mutation_p.G708D|MECOM_uc011bpk.1_Missense_Mutation_p.G548D|MECOM_uc010hwn.2_Missense_Mutation_p.G736D	NM_004991	NP_004982	Q13465	MDS1_HUMAN	Homo sapiens MDS1 and EVI1 complex locus (MECOM), transcript variant 4, mRNA.	58							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						CTCAGAGCTGCCCTTCTGCAG	0.488000														72			63		0	0	1	0	0
KIAA1324L	222223	broad.mit.edu	37	7	86539146	86539146	+	Silent	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr7:86539146G>A	uc011kha.2	-	15	2526	c.2341C>T	c.(2341-2343)Ctg>Ttg	p.L781L	KIAA1324L_uc003uie.3_Silent_p.L614L|KIAA1324L_uc011kgz.2_Silent_p.L667L|KIAA1324L_uc003uif.2_Silent_p.L533L	NM_001142749	NP_001136221	A8MWY0	K132L_HUMAN	Homo sapiens KIAA1324-like (KIAA1324L), transcript variant 1, mRNA.	781						integral to membrane				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					GTATCTGCCAGAATGATGGAT	0.353000														62			49		0	0	1	0	0
OR6C2	341416	broad.mit.edu	37	12	55846582	55846582	+	Silent	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr12:55846582G>A	uc001sgz.1	+	0	585	c.585G>A	c.(583-585)caG>caA	p.Q195Q		NM_054105	NP_473446	Q9NZP2	OR6C2_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 2 (OR6C2), mRNA.	195					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(5)|lung(8)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	23						TAATAGAACAGATGGTTATAC	0.408000														77			75		0	0	1	0	0
C1orf168	199920	broad.mit.edu	37	1	57202788	57202788	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr1:57202788C>T	uc001cym.4	-	14	2171	c.1765G>A	c.(1765-1767)Gat>Aat	p.D589N	C1orf168_uc009vzu.1_Non-coding_Transcript|C1orf168_uc001cyl.3_Non-coding_Transcript	NM_001004303	NP_001004303	Q5VWT5	CA168_HUMAN	Homo sapiens chromosome 1 open reading frame 168 (C1orf168), mRNA.	589										NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						AGGTCTACATCATCATAAATA	0.333000														15			13		0	0	1	0	0
C16orf78	123970	broad.mit.edu	37	16	49412388	49412388	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr16:49412388G>A	uc002efr.3	+	2	321	c.278G>A	c.(277-279)gGa>gAa	p.G93E		NM_144602	NP_653203	Q8WTQ4	CP078_HUMAN	Homo sapiens chromosome 16 open reading frame 78 (C16orf78), mRNA.	93										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(1)	22						AAGGCCTTAGGAAAGAGATTC	0.557000														9			11		0	0	1	0	0
TRUB1	142940	broad.mit.edu	37	10	116698242	116698242	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr10:116698242C>T	uc001lcd.3	+	0	291	c.230C>T	c.(229-231)cCc>cTc	p.P77L	TRUB1_uc010qsl.2_Intron	NM_139169	NP_631908	Q8WWH5	TRUB1_HUMAN	Homo sapiens TruB pseudouridine (psi) synthase homolog 1 (E. coli) (TRUB1), mRNA.	77					pseudouridine synthesis|tRNA processing		RNA binding|pseudouridine synthase activity			breast(2)|kidney(2)|large_intestine(1)|lung(5)|urinary_tract(2)	12		Colorectal(252;0.09)|Breast(234;0.174)|Lung NSC(174;0.245)		Epithelial(162;0.00879)|all cancers(201;0.0243)		GTGCACAAGCCCAAAGGGCCC	0.662000														8			8		0	0	1	0	0
DYSF	8291	broad.mit.edu	37	2	71753454	71753455	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr2:71753454_71753455CC>TT	uc010fen.3	+	12	1395_1396	c.1254_1255CC>TT	c.(1252-1257)ttccgg>ttTTgg	p.R419W	DYSF_uc010fei.3_Missense_Mutation_p.R418W|DYSF_uc010feh.3_Missense_Mutation_p.R387W|DYSF_uc002sig.4_Missense_Mutation_p.R387W|DYSF_uc010yqx.2_Non-coding_Transcript|DYSF_uc010feg.3_Missense_Mutation_p.R418W|DYSF_uc010fee.3_Missense_Mutation_p.R387W|DYSF_uc010fef.3_Missense_Mutation_p.R418W|DYSF_uc002sie.3_Missense_Mutation_p.R387W|DYSF_uc010feo.3_Missense_Mutation_p.R419W|DYSF_uc010fej.3_Missense_Mutation_p.R388W|DYSF_uc010fel.3_Missense_Mutation_p.R388W|DYSF_uc010fem.3_Missense_Mutation_p.R388W|DYSF_uc002sif.3_Missense_Mutation_p.R388W|DYSF_uc010fek.3_Missense_Mutation_p.R419W	NM_001130987	NP_001124459	O75923	DYSF_HUMAN	Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA.	387	C2 3.					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						TGAAGGTCTTCCGGGCCGAGGA	0.668000														156			104		0	0	1	0	0
SLC9A5	6553	broad.mit.edu	37	16	67304817	67304817	+	Nonsense_Mutation	SNP	G	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr16:67304817G>T	uc002esm.3	+	15	2458	c.2395G>T	c.(2395-2397)Gag>Tag	p.E799*	SLC9A5_uc010cee.3_Nonsense_Mutation_p.E504*|SLC9A5_uc010vji.2_Nonsense_Mutation_p.E303*	NM_004594	NP_004585	Q14940	SL9A5_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 5 (SLC9A5), mRNA.	799					regulation of pH	integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		CTCATCCCTGGAGAGCCTAGC	0.622000														98			82		1.17954e-47	1.20447e-47	1	1	0
HEPHL1	341208	broad.mit.edu	37	11	93834405	93834405	+	Missense_Mutation	SNP	T	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr11:93834405T>A	uc001pep.2	+	13	2636	c.2479T>A	c.(2479-2481)Ttt>Att	p.F827I	AF086184_uc001pen.1_Intron	NM_001098672	NP_001092142	Q6MZM0	HPHL1_HUMAN	Homo sapiens hephaestin-like 1 (HEPHL1), mRNA.	827	Plastocyanin-like 5.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				CCTGATCATATTTAAGAACAA	0.463000														72			65		0	0	1	0	0
NEK5	341676	broad.mit.edu	37	13	52676350	52676350	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr13:52676350G>A	uc001vge.3	-	9	828	c.688C>T	c.(688-690)Cgt>Tgt	p.R230C		NM_199289	NP_954983	Q6P3R8	NEK5_HUMAN	Homo sapiens NIMA (never in mitosis gene a)-related kinase 5 (NEK5), mRNA.	230	Protein kinase.						ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;3.7e-08)		TGGAGCTCACGAGAAAACCCC	0.418000														167			112		0	0	1	0	0
NRK	203447	broad.mit.edu	37	X	105150502	105150502	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chrX:105150502G>A	uc004emd.3	+	10	1244	c.941G>A	c.(940-942)cGg>cAg	p.R314Q	NRK_uc010npc.1_5'UTR	NM_198465	NP_940867	Q7Z2Y5	NRK_HUMAN	Homo sapiens Nik related kinase (NRK), mRNA.	314							ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						CCATTTGTTCGGGATATAAAA	0.338000										HNSCC(51;0.14)				2			10		0	0	1	0	0
LIPA	3988	broad.mit.edu	37	10	90983476	90983476	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr10:90983476G>A	uc001kgc.4	-	5	1083	c.793C>T	c.(793-795)Ctt>Ttt	p.L265F	LIPA_uc001kgb.4_Missense_Mutation_p.L207F|LIPA_uc010qnf.2_Missense_Mutation_p.L68F|LIPA_uc001kga.4_Missense_Mutation_p.L263F|LIPA_uc009xtq.3_Missense_Mutation_p.L263F|LIPA_uc009xtr.1_Non-coding_Transcript	NM_001127605	NP_001121077	P38571	LICH_HUMAN	Homo sapiens lipase A, lysosomal acid, cholesterol esterase (LIPA), transcript variant 1, mRNA.	263					lipid catabolic process	lysosome	lipase activity|sterol esterase activity			endometrium(1)|large_intestine(2)|lung(3)	6		Colorectal(252;0.0162)		GBM - Glioblastoma multiforme(2;0.00406)		CCACACAGAAGAAAACAGAGA	0.353000														52			48		0	0	1	0	0
CEACAM18	729767	broad.mit.edu	37	19	51986374	51986374	+	Silent	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr19:51986374C>T	uc002pwv.1	+	4	960	c.960C>T	c.(958-960)tcC>tcT	p.S320S		NM_001080405	NP_001073874	A8MTB9	CEA18_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 18 (CEACAM18), mRNA.	320	Ig-like C2-type.					integral to membrane				breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1)	17		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		TCTGCTATTCCTTCCTGGATC	0.522000														130			130		0	0	1	0	0
MYO9A	4649	broad.mit.edu	37	15	72252254	72252254	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr15:72252254G>A	uc002atl.4	-	13	2643	c.2170C>T	c.(2170-2172)Cac>Tac	p.H724Y	MYO9A_uc010biq.3_Missense_Mutation_p.H319Y|MYO9A_uc002ato.3_Missense_Mutation_p.H724Y|MYO9A_uc002atn.1_Missense_Mutation_p.H705Y	NM_006901	NP_008832	B2RTY4	MYO9A_HUMAN	Homo sapiens myosin IXA (MYO9A), mRNA.	724					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	ATP binding|GTPase activator activity|actin binding|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						GTTTTTCTGTGAATGTTTCTT	0.363000														17			13		0	0	1	0	0
PPP6R2	9701	broad.mit.edu	37	22	50857874	50857875	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr22:50857874_50857875GG>AA	uc003blb.2	+	8	1250_1251	c.828_829GG>AA	c.(826-831)ctggaa>ctAAaa	p.E277K	PPP6R2_uc003blc.3_Missense_Mutation_p.E277K|PPP6R2_uc003bky.2_Missense_Mutation_p.E277K|PPP6R2_uc003bla.2_Missense_Mutation_p.E278K|PPP6R2_uc003bkz.2_Missense_Mutation_p.E277K	NM_001242898	NP_001229827	O75170	PP6R2_HUMAN	Homo sapiens protein phosphatase 6, regulatory subunit 2 (PPP6R2), transcript variant 1, mRNA.	277						cytoplasm|intracellular membrane-bounded organelle	protein binding	p.L276L(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	22						TCACCTTGCTGGAAACCAGGCG	0.550000														7			26		0	0	1	0	0
COL19A1	1310	broad.mit.edu	37	6	70847595	70847595	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr6:70847595G>A	uc003pfc.1	+	18	1519	c.1402G>A	c.(1402-1404)Gga>Aga	p.G468R	COL19A1_uc010kam.2_Missense_Mutation_p.G364R	NM_001858	NP_001849	Q14993	COJA1_HUMAN	Homo sapiens collagen, type XIX, alpha 1 (COL19A1), mRNA.	468	Triple-helical region 3 (COL3).				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						TGGACTACCAGGATTTCCAGG	0.393000														63			60		0	0	1	0	0
CACNA1H	8912	broad.mit.edu	37	16	1261797	1261797	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr16:1261797G>A	uc002cks.3	+	23	4806	c.4558G>A	c.(4558-4560)Gac>Aac	p.D1520N	CACNA1H_uc002ckt.3_Missense_Mutation_p.D1520N|CACNA1H_uc002cku.3_Missense_Mutation_p.D226N|CACNA1H_uc010brj.3_Missense_Mutation_p.D226N|CACNA1H_uc002ckv.3_Missense_Mutation_p.D226N	NM_021098	NP_066921	O95180	CAC1H_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1H subunit (CACNA1H), transcript variant 1, mRNA.	1520					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	CGTGGGTGTCGACCAGCAGGT	0.667000														68			66		0	0	1	0	0
RGS7	6000	broad.mit.edu	37	1	240975259	240975259	+	Silent	SNP	G	A	A	rs114051974	by1000genomes	TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr1:240975259G>A	uc001hyt.2	-	6	591	c.537C>T	c.(535-537)ttC>ttT	p.F179F	RGS7_uc010pyh.2_Silent_p.F321F|RGS7_uc010pyj.1_Silent_p.F263F|RGS7_uc001hyu.2_Silent_p.F347F|RGS7_uc009xgn.1_Silent_p.F294F|RGS7_uc001hyv.2_Silent_p.F347F|RGS7_uc001hyw.2_Silent_p.F347F	NM_002924	NP_002915	P49802	RGS7_HUMAN	Homo sapiens regulator of G-protein signaling 7 (RGS7), mRNA.	347					G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity	p.D178Y(2)		breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			GAAATTTAAGGAACTGTTCTC	0.418000														76			36		0	0	1	0	0
SCARA5	286133	broad.mit.edu	37	8	27779539	27779539	+	Silent	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr8:27779539C>T	uc003xgj.3	-	3	1076	c.465G>A	c.(463-465)ggG>ggA	p.G155G	SCARA5_uc010luz.3_Intron|SCARA5_uc003xgk.3_Silent_p.G112G|SCARA5_uc003xgl.3_Silent_p.G155G	NM_173833	NP_776194	Q6ZMJ2	SCAR5_HUMAN	Homo sapiens scavenger receptor class A, member 5 (putative) (SCARA5), mRNA.	155					cellular iron ion homeostasis|endocytosis|iron ion transmembrane transport|protein homotrimerization	integral to plasma membrane	ferritin receptor activity|scavenger receptor activity	p.L156fs*40(1)		central_nervous_system(1)|large_intestine(6)|lung(5)|prostate(3)|skin(3)	18		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)|Colorectal(74;0.228)		GCGCCTGCAGCCCCCACAGCG	0.726000														7			12		0	0	1	0	0
MYH3	4621	broad.mit.edu	37	17	10547980	10547980	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr17:10547980G>A	uc002gmq.2	-	12	1269	c.1181C>T	c.(1180-1182)tCg>tTg	p.S394L		NM_002470	NP_002461	P11055	MYH3_HUMAN	Homo sapiens myosin, heavy chain 3, skeletal muscle, embryonic (MYH3), mRNA.	394	Myosin head-like.				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						TAGGAGGTCCGAAGAGTTCAG	0.458000														55			40		0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38913243	38913243	+	Splice_Site	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr6:38913243G>A	uc021yzh.1	+	80	12117	c.12008_splice	c.e80-1	p.G4003_splice	DNAH8_uc003ooe.2_Splice_Site_p.G3786_splice|DNAH8_uc003oog.1_Splice_Site_p.G235_splice|LOC100131047_uc003oof.2_Intron	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TCTTCCCCAGGGGGAGCAGCT	0.458000														70			52		0	0	1	0	0
FAM49A	81553	broad.mit.edu	37	2	16746931	16746931	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr2:16746931C>T	uc010exm.2	-	2	323	c.175G>A	c.(175-177)Ggc>Agc	p.G59S	FAM49A_uc002rck.2_Missense_Mutation_p.G59S	NM_030797	NP_110424	Q9H0Q0	FA49A_HUMAN	Homo sapiens family with sequence similarity 49, member A (FAM49A), mRNA.	59						intracellular				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.0734)|all_hematologic(175;0.088)		GBM - Glioblastoma multiforme(3;0.00969)			ATCTCTGGGCCTGCGCCTTTG	0.522000														68			40		0	0	1	0	0
DNAH12	201625	broad.mit.edu	37	3	57494115	57494115	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr3:57494115C>T	uc003dit.2	-	6	876	c.695G>A	c.(694-696)gGa>gAa	p.G232E	DNAH12_uc003diu.2_Missense_Mutation_p.G232E	NM_178504	NP_848599	Q6ZR08	DYH12_HUMAN	Homo sapiens dynein, axonemal, heavy chain 12 (DNAH12), transcript variant 1, mRNA.	232	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|prostate(1)|skin(1)	25						TTACCTAATTCCTGTGAAGTC	0.294000														29			22		0	0	1	0	0
SPTBN2	6712	broad.mit.edu	37	11	66468511	66468511	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr11:66468511C>T	uc001ojd.3	-	15	3131	c.3059G>A	c.(3058-3060)cGa>cAa	p.R1020Q		NM_006946	NP_008877	O15020	SPTN2_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 2 (SPTBN2), mRNA.	1020					actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton	p.R1020*(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						ATTTGCCTCTCGAGTCAGTTC	0.706000														61			54		0	0	1	0	0
ARHGEF10	9639	broad.mit.edu	37	8	1851497	1851497	+	Silent	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr8:1851497G>A	uc003wpr.3	+	15	1879	c.1701G>A	c.(1699-1701)caG>caA	p.Q567Q	ARHGEF10_uc003wpq.1_Silent_p.Q591Q|ARHGEF10_uc003wps.3_Silent_p.Q529Q|ARHGEF10_uc003wpt.3_Silent_p.Q443Q|ARHGEF10_uc003wpv.3_Silent_p.Q300Q|ARHGEF10_uc010lre.3_Silent_p.Q247Q	NM_014629	NP_055444	O15013	ARHGA_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 10 (ARHGEF10), mRNA.	592	DH.				centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	Rho guanyl-nucleotide exchange factor activity|kinesin binding			endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		TGCCTCTTCAGATGGCCCTGA	0.507000														126			108		0	0	1	0	0
CASQ1	844	broad.mit.edu	37	1	160160618	160160618	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr1:160160618G>A	uc010pja.2	+	0	334	c.77G>A	c.(76-78)gGg>gAg	p.G26E		NM_001231	NP_001222	P31415	CASQ1_HUMAN	Homo sapiens calsequestrin 1 (fast-twitch, skeletal muscle) (CASQ1), nuclear gene encoding mitochondrial protein, mRNA.	26						mitochondrial matrix|sarcoplasmic reticulum lumen|smooth endoplasmic reticulum	calcium ion binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	21	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CTGGTGCTAGGGACACCCAAG	0.577000														103			44		0	0	1	0	0
PEAR1	375033	broad.mit.edu	37	1	156877842	156877842	+	Splice_Site	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr1:156877842C>T	uc001fqj.1	+	8	1018	c.902_splice	c.e8+1	p.R301_splice	PEAR1_uc009wsl.1_Splice_Site_p.R102_splice|PEAR1_uc001fqk.1_5'UTR	NM_001080471	NP_001073940	Q5VY43	PEAR1_HUMAN	Homo sapiens platelet endothelial aggregation receptor 1 (PEAR1), mRNA.	301	EGF-like 3.					integral to membrane				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CACTGGGGATCGGTGAGTGGC	0.701000														23			8		0	0	1	0	0
EPX	8288	broad.mit.edu	37	17	56271403	56271403	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr17:56271403C>T	uc002ivq.3	+	4	663	c.544C>T	c.(544-546)Ccc>Tcc	p.P182S		NM_000502	NP_000493	P11678	PERE_HUMAN	Homo sapiens eosinophil peroxidase (EPX), mRNA.	182					hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48						GCTGTCGCTCCCCTTCGGCTG	0.627000														45			27		0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141747673	141747673	+	Splice_Site	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr7:141747673G>A	uc003vwy.3	+	22	2641	c.2587_splice	c.e22+1	p.D863_splice		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	863	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GGAAACGAAGGGTGAGCACTT	0.458000														17			9		0	0	1	0	0
NLRP3	114548	broad.mit.edu	37	1	247587615	247587615	+	Silent	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr1:247587615C>T	uc001icr.3	+	4	1008	c.870C>T	c.(868-870)atC>atT	p.I290I	NLRP3_uc001ics.3_Silent_p.I290I|NLRP3_uc001icu.3_Silent_p.I290I|NLRP3_uc001icw.3_Silent_p.I290I|NLRP3_uc001icv.3_Silent_p.I290I|NLRP3_uc010pyw.2_Silent_p.I288I|NLRP3_uc001ict.1_Silent_p.I288I	NM_001079821	NP_001230062	Q96P20	NALP3_HUMAN	Homo sapiens NLR family, pyrin domain containing 3 (NLRP3), transcript variant 3, mRNA.	290	NACHT.				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			TCCACAAGATCGTGAGAAAAC	0.562000														178			79		0	0	1	0	0
EFEMP2	30008	broad.mit.edu	37	11	65635830	65635830	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr11:65635830G>A	uc001ofy.4	-	8	1169	c.910C>T	c.(910-912)Cat>Tat	p.H304Y	EFEMP2_uc001ofz.3_Non-coding_Transcript	NM_016938	NP_058634	O95967	FBLN4_HUMAN	Homo sapiens EGF containing fibulin-like extracellular matrix protein 2 (EFEMP2), transcript variant 1, mRNA.	304	EGF-like 6; calcium-binding (Potential).				blood coagulation	basement membrane|membrane	calcium ion binding|extracellular matrix structural constituent|protein binding|transmembrane receptor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21				READ - Rectum adenocarcinoma(159;0.169)		TAGCCCCCATGGAAGTTGACA	0.602000														48			25		0	0	1	0	0
SELP	6403	broad.mit.edu	37	1	169576219	169576219	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr1:169576219C>T	uc001ggi.4	-	8	1552	c.1487G>A	c.(1486-1488)gGa>gAa	p.G496E	SELP_uc001ggh.3_Missense_Mutation_p.G331E|SELP_uc009wvr.3_Missense_Mutation_p.G496E	NM_003005	NP_002996	P16109	LYAM3_HUMAN	Homo sapiens selectin P (granule membrane protein 140kDa, antigen CD62) (SELP), mRNA.	496	Sushi 5.				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	ATTCCAGTTTCCAGTAGCCAA	0.453000														75			40		0	0	1	0	0
AMPD1	270	broad.mit.edu	37	1	115218614	115218614	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr1:115218614G>A	uc001efe.2	-	10	1546	c.1498C>T	c.(1498-1500)Cgt>Tgt	p.R500C	AMPD1_uc001eff.2_Missense_Mutation_p.R496C	NM_000036	NP_000027	P23109	AMPD1_HUMAN	Homo sapiens adenosine monophosphate deaminase 1 (AMPD1), transcript variant 1, mRNA.	467					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	TTCTTGGAACGGAACACATCA	0.428000														72			68		0	0	1	0	0
COL21A1	81578	broad.mit.edu	37	6	56044493	56044493	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr6:56044493C>T	uc003pcs.3	-	2	755	c.523G>A	c.(523-525)Gaa>Aaa	p.E175K	COL21A1_uc003pct.1_Non-coding_Transcript|COL21A1_uc011dxi.1_Missense_Mutation_p.E175K|COL21A1_uc003pcu.1_Missense_Mutation_p.E175K	NM_030820	NP_110447	Q96P44	COLA1_HUMAN	Homo sapiens collagen, type XXI, alpha 1 (COL21A1), mRNA.	175	VWFA.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			TCGGCATCTTCTGTTTCTGAA	0.393000														25			17		0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21234789	21234789	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr2:21234789C>T	uc002red.3	-	25	5079	c.4951G>A	c.(4951-4953)Gga>Aga	p.G1651R		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	1651					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)	GTAGATATTCCATCTTGGCCA	0.448000														42			29		0	0	1	0	0
LRRC16B	90668	broad.mit.edu	37	14	24528521	24528521	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr14:24528521C>T	uc001wlj.2	+	20	1826	c.1669C>T	c.(1669-1671)Cgc>Tgc	p.R557C	LRRC16B_uc001wlk.2_5'Flank	NM_138360	NP_612369	Q8ND23	LR16B_HUMAN	Homo sapiens leucine rich repeat containing 16B (LRRC16B), mRNA.	557										breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52				GBM - Glioblastoma multiforme(265;0.019)		GCTGAAGCTTCGCACCAGCAT	0.637000														46			30		0	0	1	0	0
CAMTA1	23261	broad.mit.edu	37	1	7723941	7723941	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr1:7723941C>T	uc001aoi.3	+	8	1541	c.1334C>T	c.(1333-1335)cCc>cTc	p.P445L		NM_015215	NP_056030	Q9Y6Y1	CMTA1_HUMAN	Homo sapiens calmodulin binding transcription activator 1 (CAMTA1), transcript variant 1, mRNA.	445					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		TTCGCCTTTCCCACCACGGGC	0.647000			T	WWTR1	epitheliod hemangioendothelioma									84			69		0	0	1	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37505242	37505242	+	Silent	SNP	G	A	A	rs140013037	by1000genomes	TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr10:37505242G>A	uc021ppc.1	+	31	2934	c.2835G>A	c.(2833-2835)aaG>aaA	p.K945K	ANKRD30A_uc001iza.1_Silent_p.K945K	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	1001						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						TACTGAAAAAGAAACTGTCAG	0.343000														24			19		0	0	1	0	0
CMBL	134147	broad.mit.edu	37	5	10280619	10280620	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr5:10280619_10280620GG>AA	uc003jes.3	-	5	1134_1135	c.683_684CC>TT	c.(682-684)ccc>cTT	p.P228L		NM_138809	NP_620164	Q96DG6	CMBL_HUMAN	Homo sapiens carboxymethylenebutenolidase homolog (Pseudomonas) (CMBL), mRNA.	228						cytosol	hydrolase activity|protein binding			endometrium(1)|large_intestine(1)|lung(9)|skin(1)|stomach(1)	13						CGTCAATGTAGGGCTTGTCTGC	0.421000														60			32		0	0	1	0	0
OR8B2	26595	broad.mit.edu	37	11	124252580	124252580	+	Silent	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr11:124252580G>A	uc010sai.2	-	0	660	c.660C>T	c.(658-660)ttC>ttT	p.F220F		NM_001005468	NP_001005468	Q96RD0	OR8B2_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily B, member 2 (OR8B2), mRNA.	220					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(13)|ovary(1)	23		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		TAGTGACAATGAAAACATAAG	0.413000														63			66		0	0	1	0	0
RRP1B	23076	broad.mit.edu	37	21	45103231	45103231	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr21:45103231G>A	uc002zdk.3	+	8	982	c.868G>A	c.(868-870)Gag>Aag	p.E290K	RRP1B_uc002zdl.3_5'Flank	NM_015056	NP_055871	Q14684	RRP1B_HUMAN	Homo sapiens ribosomal RNA processing 1 homolog B (S. cerevisiae) (RRP1B), mRNA.	290					rRNA processing	cytosol|nucleolus|preribosome, small subunit precursor	protein binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(1)	21				STAD - Stomach adenocarcinoma(101;0.178)		TGGAACCTTTGAGGACACAGG	0.438000														44			34		0	0	1	0	0
ST6GALNAC4	27090	broad.mit.edu	37	9	130674610	130674610	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr9:130674610G>A	uc004bss.3	-	3	824	c.548C>T	c.(547-549)aCc>aTc	p.T183I	ST6GALNAC4_uc004bst.3_Missense_Mutation_p.T99I	NM_175039	NP_778205	Q9H4F1	SIA7D_HUMAN	Homo sapiens ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1, 3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 4 (ST6GALNAC4), transcript variant 1, mRNA.	183					glycolipid metabolic process|protein glycosylation	integral to Golgi membrane|nucleus|soluble fraction	(alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl-galactosaminide 6-alpha-sialyltransferase activity			endometrium(1)|large_intestine(2)|lung(2)|prostate(2)	7						CTCCGTGAAGGTGTACACCTG	0.672000														5			45		0	0	1	0	0
FAM184A	79632	broad.mit.edu	37	6	119332542	119332542	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr6:119332542G>A	uc003pyj.3	-	5	1933	c.1585C>T	c.(1585-1587)Cag>Tag	p.Q529*	FAM184A_uc003pyk.4_Nonsense_Mutation_p.Q409*|FAM184A_uc003pyl.4_Nonsense_Mutation_p.Q409*	NM_024581	NP_078857	Q8NB25	F184A_HUMAN	Homo sapiens family with sequence similarity 184, member A (FAM184A), transcript variant 1, mRNA.	529										breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						TGTTGAAGCTGATTTTTATCC	0.313000														14			6		0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196729702	196729702	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr2:196729702C>T	uc002utj.4	-	40	6778	c.6677G>A	c.(6676-6678)aGa>aAa	p.R2226K		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	2226					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						GAGCCAGCTTCTGTCTGTATT	0.343000														37			27		0	0	1	0	0
TRIM46	80128	broad.mit.edu	37	1	155147898	155147898	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr1:155147898C>T	uc001fhs.1	+	1	183	c.100C>T	c.(100-102)Cca>Tca	p.P34S	KRTCAP2_uc001fho.3_5'Flank|KRTCAP2_uc001fhp.1_5'Flank|TRIM46_uc009wpe.1_Non-coding_Transcript|TRIM46_uc010pez.1_Missense_Mutation_p.P21S|TRIM46_uc001fhq.3_Non-coding_Transcript|TRIM46_uc001fhr.3_Missense_Mutation_p.P34S|TRIM46_uc001fht.1_Non-coding_Transcript|TRIM46_uc010pfa.1_Intron|TRIM46_uc001fhu.1_Missense_Mutation_p.P11S|TRIM46_uc009wpg.1_Missense_Mutation_p.P21S|TRIM46_uc009wpf.2_Missense_Mutation_p.P21S|TRIM46_uc001fhw.1_Non-coding_Transcript	NM_025058	NP_079334	Q7Z4K8	TRI46_HUMAN	Homo sapiens tripartite motif containing 46 (TRIM46), mRNA.	34						intracellular	zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	29	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			ACTGCTGTGCCCAGTGTGTCA	0.587000														165			276		0	0	1	0	0
FAM75E1	286234	broad.mit.edu	37	9	90503012	90503012	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr9:90503012G>A	uc004app.4	+	3	3645	c.3610G>A	c.(3610-3612)Ggc>Agc	p.G1204S		NM_178828	NP_849150	Q6ZUB1	CI079_HUMAN	Homo sapiens chromosome 9 open reading frame 79 (C9orf79), mRNA.	1204						integral to membrane											TGCGGACAAGGGCGAGGCCCA	0.652000														3			25		0	0	1	0	0
TET3	200424	broad.mit.edu	37	2	74328187	74328187	+	Silent	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr2:74328187G>A	uc002skb.4	+	8	3867	c.3867G>A	c.(3865-3867)gaG>gaA	p.E1289E		NM_144993	NP_659430	O43151	TET3_HUMAN	Homo sapiens tet methylcytosine dioxygenase 3 (TET3), mRNA.	1289							metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CTCTGTCCGAGGTGTCTCAGA	0.597000														34			28		0	0	1	0	0
DSC1	1823	broad.mit.edu	37	18	28725708	28725708	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr18:28725708G>A	uc002kwn.3	-	6	1067	c.805C>T	c.(805-807)Ctt>Ttt	p.L269F	DSC1_uc002kwm.3_Missense_Mutation_p.L269F	NM_024421	NP_077739	Q08554	DSC1_HUMAN	Homo sapiens desmocollin 1 (DSC1), transcript variant Dsc1a, mRNA.	269	Cadherin 2.				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			GGTTCGTCAAGGTCTGTGGCG	0.358000														42			35		0	0	1	0	0
VPREB1	7441	broad.mit.edu	37	22	22599717	22599717	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr22:22599717G>A	uc002zvx.1	+	1	432	c.406G>A	c.(406-408)Gaa>Aaa	p.E136K	abParts_uc021wml.1_Intron	NM_007128	NP_009059	P12018	VPREB_HUMAN	Homo sapiens pre-B lymphocyte 1 (VPREB1), mRNA.	136					immune response	extracellular region	antigen binding|protein binding			large_intestine(1)|liver(1)|lung(6)|skin(1)	9	all_hematologic(9;0.0312)|Acute lymphoblastic leukemia(84;0.155)	all_cancers(3;3.14e-14)|Acute lymphoblastic leukemia(3;2.97e-57)|all_hematologic(3;5.9e-52)		READ - Rectum adenocarcinoma(21;0.145)		ggaagaaatggaACCCACTGC	0.607000														1			8		0	0	1	0	0
FAM71A	149647	broad.mit.edu	37	1	212799742	212799742	+	RNA	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr1:212799742C>T	uc010pth.1	-	0		c.372G>A			FAM71A_uc001hjk.3_Missense_Mutation_p.S508F			Q8IYT1	FA71A_HUMAN	Homo sapiens cDNA FLJ40118 fis, clone TESTI2009412.											breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)		TCTCACAAATCTGGGAGGAGC	0.557000														89			108		0	0	1	0	0
DAZL	1618	broad.mit.edu	37	3	16640011	16640011	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr3:16640011G>A	uc003cba.3	-	1	446	c.158C>T	c.(157-159)cCa>cTa	p.P53L	DAZL_uc003cbb.3_Missense_Mutation_p.P33L	NM_001190811	NP_001177740	Q92904	DAZL_HUMAN	Homo sapiens deleted in azoospermia-like (DAZL), transcript variant 1, mRNA.	33	RRM.				germ cell development|multicellular organismal development|positive regulation of translational initiation|spermatogenesis	cytoplasm|nucleus	RNA binding|nucleotide binding|protein binding|translation activator activity		RAF1/DAZL(2)	endometrium(1)|large_intestine(3)|lung(4)|prostate(3)	11						TTTGCCTTCTGGTAAAATATA	0.403000														96			79		0	0	1	0	0
TCRA	0	broad.mit.edu	37	14	22447294	22447294	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr14:22447294C>T	uc010tmm.2	+	1	467	c.275C>T	c.(274-276)tCc>tTc	p.S92F	TRA_uc021rpa.1_Intron|TCRA_uc001wbw.2_Intron|TCRA_uc021rpe.1_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron|TCRA_uc021rpj.1_Intron|T-Cell_Receptor_V-alpha_region_uc021rpl.1_Intron|TCRA_uc010tmo.2_Non-coding_Transcript					Homo sapiens mRNA for unknown variable region, clone: SEB 74.																		AGTCAAACTTCCTTCCACTTG	0.483000											OREG0022573	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		77			33		0	0	1	0	0
CELSR3	1951	broad.mit.edu	37	3	48679411	48679411	+	Silent	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr3:48679411G>A	uc003cuf.1	-	33	8991	c.8991C>T	c.(8989-8991)tcC>tcT	p.S2997S	CELSR3_uc010hkf.3_Silent_p.S189S|CELSR3_uc010hkg.3_Silent_p.S882S|CELSR3_uc003cul.3_Silent_p.S2899S	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 3 (flamingo homolog, Drosophila) (CELSR3), mRNA.	2899					homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CCTCCTCCAAGGACAGGTCAC	0.562000														31			14		0	0	1	0	0
ZFYVE26	23503	broad.mit.edu	37	14	68274242	68274242	+	Silent	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr14:68274242G>A	uc001xka.2	-	4	898	c.759C>T	c.(757-759)ccC>ccT	p.P253P	ZFYVE26_uc010tsz.1_Non-coding_Transcript|ZFYVE26_uc001xkc.4_Silent_p.P253P|ZFYVE26_uc010tta.2_Silent_p.P253P	NM_015346	NP_056161	Q68DK2	ZFY26_HUMAN	Homo sapiens zinc finger, FYVE domain containing 26 (ZFYVE26), mRNA.	253					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		CCTCCCGCAGGGGACTCCCCT	0.627000														44			39		0	0	1	0	0
GINS2	51659	broad.mit.edu	37	16	85721084	85721084	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr16:85721084G>A	uc002fja.3	-	1	271	c.187C>T	c.(187-189)Cca>Tca	p.P63S	GINS2_uc002fjb.2_Missense_Mutation_p.P63S	NM_016095	NP_057179	Q9Y248	PSF2_HUMAN	Homo sapiens GINS complex subunit 2 (Psf2 homolog) (GINS2), mRNA.	63					DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle	nucleoplasm	protein binding			endometrium(2)|large_intestine(2)|lung(2)	6						ATCCACTCTGGAGGGAGCAGG	0.602000														108			94		0	0	1	0	0
MAGI2	9863	broad.mit.edu	37	7	77824296	77824296	+	Missense_Mutation	SNP	C	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr7:77824296C>A	uc003ugx.3	-	11	2418	c.2164G>T	c.(2164-2166)Gcc>Tcc	p.A722S	MAGI2_uc003ugy.3_Missense_Mutation_p.A722S|MAGI2_uc010ldx.1_Missense_Mutation_p.A331S|MAGI2_uc010ldy.1_Missense_Mutation_p.A331S	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN	Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 2 (MAGI2), mRNA.	722						cell junction|synapse|synaptosome	phosphatase binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				CTGTGAAGGGCAGGTGGGAAG	0.512000														102			13		4.3838e-07	4.4066e-07	1	1	0
OR8G2	26492	broad.mit.edu	37	11	124095622	124095622	+	Silent	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr11:124095622C>T	uc010saf.2	+	0	225	c.225C>T	c.(223-225)ttC>ttT	p.F75F		NM_001007249	NP_001007250	Q8N0Y1	Q8N0Y1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily G, member 2 (OR8G2), mRNA.	75						integral to membrane	olfactory receptor activity						Breast(109;0.0157)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.91e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		TGTACTATTTCCTCAGTGGTC	0.463000														108			116		0	0	1	0	0
BBS9	27241	broad.mit.edu	37	7	33423371	33423371	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr7:33423371G>A	uc003tdn.1	+	17	2396	c.1883G>A	c.(1882-1884)gGa>gAa	p.G628E	BBS9_uc003tdo.1_Missense_Mutation_p.G593E|BBS9_uc003tdp.1_Missense_Mutation_p.G623E|BBS9_uc003tdq.1_Missense_Mutation_p.G588E|BBS9_uc010kwn.1_Non-coding_Transcript|BBS9_uc003tdr.1_Missense_Mutation_p.G152E|BBS9_uc003tds.1_Missense_Mutation_p.G51E|BBS9_uc011kao.1_Missense_Mutation_p.G506E	NM_198428	NP_940820	Q3SYG4	PTHB1_HUMAN	Homo sapiens Bardet-Biedl syndrome 9 (BBS9), transcript variant 2, mRNA.	628					fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding		BBS9/PKD1L1(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50			GBM - Glioblastoma multiforme(11;0.0894)			GAAAAACAGGGAGTCAAAGAT	0.358000									Bardet-Biedl syndrome					13			10		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13841911	13841911	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr5:13841911G>A	uc003jfd.2	-	32	5416	c.5374C>T	c.(5374-5376)Ctt>Ttt	p.L1792F		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	1792	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)					TCTTCCAAAAGAGAATTAAGC	0.413000									Kartagener syndrome					42			48		0	0	1	0	0
STAT1	6772	broad.mit.edu	37	2	191845366	191845366	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr2:191845366G>A	uc010fse.2	-	17	2044	c.1612C>T	c.(1612-1614)Ccg>Tcg	p.P538S	STAT1_uc021vue.1_Missense_Mutation_p.P350S|STAT1_uc002usj.2_Missense_Mutation_p.P538S|STAT1_uc002usk.2_Missense_Mutation_p.P538S|STAT1_uc002usl.2_Missense_Mutation_p.P540S|STAT1_uc010fsf.1_Missense_Mutation_p.P350S	NM_007315	NP_009330	P42224	STAT1_HUMAN	Homo sapiens signal transducer and activator of transcription 1, 91kDa (STAT1), transcript variant alpha, mRNA.	538					I-kappaB kinase/NF-kappaB cascade|activation of caspase activity|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein	cytosol|nucleolus|nucleoplasm	RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|calcium ion binding|protein binding|signal transducer activity	p.P538L(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)		Fludarabine(DB01073)	CTCGTCCACGGAATGAGACCA	0.438000														65			34		0	0	1	0	0
TADA3	10474	broad.mit.edu	37	3	9828998	9828998	+	Silent	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr3:9828998G>A	uc003bsx.1	-	4	1139	c.591C>T	c.(589-591)tcC>tcT	p.S197S	TADA3_uc010hcn.1_Silent_p.S197S|TADA3_uc003bsy.3_Silent_p.S197S|TADA3_uc003bsw.1_Silent_p.S26S	NM_006354	NP_006345	O75528	TADA3_HUMAN	Homo sapiens transcriptional adaptor 3 (TADA3), transcript variant 1, mRNA.	197					estrogen receptor signaling pathway|histone H3 acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex	ligand-dependent nuclear receptor binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	16						CCCAGCGCTGGGAGTAGTGCT	0.607000														78			70		0	0	1	0	0
LRRC31	79782	broad.mit.edu	37	3	169574607	169574607	+	Missense_Mutation	SNP	T	G	G			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr3:169574607T>G	uc003fgc.1	-	3	606	c.541A>C	c.(541-543)Agt>Cgt	p.S181R	LRRC31_uc010hwp.1_Missense_Mutation_p.S125R	NM_024727	NP_079003	Q6UY01	LRC31_HUMAN	Homo sapiens leucine rich repeat containing 31 (LRRC31), mRNA.	181								p.N180I(1)		cervix(3)|endometrium(3)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	31	all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943)			CCCACTTTACTGTTCCAAGAC	0.413000														46			47		0	0	1	0	0
PDIA5	10954	broad.mit.edu	37	3	122842984	122842984	+	Silent	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr3:122842984C>T	uc003egc.2	+	8	837	c.681C>T	c.(679-681)ttC>ttT	p.F227F	PDIA5_uc003egd.2_Non-coding_Transcript	NM_006810	NP_006801	Q14554	PDIA5_HUMAN	Homo sapiens protein disulfide isomerase family A, member 5 (PDIA5), transcript variant 1, mRNA.	227	Thioredoxin 1.				cell redox homeostasis|glycerol ether metabolic process|protein folding|response to stress	endoplasmic reticulum lumen	electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	21				GBM - Glioblastoma multiforme(114;0.0427)		TGCGCGGCTTCCCCACCATCT	0.537000														56			39		0	0	1	0	0
KCNJ15	3772	broad.mit.edu	37	21	39672192	39672192	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr21:39672192C>T	uc021wjc.1	+	0	1009	c.1009C>T	c.(1009-1011)Cca>Tca	p.P337S	KCNJ15_uc002ywv.3_Missense_Mutation_p.P337S|KCNJ15_uc002yww.3_Missense_Mutation_p.P337S|KCNJ15_uc002ywx.3_Missense_Mutation_p.P337S	NM_170737	NP_733933	Q99712	IRK15_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 15 (KCNJ15), transcript variant 3, mRNA.	337					synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity	p.S336R(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	24						TCGGAAAAGCCCAGATTGCAC	0.428000														32			34		0	0	1	0	0
BC128131	0	broad.mit.edu	37	19	23159244	23159244	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr19:23159244G>A	uc002nqz.1	-	1	729	c.703C>T	c.(703-705)Ctt>Ttt	p.L235F	BC128131_uc002nqy.1_Non-coding_Transcript					Homo sapiens zinc finger protein 117, mRNA (cDNA clone IMAGE:40112371).																		TGTGCAGTAAGGGTTGAGGCC	0.438000														28			21		0	0	1	0	0
SLC7A8	23428	broad.mit.edu	37	14	23598974	23598974	+	Missense_Mutation	SNP	T	C	C			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr14:23598974T>C	uc001wiz.3	-	8	1874	c.1148A>G	c.(1147-1149)gAc>gGc	p.D383G	SLC7A8_uc001wiw.3_5'UTR|SLC7A8_uc001wix.3_Missense_Mutation_p.D180G|SLC7A8_uc010tnk.2_Missense_Mutation_p.D159G|SLC7A8_uc010tnl.2_Missense_Mutation_p.D278G|SLC7A8_uc001wiy.3_Non-coding_Transcript|SLC7A8_uc010akj.3_Intron	NM_012244	NP_877392	Q9UHI5	LAT2_HUMAN	Homo sapiens solute carrier family 7 (amino acid transporter light chain, L system), member 8 (SLC7A8), transcript variant 1, mRNA.	383					blood coagulation|cellular amino acid metabolic process|leukocyte migration|metal ion homeostasis|response to toxin	basolateral plasma membrane|cytoplasm|integral to plasma membrane	neutral amino acid transmembrane transporter activity|organic cation transmembrane transporter activity|peptide antigen binding|protein binding|toxin transporter activity			autonomic_ganglia(1)|endometrium(6)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|skin(1)	24	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.00809)	L-Alanine(DB00160)|L-Glutamine(DB00130)|L-Phenylalanine(DB00120)	TGTGTACATGTCGCTGGTGAC	0.493000														188			204		0	0	1	0	0
TINAG	27283	broad.mit.edu	37	6	54219401	54219401	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr6:54219401G>A	uc003pcj.2	+	8	1363	c.1217G>A	c.(1216-1218)cGa>cAa	p.R406Q	TINAG_uc010jzt.2_Non-coding_Transcript	NM_014464	NP_055279	Q9UJW2	TINAG_HUMAN	Homo sapiens tubulointerstitial nephritis antigen (TINAG), mRNA.	406					Malpighian tubule morphogenesis|cell adhesion|immune response|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			GAAAAATATCGAAAGCTTCAG	0.318000														24			26		0	0	1	0	0
ARFGEF2	10564	broad.mit.edu	37	20	47570302	47570302	+	Silent	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr20:47570302C>T	uc002xtx.4	+	5	965	c.813C>T	c.(811-813)ccC>ccT	p.P271P		NM_006420	NP_006411	Q9Y6D5	BIG2_HUMAN	Homo sapiens ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited) (ARFGEF2), mRNA.	271					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	Golgi membrane|cytosol	ARF guanyl-nucleotide exchange factor activity			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			GAGACGCACCCAGAGAAAGAG	0.473000														38			22		0	0	1	0	0
FAM209B	388799	broad.mit.edu	37	20	55108454	55108454	+	Silent	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr20:55108454C>T	uc002xxz.3	+	0	153	c.57C>T	c.(55-57)gcC>gcT	p.A19A	FAM209B_uc010zzh.2_Intron	NM_001013646	NP_001013668	Q5JX69	CT107_HUMAN	Homo sapiens family with sequence similarity 209, member B (FAM209B), mRNA.	19						integral to membrane											GCAGCTATGCCTTTATGTTCT	0.552000														123			102		0	0	1	0	0
MAGEA11	4110	broad.mit.edu	37	X	148797450	148797450	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chrX:148797450C>T	uc004fdq.3	+	4	459	c.304C>T	c.(304-306)Cgg>Tgg	p.R102W	MAGEA11_uc004fdr.3_Missense_Mutation_p.R73W	NM_005366	NP_005357	P43364	MAGAB_HUMAN	Homo sapiens melanoma antigen family A, 11 (MAGEA11), transcript variant 1, mRNA.	102						cytoplasm|nucleus	protein binding			cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	9	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					TCCCACAGTTCGGCCTGCTGA	0.537000														12			175		0	0	1	0	0
OR52I2	143502	broad.mit.edu	37	11	4608254	4608254	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr11:4608254G>A	uc010qyh.2	+	0	234	c.212G>A	c.(211-213)gGa>gAa	p.G71E		NM_001005170	NP_001005170	Q8NH67	O52I2_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily I, member 2 (OR52I2), mRNA.	71					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|pancreas(1)|skin(1)	19		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCCCTGTTAGGAAACACCATC	0.507000														165			108		0	0	1	0	0
NWD1	284434	broad.mit.edu	37	19	16874664	16874664	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr19:16874664C>T	uc002neu.4	+	8	2581	c.2159C>T	c.(2158-2160)tCa>tTa	p.S720L	NWD1_uc002net.4_Missense_Mutation_p.S585L|NWD1_uc002nev.4_Missense_Mutation_p.S514L|NWD1_uc021uqg.1_Missense_Mutation_p.S585L	NM_001007525	NP_001007526	Q149M9	NWD1_HUMAN	Homo sapiens NACHT and WD repeat domain containing 1 (NWD1), mRNA.	720							ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CTGTGGTTCTCACATACGGTT	0.572000														73			66		0	0	1	0	0
PCNXL2	80003	broad.mit.edu	37	1	233314921	233314921	+	Splice_Site	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr1:233314921C>T	uc001hvl.2	-	16	3302	c.3067_splice	c.e16-1	p.E1023_splice	PCNXL2_uc001hvm.1_Splice_Site|PCNXL2_uc009xfu.3_Splice_Site|PCNXL2_uc001hvp.1_Splice_Site|PCNXL2_uc009xfv.1_Splice_Site	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	Homo sapiens pecanex-like 2 (Drosophila) (PCNXL2), transcript variant 1, mRNA.	1023						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				CTCCACGGTTCCTAAAGAAAA	0.507000														46			43		0	0	1	0	0
BACH2	60468	broad.mit.edu	37	6	90660235	90660235	+	Silent	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr6:90660235C>T	uc011eab.2	-	6	2464	c.1590G>A	c.(1588-1590)gaG>gaA	p.E530E	BACH2_uc003pnw.3_Silent_p.E530E|BACH2_uc010kch.3_Silent_p.E530E	NM_021813	NP_068585	Q9BYV9	BACH2_HUMAN	Homo sapiens BTB and CNC homology 1, basic leucine zipper transcription factor 2 (BACH2), transcript variant 1, mRNA.	530						nucleus	protein dimerization activity|sequence-specific DNA binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		CGCTCCCGTCCTCCGCGTAGG	0.617000														71			64		0	0	1	0	0
SOS1	6654	broad.mit.edu	37	2	39250247	39250247	+	Missense_Mutation	SNP	C	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr2:39250247C>A	uc002rrk.4	-	9	1363	c.1322G>T	c.(1321-1323)tGt>tTt	p.C441F	SOS1_uc010ynr.1_Non-coding_Transcript|SOS1_uc002rrj.4_Missense_Mutation_p.C55F|SOS1_uc002rrl.3_Missense_Mutation_p.C173F	NM_005633	NP_005624	Q07889	SOS1_HUMAN	Homo sapiens son of sevenless homolog 1 (Drosophila) (SOS1), mRNA.	441			C -> Y (in NS4).		Ras protein signal transduction|apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	cytosol	DNA binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				AAATTCATTACAACACTGTCC	0.363000									Noonan syndrome					60			40		6.2361e-21	6.31784e-21	1	1	0
PTPRT	11122	broad.mit.edu	37	20	40743865	40743865	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr20:40743865C>T	uc002xkg.3	-	21	3257	c.3073G>A	c.(3073-3075)Gtc>Atc	p.V1025I	PTPRT_uc010ggj.3_Missense_Mutation_p.V1044I|PTPRT_uc010ggi.3_Missense_Mutation_p.V228I	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	1025	Tyrosine-protein phosphatase 1.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GTGCGTATGACGTATTCTGCC	0.522000														77			52		0	0	1	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144873951	144873951	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr1:144873951G>A	uc021ouh.1	-	30	5308	c.5006C>T	c.(5005-5007)gCc>gTc	p.A1669V	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron|PDE4DIP_uc001elw.4_Missense_Mutation_p.A1669V|PDE4DIP_uc001elx.4_Missense_Mutation_p.A1625V|PDE4DIP_uc001elv.4_Missense_Mutation_p.A676V	NM_001198834	NP_001185763	Q5VU43	MYOME_HUMAN	Homo sapiens phosphodiesterase 4D interacting protein (PDE4DIP), transcript variant 9, mRNA.	1669					cellular protein complex assembly	Golgi apparatus|centrosome|myofibril|nucleus	enzyme binding	p.A1669D(3)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GTTGGATTCGGCCTTAGCCCC	0.498000			T	PDGFRB	MPD									602			132		0	0	1	0	0
PRSS3P2	154754	broad.mit.edu	37	7	142479923	142479923	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr7:142479923G>A	uc011ksq.2	+	1	138	c.55G>A	c.(55-57)Gat>Aat	p.D19N	TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TCRBV3S1_uc003wag.2_Intron|BV6S4-BJ2S2_uc003wan.1_Intron|PRSS3P2_uc011ksr.1_Non-coding_Transcript					Homo sapiens protease, serine, 3 pseudogene (TRY6), non-coding RNA.																		TGTCCCCTTTGATGATGATGA	0.547000														196			96		0	0	1	0	0
DCHS2	54798	broad.mit.edu	37	4	155156138	155156138	+	Silent	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr4:155156138C>T	uc003inw.2	-	24	8301	c.8301G>A	c.(8299-8301)acG>acA	p.T2767T		NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	Homo sapiens dachsous 2 (Drosophila) (DCHS2), transcript variant 1, mRNA.	2767					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		GATCAGAGGTCGTCTGAGTTG	0.418000														58			35		0	0	1	0	0
PDE9A	5152	broad.mit.edu	37	21	44188337	44188337	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr21:44188337G>A	uc002zbm.3	+	15	1459	c.1396G>A	c.(1396-1398)Gag>Aag	p.E466K	PDE9A_uc002zbn.3_Missense_Mutation_p.E339K|PDE9A_uc002zbo.3_Missense_Mutation_p.E413K|PDE9A_uc002zbp.3_Missense_Mutation_p.E259K|PDE9A_uc002zbq.3_Missense_Mutation_p.E364K|PDE9A_uc002zbs.3_Missense_Mutation_p.E259K|PDE9A_uc002zbr.3_Missense_Mutation_p.E259K|PDE9A_uc002zbt.3_Missense_Mutation_p.E338K|PDE9A_uc002zbu.3_Missense_Mutation_p.E332K|PDE9A_uc002zbv.3_Missense_Mutation_p.E306K|PDE9A_uc002zbw.3_Missense_Mutation_p.E249K|PDE9A_uc002zbx.3_Missense_Mutation_p.E406K|PDE9A_uc002zby.3_Missense_Mutation_p.E249K|PDE9A_uc002zbz.3_Missense_Mutation_p.E358K|PDE9A_uc002zca.3_Missense_Mutation_p.E425K|PDE9A_uc002zcb.3_Missense_Mutation_p.E440K|PDE9A_uc002zcc.3_Missense_Mutation_p.E365K|PDE9A_uc002zcd.3_Missense_Mutation_p.E380K|PDE9A_uc002zce.3_Missense_Mutation_p.E399K|PDE9A_uc002zcf.3_Missense_Mutation_p.E259K|PDE9A_uc002zcg.3_Missense_Mutation_p.E259K	NM_002606	NP_001001585	O76083	PDE9A_HUMAN	Homo sapiens phosphodiesterase 9A (PDE9A), transcript variant 1, mRNA.	466	Catalytic (By similarity).				platelet activation|signal transduction	Golgi apparatus|cytosol|endoplasmic reticulum|perinuclear region of cytoplasm|ruffle membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding|protein binding			breast(1)|endometrium(4)|large_intestine(6)|lung(8)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27						TATCTCTAACGAGGTCCGTCC	0.453000														40			22		0	0	1	0	0
T	6862	broad.mit.edu	37	6	166571907	166571907	+	Missense_Mutation	SNP	C	T	T	rs34517945	byFrequency	TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr6:166571907C>T	uc003qut.1	-	7	1493	c.1207G>A	c.(1207-1209)Gaa>Aaa	p.E403K	T_uc003quu.1_Missense_Mutation_p.E402K|T_uc003quv.1_Missense_Mutation_p.E344K	NM_003181	NP_003172	O15178	BRAC_HUMAN	Homo sapiens T, brachyury homolog (mouse) (T), mRNA.	402					anterior/posterior axis specification, embryo|mesoderm development|primitive streak formation	nucleus	sequence-specific DNA binding transcription factor activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559)		OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407)		GCCGCCCCTTCGTACAGTGGG	0.682000									Chordoma, Familial Clustering of					97			97		0	0	1	0	0
ATP1A4	480	broad.mit.edu	37	1	160143991	160143991	+	Silent	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr1:160143991C>T	uc001fve.4	+	13	2561	c.2082C>T	c.(2080-2082)atC>atT	p.I694I	ATP1A4_uc001fvf.4_Non-coding_Transcript|ATP1A4_uc001fvg.3_Silent_p.I197I	NM_144699	NP_653300	Q13733	AT1A4_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 4 polypeptide (ATP1A4), transcript variant 1, mRNA.	694					ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			accctgagatcgtgtttgctc	0.527000														86			36		0	0	1	0	0
IL18R1	8809	broad.mit.edu	37	2	102988441	102988441	+	Missense_Mutation	SNP	G	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr2:102988441G>T	uc002tbw.4	+	3	481	c.331G>T	c.(331-333)Gtc>Ttc	p.V111F	IL18R1_uc010ywb.1_Missense_Mutation_p.V111F|IL18R1_uc010ywd.2_5'UTR|IL18R1_uc010fiy.3_Missense_Mutation_p.V111F|IL18R1_uc010ywc.2_Missense_Mutation_p.V111F	NM_003855	NP_003846	Q13478	IL18R_HUMAN	Homo sapiens interleukin 18 receptor 1 (IL18R1), mRNA.	111	Ig-like C2-type 1.				innate immune response	integral to membrane|plasma membrane	interleukin-1 receptor activity			breast(1)|endometrium(3)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						GAAATTAAATGTCATCAGAAG	0.284000														7			4		0.00024832	0.000248964	1	1	0
VWC2	375567	broad.mit.edu	37	7	49842382	49842382	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr7:49842382G>A	uc003tot.1	+	2	1328	c.772G>A	c.(772-774)Gag>Aag	p.E258K		NM_198570	NP_940972	Q2TAL6	VWC2_HUMAN	Homo sapiens von Willebrand factor C domain containing 2 (VWC2), mRNA.	258	VWFC 2.				negative regulation of BMP signaling pathway|positive regulation of neuron differentiation	basement membrane|extracellular space				cervix(1)|endometrium(2)|large_intestine(1)|lung(3)|prostate(1)	8						TCCCCAGACGGAGTGTGTGGA	0.567000														84			60		0	0	1	0	0
DUSP13	51207	broad.mit.edu	37	10	76855379	76855379	+	Missense_Mutation	SNP	A	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr10:76855379A>T	uc001jwr.3	-	2	411	c.348T>A	c.(346-348)ttT>ttA	p.F116L	DUSP13_uc001jws.3_3'UTR|DUSP13_uc001jwu.3_Missense_Mutation_p.F209L|DUSP13_uc001jww.3_Missense_Mutation_p.F166L|DUSP13_uc009xrs.3_Missense_Mutation_p.F209L|DUSP13_uc001jwt.3_Missense_Mutation_p.F209L|DUSP13_uc001jwv.3_Missense_Mutation_p.F116L	NM_016364	NP_057448	Q6B8I1	MDSP_HUMAN	Homo sapiens dual specificity phosphatase 13 (DUSP13), transcript variant 6, mRNA.	107	Tyrosine-protein phosphatase.					cytoplasm	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	8	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					CAACAGGCAGAAAGTAGACAC	0.557000														108			98		0	0	1	0	0
TRIM58	25893	broad.mit.edu	37	1	248028006	248028006	+	Splice_Site	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr1:248028006G>A	uc001ido.3	+	3	565	c.517_splice	c.e3-1	p.E173_splice		NM_015431	NP_056246	Q8NG06	TRI58_HUMAN	Homo sapiens tripartite motif containing 58 (TRIM58), mRNA.	173						intracellular	zinc ion binding	p.?(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TGTCACCTCAGGAGAAAGTGG	0.582000														37			17		0	0	1	0	0
LY6E	4061	broad.mit.edu	37	8	144103150	144103150	+	Missense_Mutation	SNP	C	G	G			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr8:144103150C>G	uc003yxn.2	+	3	494	c.340C>G	c.(340-342)Ctg>Gtg	p.L114V	LY6E_uc003yxm.2_Missense_Mutation_p.L114V|LY6E_uc003yxo.2_Non-coding_Transcript	NM_001127213	NP_002337	Q16553	LY6E_HUMAN	Homo sapiens lymphocyte antigen 6 complex, locus E (LY6E), transcript variant 2, mRNA.	114					cell surface receptor linked signaling pathway	anchored to membrane|integral to plasma membrane				endometrium(1)|kidney(3)|large_intestine(2)|lung(1)	7	all_cancers(97;1.94e-10)|all_epithelial(106;1.22e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					CGTCACCCTGCTGGGTGCCGG	0.662000														92			47		0	0	1	0	0
OR4N5	390437	broad.mit.edu	37	14	20612023	20612023	+	Silent	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr14:20612023C>T	uc010tla.2	+	0	129	c.129C>T	c.(127-129)ttC>ttT	p.F43F		NM_001004724	NP_001004724	Q8IXE1	OR4N5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily N, member 5 (OR4N5), mRNA.	43					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)		CTGGAAATTTCCTCATCATTT	0.448000														136			143		0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	137917861	137917861	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr2:137917861C>T	uc002tva.1	+	4	1355	c.1355C>T	c.(1354-1356)aCg>aTg	p.T452M	THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.3_Missense_Mutation_p.T342M	NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		CCTTGCTCTACGGACTGCATA	0.522000														58			40		0	0	1	0	0
PROSER1	80209	broad.mit.edu	37	13	39587014	39587014	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr13:39587014G>A	uc001uwy.3	-	10	3248	c.2375C>T	c.(2374-2376)tCt>tTt	p.S792F	PROSER1_uc001uwz.3_Missense_Mutation_p.S770F	NM_025138	NP_079414	Q86XN7	CM023_HUMAN	Homo sapiens proline and serine rich 1 (PROSER1), transcript variant 1, mRNA.	792	Ser-rich.																ATTAGAGACAGAAAAGCCTGG	0.557000														148			95		0	0	1	0	0
NPC1	4864	broad.mit.edu	37	18	21125051	21125051	+	Missense_Mutation	SNP	C	G	G			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr18:21125051C>G	uc002kum.4	-	11	2094	c.1820G>C	c.(1819-1821)cGa>cCa	p.R607P	NPC1_uc010xaz.2_Missense_Mutation_p.R340P|NPC1_uc010xba.1_Missense_Mutation_p.R452P	NM_000271	NP_000262	O15118	NPC1_HUMAN	Homo sapiens Niemann-Pick disease, type C1 (NPC1), mRNA.	607					autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport	endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm	hedgehog receptor activity|protein binding|sterol transporter activity	p.R607Q(2)		breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					TTCAATACTTCGTTCAGCAGT	0.338000														26			27		0	0	1	0	0
PDZD2	23037	broad.mit.edu	37	5	32088112	32088112	+	Silent	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr5:32088112C>T	uc003jhl.3	+	19	4946	c.4558C>T	c.(4558-4560)Ctg>Ttg	p.L1520L	PDZD2_uc003jhm.3_Silent_p.L1520L	NM_178140	NP_835260	O15018	PDZD2_HUMAN	Homo sapiens PDZ domain containing 2 (PDZD2), mRNA.	1520					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						CAAAAACTTTCTGAGCAACTA	0.493000														32			30		0	0	1	0	0
EMILIN3	90187	broad.mit.edu	37	20	39992463	39992463	+	Missense_Mutation	SNP	T	C	C			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr20:39992463T>C	uc002xjy.1	-	2	553	c.329A>G	c.(328-330)tAc>tGc	p.Y110C		NM_052846	NP_443078	Q9NT22	EMIL3_HUMAN	Homo sapiens elastin microfibril interfacer 3 (EMILIN3), mRNA.	110	EMI.					proteinaceous extracellular matrix				biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(3)|urinary_tract(2)	30		Myeloproliferative disorder(115;0.00425)				CACTGTCTTGTAGCCAACCTT	0.622000														90			56		0	0	1	0	0
TFE3	7030	broad.mit.edu	37	X	48887770	48887770	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chrX:48887770G>A	uc004dmb.3	-	9	1865	c.1627C>T	c.(1627-1629)Cca>Tca	p.P543S	TFE3_uc004dmc.3_Missense_Mutation_p.P438S	NM_006521	NP_006512	P19532	TFE3_HUMAN	Homo sapiens transcription factor binding to IGHM enhancer 3 (TFE3), mRNA.	543					humoral immune response|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding		NONO/TFE3(2)|PRCC/TFE3(25)|SFPQ/TFE3(6)|CLTC/TFE3(2)|ASPSCR1/TFE3(167)	central_nervous_system(1)	1						GCCCGCAGTGGGGACAGGGCA	0.672000			T	"""SFPQ, ASPSCR1, PRCC, NONO, CLTC"""	"""papillary renal, alveolar soft part sarcoma, renal"""									6			46		0	0	1	0	0
OR10W1	81341	broad.mit.edu	37	11	58034558	58034558	+	Missense_Mutation	SNP	T	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr11:58034558T>A	uc001nmq.1	-	0	1175	c.773A>T	c.(772-774)aAc>aTc	p.N258I		NM_207374	NP_997257	Q8NGF6	O10W1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily W, member 1 (OR10W1), mRNA.	258					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(1)	26		Breast(21;0.0589)				TTGCTTGGGGTTGTAGCTGGA	0.572000														93			75		0	0	1	0	0
HERC1	8925	broad.mit.edu	37	15	63948502	63948503	+	Nonsense_Mutation	DNP	GG	AA	AA			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr15:63948502_63948503GG>AA	uc002amp.3	-	48	9802_9803	c.9654_9655CC>TT	c.(9652-9657)atccga>atTTga	p.R3219*		NM_003922	NP_003913	Q15751	HERC1_HUMAN	Homo sapiens hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1 (HERC1), mRNA.	3219					protein modification process|transport	Golgi apparatus|cytosol|membrane	ARF guanyl-nucleotide exchange factor activity|acid-amino acid ligase activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						ACTAGCGTTCGGATATCTGTTA	0.510000														45			47		0	0	1	0	0
SSR2	6746	broad.mit.edu	37	1	155989821	155989821	+	Silent	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr1:155989821G>A	uc001fmx.3	-	1	218	c.138C>T	c.(136-138)atC>atT	p.I46I	SSR2_uc010pgw.2_Silent_p.I65I	NM_003145	NP_003136	P43308	SSRB_HUMAN	Homo sapiens signal sequence receptor, beta (translocon-associated protein beta) (SSR2), mRNA.	46				I -> T (in Ref. 6; BAD96320).	cotranslational protein targeting to membrane	endoplasmic reticulum membrane|integral to membrane	signal sequence binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|stomach(1)	10	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					CAACATTGTAGATGTTGTACT	0.483000														98			37		0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92532310	92532310	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr11:92532310G>A	uc001pdj.4	+	8	6148	c.6131G>A	c.(6130-6132)cGt>cAt	p.R2044H		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	2044	Cadherin 18.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CCCTTTGACCGTGAAGAACAA	0.463000										TCGA Ovarian(4;0.039)				89			7		0	0	1	0	0
BFAR	51283	broad.mit.edu	37	16	14742418	14742419	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr16:14742418_14742419CC>TT	uc002dco.3	+	2	718_719	c.437_438CC>TT	c.(436-438)tcc>tTT	p.S146F	BFAR_uc010uzh.2_Intron	NM_016561	NP_057645	Q9NZS9	BFAR_HUMAN	Homo sapiens bifunctional apoptosis regulator (BFAR), mRNA.	146					anti-apoptosis|apoptosis	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	structural molecule activity|zinc ion binding	p.S146S(2)		endometrium(4)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)	11						GGATTCTTTTCCGGTGTGCTCA	0.520000														104			52		0	0	1	0	0
PPP1R9A	55607	broad.mit.edu	37	7	94740616	94740616	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr7:94740616G>A	uc003unp.3	+	2	1723	c.1441G>A	c.(1441-1443)Gaa>Aaa	p.E481K	PPP1R9A_uc010lfj.3_Missense_Mutation_p.E481K|PPP1R9A_uc011kif.2_Missense_Mutation_p.E481K|PPP1R9A_uc003unq.3_Missense_Mutation_p.E481K|PPP1R9A_uc011kig.2_Missense_Mutation_p.E481K	NM_017650	NP_060120	Q9ULJ8	NEB1_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 9A (PPP1R9A), transcript variant 4, mRNA.	481	Interacts with protein phosphatase 1 (By similarity).					cell junction|synapse|synaptosome	actin binding	p.E481K(2)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			GAGAAATGACGAAGTTGACCC	0.418000										HNSCC(28;0.073)				29			23		0	0	1	0	0
GPR139	124274	broad.mit.edu	37	16	20043447	20043447	+	Silent	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr16:20043447C>T	uc002dgu.1	-	1	834	c.672G>A	c.(670-672)ggG>ggA	p.G224G	GPR139_uc010vaw.1_Silent_p.G131G	NM_001002911	NP_001002911	Q6DWJ6	GP139_HUMAN	Homo sapiens G protein-coupled receptor 139 (GPR139), mRNA.	224						integral to membrane|plasma membrane				autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						CGGTGGTCTTCCCCGTGGAGT	0.522000														113			83		0	0	1	0	0
YEATS2	55689	broad.mit.edu	37	3	183469917	183469917	+	Silent	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr3:183469917G>A	uc003fly.2	+	9	1221	c.1026G>A	c.(1024-1026)caG>caA	p.Q342Q		NM_018023	NP_060493	Q9ULM3	YETS2_HUMAN	Homo sapiens YEATS domain containing 2 (YEATS2), mRNA.	342					histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			TCTATCCTCAGTCCTCGGAGT	0.483000														90			70		0	0	1	0	0
ARPP21	10777	broad.mit.edu	37	3	35758831	35758832	+	Missense_Mutation	DNP	AG	TA	TA			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr3:35758831_35758832AG>TA	uc011axy.2	+	10	1087_1088	c.875_876AG>TA	c.(874-876)aag>aTA	p.K292I	ARPP21_uc003cga.3_Intron|ARPP21_uc003cgb.3_Missense_Mutation_p.K326I|ARPP21_uc003cgf.3_Missense_Mutation_p.K127I	NM_016300	NP_057384	Q9UBL0	ARP21_HUMAN	Homo sapiens cAMP-regulated phosphoprotein, 21kDa (ARPP21), transcript variant 1, mRNA.	326						cytoplasm	nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						GAGACCTATAAGAAAAGACAGC	0.322000														28			33		0	0	1	0	0
TPO	7173	broad.mit.edu	37	2	1418231	1418231	+	Silent	SNP	A	G	G			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr2:1418231A>G	uc002qwr.3	+	1	137	c.51A>G	c.(49-51)gaA>gaG	p.E17E	TPO_uc010ewj.3_Intron|TPO_uc010yin.1_Silent_p.E17E|TPO_uc002qww.3_Silent_p.E17E|TPO_uc002qwx.3_Silent_p.E17E|TPO_uc002qwu.3_Silent_p.E17E|TPO_uc010yio.2_Silent_p.E17E|TPO_uc010yip.2_Silent_p.E17E	NM_001206744	NP_001193673	P07202	PERT_HUMAN	Homo sapiens thyroid peroxidase (TPO), transcript variant 6, mRNA.	17					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	CCTGCACAGAAGCCTTCTTCC	0.463000														21			15		0	0	1	0	0
ALDOB	229	broad.mit.edu	37	9	104192121	104192121	+	Silent	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr9:104192121G>A	uc004bbk.2	-	2	322	c.240C>T	c.(238-240)ttC>ttT	p.F80F		NM_000035	NP_000026	P05062	ALDOB_HUMAN	Homo sapiens aldolase B, fructose-bisphosphate (ALDOB), mRNA.	80					NADH oxidation|fructose 1,6-bisphosphate metabolic process|fructose catabolic process|gluconeogenesis|glycolysis|positive regulation of ATPase activity|vacuolar proton-transporting V-type ATPase complex assembly	centriolar satellite|cytosol	ATPase binding|cytoskeletal protein binding|fructose binding|fructose-bisphosphate aldolase activity|identical protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(5)|prostate(2)|skin(4)|urinary_tract(1)	24		Acute lymphoblastic leukemia(62;0.0559)				GGGTCTCGTGGAAAAGGATCA	0.517000														15			140		0	0	1	0	0
SLC22A2	6582	broad.mit.edu	37	6	160679408	160679409	+	Missense_Mutation	DNP	AC	TT	TT			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr6:160679408_160679409AC>TT	uc003qtf.3	-	0	555_556	c.381_382GT>AA	c.(379-384)gtgtac>gtAAac	p.Y128N	SLC22A2_uc003qth.2_Missense_Mutation_p.Y128N	NM_003058	NP_003049	O15244	S22A2_HUMAN	Homo sapiens solute carrier family 22 (organic cation transporter), member 2 (SLC22A2), mRNA.	128					body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion	integral to plasma membrane|membrane fraction	neurotransmitter transporter activity|organic cation transmembrane transporter activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)		GGCGTCTCGTACACCCAGCCGT	0.619000														79			46		0	0	1	0	0
C6orf58	352999	broad.mit.edu	37	6	127898343	127898343	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr6:127898343C>T	uc003qbh.3	+	0	25	c.13C>T	c.(13-15)Cct>Tct	p.P5S		NM_001010905	NP_001010905	Q6P5S2	CF058_HUMAN	Homo sapiens chromosome 6 open reading frame 58 (C6orf58), mRNA.	5						extracellular region				kidney(3)|large_intestine(3)|liver(1)|lung(7)|pancreas(1)	15				GBM - Glioblastoma multiforme(226;0.0405)|all cancers(137;0.156)		GGCTTTTCTTCCTTCCTGGGT	0.488000														53			51		0	0	1	0	0
PXDNL	137902	broad.mit.edu	37	8	52387609	52387609	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr8:52387609G>A	uc003xqu.4	-	6	718	c.617C>T	c.(616-618)gCt>gTt	p.A206V		NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	Homo sapiens peroxidasin homolog (Drosophila)-like (PXDNL), mRNA.	206	LRRCT.				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	p.A206V(1)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				GGTAGCCGCAGCCTGGGTGTG	0.522000														29			27		0	0	1	0	0
NLRP10	338322	broad.mit.edu	37	11	7981342	7981342	+	Missense_Mutation	SNP	C	G	G			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr11:7981342C>G	uc001mfv.1	-	1	1834	c.1817G>C	c.(1816-1818)aGc>aCc	p.S606T		NM_176821	NP_789791	Q86W26	NAL10_HUMAN	Homo sapiens NLR family, pyrin domain containing 10 (NLRP10), mRNA.	606							ATP binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		ACTCAAGCTGCTTTTGACAGA	0.368000														32			25		0	0	1	0	0
SLC7A13	157724	broad.mit.edu	37	8	87241983	87241983	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr8:87241983G>A	uc003ydq.1	-	0	622	c.524C>T	c.(523-525)tCc>tTc	p.S175F	SLC7A13_uc003ydr.1_Missense_Mutation_p.S175F	NM_138817	NP_620172	Q8TCU3	S7A13_HUMAN	Homo sapiens solute carrier family 7 (anionic amino acid transporter), member 13 (SLC7A13), mRNA.	175						integral to membrane	amino acid transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						TCCAGTTAGGGAAATGAAGCT	0.408000														59			55		0	0	1	0	0
PLCXD3	345557	broad.mit.edu	37	5	41382221	41382221	+	Silent	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr5:41382221C>T	uc003jmm.1	-	1	621	c.519G>A	c.(517-519)gcG>gcA	p.A173A		NM_001005473	NP_001005473	Q63HM9	PLCX3_HUMAN	Homo sapiens phosphatidylinositol-specific phospholipase C, X domain containing 3 (PLCXD3), mRNA.	173	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						GGGCAAAAATCGCTGGGCACA	0.428000														95			58		0	0	1	0	0
LRRCC1	85444	broad.mit.edu	37	8	86044157	86044157	+	Silent	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr8:86044157C>T	uc003ycw.3	+	11	2137	c.1929C>T	c.(1927-1929)ttC>ttT	p.F643F	LRRCC1_uc010lzz.2_Non-coding_Transcript|LRRCC1_uc022awx.1_Silent_p.F550F|LRRCC1_uc010maa.2_Silent_p.F344F|LRRCC1_uc003ycy.3_Silent_p.F623F	NM_033402	NP_208325	Q9C099	LRCC1_HUMAN	Homo sapiens leucine rich repeat and coiled-coil domain containing 1 (LRRCC1), mRNA.	643					cell division|mitosis	centriole|nucleus				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						AAAATGAATTCCGTATTGCTT	0.333000														34			18		0	0	1	0	0
TEKT4	150483	broad.mit.edu	37	2	95537633	95537634	+	Missense_Mutation	DNP	GG	AA	AA	rs111669261	by1000genomes	TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr2:95537633_95537634GG>AA	uc002stw.1	+	0	402_403	c.309_310GG>AA	c.(307-312)tcggag>tcAAag	p.E104K	LOC442028_uc021vlc.1_Non-coding_Transcript|LOC442028_uc002stv.1_Intron|TEKT4_uc010fhr.1_Non-coding_Transcript	NM_144705	NP_653306	Q8WW24	TEKT4_HUMAN	Homo sapiens tektin 4 (TEKT4), mRNA.	104					cell projection organization|microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule		p.S103S(2)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	28						GCTGGAAGTCGGAGCTGCAGCG	0.678000														18			13		0	0	1	0	0
ITIH2	3698	broad.mit.edu	37	10	7769001	7769001	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr10:7769001G>A	uc001ijs.3	+	9	1235	c.1073G>A	c.(1072-1074)tGg>tAg	p.W358*		NM_002216	NP_002207	P19823	ITIH2_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain 2 (ITIH2), mRNA.	358	VWFA.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						ATTCGAACTTGGAGAAATGAT	0.403000														41			38		0	0	1	0	0
TECTA	7007	broad.mit.edu	37	11	121023723	121023723	+	Silent	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr11:121023723C>T	uc010rzo.2	+	11	4239	c.4239C>T	c.(4237-4239)gtC>gtT	p.V1413V		NM_005422	NP_005413	O75443	TECTA_HUMAN	Homo sapiens tectorin alpha (TECTA), mRNA.	1413	TIL 3.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		CTGGCTACGTCCTCAACGGCA	0.637000														43			32		0	0	1	0	0
ZNF669	79862	broad.mit.edu	37	1	247265089	247265089	+	Silent	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr1:247265089G>A	uc001ice.2	-	2	566	c.393C>T	c.(391-393)agC>agT	p.S131S	ZNF669_uc001icf.2_Silent_p.S45S	NM_024804	NP_079080	Q96BR6	ZN669_HUMAN	Homo sapiens zinc finger protein 669 (ZNF669), transcript variant 1, mRNA.	131	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G130V(2)|p.G130G(1)		breast(2)|endometrium(3)|kidney(4)|large_intestine(2)|lung(6)	17	all_cancers(71;4.09e-05)|all_epithelial(71;6.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0283)|all_lung(81;0.0488)|Lung NSC(105;0.053)		OV - Ovarian serous cystadenocarcinoma(106;0.00427)			CTTTCCATTGGCTTCCTAAAA	0.363000														50			14		0	0	1	0	0
GRN	2896	broad.mit.edu	37	17	42428086	42428086	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr17:42428086C>T	uc002igp.1	+	6	845	c.626C>T	c.(625-627)cCg>cTg	p.P209L	GRN_uc002igq.1_3'UTR	NM_002087	NP_002078	P28799	GRN_HUMAN	Homo sapiens granulin (GRN), mRNA.	209					signal transduction	extracellular space	cytokine activity|growth factor activity			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		GTCATGTGTCCGGACGCACGG	0.597000											OREG0024459	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		64			55		0	0	1	0	0
TTC3	7267	broad.mit.edu	37	21	38525559	38525559	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr21:38525559C>T	uc002yvz.3	+	26	2827	c.2722C>T	c.(2722-2724)Caa>Taa	p.Q908*	TTC3_uc011aee.1_Nonsense_Mutation_p.Q598*|TTC3_uc002ywa.3_Nonsense_Mutation_p.Q908*|TTC3_uc002ywb.3_Nonsense_Mutation_p.Q908*|TTC3_uc010gnf.3_Nonsense_Mutation_p.Q673*|TTC3_uc002ywc.3_Nonsense_Mutation_p.Q598*|TTC3_uc011aed.1_Nonsense_Mutation_p.Q598*	NM_001001894	NP_003307	P53804	TTC3_HUMAN	Homo sapiens tetratricopeptide repeat domain 3 (TTC3), transcript variant 2, mRNA.	908					protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				CGCCTGGATCCAAAAACTTAA	0.383000														38			27		0	0	1	0	0
OR9Q1	219956	broad.mit.edu	37	11	57946977	57946977	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr11:57946977C>T	uc021qjm.1	+	0	61	c.61C>T	c.(61-63)Cct>Tct	p.P21S	OR9Q1_uc001nmj.3_Missense_Mutation_p.P21S	NM_001005212	NP_001005212	Q8NGQ5	OR9Q1_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily Q, member 1 (OR9Q1), mRNA.	21					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Breast(21;0.222)				CACTGAATATCCTGAATGGGC	0.448000														68			68		0	0	1	0	0
CHD5	26038	broad.mit.edu	37	1	6204140	6204140	+	Silent	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr1:6204140G>A	uc001amb.2	-	11	1989	c.1878C>T	c.(1876-1878)atC>atT	p.I626I	CHD5_uc001ama.2_Non-coding_Transcript|CHD5_uc001amc.1_Non-coding_Transcript	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 5 (CHD5), mRNA.	626	Chromo 2.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		CGATGTCATCGATCTCCCAGG	0.592000														28			114		0	0	1	0	0
SOX17	64321	broad.mit.edu	37	8	55371774	55371774	+	Missense_Mutation	SNP	T	C	C			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr8:55371774T>C	uc003xsb.4	+	1	668	c.464T>C	c.(463-465)tTc>tCc	p.F155S		NM_022454	NP_071899	Q9H6I2	SOX17_HUMAN	Homo sapiens SRY (sex determining region Y)-box 17 (SOX17), mRNA.	155					Wnt receptor signaling pathway|angiogenesis|cardiac cell fate determination|endocardial cell differentiation|endocardium formation|endoderm formation|heart formation|heart looping|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|outflow tract morphogenesis|positive regulation of transcription, DNA-dependent|protein destabilization|protein stabilization|regulation of embryonic development|renal system development|vasculogenesis	transcription factor complex	beta-catenin binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription factor binding|transcription regulatory region DNA binding			endometrium(6)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)	18		Lung NSC(129;0.109)|all_epithelial(80;0.176)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;1.9e-07)|Epithelial(17;1.7e-05)|all cancers(17;0.000159)			GAGGGCGGCTTCCTGCACGGC	0.741000														13			6		0	0	1	0	0
ZNF121	7675	broad.mit.edu	37	19	9677524	9677524	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr19:9677524C>T	uc010xkp.1	-	3	497	c.265G>A	c.(265-267)Gaa>Aaa	p.E89K	ZNF121_uc010dwt.2_Missense_Mutation_p.E89K|ZNF121_uc010xkq.1_Missense_Mutation_p.E89K	NM_001008727	NP_001008727	P58317	ZN121_HUMAN	Homo sapiens zinc finger protein 121 (ZNF121), mRNA.	89					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|kidney(4)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)	24						TCACTGTATTCAAAGGATTTG	0.448000														51			33		0	0	1	0	0
MYH11	4629	broad.mit.edu	37	16	15835403	15835403	+	Nonsense_Mutation	SNP	C	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr16:15835403C>A	uc002ddx.3	-	22	2904	c.2797G>T	c.(2797-2799)Gag>Tag	p.E933*	MYH11_uc002ddv.3_Nonsense_Mutation_p.E933*|MYH11_uc002ddw.3_Nonsense_Mutation_p.E926*|MYH11_uc002ddy.3_Nonsense_Mutation_p.E926*|MYH11_uc010bvg.3_Nonsense_Mutation_p.E758*	NM_001040114	NP_001035203	P35749	MYH11_HUMAN	Homo sapiens myosin, heavy chain 11, smooth muscle (MYH11), transcript variant SM1B, mRNA.	926					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	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle	p.E932E(1)		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						GCCTCCATCTCATGCAGTATC	0.607000			T	CBFB	AML									162			121		1.34936e-44	1.37606e-44	1	1	0
CHRNE	1145	broad.mit.edu	37	17	4805556	4805556	+	Silent	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr17:4805556G>A	uc002fzk.1	-	3	311	c.300C>T	c.(298-300)gtC>gtT	p.V100V	C17orf107_uc002fzl.3_3'UTR	NM_000080	NP_000071	Q04844	ACHE_HUMAN	Homo sapiens cholinergic receptor, nicotinic, epsilon (CHRNE), mRNA.	100					muscle contraction|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	p.R99*(1)		central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)	12						GTTCTGAAGGGACTCGCAGGG	0.612000														113			93		0	0	1	0	0
DHODH	1723	broad.mit.edu	37	16	72055179	72055179	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr16:72055179G>A	uc002fbp.3	+	4	695	c.674G>A	c.(673-675)gGa>gAa	p.G225E		NM_001361	NP_001352	Q02127	PYRD_HUMAN	Homo sapiens dihydroorotate dehydrogenase (quinone) (DHODH), nuclear gene encoding mitochondrial protein, mRNA.	225					'de novo' pyrimidine base biosynthetic process|UMP biosynthetic process|pyrimidine nucleoside biosynthetic process	integral to membrane|mitochondrial inner membrane	dihydroorotate oxidase activity			breast(1)|endometrium(2)|large_intestine(4)|ovary(1)|skin(1)|stomach(1)	10		Ovarian(137;0.125)			Atovaquone(DB01117)|Leflunomide(DB01097)	AGCCTTCAGGGAAAGGCCGAG	0.672000														16			12		0	0	1	0	0
SPAG16	79582	broad.mit.edu	37	2	214354720	214354721	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr2:214354720_214354721CC>TT	uc002veq.3	+	9	1068_1069	c.976_977CC>TT	c.(976-978)cca>TTa	p.P326L	SPAG16_uc010fuz.2_Missense_Mutation_p.P177L|SPAG16_uc002ver.3_Missense_Mutation_p.P272L|SPAG16_uc010zjk.2_Missense_Mutation_p.P232L	NM_024532	NP_078808	Q8N0X2	SPG16_HUMAN	Homo sapiens sperm associated antigen 16 (SPAG16), transcript variant 1, mRNA.	326					cilium assembly	cilium axoneme|flagellar axoneme				endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		GCAACCAAATCCAAACCTGAAT	0.351000														19			22		0	0	1	0	0
ERN2	10595	broad.mit.edu	37	16	23702456	23702456	+	Silent	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr16:23702456C>T	uc002dma.4	-	20	2875	c.2706G>A	c.(2704-2706)agG>agA	p.R902R	ERN2_uc010bxp.3_Silent_p.R850R	NM_033266	NP_150296	Q76MJ5	ERN2_HUMAN	Homo sapiens endoplasmic reticulum to nucleus signaling 2 (ERN2), mRNA.	854	KEN.				apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		ATACCTTGTTCCTCACAGCAC	0.582000														176			129		0	0	1	0	0
GPR65	8477	broad.mit.edu	37	14	88477276	88477276	+	Missense_Mutation	SNP	A	C	C			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr14:88477276A>C	uc021rxh.1	+	0	85	c.85A>C	c.(85-87)Att>Ctt	p.I29L	GPR65_uc001xvv.3_Missense_Mutation_p.I29L	NM_003608	NP_003599	Q8IYL9	PSYR_HUMAN	Homo sapiens G protein-coupled receptor 65 (GPR65), mRNA.	29					actin cytoskeleton reorganization|activation of Rho GTPase activity|apoptosis|immune response|multicellular organismal development|positive regulation of cAMP biosynthetic process|positive regulation of stress fiber assembly|response to acidity	integral to plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)	16						TATAGTCAGCATTCCAGCCAA	0.368000														36			33		0	0	1	0	0
VRTN	55237	broad.mit.edu	37	14	74824579	74824579	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr14:74824579C>T	uc021rwl.1	+	0	1093	c.1093C>T	c.(1093-1095)Ccc>Tcc	p.P365S	VRTN_uc001xpw.4_Missense_Mutation_p.P365S	NM_018228	NP_060698	Q9H8Y1	VRTN_HUMAN	Homo sapiens vertebrae development homolog (pig) (VRTN), mRNA.	365					transposition, DNA-mediated		DNA binding|transposase activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						GGCCTTGCCCCCCAGGGAGGT	0.652000														43			30		0	0	1	0	0
FBXL14	144699	broad.mit.edu	37	12	1702919	1702919	+	Missense_Mutation	SNP	T	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr12:1702919T>A	uc001qjh.3	-	0	413	c.314A>T	c.(313-315)gAc>gTc	p.D105V	WNT5B_uc009zdq.3_Intron	NM_152441	NP_689654	Q8N1E6	FXL14_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 14 (FBXL14), mRNA.	105						cytoplasm				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	8	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00115)			CAGCCCGTTGTCGGTGAGGTT	0.637000														70			61		0	0	1	0	0
HACE1	57531	broad.mit.edu	37	6	105198250	105198250	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr6:105198250G>A	uc003pqu.1	-	19	2586	c.2309C>T	c.(2308-2310)cCc>cTc	p.P770L	HACE1_uc010kcy.1_Missense_Mutation_p.P252L|HACE1_uc010kcz.1_Missense_Mutation_p.P555L|HACE1_uc010kcx.1_Missense_Mutation_p.P179L|HACE1_uc003pqt.1_Missense_Mutation_p.P423L	NM_020771	NP_065822	Q8IYU2	HACE1_HUMAN	Homo sapiens HECT domain and ankyrin repeat containing, E3 ubiquitin protein ligase 1 (HACE1), mRNA.	770	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	endoplasmic reticulum	ubiquitin-protein ligase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	44		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)		BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204)		TATGAGGGAGGGTGGAATGAA	0.388000														16			8		0	0	1	0	0
TRIM48	79097	broad.mit.edu	37	11	55033125	55033125	+	Missense_Mutation	SNP	A	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr11:55033125A>T	uc010rid.2	+	2	595	c.509A>T	c.(508-510)aAt>aTt	p.N170I		NM_024114	NP_077019	Q8IWZ4	TRI48_HUMAN	Homo sapiens tripartite motif containing 48 (TRIM48), mRNA.	154						intracellular	zinc ion binding	p.K169N(1)		endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						GCTTGTGAAAATCAGAGAAAC	0.408000														3			23		0	0	1	0	0
ZNF142	7701	broad.mit.edu	37	2	219507792	219507793	+	Missense_Mutation	DNP	GG	AA	AA	rs150124453	by1000genomes	TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr2:219507792_219507793GG>AA	uc002vin.3	-	7	3882_3883	c.3446_3447CC>TT	c.(3445-3447)gcc>gTT	p.A1149V	ZNF142_uc002vil.3_Missense_Mutation_p.A1110V|ZNF142_uc010fvt.3_Missense_Mutation_p.A986V|ZNF142_uc002vim.3_Missense_Mutation_p.A986V	NM_001105537	NP_001099007	P52746	ZN142_HUMAN	Homo sapiens zinc finger protein 142 (ZNF142), mRNA.	1149					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			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)		GGAGCCTTAAGGCAGTGGCAGC	0.649000														19			28		0	0	1	0	0
PTPRE	5791	broad.mit.edu	37	10	129869092	129869092	+	Silent	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr10:129869092C>T	uc009yat.3	+	15	1764	c.1347C>T	c.(1345-1347)atC>atT	p.I449I	PTPRE_uc001lkb.3_Silent_p.I438I|PTPRE_uc009yau.2_Silent_p.I438I|PTPRE_uc001lkd.3_Silent_p.I380I|PTPRE_uc010quq.1_Silent_p.I339I	NM_006504	NP_006495	P23469	PTPRE_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, E (PTPRE), transcript variant 1, mRNA.	438	Tyrosine-protein phosphatase 2.				negative regulation of insulin receptor signaling pathway|protein phosphorylation	cytoplasm|integral to membrane|intermediate filament cytoskeleton|nucleus|plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	22		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)				ATGTCCGGATCATGAAGGAGA	0.527000														36			29		0	0	1	0	0
SP140	11262	broad.mit.edu	37	2	231108466	231108466	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr2:231108466G>A	uc002vql.3	+	4	626	c.511G>A	c.(511-513)Gaa>Aaa	p.E171K	SP140_uc010zma.1_Non-coding_Transcript|SP140_uc002vqk.2_Missense_Mutation_p.E171K|SP140_uc002vqn.3_Missense_Mutation_p.E171K|SP140_uc002vqm.3_Missense_Mutation_p.E171K|SP140_uc010fxl.3_Missense_Mutation_p.E171K	NM_007237	NP_009168	Q13342	LY10_HUMAN	Homo sapiens SP140 nuclear body protein (SP140), transcript variant 1, mRNA.	171					defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		TGCCTGTCATGAAATGGATGA	0.458000														9			46		0	0	1	0	0
GOLGA6L1	283767	broad.mit.edu	37	15	22742594	22742594	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr15:22742594G>A	uc010tzx.1	+	7	1070	c.979G>A	c.(979-981)Gag>Aag	p.E327K	abParts_uc001yuj.2_Intron|DQ579907_uc010tzy.1_5'Flank	NM_001001413	NP_001001413			Homo sapiens golgin A6 family-like 1 (GOLGA6L1), mRNA.											NS(1)|breast(2)|endometrium(5)|large_intestine(1)|lung(1)|skin(1)	11						acgggagcaggaggagaagat	0.562000														1			2		0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237765349	237765349	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr1:237765349C>T	uc001hyl.1	+	34	4741	c.4621C>T	c.(4621-4623)Cct>Tct	p.P1541S		NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	1541	4 X approximate repeats.|B30.2/SPRY 3.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AAAATTATTTCCTGCGGTTTT	0.299000														15			11		0	0	1	0	0
CCDC27	148870	broad.mit.edu	37	1	3683112	3683112	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr1:3683112G>A	uc001akv.2	+	8	1547	c.1466G>A	c.(1465-1467)cGa>cAa	p.R489Q		NM_152492	NP_689705	Q2M243	CCD27_HUMAN	Homo sapiens coiled-coil domain containing 27 (CCDC27), mRNA.	489										breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2)	36	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)		TCCAACCTCCGAGAAGATAAG	0.502000														39			19		0	0	1	0	0
CCNK	8812	broad.mit.edu	37	14	99968710	99968710	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr14:99968710G>A	uc001ygi.4	+	6	872	c.742G>A	c.(742-744)Gaa>Aaa	p.E248K		NM_001099402	NP_001092872	O75909	CCNK_HUMAN	Homo sapiens cyclin K (CCNK), mRNA.	248					cell division|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter		protein kinase binding			NS(1)|endometrium(2)|lung(3)	6		all_cancers(154;0.224)|all_epithelial(191;0.0643)|Melanoma(154;0.0866)				CGACGTTTTGGAAGGTACCAG	0.463000														13			18		0	0	1	0	0
ARID4A	5926	broad.mit.edu	37	14	58785519	58785519	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr14:58785519C>T	uc001xdp.3	+	6	699	c.445C>T	c.(445-447)Cct>Tct	p.P149S	ARID4A_uc001xdo.3_Missense_Mutation_p.P149S|ARID4A_uc001xdq.3_Missense_Mutation_p.P149S	NM_002892	NP_002883	P29374	ARI4A_HUMAN	Homo sapiens AT rich interactive domain 4A (RBP1-like) (ARID4A), transcript variant 1, mRNA.	149					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	transcriptional repressor complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						ATCTTCTCTTCCTGTGTGAGT	0.343000														25			14		0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55542857	55542857	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr8:55542857G>A	uc003xsd.1	+	3	6563	c.6415G>A	c.(6415-6417)Gaa>Aaa	p.E2139K	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	2139					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TTGGGAAGAGGAAGACATATT	0.303000														19			21		0	0	1	0	0
MRPL45P2	653479	broad.mit.edu	37	17	45534151	45534151	+	RNA	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr17:45534151G>A	uc002ilp.2	-	4		c.643C>T			MRPL45P2_uc002ilq.3_Non-coding_Transcript					Homo sapiens mitochondrial ribosomal protein L45 pseudogene 2 (MRPL45P2), non-coding RNA.																		CACATCTCATGGGCCCAACCT	0.333000														11			3		0	0	1	0	0
MCHR2	84539	broad.mit.edu	37	6	100390977	100390977	+	Missense_Mutation	SNP	T	G	G			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr6:100390977T>G	uc003pqh.1	-	3	750	c.435A>C	c.(433-435)agA>agC	p.R145S	MCHR2_uc003pqi.1_Missense_Mutation_p.R145S	NM_001040179	NP_115892	Q969V1	MCHR2_HUMAN	Homo sapiens melanin-concentrating hormone receptor 2 (MCHR2), transcript variant 1, mRNA.	145						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		TGTACCTTGTTCTCCAACGTG	0.473000														87			87		0	0	1	0	0
ADAM23	8745	broad.mit.edu	37	2	207459551	207459551	+	Silent	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr2:207459551G>A	uc002vbq.3	+	22	2392	c.2169G>A	c.(2167-2169)cgG>cgA	p.R723R	ADAM23_uc010ziv.2_Non-coding_Transcript	NM_003812	NP_003803	O75077	ADA23_HUMAN	Homo sapiens ADAM metallopeptidase domain 23 (ADAM23), mRNA.	723					cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		GTTTAGATCGGAAGTGCCTAC	0.458000														54			43		0	0	1	0	0
MYO3B	140469	broad.mit.edu	37	2	171258175	171258175	+	Silent	SNP	A	C	C			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr2:171258175A>C	uc002ufy.3	+	17	2246	c.2103A>C	c.(2101-2103)acA>acC	p.T701T	MYO3B_uc002ufv.3_Silent_p.T688T|MYO3B_uc010fqb.1_Silent_p.T701T|MYO3B_uc002ufz.3_Silent_p.T701T|MYO3B_uc002ufw.3_Non-coding_Transcript|MYO3B_uc002ufx.3_Non-coding_Transcript|MYO3B_uc002ugb.3_Non-coding_Transcript	NM_138995	NP_620482	Q8WXR4	MYO3B_HUMAN	Homo sapiens myosin IIIB (MYO3B), transcript variant 2, mRNA.	701	Myosin head-like.				response to stimulus|visual perception	cytoplasm|myosin complex	ATP binding|actin binding|motor activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						GCATTAATACACTCCTGCAGC	0.537000														39			21		0	0	1	0	0
BC043541	0	broad.mit.edu	37	1	43353338	43353338	+	RNA	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr1:43353338G>A	uc001cij.1	+	3		c.1240G>A								Homo sapiens cDNA clone IMAGE:5170739.																		CCAGACACAGGAGCCACATGA	0.697000														5			5		0	0	1	0	0
GABBR1	2550	broad.mit.edu	37	6	29581098	29581098	+	Silent	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr6:29581098C>T	uc003nmt.4	-	11	1824	c.1488G>A	c.(1486-1488)gaG>gaA	p.E496E	GABBR1_uc003nmp.4_Silent_p.E379E|GABBR1_uc003nms.4_Silent_p.E379E|GABBR1_uc003nmu.4_Silent_p.E434E|GABBR1_uc011dlr.2_Silent_p.E319E|GABBR1_uc011dls.1_Silent_p.E496E	NM_001470	NP_001461	Q9UBS5	GABR1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) B receptor, 1 (GABBR1), transcript variant 1, mRNA.	496					gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity			endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47					Baclofen(DB00181)|Progabide(DB00837)	AGTTGAAGTCCTCCAGGCGCA	0.542000														98			83		0	0	1	0	0
OR8B8	26493	broad.mit.edu	37	11	124310604	124310604	+	Silent	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr11:124310604G>A	uc010sal.2	-	0	378	c.378C>T	c.(376-378)atC>atT	p.I126I		NM_012378	NP_036510	Q15620	OR8B8_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily B, member 8 (OR8B8), mRNA.	126					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		GTGGGTTACAGATGGCCACAT	0.507000														37			42		0	0	1	0	0
NLRC5	84166	broad.mit.edu	37	16	57075478	57075479	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr16:57075478_57075479CC>TT	uc021tiu.1	+	16	3148_3149	c.3021_3022CC>TT	c.(3019-3024)ctccac>ctTTac	p.H1008Y	NLRC5_uc010ccq.1_Non-coding_Transcript|NLRC5_uc021tiv.1_Missense_Mutation_p.H813Y|NLRC5_uc021tiw.1_Missense_Mutation_p.H813Y|NLRC5_uc010ccr.1_Non-coding_Transcript|NLRC5_uc010ccs.1_Non-coding_Transcript|NLRC5_uc002eko.1_Non-coding_Transcript|NLRC5_uc002ekq.1_5'Flank	NM_032206	NP_115582	Q86WI3	NLRC5_HUMAN	Homo sapiens NLR family, CARD domain containing 5 (NLRC5), mRNA.	1008					defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|RNA polymerase II core promoter sequence-specific DNA binding|protein binding	p.H1008Q(1)		NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				TCGGTCACCTCCACCTCGAGTG	0.515000														54			34		0	0	1	0	0
VIP	7432	broad.mit.edu	37	6	153075413	153075413	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr6:153075413G>A	uc003qpe.3	+	2	392	c.220G>A	c.(220-222)Gat>Aat	p.D74N	VIP_uc003qpf.3_Missense_Mutation_p.D74N|VIP_uc010kjd.3_Missense_Mutation_p.D74N	NM_003381	NP_003372	P01282	VIP_HUMAN	Homo sapiens vasoactive intestinal peptide (VIP), transcript variant 1, mRNA.	74					G-protein coupled receptor protein signaling pathway|body fluid secretion|positive regulation of cell proliferation	extracellular region	neuropeptide hormone activity			haematopoietic_and_lymphoid_tissue(1)|lung(4)|skin(1)	6		Ovarian(120;0.0654)		OV - Ovarian serous cystadenocarcinoma(155;4.5e-11)|BRCA - Breast invasive adenocarcinoma(81;0.144)		ACCCTATTATGATGTATCCAG	0.308000														23			16		0	0	1	0	0
DSG4	147409	broad.mit.edu	37	18	28972252	28972252	+	Silent	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr18:28972252C>T	uc002kwr.2	+	7	1089	c.954C>T	c.(952-954)ttC>ttT	p.F318F	DSG4_uc002kwq.2_Silent_p.F318F	NM_001134453	NP_001127925	Q86SJ6	DSG4_HUMAN	Homo sapiens desmoglein 4 (DSG4), transcript variant 1, mRNA.	318	Cadherin 3.		Missing (in LAH1).		homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			GGAATTGGTTCGATATTCAAA	0.348000														26			24		0	0	1	0	0
OR5AR1	219493	broad.mit.edu	37	11	56431445	56431445	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr11:56431445C>T	uc010rjm.2	+	0	284	c.284C>T	c.(283-285)tCc>tTc	p.S95F	OR8U8_uc001nit.2_Intron	NM_001004730	NP_001004730	Q8NGP9	O5AR1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AR, member 1 (OR5AR1), mRNA.	95					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1)	26						ATCTCCTTCTCCAGCTGTGCC	0.502000														151			148		0	0	1	0	0
OR4N5	390437	broad.mit.edu	37	14	20612572	20612572	+	Silent	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr14:20612572G>A	uc010tla.2	+	0	678	c.678G>A	c.(676-678)agG>agA	p.R226R		NM_001004724	NP_001004724	Q8IXE1	OR4N5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily N, member 5 (OR4N5), mRNA.	226					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)		GTCGTATAAGGGAGCACTCCT	0.483000														76			74		0	0	1	0	0
GALNTL4	374378	broad.mit.edu	37	11	11470445	11470445	+	Missense_Mutation	SNP	A	G	G			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr11:11470445A>G	uc001mjo.2	-	1	695	c.274T>C	c.(274-276)Ttc>Ctc	p.F92L		NM_198516	NP_940918	Q6P9A2	GLTL4_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 4 (GALNTL4), mRNA.	92						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26				all cancers(16;3.67e-05)|Epithelial(150;0.000184)		GAGTCTGTGAAGGGCTCGGCC	0.602000														16			11		0	0	1	0	0
SPANXN2	494119	broad.mit.edu	37	X	142795241	142795241	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chrX:142795241C>T	uc004fbz.3	-	1	1191	c.437G>A	c.(436-438)gGa>gAa	p.G146E		NM_001009615	NP_001009615	Q5MJ10	SPXN2_HUMAN	Homo sapiens SPANX family, member N2 (SPANXN2), mRNA.	146								p.G146E(4)|p.I24I(2)|p.E145K(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					CTGTGAAGATCCTTCAGATGA	0.527000														44			388		0	0	1	0	0
ARNTL2	56938	broad.mit.edu	37	12	27553480	27553480	+	Silent	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr12:27553480C>T	uc001rht.2	+	9	1152	c.933C>T	c.(931-933)ttC>ttT	p.F311F	ARNTL2_uc001rhu.2_Silent_p.F297F|ARNTL2_uc001rhv.2_Silent_p.F263F|ARNTL2_uc001rhw.3_Silent_p.F274F|ARNTL2_uc010sjp.2_Silent_p.F274F|ARNTL2_uc009zji.2_Silent_p.F277F|BC043511_uc001rhx.3_Intron	NM_020183	NP_064568	Q8WYA1	BMAL2_HUMAN	Homo sapiens aryl hydrocarbon receptor nuclear translocator-like 2 (ARNTL2), transcript variant 1, mRNA.	311					circadian rhythm|entrainment of circadian clock|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	p.K310R(1)		breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	21	Colorectal(261;0.0847)|Lung SC(9;0.184)					ACAGAAAATTCTATACTATCC	0.289000														28			16		0	0	1	0	0
FRY	10129	broad.mit.edu	37	13	32835912	32835912	+	Nonsense_Mutation	SNP	G	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr13:32835912G>T	uc001utx.3	+	51	8072	c.7576G>T	c.(7576-7578)Gag>Tag	p.E2526*	FRY_uc010tdw.2_Non-coding_Transcript|FRY_uc001utz.3_Nonsense_Mutation_p.E51*|FRY_uc010tdx.2_5'Flank	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	Homo sapiens furry homolog (Drosophila) (FRY), mRNA.	2526					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		ATCCGAGGAGGAGGACCTCAC	0.493000														62			27		1.38854e-25	1.41229e-25	1	1	0
NCR1	9437	broad.mit.edu	37	19	55420723	55420723	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr19:55420723G>A	uc002qib.2	+	3	513	c.475G>A	c.(475-477)Gga>Aga	p.G159R	NCR1_uc002qic.2_Missense_Mutation_p.G159R|NCR1_uc002qie.2_Missense_Mutation_p.G159R|NCR1_uc002qid.2_Missense_Mutation_p.G64R|NCR1_uc002qif.2_Missense_Mutation_p.G64R|NCR1_uc010esj.2_Missense_Mutation_p.G52R	NM_004829	NP_004820	O76036	NCTR1_HUMAN	Homo sapiens natural cytotoxicity triggering receptor 1 (NCR1), transcript variant 1, mRNA.	159	Ig-like 2.				cellular defense response|natural killer cell activation|regulation of natural killer cell mediated cytotoxicity	SWI/SNF complex|integral to plasma membrane	receptor activity|receptor signaling protein activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(193;0.0449)		GCTCAAGGAGGGAAGATCCAG	0.582000														90			70		0	0	1	0	0
IARS2	55699	broad.mit.edu	37	1	220300168	220300168	+	Missense_Mutation	SNP	G	C	C			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr1:220300168G>C	uc001hmc.3	+	13	1924	c.1820G>C	c.(1819-1821)tGg>tCg	p.W607S		NM_018060	NP_060530	Q9NSE4	SYIM_HUMAN	Homo sapiens isoleucyl-tRNA synthetase 2, mitochondrial (IARS2), nuclear gene encoding mitochondrial protein, mRNA.	607					isoleucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|isoleucine-tRNA ligase activity			NS(1)|breast(1)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(17)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51				GBM - Glioblastoma multiforme(131;0.0554)	L-Isoleucine(DB00167)	GGAACTTCATGGTCTTATGTT	0.368000														58			44		0	0	1	0	0
LILRA1	11024	broad.mit.edu	37	19	55107288	55107288	+	Silent	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr19:55107288C>T	uc002qgh.1	+	5	1028	c.846C>T	c.(844-846)ttC>ttT	p.F282F	LILRA1_uc010yfg.1_Silent_p.F280F|LILRA1_uc010yfh.2_Silent_p.F282F	NM_006863	NP_006854	O75019	LIRA1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1 (LILRA1), mRNA.	282	Ig-like C2-type 3.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		AGGCCAACTTCACCCTGGGCC	0.627000														104			98		0	0	1	0	0
SPANXN2	494119	broad.mit.edu	37	X	142795319	142795319	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chrX:142795319C>T	uc004fbz.3	-	1	1113	c.359G>A	c.(358-360)gGa>gAa	p.G120E		NM_001009615	NP_001009615	Q5MJ10	SPXN2_HUMAN	Homo sapiens SPANX family, member N2 (SPANXN2), mRNA.	120								p.E119K(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					CTGTGAAGATCCTTCAGATGA	0.517000														461			41		0	0	1	0	0
POLQ	10721	broad.mit.edu	37	3	121190863	121190863	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr3:121190863G>A	uc003eee.4	-	21	6821	c.6692C>T	c.(6691-6693)cCt>cTt	p.P2231L	POLQ_uc003eed.3_Missense_Mutation_p.P1403L	NM_199420	NP_955452	O75417	DPOLQ_HUMAN	Homo sapiens polymerase (DNA directed), theta (POLQ), mRNA.	2231					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA-directed DNA polymerase activity|damaged DNA binding|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		CTGTGATACAGGATAGATTCT	0.343000								DNA polymerases (catalytic subunits)						30			28		0	0	1	0	0
OR5L1	219437	broad.mit.edu	37	11	55579128	55579128	+	Silent	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr11:55579128C>T	uc001nhw.1	+	0	186	c.186C>T	c.(184-186)ttC>ttT	p.F62F		NM_001004738	NP_001004738	Q8NGL2	OR5L1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily L, member 1 (OR5L1), mRNA.	62					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				TGTACTTTTTCCTCAGCCACT	0.458000														156			151		0	0	1	0	0
FCRL5	83416	broad.mit.edu	37	1	157497461	157497461	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr1:157497461C>T	uc009wsm.3	-	8	2064	c.1906G>A	c.(1906-1908)Gcc>Acc	p.A636T	FCRL5_uc001fqu.3_Missense_Mutation_p.A636T|FCRL5_uc010phv.1_Missense_Mutation_p.A636T|FCRL5_uc010phw.1_Missense_Mutation_p.A551T	NM_001195388	NP_001182317	Q96RD9	FCRL5_HUMAN	Homo sapiens Fc receptor-like 5 (FCRL5), transcript variant 2, mRNA.	636	Ig-like C2-type 6.					integral to membrane|plasma membrane	receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				CCATTGTTGGCCTCACATGAG	0.493000														130			48		0	0	1	0	0
PLCZ1	89869	broad.mit.edu	37	12	18854660	18854660	+	Silent	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr12:18854660C>T	uc021qvx.1	-	7	1106	c.915G>A	c.(913-915)aaG>aaA	p.K305K	PLCZ1_uc001rdv.4_Silent_p.K201K|PLCZ1_uc001rdw.4_Silent_p.K46K|PLCZ1_uc001rdu.1_Silent_p.K46K|PLCZ1_uc009zil.1_Non-coding_Transcript	NM_033123	NP_149114	Q86YW0	PLCZ1_HUMAN	Homo sapiens phospholipase C, zeta 1 (PLCZ1), mRNA.	305					intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					CATGGGTTTCCTTTAAGGTTC	0.383000														7			16		0	0	1	0	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	116987	116987	+	RNA	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chrGL000205.1:116987C>T	uc002kgk.4	+	0		c.365C>T								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		GTTTCATCACCTTAAATGGTT	0.478000														7			4		0	0	1	0	0
CTNNA3	29119	broad.mit.edu	37	10	68280441	68280441	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr10:68280441G>A	uc009xpn.1	-	10	1588	c.1465C>T	c.(1465-1467)Cat>Tat	p.H489Y	CTNNA3_uc001jmw.2_Missense_Mutation_p.H489Y|CTNNA3_uc001jmx.4_Missense_Mutation_p.H489Y	NM_001127384	NP_037398	Q9UI47	CTNA3_HUMAN	Homo sapiens catenin (cadherin-associated protein), alpha 3 (CTNNA3), transcript variant 2, mRNA.	489					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity	p.H489D(3)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						ACATGTATATGATTCTCCCAT	0.363000														38			38		0	0	1	0	0
MYL1	4632	broad.mit.edu	37	2	211159129	211159129	+	Silent	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr2:211159129C>T	uc002vec.3	-	3	447	c.318G>A	c.(316-318)aaG>aaA	p.K106K	MYL1_uc002veb.3_Silent_p.K62K	NM_079420	NP_524144	P05976	MYL1_HUMAN	Homo sapiens myosin, light chain 1, alkali; skeletal, fast (MYL1), transcript variant 1f, mRNA.	106					muscle filament sliding|muscle organ development	cytosol|muscle myosin complex|sarcomere	calcium ion binding|structural constituent of muscle	p.K106N(2)|p.A105V(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)	16				Epithelial(149;0.00573)|Lung(261;0.0422)|LUSC - Lung squamous cell carcinoma(261;0.0444)|all cancers(144;0.057)		ACTCAATTTTCTTGGCATTCA	0.378000														33			31		0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40362890	40362890	+	Silent	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr19:40362890G>A	uc002omp.4	-	31	15188	c.15180C>T	c.(15178-15180)ttC>ttT	p.F5060F		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	5060	VWFD 12.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GGCAGGTCGCGAAGGGGCCCT	0.657000														133			118		0	0	1	0	0
ULK4	54986	broad.mit.edu	37	3	41961208	41961208	+	Splice_Site	SNP	C	T	T			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr3:41961208C>T	uc003ckv.4	-	6	844	c.643_splice	c.e6+1	p.G215_splice	ULK4_uc003ckw.2_Splice_Site_p.G215_splice|ULK4_uc003ckx.1_Splice_Site_p.G215_splice	NM_017886	NP_060356	Q96C45	ULK4_HUMAN	Homo sapiens unc-51-like kinase 4 (C. elegans) (ULK4), mRNA.	215	Protein kinase.						ATP binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		GAAACAATTACCTGAAAACAT	0.393000														129			83		0	0	1	0	0
PCSK6	5046	broad.mit.edu	37	15	101853490	101853490	+	Silent	SNP	G	A	A	rs80278342	by1000genomes	TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr15:101853490G>A	uc002bxa.2	-	20	3101	c.2787C>T	c.(2785-2787)gcC>gcT	p.A929A	PCSK6_uc010bpd.3_Intron|PCSK6_uc002bwy.3_Intron|PCSK6_uc010bpe.3_Intron|PCSK6_uc002bxb.2_Silent_p.A916A	NM_138320	NP_612193	P29122	PCSK6_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 6 (PCSK6), transcript variant 7, mRNA.	0	CRM (Cys-rich motif).				glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell	Golgi lumen|cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|membrane|soluble fraction	eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TGCCCTCCCCGGCCCCTGGGG	0.607000														24			16		0	0	1	0	0
PLCL2	23228	broad.mit.edu	37	3	17051422	17051422	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr3:17051422G>A	uc011awc.2	+	2	656	c.560G>A	c.(559-561)aGa>aAa	p.R187K	PLCL2_uc010het.1_Missense_Mutation_p.R69K|PLCL2_uc011awd.2_Missense_Mutation_p.R69K	NM_001144382	NP_001137854	Q9UPR0	PLCL2_HUMAN	Homo sapiens phospholipase C-like 2 (PLCL2), transcript variant 1, mRNA.	195	PH.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						AAGGAAGTGAGAACAGGAAAA	0.408000														68			57		0	0	1	0	0
PHF17	79960	broad.mit.edu	37	4	129782942	129782942	+	Silent	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr4:129782942G>A	uc011cgy.2	+	8	1379	c.1065G>A	c.(1063-1065)gaG>gaA	p.E355E	PHF17_uc003igj.3_Silent_p.E355E|PHF17_uc003igk.3_Silent_p.E355E|PHF17_uc003igl.3_Silent_p.E343E|PHF17_uc003igm.3_Silent_p.E355E	NM_199320	NP_955352	Q6IE81	JADE1_HUMAN	Homo sapiens PHD finger protein 17 (PHF17), transcript variant L, mRNA.	355					apoptosis|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation|negative regulation of cell growth|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	histone acetyltransferase complex|mitochondrion	protein binding|zinc ion binding			NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						TCTTAGCAGAGAATGATGAAG	0.527000														151			126		0	0	1	0	0
CCDC73	493860	broad.mit.edu	37	11	32636409	32636409	+	Silent	SNP	G	A	A			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr11:32636409G>A	uc001mtv.3	-	15	1499	c.1455C>T	c.(1453-1455)tcC>tcT	p.S485S		NM_001008391	NP_001008392	Q6ZRK6	CCD73_HUMAN	Homo sapiens coiled-coil domain containing 73 (CCDC73), mRNA.	485										NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					TTTTGCTTAAGGAGATTTCAC	0.338000														32			15		0	0	1	0	0
RRP36	88745	broad.mit.edu	37	6	42989414	42989419	+	In_Frame_Del	DEL	GCCGGG	-	-	rs60664426		TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr6:42989414_42989419delGCCGGG	uc003otp.1	+	0	30_35	c.22_27delGCCGGG	c.(22-27)gccgggdel	p.AG14del		NM_033112	NP_149103	Q96EU6	RRP36_HUMAN	Homo sapiens ribosomal RNA processing 36 homolog (S. cerevisiae) (RRP36), mRNA.	14					rRNA processing|ribosomal small subunit biogenesis	nucleolus		p.A8_G9delAG(2)		NS(1)|breast(1)|central_nervous_system(1)|large_intestine(5)|lung(1)|ovary(1)|prostate(1)	11						TAACTAccgcgccggggccggggccg	0.777													---	4	---	---	3	---					
LOC100507462	100507462	broad.mit.edu	37	6	139094677	139094677	+	Frame_Shift_Del	DEL	G	-	-			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr6:139094677delG	uc003qid.2	-	0	140	c.11delC	c.(10-12)cctfs	p.P4fs	CCDC28A_uc003qie.3_5'UTR	NM_001242740	NP_001229669			Homo sapiens uncharacterized LOC100507462 (LOC100507462), mRNA.																		CTTCCGGAAAGGGTACTGCAT	0.577													---	31	---	---	10	---					
TRRAP	8295	broad.mit.edu	37	7	98574607	98574609	+	In_Frame_Del	DEL	GAA	-	-			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr7:98574607_98574609delGAA	uc003upp.3	+	54	8481_8483	c.8272_8274delGAA	c.(8272-8274)gaadel	p.E2758del	TRRAP_uc011kis.2_In_Frame_Del_p.E2740del|TRRAP_uc003upr.3_In_Frame_Del_p.E2457del	NM_001244580	NP_001231509	Q9Y4A5	TRRAP_HUMAN	Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA.	2758	FAT.				histone H2A acetylation|histone H4 acetylation|histone deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GTTACAAGAGGAAGATATGTGGG	0.502													---	75	---	---	40	---					
PTPRZ1	5803	broad.mit.edu	37	7	121612723	121612726	+	Frame_Shift_Del	DEL	GAAG	-	-	rs150779305		TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr7:121612723_121612726delGAAG	uc003vjy.3	+	3	828_831	c.433_436delGAAG	c.(433-438)gaaggafs	p.E145fs	PTPRZ1_uc011knt.2_Frame_Shift_Del_p.E145fs|PTPRZ1_uc003vjz.3_Frame_Shift_Del_p.E145fs	NM_002851	NP_002842	P23471	PTPRZ_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor-type, Z polypeptide 1 (PTPRZ1), transcript variant 1, mRNA.	145	Alpha-carbonic anhydrase.				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						GCATAGTTTAGAAGGACAAAAATT	0.324													---	75	---	---	46	---					
PDCD11	22984	broad.mit.edu	37	10	105194715	105194715	+	Frame_Shift_Del	DEL	C	-	-			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr10:105194715delC	uc001kwy.1	+	24	3915	c.3828delC	c.(3826-3828)gtcfs	p.V1276fs		NM_014976	NP_055791	Q14690	RRP5_HUMAN	Homo sapiens programmed cell death 11 (PDCD11), mRNA.	1276	S1 motif 11.				mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		AAGACTTCGTCCCCCAGAAGG	0.453													---	45	---	---	38	---					
SIK2	23235	broad.mit.edu	37	11	111594560	111594562	+	In_Frame_Del	DEL	CCA	-	-	rs45598733		TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr11:111594560_111594562delCCA	uc001plt.3	+	14	2606_2608	c.2488_2490delCCA	c.(2488-2490)ccadel	p.P832del		NM_015191	NP_056006	Q9H0K1	SIK2_HUMAN	Homo sapiens salt-inducible kinase 2 (SIK2), mRNA.	832					intracellular protein kinase cascade|regulation of insulin receptor signaling pathway	Golgi apparatus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	30						accaccccctccaccaccacgac	0.665													---	88	---	---	87	---					
EPB42	2038	broad.mit.edu	37	15	43498539	43498540	+	In_Frame_Ins	INS	-	TGAGCG	TGAGCG			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr15:43498539_43498540insTGAGCG	uc001zrb.4	-	9	1996_1997	c.1696_1697insCGCTCA	c.(1696-1698)agt>aCGCTCAgt	p.565_566insTL	EPB42_uc001zqz.4_In_Frame_Ins_p.202_203insTL|EPB42_uc001zra.4_In_Frame_Ins_p.535_536insTL|EPB42_uc010udm.2_In_Frame_Ins_p.457_458insTL	NM_000119	NP_000110	P16452	EPB42_HUMAN	Homo sapiens erythrocyte membrane protein band 4.2 (EPB42), transcript variant 1, mRNA.	535					erythrocyte maturation|peptide cross-linking|regulation of cell shape	cytoplasm|cytoskeleton|plasma membrane	ATP binding|protein binding|protein-glutamine gamma-glutamyltransferase activity|structural constituent of cytoskeleton			endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.7e-07)		CAGGTTGGCACTGAGCGTGAGG	0.624													---	82	---	---	28	---					
PKN1	5585	broad.mit.edu	37	19	14580770	14580772	+	In_Frame_Del	DEL	AAG	-	-			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr19:14580770_14580772delAAG	uc002myp.3	+	17	2431_2433	c.2263_2265delAAG	c.(2263-2265)aagdel	p.K755del	PKN1_uc002myq.3_In_Frame_Del_p.K761del	NM_002741	NP_002732	Q16512	PKN1_HUMAN	Homo sapiens protein kinase N1 (PKN1), transcript variant 2, mRNA.	755	Protein kinase.				activation of JUN kinase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	endosome|nucleus|plasma membrane	ATP binding|GTP-Rho binding|Rac GTPase binding|androgen receptor binding|chromatin binding|histone binding|histone deacetylase binding|histone kinase activity (H3-T11 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding			breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)	31						GGGCTACGTCAAGATCGCAGACT	0.601													---	177	---	---	114	---					
ZNF295	49854	broad.mit.edu	37	21	43412459	43412459	+	Frame_Shift_Del	DEL	C	-	-			TCGA-FS-A4F0-06A-11D-A24R-08	TCGA-FS-A4F0-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ce77bb2-fb74-4dd2-8e06-54171c2d69d2	b695142c-782a-4489-bdde-3b1840d7b530	g.chr21:43412459delC	uc021wjo.1	-	0	1746	c.1746delG	c.(1744-1746)aagfs	p.K582fs	ZNF295_uc002yzz.4_Intron|ZNF295_uc002zab.4_Frame_Shift_Del_p.K582fs|ZNF295_uc002yzy.4_Frame_Shift_Del_p.K582fs|ZNF295_uc002zaa.4_Frame_Shift_Del_p.K582fs	NM_020727	NP_065778	Q9ULJ3	ZN295_HUMAN	Homo sapiens zinc finger protein 295 (ZNF295), transcript variant 2, mRNA.	582					negative regulation of transcription, DNA-dependent|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	methyl-CpG binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37						TGTGAAACCTCTTGTGACAGA	0.453													---	89	---	---	88	---					
