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
TUBGCP5	114791	broad.mit.edu	37	15	22833544	22833544	+	Missense_Mutation	SNP	C	G	G			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr15:22833544C>G	uc001yuq.2	+	0	150	c.20C>G	c.(19-21)cCg>cGg	p.P7R	TUBGCP5_uc001yur.4_Missense_Mutation_p.P7R	NM_001102610	NP_001096080	Q96RT8	GCP5_HUMAN	Homo sapiens tubulin, gamma complex associated protein 5 (TUBGCP5), transcript variant 2, mRNA.	7					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	46		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)		CACGGGCCACCGTGGAGTCGG	0.721000														4			4		0	0	0.000248	0	0
PDGFRB	5159	broad.mit.edu	37	5	149495442	149495442	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr5:149495442C>T	uc003lro.3	-	22	3674	c.3205G>A	c.(3205-3207)Gaa>Aaa	p.E1069K	CSF1R_uc003lrm.3_5'Flank|PDGFRB_uc003lrn.1_5'Flank|PDGFRB_uc010jhd.3_Missense_Mutation_p.E908K	NM_002609	NP_002600	P09619	PGFRB_HUMAN	Homo sapiens platelet-derived growth factor receptor, beta polypeptide (PDGFRB), mRNA.	1069					aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	GGCTCTGGTTCGTCCTGGGGC	0.632000			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""									11			5		0	0	0.000602	0	0
ALDH1L1	10840	broad.mit.edu	37	3	125844480	125844480	+	Silent	SNP	T	G	G			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr3:125844480T>G	uc003eim.1	-	14	1969	c.1779A>C	c.(1777-1779)acA>acC	p.T593T	ALDH1L1_uc010hse.1_Non-coding_Transcript|ALDH1L1_uc011bki.1_Silent_p.T492T	NM_012190	NP_036322	O75891	AL1L1_HUMAN	Homo sapiens aldehyde dehydrogenase 1 family, member L1 (ALDH1L1), mRNA.	593	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	TGATCACCACTGTGTTCCCGG	0.567000														74			13		0	0	0.003163	0	0
FAM55D	54827	broad.mit.edu	37	11	114453641	114453641	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr11:114453641C>T	uc001ppc.3	-	2	380	c.199G>A	c.(199-201)Gag>Aag	p.E67K	FAM55D_uc001ppd.3_5'UTR	NM_001077639	NP_001071107	Q6UWF7	FA55D_HUMAN	Homo sapiens family with sequence similarity 55, member D (FAM55D), transcript variant 1, mRNA.	67						extracellular region				breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(17)|ovary(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(61;8.53e-16)|all_epithelial(67;1.71e-08)|all_hematologic(158;3.05e-05)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0194)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)		BRCA - Breast invasive adenocarcinoma(274;2.82e-06)|Epithelial(105;0.000129)|all cancers(92;0.000938)		AGTTCAGTCTCTGTTAGTGGC	0.443000														159			21		0	0	0.003330	0	0
MAGEC1	9947	broad.mit.edu	37	X	140993246	140993246	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chrX:140993246C>T	uc004fbt.3	+	3	380	c.56C>T	c.(55-57)tCt>tTt	p.S19F	MAGEC1_uc010nsl.2_5'UTR|MAGEC1_uc022cfi.1_5'Flank	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	19							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					CAGAGTTCCTCTGAGAGTCCT	0.547000										HNSCC(15;0.026)				60			35		0	0	0.005524	0	0
C6orf108	10591	broad.mit.edu	37	6	43193825	43193826	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr6:43193825_43193826CC>TT	uc003ouo.3	-	2	338_339	c.321_322GG>AA	c.(319-324)cgggcc>cgAAcc	p.A108T	C6orf108_uc003oup.3_Missense_Mutation_p.A108T	NM_006443	NP_006434	O43598	RCL_HUMAN	Homo sapiens chromosome 6 open reading frame 108 (C6orf108), transcript variant 1, mRNA.	108					cell proliferation|deoxyribonucleoside monophosphate catabolic process|positive regulation of cell growth	cytoplasm|nucleus	deoxyribonucleoside 5'-monophosphate N-glycosidase activity|nucleoside deoxyribosyltransferase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|urinary_tract(1)	5			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0123)|OV - Ovarian serous cystadenocarcinoma(102;0.0531)			AAGGCCACGGCCCGGCCCAGCT	0.619000														21			7		0	0	0.004672	0	0
DCST1	149095	broad.mit.edu	37	1	155023108	155023108	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr1:155023108G>A	uc001fgn.2	+	16	1999	c.1885G>A	c.(1885-1887)Gat>Aat	p.D629N	DCST1_uc010pes.2_Missense_Mutation_p.D604N|LOC100505666_uc021pam.1_Non-coding_Transcript|LOC100505666_uc021pan.1_Intron|ADAM15_uc001fgq.1_5'Flank|ADAM15_uc009wpc.1_5'Flank|ADAM15_uc010pet.1_5'Flank|ADAM15_uc010peu.1_5'Flank|ADAM15_uc001fgx.1_5'Flank|ADAM15_uc001fgz.1_5'Flank|ADAM15_uc001fgy.1_5'Flank|ADAM15_uc001fha.1_5'Flank|ADAM15_uc001fgt.1_5'Flank|ADAM15_uc001fgs.1_5'Flank|ADAM15_uc010pev.1_5'Flank|ADAM15_uc001fgr.1_5'Flank|ADAM15_uc001fgu.1_5'Flank|ADAM15_uc001fgv.1_5'Flank|ADAM15_uc001fgw.1_5'Flank	NM_152494	NP_689707	Q5T197	DCST1_HUMAN	Homo sapiens DC-STAMP domain containing 1 (DCST1), transcript variant 1, mRNA.	629						integral to membrane	zinc ion binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	27	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			CCCGCTGGCGGATATCCTGCA	0.706000											OREG0013846	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		5			3		0	0	0.000248	0	0
TRIM55	84675	broad.mit.edu	37	8	67061995	67061995	+	Missense_Mutation	SNP	A	C	C			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr8:67061995A>C	uc003xvv.3	+	4	945	c.719A>C	c.(718-720)aAa>aCa	p.K240T	TRIM55_uc003xvu.3_Missense_Mutation_p.K240T|TRIM55_uc003xvw.3_Missense_Mutation_p.K240T|TRIM55_uc003xvx.3_Intron	NM_184085	NP_908973	Q9BYV6	TRI55_HUMAN	Homo sapiens tripartite motif containing 55 (TRIM55), transcript variant 1, mRNA.	240						cytoplasm|microtubule|nucleus	signal transducer activity|zinc ion binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	39		Lung NSC(129;0.138)|all_lung(136;0.221)	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)			CAAGAGGAGAAACTGGAACAT	0.418000														70			14		0	0	0.001855	0	0
TET3	200424	broad.mit.edu	37	2	74328040	74328040	+	Silent	SNP	C	T	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr2:74328040C>T	uc002skb.4	+	8	3720	c.3720C>T	c.(3718-3720)ctC>ctT	p.L1240L		NM_144993	NP_659430	O43151	TET3_HUMAN	Homo sapiens tet methylcytosine dioxygenase 3 (TET3), mRNA.	1240							metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.L1239fs*35(1)		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						CCCCCCTACTCCACTCAGTGT	0.632000														9			4		0	0	0.000602	0	0
C1orf112	55732	broad.mit.edu	37	1	169798453	169798453	+	Nonsense_Mutation	SNP	G	T	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr1:169798453G>T	uc001ggq.3	+	12	1877	c.1177G>T	c.(1177-1179)Gaa>Taa	p.E393*	C1orf112_uc001ggj.3_Non-coding_Transcript|C1orf112_uc001ggp.3_Nonsense_Mutation_p.E393*|C1orf112_uc009wvt.3_Nonsense_Mutation_p.E70*|C1orf112_uc010plu.1_Silent_p.V320V|C1orf112_uc009wvu.1_Nonsense_Mutation_p.E269*|C1orf112_uc001ggr.3_Nonsense_Mutation_p.E258*|C1orf112_uc010plv.2_Nonsense_Mutation_p.E335*	NM_018186	NP_060656	Q9NSG2	CA112_HUMAN	Homo sapiens chromosome 1 open reading frame 112 (C1orf112), mRNA.	393										breast(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|stomach(1)	34	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GTGTTCTGGTGAACTCTCTCT	0.393000														54			9		3.86212e-05	8.11852e-05	0.000673	1	0
TMPRSS13	84000	broad.mit.edu	37	11	117774799	117774799	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr11:117774799G>A	uc001prs.2	-	10	1545	c.1399C>T	c.(1399-1401)Ctc>Ttc	p.L467F	TMPRSS13_uc009yzr.2_Missense_Mutation_p.L432F|TMPRSS13_uc021qrc.1_Missense_Mutation_p.L467F|TMPRSS13_uc001prt.1_Missense_Mutation_p.L146F	NM_001077263	NP_001070731	Q9BYE2	TMPSD_HUMAN	Homo sapiens transmembrane protease, serine 13 (TMPRSS13), transcript variant 1, mRNA.	462	Peptidase S1.				proteolysis	integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.00106)		ACCTCCCGGAGGAAGGGGGAT	0.532000														20			9		0	0	0.000978	0	0
ZFPM2	23414	broad.mit.edu	37	8	106573624	106573624	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr8:106573624G>A	uc003ymd.3	+	3	358	c.335G>A	c.(334-336)cGa>cAa	p.R112Q		NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	Homo sapiens zinc finger protein, multitype 2 (ZFPM2), mRNA.	112					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding	p.R112Q(2)		NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			GATGGGGAACGAAAAATTCAG	0.438000														40			36		0	0	0.001485	0	0
ACP6	51205	broad.mit.edu	37	1	147131150	147131150	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr1:147131150G>A	uc001epr.2	-	3	948	c.484C>T	c.(484-486)Cgt>Tgt	p.R162C	ACP6_uc009wjj.1_Missense_Mutation_p.R119C	NM_016361	NP_057445	Q9NPH0	PPA6_HUMAN	Homo sapiens acid phosphatase 6, lysophosphatidic (ACP6), mRNA.	162					lipid metabolic process	extracellular region|mitochondrion	acid phosphatase activity|protein binding			breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(4)|prostate(1)	16	all_hematologic(923;0.0276)					TTAGTGGAACGAATACTGAAA	0.398000														52			33		0	0	0.002445	0	0
OR7G3	390883	broad.mit.edu	37	19	9236999	9236999	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr19:9236999G>A	uc010xkl.2	-	0	628	c.628C>T	c.(628-630)Cct>Tct	p.P210S		NM_001001958	NP_001001958	Q8NG95	OR7G3_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily G, member 3 (OR7G3), mRNA.	210					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						CCAGAGAGAGGAACAACACCT	0.433000														85			11		0	0	0.000673	0	0
GDAP1L1	78997	broad.mit.edu	37	20	42887216	42887216	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr20:42887216G>A	uc010zwl.2	+	2	640	c.573G>A	c.(571-573)atG>atA	p.M191I	GDAP1L1_uc002xlp.1_Missense_Mutation_p.M172I|GDAP1L1_uc002xlq.3_Missense_Mutation_p.M172I|GDAP1L1_uc010zwm.2_Intron|GDAP1L1_uc010zwn.2_Intron	NM_024034	NP_076939	Q96MZ0	GD1L1_HUMAN	Homo sapiens ganglioside-induced differentiation-associated protein 1-like 1 (GDAP1L1), mRNA.	172	GST C-terminal.							p.T190T(1)		endometrium(1)|large_intestine(5)|lung(10)|pancreas(1)|prostate(1)	18		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			CCGACTCCATGATCCCCAAGT	0.637000														15			7		0	0	0.000443	0	0
UNC13A	23025	broad.mit.edu	37	19	17760345	17760345	+	Silent	SNP	C	T	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr19:17760345C>T	uc021uqk.1	-	12	1533	c.1491G>A	c.(1489-1491)agG>agA	p.R497R		NM_001080421	NP_001073890	Q9UPW8	UN13A_HUMAN	Homo sapiens unc-13 homolog A (C. elegans) (UNC13A), mRNA.	497					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						GGATAGGTTTCCTCTTGCGGA	0.572000														61			23		0	0	0.003954	0	0
ZNF341	84905	broad.mit.edu	37	20	32344993	32344993	+	Missense_Mutation	SNP	C	A	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr20:32344993C>A	uc002wzy.3	+	5	801	c.781C>A	c.(781-783)Ccc>Acc	p.P261T	ZNF341_uc002wzx.3_Missense_Mutation_p.P261T|ZNF341_uc010geq.3_Missense_Mutation_p.P171T|ZNF341_uc010ger.3_Non-coding_Transcript	NM_032819	NP_116208	Q9BYN7	ZN341_HUMAN	Homo sapiens zinc finger protein 341 (ZNF341), mRNA.	261					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P261P(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	31						ATATCCCACCCCCACAGTGTA	0.612000														157			43		1.23713e-20	2.63108e-20	0.003610	1	0
PCDHAC2	56134	broad.mit.edu	37	5	140175450	140175450	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr5:140175450G>A	uc003lhd.2	+	0	1007	c.901G>A	c.(901-903)Gaa>Aaa	p.E301K	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhc.1_Missense_Mutation_p.E301K|PCDHAC2_uc011czy.2_Missense_Mutation_p.E301K	NM_018905	NP_061728	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 2 (PCDHA2), transcript variant 1, mRNA.	316	Cadherin 3.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CATCTCAGGGGAAATCAGAAC	0.433000														36			21		0	0	0.002299	0	0
C7	730	broad.mit.edu	37	5	40936531	40936531	+	Silent	SNP	G	A	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr5:40936531G>A	uc003jmh.3	+	4	486	c.372G>A	c.(370-372)agG>agA	p.R124R	C7_uc011cpn.1_Non-coding_Transcript	NM_000587	NP_000578	P10643	CO7_HUMAN	Homo sapiens complement component 7 (C7), mRNA.	124	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				ACTCAGAAAGGAGACCTTCCT	0.458000														21			15		0	0	0.003163	0	0
PCDHB3	56132	broad.mit.edu	37	5	140482592	140482592	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr5:140482592C>T	uc003lio.3	+	0	2359	c.2359C>T	c.(2359-2361)Ccc>Tcc	p.P787S	BC016751_uc003lin.3_5'Flank	NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	Homo sapiens protocadherin beta 3 (PCDHB3), mRNA.	787					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGAGGCAAATCCCAGTTTCAG	0.453000														92			18		0	0	0.003330	0	0
SPHKAP	80309	broad.mit.edu	37	2	228881249	228881249	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr2:228881249C>T	uc002vpq.2	-	6	4368	c.4321G>A	c.(4321-4323)Ggg>Agg	p.G1441R	SPHKAP_uc002vpp.2_Missense_Mutation_p.G1441R|SPHKAP_uc010zlx.1_Missense_Mutation_p.G1441R	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	1441						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)		TCAGGTTCCCCAGCACAGGCT	0.498000														42			28		0	0	0.001271	0	0
CRB1	23418	broad.mit.edu	37	1	197390634	197390634	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr1:197390634C>T	uc001gtz.3	+	5	1885	c.1676C>T	c.(1675-1677)tCc>tTc	p.S559F	CRB1_uc010poz.2_Missense_Mutation_p.S490F|CRB1_uc009wza.3_Missense_Mutation_p.S447F|CRB1_uc010ppa.2_Non-coding_Transcript|CRB1_uc010ppb.2_Missense_Mutation_p.S559F|CRB1_uc010ppc.1_Non-coding_Transcript|CRB1_uc010ppd.2_Missense_Mutation_p.S40F|CRB1_uc001gub.1_Missense_Mutation_p.S208F	NM_201253	NP_957705	P82279	CRUM1_HUMAN	Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA.	559	Laminin G-like 1.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	p.I558F(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						CTGTTCATTTCCCACAACACC	0.458000														74			61		0	0	0.003610	0	0
GPR18	2841	broad.mit.edu	37	13	99907337	99907337	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr13:99907337A>G	uc001voe.4	-	2	1449	c.790T>C	c.(790-792)Tac>Cac	p.Y264H	UBAC2_uc001voa.4_Intron|UBAC2_uc010tiu.2_Intron|UBAC2_uc001vob.4_Intron|UBAC2_uc010tiv.2_Intron|UBAC2_uc001vod.3_Intron|UBAC2_uc001voc.3_Intron|UBAC2_uc010tiw.2_Intron|MIR548AN_uc021rly.1_Intron|GPR18_uc010afv.3_Missense_Mutation_p.Y264H|GPR18_uc021rlz.1_Missense_Mutation_p.Y264H	NM_005292	NP_005283	Q14330	GPR18_HUMAN	Homo sapiens G protein-coupled receptor 18 (GPR18), transcript variant 1, mRNA.	264						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(2)|large_intestine(2)|lung(6)	10	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Glycine(DB00145)	CAGGGATTGTAACTGTTCTCC	0.498000														92			13		0	0	0.003163	0	0
OTOGL	283310	broad.mit.edu	37	12	80633179	80633179	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr12:80633179C>T	uc001szd.3	+	9	991	c.985C>T	c.(985-987)Cca>Tca	p.P329S		NM_173591	NP_775862			Homo sapiens otogelin-like (OTOGL), mRNA.											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						GTATATCGATCCATACTTATA	0.358000														160			22		0	0	0.005443	0	0
ZNF43	7594	broad.mit.edu	37	19	21990432	21990432	+	Missense_Mutation	SNP	G	T	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr19:21990432G>T	uc002nqj.3	-	3	2537	c.2407C>A	c.(2407-2409)Caa>Aaa	p.Q803K	ZNF43_uc002nql.3_Missense_Mutation_p.Q797K|ZNF43_uc002nqm.3_Missense_Mutation_p.Q797K|ZNF43_uc010ecv.3_Missense_Mutation_p.Q797K|ZNF43_uc002nqk.3_Missense_Mutation_p.Q733K	NM_003423	NP_003414	P17038	ZNF43_HUMAN	Homo sapiens zinc finger protein 43 (ZNF43), mRNA.	803					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Q803H(1)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		GAAAAAGTTTGAGGTGTTGTC	0.318000														33			12		0.00244969	0.00509042	0.002450	1	0
MAP3K13	9175	broad.mit.edu	37	3	185167787	185167787	+	Silent	SNP	C	T	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr3:185167787C>T	uc010hyf.3	+	6	1401	c.1110C>T	c.(1108-1110)ctC>ctT	p.L370L	MAP3K13_uc011brt.2_Silent_p.L163L|MAP3K13_uc003fph.4_Silent_p.L138L|MAP3K13_uc011bru.2_Silent_p.L226L|MAP3K13_uc003fpi.3_Silent_p.L370L|MAP3K13_uc010hyg.3_Silent_p.L60L	NM_001242314	NP_001229243	O43283	M3K13_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 13 (MAP3K13), transcript variant 2, mRNA.	370	Protein kinase.				JNK cascade|activation of MAPKK activity|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|MAP kinase kinase kinase activity|magnesium ion binding|protein homodimerization activity|protein kinase binding			NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			GCAACAGCCTCCACCTTCCAG	0.453000														101			39		0	0	0.002222	0	0
ALS2CR11	151254	broad.mit.edu	37	2	202483646	202483646	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr2:202483646C>T	uc002uyf.3	-	0	260	c.208G>A	c.(208-210)Ggc>Agc	p.G70S	ALS2CR11_uc002uye.3_Missense_Mutation_p.G70S|ALS2CR11_uc010fti.3_Missense_Mutation_p.G70S|ALS2CR11_uc021vvc.1_Missense_Mutation_p.G70S	NM_001168221	NP_001161693	Q53TS8	AL2SA_HUMAN	Homo sapiens amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11 (ALS2CR11), transcript variant 1, mRNA.	70										NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3)	33						TGCCCGGTGCCCTCCTGGTTC	0.637000														23			11		0	0	0.000978	0	0
DGCR8	54487	broad.mit.edu	37	22	20096481	20096481	+	Silent	SNP	C	T	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr22:20096481C>T	uc002zri.3	+	12	2622	c.2193C>T	c.(2191-2193)atC>atT	p.I731I	DGCR8_uc010grz.3_Silent_p.I698I|DGCR8_uc002zrj.3_Silent_p.I374I	NM_022720	NP_073557	Q8WYQ5	DGCR8_HUMAN	Homo sapiens DiGeorge syndrome critical region gene 8 (DGCR8), transcript variant 1, mRNA.	731	Necessary for heme-binding and pri-miRNA processing.|Necessary for interaction with DROSHA.				primary miRNA processing	cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding			NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	Colorectal(54;0.0993)					ACCTGCACATCCTCAGCAAGC	0.577000														62			26		0	0	0.001061	0	0
DENND1C	79958	broad.mit.edu	37	19	6468913	6468913	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr19:6468913G>A	uc002mfe.3	-	19	1551	c.1459C>T	c.(1459-1461)Ccc>Tcc	p.P487S	DENND1C_uc002mfb.3_Missense_Mutation_p.P37S|DENND1C_uc002mfc.3_Missense_Mutation_p.P37S|DENND1C_uc002mfd.3_Missense_Mutation_p.P37S|DENND1C_uc010xje.2_Missense_Mutation_p.P443S	NM_024898	NP_079174	Q8IV53	DEN1C_HUMAN	Homo sapiens DENN/MADD domain containing 1C (DENND1C), mRNA.	487						clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity			endometrium(3)|kidney(3)|large_intestine(1)|lung(3)	10						GAGCGGCTGGGGAGGGCTGGG	0.617000														20			5		0	0	0.000602	0	0
ZNF28	7576	broad.mit.edu	37	19	53303978	53303978	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr19:53303978G>A	uc002qad.3	-	3	1277	c.1120C>T	c.(1120-1122)Cgt>Tgt	p.R374C	ZNF28_uc002qac.3_Missense_Mutation_p.R320C|ZNF28_uc010eqe.3_Missense_Mutation_p.R320C|ZNF28_uc021uza.1_Missense_Mutation_p.R321C	NM_006969	NP_008900	P17035	ZNF28_HUMAN	Homo sapiens zinc finger protein 28 (ZNF28), transcript variant 1, mRNA.	374					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		TGAAGCCTACGATGGCGTGCA	0.383000														85			13		0	0	0.001855	0	0
MORC1	27136	broad.mit.edu	37	3	108751602	108751602	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr3:108751602C>T	uc003dxl.3	-	15	1617	c.1530G>A	c.(1528-1530)tgG>tgA	p.W510*	MORC1_uc011bhn.2_Nonsense_Mutation_p.W510*	NM_014429	NP_055244	Q86VD1	MORC1_HUMAN	Homo sapiens MORC family CW-type zinc finger 1 (MORC1), mRNA.	510					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						TAGCACAAATCCAAATGTCAA	0.284000														51			13		0	0	0.003163	0	0
KCNH2	3757	broad.mit.edu	37	7	150644006	150644006	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr7:150644006C>T	uc003wic.3	-	13	3690	c.3289G>A	c.(3289-3291)Gtc>Atc	p.V1097I	KCNH2_uc003wib.3_Missense_Mutation_p.V757I|KCNH2_uc011kux.2_Missense_Mutation_p.V1001I	NM_000238	NP_000229	Q12809	KCNH2_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 2 (KCNH2), transcript variant 1, mRNA.	1097					blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)	AGGGGGCTGACGGGCAACAGC	0.657000														42			25		0	0	0.004656	0	0
KRT36	8689	broad.mit.edu	37	17	39642737	39642737	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr17:39642737G>A	uc002hwt.3	-	6	1295	c.1295C>T	c.(1294-1296)cCc>cTc	p.P432L		NM_003771	NP_003762	O76013	KRT36_HUMAN	Homo sapiens keratin 36 (KRT36), mRNA.	432	Tail.					intermediate filament	protein binding|structural constituent of epidermis			breast(2)|cervix(1)|kidney(2)|large_intestine(3)|lung(8)|skin(1)	17		Breast(137;0.000286)				CGGGGTGCAGGGCACAGAGGG	0.602000														18			9		0	0	0.004482	0	0
PCNA	5111	broad.mit.edu	37	20	5099424	5099424	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr20:5099424C>T	uc002wlp.3	-	1	513	c.310G>A	c.(310-312)Gaa>Aaa	p.E104K	PCNA_uc002wlq.3_Missense_Mutation_p.E104K|PCNA_uc010zqs.1_Missense_Mutation_p.E104K|PCNA-AS1_uc021wai.1_5'Flank	NM_182649	NP_872590	P12004	PCNA_HUMAN	Homo sapiens proliferating cell nuclear antigen (PCNA), transcript variant 2, mRNA.	104					DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle|cell proliferation|mismatch repair|nucleotide-excision repair, DNA gap filling|phosphatidylinositol-mediated signaling|positive regulation of deoxyribonuclease activity|regulation of DNA replication|regulation of transcription involved in G1/S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair|translesion synthesis	DNA replication factor C complex|PCNA complex|PCNA-p21 complex|cytoplasm|microtubule cytoskeleton|nuclear replication fork|nucleoplasm	DNA polymerase processivity factor activity|MutLalpha complex binding|dinucleotide insertion or deletion binding|purine-specific mismatch base pair DNA N-glycosylase activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(2)	9						CTTGGTGCTTCAAATACTAGC	0.413000								DNA polymerases (catalytic subunits)						198			78		0	0	0.003610	0	0
CXorf40A	91966	broad.mit.edu	37	X	148627267	148627267	+	Silent	SNP	C	T	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chrX:148627267C>T	uc004fdg.3	+	3	690	c.91C>T	c.(91-93)Ctg>Ttg	p.L31L	CXorf40A_uc004fdf.3_Silent_p.L31L|CXorf40A_uc011mxm.2_Silent_p.L31L|CXorf40A_uc022cgi.1_Silent_p.L31L	NM_001171907	NP_835225	Q8TE69	CX04A_HUMAN	Homo sapiens chromosome X open reading frame 40A (CXorf40A), transcript variant 2, mRNA.	31							protein binding			breast(1)|endometrium(3)|large_intestine(1)|lung(2)	7	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					GCGTCCCCTGCTGAGCAGCCA	0.592000														35			7		0	0	0.003080	0	0
BTK	695	broad.mit.edu	37	X	100613678	100613678	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chrX:100613678C>T	uc010nno.2	-	10	1236	c.1003G>A	c.(1003-1005)Gaa>Aaa	p.E335K	BTK_uc004ehf.2_5'Flank|BTK_uc010nnh.2_5'Flank|BTK_uc010nni.2_5'Flank|BTK_uc004ehe.2_5'Flank|BTK_uc010nnj.2_5'Flank|BTK_uc010nnk.2_5'Flank|BTK_uc010nnl.2_5'Flank|BTK_uc010nnm.2_5'Flank|BTK_uc004ehg.2_Missense_Mutation_p.E301K|BTK_uc010nnn.2_Missense_Mutation_p.E301K|BTK_uc004ehh.1_5'Flank|BTK_uc004ehi.3_Missense_Mutation_p.E301K	NM_000061	NP_000052	Q06187	BTK_HUMAN	Homo sapiens Bruton agammaglobulinemia tyrosine kinase (BTK), mRNA.	301	SH2.				calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development	cytosol|membrane raft|nucleus|plasma membrane	ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding	p.Y334C(1)		breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						AAACCTCCTTCTTTCCCCTGA	0.473000									Agammaglobulinemia, X-linked					123			23		0	0	0.002299	0	0
KIAA2022	340533	broad.mit.edu	37	X	73963631	73963631	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chrX:73963631G>A	uc004eby.3	-	2	1378	c.761C>T	c.(760-762)tCc>tTc	p.S254F		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	Homo sapiens KIAA2022 (KIAA2022), mRNA.	254					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						ATCCTGATTGGAATTTGCAAG	0.403000														134			19		0	0	0.000958	0	0
LAMB4	22798	broad.mit.edu	37	7	107756507	107756507	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr7:107756507G>A	uc010ljo.1	-	2	218	c.134C>T	c.(133-135)gCt>gTt	p.A45V	LAMB4_uc003vey.2_Missense_Mutation_p.A45V	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN	Homo sapiens laminin, beta 4 (LAMB4), mRNA.	45	Laminin N-terminal.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						GGTAGAAGAAGCCATAAGCTG	0.512000														102			24		0	0	0.002780	0	0
MAN2B2	23324	broad.mit.edu	37	4	6611595	6611595	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr4:6611595G>A	uc003gjf.1	+	12	2113	c.2077G>A	c.(2077-2079)Ggg>Agg	p.G693R	MAN2B2_uc003gje.1_Missense_Mutation_p.G693R|MAN2B2_uc011bwf.1_Missense_Mutation_p.G642R	NM_015274	NP_056089	Q9Y2E5	MA2B2_HUMAN	Homo sapiens mannosidase, alpha, class 2B, member 2 (MAN2B2), mRNA.	693					mannose metabolic process	extracellular region	alpha-mannosidase activity|carbohydrate binding|zinc ion binding			breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						GGGCCATGACGGGGAGCTGCT	0.592000														37			9		0	0	0.004482	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140308491	140308491	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr5:140308491G>A	uc003lih.2	+	0	2190	c.2014G>A	c.(2014-2016)Gaa>Aaa	p.E672K	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lif.2_Intron|PCDHAC2_uc003lie.1_Intron|PCDHAC2_uc003lig.1_Missense_Mutation_p.E672K	NM_018898	NP_061721	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha subfamily C, 1 (PCDHAC1), transcript variant 1, mRNA.	696	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGATGTCTGGGAACCAGGAGG	0.478000														98			33		0	0	0.002445	0	0
EIF2B5	8893	broad.mit.edu	37	3	183858487	183858487	+	Silent	SNP	C	A	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr3:183858487C>A	uc003fmp.3	+	6	1489	c.1125C>A	c.(1123-1125)acC>acA	p.T375T	EIF2B5_uc003fmq.3_Silent_p.T96T	NM_003907	NP_003898	Q13144	EI2BE_HUMAN	Homo sapiens eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa (EIF2B5), mRNA.	375					RNA metabolic process|astrocyte development|myelination|negative regulation of translational initiation in response to stress|oligodendrocyte development|ovarian follicle development|positive regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex|nucleus	guanyl-nucleotide exchange factor activity|transferase activity|translation initiation factor activity|translation initiation factor binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(5)|urinary_tract(1)	27	all_cancers(143;7.59e-11)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			GCTTTATCACCAACAGTGTCA	0.572000														66			5		0.000602214	0.00125716	0.000602	1	0
OR4N3P	390539	broad.mit.edu	37	15	22414338	22414338	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr15:22414338G>A	uc001yuf.3	+	0	877	c.637G>A	c.(637-639)Gaa>Aaa	p.E213K	abParts_uc001yuj.2_Intron					Homo sapiens olfactory receptor, family 4, subfamily N, member 3 pseudogene (OR4N3P), non-coding RNA.																		TCATAACCAGGAAGTGAAAGC	0.378000														43			5		0	0	0.000602	0	0
C7orf33	202865	broad.mit.edu	37	7	148311286	148311286	+	Silent	SNP	C	T	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr7:148311286C>T	uc003wew.3	+	1	718	c.357C>T	c.(355-357)ggC>ggT	p.G119G		NM_145304	NP_660347	Q8WU49	CG033_HUMAN	Homo sapiens chromosome 7 open reading frame 33 (C7orf33), mRNA.	119										central_nervous_system(1)|large_intestine(4)|lung(7)|prostate(2)	14	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			CCAGGATGGGCTTGTCCTCAG	0.522000														38			15		0	0	0.003163	0	0
COL11A1	1301	broad.mit.edu	37	1	103544216	103544216	+	Silent	SNP	C	T	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr1:103544216C>T	uc001dum.3	-	2	804	c.486G>A	c.(484-486)ggG>ggA	p.G162G	COL11A1_uc001dul.3_Silent_p.G162G|COL11A1_uc001dun.3_Silent_p.G162G|COL11A1_uc009weh.3_Silent_p.G162G	NM_080629	NP_542196	P12107	COBA1_HUMAN	Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript variant B, mRNA.	162	TSP N-terminal.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	p.G162W(1)|p.D161E(1)		NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TTACTTACTTCCCGTCAGCGA	0.358000														22			18		0	0	0.006122	0	0
CACNA1E	777	broad.mit.edu	37	1	181705482	181705482	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr1:181705482G>A	uc009wxt.3	+	21	3529	c.3334G>A	c.(3334-3336)Gag>Aag	p.E1112K	CACNA1E_uc001gow.3_Missense_Mutation_p.E1112K|CACNA1E_uc009wxs.3_Missense_Mutation_p.E1093K|CACNA1E_uc001gox.1_Missense_Mutation_p.E338K	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	1112					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						ggaggaggtggagaagaagaa	0.527000														7			3		0	0	0.004672	0	0
OR4N4	283694	broad.mit.edu	37	15	22382673	22382673	+	Silent	SNP	C	T	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr15:22382673C>T	uc001yuc.1	+	6	1182	c.201C>T	c.(199-201)gcC>gcT	p.A67A	abParts_uc001yuj.2_Intron|OR4N4_uc001yub.1_Non-coding_Transcript|OR4N4_uc010tzv.2_Silent_p.A67A	NM_001005241	NP_001005241	Q8N0Y3	OR4N4_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily N, member 4 (OR4N4), mRNA.	67					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		GCAACTTGGCCTTCCTGGATG	0.483000														280			49		0	0	0.003610	0	0
LRRC56	115399	broad.mit.edu	37	11	551696	551696	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr11:551696C>T	uc010qvz.2	+	9	1347	c.842C>T	c.(841-843)tCc>tTc	p.S281F		NM_198075	NP_932341	Q8IYG6	LRC56_HUMAN	Homo sapiens leucine rich repeat containing 56 (LRRC56), mRNA.	281										kidney(1)|lung(4)|skin(1)	6		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CCCGAGCTGTCCCTGCCTGAG	0.697000														13			5		0	0	0.001984	0	0
CD22	933	broad.mit.edu	37	19	35823534	35823534	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr19:35823534T>C	uc010edt.3	+	2	203	c.119T>C	c.(118-120)gTc>gCc	p.V40A	CD22_uc010edu.3_Missense_Mutation_p.V40A|CD22_uc010edv.3_Missense_Mutation_p.V40A|CD22_uc002nzb.4_Missense_Mutation_p.V40A|CD22_uc010xst.2_5'UTR	NM_001771	NP_001762	P20273	CD22_HUMAN	Homo sapiens CD22 molecule (CD22), transcript variant 1, mRNA.	40	Ig-like V-type.				cell adhesion		protein binding|sugar binding	p.V40V(1)		breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		OspA lipoprotein(DB00045)	GGGGCCTGCGTCTGGATCCCC	0.502000														71			10		0	0	0.000673	0	0
ZNF354B	117608	broad.mit.edu	37	5	178310383	178310383	+	Missense_Mutation	SNP	G	C	C			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr5:178310383G>C	uc003mjl.3	+	4	1156	c.930G>C	c.(928-930)agG>agC	p.R310S	ZNF354B_uc003mjm.3_Missense_Mutation_p.R310S	NM_058230	NP_478137	Q96LW1	Z354B_HUMAN	Homo sapiens zinc finger protein 354B (ZNF354B), mRNA.	310					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(7)|liver(2)|lung(2)|ovary(2)|stomach(3)|urinary_tract(1)	21	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCAGTCGAAGGTCTGGGCTTT	0.413000														52			9		0	0	0.004482	0	0
RTN4	57142	broad.mit.edu	37	2	55252222	55252222	+	Splice_Site	SNP	C	T	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr2:55252222C>T	uc002rye.3	-	3	3311	c.3013_splice	c.e3+1	p.V1005_splice	RTN4_uc002ryd.3_Splice_Site_p.V799_splice|RTN4_uc002ryf.3_Intron|RTN4_uc002ryg.3_Intron	NM_020532	NP_997404	Q9NQC3	RTN4_HUMAN	Homo sapiens reticulon 4 (RTN4), transcript variant 1, mRNA.	1005	Reticulon.				apoptosis|axonal fasciculation|cerebral cortex radial glia guided migration|endoplasmic reticulum tubular network organization|negative regulation of anti-apoptosis|negative regulation of axon extension|nerve growth factor receptor signaling pathway|regulation of apoptosis|regulation of branching morphogenesis of a nerve|regulation of cell migration	integral to endoplasmic reticulum membrane|nuclear envelope|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1)	36						ATTGGATTACCTGAAGTTTTA	0.353000														49			23		0	0	0.003330	0	0
UBR4	23352	broad.mit.edu	37	1	19407947	19407947	+	Silent	SNP	A	T	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr1:19407947A>T	uc001bbi.3	-	102	15133	c.15129T>A	c.(15127-15129)ctT>ctA	p.L5043L	UBR4_uc001bbf.3_5'UTR|UBR4_uc010ocv.2_Silent_p.L566L|UBR4_uc009vph.3_Silent_p.L677L|UBR4_uc010ocw.2_Silent_p.L707L|UBR4_uc001bbg.3_Silent_p.L754L|UBR4_uc001bbh.3_Silent_p.L752L	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 4 (UBR4), mRNA.	5043					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)		GCAGGATGTGAAGGGCCAAGA	0.582000														175			35		0	0	0.004289	0	0
JAG2	3714	broad.mit.edu	37	14	105612994	105612994	+	Nonsense_Mutation	SNP	A	C	C			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr14:105612994A>C	uc001yqg.3	-	20	2951	c.2547T>G	c.(2545-2547)taT>taG	p.Y849*	JAG2_uc001yqf.3_Nonsense_Mutation_p.Y253*|JAG2_uc001yqh.3_Nonsense_Mutation_p.Y811*	NM_002226	NP_002217	Q9Y219	JAG2_HUMAN	Homo sapiens jagged 2 (JAG2), transcript variant 1, mRNA.	849	EGF-like 16; calcium-binding (Potential).				Notch receptor processing|Notch signaling pathway|auditory receptor cell fate commitment|cell communication|cell cycle|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection	integral to plasma membrane	Notch binding|calcium ion binding|growth factor activity			breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		AGCTACAGCGATACCCGTTGA	0.677000														13			4		0	0	0.000248	0	0
SRL	6345	broad.mit.edu	37	16	4254574	4254574	+	Silent	SNP	G	A	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr16:4254574G>A	uc002cvz.4	-	1	136	c.123C>T	c.(121-123)acC>acT	p.T41T	SRL_uc002cvy.4_Non-coding_Transcript	NM_001098814	NP_001092284	Q86TD4	SRCA_HUMAN	Homo sapiens sarcalumenin (SRL), mRNA.	500	Acidic domain, probably binds calcium (By similarity).					sarcoplasmic reticulum lumen	GTP binding|GTPase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(3)	21						TCAGCATGAGGGTCTTCTCGA	0.582000														64			39		0	0	0.003610	0	0
ZNF670	93474	broad.mit.edu	37	1	247201394	247201394	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr1:247201394T>C	uc001icd.2	-	3	744	c.527A>G	c.(526-528)aAg>aGg	p.K176R	ZNF695_uc001ica.3_Intron|ZNF695_uc001icb.2_Intron|ZNF670_uc021plz.1_Missense_Mutation_p.K175R	NM_033213	NP_149990	Q9BS34	ZN670_HUMAN	Homo sapiens zinc finger protein 670 (ZNF670), transcript variant 1, mRNA.	176					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	17	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00427)			ATCAAAAGGCTTCTCATACAC	0.383000														38			21		0	0	0.001523	0	0
SPEG	10290	broad.mit.edu	37	2	220356953	220356953	+	Silent	SNP	C	T	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr2:220356953C>T	uc010fwg.3	+	39	9582	c.9582C>T	c.(9580-9582)ttC>ttT	p.F3194F		NM_005876	NP_005867	Q15772	SPEG_HUMAN	Homo sapiens SPEG complex locus (SPEG), transcript variant 1, mRNA.	3194	Protein kinase 2.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CCACCCTCTTCTTGCGAAAGG	0.602000														36			20		0	0	0.002780	0	0
ACOXL	55289	broad.mit.edu	37	2	111666434	111666435	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr2:111666434_111666435GG>AA	uc010yxk.1	+	10	1081_1082	c.857_858GG>AA	c.(856-858)cgg>cAA	p.R286Q	ACOXL_uc021vmm.1_Missense_Mutation_p.R109Q|ACOXL_uc021vmn.1_Missense_Mutation_p.R109Q	NM_001142807	NP_001136279	Q9NUZ1	ACOXL_HUMAN	Homo sapiens acyl-CoA oxidase-like (ACOXL), mRNA.	286					fatty acid beta-oxidation	peroxisome	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity			kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(1)	21						CAGACCCTGCGGCTGATGCCCC	0.545000														52			35		0	0	0.004672	0	0
OR10R2	343406	broad.mit.edu	37	1	158450091	158450091	+	Missense_Mutation	SNP	C	T	T	rs138574952		TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr1:158450091C>T	uc010pik.2	+	0	424	c.424C>T	c.(424-426)Cgc>Tgc	p.R142C	AK057554_uc001fso.1_Non-coding_Transcript	NM_001004472	NP_001004472	Q8NGX6	O10R2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily R, member 2 (OR10R2), mRNA.	142					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R142C(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41	all_hematologic(112;0.0378)					GGGTTATGATCGCTATGCTGC	0.498000														191			42		0	0	0.003610	0	0
HAL	3034	broad.mit.edu	37	12	96379885	96379885	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr12:96379885G>A	uc001tem.1	-	12	1402	c.1105C>T	c.(1105-1107)Cgg>Tgg	p.R369W	HAL_uc010sux.1_Missense_Mutation_p.R369W|HAL_uc009zti.1_Non-coding_Transcript|HAL_uc010suw.1_Missense_Mutation_p.R161W	NM_002108	NP_002099	P42357	HUTH_HUMAN	Homo sapiens histidine ammonia-lyase (HAL), mRNA.	369					biosynthetic process|histidine catabolic process	cytosol	histidine ammonia-lyase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	34					L-Histidine(DB00117)	AAGAGTGACCGAAACCGAAAA	0.403000														32			22		0	0	0.003954	0	0
OR6C2	341416	broad.mit.edu	37	12	55846227	55846227	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr12:55846227C>T	uc001sgz.1	+	0	230	c.230C>T	c.(229-231)cCc>cTc	p.P77L		NM_054105	NP_473446	Q9NZP2	OR6C2_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 2 (OR6C2), mRNA.	77					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						GTCTGCATTCCCAGATTCTTG	0.373000														104			35		0	0	0.003755	0	0
KIF1A	547	broad.mit.edu	37	2	241728654	241728654	+	Splice_Site	SNP	G	A	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr2:241728654G>A	uc010fzk.3	-	3	430	c.183_splice	c.e3+1	p.S61_splice	KIF1A_uc002vzy.3_Splice_Site_p.S61_splice|KIF1A_uc002vzz.2_Splice_Site_p.S61_splice	NM_001244008	NP_001230937	Q12756	KIF1A_HUMAN	Homo sapiens kinesin family member 1A (KIF1A), transcript variant 1, mRNA.	61	Kinesin-motor.				anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		CCGGCTTACTGAGGTGTGCGA	0.602000														30			15		0	0	0.004007	0	0
PAX7	5081	broad.mit.edu	37	1	18958101	18958101	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr1:18958101G>A	uc001bay.3	+	0	602	c.4G>A	c.(4-6)Gcg>Acg	p.A2T	PAX7_uc001baz.3_Missense_Mutation_p.A2T|PAX7_uc010oct.2_Missense_Mutation_p.A2T	NM_002584	NP_002575	P23759	PAX7_HUMAN	Homo sapiens paired box 7 (PAX7), transcript variant 1, mRNA.	2					anti-apoptosis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		PAX7/FOXO1(197)	breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)	31		Colorectal(325;3.46e-05)|all_lung(284;0.000439)|Renal(390;0.000518)|Lung NSC(340;0.000543)|Breast(348;0.00093)|Ovarian(437;0.00768)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00609)|BRCA - Breast invasive adenocarcinoma(304;4.71e-05)|Kidney(64;0.000279)|KIRC - Kidney renal clear cell carcinoma(64;0.00371)|STAD - Stomach adenocarcinoma(196;0.00658)|READ - Rectum adenocarcinoma(331;0.0576)		CGCAAGAATGGCGGCCCTTCC	0.622000			T	FOXO1A	alveolar rhabdomyosarcoma									17			9		0	0	0.000673	0	0
CR1	1378	broad.mit.edu	37	1	207803915	207803915	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr1:207803915G>A	uc001hfy.3	+	37	6196	c.6056G>A	c.(6055-6057)gGa>gAa	p.G2019E	CR1_uc001hfx.3_Missense_Mutation_p.G2469E|CR1_uc021pij.1_Missense_Mutation_p.G2019E	NM_000573	NP_000564	P17927	CR1_HUMAN	Homo sapiens complement component (3b/4b) receptor 1 (Knops blood group) (CR1), transcript variant F, mRNA.	2019					complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						CATTCTCAAGGAGGCAGCAGC	0.343000														15			15		0	0	0.004990	0	0
EEF1E1	9521	broad.mit.edu	37	6	8097525	8097525	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr6:8097525T>C	uc003mxz.3	-	1	337	c.263A>G	c.(262-264)aAa>aGa	p.K88R	TXNDC5_uc021ylg.1_Non-coding_Transcript|EEF1E1_uc011dic.2_Missense_Mutation_p.K88R	NM_004280	NP_004271	O43324	MCA3_HUMAN	Homo sapiens eukaryotic translation elongation factor 1 epsilon 1 (EEF1E1), transcript variant 1, mRNA.	88	GST C-terminal.				negative regulation of cell proliferation|positive regulation of DNA damage response, signal transduction by p53 class mediator|positive regulation of apoptosis|tRNA aminoacylation for protein translation	cytosol|nucleus				endometrium(1)|prostate(1)	2	Ovarian(93;0.0398)					GATGTCATTTTTACTGGAGTG	0.413000														93			37		0	0	0.002222	0	0
HES2	54626	broad.mit.edu	37	1	6479858	6479858	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr1:6479858C>T	uc001amx.3	-	0	122	c.23G>A	c.(22-24)gGg>gAg	p.G8E	HES2_uc001amw.3_Missense_Mutation_p.G8E	NM_019089	NP_061962	Q9Y543	HES2_HUMAN	Homo sapiens hairy and enhancer of split 2 (Drosophila) (HES2), mRNA.	8					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				lung(1)|ovary(1)	2	Ovarian(185;0.0634)|all_lung(157;0.154)	all_cancers(23;1.05e-30)|all_epithelial(116;1.37e-17)|all_hematologic(16;1.81e-05)|all_lung(118;2.27e-05)|Acute lymphoblastic leukemia(12;4.98e-05)|Lung NSC(185;9.97e-05)|Colorectal(325;0.0002)|all_neural(13;0.000531)|Renal(390;0.00188)|Breast(487;0.00475)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;1.02e-35)|GBM - Glioblastoma multiforme(13;1.75e-28)|Colorectal(212;6.1e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000888)|BRCA - Breast invasive adenocarcinoma(365;0.00106)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)		CGCCGCGTCCCCTGCCCGGCG	0.751000														6			3		0	0	0.000602	0	0
CXADRP2	646243	broad.mit.edu	37	15	22016259	22016259	+	Missense_Mutation	SNP	T	C	C	rs140087837	by1000genomes	TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr15:22016259T>C	uc010tzk.1	-	0	620	c.458A>G	c.(457-459)gAc>gGc	p.D153G						Homo sapiens coxsackie virus and adenovirus receptor pseudogene 2 (CXADRP2), non-coding RNA.																		TTTCTGTGAGTCAGACAATTT	0.363000														42			5		0	0	0.004990	0	0
P4HA3	283208	broad.mit.edu	37	11	73997389	73997389	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr11:73997389G>A	uc010rrj.2	-	5	860	c.817C>T	c.(817-819)Ctc>Ttc	p.L273F	P4HA3_uc001ouy.4_Non-coding_Transcript|P4HA3_uc001ouz.3_Missense_Mutation_p.L273F			Q7Z4N8	P4HA3_HUMAN	Homo sapiens prolyl 4-hydroxylase, alpha polypeptide III (P4HA3), mRNA.	273						endoplasmic reticulum lumen	L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity	p.R272S(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(1)	15	Breast(11;2.31e-05)					TCTGCCAAGAGCCTTTCATAT	0.498000														137			23		0	0	0.003954	0	0
SMC4	10051	broad.mit.edu	37	3	160135741	160135741	+	Silent	SNP	G	A	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr3:160135741G>A	uc003fdh.3	+	10	1781	c.1668G>A	c.(1666-1668)aaG>aaA	p.K556K	IFT80_uc003fda.3_Intron|SMC4_uc010hwc.1_Silent_p.K320K|SMC4_uc003fdi.3_Silent_p.K531K|SMC4_uc003fdj.3_Silent_p.K556K|SMC4_uc010hwd.3_Silent_p.K556K|SMC4_uc003fdl.3_Silent_p.K259K	NM_001002800	NP_005487	Q9NTJ3	SMC4_HUMAN	Homo sapiens structural maintenance of chromosomes 4 (SMC4), transcript variant 2, mRNA.	556					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			AAGAATTAAAGGAGGTAAATC	0.388000														11			5		0	0	0.000602	0	0
XKR6	286046	broad.mit.edu	37	8	10756188	10756188	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr8:10756188C>T	uc003wtk.1	-	2	1227	c.1200G>A	c.(1198-1200)tgG>tgA	p.W400*		NM_173683	NP_775954	Q5GH73	XKR6_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 6 (XKR6), transcript variant 2, mRNA.	400						integral to membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3)	31				Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)		CATGGATGATCCAGAAGGCCA	0.502000														52			13		0	0	0.001855	0	0
FAM47C	442444	broad.mit.edu	37	X	37029343	37029343	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chrX:37029343G>A	uc004ddl.2	+	0	2912	c.2860G>A	c.(2860-2862)Gat>Aat	p.D954N		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	Homo sapiens family with sequence similarity 47, member C (FAM47C), mRNA.	954										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GCTAAGAAGTGATGAACCTTT	0.438000														133			15		0	0	0.004990	0	0
DNAH5	1767	broad.mit.edu	37	5	13841969	13841969	+	Silent	SNP	C	T	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr5:13841969C>T	uc003jfd.2	-	32	5358	c.5316G>A	c.(5314-5316)acG>acA	p.T1772T		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	1772	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)					CCAATTCAATCGTCTCACCCT	0.353000									Kartagener syndrome					82			36		0	0	0.001485	0	0
CCDC148	130940	broad.mit.edu	37	2	159166112	159166112	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr2:159166112T>C	uc002tzq.3	-	8	1257	c.943A>G	c.(943-945)Ata>Gta	p.I315V	CCDC148_uc002tzr.3_Missense_Mutation_p.I163V|CCDC148_uc010foh.3_Missense_Mutation_p.I28V|CCDC148_uc010fok.2_Missense_Mutation_p.I229V|CCDC148_uc010foi.2_Missense_Mutation_p.I262V|CCDC148_uc010foj.2_Missense_Mutation_p.I163V	NM_138803	NP_620158	Q8NFR7	CC148_HUMAN	Homo sapiens coiled-coil domain containing 148 (CCDC148), transcript variant 1, mRNA.	315										endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						TGCTGCTCTATAGCAAAGCGA	0.353000														60			18		0	0	0.001523	0	0
SAMSN1	64092	broad.mit.edu	37	21	15882726	15882726	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr21:15882726C>T	uc002yju.1	-	4	548	c.466G>A	c.(466-468)Gac>Aac	p.D156N	SAMSN1_uc010gky.1_Intron|SAMSN1_uc002yjv.1_Missense_Mutation_p.D224N	NM_022136	NP_071419	Q9NSI8	SAMN1_HUMAN	Homo sapiens SAM domain, SH3 domain and nuclear localization signals 1 (SAMSN1), transcript variant 1, mRNA.	156					negative regulation of B cell activation|negative regulation of adaptive immune response|negative regulation of peptidyl-tyrosine phosphorylation	cytoplasm|nucleus|ruffle	phosphotyrosine binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	24				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)		GGGCCATCGTCATCCAGTCGA	0.488000														41			10		0	0	0.000673	0	0
PGD	5226	broad.mit.edu	37	1	10471493	10471493	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr1:10471493G>A	uc001arc.3	+	6	628	c.538G>A	c.(538-540)Ggc>Agc	p.G180S	PGD_uc010oak.2_Missense_Mutation_p.G158S	NM_002631	NP_002622	P52209	6PGD_HUMAN	Homo sapiens phosphogluconate dehydrogenase (PGD), mRNA.	180					pentose-phosphate shunt, oxidative branch	cytosol	NADP binding|phosphogluconate dehydrogenase (decarboxylating) activity|protein binding			NS(1)|breast(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	14	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.00832)|READ - Rectum adenocarcinoma(331;0.0487)		TGAGGGAGCAGGCCACTTCGT	0.537000														23			6		0	0	0.001984	0	0
STON1-GTF2A1L	286749	broad.mit.edu	37	2	48906503	48906503	+	Silent	SNP	C	T	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr2:48906503C>T	uc002rwp.2	+	10	3585	c.3471C>T	c.(3469-3471)ttC>ttT	p.F1157F	STON1-GTF2A1L_uc021vhf.1_Intron|STON1-GTF2A1L_uc010yol.2_Silent_p.F1110F|STON1-GTF2A1L_uc002rws.2_Silent_p.F453F|STON1-GTF2A1L_uc010yom.2_Silent_p.F419F	NM_172311	NP_758515	B7ZL16	B7ZL16_HUMAN	Homo sapiens STON1-GTF2A1L readthrough (STON1-GTF2A1L), transcript variant 1, mRNA.	1110					endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(22)|liver(2)|lung(49)|ovary(3)|pancreas(1)|prostate(4)|skin(4)	91		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			AATGGAAATTCTATTTGAAAG	0.368000														70			34		0	0	0.001485	0	0
OTOGL	283310	broad.mit.edu	37	12	80704414	80704414	+	Silent	SNP	T	A	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr12:80704414T>A	uc001szd.3	+	28	3336	c.3330T>A	c.(3328-3330)atT>atA	p.I1110I		NM_173591	NP_775862			Homo sapiens otogelin-like (OTOGL), mRNA.											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						ATGAAACAATTAAACCCTGTG	0.353000														84			24		0	0	0.003954	0	0
CDH9	1007	broad.mit.edu	37	5	26903764	26903764	+	Silent	SNP	C	G	G			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr5:26903764C>G	uc003jgs.1	-	5	1150	c.981G>C	c.(979-981)ggG>ggC	p.G327G	CDH9_uc010iug.3_Silent_p.G327G	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN	Homo sapiens cadherin 9, type 2 (T1-cadherin) (CDH9), mRNA.	327	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						CAGTTATAATCCCTTCCTGTG	0.408000														99			60		0	0	0.003610	0	0
RHBG	57127	broad.mit.edu	37	1	156351238	156351238	+	Silent	SNP	G	A	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr1:156351238G>A	uc010pho.2	+	4	812	c.774G>A	c.(772-774)ctG>ctA	p.L258L	RHBG_uc010phm.1_Silent_p.L96L|RHBG_uc010phn.1_Non-coding_Transcript|RHBG_uc001fos.3_Silent_p.L189L|RHBG_uc009wrz.3_Silent_p.L226L|RHBG_uc001for.3_Silent_p.L228L	NM_020407	NP_065140	Q9H310	RHBG_HUMAN	Homo sapiens Rh family, B glycoprotein (gene/pseudogene) (RHBG), transcript variant 1, mRNA.	258					transepithelial ammonium transport	anchored to plasma membrane|basolateral plasma membrane|cytoplasmic vesicle membrane|integral to plasma membrane|spectrin-associated cytoskeleton	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	22	Hepatocellular(266;0.158)					ACTACTCCCTGGCTGCCAGCA	0.592000														42			28		0	0	0.001786	0	0
STAT4	6775	broad.mit.edu	37	2	191898252	191898252	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr2:191898252C>T	uc002usm.2	-	19	2131	c.1816G>A	c.(1816-1818)Gga>Aga	p.G606R	STAT4_uc002usn.2_Missense_Mutation_p.G606R|STAT4_uc010zgk.1_Missense_Mutation_p.G451R|STAT4_uc002uso.2_Missense_Mutation_p.G606R	NM_003151	NP_003142	Q14765	STAT4_HUMAN	Homo sapiens signal transducer and activator of transcription 4 (STAT4), transcript variant 1, mRNA.	606	SH2.				JAK-STAT cascade	cytoplasm|nucleus	calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)			AAAGTTATTCCTCCGAGATGG	0.378000														47			22		0	0	0.001882	0	0
VPS13D	55187	broad.mit.edu	37	1	12359375	12359375	+	Silent	SNP	G	A	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr1:12359375G>A	uc001atv.3	+	24	6291	c.6150G>A	c.(6148-6150)ggG>ggA	p.G2050G	VPS13D_uc001atw.3_Silent_p.G2050G|VPS13D_uc001atx.3_Silent_p.G1238G	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog D (S. cerevisiae) (VPS13D), transcript variant 1, mRNA.	2050					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		CAAATTTGGGGAAGTTGAAAG	0.428000														58			31		0	0	0.002836	0	0
KLHL4	56062	broad.mit.edu	37	X	86880700	86880701	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chrX:86880700_86880701CC>TT	uc004efa.2	+	5	1410_1411	c.1228_1229CC>TT	c.(1228-1230)cct>TTt	p.P410F	KLHL4_uc004efb.2_Missense_Mutation_p.P410F	NM_057162	NP_476503	Q9C0H6	KLHL4_HUMAN	Homo sapiens kelch-like 4 (Drosophila) (KLHL4), transcript variant 2, mRNA.	410						cytoplasm|microtubule cytoskeleton|nucleolus	actin binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						TCATCTTTTGCCTGAGAGAAGA	0.436000														33			6		0	0	0.004672	0	0
TM9SF4	9777	broad.mit.edu	37	20	30730862	30730862	+	Silent	SNP	C	T	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr20:30730862C>T	uc002wxj.2	+	5	841	c.606C>T	c.(604-606)taC>taT	p.Y202Y	TM9SF4_uc010ztr.1_Silent_p.Y128Y|TM9SF4_uc010zts.1_Silent_p.Y109Y|TM9SF4_uc002wxk.2_Silent_p.Y185Y	NM_014742	NP_055557	Q92544	TM9S4_HUMAN	Homo sapiens transmembrane 9 superfamily protein member 4 (TM9SF4), mRNA.	202						integral to membrane				central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			AGCACACGTACCGTGTCGTCC	0.582000														36			20		0	0	0.001523	0	0
DSG2	1829	broad.mit.edu	37	18	29104710	29104710	+	Silent	SNP	G	A	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr18:29104710G>A	uc002kwu.4	+	7	1061	c.873G>A	c.(871-873)acG>acA	p.T291T		NM_001943	NP_001934	Q14126	DSG2_HUMAN	Homo sapiens desmoglein 2 (DSG2), mRNA.	291	Cadherin 3.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			TAGAAGTTACGCGCATAAAAG	0.333000														41			12		0	0	0.001855	0	0
FAM59A	64762	broad.mit.edu	37	18	29867779	29867779	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr18:29867779C>T	uc002kxl.3	-	3	837	c.781G>A	c.(781-783)Gac>Aac	p.D261N	FAM59A_uc002kxk.2_Missense_Mutation_p.D261N	NM_001242409	NP_001229338	Q9H706	FA59A_HUMAN	Homo sapiens family with sequence similarity 59, member A (FAM59A), transcript variant 1, mRNA.	261	CABIT.									endometrium(9)|kidney(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	36						AAGTGGAGGTCGTATGGGTTT	0.537000														106			25		0	0	0.001786	0	0
ZNF114	163071	broad.mit.edu	37	19	48789581	48789582	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr19:48789581_48789582GG>AA	uc002pil.1	+	5	1197_1198	c.700_701GG>AA	c.(700-702)gga>AAa	p.G234K	ZNF114_uc010elv.1_Missense_Mutation_p.G234K|ZNF114_uc002pim.1_Missense_Mutation_p.G234K|ZNF114_uc002pin.2_Missense_Mutation_p.G200K	NM_153608	NP_705836	Q8NC26	ZN114_HUMAN	Homo sapiens zinc finger protein 114 (ZNF114), mRNA.	234					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(6)|lung(11)	18		all_epithelial(76;8.01e-05)|all_lung(116;0.000112)|Lung NSC(112;0.000192)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;7.56e-05)|all cancers(93;0.000113)|Epithelial(262;0.00962)|GBM - Glioblastoma multiforme(486;0.0153)		CCGTGAAGACGGATCCCTTAGG	0.470000														67			27		0	0	0.004672	0	0
FAM75E1	286234	broad.mit.edu	37	9	90502618	90502618	+	Silent	SNP	C	A	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr9:90502618C>A	uc004app.4	+	3	3251	c.3216C>A	c.(3214-3216)acC>acA	p.T1072T		NM_178828	NP_849150	Q6ZUB1	CI079_HUMAN	Homo sapiens chromosome 9 open reading frame 79 (C9orf79), mRNA.	1072						integral to membrane											CTCTGGGGACCACTGGTAACC	0.587000														48			35		4.14481e-20	8.79437e-20	0.001287	1	0
FOXE1	2304	broad.mit.edu	37	9	100616457	100616457	+	Silent	SNP	C	T	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr9:100616457C>T	uc004axu.3	+	0	921	c.261C>T	c.(259-261)ttC>ttT	p.F87F		NM_004473	NP_004464	O00358	FOXE1_HUMAN	Homo sapiens forkhead box E1 (thyroid transcription factor 2) (FOXE1), mRNA.	87					cell migration|embryonic organ morphogenesis|hair follicle morphogenesis|hard palate development|lens morphogenesis in camera-type eye|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|peripheral nervous system development|pharynx development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|soft palate development|thymus development|thyroid gland development|thyroid hormone generation	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			central_nervous_system(1)|endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	5		Acute lymphoblastic leukemia(62;0.158)				CCGAGCGCTTCCCCTTCTACC	0.647000														32			11		0	0	0.000673	0	0
CHRNB4	1143	broad.mit.edu	37	15	78921679	78921679	+	Missense_Mutation	SNP	G	A	A	rs146608683		TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr15:78921679G>A	uc002bed.1	-	4	1080	c.968C>T	c.(967-969)tCg>tTg	p.S323L	CHRNB4_uc002bee.1_Intron|CHRNB4_uc010blh.1_Missense_Mutation_p.S141L	NM_000750	NP_000741	P30926	ACHB4_HUMAN	Homo sapiens cholinergic receptor, nicotinic, beta 4 (CHRNB4), mRNA.	323					regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			endometrium(7)|kidney(1)|lung(13)|prostate(1)	22						GGTGCTGGGCGAGCGGTGGTG	0.612000														48			14		0	0	0.004007	0	0
PLEKHG4B	153478	broad.mit.edu	37	5	173029	173029	+	Silent	SNP	G	A	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr5:173029G>A	uc003jak.2	+	14	3050	c.3000G>A	c.(2998-3000)caG>caA	p.Q1000Q		NM_052909	NP_443141	Q96PX9	PKH4B_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 4B (PLEKHG4B), mRNA.	1000	PH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		TGAAGGAACAGGGGCAGCTGA	0.498000														64			31		0	0	0.004289	0	0
SPHKAP	80309	broad.mit.edu	37	2	228884529	228884529	+	Silent	SNP	G	A	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr2:228884529G>A	uc002vpq.2	-	6	1088	c.1041C>T	c.(1039-1041)tcC>tcT	p.S347S	SPHKAP_uc002vpp.2_Silent_p.S347S|SPHKAP_uc010zlx.1_Silent_p.S347S	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	347						cytoplasm	protein binding	p.S347T(1)		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)		TATCCATCATGGAGAAATAAG	0.423000														83			40		0	0	0.001485	0	0
KRT79	338785	broad.mit.edu	37	12	53228034	53228034	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr12:53228034G>A	uc001sbb.3	-	0	44	c.11C>T	c.(10-12)tCc>tTc	p.S4F		NM_175834	NP_787028	Q5XKE5	K2C79_HUMAN	Homo sapiens keratin 79 (KRT79), mRNA.	4	Head.					keratin filament	structural molecule activity	p.S3P(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CCGAGAGACGGAGGACCTCAT	0.612000														27			6		0	0	0.001168	0	0
MST1P2	11209	broad.mit.edu	37	1	16976354	16976354	+	RNA	SNP	C	T	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr1:16976354C>T	uc010och.2	+	12		c.2199C>T			MST1P2_uc009vox.3_Non-coding_Transcript|MST1P2_uc001azm.4_Non-coding_Transcript					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 2 (MST1P2), non-coding RNA.																		ATGTCATCTCCAACCAGGAGT	0.572000														67			9		0	0	0.001523	0	0
OR6C4	341418	broad.mit.edu	37	12	55945442	55945442	+	Silent	SNP	C	T	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr12:55945442C>T	uc010spp.2	+	0	432	c.432C>T	c.(430-432)ttC>ttT	p.F144F		NM_001005494	NP_001005494	Q8NGE1	OR6C4_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 4 (OR6C4), mRNA.	144					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	11						AACTAGTGTTCTGCTCCTGGT	0.463000														131			43		0	0	0.002522	0	0
P2RX2	22953	broad.mit.edu	37	12	133197092	133197092	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr12:133197092G>A	uc001ukk.1	+	6	697	c.697G>A	c.(697-699)Gac>Aac	p.D233N	P2RX2_uc001uki.1_Missense_Mutation_p.D233N|P2RX2_uc001ukj.1_Missense_Mutation_p.D233N|P2RX2_uc001ukl.1_Missense_Mutation_p.D209N|P2RX2_uc001ukm.1_Missense_Mutation_p.D161N|P2RX2_uc001ukn.1_Missense_Mutation_p.D141N|P2RX2_uc009zyt.1_Missense_Mutation_p.D233N|P2RX2_uc001uko.1_Missense_Mutation_p.R197Q	NM_170683	NP_733783	Q9UBL9	P2RX2_HUMAN	Homo sapiens purinergic receptor P2X, ligand-gated ion channel, 2 (P2RX2), transcript variant 4, mRNA.	233					positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling|protein homooligomerization	integral to membrane	ATP binding|extracellular ATP-gated cation channel activity|identical protein binding|purinergic nucleotide receptor activity	p.D233N(2)		NS(1)|breast(1)|kidney(2)|large_intestine(2)|liver(2)|lung(8)|ovary(1)|prostate(3)	20	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0767)		OV - Ovarian serous cystadenocarcinoma(86;2.32e-08)|Epithelial(86;8.62e-08)|all cancers(50;4.5e-06)		CGAGGCCTCCGACCTCTACTG	0.632000														41			19		0	0	0.000958	0	0
P2RY14	9934	broad.mit.edu	37	3	150931937	150931937	+	Silent	SNP	G	A	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr3:150931937G>A	uc003eyr.1	-	2	646	c.168C>T	c.(166-168)ttC>ttT	p.F56F	MED12L_uc003eyp.3_Intron|MED12L_uc011bnz.2_Intron|P2RY14_uc003eys.1_Silent_p.F56F|P2RY14_uc021xfz.1_Silent_p.F56F	NM_001081455	NP_055694	Q15391	P2Y14_HUMAN	Homo sapiens purinergic receptor P2Y, G-protein coupled, 14 (P2RY14), transcript variant 1, mRNA.	56						integral to membrane|plasma membrane	UDP-activated nucleotide receptor activity|purinergic nucleotide receptor activity, G-protein coupled			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1)	20			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GATAGATGATGAAACTCTTAG	0.443000														69			10		0	0	0.000978	0	0
abParts	0	broad.mit.edu	37	2	90199187	90199187	+	RNA	SNP	C	T	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr2:90199187C>T	uc010yts.2	+	35		c.4581C>T								Parts of antibodies, mostly variable regions.																		CTAACAGTTTCCCTCCCACAG	0.532000														96			37		0	0	0.003610	0	0
GDF2	2658	broad.mit.edu	37	10	48413970	48413970	+	Missense_Mutation	SNP	G	C	C			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr10:48413970G>C	uc001jfa.1	-	1	1058	c.898C>G	c.(898-900)Cac>Gac	p.H300D		NM_016204	NP_057288	Q9UK05	GDF2_HUMAN	Homo sapiens growth differentiation factor 2 (GDF2), mRNA.	300					BMP signaling pathway|activin receptor signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of DNA replication|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	28						TCCTCCTCGTGACTGCTCTCA	0.622000														30			26		0	0	0.005443	0	0
LRRC3B	116135	broad.mit.edu	37	3	26751901	26751901	+	Silent	SNP	G	A	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr3:26751901G>A	uc003cdp.3	+	1	1327	c.738G>A	c.(736-738)caG>caA	p.Q246Q	LRRC3B_uc003cdq.3_Silent_p.Q246Q|LRRC3B_uc021wuj.1_Silent_p.Q246Q	NM_052953	NP_443185	Q96PB8	LRC3B_HUMAN	Homo sapiens leucine rich repeat containing 3B (LRRC3B), mRNA.	246						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	21						CAAGCAGGCAGAAGAAAGCAG	0.423000														19			9		0	0	0.000673	0	0
DOCK10	55619	broad.mit.edu	37	2	225739009	225739009	+	Silent	SNP	G	A	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr2:225739009G>A	uc010fwz.1	-	9	1314	c.1075C>T	c.(1075-1077)Ctg>Ttg	p.L359L	DOCK10_uc002vob.2_Silent_p.L353L|DOCK10_uc002vod.1_Silent_p.L359L	NM_014689	NP_055504	Q96BY6	DOC10_HUMAN	Homo sapiens dedicator of cytokinesis 10 (DOCK10), mRNA.	359							GTP binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		AGAGAGAACAGATTTAGCCTC	0.333000														22			8		0	0	0.001368	0	0
ADAM7	8756	broad.mit.edu	37	8	24333986	24333986	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr8:24333986G>A	uc003xeb.3	+	7	787	c.674G>A	c.(673-675)cGa>cAa	p.R225Q	ADAM7_uc003xec.3_5'UTR	NM_003817	NP_003808	Q9H2U9	ADAM7_HUMAN	Homo sapiens ADAM metallopeptidase domain 7 (ADAM7), mRNA.	225	Peptidase M12B.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	p.R225Q(2)		NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		CTAAGGAACCGAATTTGGGGA	0.333000														37			14		0	0	0.006122	0	0
ZFPM2	23414	broad.mit.edu	37	8	106815700	106815700	+	Silent	SNP	C	T	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr8:106815700C>T	uc003ymd.3	+	7	3413	c.3390C>T	c.(3388-3390)aaC>aaT	p.N1130N	ZFPM2_uc011lhs.2_Silent_p.N861N	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	Homo sapiens zinc finger protein, multitype 2 (ZFPM2), mRNA.	1130					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			AGTTCAACAACCTTTCAAACT	0.408000														29			12		0	0	0.000978	0	0
PPP1R9A	55607	broad.mit.edu	37	7	94881170	94881170	+	Splice_Site	SNP	G	A	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr7:94881170G>A	uc003unp.3	+	10	2709	c.2427_splice	c.e10+1	p.R809_splice	PPP1R9A_uc010lfj.3_Splice_Site_p.R831_splice|PPP1R9A_uc011kif.2_Splice_Site_p.R809_splice|PPP1R9A_uc003unq.3_Splice_Site_p.R809_splice|PPP1R9A_uc011kig.2_Splice_Site_p.R809_splice	NM_017650	NP_060120	Q9ULJ8	NEB1_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 9A (PPP1R9A), transcript variant 4, mRNA.	809	Interacts with TGN38 (By similarity).					cell junction|synapse|synaptosome	actin binding			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)			TCCAAGTGCGGGTAAGTTGTG	0.383000										HNSCC(28;0.073)				58			8		0	0	0.004482	0	0
GJA8	2703	broad.mit.edu	37	1	147380211	147380211	+	Silent	SNP	C	T	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr1:147380211C>T	uc021ovm.1	+	0	129	c.129C>T	c.(127-129)ttC>ttT	p.F43F	GJA8_uc001epu.2_Silent_p.F43F	NM_005267	NP_005258	P48165	CXA8_HUMAN	Homo sapiens gap junction protein, alpha 8, 50kDa (GJA8), mRNA.	43					cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					CCGCAGAGTTCGTGTGGGGGG	0.592000														58			8		0	0	0.003080	0	0
LSM11	134353	broad.mit.edu	37	5	157178450	157178450	+	Silent	SNP	G	A	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr5:157178450G>A	uc003lxe.1	+	1	505	c.501G>A	c.(499-501)gtG>gtA	p.V167V		NM_173491	NP_775762	P83369	LSM11_HUMAN	Homo sapiens LSM11, U7 small nuclear RNA associated (LSM11), mRNA.	167					S phase of mitotic cell cycle|histone mRNA 3'-end processing|termination of RNA polymerase II transcription	U7 snRNP|histone pre-mRNA 3'end processing complex|nucleoplasm	U7 snRNA binding|protein binding			breast(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)	7	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GTGAGGGGGTGAAGGTGAATG	0.488000														78			25		0	0	0.003954	0	0
ZNF699	374879	broad.mit.edu	37	19	9407134	9407134	+	Missense_Mutation	SNP	A	C	C			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr19:9407134A>C	uc002mlc.1	-	4	946	c.946T>G	c.(946-948)Ttc>Gtc	p.F316V		NM_198535	NP_940937	Q32M78	ZN699_HUMAN	Homo sapiens zinc finger protein 699 (ZNF699), mRNA.	316					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GAACAACTGAAGGCCTTCCCA	0.423000														61			8		0	0	0.003080	0	0
BCAR3	8412	broad.mit.edu	37	1	94054934	94054934	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr1:94054934G>A	uc001dpz.3	-	4	804	c.529C>T	c.(529-531)Cgt>Tgt	p.R177C	BCAR3_uc001dqa.3_Missense_Mutation_p.R177C|BCAR3_uc001dqb.3_Missense_Mutation_p.R177C|BCAR3_uc001dpy.3_Missense_Mutation_p.R86C|LOC100129046_uc009wdn.3_5'Flank	NM_003567	NP_003558	O75815	BCAR3_HUMAN	Homo sapiens breast cancer anti-estrogen resistance 3 (BCAR3), mRNA.	177	SH2.				response to drug|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	25		all_lung(203;0.00145)|Lung NSC(277;0.00662)		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)		AGAGAGTCACGAACTAGGAAG	0.488000														17			13		0	0	0.006122	0	0
CNNM2	54805	broad.mit.edu	37	10	104679596	104679596	+	Silent	SNP	C	G	G			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr10:104679596C>G	uc001kwm.3	+	0	1522	c.1359C>G	c.(1357-1359)ctC>ctG	p.L453L	CNNM2_uc001kwn.3_Silent_p.L453L|CNNM2_uc001kwl.3_Silent_p.L453L	NM_017649	NP_060119	Q9H8M5	CNNM2_HUMAN	Homo sapiens cyclin M2 (CNNM2), transcript variant 1, mRNA.	453	CBS 1.				ion transport	integral to membrane				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		TGACCCCACTCCGGGACTGCT	0.577000														16			17		0	0	0.006122	0	0
ALMS1	7840	broad.mit.edu	37	2	73762047	73762047	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr2:73762047C>T	uc002sje.1	+	11	9986	c.9875C>T	c.(9874-9876)tCa>tTa	p.S3292L	ALMS1_uc002sjf.1_Missense_Mutation_p.S3250L|ALMS1_uc002sjg.3_Missense_Mutation_p.S2680L|ALMS1_uc002sjh.1_Missense_Mutation_p.S2680L|ALMS1_uc010fev.1_Missense_Mutation_p.S109L	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Homo sapiens Alstrom syndrome 1 (ALMS1), mRNA.	3292					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						GATTCCAAATCAGATACCACC	0.358000														156			46		0	0	0.003610	0	0
EBF1	1879	broad.mit.edu	37	5	158141145	158141145	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr5:158141145C>T	uc010jip.3	-	11	1473	c.1171G>A	c.(1171-1173)Ggg>Agg	p.G391R	EBF1_uc011ddw.2_Missense_Mutation_p.G259R|EBF1_uc011ddx.2_Missense_Mutation_p.G392R|EBF1_uc003lxl.4_Missense_Mutation_p.G360R	NM_024007	NP_076870	Q9UH73	COE1_HUMAN	Homo sapiens early B-cell factor 1 (EBF1), mRNA.	391					multicellular organismal development	nucleus	DNA binding|metal ion binding		HMGA2/EBF1(2)	breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGTGGCATCCCATACAGTGCT	0.468000			T	HMGA2	lipoma									170			45		0	0	0.003610	0	0
TIMD4	91937	broad.mit.edu	37	5	156381674	156381674	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr5:156381674C>T	uc003lwh.2	-	1	209	c.152G>A	c.(151-153)aGc>aAc	p.S51N	TIMD4_uc010jii.2_Missense_Mutation_p.S51N	NM_138379	NP_612388	Q96H15	TIMD4_HUMAN	Homo sapiens T-cell immunoglobulin and mucin domain containing 4 (TIMD4), transcript variant 1, mRNA.	51	Ig-like V-type.					integral to membrane				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CCAGCACATGCTGTTGCTGTT	0.537000														338			114		0	0	0.003610	0	0
FAM135B	51059	broad.mit.edu	37	8	139144977	139144977	+	Silent	SNP	A	C	C			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr8:139144977A>C	uc003yuy.3	-	19	4251	c.4080T>G	c.(4078-4080)acT>acG	p.T1360T	FAM135B_uc003yux.3_Silent_p.T1261T|FAM135B_uc003yuz.3_Non-coding_Transcript	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA.	1360										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			GTCGGATTAAAGTGCAGTCCT	0.547000										HNSCC(54;0.14)				394			22		0	0	0.002780	0	0
TESK1	7016	broad.mit.edu	37	9	35607612	35607613	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr9:35607612_35607613GG>AA	uc003zxa.3	+	5	990_991	c.654_655GG>AA	c.(652-657)gtgggc>gtAAgc	p.G219S	TESK1_uc010mks.3_Missense_Mutation_p.G59S|MIR4667_uc022bgk.1_5'Flank	NM_006285	NP_006276	Q15569	TESK1_HUMAN	Homo sapiens testis-specific kinase 1 (TESK1), mRNA.	219	Protein kinase.				cell junction assembly|spermatogenesis	cytosol	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	27			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TGGCCGTGGTGGGCTCCCCATA	0.599000														43			20		0	0	0.004672	0	0
FDX1L	112812	broad.mit.edu	37	19	10421604	10421604	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr19:10421604G>A	uc002mny.1	-	3	339	c.320C>T	c.(319-321)gCc>gTc	p.A107V	ZGLP1_uc002mnw.4_5'Flank|FDX1L_uc002mnx.1_Non-coding_Transcript	NM_001031734	NP_001026904	Q6P4F2	ADXL_HUMAN	Homo sapiens ferredoxin 1-like (FDX1L), nuclear gene encoding mitochondrial protein, mRNA.	107	2Fe-2S ferredoxin-type.				electron transport chain|transport	mitochondrial matrix	2 iron, 2 sulfur cluster binding|electron carrier activity|metal ion binding			NS(2)|endometrium(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	10			OV - Ovarian serous cystadenocarcinoma(20;9.5e-10)|Epithelial(33;2.11e-06)|all cancers(31;5.06e-06)			GGCCAGGGAGGCTTCACAGGC	0.612000														12			6		0	0	0.004482	0	0
POM121	9883	broad.mit.edu	37	7	72413673	72413673	+	Silent	SNP	C	T	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr7:72413673C>T	uc003twk.2	+	10	3141	c.3141C>T	c.(3139-3141)ttC>ttT	p.F1047F	POM121_uc003twj.3_Silent_p.F782F|POM121_uc010lam.1_Silent_p.F782F	NM_172020	NP_742017	Q96HA1	P121A_HUMAN	Homo sapiens POM121 membrane glycoprotein (POM121), mRNA.	1047	Pore side (Potential).				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				CTTCGGCCTTCGGCGCTCCCG	0.647000														48			19		0	0	0.001523	0	0
KIF4B	285643	broad.mit.edu	37	5	154396448	154396448	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr5:154396448C>T	uc010jih.1	+	0	3189	c.3029C>T	c.(3028-3030)aCc>aTc	p.T1010I		NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	Homo sapiens kinesin family member 4B (KIF4B), mRNA.	1010	Globular (By similarity).|Interaction with PRC1 (By similarity).				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CCTAATGATACCCTTCTATCT	0.423000														116			37		0	0	0.005524	0	0
SCN5A	6331	broad.mit.edu	37	3	38674603	38674603	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr3:38674603C>T	uc021wvo.1	-	0	248	c.196G>A	c.(196-198)Gat>Aat	p.D66N	SCN5A_uc021wvk.1_Missense_Mutation_p.D66N|SCN5A_uc021wvl.1_Missense_Mutation_p.D66N|SCN5A_uc021wvm.1_Missense_Mutation_p.D66N|SCN5A_uc021wvn.1_Missense_Mutation_p.D66N|SCN5A_uc021wvp.1_Missense_Mutation_p.D66N|SCN5A_uc021wvq.1_Missense_Mutation_p.D66N|SCN5A_uc021wvr.1_Missense_Mutation_p.D66N|SCN5A_uc021wvs.1_Missense_Mutation_p.D66N|SCN5A_uc021wvt.1_Missense_Mutation_p.D66N|SCN5A_uc021wvu.1_Missense_Mutation_p.D66N|SCN5A_uc021wvv.1_Missense_Mutation_p.D66N|SCN5A_uc021wvx.1_Silent_p.Q68Q	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	66					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	CCATAGAGATCTGGCAGCTTT	0.642000														16			7		0	0	0.001984	0	0
GFRAL	389400	broad.mit.edu	37	6	55223928	55223928	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr6:55223928C>T	uc003pcm.1	+	5	1030	c.944C>T	c.(943-945)tCa>tTa	p.S315L		NM_207410	NP_997293	Q6UXV0	GFRAL_HUMAN	Homo sapiens GDNF family receptor alpha like (GFRAL), mRNA.	315						integral to membrane	receptor activity	p.S315L(2)		NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			CATAGAAAATCATGTTTCAGT	0.343000														28			15		0	0	0.003163	0	0
PLCH1	23007	broad.mit.edu	37	3	155200465	155200465	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr3:155200465C>T	uc021xge.1	-	22	3651	c.3374G>A	c.(3373-3375)gGa>gAa	p.G1125E	PLCH1_uc021xgd.1_3'UTR|PLCH1_uc021xgf.1_Missense_Mutation_p.G1087E	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	Homo sapiens phospholipase C, eta 1 (PLCH1), transcript variant 1, mRNA.	1125					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)			AAGGACGCTTCCTGACAAGAT	0.463000														59			13		0	0	0.001855	0	0
KCND2	3751	broad.mit.edu	37	7	120387884	120387884	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr7:120387884G>A	uc003vjj.1	+	5	2830	c.1865G>A	c.(1864-1866)gGa>gAa	p.G622E		NM_012281	NP_036413	Q9NZV8	KCND2_HUMAN	Homo sapiens potassium voltage-gated channel, Shal-related subfamily, member 2 (KCND2), mRNA.	622					regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)					TACTCAGGAGGAAATATTGTC	0.423000														28			5		0	0	0.001168	0	0
ATP1A3	478	broad.mit.edu	37	19	42482827	42482827	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr19:42482827C>T	uc002osh.3	-	11	1715	c.1561G>A	c.(1561-1563)Gac>Aac	p.D521N	ATP1A3_uc010xwf.2_Missense_Mutation_p.D532N|ATP1A3_uc010xwg.2_Missense_Mutation_p.D491N|ATP1A3_uc002osg.3_Missense_Mutation_p.D521N|ATP1A3_uc010xwh.2_Missense_Mutation_p.D534N			P13637	AT1A3_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 3 polypeptide (ATP1A3), transcript variant 1, mRNA.	521					ATP biosynthetic process	Golgi apparatus|endoplasmic reticulum	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						ATTTCCTCGTCCAGAGGCTGC	0.657000														54			12		0	0	0.001368	0	0
DNAH3	55567	broad.mit.edu	37	16	20986677	20986677	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr16:20986677C>T	uc010vbe.2	-	50	8137	c.8137G>A	c.(8137-8139)Gaa>Aaa	p.E2713K	DNAH3_uc010vbd.2_Missense_Mutation_p.E148K	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	2713	Stalk (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)		TTGGCAGTTTCCTCGGAGGTG	0.488000														144			82		0	0	0.003610	0	0
OTOP2	92736	broad.mit.edu	37	17	72926688	72926688	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr17:72926688C>T	uc010wrp.2	+	5	1050	c.958C>T	c.(958-960)Cgc>Tgc	p.R320C		NM_178160	NP_835454	Q7RTS6	OTOP2_HUMAN	Homo sapiens otopetrin 2 (OTOP2), mRNA.	320						integral to membrane				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|prostate(4)|skin(1)|urinary_tract(2)	39	all_lung(278;0.172)|Lung NSC(278;0.207)					GGACGGGAGCCGCACCAGGCA	0.582000														30			5		0	0	0.001168	0	0
TARSL2	123283	broad.mit.edu	37	15	102197160	102197160	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr15:102197160C>T	uc002bxm.3	-	17	2280	c.2225G>A	c.(2224-2226)cGa>cAa	p.R742Q	TARSL2_uc002bxl.3_3'UTR|TARSL2_uc010usi.2_Non-coding_Transcript	NM_152334	NP_689547	A2RTX5	SYTC2_HUMAN	Homo sapiens threonyl-tRNA synthetase-like 2 (TARSL2), mRNA.	742					threonyl-tRNA aminoacylation	cytoplasm	ATP binding|threonine-tRNA ligase activity	p.R742*(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|skin(1)|urinary_tract(1)	29	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CTGTGCATTTCGTATTTTCTT	0.318000														32			5		0	0	0.000602	0	0
RNF213	57674	broad.mit.edu	37	17	78321975	78321975	+	Silent	SNP	G	A	A	rs144070062	byFrequency	TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr17:78321975G>A	uc002jyh.2	+	29	10130	c.9987G>A	c.(9985-9987)gcG>gcA	p.A3329A	RNF213_uc021uen.1_Silent_p.A3280A	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	SubName: Full=Uncharacterized protein;	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GGTTCGCAGCGGAGTGGCTGT	0.617000														33			25		0	0	0.004656	0	0
MAP3K10	4294	broad.mit.edu	37	19	40721043	40721043	+	Silent	SNP	C	T	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr19:40721043C>T	uc002ona.3	+	9	2997	c.2709C>T	c.(2707-2709)tcC>tcT	p.S903S		NM_002446	NP_002437	Q02779	M3K10_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 10 (MAP3K10), mRNA.	903					activation of JUN kinase activity|induction of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of JNK cascade|protein autophosphorylation|smoothened signaling pathway	cytoplasm	ATP binding|JUN kinase kinase kinase activity|bHLH transcription factor binding|protein homodimerization activity|transcription corepressor activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						AACTGGTCTCCTTCGGCCGGA	0.701000														7			6		0	0	0.001984	0	0
DLG2	1740	broad.mit.edu	37	11	84245701	84245701	+	Missense_Mutation	SNP	G	A	A	rs145869624		TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr11:84245701G>A	uc001paj.2	-	1	419	c.116C>T	c.(115-117)cCa>cTa	p.P39L	DLG2_uc010rsz.1_Missense_Mutation_p.P39L|DLG2_uc010rta.1_Missense_Mutation_p.P39L|DLG2_uc001pak.2_Missense_Mutation_p.P144L|DLG2_uc001pal.1_Missense_Mutation_p.P39L	NM_001364	NP_001355	Q15700	DLG2_HUMAN	Homo sapiens discs, large homolog 2 (Drosophila) (DLG2), transcript variant 2, mRNA.	39						cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				CACGAGTTCTGGGCCTCTTAC	0.408000														58			30		0	0	0.001786	0	0
FBXO42	54455	broad.mit.edu	37	1	16577664	16577664	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr1:16577664G>A	uc001ayg.3	-	9	1871	c.1655C>T	c.(1654-1656)tCc>tTc	p.S552F	FBXO42_uc001ayf.3_Missense_Mutation_p.S459F	NM_018994	NP_061867	Q6P3S6	FBX42_HUMAN	Homo sapiens F-box protein 42 (FBXO42), mRNA.	552										autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	26		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693)		GGCACCTGGGGAGACGGCCCC	0.592000														48			11		0	0	0.000978	0	0
ARHGAP33	115703	broad.mit.edu	37	19	36273350	36273350	+	Silent	SNP	C	T	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr19:36273350C>T	uc002obs.2	+	12	1305	c.1161C>T	c.(1159-1161)tcC>tcT	p.S387S	ARHGAP33_uc002obr.2_Silent_p.S387S|ARHGAP33_uc002obt.2_Silent_p.S251S|ARHGAP33_uc002obv.1_5'Flank	NM_052948	NP_443180	O14559	RHG33_HUMAN	Homo sapiens Rho GTPase activating protein 33 (ARHGAP33), transcript variant 1, mRNA.	387	Rho-GAP.				cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding			endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						GCGTGTCCTCCCTCTGCAAGC	0.597000														52			9		0	0	0.004482	0	0
KDM3B	51780	broad.mit.edu	37	5	137727397	137727397	+	Silent	SNP	C	T	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr5:137727397C>T	uc003lcy.1	+	7	2276	c.2076C>T	c.(2074-2076)ctC>ctT	p.L692L	KDM3B_uc010jew.1_Silent_p.L348L|KDM3B_uc011cys.1_Intron	NM_016604	NP_057688	Q7LBC6	KDM3B_HUMAN	Homo sapiens lysine (K)-specific demethylase 3B (KDM3B), mRNA.	692	Ser-rich.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						AGAAACCCCTCTTCATTACAA	0.562000														53			21		0	0	0.001523	0	0
CTNNB1	1499	broad.mit.edu	37	3	41278183	41278184	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr3:41278183_41278184CC>TT	uc010hia.1	+	13	2215_2216	c.2059_2060CC>TT	c.(2059-2061)cca>TTa	p.P687L	CTNNB1_uc003ckq.2_Missense_Mutation_p.P687L|CTNNB1_uc003ckp.2_Missense_Mutation_p.P687L|CTNNB1_uc003ckr.2_Missense_Mutation_p.P687L|CTNNB1_uc011azf.1_Missense_Mutation_p.P680L|CTNNB1_uc011azg.1_Missense_Mutation_p.P615L|CTNNB1_uc003cks.3_3'UTR|CTNNB1_uc003ckt.1_3'UTR	NM_001904	NP_001895	P35222	CTNB1_HUMAN	Homo sapiens catenin (cadherin-associated protein), beta 1, 88kDa (CTNNB1), transcript variant 1, mRNA.	687					Schwann cell proliferation|T cell differentiation in thymus|adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of T cell proliferation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|Z disc|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|zonula adherens	I-SMAD binding|R-SMAD binding|RPTP-like protein binding|alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|ion channel binding|protein C-terminus binding|protein binding|protein kinase binding|protein phosphatase binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding		CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	Lithium(DB01356)	CAGAACAGAGCCAATGGCTTGG	0.441000		15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of					80			31		0	0	0.004672	0	0
ODZ1	10178	broad.mit.edu	37	X	123870902	123870902	+	Silent	SNP	G	T	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chrX:123870902G>T	uc010nqy.3	-	3	745	c.681C>A	c.(679-681)ccC>ccA	p.P227P	ODZ1_uc011muj.2_Silent_p.P227P|ODZ1_uc004euj.3_Silent_p.P227P	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA.	227	Teneurin N-terminal.				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			NS(4)|breast(7)|cervix(3)|endometrium(23)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(36)|liver(1)|lung(93)|ovary(13)|pancreas(3)|prostate(2)|skin(10)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	212						CAGCTGGGCTGGGCTGGCTGC	0.607000														129			23		1.03073e-24	2.20246e-24	0.003954	1	0
NOL4	8715	broad.mit.edu	37	18	31463336	31463336	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr18:31463336G>A	uc010dmi.3	-	9	1893	c.1595C>T	c.(1594-1596)aCt>aTt	p.T532I	NOL4_uc010xbs.2_Missense_Mutation_p.T247I|NOL4_uc002kxr.4_Missense_Mutation_p.T304I|NOL4_uc010xbt.2_Missense_Mutation_p.T458I|NOL4_uc010dmh.3_Missense_Mutation_p.T394I|NOL4_uc010xbu.2_Missense_Mutation_p.T468I|NOL4_uc002kxt.4_Missense_Mutation_p.T430I	NM_003787	NP_001185478	O94818	NOL4_HUMAN	Homo sapiens nucleolar protein 4 (NOL4), transcript variant 1, mRNA.	532						nucleolus	RNA binding			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						TGTTGAGTAAGTGGCCTGGGT	0.493000														65			18		0	0	0.004990	0	0
OR6C76	390326	broad.mit.edu	37	12	55820040	55820040	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr12:55820040G>A	uc010spm.2	+	0	3	c.3G>A	c.(1-3)atG>atA	p.M1I		NM_001005183	NP_001005183	A6NM76	O6C76_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 76 (OR6C76), mRNA.	1					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M1I(2)		NS(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						CATCAGAAATGAAAAATAGAA	0.348000														52			14		0	0	0.001855	0	0
MATR3	9782	broad.mit.edu	37	5	138655053	138655053	+	Missense_Mutation	SNP	G	C	C			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr5:138655053G>C	uc003ldw.3	+	9	1868	c.1465G>C	c.(1465-1467)Gat>Cat	p.D489H	MATR3_uc003ldt.3_Missense_Mutation_p.D151H|MATR3_uc003ldu.3_Missense_Mutation_p.D489H|MATR3_uc010jfb.3_Missense_Mutation_p.D489H|MATR3_uc003ldx.3_Missense_Mutation_p.D489H|MATR3_uc003ldy.3_Missense_Mutation_p.D166H|MATR3_uc003ldz.3_Missense_Mutation_p.D489H|MATR3_uc011czb.2_Missense_Mutation_p.D201H|MATR3_uc003leb.3_Missense_Mutation_p.D151H|MATR3_uc003lec.3_Missense_Mutation_p.D166H	NM_018834	NP_954659	P43243	MATR3_HUMAN	Homo sapiens matrin 3 (MATR3), transcript variant 2, mRNA.	489						nuclear inner membrane|nuclear matrix	RNA binding|nucleotide binding|protein binding|structural molecule activity|zinc ion binding			breast(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TCAGAAGTTTGATCAAAAGCA	0.373000														82			14		0	0	0.004007	0	0
PCDH1	5097	broad.mit.edu	37	5	141248676	141248676	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr5:141248676G>A	uc003llp.3	-	1	478	c.361C>T	c.(361-363)Cgt>Tgt	p.R121C	PCDH1_uc011dbf.2_Missense_Mutation_p.R99C|PCDH1_uc003llq.3_Missense_Mutation_p.R121C	NM_032420	NP_115796	Q08174	PCDH1_HUMAN	Homo sapiens protocadherin 1 (PCDH1), transcript variant 2, mRNA.	121	Cadherin 1.				cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		TGGCATTCACGGAGCCCCTCA	0.592000														32			19		0	0	0.001882	0	0
IDI1	3422	broad.mit.edu	37	10	1087205	1087205	+	Silent	SNP	C	T	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr10:1087205C>T	uc001iga.3	-	4	895	c.777G>A	c.(775-777)gcG>gcA	p.A259A	IDI2-AS1_uc010qaf.1_Intron|IDI2-AS1_uc001ifx.3_Intron|IDI2-AS1_uc001ifw.3_Intron|IDI2-AS1_uc001ify.3_Intron|IDI1_uc001ifz.3_Silent_p.A203A|IDI1_uc001igb.3_Non-coding_Transcript|IDI1_uc001igc.3_Silent_p.A203A	NM_004508	NP_004499	Q13907	IDI1_HUMAN	Homo sapiens isopentenyl-diphosphate delta isomerase 1 (IDI1), mRNA.	202					carotenoid biosynthetic process|cholesterol biosynthetic process	cytosol|peroxisome	hydrolase activity|isopentenyl-diphosphate delta-isomerase activity|metal ion binding			large_intestine(3)|lung(2)|prostate(1)	6		all_epithelial(10;0.107)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.221)	Epithelial(11;0.0972)		AGAGAAAAGTCGCTGCAATAA	0.318000														28			25		0	0	0.002780	0	0
TTN	7273	broad.mit.edu	37	2	179585274	179585274	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr2:179585274G>A	uc021vsy.1	-	76	19708	c.19483C>T	c.(19483-19485)Cga>Tga	p.R6495*	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Nonsense_Mutation_p.R3156*	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	7422	Ig-like 46.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R6495*(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACCTGCTTTCGATCTTTAACC	0.393000														29			9		0	0	0.000673	0	0
ATRN	8455	broad.mit.edu	37	20	3543973	3543973	+	Silent	SNP	C	T	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr20:3543973C>T	uc002wim.2	+	9	1839	c.1749C>T	c.(1747-1749)gcC>gcT	p.A583A	ATRN_uc002wil.2_Silent_p.A583A|ATRN_uc021vzz.1_Silent_p.A467A	NM_139321	NP_647537	O75882	ATRN_HUMAN	Homo sapiens attractin (ATRN), transcript variant 1, mRNA.	583					inflammatory response	extracellular space|integral to plasma membrane	receptor activity|sugar binding	p.A583T(2)		breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	59						GCCATGGCGCCAAATGCTTCT	0.428000														100			36		0	0	0.005524	0	0
ADAM18	8749	broad.mit.edu	37	8	39468072	39468072	+	Silent	SNP	C	T	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr8:39468072C>T	uc003xni.3	+	5	424	c.369C>T	c.(367-369)atC>atT	p.I123I	ADAM18_uc003xnh.3_Silent_p.I123I|ADAM18_uc010lww.3_Intron|ADAM18_uc010lwx.3_Silent_p.I123I	NM_014237	NP_055052	Q9Y3Q7	ADA18_HUMAN	Homo sapiens ADAM metallopeptidase domain 18 (ADAM18), transcript variant 1, mRNA.	123					cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			TTGAAAATATCAGTTATGGAA	0.279000														28			18		0	0	0.006122	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	T	T	rs121913377		TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome					61			28		0	0	0.001061	0	0
PBXIP1	57326	broad.mit.edu	37	1	154923959	154923959	+	Missense_Mutation	SNP	C	A	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr1:154923959C>A	uc001ffr.3	-	3	290	c.231G>T	c.(229-231)gaG>gaT	p.E77D	PBXIP1_uc001ffs.3_Missense_Mutation_p.E48D|PBXIP1_uc010pep.2_Intron|PBXIP1_uc009woy.1_Non-coding_Transcript	NM_020524	NP_065385	Q96AQ6	PBIP1_HUMAN	Homo sapiens pre-B-cell leukemia homeobox interacting protein 1 (PBXIP1), mRNA.	77					cell differentiation|multicellular organismal development|negative regulation of transcription, DNA-dependent	cytosol|microtubule|nucleus	protein binding|transcription corepressor activity			breast(1)|kidney(2)|large_intestine(6)|lung(13)|prostate(1)|urinary_tract(1)	24	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			TGACCTCAGTCTCCTCTGTTA	0.567000														65			27		2.48696e-23	5.30161e-23	0.003271	1	0
STMN2	11075	broad.mit.edu	37	8	80567129	80567129	+	Missense_Mutation	SNP	A	T	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr8:80567129A>T	uc022awk.1	+	3	694	c.312A>T	c.(310-312)aaA>aaT	p.K104N	STMN2_uc003ybj.3_Missense_Mutation_p.K104N|STMN2_uc010lzp.3_Non-coding_Transcript	NM_001199214	NP_001186143	Q93045	STMN2_HUMAN	Homo sapiens stathmin-like 2 (STMN2), transcript variant 1, mRNA.	104					intracellular signal transduction|negative regulation of microtubule depolymerization|negative regulation of microtubule polymerization|negative regulation of neuron projection development|neuron differentiation|positive regulation of microtubule depolymerization|positive regulation of neuron projection development	axon|growth cone|membrane|membrane fraction|perinuclear region of cytoplasm|soluble fraction	protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	11	all_lung(9;8.34e-05)		Epithelial(68;0.0229)|all cancers(69;0.0874)			AGGTGCTGAAACAATTGGCAG	0.483000														20			9		0	0	0.000443	0	0
ABCA5	23461	broad.mit.edu	37	17	67246096	67246096	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr17:67246096G>A	uc002jif.2	-	35	5933	c.4715C>T	c.(4714-4716)cCt>cTt	p.P1572L	ABCA5_uc002jib.2_Missense_Mutation_p.P538L|ABCA5_uc002jic.2_Missense_Mutation_p.P795L|ABCA5_uc002jid.2_Missense_Mutation_p.P489L|ABCA5_uc002jie.2_Non-coding_Transcript|ABCA5_uc002jig.2_Missense_Mutation_p.P1572L	NM_018672	NP_758424	Q8WWZ7	ABCA5_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 5 (ABCA5), transcript variant 1, mRNA.	1572					cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)					ATCTTCCTTAGGAATTTTATA	0.274000														41			7		0	0	0.004482	0	0
GRIA1	2890	broad.mit.edu	37	5	153030000	153030000	+	Missense_Mutation	SNP	G	A	A	rs138865459		TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr5:153030000G>A	uc011dcy.2	+	3	628	c.601G>A	c.(601-603)Gac>Aac	p.D201N	GRIA1_uc003lva.4_Missense_Mutation_p.D191N|GRIA1_uc003luy.4_Missense_Mutation_p.D191N|GRIA1_uc003luz.4_Missense_Mutation_p.D96N|GRIA1_uc011dcv.2_Non-coding_Transcript|GRIA1_uc011dcw.2_Missense_Mutation_p.D111N|GRIA1_uc011dcx.2_Missense_Mutation_p.D122N|GRIA1_uc011dcz.2_Missense_Mutation_p.D201N|GRIA1_uc010jia.1_Missense_Mutation_p.D171N	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	Homo sapiens glutamate receptor, ionotropic, AMPA 1 (GRIA1), transcript variant 2, mRNA.	191					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	PDZ domain binding|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	GCTCTTTCAGGACCTGGAGAA	0.532000														70			24		0	0	0.003954	0	0
TPTE	7179	broad.mit.edu	37	21	10906987	10906987	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr21:10906987C>T	uc002yip.1	-	23	1942	c.1574G>A	c.(1573-1575)aGa>aAa	p.R525K	TPTE_uc002yis.1_Non-coding_Transcript|TPTE_uc002yiq.1_Missense_Mutation_p.R507K|TPTE_uc002yir.1_Missense_Mutation_p.R487K|TPTE_uc010gkv.1_Missense_Mutation_p.R387K	NM_199261	NP_954870	P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA.	525	C2 tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.T524I(1)|p.T524S(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TGGATAAATTCTCCGTGCTTT	0.358000														63			11		0	0	0.000978	0	0
TRIM40	135644	broad.mit.edu	37	6	30115575	30115575	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr6:30115575C>T	uc003npk.2	+	5	1149	c.763C>T	c.(763-765)Cct>Tct	p.P255S	TRIM40_uc003npm.2_Missense_Mutation_p.P226S	NM_138700	NP_619645	Q6P9F5	TRI40_HUMAN	Homo sapiens tripartite motif containing 40 (TRIM40), mRNA.	255						intracellular	zinc ion binding			ovary(1)	1						TCTTCAGCCCCCTCAGAAGCT	0.502000														57			25		0	0	0.003330	0	0
F13A1	2162	broad.mit.edu	37	6	6146001	6146001	+	Missense_Mutation	SNP	T	A	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr6:6146001T>A	uc003mwv.3	-	14	2173	c.2050A>T	c.(2050-2052)Atc>Ttc	p.I684F	F13A1_uc011dib.2_Intron	NM_000129	NP_000120	P00488	F13A_HUMAN	Homo sapiens coagulation factor XIII, A1 polypeptide (F13A1), mRNA.	684					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	TTGGGCCGGATTTCACTGAAA	0.517000														39			17		0	0	0.001216	0	0
DLG5	9231	broad.mit.edu	37	10	79565430	79565430	+	Silent	SNP	G	A	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr10:79565430G>A	uc001jzk.3	-	26	5227	c.5157C>T	c.(5155-5157)ctC>ctT	p.L1719L	DLG5_uc001jzi.3_Silent_p.L474L|DLG5_uc001jzj.3_Silent_p.L1134L|DLG5_uc009xru.1_Non-coding_Transcript	NM_004747	NP_004738	Q8TDM6	DLG5_HUMAN	Homo sapiens discs, large homolog 5 (Drosophila) (DLG5), mRNA.	1719					cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			TGCCTTCAAAGAGTGGAATGG	0.527000														35			29		0	0	0.002836	0	0
ODZ1	10178	broad.mit.edu	37	X	123699397	123699397	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chrX:123699397C>T	uc010nqy.3	-	11	2155	c.2091G>A	c.(2089-2091)atG>atA	p.M697I	ODZ1_uc011muj.2_Missense_Mutation_p.M696I|ODZ1_uc004euj.3_Missense_Mutation_p.M697I	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA.	697	EGF-like 6.				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			NS(4)|breast(7)|cervix(3)|endometrium(23)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(36)|liver(1)|lung(93)|ovary(13)|pancreas(3)|prostate(2)|skin(10)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	212						TACCACACTCCATGGTACACA	0.408000														42			8		0	0	0.003080	0	0
APCDD1L	164284	broad.mit.edu	37	20	57036200	57036201	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr20:57036200_57036201GG>AA	uc010zzp.1	-	4	1508_1509	c.1184_1185CC>TT	c.(1183-1185)gcc>gTT	p.A395V	APCDD1L_uc002xze.1_Missense_Mutation_p.A384V	NM_153360	NP_699191	Q8NCL9	APCDL_HUMAN	Homo sapiens adenomatosis polyposis coli down-regulated 1-like (APCDD1L), mRNA.	384						integral to membrane		p.A384A(1)		large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(1)	18	Lung NSC(12;0.000856)|all_lung(29;0.0025)		BRCA - Breast invasive adenocarcinoma(13;5.6e-11)|Epithelial(14;1.67e-07)|all cancers(14;1.48e-06)			CCATGGACCAGGCCCCCGCACC	0.629000														49			15		0	0	0.004672	0	0
GALR1	2587	broad.mit.edu	37	18	74963127	74963127	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr18:74963127G>A	uc002lms.4	+	0	1120	c.623G>A	c.(622-624)gGc>gAc	p.G208D		NM_001480	NP_001471	P47211	GALR1_HUMAN	Homo sapiens galanin receptor 1 (GALR1), mRNA.	208					digestion|negative regulation of adenylate cyclase activity	integral to membrane|plasma membrane	galanin receptor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)		OV - Ovarian serous cystadenocarcinoma(15;1.03e-06)|BRCA - Breast invasive adenocarcinoma(31;0.104)		TTCGTCTTCGGCTACCTGCTG	0.697000														89			25		0	0	0.001271	0	0
abParts	0	broad.mit.edu	37	15	22473164	22473164	+	RNA	SNP	G	A	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr15:22473164G>A	uc001yuj.2	-	6		c.164C>T								Parts of antibodies, mostly variable regions.																		GAGGGACAGGGTCTCCGAAGG	0.637000														75			10		0	0	0.000978	0	0
ADAM7	8756	broad.mit.edu	37	8	24359024	24359024	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr8:24359024G>A	uc003xeb.3	+	19	2256	c.2143G>A	c.(2143-2145)Gga>Aga	p.G715R	ADAM7_uc003xec.3_Missense_Mutation_p.G487R	NM_003817	NP_003808	Q9H2U9	ADAM7_HUMAN	Homo sapiens ADAM metallopeptidase domain 7 (ADAM7), mRNA.	715					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	p.G715*(4)		NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		GGAGAACAAAGGATACTTTGG	0.373000														71			21		0	0	0.001271	0	0
ADRA2B	151	broad.mit.edu	37	2	96781056	96781056	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr2:96781056G>A	uc021vlh.1	-	0	833	c.833C>T	c.(832-834)cCc>cTc	p.P278L		NM_000682	NP_000673	P18089	ADA2B_HUMAN	Homo sapiens adrenergic, alpha-2B-, receptor (ADRA2B), mRNA.	278					activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation	integral to plasma membrane	alpha2-adrenergic receptor activity|epinephrine binding|protein binding			endometrium(2)|large_intestine(2)|lung(9)|ovary(3)	16					Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)	GCCTGAGTTGGGAAGGGCAGC	0.617000														8			6		0	0	0.001168	0	0
DNAH7	56171	broad.mit.edu	37	2	196682520	196682520	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr2:196682520C>T	uc002utj.4	-	49	9426	c.9325G>A	c.(9325-9327)Gga>Aga	p.G3109R		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	3109	AAA 5 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TCTTGCATTCCCTCAGGGGTT	0.338000														35			12		0	0	0.001855	0	0
NEK10	152110	broad.mit.edu	37	3	27215979	27215979	+	Silent	SNP	C	T	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr3:27215979C>T	uc010hfk.3	-	6	892	c.663G>A	c.(661-663)tcG>tcA	p.S221S	NEK10_uc003cds.1_Silent_p.S306S|NEK10_uc010hfj.3_Silent_p.S221S			Q6ZWH5	NEK10_HUMAN	Homo sapiens NIMA (never in mitosis gene a)- related kinase 10 (NEK10), mRNA.	909							ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						TGGAGTTATCCGAAATGTCCA	0.383000														51			27		0	0	0.001512	0	0
RSPH3	83861	broad.mit.edu	37	6	159403528	159403528	+	Silent	SNP	G	T	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr6:159403528G>T	uc003qrx.3	-	4	1301	c.1111C>A	c.(1111-1113)Cga>Aga	p.R371R	RSPH3_uc010kju.3_Silent_p.R275R	NM_031924	NP_114130	Q86UC2	RSPH3_HUMAN	Homo sapiens radial spoke 3 homolog (Chlamydomonas) (RSPH3), mRNA.	371										endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|skin(1)|stomach(7)	23		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;2.36e-16)|BRCA - Breast invasive adenocarcinoma(81;5.92e-06)		TTTTCTTCTCGGTGTCGCCTC	0.383000														41			5		0.000602214	0.00125716	0.000602	1	0
IL27	246778	broad.mit.edu	37	16	28511054	28511054	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr16:28511054G>A	uc002dqc.3	-	4	673	c.650C>T	c.(649-651)gCc>gTc	p.A217V	NPIPL1_uc010vct.2_Intron	NM_145659	NP_663634	Q8NEV9	IL27A_HUMAN	Homo sapiens interleukin 27 (IL27), mRNA.	217					inflammatory response|innate immune response|positive regulation of interferon-gamma biosynthetic process|regulation of T cell proliferation|regulation of T-helper 1 cell differentiation|regulation of defense response to virus	extracellular space	cytokine activity|interleukin-27 receptor binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	10						CTCCCGCACGGCCCGAGATAA	0.662000														20			4		0	0	0.000248	0	0
C12orf43	64897	broad.mit.edu	37	12	121442013	121442013	+	Silent	SNP	G	A	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr12:121442013G>A	uc009zxa.1	-	5	848	c.825C>T	c.(823-825)gcC>gcT	p.A275A	C12orf43_uc001tzh.1_Silent_p.A244A|C12orf43_uc010szo.1_Silent_p.A203A|C12orf43_uc010szp.1_Silent_p.A234A|C12orf43_uc001tzi.1_Silent_p.A245A	NM_022895	NP_075046	Q96C57	CL043_HUMAN	Homo sapiens chromosome 12 open reading frame 43 (C12orf43), mRNA.	244										cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					AGGTCTCGCTGGCCTTCTTTG	0.567000														571			179		0	0	0.003610	0	0
TUBGCP6	85378	broad.mit.edu	37	22	50665429	50665429	+	Splice_Site	SNP	G	A	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr22:50665429G>A	uc003bkb.1	-	6	2003	c.1491_splice	c.e6+1	p.T497_splice	TUBGCP6_uc010har.1_Splice_Site_p.T497_splice|TUBGCP6_uc010has.1_Splice_Site|TUBGCP6_uc010hat.1_5'Flank|TUBGCP6_uc003bkd.1_5'Flank	NM_020461	NP_065194	Q96RT7	GCP6_HUMAN	Homo sapiens tubulin, gamma complex associated protein 6 (TUBGCP6), mRNA.	497					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		ACAACTCACGGTGGGAAACGC	0.692000														8			4		0	0	0.000248	0	0
IL1RAPL1	11141	broad.mit.edu	37	X	29973353	29973353	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chrX:29973353G>A	uc004dby.2	+	10	2015	c.1507G>A	c.(1507-1509)Gga>Aga	p.G503R		NM_014271	NP_055086	Q9NZN1	IRPL1_HUMAN	Homo sapiens interleukin 1 receptor accessory protein-like 1 (IL1RAPL1), mRNA.	503	TIR.				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity			biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						GCTTGTGACTGGAGAAATTAA	0.453000														51			17		0	0	0.006122	0	0
GPR142	350383	broad.mit.edu	37	17	72366722	72366722	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr17:72366722G>A	uc021ucp.1	+	2	421	c.412G>A	c.(412-414)Gaa>Aaa	p.E138K	GPR142_uc010wqy.2_Missense_Mutation_p.E141K	NM_181790	NP_861455	Q7Z601	GP142_HUMAN	Homo sapiens G protein-coupled receptor 142 (GPR142), mRNA.	141						cell junction|cytoplasm|integral to membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4)	35						CCAGGAGTTTGAAAGCCACTG	0.637000														35			6		0	0	0.001984	0	0
FILIP1L	11259	broad.mit.edu	37	3	99567893	99567893	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr3:99567893C>T	uc003dtm.3	-	4	3090	c.2627G>A	c.(2626-2628)gGa>gAa	p.G876E	MIR548G_uc021xbq.1_Intron|C3orf26_uc003dtk.2_Intron|C3orf26_uc003dtl.3_Intron|FILIP1L_uc003dto.3_Missense_Mutation_p.G876E|FILIP1L_uc010hpf.3_Missense_Mutation_p.G452E|FILIP1L_uc010hpg.3_Missense_Mutation_p.G636E|FILIP1L_uc003dtn.3_Missense_Mutation_p.G636E|FILIP1L_uc021xbr.1_Missense_Mutation_p.G636E|FILIP1L_uc003dtp.1_Missense_Mutation_p.G636E	NM_182909	NP_878913	Q4L180	FIL1L_HUMAN	Homo sapiens filamin A interacting protein 1-like (FILIP1L), transcript variant 1, mRNA.	876						cytoplasm|membrane|myosin complex|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	35						TTGCATTTTTCCATTCTGAAG	0.463000														123			55		0	0	0.003610	0	0
PCYT2	5833	broad.mit.edu	37	17	79864637	79864637	+	Splice_Site	SNP	G	A	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr17:79864637G>A	uc002kcf.2	-	7	785	c.676_splice	c.e7+1	p.H226_splice	PCYT2_uc010wvb.2_Splice_Site_p.H194_splice|PCYT2_uc002kce.2_Splice_Site_p.H148_splice|PCYT2_uc002kch.2_Splice_Site_p.H244_splice|PCYT2_uc002kci.2_Splice_Site_p.H185_splice|PCYT2_uc010wvc.2_Splice_Site_p.H148_splice	NM_002861	NP_002852	Q99447	PCY2_HUMAN	Homo sapiens phosphate cytidylyltransferase 2, ethanolamine (PCYT2), transcript variant 2, mRNA.	226	Catalytic 2 (Potential).				phospholipid biosynthetic process		ethanolamine-phosphate cytidylyltransferase activity			breast(2)|endometrium(1)|lung(4)|ovary(1)	8	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			AGAGGATACGGAACAGGTCGA	0.612000														31			6		0	0	0.001984	0	0
CEP250	11190	broad.mit.edu	37	20	34090779	34090779	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr20:34090779C>T	uc021wco.1	+	29	5229	c.4582C>T	c.(4582-4584)Ctt>Ttt	p.L1528F	CEP250_uc010zve.2_Missense_Mutation_p.L896F	NM_007186	NP_009117	Q9BV73	CP250_HUMAN	Homo sapiens centrosomal protein 250kDa (CEP250), mRNA.	1528	Gln/Glu-rich.				G2/M transition of mitotic cell cycle|centriole-centriole cohesion|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			GGAGCATCAGCTTCTAGAACT	0.532000														33			19		0	0	0.006122	0	0
FAM187B	148109	broad.mit.edu	37	19	35715879	35715879	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr19:35715879C>T	uc002nyk.1	-	1	1004	c.959G>A	c.(958-960)aGg>aAg	p.R320K		NM_152481	NP_689694	Q17R55	F187B_HUMAN	Homo sapiens family with sequence similarity 187, member B (FAM187B), mRNA.	320						integral to membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	9						CAGGGCCTTCCTTGCCTCCCG	0.677000														34			6		0	0	0.001984	0	0
THAP6	152815	broad.mit.edu	37	4	76452300	76452300	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr4:76452300C>T	uc003him.3	+	4	642	c.545C>T	c.(544-546)tCa>tTa	p.S182L	THAP6_uc003hin.3_Missense_Mutation_p.S140L|THAP6_uc011cbm.2_Intron|THAP6_uc010iiu.1_Intron|THAP6_uc003hio.1_Intron|THAP6_uc010iiv.3_Missense_Mutation_p.S182L	NM_144721	NP_653322	Q8TBB0	THAP6_HUMAN	Homo sapiens THAP domain containing 6 (THAP6), mRNA.	182						microtubule cytoskeleton	DNA binding|metal ion binding			lung(5)	5			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			TTTCAGAAATCATTGAGGAAG	0.398000														28			7		0	0	0.004482	0	0
TTC37	9652	broad.mit.edu	37	5	94861361	94861361	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr5:94861361T>C	uc003klb.3	-	13	1448	c.1151A>G	c.(1150-1152)aAt>aGt	p.N384S	TTC37_uc010jbf.2_Missense_Mutation_p.N336S	NM_014639	NP_055454	Q6PGP7	TTC37_HUMAN	Homo sapiens tetratricopeptide repeat domain 37 (TTC37), mRNA.	384							binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						TCCTGGGATATTATCTGCATC	0.358000														195			67		0	0	0.003610	0	0
PPP3R1	5534	broad.mit.edu	37	2	68413777	68413777	+	Silent	SNP	G	A	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr2:68413777G>A	uc002sei.1	-	4	680	c.288C>T	c.(286-288)ttC>ttT	p.F96F		NM_000945	NP_000936	P63098	CANB1_HUMAN	Homo sapiens protein phosphatase 3, regulatory subunit B, alpha (PPP3R1), mRNA.	96	EF-hand 3.				activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals	calcineurin complex|cytosol	calcium ion binding|calcium-dependent protein serine/threonine phosphatase activity|calmodulin binding			large_intestine(1)	1					Pimecrolimus(DB00337)	CATAGATACGGAAAGCAACTA	0.343000														24			6		0	0	0.001984	0	0
GNPDA2	132789	broad.mit.edu	37	4	44712985	44712985	+	Silent	SNP	C	T	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr4:44712985C>T	uc003gwy.3	-	4	736	c.579G>A	c.(577-579)gtG>gtA	p.V193V	GNPDA2_uc010iga.3_Silent_p.V159V|GNPDA2_uc011bzb.2_Silent_p.V123V|GNPDA2_uc003gwz.1_Silent_p.V193V	NM_138335	NP_612208	Q8TDQ7	GNPI2_HUMAN	Homo sapiens glucosamine-6-phosphate deaminase 2 (GNPDA2), mRNA.	193					N-acetylglucosamine metabolic process	cytoplasm	glucosamine-6-phosphate deaminase activity|hydrolase activity			endometrium(2)|large_intestine(1)|lung(7)|ovary(1)	11						TAGCATCCATCACTGTCCCCA	0.348000														92			16		0	0	0.006122	0	0
XIST	7503	broad.mit.edu	37	X	73064629	73064629	+	RNA	SNP	G	A	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chrX:73064629G>A	uc004ebm.1	-	0		c.7960C>T								Homo sapiens X (inactive)-specific transcript (non-protein coding) (XIST), non-coding RNA.																		TTATTCAGATGAGATAGGCCG	0.458000														55			27		0	0	0.005443	0	0
TUBA3C	7278	broad.mit.edu	37	13	19748260	19748260	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr13:19748260C>T	uc009zzj.3	-	4	1201	c.1096G>A	c.(1096-1098)Gga>Aga	p.G366R		NM_006001	NP_525125	Q13748	TBA3C_HUMAN	Homo sapiens tubulin, alpha 3c (TUBA3C), mRNA.	366					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		GCCAGGTCTCCCCCAGGGACC	0.587000														38			12		0	0	0.002450	0	0
ADAM32	203102	broad.mit.edu	37	8	39022299	39022299	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr8:39022299C>T	uc003xmt.4	+	7	856	c.611C>T	c.(610-612)tCt>tTt	p.S204F	ADAM32_uc011lch.2_Missense_Mutation_p.S211F|ADAM32_uc003xmu.4_Missense_Mutation_p.S204F	NM_145004	NP_659441	Q8TC27	ADA32_HUMAN	Homo sapiens ADAM metallopeptidase domain 32 (ADAM32), mRNA.	204	Peptidase M12B.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	31		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)			TACTGGGGCTCTGATAGCATG	0.274000														73			18		0	0	0.002299	0	0
SHBG	6462	broad.mit.edu	37	17	7534095	7534095	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr17:7534095C>T	uc002gie.2	+	2	339	c.301C>T	c.(301-303)Cga>Tga	p.R101*	SHBG_uc010cmu.2_Nonsense_Mutation_p.R43*|SHBG_uc010cmo.2_Nonsense_Mutation_p.R43*|SHBG_uc010cmp.2_Nonsense_Mutation_p.R43*|SHBG_uc010cmq.2_Nonsense_Mutation_p.R43*|SHBG_uc010cmr.2_Nonsense_Mutation_p.R43*|SHBG_uc010cms.2_Nonsense_Mutation_p.R43*|SHBG_uc010cmt.2_Nonsense_Mutation_p.R43*|SAT2_uc002gib.1_5'Flank|SAT2_uc002gic.2_5'Flank|SHBG_uc010cmz.2_Nonsense_Mutation_p.R43*|SHBG_uc010cmv.2_Nonsense_Mutation_p.R43*|SHBG_uc010cmw.2_Nonsense_Mutation_p.R43*|SHBG_uc010cmx.2_Nonsense_Mutation_p.R43*|SHBG_uc010cmy.2_Nonsense_Mutation_p.R43*|SHBG_uc002gid.3_Nonsense_Mutation_p.R43*|SHBG_uc010cnd.2_Nonsense_Mutation_p.R101*|SHBG_uc010cna.2_Nonsense_Mutation_p.R101*|SHBG_uc010vue.1_Nonsense_Mutation_p.R101*|SHBG_uc010vuf.1_Nonsense_Mutation_p.R101*|SHBG_uc010cnb.2_Nonsense_Mutation_p.R101*|SHBG_uc010cnc.2_Nonsense_Mutation_p.R101*	NM_001040	NP_001031	P04278	SHBG_HUMAN	Homo sapiens sex hormone-binding globulin (SHBG), transcript variant 1, mRNA.	101	Laminin G-like 1.				hormone transport	extracellular region	androgen binding|protein homodimerization activity	p.?(1)		cervix(1)|endometrium(2)|large_intestine(4)|lung(2)|skin(1)	10		all_cancers(10;0.0867)		READ - Rectum adenocarcinoma(115;0.168)	Danazol(DB01406)|Dromostanolone(DB00858)|Estradiol(DB00783)|Estrone(DB00655)|Fluoxymesterone(DB01185)|Hydrocortisone(DB00741)|Mitotane(DB00648)|Norethindrone(DB00717)|Testosterone(DB00624)	GCTGGGACTTCGAGACGGCAG	0.552000														28			7		0	0	0.003080	0	0
DHX57	90957	broad.mit.edu	37	2	39046275	39046275	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr2:39046275C>T	uc002rrf.3	-	17	3402	c.3303G>A	c.(3301-3303)tgG>tgA	p.W1101*	DHX57_uc002rrd.4_Nonsense_Mutation_p.W485*|DHX57_uc002rre.3_Nonsense_Mutation_p.W534*	NM_198963	NP_945314	Q6P158	DHX57_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57 (DHX57), mRNA.	1101							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				CTTTTTTATCCCAGGGAGATA	0.393000														38			11		0	0	0.000978	0	0
GLI3	2737	broad.mit.edu	37	7	42011936	42011936	+	Splice_Site	SNP	C	T	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr7:42011936C>T	uc011kbh.2	-	13	2194	c.2103_splice	c.e13+1	p.M701_splice	GLI3_uc011kbg.2_Splice_Site_p.M642_splice	NM_000168	NP_000159	P10071	GLI3_HUMAN	Homo sapiens GLI family zinc finger 3 (GLI3), mRNA.	701					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						AATGACATACCATTGGCTTCT	0.542000									Pallister-Hall syndrome;Greig Cephalopolysyndactyly					159			63		0	0	0.003610	0	0
IL7R	3575	broad.mit.edu	37	5	35876102	35876102	+	Silent	SNP	C	T	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr5:35876102C>T	uc003jjs.3	+	7	983	c.894C>T	c.(892-894)ttC>ttT	p.F298F	IL7R_uc011cop.2_Non-coding_Transcript	NM_002185	NP_002176	P16871	IL7RA_HUMAN	Homo sapiens interleukin 7 receptor (IL7R), mRNA.	298					immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			ATGTGAGTTTCAATCCTGAAA	0.418000			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency							41			24		0	0	0.003330	0	0
PRAMEF12	390999	broad.mit.edu	37	1	12835082	12835082	+	Silent	SNP	C	T	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr1:12835082C>T	uc001aui.3	+	0	99	c.72C>T	c.(70-72)gcC>gcT	p.A24A		NM_001080830	NP_001074299	O95522	PRA12_HUMAN	Homo sapiens PRAME family member 12 (PRAMEF12), mRNA.	24										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GGGCCTTGGCCATCCCCACCC	0.577000														49			28		0	0	0.001061	0	0
F2R	2149	broad.mit.edu	37	5	76028217	76028217	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr5:76028217G>A	uc003ken.4	+	1	432	c.167G>A	c.(166-168)tGg>tAg	p.W56*		NM_001992	NP_001983	P25116	PAR1_HUMAN	Homo sapiens coagulation factor II (thrombin) receptor (F2R), mRNA.	56					STAT protein import into nucleus|activation of caspase activity|anatomical structure morphogenesis|connective tissue replacement involved in inflammatory response wound healing|negative regulation of cell proliferation|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JAK-STAT cascade|positive regulation of MAPKKK cascade|positive regulation of blood coagulation|positive regulation of cell migration|positive regulation of collagen biosynthetic process|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of transcription, DNA-dependent|tyrosine phosphorylation of STAT protein	Golgi apparatus|caveola|extracellular region|integral to plasma membrane|platelet dense tubular network	receptor binding|thrombin receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(7)|ovary(3)	16		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Prostate(461;0.00955)|Ovarian(174;0.0129)		all cancers(79;4.43e-43)	Streptokinase(DB00086)	GAACCATTTTGGGAGGATGAG	0.353000														63			27		0	0	0.001786	0	0
EBF2	64641	broad.mit.edu	37	8	25747344	25747344	+	Silent	SNP	C	T	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr8:25747344C>T	uc003xes.2	-	7	940	c.675G>A	c.(673-675)ctG>ctA	p.L225L	DOCK5_uc003xek.3_Intron|EBF2_uc010lug.2_5'Flank	NM_022659	NP_073150	Q9HAK2	COE2_HUMAN	Homo sapiens early B-cell factor 2 (EBF2), mRNA.	225					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		CAGAAACAGCCAGGACGTGTC	0.463000														56			22		0	0	0.001882	0	0
OR10A2	341276	broad.mit.edu	37	11	6891672	6891672	+	Silent	SNP	C	G	G			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr11:6891672C>G	uc001meu.1	+	0	687	c.687C>G	c.(685-687)tcC>tcG	p.S229S		NM_001004460	NP_001004460	Q9H208	O10A2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily A, member 2 (OR10A2), mRNA.	229					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(12)|urinary_tract(1)	24		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		CTACATGTTCCTCACACCTCC	0.433000														111			57		0	0	0.003610	0	0
ROCK2	9475	broad.mit.edu	37	2	11355166	11355166	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr2:11355166G>A	uc002rbd.1	-	15	2185	c.1736C>T	c.(1735-1737)gCc>gTc	p.A579V		NM_004850	NP_004841	O75116	ROCK2_HUMAN	Homo sapiens Rho-associated, coiled-coil containing protein kinase 2 (ROCK2), mRNA.	579	Interaction with PPP1R12A.				axon guidance|cytokinesis|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		CCTTAACCGGGCTGCAGTATC	0.413000														55			11		0	0	0.000673	0	0
RIOK1	83732	broad.mit.edu	37	6	7417618	7417618	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr6:7417618C>T	uc003mxn.3	+	16	1825	c.1651C>T	c.(1651-1653)Cct>Tct	p.P551S	RIOK1_uc003mxo.3_Missense_Mutation_p.P310S	NM_031480	NP_694550	Q9BRS2	RIOK1_HUMAN	Homo sapiens RIO kinase 1 (yeast) (RIOK1), transcript variant 1, mRNA.	551							ATP binding|protein serine/threonine kinase activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19	Ovarian(93;0.0418)					AAACAAAATTCCTAAACATGT	0.328000														5			3		0	0	0.000248	0	0
RADIL	55698	broad.mit.edu	37	7	4874717	4874717	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr7:4874717C>T	uc003snj.1	-	3	1110	c.937G>A	c.(937-939)Ggg>Agg	p.G313R	RADIL_uc003sng.1_Non-coding_Transcript|RADIL_uc003sni.1_5'Flank|RADIL_uc011jwc.1_Missense_Mutation_p.G73R|RADIL_uc011jwd.1_Non-coding_Transcript	NM_018059	NP_060529	Q96JH8	RADIL_HUMAN	Homo sapiens Ras association and DIL domains (RADIL), mRNA.	313					cell adhesion|multicellular organismal development|signal transduction		protein binding			NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		ACCAGCCTCCCCGCGGCCTGG	0.701000														11			3		0	0	0.000248	0	0
BDP1	55814	broad.mit.edu	37	5	70858216	70858216	+	Missense_Mutation	SNP	T	A	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr5:70858216T>A	uc003kbp.1	+	37	7875	c.7612T>A	c.(7612-7614)Tta>Ata	p.L2538I	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.	2538					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			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)		TATACCTGGATTAAGAAAGAA	0.358000														57			13		0	0	0.001855	0	0
ZFHX4	79776	broad.mit.edu	37	8	77690630	77690630	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr8:77690630C>T	uc003yau.2	+	3	3667	c.3280C>T	c.(3280-3282)Ctc>Ttc	p.L1094F	ZFHX4_uc003yaw.1_Missense_Mutation_p.L1068F	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	1068						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)			GGAGGACAACCTCAGTGAGAT	0.532000										HNSCC(33;0.089)				123			96		0	0	0.003610	0	0
RAPGEFL1	51195	broad.mit.edu	37	17	38348880	38348880	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr17:38348880G>A	uc010cwu.1	+	11	1551	c.1061G>A	c.(1060-1062)aGc>aAc	p.S354N	RAPGEFL1_uc010wfd.1_Missense_Mutation_p.S290N	NM_016339	NP_057423	Q9UHV5	RPGFL_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF)-like 1 (RAPGEFL1), mRNA.	560					G-protein coupled receptor protein signaling pathway|nervous system development|small GTPase mediated signal transduction	intracellular|membrane fraction	guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)	15						AACCACAAAAGCTACCGAGAA	0.532000														143			75		0	0	0.003610	0	0
XRN1	54464	broad.mit.edu	37	3	142030585	142030585	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr3:142030585G>A	uc003eus.3	-	41	4956	c.4889C>T	c.(4888-4890)cCa>cTa	p.P1630L	XRN1_uc010huu.3_Missense_Mutation_p.P1084L|XRN1_uc003eut.3_Missense_Mutation_p.P1617L|XRN1_uc003euu.3_Missense_Mutation_p.P1618L	NM_019001	NP_061874	Q8IZH2	XRN1_HUMAN	Homo sapiens 5'-3' exoribonuclease 1 (XRN1), transcript variant 1, mRNA.	1630					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	Golgi apparatus|cytosol|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|RNA binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						AGTCTGAACTGGAGTGGCTTG	0.418000														54			16		0	0	0.001882	0	0
RYR2	6262	broad.mit.edu	37	1	237754135	237754135	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr1:237754135G>A	uc001hyl.1	+	30	4123	c.4003G>A	c.(4003-4005)Gaa>Aaa	p.E1335K		NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	1335	4 X approximate repeats.				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)			GAATGACTTGGAAGATTATGA	0.522000														77			10		0	0	0.000443	0	0
YTHDC2	64848	broad.mit.edu	37	5	112889319	112889319	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr5:112889319G>A	uc003kqn.3	+	13	2102	c.1900G>A	c.(1900-1902)Gaa>Aaa	p.E634K	YTHDC2_uc010jce.2_Missense_Mutation_p.E634K|YTHDC2_uc010jcf.2_Missense_Mutation_p.E334K	NM_022828	NP_073739	Q9H6S0	YTDC2_HUMAN	Homo sapiens YTH domain containing 2 (YTHDC2), mRNA.	634	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|nucleic acid binding	p.E634K(4)		NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		TGGATATGACGAAATTGTTGG	0.363000														68			19		0	0	0.001882	0	0
DARS2	55157	broad.mit.edu	37	1	173808592	173808592	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr1:173808592G>A	uc001gjh.2	+	9	1499	c.928G>A	c.(928-930)Gat>Aat	p.D310N		NM_018122	NP_060592	Q6PI48	SYDM_HUMAN	Homo sapiens aspartyl-tRNA synthetase 2, mitochondrial (DARS2), nuclear gene encoding mitochondrial protein, mRNA.	310					tRNA aminoacylation for protein translation	mitochondrial matrix|nucleus	ATP binding|aspartate-tRNA ligase activity|nucleic acid binding	p.D310H(2)		breast(4)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1)	30					L-Aspartic Acid(DB00128)	CAATGACAAAGATCCTGTGGT	0.433000														52			28		0	0	0.005443	0	0
MMP8	4317	broad.mit.edu	37	11	102589230	102589231	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr11:102589230_102589231GG>AA	uc001phe.2	-	4	797_798	c.698_699CC>TT	c.(697-699)gcc>gTT	p.A233V	MMP8_uc010rut.1_Missense_Mutation_p.A168V|MMP8_uc010ruu.1_Missense_Mutation_p.A210V	NM_002424	NP_002415	P22894	MMP8_HUMAN	Homo sapiens matrix metallopeptidase 8 (neutrophil collagenase) (MMP8), mRNA.	233					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(4)|skin(6)|stomach(1)|urinary_tract(1)	32	all_cancers(8;0.00092)|all_epithelial(12;0.00389)|Lung NSC(15;0.227)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0555)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.189)	BRCA - Breast invasive adenocarcinoma(274;0.0141)		GATACATCAAGGCACCAGGGTC	0.465000														32			10		0	0	0.004672	0	0
DSCR6	53820	broad.mit.edu	37	21	38385891	38385891	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr21:38385891G>A	uc002yvv.3	+	2	422	c.212G>A	c.(211-213)gGa>gAa	p.G71E	DSCR6_uc011aec.2_5'UTR|DSCR6_uc010gnd.3_Intron	NM_018962	NP_061835	P57055	DSCR6_HUMAN	Homo sapiens Down syndrome critical region gene 6 (DSCR6), mRNA.	71						nucleus				NS(1)|breast(1)|kidney(2)|lung(3)|upper_aerodigestive_tract(1)	8		Myeloproliferative disorder(46;0.0632)				GGATCAAAGGGAGCCTTTGGG	0.413000														26			6		0	0	0.003080	0	0
WNT8B	7479	broad.mit.edu	37	10	102222943	102222943	+	Silent	SNP	T	C	C			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr10:102222943T>C	uc001krb.3	+	0	132	c.18T>C	c.(16-18)ccT>ccC	p.P6P		NM_003393	NP_003384	Q93098	WNT8B_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 8B (WNT8B), mRNA.	6					Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway, calcium modulating pathway|anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|determination of dorsal identity|endoderm development|eye development|gastrulation|hypothalamus development|negative regulation of anterior neural cell fate commitment of the neural plate by Wnt receptor signaling pathway|otic placode formation|positive regulation of gene expression|response to estradiol stimulus	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity			breast(1)|large_intestine(1)|ovary(1)|skin(1)	4		Colorectal(252;0.117)		Epithelial(162;1.87e-10)|all cancers(201;1.64e-08)		TTTCAAAGCCTTCTGTGTACA	0.443000														72			37		0	0	0.001485	0	0
DPYS	1807	broad.mit.edu	37	8	105441912	105441912	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr8:105441912C>T	uc003yly.4	-	4	940	c.811G>A	c.(811-813)Gaa>Aaa	p.E271K		NM_001385	NP_001376	Q14117	DPYS_HUMAN	Homo sapiens dihydropyrimidinase (DPYS), mRNA.	271					protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			GCTATGGGTTCACCATAGACC	0.418000														47			43		0	0	0.003214	0	0
IQCF1	132141	broad.mit.edu	37	3	51928924	51928924	+	Silent	SNP	G	A	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr3:51928924G>A	uc003dbv.3	-	3	698	c.600C>T	c.(598-600)ccC>ccT	p.P200P	IQCF1_uc003dbq.4_Intron	NM_152397	NP_689610	Q8N6M8	IQCF1_HUMAN	Homo sapiens IQ motif containing F1 (IQCF1), mRNA.	200										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		TTATTGAGAAGGGAATACACT	0.488000														36			12		0	0	0.001368	0	0
KDM5A	5927	broad.mit.edu	37	12	417100	417100	+	Silent	SNP	G	A	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr12:417100G>A	uc001qif.1	-	22	3813	c.3450C>T	c.(3448-3450)gcC>gcT	p.A1150A		NM_001042603	NP_001036068	P29375	KDM5A_HUMAN	Homo sapiens lysine (K)-specific demethylase 5A (KDM5A), mRNA.	1150					chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						TTGTCATCTTGGCTAGGTTGG	0.438000			T	NUP98	AML									107			45		0	0	0.003610	0	0
PAPPA2	60676	broad.mit.edu	37	1	176762728	176762728	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr1:176762728C>T	uc001gkz.3	+	19	6217	c.5053C>T	c.(5053-5055)Ccc>Tcc	p.P1685S	PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	1685	Sushi 5.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	p.P1684P(1)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TGTAATCCCCCCCAGTGACCC	0.473000														66			34		0	0	0.003271	0	0
EGFLAM	133584	broad.mit.edu	37	5	38438540	38438540	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr5:38438540G>A	uc003jlc.2	+	16	2793	c.2447G>A	c.(2446-2448)gGg>gAg	p.G816E	EGFLAM_uc003jlb.2_Missense_Mutation_p.G816E|EGFLAM_uc003jle.2_Missense_Mutation_p.G582E|EGFLAM_uc003jlf.2_Missense_Mutation_p.G182E	NM_001205301	NP_001192230	Q63HQ2	EGFLA_HUMAN	Homo sapiens EGF-like, fibronectin type III and laminin G domains (EGFLAM), transcript variant 5, mRNA.	816	EGF-like 3.					cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					GGCTTTGAGGGGCTTCACTGC	0.622000														16			7		0	0	0.000443	0	0
LTBP2	4053	broad.mit.edu	37	14	75052732	75052732	+	Missense_Mutation	SNP	C	T	T	rs146027819		TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr14:75052732C>T	uc001xqa.3	-	2	1042	c.655G>A	c.(655-657)Gag>Aag	p.E219K		NM_000428	NP_000419	Q14767	LTBP2_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 2 (LTBP2), mRNA.	219	EGF-like 1.				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		ATGACCTCCTCGCAGCGGGCT	0.672000														9			8		0	0	0.004482	0	0
RGS22	26166	broad.mit.edu	37	8	100975164	100975164	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr8:100975164C>T	uc003yjb.1	-	24	3853	c.3658G>A	c.(3658-3660)Gag>Aag	p.E1220K	RGS22_uc003yja.1_Missense_Mutation_p.E1039K|RGS22_uc003yjc.1_Missense_Mutation_p.E1208K|RGS22_uc022azf.1_Missense_Mutation_p.E609K	NM_015668	NP_056483	Q8NE09	RGS22_HUMAN	Homo sapiens regulator of G-protein signaling 22 (RGS22), mRNA.	1220					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			AGAATTCTCTCCTGTTCTAAG	0.313000														69			8		0	0	0.000443	0	0
PPFIBP1	8496	broad.mit.edu	37	12	27832436	27832436	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr12:27832436G>A	uc001ric.2	+	18	2025	c.1648G>A	c.(1648-1650)Gag>Aag	p.E550K	PPFIBP1_uc010sjr.1_Missense_Mutation_p.E381K|PPFIBP1_uc001rib.2_Missense_Mutation_p.E544K|PPFIBP1_uc001ria.3_Missense_Mutation_p.E519K|PPFIBP1_uc001rid.2_Missense_Mutation_p.E397K|PPFIBP1_uc001rif.2_Missense_Mutation_p.E57K	NM_177444	NP_803193	Q86W92	LIPB1_HUMAN	Homo sapiens PTPRF interacting protein, binding protein 1 (liprin beta 1) (PPFIBP1), transcript variant 2, mRNA.	550					cell adhesion	plasma membrane	protein binding		PPFIBP1/ALK(3)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1)	32	Lung SC(9;0.0873)					AACAGAAAAAGAGACAGCAGA	0.418000														103			31		0	0	0.002445	0	0
OR4L1	122742	broad.mit.edu	37	14	20528638	20528638	+	Silent	SNP	G	A	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr14:20528638G>A	uc001vwn.1	+	0	435	c.435G>A	c.(433-435)gcG>gcA	p.A145A		NM_001004717	NP_001004717	Q8NH43	OR4L1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily L, member 1 (OR4L1), mRNA.	145					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		AGGGGTTTGCGATACTTTCAT	0.388000														53			24		0	0	0.002780	0	0
ZNF295	49854	broad.mit.edu	37	21	43411721	43411721	+	Silent	SNP	G	A	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr21:43411721G>A	uc021wjo.1	-	0	2484	c.2484C>T	c.(2482-2484)tcC>tcT	p.S828S	ZNF295_uc002yzz.4_Silent_p.S627S|ZNF295_uc002zab.4_Silent_p.S828S|ZNF295_uc002yzy.4_Silent_p.S828S|ZNF295_uc002zaa.4_Silent_p.S828S	NM_020727	NP_065778	Q9ULJ3	ZN295_HUMAN	Homo sapiens zinc finger protein 295 (ZNF295), transcript variant 2, mRNA.	828					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						GCTCAGGCTGGGATTGGGGCC	0.458000														42			9		0	0	0.000673	0	0
RPS6KA2	6196	broad.mit.edu	37	6	166923790	166923790	+	Silent	SNP	G	A	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr6:166923790G>A	uc003qvd.1	-	5	542	c.429C>T	c.(427-429)caC>caT	p.H143H	RPS6KA2_uc011ego.1_Silent_p.H29H|RPS6KA2_uc010kkl.1_Silent_p.H29H|RPS6KA2_uc003qvb.1_Silent_p.H118H|RPS6KA2_uc003qvc.1_Silent_p.H126H|MIR1913_uc021zig.1_5'Flank	NM_021135	NP_066958	Q15349	KS6A2_HUMAN	Homo sapiens ribosomal protein S6 kinase, 90kDa, polypeptide 2 (RPS6KA2), transcript variant 1, mRNA.	118	Protein kinase 1.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|axon guidance|innate immune response|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)		CAATGAAGGGGTGATTCACTT	0.408000														29			10		0	0	0.000443	0	0
KIAA1549	57670	broad.mit.edu	37	7	138601867	138601867	+	Silent	SNP	A	G	G			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr7:138601867A>G	uc011kql.2	-	1	2554	c.2505T>C	c.(2503-2505)ggT>ggC	p.G835G	KIAA1549_uc011kqj.2_Silent_p.G835G	NM_001164665	NP_001158137	Q9HCM3	K1549_HUMAN	Homo sapiens KIAA1549 (KIAA1549), transcript variant 2, mRNA.	835						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						TCAACACCGTACCAGTGGGAA	0.547000			O	BRAF	pilocytic astrocytoma									25			14		0	0	0.001855	0	0
CAPN13	92291	broad.mit.edu	37	2	30966411	30966411	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr2:30966411G>A	uc021vfn.1	-	11	1315	c.1283C>T	c.(1282-1284)tCc>tTc	p.S428F	CAPN13_uc002rnm.3_Non-coding_Transcript|CAPN13_uc021vfm.1_Missense_Mutation_p.S424F|CAPN13_uc002rno.3_5'UTR	NM_144575	NP_653176	Q6MZZ7	CAN13_HUMAN	Homo sapiens calpain 13 (CAPN13), mRNA.	428					proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					TCTGAACGAGGAAAAAAACAC	0.473000														66			32		0	0	0.002445	0	0
MAP7D2	256714	broad.mit.edu	37	X	20062573	20062573	+	Missense_Mutation	SNP	C	T	T	rs141115910	byFrequency	TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chrX:20062573C>T	uc010nfo.2	-	6	905	c.788G>A	c.(787-789)cGa>cAa	p.R263Q	MAP7D2_uc004czq.2_Missense_Mutation_p.R107Q|MAP7D2_uc011mji.2_Missense_Mutation_p.R170Q|MAP7D2_uc004czr.2_Missense_Mutation_p.R222Q|MAP7D2_uc011mjj.2_Missense_Mutation_p.R177Q	NM_001168465	NP_001161937	Q96T17	MA7D2_HUMAN	Homo sapiens MAP7 domain containing 2 (MAP7D2), transcript variant 1, mRNA.	222										NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	37						CTCAATGTTTCGAGTGGGTGA	0.458000														147			16		0	0	0.006122	0	0
RYR3	6263	broad.mit.edu	37	15	34040353	34040353	+	Silent	SNP	G	A	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr15:34040353G>A	uc001zhi.3	+	53	8098	c.8028G>A	c.(8026-8028)ctG>ctA	p.L2676L	RYR3_uc010bar.3_Silent_p.L2676L	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	2676	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.S2675F(1)		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)		GAGAGTCCCTGAAAACCATGC	0.527000														75			27		0	0	0.002096	0	0
NAV3	89795	broad.mit.edu	37	12	78401199	78401199	+	Silent	SNP	C	A	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr12:78401199C>A	uc001syp.3	+	7	2054	c.1881C>A	c.(1879-1881)acC>acA	p.T627T	NAV3_uc001syo.3_Silent_p.T627T	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	Homo sapiens neuron navigator 3 (NAV3), mRNA.	627						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	p.T627T(2)		NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						ACCCGAATACCGCGACAGTGG	0.488000										HNSCC(70;0.22)				128			7		0.00307968	0.00638487	0.003080	1	0
GTF3C1	2975	broad.mit.edu	37	16	27556813	27556813	+	Missense_Mutation	SNP	A	C	C			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr16:27556813A>C	uc002dov.2	-	1	293	c.253T>G	c.(253-255)Ttg>Gtg	p.L85V	GTF3C1_uc002dou.3_Missense_Mutation_p.L85V	NM_001520	NP_001511	Q12789	TF3C1_HUMAN	Homo sapiens general transcription factor IIIC, polypeptide 1, alpha 220kDa (GTF3C1), mRNA.	85						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						CTAGACTCCAAAATTCCAGTT	0.428000														21			13		0	0	0.001368	0	0
GDF10	2662	broad.mit.edu	37	10	48429199	48429199	+	Silent	SNP	C	T	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr10:48429199C>T	uc001jfb.3	-	1	1115	c.687G>A	c.(685-687)gaG>gaA	p.E229E	GDF10_uc009xnp.3_Silent_p.E228E|GDF10_uc009xnq.2_Silent_p.E229E	NM_004962	NP_004953	P55107	BMP3B_HUMAN	Homo sapiens growth differentiation factor 10 (GDF10), mRNA.	229					growth|skeletal system development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1)	31						CCGGGTCCCTCTCCTCAGAAT	0.687000														7			6		0	0	0.001168	0	0
ALYREF	10189	broad.mit.edu	37	17	79846180	79846180	+	Silent	SNP	C	T	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr17:79846180C>T	uc002kbu.2	-	4	723	c.717G>A	c.(715-717)agG>agA	p.R239R		NM_005782	NP_005773	Q86V81	THOC4_HUMAN	Homo sapiens Aly/REF export factor (ALYREF), mRNA.	232					intronless viral mRNA export from host nucleus|mRNA 3'-end processing|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nuclear speck|transcription export complex	RNA binding|nucleotide binding|protein binding										GCTTTGAATTCCTGCCGGCAC	0.642000														19			7		0	0	0.001984	0	0
PPIAL4G	644591	broad.mit.edu	37	1	143767503	143767503	+	Missense_Mutation	SNP	T	G	G			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr1:143767503T>G	uc001ejt.3	-	0	379	c.346A>C	c.(346-348)Act>Cct	p.T116P		NM_001123068	NP_001116540	A2BFH1	PAL4G_HUMAN	Homo sapiens peptidylprolyl isomerase A (cyclophilin A)-like 4G (PPIAL4G), mRNA.	116	PPIase cyclophilin-type.				protein folding	cytoplasm	peptidyl-prolyl cis-trans isomerase activity			breast(1)|endometrium(2)|kidney(1)|lung(8)|ovary(1)|skin(1)	14						GTCTTGGCAGTGCAGATGAAA	0.473000														382			53		0	0	0.003610	0	0
SHPRH	257218	broad.mit.edu	37	6	146264611	146264611	+	Silent	SNP	G	A	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr6:146264611G>A	uc003qlf.3	-	8	2305	c.1906C>T	c.(1906-1908)Cta>Tta	p.L636L	SHPRH_uc003qle.3_Silent_p.L636L|SHPRH_uc003qlg.1_Silent_p.L192L|SHPRH_uc003qlj.1_Silent_p.L525L	NM_001042683	NP_001036148	Q149N8	SHPRH_HUMAN	Homo sapiens SNF2 histone linker PHD RING helicase (SHPRH), transcript variant 1, mRNA.	636					DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		GCATGATTTAGAGATTCAGCA	0.393000														53			11		0	0	0.000673	0	0
DUSP26	78986	broad.mit.edu	37	8	33454934	33454934	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr8:33454934C>T	uc003xjp.3	-	1	433	c.100G>A	c.(100-102)Gag>Aag	p.E34K	DUSP26_uc003xjq.3_Missense_Mutation_p.E34K	NM_024025	NP_076930	Q9BV47	DUS26_HUMAN	Homo sapiens dual specificity phosphatase 26 (putative) (DUSP26), mRNA.	34						Golgi apparatus|nucleus	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)	15				KIRC - Kidney renal clear cell carcinoma(67;0.0918)|Kidney(114;0.111)		GTTGGCATCTCCTCCAGGGTC	0.557000														39			14		0	0	0.004990	0	0
NEO1	4756	broad.mit.edu	37	15	73536753	73536753	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr15:73536753C>T	uc002avm.4	+	8	1712	c.1520C>T	c.(1519-1521)aCc>aTc	p.T507I	NEO1_uc010ukx.2_Missense_Mutation_p.T507I|NEO1_uc010uky.2_Missense_Mutation_p.T507I|NEO1_uc002avn.4_Missense_Mutation_p.T527I|NEO1_uc010ukz.2_5'UTR	NM_002499	NP_002490	Q92859	NEO1_HUMAN	Homo sapiens neogenin 1 (NEO1), transcript variant 1, mRNA.	507	Fibronectin type-III 1.				axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						ATGCCAGCGACCGTGTACATC	0.458000														43			10		0	0	0.000978	0	0
ZBTB9	221504	broad.mit.edu	37	6	33423652	33423652	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr6:33423652C>T	uc003oeq.3	+	1	1043	c.775C>T	c.(775-777)Ccc>Tcc	p.P259S	ZBTB9_uc021ywp.1_Missense_Mutation_p.P259S	NM_152735	NP_689948	Q96C00	ZBTB9_HUMAN	Homo sapiens zinc finger and BTB domain containing 9 (ZBTB9), mRNA.	259	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P259S(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(1)|upper_aerodigestive_tract(2)	11						GACTGCTACTCCCCGAAAGCT	0.587000														36			22		0	0	0.004656	0	0
OR1S1	219959	broad.mit.edu	37	11	57982333	57982333	+	Silent	SNP	C	T	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr11:57982333C>T	uc010rkc.2	+	0	117	c.117C>T	c.(115-117)ctC>ctT	p.L39L		NM_001004458	NP_001004458	Q8NH92	OR1S1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily S, member 1 (OR1S1), mRNA.	39					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3)	48		Breast(21;0.0589)				ATCAAAACCTCCTCTTTGTGC	0.453000														121			13		0	0	0.001855	0	0
DMBX1	127343	broad.mit.edu	37	1	46977876	46977876	+	Missense_Mutation	SNP	G	A	A	rs142474862		TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr1:46977876G>A	uc001cpx.3	+	3	874	c.859G>A	c.(859-861)Gaa>Aaa	p.E287K	DMBX1_uc001cpw.3_Missense_Mutation_p.E282K	NM_147192	NP_671725	Q8NFW5	DMBX1_HUMAN	Homo sapiens diencephalon/mesencephalon homeobox 1 (DMBX1), transcript variant 2, mRNA.	287					brain development|developmental growth|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)					CTCGTCCTTCGAAGTAGGGGG	0.652000														35			12		0	0	0.000978	0	0
MYL6B	140465	broad.mit.edu	37	12	56548872	56548872	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr12:56548872T>C	uc001sjs.3	+	3	494	c.236T>C	c.(235-237)gTg>gCg	p.V79A	MYL6B_uc009zoo.3_Missense_Mutation_p.V79A|MYL6B_uc001sjt.3_Missense_Mutation_p.V79A	NM_002475	NP_002466	P14649	MYL6B_HUMAN	Homo sapiens myosin, light chain 6B, alkali, smooth muscle and non-muscle (MYL6B), transcript variant 2, mRNA.	79	EF-hand 1.				muscle filament sliding|skeletal muscle tissue development	cytosol|muscle myosin complex|unconventional myosin complex	calcium ion binding|motor activity|protein binding|structural constituent of muscle			endometrium(2)|kidney(1)|large_intestine(4)	7			OV - Ovarian serous cystadenocarcinoma(18;0.0979)			TTTGACCGAGTGGGGGATGGC	0.582000														163			55		0	0	0.003610	0	0
TUBGCP5	114791	broad.mit.edu	37	15	22868844	22868844	+	Silent	SNP	C	T	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr15:22868844C>T	uc001yuq.2	+	19	2846	c.2716C>T	c.(2716-2718)Cta>Tta	p.L906L	TUBGCP5_uc001yur.4_Silent_p.L906L	NM_001102610	NP_001096080	Q96RT8	GCP5_HUMAN	Homo sapiens tubulin, gamma complex associated protein 5 (TUBGCP5), transcript variant 2, mRNA.	906					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding	p.I905V(1)		breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	46		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)		TTCCAAGATTCTACACAGTAC	0.393000														39			9		0	0	0.000443	0	0
POLR3E	55718	broad.mit.edu	37	16	22334249	22334249	+	Silent	SNP	C	T	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr16:22334249C>T	uc002dkk.3	+	13	1221	c.1065C>T	c.(1063-1065)ttC>ttT	p.F355F	POLR3E_uc002dkj.1_Silent_p.F355F|POLR3E_uc002dkm.3_Silent_p.F319F|POLR3E_uc010vbr.2_Silent_p.F355F|POLR3E_uc002dkl.3_Silent_p.F355F|POLR3E_uc010vbs.2_Silent_p.F319F|POLR3E_uc010vbt.2_Silent_p.F299F	NM_018119	NP_060589	Q9NVU0	RPC5_HUMAN	Homo sapiens polymerase (RNA) III (DNA directed) polypeptide E (80kD) (POLR3E), mRNA.	355					innate immune response|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA-directed RNA polymerase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.012)		GCCGAGACTTCGTTGTAAGTA	0.642000														8			8		0	0	0.004482	0	0
ODZ1	10178	broad.mit.edu	37	X	123518064	123518064	+	Silent	SNP	G	A	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chrX:123518064G>A	uc010nqy.3	-	29	6781	c.6717C>T	c.(6715-6717)ggC>ggT	p.G2239G	ODZ1_uc011muj.2_Silent_p.G2238G|ODZ1_uc004euj.3_Silent_p.G2232G	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA.	2232					immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding	p.A2239D(1)		NS(4)|breast(7)|cervix(3)|endometrium(23)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(36)|liver(1)|lung(93)|ovary(13)|pancreas(3)|prostate(2)|skin(10)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	212						TCTGCAGCAGGCCATTAGAAT	0.463000														55			17		0	0	0.004007	0	0
SMARCE1	6605	broad.mit.edu	37	17	38787946	38787946	+	Splice_Site	SNP	C	T	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr17:38787946C>T	uc002hux.2	-	9	839	c.715_splice	c.e9-1	p.R239_splice	SMARCE1_uc010wff.1_Splice_Site_p.R204_splice|SMARCE1_uc010wfg.1_Splice_Site_p.R169_splice|SMARCE1_uc002huy.2_Splice_Site_p.R204_splice|SMARCE1_uc010wfh.1_Splice_Site_p.R169_splice|SMARCE1_uc010wfi.1_Splice_Site_p.R221_splice	NM_003079	NP_003070	Q969G3	SMCE1_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 (SMARCE1), mRNA.	239					chromatin modification|negative regulation of transcription, DNA-dependent|nervous system development|nucleosome disassembly|regulation of transcription from RNA polymerase II promoter	SWI/SNF complex|nBAF complex|npBAF complex|nuclear chromosome|transcriptional repressor complex	DNA binding|N-acetyltransferase activity|chromatin binding|protein N-terminus binding|protein binding|transcription coactivator activity			large_intestine(1)	1		Breast(137;0.000812)				CTAGTTTTCGCTGCAAGACAG	0.348000														33			21		0	0	0.001882	0	0
OR10A7	121364	broad.mit.edu	37	12	55615123	55615123	+	Silent	SNP	C	T	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr12:55615123C>T	uc010spf.2	+	0	315	c.315C>T	c.(313-315)ttC>ttT	p.F105F		NM_001005280	NP_001005280	Q8NGE5	O10A7_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily A, member 7 (OR10A7), mRNA.	105					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3)	24						ACTTCTTCTTCTTCTTTGGCA	0.423000														124			26		0	0	0.002836	0	0
SOWAHA	134548	broad.mit.edu	37	5	132150810	132150810	+	Silent	SNP	G	T	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr5:132150810G>T	uc003kxw.3	+	0	1778	c.1497G>T	c.(1495-1497)tcG>tcT	p.S499S		NM_175873	NP_787069	Q2M3V2	ANR43_HUMAN	Homo sapiens sosondowah ankyrin repeat domain family member A (SOWAHA), mRNA.	499																	TGAAGAAGTCGAGCTCCTTCA	0.587000														31			10		4.68919e-08	9.90304e-08	0.000673	1	0
ILDR2	387597	broad.mit.edu	37	1	166908769	166908769	+	Missense_Mutation	SNP	C	A	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr1:166908769C>A	uc001gdx.2	-	3	594	c.538G>T	c.(538-540)Gct>Tct	p.A180S		NM_199351	NP_955383	Q71H61	ILDR2_HUMAN	Homo sapiens immunoglobulin-like domain containing receptor 2 (ILDR2), mRNA.	180						integral to membrane				NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	22						ATCTCCACAGCAAAACTGGGC	0.423000														48			22		3.10358e-05	6.53917e-05	0.002299	1	0
IGFLR1	79713	broad.mit.edu	37	19	36230277	36230278	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr19:36230277_36230278GG>AA	uc002obd.4	-	4	1238_1239	c.971_972CC>TT	c.(970-972)tcc>tTT	p.S324F	IGFLR1_uc002obb.3_Missense_Mutation_p.S136F|IGFLR1_uc002obc.3_Missense_Mutation_p.S324F|IGFLR1_uc010xsy.2_Non-coding_Transcript|IGFLR1_uc010eej.3_Missense_Mutation_p.S404F	NM_024660	NP_078936	Q9H665	IGFR1_HUMAN	Homo sapiens IGF-like family receptor 1 (IGFLR1), mRNA.	324						integral to membrane|plasma membrane	protein binding|receptor activity			endometrium(2)|kidney(3)|large_intestine(1)|lung(8)|prostate(1)	15						GCTGGCCCAGGGAGGCAGAGGG	0.644000														4			3		0	0	0.004672	0	0
ZMIZ2	83637	broad.mit.edu	37	7	44805830	44805830	+	Silent	SNP	C	T	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr7:44805830C>T	uc003tlr.3	+	16	2433	c.2310C>T	c.(2308-2310)acC>acT	p.T770T	ZMIZ2_uc003tlq.3_Silent_p.T712T|ZMIZ2_uc003tls.3_Silent_p.T744T|ZMIZ2_uc003tlt.3_Silent_p.T393T|ZMIZ2_uc010kyj.3_Silent_p.T292T|ZMIZ2_uc003tlu.3_Silent_p.T51T|ZMIZ2_uc010kyk.2_5'Flank	NM_031449	NP_113637	Q8NF64	ZMIZ2_HUMAN	Homo sapiens zinc finger, MIZ-type containing 2 (ZMIZ2), transcript variant 1, mRNA.	770	Pro-rich.				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding			breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						GCACCCCAACCCTTGCTGAGT	0.637000														40			21		0	0	0.001523	0	0
ABI3	51225	broad.mit.edu	37	17	47297556	47297556	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr17:47297556C>T	uc002iop.1	+	5	1168	c.670C>T	c.(670-672)Ccc>Tcc	p.P224S	ABI3_uc002ioq.1_Missense_Mutation_p.P218S	NM_016428	NP_057512	Q9P2A4	ABI3_HUMAN	Homo sapiens ABI family, member 3 (ABI3), transcript variant 1, mRNA.	224	Pro-rich.				cellular component movement|regulation of cell migration	cytoplasm|lamellipodium	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	12			Epithelial(5;6.37e-06)|all cancers(6;6.36e-05)			CGGTGGGGCCCCCACGCCCAA	0.687000										HNSCC(55;0.14)				17			9		0	0	0.000673	0	0
SPAG16	79582	broad.mit.edu	37	2	214354699	214354699	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr2:214354699C>T	uc002veq.3	+	9	1047	c.955C>T	c.(955-957)Ccc>Tcc	p.P319S	SPAG16_uc010fuz.2_Missense_Mutation_p.P170S|SPAG16_uc002ver.3_Missense_Mutation_p.P265S|SPAG16_uc010zjk.2_Missense_Mutation_p.P225S	NM_024532	NP_078808	Q8N0X2	SPG16_HUMAN	Homo sapiens sperm associated antigen 16 (SPAG16), transcript variant 1, mRNA.	319					cilium assembly	cilium axoneme|flagellar axoneme		p.P319S(2)		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)		TTCAGAATTTCCCATAGATAT	0.308000														100			20		0	0	0.002780	0	0
SCGB1D4	404552	broad.mit.edu	37	11	62065029	62065029	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr11:62065029G>A	uc001ntd.1	-	1	211	c.157C>T	c.(157-159)Cca>Tca	p.P53S		NM_206998	NP_996881	Q6XE38	SG1D4_HUMAN	Homo sapiens secretoglobin, family 1D, member 4 (SCGB1D4), mRNA.	53						extracellular region	binding			lung(1)|prostate(1)	2						AGAGCTTCTGGAGGTGGATTA	0.448000														149			56		0	0	0.003610	0	0
KY	339855	broad.mit.edu	37	3	134322923	134322923	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr3:134322923G>A	uc010hty.3	-	10	1546	c.1484C>T	c.(1483-1485)tCc>tTc	p.S495F	KY_uc011blw.2_3'UTR|KY_uc011blx.2_Missense_Mutation_p.S474F	NM_178554	NP_848649	Q8NBH2	KY_HUMAN	Homo sapiens kyphoscoliosis peptidase (KY), mRNA.	495						Z disc|cytoskeleton	peptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|lung(12)|ovary(2)|upper_aerodigestive_tract(2)	21						CCCGTGGAGGGAAGCCAGGAC	0.617000														10			5		0	0	0.001984	0	0
LILRB3	11025	broad.mit.edu	37	19	54803599	54803599	+	Silent	SNP	C	T	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr19:54803599C>T	uc002qfd.3	-	2	317	c.225G>A	c.(223-225)caG>caA	p.Q75Q	LILRB3_uc002qew.2_Intron|LILRB3_uc010erk.3_Silent_p.Q75Q	NM_006865	NP_006856	O75022	LIRB3_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3 (LILRA3), transcript variant 1, mRNA.	75	Ig-like C2-type 1.				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	transmembrane receptor activity			endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TCACAAGCTCCTGTGGGATCC	0.542000														77			18		0	0	0.001216	0	0
COL20A1	57642	broad.mit.edu	37	20	61929332	61929332	+	Silent	SNP	G	A	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr20:61929332G>A	uc011aau.2	+	2	253	c.153G>A	c.(151-153)ggG>ggA	p.G51G		NM_020882	NP_065933	Q9P218	COKA1_HUMAN	Homo sapiens collagen, type XX, alpha 1 (COL20A1), mRNA.	51	Fibronectin type-III 1.				cell adhesion	collagen|extracellular space	structural molecule activity			NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					AGTCGGAGGGGAGCGGCCTCG	0.632000														27			11		0	0	0.002450	0	0
PRR5-ARHGAP8	553158	broad.mit.edu	37	22	45255643	45255643	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr22:45255643C>T	uc003bfd.3	+	15	1817	c.1540C>T	c.(1540-1542)Cgc>Tgc	p.R514C	PRR5-ARHGAP8_uc011aqi.2_Missense_Mutation_p.R426C|PRR5-ARHGAP8_uc011aqj.2_Missense_Mutation_p.R357C|PRR5-ARHGAP8_uc010gzv.3_Intron|PRR5-ARHGAP8_uc003bfj.3_Missense_Mutation_p.R335C|PRR5-ARHGAP8_uc003bfk.3_Missense_Mutation_p.R304C|PRR5-ARHGAP8_uc003bfl.3_Non-coding_Transcript	NM_181335	NP_851852			Homo sapiens Rho GTPase activating protein 8 (ARHGAP8), transcript variant 2, mRNA.											breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(10)|prostate(1)|skin(8)	30						CACTGGCTGCCGCCAGATCTT	0.677000														36			10		0	0	0.002450	0	0
MUSK	4593	broad.mit.edu	37	9	113449463	113449463	+	Missense_Mutation	SNP	C	G	G			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr9:113449463C>G	uc022blv.1	+	2	407	c.273C>G	c.(271-273)gaC>gaG	p.D91E	MUSK_uc022blt.1_Missense_Mutation_p.D91E|MUSK_uc004bez.2_Missense_Mutation_p.D91E|MUSK_uc022blu.1_Missense_Mutation_p.D91E	NM_005592	NP_005583	O15146	MUSK_HUMAN	Homo sapiens muscle, skeletal, receptor tyrosine kinase (MUSK), transcript variant 1, mRNA.	91	Ig-like 1.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						GTGTGGAAGACAGTGATGATG	0.522000														115			19		0	0	0.000958	0	0
FLG2	388698	broad.mit.edu	37	1	152326064	152326064	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr1:152326064C>T	uc001ezw.4	-	2	4271	c.4198G>A	c.(4198-4200)Gga>Aga	p.G1400R	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	1400							calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGGCCATGTCCAGTGGCCTCT	0.507000														129			90		0	0	0.003610	0	0
FAM71F2	346653	broad.mit.edu	37	7	128315743	128315743	+	Silent	SNP	G	A	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr7:128315743G>A	uc003vnk.4	+	1	301	c.195G>A	c.(193-195)ggG>ggA	p.G65G	FAM71F2_uc010llm.1_Silent_p.G56G|FAM71F2_uc003vnl.3_Non-coding_Transcript|FAM71F2_uc010lln.2_Non-coding_Transcript	NM_001012454	NP_001012457	Q6NXP2	F71F2_HUMAN	Homo sapiens family with sequence similarity 71, member F2 (FAM71F2), transcript variant 1, mRNA.	65										NS(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(2)	7						CTAAGCCCGGGAACTGGAGAG	0.557000														29			7		0	0	0.004482	0	0
RFESD	317671	broad.mit.edu	37	5	94990055	94990055	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr5:94990055A>G	uc003klg.3	+	4	529	c.353A>G	c.(352-354)cAt>cGt	p.H118R	RFESD_uc011cun.2_Missense_Mutation_p.H118R|RFESD_uc003klf.3_Missense_Mutation_p.H65R|SPATA9_uc010jbh.1_Intron|SPATA9_uc003klh.1_Intron|SPATA9_uc003kli.1_Intron	NM_001131066	NP_775498	Q8TAC1	RFESD_HUMAN	Homo sapiens Rieske (Fe-S) domain containing (RFESD), transcript variant 3, mRNA.	65	Rieske 2.						2 iron, 2 sulfur cluster binding|metal ion binding|oxidoreductase activity			autonomic_ganglia(2)|endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1)	6		all_cancers(142;0.000215)|all_epithelial(76;7.43e-07)|all_lung(232;0.0318)|Lung NSC(167;0.041)|Ovarian(225;0.051)|Colorectal(57;0.162)		all cancers(79;5.94e-17)		GGACCTTTACATTTGGGAGAT	0.249000														79			22		0	0	0.003954	0	0
FGF9	2254	broad.mit.edu	37	13	22275367	22275367	+	Silent	SNP	C	T	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr13:22275367C>T	uc001uog.2	+	2	1257	c.420C>T	c.(418-420)ttC>ttT	p.F140F		NM_002010	NP_002001	P31371	FGF9_HUMAN	Homo sapiens fibroblast growth factor 9 (glia-activating factor) (FGF9), mRNA.	140					cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|male gonad development|positive regulation of cell division	extracellular space	growth factor activity|heparin binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|skin(2)	9		all_cancers(29;1.23e-20)|all_epithelial(30;9.83e-19)|all_lung(29;9.64e-17)|Lung SC(185;0.0262)|Breast(139;0.106)		all cancers(112;3.92e-05)|Epithelial(112;0.000166)|OV - Ovarian serous cystadenocarcinoma(117;0.00314)|Lung(94;0.163)		GAGAACAGTTCGAAGAAAACT	0.393000														24			7		0	0	0.004482	0	0
MET	4233	broad.mit.edu	37	7	116412001	116412001	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr7:116412001G>A	uc003vij.3	+	13	3173	c.2986G>A	c.(2986-2988)Gtt>Att	p.V996I	MET_uc010lkh.3_Missense_Mutation_p.V1014I|MET_uc011knj.2_Missense_Mutation_p.V566I	NM_000245	NP_000236	P08581	MET_HUMAN	Homo sapiens met proto-oncogene (hepatocyte growth factor receptor) (MET), transcript variant 2, mRNA.	996					axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding	p.982_1028del47(9)|p.L982_D1028del(6)|p.D981_D1028del(2)		NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			TACAGAAATGGTTTCAAATGA	0.408000			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)					50			11		0	0	0.001855	0	0
ITGB3	3690	broad.mit.edu	37	17	45384950	45384950	+	Nonsense_Mutation	SNP	C	T	T	rs121918450	byFrequency	TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr17:45384950C>T	uc002ilj.3	+	13	2268	c.2248C>T	c.(2248-2250)Cga>Tga	p.R750*	ITGB3_uc010wkr.1_Non-coding_Transcript	NM_000212	NP_000203	P05106	ITB3_HUMAN	Homo sapiens integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61) (ITGB3), mRNA.	750					activation of protein kinase activity|angiogenesis involved in wound healing|axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|platelet activation|platelet degranulation|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|regulation of bone resorption|smooth muscle cell migration|tube development	alphav-beta3 integrin-vitronectin complex|integrin complex|platelet alpha granule membrane	cell adhesion molecule binding|identical protein binding|platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	39					Abciximab(DB00054)|Tirofiban(DB00775)	CATCCACGACCGAAAAGAATT	0.532000														21			10		0	0	0.001368	0	0
DNAH10	196385	broad.mit.edu	37	12	124358152	124358152	+	Silent	SNP	C	T	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr12:124358152C>T	uc001uft.4	+	44	7504	c.7479C>T	c.(7477-7479)atC>atT	p.I2493I		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	2493	AAA 3 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CCATGGATATCCAAAGAAATT	0.463000														45			10		0	0	0.000443	0	0
IDI1	3422	broad.mit.edu	37	10	1087215	1087215	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr10:1087215A>G	uc001iga.3	-	4	885	c.767T>C	c.(766-768)aTt>aCt	p.I256T	IDI2-AS1_uc010qaf.1_Intron|IDI2-AS1_uc001ifx.3_Intron|IDI2-AS1_uc001ifw.3_Intron|IDI2-AS1_uc001ify.3_Intron|IDI1_uc001ifz.3_Missense_Mutation_p.I200T|IDI1_uc001igb.3_Non-coding_Transcript|IDI1_uc001igc.3_Missense_Mutation_p.I200T	NM_004508	NP_004499	Q13907	IDI1_HUMAN	Homo sapiens isopentenyl-diphosphate delta isomerase 1 (IDI1), mRNA.	199					carotenoid biosynthetic process|cholesterol biosynthetic process	cytosol|peroxisome	hydrolase activity|isopentenyl-diphosphate delta-isomerase activity|metal ion binding			large_intestine(3)|lung(2)|prostate(1)	6		all_epithelial(10;0.107)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.221)	Epithelial(11;0.0972)		CGCTGCAATAATTTTAAACCA	0.313000														30			27		0	0	0.003954	0	0
S100PBP	64766	broad.mit.edu	37	1	33291899	33291899	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr1:33291899C>T	uc001bvz.3	+	2	476	c.199C>T	c.(199-201)Cca>Tca	p.P67S	S100PBP_uc001bwa.1_Missense_Mutation_p.P67S|S100PBP_uc001bwb.1_Missense_Mutation_p.P67S|S100PBP_uc001bwc.3_Missense_Mutation_p.P67S|S100PBP_uc001bwd.3_Non-coding_Transcript	NM_022753	NP_073590	Q96BU1	S1PBP_HUMAN	Homo sapiens S100P binding protein (S100PBP), transcript variant 1, mRNA.	67						nucleus	calcium-dependent protein binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|stomach(1)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				GGAAGATGACCCATCATATGA	0.448000														63			13		0	0	0.002450	0	0
VPS13B	157680	broad.mit.edu	37	8	100654394	100654394	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr8:100654394T>C	uc003yiv.3	+	33	5762	c.5651T>C	c.(5650-5652)gTt>gCt	p.V1884A	VPS13B_uc003yiw.3_Missense_Mutation_p.V1859A	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog B (yeast) (VPS13B), transcript variant 5, mRNA.	1884					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			GATTCAGATGTTGCTAAGCCC	0.398000														104			102		0	0	0.003610	0	0
MYLK	4638	broad.mit.edu	37	3	123419379	123419379	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr3:123419379G>A	uc003ego.3	-	17	3218	c.2936C>T	c.(2935-2937)cCg>cTg	p.P979L	MYLK_uc011bjw.2_Missense_Mutation_p.P979L|MYLK_uc003egp.3_Missense_Mutation_p.P910L|MYLK_uc003egq.3_Missense_Mutation_p.P979L|MYLK_uc003egr.3_Missense_Mutation_p.P910L|MYLK_uc003egs.3_Missense_Mutation_p.P803L|MYLK_uc003egt.3_Missense_Mutation_p.P170L	NM_053025	NP_444253	Q15746	MYLK_HUMAN	Homo sapiens myosin light chain kinase (MYLK), transcript variant 1, mRNA.	979	5 X 28 AA approximate tandem repeats.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	ATP binding|actin binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			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)		GCGAAAATCCGGGGTGGCAGG	0.587000														48			16		0	0	0.000958	0	0
KCNA10	3744	broad.mit.edu	37	1	111060909	111060909	+	Silent	SNP	G	A	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr1:111060909G>A	uc001dzt.1	-	0	889	c.501C>T	c.(499-501)tcC>tcT	p.S167S		NM_005549	NP_005540	Q16322	KCA10_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 10 (KCNA10), mRNA.	167						voltage-gated potassium channel complex	intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity	p.I166I(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)		GCTCATAGAAGGAGATTTCAT	0.488000														40			20		0	0	0.001216	0	0
GLIS3	169792	broad.mit.edu	37	9	4286286	4286286	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr9:4286286G>A	uc003zhx.1	-	1	853	c.140C>T	c.(139-141)tCg>tTg	p.S47L	GLIS3_uc003zic.1_Missense_Mutation_p.S47L|GLIS3_uc003zie.1_Missense_Mutation_p.S47L|GLIS3_uc010mhh.1_Intron|GLIS3_uc003zid.1_5'UTR|GLIS3_uc010mhi.1_Intron|GLIS3_uc003zif.1_5'UTR|GLIS3_uc003zih.1_Intron|GLIS3_uc003zig.1_Intron|GLIS3_uc003zii.1_Missense_Mutation_p.S47L	NM_001042413	NP_001035878	Q8NEA6	GLIS3_HUMAN	Homo sapiens GLIS family zinc finger 3 (GLIS3), transcript variant 1, mRNA.	637	Ser-rich.				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		AGTGGGACTCGATGTGCTGCC	0.607000														20			4		0	0	0.000248	0	0
BET1L	51272	broad.mit.edu	37	11	205627	205627	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr11:205627C>T	uc001loe.2	-	2	253	c.152G>A	c.(151-153)cGg>cAg	p.R51Q	BET1L_uc001lod.2_Missense_Mutation_p.R51Q|RIC8A_uc001lof.3_5'Flank|RIC8A_uc001log.3_5'Flank	NM_001098787	NP_001092257	Q9NYM9	BET1L_HUMAN	Homo sapiens blocked early in transport 1 homolog (S. cerevisiae)-like (BET1L), transcript variant 1, mRNA.	51	t-SNARE coiled-coil homology.				protein transport|retrograde transport, endosome to Golgi	SNARE complex|endosome	SNAP receptor activity						all_cancers(49;1.58e-09)|all_epithelial(84;2.71e-06)|Breast(177;0.000162)|Ovarian(85;0.000626)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;4.2e-27)|Epithelial(43;2.8e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.7e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)		ATCCAGGTACCGGTTCTGATC	0.582000														37			8		0	0	0.003080	0	0
SMYD3	64754	broad.mit.edu	37	1	246498675	246498675	+	Silent	SNP	G	A	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr1:246498675G>A	uc001ibl.3	-	2	455	c.330C>T	c.(328-330)ttC>ttT	p.F110F	SMYD3_uc001ibk.3_Silent_p.F51F	NM_001167740	NP_073580	Q9H7B4	SMYD3_HUMAN	Homo sapiens SET and MYND domain containing 3 (SMYD3), transcript variant 1, mRNA.	110						cytoplasm|nucleus	histone-lysine N-methyltransferase activity|protein binding|zinc ion binding			breast(3)|large_intestine(5)|lung(8)|skin(1)	17	all_cancers(71;0.000291)|all_epithelial(71;0.000174)|Ovarian(71;0.0377)|all_lung(81;0.0568)|Lung NSC(105;0.0804)|Breast(184;0.173)|Melanoma(84;0.242)	all_cancers(173;0.0496)|Acute lymphoblastic leukemia(190;0.164)	OV - Ovarian serous cystadenocarcinoma(106;0.0129)	all cancers(4;0.028)|GBM - Glioblastoma multiforme(49;0.0537)		TCACAAGTTTGAAGACAACTC	0.413000														75			39		0	0	0.001706	0	0
SMARCAL1	50485	broad.mit.edu	37	2	217315672	217315672	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr2:217315672C>T	uc002vgc.4	+	11	2285	c.1955C>T	c.(1954-1956)tCc>tTc	p.S652F	SMARCAL1_uc002vgd.4_Missense_Mutation_p.S652F|SMARCAL1_uc010fvg.3_Missense_Mutation_p.S630F	NM_014140	NP_054859	Q9NZC9	SMAL1_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1 (SMARCAL1), transcript variant 1, mRNA.	652					DNA metabolic process|chromatin modification|regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1)	42		Renal(323;0.0458)		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)		GACGTCCTTTCCCAGCTGCCT	0.607000									Schimke Immuno-Osseous Dysplasia					45			13		0	0	0.001855	0	0
SEZ6L	23544	broad.mit.edu	37	22	26702049	26702049	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr22:26702049G>A	uc003acb.3	+	5	1649	c.1453G>A	c.(1453-1455)Gct>Act	p.A485T	SEZ6L_uc003acd.3_Missense_Mutation_p.A485T|SEZ6L_uc011akd.2_Missense_Mutation_p.A485T|SEZ6L_uc003ace.3_Missense_Mutation_p.A485T|SEZ6L_uc011akc.2_Missense_Mutation_p.A485T|SEZ6L_uc003acc.3_Missense_Mutation_p.A485T|SEZ6L_uc003acf.1_Missense_Mutation_p.A258T|SEZ6L_uc010gvc.1_Missense_Mutation_p.A258T	NM_021115	NP_066938	Q9BYH1	SE6L1_HUMAN	Homo sapiens seizure related 6 homolog (mouse)-like (SEZ6L), transcript variant 1, mRNA.	485	CUB 2.					endoplasmic reticulum membrane|integral to membrane		p.A485G(1)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						GACGATTGAAGCTCCAGAGGG	0.552000														49			5		0	0	0.001168	0	0
GALNT13	114805	broad.mit.edu	37	2	155099411	155099411	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr2:155099411G>A	uc002tyt.4	+	3	783	c.679G>A	c.(679-681)Gaa>Aaa	p.E227K	GALNT13_uc002tyr.4_Missense_Mutation_p.E227K|GALNT13_uc010foc.1_Missense_Mutation_p.E46K|GALNT13_uc010fod.3_5'Flank	NM_052917	NP_443149	Q8IUC8	GLT13_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13) (GALNT13), mRNA.	227						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						AAGAATAAAGGAAGACAGGTA	0.448000														17			6		0	0	0.003080	0	0
JHDM1D	80853	broad.mit.edu	37	7	139799824	139799824	+	Splice_Site	SNP	C	T	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr7:139799824C>T	uc003vvm.3	-	13	1643	c.1639_splice	c.e13-1	p.D547_splice	JHDM1D_uc010lng.3_Splice_Site	NM_030647	NP_085150	Q6ZMT4	KDM7_HUMAN	Homo sapiens jumonji C domain containing histone demethylase 1 homolog D (S. cerevisiae) (JHDM1D), mRNA.	547					midbrain development|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)	22	Melanoma(164;0.0142)					TCAAGATGTCCTGAAGGTATA	0.448000														40			21		0	0	0.003330	0	0
NCOA4	8031	broad.mit.edu	37	10	51584898	51584898	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr10:51584898C>T	uc001jis.4	+	7	1200	c.997C>T	c.(997-999)Cag>Tag	p.Q333*	PARG_uc001jih.3_Intron|TIMM23_uc010qha.2_Intron|TIMM23_uc001jin.3_Intron|TIMM23_uc010qhb.2_Intron|TIMM23_uc010qhc.2_Intron|NCOA4_uc009xon.3_Nonsense_Mutation_p.Q349*|NCOA4_uc010qhd.2_Nonsense_Mutation_p.Q349*|NCOA4_uc010qhe.2_Nonsense_Mutation_p.Q233*|NCOA4_uc010qhf.2_Nonsense_Mutation_p.Q167*|NCOA4_uc001jit.3_Nonsense_Mutation_p.Q333*|NCOA4_uc009xoo.3_Nonsense_Mutation_p.Q333*	NM_001145263	NP_005428	Q13772	NCOA4_HUMAN	Homo sapiens nuclear receptor coactivator 4 (NCOA4), transcript variant 4, mRNA.	333					androgen receptor signaling pathway|male gonad development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	androgen receptor binding|transcription coactivator activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|skin(1)	5						GCTCTTATTCCAGTCCTATAA	0.478000			T	RET	papillary thyroid									26			25		0	0	0.001061	0	0
HTR1E	3354	broad.mit.edu	37	6	87725312	87725312	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr6:87725312G>A	uc003pli.3	+	1	963	c.260G>A	c.(259-261)cGc>cAc	p.R87H	HTR1E_uc021zcg.1_Missense_Mutation_p.R87H	NM_000865	NP_000856	P28566	5HT1E_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 1E (HTR1E), mRNA.	87					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity	p.R87H(2)		breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Eletriptan(DB00216)	GTCATGGATCGCTGGAAGCTT	0.572000														53			23		0	0	0.004656	0	0
C11orf82	220042	broad.mit.edu	37	11	82643213	82643213	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr11:82643213C>T	uc001ozt.3	+	5	1077	c.833C>T	c.(832-834)tCc>tTc	p.S278F	C11orf82_uc010rsr.2_5'UTR|C11orf82_uc010rss.2_5'UTR|C11orf82_uc009yvd.2_Intron	NM_145018	NP_659455	Q8IXT1	NOXIN_HUMAN	Homo sapiens chromosome 11 open reading frame 82 (C11orf82), mRNA.	278					apoptosis|cell cycle arrest	cytoplasm|nucleus				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	33						AAGTCCATCTCCATTGCAGAG	0.408000														62			11		0	0	0.000673	0	0
ASXL3	80816	broad.mit.edu	37	18	31324184	31324184	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr18:31324184G>A	uc010dmg.1	+	11	4427	c.4372G>A	c.(4372-4374)Ggg>Agg	p.G1458R	ASXL3_uc002kxq.2_Missense_Mutation_p.G1165R	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA.	1458					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						GCAACCACCAGGGGGCTTTGC	0.493000											OREG0024911	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		98			35		0	0	0.001706	0	0
UGT3A1	133688	broad.mit.edu	37	5	35965875	35965875	+	Silent	SNP	G	A	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr5:35965875G>A	uc003jjv.2	-	3	649	c.456C>T	c.(454-456)ttC>ttT	p.F152F	UGT3A1_uc003jjw.2_Non-coding_Transcript|UGT3A1_uc011coq.2_Silent_p.F152F|UGT3A1_uc011cor.2_Silent_p.F118F|UGT3A1_uc003jjy.2_Silent_p.F98F	NM_152404	NP_689617	Q6NUS8	UD3A1_HUMAN	Homo sapiens UDP glycosyltransferase 3 family, polypeptide A1 (UGT3A1), transcript variant 1, mRNA.	152						integral to membrane	glucuronosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CAGCAATCAGGAAAGAACAGA	0.398000														38			18		0	0	0.001216	0	0
KIF1B	23095	broad.mit.edu	37	1	10399869	10399869	+	Silent	SNP	C	T	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr1:10399869C>T	uc001aqx.4	+	31	3667	c.3465C>T	c.(3463-3465)ctC>ctT	p.L1155L	KIF1B_uc001aqw.4_Silent_p.L1109L|KIF1B_uc001aqy.3_Silent_p.L1129L|KIF1B_uc001aqz.3_Silent_p.L1155L|KIF1B_uc001ara.3_Silent_p.L1115L|KIF1B_uc001arb.3_Silent_p.L1141L	NM_015074	NP_055889	O60333	KIF1B_HUMAN	Homo sapiens kinesin family member 1B (KIF1B), transcript variant 1, mRNA.	1155					anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		CGGAGCCCCTCAAAAACAATG	0.403000														28			9		0	0	0.000673	0	0
SS18L1	26039	broad.mit.edu	37	20	60733767	60733767	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr20:60733767G>A	uc011aaa.1	+	1	164	c.109G>A	c.(109-111)Gag>Aag	p.E37K	SS18L1_uc002ybz.1_Non-coding_Transcript|SS18L1_uc002yca.1_Non-coding_Transcript|SS18L1_uc002ycb.3_Missense_Mutation_p.E37K|SS18L1_uc002ycc.1_5'Flank	NM_198935	NP_945173	O75177	CREST_HUMAN	Homo sapiens synovial sarcoma translocation gene on chromosome 18-like 1 (SS18L1), mRNA.	37	N-terminal auto-inhibitory domain; necessary for interaction with SMARCA4/BRG1 (By similarity).				chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed chromosome kinetochore			SS18L1/SSX1(2)	ovary(2)|skin(1)	3	Breast(26;3.97e-09)		BRCA - Breast invasive adenocarcinoma(19;1.92e-08)			GTGCATCCTGGAGTACCAGAG	0.632000			T	SSX1	synovial sarcoma									35			13		0	0	0.001368	0	0
TTN	7273	broad.mit.edu	37	2	179636195	179636195	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr2:179636195C>T	uc021vsy.1	-	33	8084	c.7859G>A	c.(7858-7860)gGg>gAg	p.G2620E	TTN_uc021vsz.1_Missense_Mutation_p.G2574E|TTN_uc021vta.1_Missense_Mutation_p.G2574E|TTN_uc021vtb.1_Missense_Mutation_p.G2574E|TTN_uc002unb.2_Missense_Mutation_p.G2620E	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	2620	Ig-like 15.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R2620K(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGAGATGGCCCCACCTTTGGA	0.408000														68			15		0	0	0.000958	0	0
VPS33A	65082	broad.mit.edu	37	12	122720409	122720409	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr12:122720409G>A	uc001ucd.3	-	10	1477	c.1364C>T	c.(1363-1365)cCg>cTg	p.P455L	VPS33A_uc001ucc.3_Non-coding_Transcript	NM_022916	NP_075067	Q96AX1	VP33A_HUMAN	Homo sapiens vacuolar protein sorting 33 homolog A (S. cerevisiae) (VPS33A), mRNA.	455					lysosome localization|melanosome localization|platelet formation|protein transport|regulation of developmental pigmentation|vesicle docking involved in exocytosis	early endosome|late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm	protein binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	28	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23)		CCCCGTCTGCGGTTTCAGCAG	0.493000														139			76		0	0	0.003610	0	0
SLC6A11	6538	broad.mit.edu	37	3	10865069	10865069	+	Silent	SNP	G	A	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr3:10865069G>A	uc003bvz.3	+	3	649	c.615G>A	c.(613-615)gaG>gaA	p.E205E	SLC6A11_uc003bvy.1_Silent_p.E205E	NM_014229	NP_055044	P48066	S6A11_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, GABA), member 11 (SLC6A11), mRNA.	205					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35				OV - Ovarian serous cystadenocarcinoma(96;0.229)		CTGTCATGGAGTTTTGGGAGT	0.507000														19			17		0	0	0.004990	0	0
MUC16	94025	broad.mit.edu	37	19	9006662	9006662	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr19:9006662C>T	uc002mkp.3	-	43	39790	c.39586G>A	c.(39586-39588)Gag>Aag	p.E13196K	MUC16_uc010dwi.3_Non-coding_Transcript|MUC16_uc010dwj.3_Missense_Mutation_p.E13K|MUC16_uc021uog.1_Intron	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	13198	SEA 8.				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						AGAACACTCTCCGTGATGTTG	0.527000														125			25		0	0	0.004656	0	0
ARMC12	221481	broad.mit.edu	37	6	35705030	35705030	+	Missense_Mutation	SNP	T	G	G			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr6:35705030T>G	uc003ola.3	+	0	172	c.145T>G	c.(145-147)Tca>Gca	p.S49A	FKBP5_uc010jvy.2_5'Flank|ARMC12_uc003olb.1_Missense_Mutation_p.S49A	NM_145028	NP_659465	Q5T9G4	CF081_HUMAN	Homo sapiens armadillo repeat containing 12 (ARMC12), mRNA.	49							binding										CTGTAGCAACTCACCCATCTG	0.637000											OREG0017379	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		21			7		0	0	0.004482	0	0
CNTN3	5067	broad.mit.edu	37	3	74347205	74347205	+	Silent	SNP	G	A	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr3:74347205G>A	uc003dpm.1	-	16	2384	c.2304C>T	c.(2302-2304)atC>atT	p.I768I		NM_020872	NP_065923	Q9P232	CNTN3_HUMAN	Homo sapiens contactin 3 (plasmacytoma associated) (CNTN3), mRNA.	768	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)		AATATGGCACGATGCTTTCAT	0.453000														36			22		0	0	0.003330	0	0
KCNJ5	3762	broad.mit.edu	37	11	128781415	128781415	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr11:128781415G>A	uc001qet.3	+	1	561	c.247G>A	c.(247-249)Gac>Aac	p.D83N	KCNJ5_uc009zck.3_Missense_Mutation_p.D83N|KCNJ5_uc001qew.3_Missense_Mutation_p.D83N	NM_000890	NP_000881	P48544	IRK5_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 5 (KCNJ5), mRNA.	83					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	Glibenclamide(DB01016)	CACCCTGGTGGACCTCAAGTG	0.557000														63			18		0	0	0.000958	0	0
PMEPA1	56937	broad.mit.edu	37	20	56227293	56227293	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr20:56227293C>T	uc002xyq.3	-	3	1073	c.680G>A	c.(679-681)gGg>gAg	p.G227E	PMEPA1_uc002xyr.3_Missense_Mutation_p.G177E|PMEPA1_uc002xys.3_Missense_Mutation_p.G192E|PMEPA1_uc002xyt.3_Missense_Mutation_p.G177E	NM_020182	NP_954640	Q969W9	PMEPA_HUMAN	Homo sapiens prostate transmembrane protein, androgen induced 1 (PMEPA1), transcript variant 1, mRNA.	227					androgen receptor signaling pathway	integral to membrane|plasma membrane	WW domain binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)	16						GGGCGGCGGCCCCTCCATGCG	0.711000														7			3		0	0	0.004672	0	0
ENPP3	5169	broad.mit.edu	37	6	131973708	131973708	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr6:131973708C>T	uc003qcu.4	+	4	651	c.304C>T	c.(304-306)Cgt>Tgt	p.R102C	ENPP3_uc010kfn.1_Non-coding_Transcript|ENPP3_uc011ecc.1_Missense_Mutation_p.R68C|ENPP3_uc010kfo.1_Non-coding_Transcript|ENPP3_uc010kfp.1_Non-coding_Transcript|ENPP3_uc003qcv.3_Missense_Mutation_p.R102C|ENPP3_uc010kfq.3_Non-coding_Transcript	NM_005021	NP_005012	O14638	ENPP3_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 3 (ENPP3), mRNA.	102	SMB 2.				immune response|nucleoside triphosphate catabolic process|phosphate metabolic process	extracellular region|integral to plasma membrane|perinuclear region of cytoplasm	metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity	p.R102C(2)		NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		CAATAAATTTCGTTGTGGAGA	0.378000														43			10		0	0	0.001855	0	0
FSTL5	56884	broad.mit.edu	37	4	162376250	162376250	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr4:162376250G>A	uc003iqh.3	-	14	2183	c.1747C>T	c.(1747-1749)Cac>Tac	p.H583Y	FSTL5_uc003iqi.3_Missense_Mutation_p.H582Y|FSTL5_uc010iqv.3_Missense_Mutation_p.H573Y	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN	Homo sapiens follistatin-like 5 (FSTL5), transcript variant 1, mRNA.	583						extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		ATCGTGTGGTGAGGCACATTC	0.418000														21			18		0	0	0.006122	0	0
MBD6	114785	broad.mit.edu	37	12	57919821	57919821	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr12:57919821C>T	uc001soj.1	+	5	1294	c.1070C>T	c.(1069-1071)tCa>tTa	p.S357L	MBD6_uc001sok.1_Missense_Mutation_p.S224L|MBD6_uc001sol.1_5'Flank	NM_052897	NP_443129	Q96DN6	MBD6_HUMAN	Homo sapiens methyl-CpG binding domain protein 6 (MBD6), mRNA.	357	Pro-rich.					chromosome|nucleus	DNA binding|chromatin binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						TCCCACTCCTCATCACTTCGT	0.637000														41			16		0	0	0.004007	0	0
LCE1F	353137	broad.mit.edu	37	1	152748928	152748928	+	Silent	SNP	G	A	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr1:152748928G>A	uc010pdv.2	+	0	81	c.81G>A	c.(79-81)ccG>ccA	p.P27P		NM_178354	NP_848131	Q5T754	LCE1F_HUMAN	Homo sapiens late cornified envelope 1F (LCE1F), mRNA.	27	Pro-rich.				keratinization					kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			gccccacaccgaagtgccccc	0.657000														35			16		0	0	0.004990	0	0
TMEM184B	25829	broad.mit.edu	37	22	38620791	38620791	+	Splice_Site	SNP	C	T	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr22:38620791C>T	uc003avf.1	-	8	1206	c.982_splice	c.e8+1	p.G328_splice	TMEM184B_uc003avh.2_Splice_Site_p.G262_splice|TMEM184B_uc003avg.2_Splice_Site_p.G328_splice|TMEM184B_uc021wpo.1_5'Flank	NM_001195071	NP_001182001	Q9Y519	T184B_HUMAN	Homo sapiens transmembrane protein 184B (TMEM184B), transcript variant 2, mRNA.	328						integral to membrane				endometrium(1)|large_intestine(2)|lung(2)|skin(2)|upper_aerodigestive_tract(1)	8	Melanoma(58;0.045)					CTGGCTCATACCTTGTGCGTC	0.612000														38			8		0	0	0.004482	0	0
ZNF236	7776	broad.mit.edu	37	18	74611016	74611016	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr18:74611016C>T	uc002lmi.3	+	10	1924	c.1726C>T	c.(1726-1728)Cga>Tga	p.R576*	ZNF236_uc002lmj.3_Non-coding_Transcript	NM_007345	NP_031371	Q9UL36	ZN236_HUMAN	Homo sapiens zinc finger protein 236 (ZNF236), mRNA.	576					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R576*(3)		NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		CAAAAAATTTCGAACCTCAGG	0.383000														74			20		0	0	0.002780	0	0
NEB	4703	broad.mit.edu	37	2	152471030	152471030	+	Silent	SNP	C	T	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr2:152471030C>T	uc021vrb.1	-	71	10661	c.10632G>A	c.(10630-10632)ccG>ccA	p.P3544P	NEB_uc002txu.3_Silent_p.P3787P|NEB_uc021vrc.1_Silent_p.P3787P|NEB_uc010fnx.3_Silent_p.P3532P|NEB_uc021vrd.1_Silent_p.P3544P	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	3544					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle	p.P3544P(2)		NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		ACATCATCTTCGGGTCATCCT	0.468000														161			62		0	0	0.003610	0	0
ZSWIM2	151112	broad.mit.edu	37	2	187693133	187693133	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr2:187693133G>A	uc002upu.1	-	8	1520	c.1480C>T	c.(1480-1482)Ccc>Tcc	p.P494S		NM_182521	NP_872327	Q8NEG5	ZSWM2_HUMAN	Homo sapiens zinc finger, SWIM-type containing 2 (ZSWIM2), mRNA.	494					apoptosis		zinc ion binding			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)			AGATACCTGGGAAAATGTTGG	0.318000														24			14		0	0	0.004007	0	0
ADRB2	154	broad.mit.edu	37	5	148207177	148207177	+	Silent	SNP	T	C	C			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr5:148207177T>C	uc003lpr.2	+	0	1022	c.783T>C	c.(781-783)tcT>tcC	p.S261S	SH3TC2_uc003lpp.1_Intron	NM_000024	NP_000015	P07550	ADRB2_HUMAN	Homo sapiens adrenergic, beta-2-, receptor, surface (ADRB2), mRNA.	261				S -> P (in Ref. 10; BAD96745).	activation of transmembrane receptor protein tyrosine kinase activity|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|endosome to lysosome transport|positive regulation of MAPKKK cascade|receptor-mediated endocytosis	endosome|integral to plasma membrane|lysosome|receptor complex	beta2-adrenergic receptor activity|norepinephrine binding|potassium channel regulator activity|protein homodimerization activity			endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(3)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Alprenolol(DB00866)|Arformoterol(DB01274)|Bambuterol(DB01408)|Bisoprolol(DB00612)|Bitolterol(DB00901)|Bretylium(DB01158)|Carteolol(DB00521)|Carvedilol(DB01136)|Clenbuterol(DB01407)|Desipramine(DB01151)|Epinephrine(DB00668)|Fenoterol(DB01288)|Formoterol(DB00983)|Isoproterenol(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Metipranolol(DB01214)|Nadolol(DB01203)|Norepinephrine(DB00368)|Orciprenaline(DB00816)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Pindolol(DB00960)|Pirbuterol(DB01291)|Procaterol(DB01366)|Propranolol(DB00571)|Pseudoephedrine(DB00852)|Ritodrine(DB00867)|Salbutamol(DB01001)|Salmeterol(DB00938)|Terbutaline(DB00871)|Timolol(DB00373)	TCCGCAGATCTTCCAAGTTCT	0.547000														50			13		0	0	0.002450	0	0
PTPRT	11122	broad.mit.edu	37	20	41419967	41419967	+	Silent	SNP	C	T	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr20:41419967C>T	uc002xkg.3	-	2	538	c.354G>A	c.(352-354)ggG>ggA	p.G118G	PTPRT_uc010ggj.3_Silent_p.G118G	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	118	MAM.				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)				CGTTCAAGGCCCCTGGGCTGG	0.597000														53			15		0	0	0.002450	0	0
F11R	50848	broad.mit.edu	37	1	160970879	160970879	+	Missense_Mutation	SNP	G	A	A	rs149683377		TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr1:160970879G>A	uc009wtt.3	-	2	442	c.172C>T	c.(172-174)Ccc>Tcc	p.P58S	F11R_uc010pjv.2_Missense_Mutation_p.P58S|F11R_uc010pjw.2_Missense_Mutation_p.P62S|F11R_uc001fxf.4_Missense_Mutation_p.P58S	NM_016946	NP_058642	Q9Y624	JAM1_HUMAN	Homo sapiens F11 receptor (F11R), mRNA.	58	Ig-like V-type 1.				blood coagulation|inflammatory response|interspecies interaction between organisms|leukocyte migration|tight junction assembly	integral to membrane|tight junction				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)	12	all_cancers(52;6.73e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00207)			TCCACACGGGGAGAAGAAAAG	0.502000														33			12		0	0	0.003163	0	0
DLG3	1741	broad.mit.edu	37	X	69719869	69719869	+	Silent	SNP	C	T	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chrX:69719869C>T	uc004dyi.2	+	15	2462	c.2115C>T	c.(2113-2115)agC>agT	p.S705S	DLG3_uc004dyj.2_Silent_p.S400S|DLG3_uc011mpn.2_Silent_p.S254S	NM_021120	NP_066943	Q92796	DLG3_HUMAN	Homo sapiens discs, large homolog 3 (Drosophila) (DLG3), transcript variant 1, mRNA.	705	Guanylate kinase-like.				axon guidance|negative regulation of cell proliferation|synaptic transmission	plasma membrane	guanylate kinase activity			endometrium(4)|kidney(1)|large_intestine(10)|lung(5)|pancreas(1)|urinary_tract(1)	22	Renal(35;0.156)					ATGGGACCAGCATCCAGTCAG	0.493000														48			7		0	0	0.003080	0	0
ADH1B	125	broad.mit.edu	37	4	100242475	100242475	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr4:100242475C>T	uc003hus.4	-	0	98	c.14G>A	c.(13-15)gGa>gAa	p.G5E	ADH1B_uc003hut.4_5'UTR|ADH1B_uc011ceh.2_5'UTR|ADH1B_uc011cei.1_5'UTR	NM_000668	NP_000659	P00325	ADH1B_HUMAN	Homo sapiens alcohol dehydrogenase 1B (class I), beta polypeptide (ADH1B), mRNA.	5					ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Fomepizole(DB01213)|NADH(DB00157)	GCTTACTTTTCCTGCTGTGCT	0.333000														41			11		0	0	0.001855	0	0
FLNC	2318	broad.mit.edu	37	7	128485004	128485004	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr7:128485004G>A	uc003vnz.4	+	20	3694	c.3485G>A	c.(3484-3486)gGa>gAa	p.G1162E	FLNC_uc003voa.4_Missense_Mutation_p.G1162E	NM_001458	NP_001449	Q14315	FLNC_HUMAN	Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA.	1162					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						CGGGCCAGTGGACCGGGCCTG	0.622000														43			16		0	0	0.004007	0	0
LRRC27	80313	broad.mit.edu	37	10	134161692	134161692	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr10:134161692G>A	uc010quw.1	+	5	953	c.758G>A	c.(757-759)tGg>tAg	p.W253*	LRRC27_uc001llf.2_Nonsense_Mutation_p.W253*|LRRC27_uc010quv.1_Nonsense_Mutation_p.W253*|LRRC27_uc001llg.2_Non-coding_Transcript|LRRC27_uc001lli.2_Nonsense_Mutation_p.W253*|LRRC27_uc001llj.2_Nonsense_Mutation_p.W191*|LRRC27_uc001llk.4_Nonsense_Mutation_p.W126*	NM_030626	NP_085129	Q9C0I9	LRC27_HUMAN	Homo sapiens leucine rich repeat containing 27 (LRRC27), transcript variant 1, mRNA.	253										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	18		all_cancers(35;6.28e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;9.12e-05)|Epithelial(32;0.000116)|all cancers(32;0.000145)|BRCA - Breast invasive adenocarcinoma(275;0.218)		TCAGAGAACTGGCCCAGCGAG	0.562000														28			13		0	0	0.003163	0	0
MSANTD1	345222	broad.mit.edu	37	4	3255173	3255173	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr4:3255173C>T	uc003ggs.3	+	1	743	c.560C>T	c.(559-561)tCc>tTc	p.S187F		NM_001042690	NP_001036155	Q6ZTZ1	CD044_HUMAN	Homo sapiens chromosome 4 open reading frame 44 (C4orf44), mRNA.	187										endometrium(1)|lung(2)	3						GATGATCGCTCCGACAGCTCC	0.587000														71			29		0	0	0.001786	0	0
TTN	7273	broad.mit.edu	37	2	179498794	179498794	+	Silent	SNP	G	A	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr2:179498794G>A	uc021vsy.1	-	179	34953	c.34728C>T	c.(34726-34728)ttC>ttT	p.F11576F	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Silent_p.F5271F|TTN_uc021vta.1_Silent_p.F5204F|TTN_uc021vtb.1_Silent_p.F5079F	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	12503	Glu-rich.|Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GAGGTGACATGAATTTCAGTC	0.358000														59			19		0	0	0.006122	0	0
EDEM2	55741	broad.mit.edu	37	20	33722705	33722705	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr20:33722705G>A	uc002xbo.2	-	5	638	c.538C>T	c.(538-540)Cat>Tat	p.H180Y	EDEM2_uc010zuv.1_Missense_Mutation_p.H139Y|EDEM2_uc010zus.1_5'UTR|EDEM2_uc002xbq.2_Missense_Mutation_p.H143Y|EDEM2_uc010zut.1_Missense_Mutation_p.H139Y|EDEM2_uc002xbn.2_Missense_Mutation_p.H28Y|EDEM2_uc010zuu.1_Intron	NM_018217	NP_060687	Q9BV94	EDEM2_HUMAN	Homo sapiens ER degradation enhancer, mannosidase alpha-like 2 (EDEM2), transcript variant 1, mRNA.	180					post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	22			BRCA - Breast invasive adenocarcinoma(18;0.00936)			TTCACGCCATGAAGTAAGTTC	0.537000														53			15		0	0	0.004990	0	0
ANK1	286	broad.mit.edu	37	8	41552695	41552695	+	Splice_Site	SNP	C	T	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr8:41552695C>T	uc003xok.3	-	27	3199	c.3115_splice	c.e27+1	p.E1039_splice	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.3_Splice_Site_p.E355_splice|ANK1_uc003xoi.3_Splice_Site_p.E1039_splice|ANK1_uc003xoj.3_Splice_Site_p.E1039_splice|ANK1_uc003xol.3_Splice_Site_p.E1039_splice|ANK1_uc003xom.3_Splice_Site_p.E1080_splice	NM_020476	NP_065209	P16157	ANK1_HUMAN	Homo sapiens ankyrin 1, erythrocytic (ANK1), transcript variant 1, mRNA.	1039					axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			CCGCCCCTACCTTCGTCCATC	0.592000														193			46		0	0	0.003610	0	0
COL14A1	7373	broad.mit.edu	37	8	121259933	121259933	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr8:121259933C>T	uc003yox.3	+	20	2826	c.2561C>T	c.(2560-2562)tCc>tTc	p.S854F	COL14A1_uc003yoy.3_Missense_Mutation_p.S532F	NM_021110	NP_066933	Q05707	COEA1_HUMAN	Homo sapiens collagen, type XIV, alpha 1 (COL14A1), mRNA.	854	Fibronectin type-III 7.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			CCCCCATCTTCCCCGGTGAAA	0.453000														109			20		0	0	0.002299	0	0
STMN4	81551	broad.mit.edu	37	8	27098744	27098744	+	Missense_Mutation	SNP	C	A	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr8:27098744C>A	uc011lak.2	-	4	340	c.226G>T	c.(226-228)Gac>Tac	p.D76Y	STMN4_uc003xfj.3_Missense_Mutation_p.D76Y|STMN4_uc011lai.2_Missense_Mutation_p.D76Y|STMN4_uc011laj.2_Missense_Mutation_p.D40Y|STMN4_uc003xfk.3_Missense_Mutation_p.D49Y|STMN4_uc010luo.3_Missense_Mutation_p.D49Y	NM_030795	NP_110422	Q9H169	STMN4_HUMAN	Homo sapiens stathmin-like 4 (STMN4), mRNA.	49					intracellular signal transduction					endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)	11		Ovarian(32;0.00167)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0214)|Epithelial(17;9.82e-10)|Colorectal(74;0.142)		ACTTCCATGTCGGAAATGACG	0.557000														52			13		0.000219431	0.000460196	0.002450	1	0
GRM8	2918	broad.mit.edu	37	7	126544699	126544699	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr7:126544699C>T	uc003vlr.2	-	2	1077	c.766G>A	c.(766-768)Gaa>Aaa	p.E256K	GRM8_uc003vls.2_Non-coding_Transcript|GRM8_uc011kof.1_Non-coding_Transcript|GRM8_uc003vlt.2_Missense_Mutation_p.E256K|GRM8_uc010lkz.1_Non-coding_Transcript|GRM8_uc003vlu.1_5'UTR	NM_000845	NP_000836	O00222	GRM8_HUMAN	Homo sapiens glutamate receptor, metabotropic 8 (GRM8), transcript variant 1, mRNA.	256					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		p.R255R(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	GGTCTTGGTTCACGTGGGATT	0.398000										HNSCC(24;0.065)				73			41		0	0	0.001287	0	0
MLXIPL	51085	broad.mit.edu	37	7	73008693	73008693	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr7:73008693C>T	uc003tyn.1	-	15	2399	c.2351G>A	c.(2350-2352)gGg>gAg	p.G784E	MLXIPL_uc003tyj.1_Missense_Mutation_p.G163E|MLXIPL_uc003tyk.1_Missense_Mutation_p.G763E|MLXIPL_uc003tym.1_Missense_Mutation_p.G765E|MLXIPL_uc003tyl.1_Missense_Mutation_p.G782E|MLXIPL_uc003tyo.1_Non-coding_Transcript|MLXIPL_uc003typ.1_Missense_Mutation_p.G690E	NM_032951	NP_116569	Q9NP71	WBS14_HUMAN	Homo sapiens MLX interacting protein-like (MLXIPL), transcript variant 1, mRNA.	784					anatomical structure morphogenesis|energy reserve metabolic process|glucose mediated signaling pathway|intracellular protein kinase cascade|negative regulation of cell cycle arrest|negative regulation of oxidative phosphorylation|negative regulation of peptidyl-serine phosphorylation|positive regulation of cell proliferation|positive regulation of fatty acid biosynthetic process|positive regulation of glycolysis|positive regulation of transcription from RNA polymerase II promoter|triglyceride homeostasis	cytosol|transcription factor complex	carbohydrate response element binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding	p.G784R(1)		cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13		Lung NSC(55;0.0659)|all_lung(88;0.152)				GGACACCATCCCGTTGAAGGA	0.642000														44			22		0	0	0.002299	0	0
OR5H15	403274	broad.mit.edu	37	3	97888274	97888274	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr3:97888274A>G	uc011bgu.2	+	0	731	c.731A>G	c.(730-732)cAt>cGt	p.H244R		NM_001005515	NP_001005515	A6NDH6	O5H15_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily H, member 15 (OR5H15), mRNA.	244					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1)	35						TGTGGAGCCCATCTCTTCTCT	0.423000														73			14		0	0	0.004990	0	0
HRC	3270	broad.mit.edu	37	19	49657463	49657463	+	Silent	SNP	C	T	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr19:49657463C>T	uc002pmv.3	-	0	1219	c.1032G>A	c.(1030-1032)agG>agA	p.R344R		NM_002152	NP_002143	P23327	SRCH_HUMAN	Homo sapiens histidine rich calcium binding protein (HRC), mRNA.	344	4 X tandem repeats, acidic.				muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		GGCCTTGGTGCCTGTGGTCAG	0.557000														45			20		0	0	0.001216	0	0
CLEC2B	9976	broad.mit.edu	37	12	10007020	10007020	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr12:10007020G>A	uc001qwn.3	-	3	958	c.301C>T	c.(301-303)Cga>Tga	p.R101*		NM_005127	NP_005118	Q92478	CLC2B_HUMAN	Homo sapiens C-type lectin domain family 2, member B (CLEC2B), mRNA.	101	C-type lectin.					integral to plasma membrane	sugar binding			endometrium(1)|large_intestine(3)|lung(1)	5						TGTCCTGTTCGATTTTTTGCC	0.358000														71			27		0	0	0.002096	0	0
SPINLW1-WFDC6	100526773	broad.mit.edu	37	20	44171498	44171498	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr20:44171498C>T	uc010zxc.2	-	2	301	c.232G>A	c.(232-234)Gaa>Aaa	p.E78K	SPINLW1-WFDC6_uc002xou.3_Missense_Mutation_p.E78K|SPINLW1-WFDC6_uc002xov.2_3'UTR	NM_001198986	NP_001185915	A6PVD6	A6PVD6_HUMAN	Homo sapiens SPINLW1-WFDC6 readthrough (SPINLW1-WFDC6), mRNA.	78						extracellular region	serine-type endopeptidase inhibitor activity	p.E62K(2)									TTTGGCATTTCGCATACATCT	0.428000														52			10		0	0	0.000978	0	0
PTAFR	5724	broad.mit.edu	37	1	28477168	28477168	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr1:28477168G>A	uc009vte.3	-	2	700	c.365C>T	c.(364-366)cCc>cTc	p.P122L	PTAFR_uc021ojz.1_Missense_Mutation_p.P122L|PTAFR_uc001bpl.3_Missense_Mutation_p.P122L|PTAFR_uc001bpm.4_Missense_Mutation_p.P122L|PTAFR_uc021oka.1_Missense_Mutation_p.P122L	NM_001164721	NP_001158195	P25105	PTAFR_HUMAN	Homo sapiens platelet-activating factor receptor (PTAFR), transcript variant 1, mRNA.	122					chemotaxis|inflammatory response|interferon-gamma-mediated signaling pathway|phosphatidylinositol-mediated signaling	integral to plasma membrane|nucleus	phospholipid binding|platelet activating factor receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|stomach(1)	15		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00715)|all_lung(284;0.00732)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)		UCEC - Uterine corpus endometrioid carcinoma (279;0.215)|OV - Ovarian serous cystadenocarcinoma(117;6e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|STAD - Stomach adenocarcinoma(196;0.00678)|READ - Rectum adenocarcinoma(331;0.0649)		AGTCTTGATGGGCCGAGTTAC	0.557000														78			23		0	0	0.002299	0	0
DNAJC28	54943	broad.mit.edu	37	21	34861163	34861163	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr21:34861163G>A	uc021wim.1	-	0	538	c.538C>T	c.(538-540)Cct>Tct	p.P180S	DNAJC28_uc002yrv.3_Missense_Mutation_p.P180S|DNAJC28_uc002yrw.3_Missense_Mutation_p.P180S	NM_017833	NP_060303	Q9NX36	DJC28_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 28 (DNAJC28), transcript variant 1, mRNA.	180							heat shock protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(5)|skin(1)|urinary_tract(1)	18						ACACTATCAGGAAAATACTGG	0.393000														95			17		0	0	0.000958	0	0
EHD1	10938	broad.mit.edu	37	11	64622932	64622932	+	Silent	SNP	G	A	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr11:64622932G>A	uc010rnq.1	-	4	1031	c.984C>T	c.(982-984)ctC>ctT	p.L328L	EHD1_uc021qkz.1_5'UTR|EHD1_uc001obu.1_Silent_p.L314L|EHD1_uc001obv.1_Silent_p.L314L	NM_006795	NP_006786	Q9H4M9	EHD1_HUMAN	Homo sapiens EH-domain containing 1 (EHD1), mRNA.	314					blood coagulation|cholesterol homeostasis|endocytic recycling|intracellular protein transport|low-density lipoprotein particle clearance|positive regulation of cholesterol storage|protein homooligomerization	early endosome membrane|lipid particle|plasma membrane|platelet dense tubular network membrane|recycling endosome membrane	ATP binding|GTP binding|GTPase activity|calcium ion binding|protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	12						TCTCTTTCTTGAGGGAGCTGA	0.547000											OREG0004024	type=REGULATORY REGION|Gene=EHD1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay		117			19		0	0	0.002299	0	0
TCP10L2	401285	broad.mit.edu	37	6	167592605	167592605	+	Missense_Mutation	SNP	T	G	G			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr6:167592605T>G	uc010kkp.3	+	5	895	c.764T>G	c.(763-765)gTt>gGt	p.V255G		NM_001145121	NP_001138593	B9ZVM9	B9ZVM9_HUMAN	Homo sapiens t-complex 10-like 2 (mouse) (TCP10L2), mRNA.	255										endometrium(1)|kidney(2)|lung(3)	6						GCAGCCGGAGTTGCTGGTGAG	0.582000														12			3		0	0	0.000248	0	0
LHFPL4	375323	broad.mit.edu	37	3	9547826	9547826	+	Silent	SNP	C	T	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr3:9547826C>T	uc003bry.3	-	2	754	c.468G>A	c.(466-468)cgG>cgA	p.R156R		NM_198560	NP_940962	Q7Z7J7	LHPL4_HUMAN	Homo sapiens lipoma HMGIC fusion partner-like 4 (LHFPL4), mRNA.	156						integral to membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(3)|skin(1)	10	Medulloblastoma(99;0.227)					CACACATGTCCCGGATGGTCT	0.632000														29			20		0	0	0.001523	0	0
TMEM132B	114795	broad.mit.edu	37	12	125834239	125834239	+	Silent	SNP	C	T	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr12:125834239C>T	uc001uhe.1	+	1	302	c.294C>T	c.(292-294)ccC>ccT	p.P98P	TMEM132B_uc021rgl.1_5'UTR	NM_052907	NP_443139	Q14DG7	T132B_HUMAN	Homo sapiens transmembrane protein 132B (TMEM132B), mRNA.	98						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		AGATAATCCCCCAGGAGCTCC	0.498000														98			32		0	0	0.002836	0	0
DLGAP2	9228	broad.mit.edu	37	8	1624770	1624770	+	Silent	SNP	G	A	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr8:1624770G>A	uc003wpl.3	+	7	2131	c.2034G>A	c.(2032-2034)gtG>gtA	p.V678V	DLGAP2_uc003wpm.3_Silent_p.V664V	NM_004745	NP_004736	Q9P1A6	DLGP2_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 2 (DLGAP2), mRNA.	757					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding			breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		GGGTGCAAGTGGAAGATGAGA	0.567000														9			3		0	0	0.000248	0	0
CPO	130749	broad.mit.edu	37	2	207814428	207814428	+	Silent	SNP	C	T	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr2:207814428C>T	uc002vby.2	+	1	202	c.156C>T	c.(154-156)ccC>ccT	p.P52P		NM_173077	NP_775100	Q8IVL8	CBPO_HUMAN	Homo sapiens carboxypeptidase O (CPO), mRNA.	52					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14				LUSC - Lung squamous cell carcinoma(261;0.0744)|Epithelial(149;0.0807)|Lung(261;0.142)		TATACCACCCCATGGGAGAGG	0.468000														37			18		0	0	0.000958	0	0
CSMD1	64478	broad.mit.edu	37	8	2830723	2830723	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr8:2830723C>T	uc022aqr.1	-	56	9229	c.8839G>A	c.(8839-8841)Gaa>Aaa	p.E2947K	CSMD1_uc011kwj.2_Missense_Mutation_p.E2277K|CSMD1_uc010lrg.3_Missense_Mutation_p.E958K	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	2948	Sushi 22.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TGCCCCATTTCACAGGAGAAG	0.557000														80			34		0	0	0.002836	0	0
IPPK	64768	broad.mit.edu	37	9	95400563	95400563	+	Splice_Site	SNP	C	G	G			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr9:95400563C>G	uc004asl.1	-	9	914	c.637_splice	c.e9-1	p.N213_splice	IPPK_uc004ask.1_5'Flank	NM_022755	NP_073592	Q9H8X2	IPPK_HUMAN	Homo sapiens inositol 1,3,4,5,6-pentakisphosphate 2-kinase (IPPK), mRNA.	213					inositol or phosphatidylinositol phosphorylation	cytoplasm|nucleus	ATP binding|inositol pentakisphosphate 2-kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(2)|urinary_tract(1)	15						GCTCACCATTCTTCAGACAGG	0.552000														32			22		0	0	0.003330	0	0
RPTN	126638	broad.mit.edu	37	1	152128515	152128515	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr1:152128515G>A	uc001ezs.1	-	2	1125	c.1060C>T	c.(1060-1062)Cat>Tat	p.H354Y		NM_001122965	NP_001116437	Q6XPR3	RPTN_HUMAN	Homo sapiens repetin (RPTN), mRNA.	354	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						TGATCATAATGATAACACTGG	0.488000														435			241		0	0	0.003610	0	0
JPH3	57338	broad.mit.edu	37	16	87678374	87678374	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr16:87678374C>T	uc002fkd.3	+	1	1147	c.893C>T	c.(892-894)tCc>tTc	p.S298F	JPH3_uc010vou.1_Non-coding_Transcript	NM_020655	NP_065706	Q8WXH2	JPH3_HUMAN	Homo sapiens junctophilin 3 (JPH3), mRNA.	298					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane	protein binding	p.R297C(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(80;0.0287)		GACAAACGCTCCGGCTTCGGC	0.682000														24			5		0	0	0.001168	0	0
PTPRT	11122	broad.mit.edu	37	20	40944418	40944418	+	Missense_Mutation	SNP	A	C	C			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr20:40944418A>C	uc002xkg.3	-	11	2268	c.2084T>G	c.(2083-2085)cTc>cGc	p.L695R	PTPRT_uc010ggj.3_Missense_Mutation_p.L695R	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	695	Fibronectin type-III 4.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	p.L695L(1)		NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				CAGGGGAGAGAGAGGAGGGTT	0.498000														82			9		0	0	0.000443	0	0
OSBPL3	26031	broad.mit.edu	37	7	24932067	24932067	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr7:24932067C>T	uc003sxf.3	-	1	430	c.25G>A	c.(25-27)Ggt>Agt	p.G9S	OSBPL3_uc003sxd.3_Non-coding_Transcript|OSBPL3_uc003sxe.3_Non-coding_Transcript|OSBPL3_uc003sxg.3_Missense_Mutation_p.G9S|OSBPL3_uc003sxh.3_Missense_Mutation_p.G9S|OSBPL3_uc003sxi.3_Missense_Mutation_p.G9S	NM_015550	NP_056365	Q9H4L5	OSBL3_HUMAN	Homo sapiens oxysterol binding protein-like 3 (OSBPL3), transcript variant 1, mRNA.	9					lipid transport		lipid binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						TGGGACACACCAAGGTTCTTC	0.448000														53			20		0	0	0.001216	0	0
ITGA8	8516	broad.mit.edu	37	10	15573141	15573141	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr10:15573141C>T	uc001ioc.1	-	27	2890	c.2890G>A	c.(2890-2892)Gat>Aat	p.D964N	ITGA8_uc010qcb.1_Missense_Mutation_p.D949N	NM_003638	NP_003629	P53708	ITA8_HUMAN	Homo sapiens integrin, alpha 8 (ITGA8), mRNA.	964					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						GCATAGGGATCATTTTTTCTC	0.338000														27			23		0	0	0.004656	0	0
SH2B1	25970	broad.mit.edu	37	16	28880631	28880631	+	Silent	SNP	G	A	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr16:28880631G>A	uc002dri.3	+	6	1675	c.1236G>A	c.(1234-1236)ctG>ctA	p.L412L	NPIPL1_uc010vct.2_Intron|SH2B1_uc010vdc.2_Silent_p.L102L|SH2B1_uc002drj.3_Silent_p.L412L|SH2B1_uc002drk.3_Silent_p.L412L|SH2B1_uc002drl.3_Silent_p.L412L|SH2B1_uc010vdd.2_Silent_p.L76L|SH2B1_uc010vde.2_Silent_p.L412L|SH2B1_uc002drm.3_Silent_p.L412L	NM_001145795	NP_001139267	Q9NRF2	SH2B1_HUMAN	Homo sapiens SH2B adaptor protein 1 (SH2B1), transcript variant 1, mRNA.	412	Interaction with JAK2 (low-affinity binding; independent of JAK2 phosphorylation) (By similarity).				blood coagulation|intracellular signal transduction	cytosol|membrane|nucleus	signal transducer activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						TGTCCTGCCTGAATCACTCGG	0.627000														38			17		0	0	0.000958	0	0
DYM	54808	broad.mit.edu	37	18	46956726	46956726	+	Silent	SNP	T	C	C			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr18:46956726T>C	uc002ldi.1	-	1	404	c.39A>G	c.(37-39)aaA>aaG	p.K13K	DYM_uc010xdf.1_Silent_p.K13K	NM_017653	NP_060123	Q7RTS9	DYM_HUMAN	Homo sapiens dymeclin (DYM), mRNA.	13						Golgi apparatus				NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	18						AGTACTCATTTTTAGGAAGAT	0.398000														94			29		0	0	0.002836	0	0
DNAH11	8701	broad.mit.edu	37	7	21892165	21892165	+	Silent	SNP	G	A	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr7:21892165G>A	uc003svc.3	+	67	11029	c.10998G>A	c.(10996-10998)gcG>gcA	p.A3666A		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	3666	AAA 5 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GCCTTTCTGCGGCAGAGGGAA	0.448000									Kartagener syndrome					72			37		0	0	0.003755	0	0
EIF2C1	26523	broad.mit.edu	37	1	36354143	36354143	+	Silent	SNP	C	T	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr1:36354143C>T	uc001bzl.3	+	1	354	c.141C>T	c.(139-141)atC>atT	p.I47I	EIF2C1_uc001bzk.3_5'UTR	NM_012199	NP_036331	Q9UL18	AGO1_HUMAN	Homo sapiens eukaryotic translation initiation factor 2C, 1 (EIF2C1), mRNA.	47					negative regulation of translation involved in gene silencing by miRNA|nuclear-transcribed mRNA catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|micro-ribonucleoprotein complex|polysome	RNA binding|protein binding			biliary_tract(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(2)|prostate(1)|skin(6)|urinary_tract(1)	36		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				AGGTGGACATCCCTAAGATCG	0.562000														69			15		0	0	0.003163	0	0
TTC13	79573	broad.mit.edu	37	1	231056329	231056330	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr1:231056329_231056330GG>AA	uc001huf.4	-	16	1951_1952	c.1909_1910CC>TT	c.(1909-1911)cct>TTt	p.P637F	TTC13_uc001hug.4_Missense_Mutation_p.P584F|TTC13_uc009xfj.3_Non-coding_Transcript|TTC13_uc009xfk.2_Missense_Mutation_p.P527F	NM_024525	NP_078801	Q8NBP0	TTC13_HUMAN	Homo sapiens tetratricopeptide repeat domain 13 (TTC13), transcript variant 1, mRNA.	637							binding			central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	39	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)		COAD - Colon adenocarcinoma(196;0.243)		CAATCCTTTAGGATTATTAGCT	0.356000														80			49		0	0	0.004672	0	0
MAN1C1	57134	broad.mit.edu	37	1	26107603	26107603	+	Splice_Site	SNP	G	A	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr1:26107603G>A	uc001bkm.2	+	10	1980	c.1650_splice	c.e10+1	p.L550_splice	MAN1C1_uc009vry.1_Splice_Site_p.L370_splice	NM_020379	NP_065112	Q9NR34	MA1C1_HUMAN	Homo sapiens mannosidase, alpha, class 1C, member 1 (MAN1C1), mRNA.	550					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(7)|pancreas(1)|prostate(1)|skin(2)	25		Colorectal(325;3.78e-05)|Lung NSC(340;0.000181)|all_lung(284;0.000245)|Renal(390;0.000714)|Ovarian(437;0.00159)|Breast(348;0.0156)|Myeloproliferative disorder(586;0.0257)|all_neural(195;0.0515)|Esophageal squamous(538;0.232)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0574)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.15e-07)|COAD - Colon adenocarcinoma(152;4.31e-06)|STAD - Stomach adenocarcinoma(196;0.00125)|BRCA - Breast invasive adenocarcinoma(304;0.00141)|KIRC - Kidney renal clear cell carcinoma(1967;0.00146)|GBM - Glioblastoma multiforme(114;0.0149)|READ - Rectum adenocarcinoma(331;0.0803)		AGGTGGTGCTGGTGAGTGGGC	0.622000														43			10		0	0	0.001368	0	0
POTEM	641455	broad.mit.edu	37	14	20020012	20020012	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr14:20020012G>A	uc001vwc.3	-	0	261	c.209C>T	c.(208-210)cCc>cTc	p.P70L	POTEM_uc001vwb.3_Non-coding_Transcript	NM_001145442	NP_001138914	A6NI47	POTEM_HUMAN	Homo sapiens POTE ankyrin domain family, member M (POTEM), mRNA.	70										endometrium(4)|kidney(1)|lung(4)	9						CCTGCACCAGGGGAAGCAGTG	0.592000														328			59		0	0	0.003610	0	0
KNDC1	85442	broad.mit.edu	37	10	135026355	135026355	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr10:135026355G>A	uc001llz.1	+	23	4373	c.4372G>A	c.(4372-4374)Gag>Aag	p.E1458K		NM_152643	NP_689856	Q76NI1	VKIND_HUMAN	Homo sapiens kinase non-catalytic C-lobe domain (KIND) containing 1 (KNDC1), transcript variant 1, mRNA.	1458					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		CAAGACCAGTGAGAAGGGGCC	0.647000														16			16		0	0	0.001216	0	0
CXorf23	256643	broad.mit.edu	37	X	19983691	19983691	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chrX:19983691C>T	uc004czp.3	-	2	745	c.745G>A	c.(745-747)Gag>Aag	p.E249K	CXorf23_uc011mjg.2_5'UTR|CXorf23_uc004czo.3_Missense_Mutation_p.E199K	NM_198279	NP_938020	A2AJT9	CX023_HUMAN	Homo sapiens chromosome X open reading frame 23 (CXorf23), mRNA.	249						mitochondrion				endometrium(2)|large_intestine(1)|lung(6)|skin(1)|urinary_tract(1)	11						TCTGTGTCCTCTTGGTAAGGT	0.507000														70			8		0	0	0.004482	0	0
KRT13	3860	broad.mit.edu	37	17	39661729	39661729	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr17:39661729C>T	uc002hwu.1	-	0	137	c.74G>A	c.(73-75)gGa>gAa	p.G25E	KRT13_uc002hwv.1_Missense_Mutation_p.G25E|KRT13_uc010wfr.2_5'UTR|KRT13_uc010cxo.3_Missense_Mutation_p.G25E|KRT13_uc021txk.1_5'Flank	NM_153490	NP_705694	P13646	K1C13_HUMAN	Homo sapiens keratin 13 (KRT13), transcript variant 1, mRNA.	25	Gly-rich.|Head.				epidermis development	intermediate filament	structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	33		Breast(137;0.000286)				ACCACGGCCTCCTCCCAGCTG	0.627000														30			15		0	0	0.006122	0	0
OR10J1	26476	broad.mit.edu	37	1	159409628	159409628	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr1:159409628G>A	uc010piv.2	+	0	117	c.80G>A	c.(79-81)gGt>gAt	p.G27D	BC038194_uc001fts.4_Intron	NM_012351	NP_036483	P30954	O10J1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily J, member 1 (OR10J1), mRNA.	27					sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1)	25	all_hematologic(112;0.0429)					GTTTTCCAAGGTTTCTCTAGC	0.398000														129			19		0	0	0.002780	0	0
APOB	338	broad.mit.edu	37	2	21230565	21230565	+	Missense_Mutation	SNP	G	A	A	rs146377316		TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr2:21230565G>A	uc002red.3	-	25	9303	c.9175C>T	c.(9175-9177)Cgt>Tgt	p.R3059C		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	3059					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	p.R3059C(2)		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)	AATGGAAAACGAACTTTCAAA	0.403000														365			224		0	0	0.003610	0	0
CDH5	1003	broad.mit.edu	37	16	66436860	66436860	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr16:66436860G>A	uc002eom.4	+	11	2299	c.2143G>A	c.(2143-2145)Gag>Aag	p.E715K		NM_001795	NP_001786	P33151	CADH5_HUMAN	Homo sapiens cadherin 5, type 2 (vascular endothelium) (CDH5), mRNA.	715					adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding			central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)		GAAGAAGGACGAGGCGGACCA	0.682000														17			7		0	0	0.003080	0	0
BIRC6	57448	broad.mit.edu	37	2	32654243	32654243	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr2:32654243G>A	uc010ezu.3	+	10	3036	c.2902G>A	c.(2902-2904)Gga>Aga	p.G968R		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	Homo sapiens baculoviral IAP repeat containing 6 (BIRC6), mRNA.	968					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					CCAAATTGGAGGAACCTGTGA	0.333000														21			5		0	0	0.001984	0	0
ATG2B	55102	broad.mit.edu	37	14	96792071	96792071	+	Silent	SNP	G	A	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr14:96792071G>A	uc001yfi.3	-	14	2717	c.2352C>T	c.(2350-2352)ttC>ttT	p.F784F		NM_018036	NP_060506	Q96BY7	ATG2B_HUMAN	Homo sapiens ATG2 autophagy related 2 homolog B (S. cerevisiae) (ATG2B), mRNA.	784										breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		CTAGATCTGTGAAGGCTAAAT	0.368000														30			7		0	0	0.001984	0	0
TRIM32	22954	broad.mit.edu	37	9	119461791	119461791	+	Silent	SNP	C	T	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr9:119461791C>T	uc022bmo.1	+	0	1770	c.1770C>T	c.(1768-1770)atC>atT	p.I590I	ASTN2_uc022bml.1_Intron|ASTN2_uc022bmm.1_Intron|ASTN2_uc004bjt.2_Intron|TRIM32_uc004bjw.2_Silent_p.I590I|TRIM32_uc004bjx.2_Silent_p.I590I	NM_012210	NP_036342	Q13049	TRI32_HUMAN	Homo sapiens tripartite motif containing 32 (TRIM32), transcript variant 1, mRNA.	590					fat cell differentiation|innate immune response|negative regulation of apoptosis|negative regulation of fibroblast proliferation|positive regulation of NF-kappaB transcription factor activity|positive regulation of cell cycle|positive regulation of cell growth|positive regulation of cell migration|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of protein catabolic process|positive regulation of proteolysis|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV|response to tumor necrosis factor	nucleus	RNA binding|Tat protein binding|myosin binding|protein self-association|transcription coactivator activity|translation initiation factor binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	26						GTGATCTCATCGTGGCTGACA	0.537000														36			28		0	0	0.001271	0	0
DNAH10	196385	broad.mit.edu	37	12	124285925	124285925	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr12:124285925G>A	uc001uft.4	+	14	2231	c.2206G>A	c.(2206-2208)Gaa>Aaa	p.E736K	DNAH10_uc010tav.1_Missense_Mutation_p.E278K|DNAH10_uc010taw.1_Missense_Mutation_p.E221K	NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	736	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TCATTCCCAGGAACTGCTCCG	0.448000														77			36		0	0	0.003755	0	0
TEX11	56159	broad.mit.edu	37	X	69945158	69945158	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chrX:69945158C>T	uc004dyl.3	-	12	1086	c.924G>A	c.(922-924)atG>atA	p.M308I	TEX11_uc004dyk.3_5'Flank|TEX11_uc004dym.3_Missense_Mutation_p.M293I	NM_001003811	NP_001003811	Q8IYF3	TEX11_HUMAN	Homo sapiens testis expressed 11 (TEX11), transcript variant 1, mRNA.	308							protein binding			breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48	Renal(35;0.156)					AGAGGATTTTCATTTTTAAGA	0.308000														96			31		0	0	0.004289	0	0
MSH6	2956	broad.mit.edu	37	2	48026038	48026039	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr2:48026038_48026039GG>AA	uc002rwd.4	+	3	1068_1069	c.916_917GG>AA	c.(916-918)gga>AAa	p.G306K	MSH6_uc002rwc.2_Missense_Mutation_p.G306K|MSH6_uc010fbj.3_Missense_Mutation_p.G4K|MSH6_uc010yoj.2_Missense_Mutation_p.G4K	NM_000179	NP_000170	P52701	MSH6_HUMAN	Homo sapiens mutS homolog 6 (E. coli) (MSH6), mRNA.	306					DNA damage response, signal transduction resulting in induction of apoptosis|determination of adult lifespan|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes	MutSalpha complex	ATP binding|DNA-dependent ATPase activity|protein binding	p.0?(2)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			AATGGTGACTGGAAATGGCTCT	0.465000			"""Mis, N, F, S"""		colorectal	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome					195			54		0	0	0.004672	0	0
GTSE1	51512	broad.mit.edu	37	22	46725451	46725451	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr22:46725451C>T	uc011aqy.2	+	10	2335	c.2123C>T	c.(2122-2124)cCg>cTg	p.P708L	GTSE1_uc011aqz.2_Missense_Mutation_p.P555L|GTSE1_uc003bhn.3_Non-coding_Transcript|BC069212_uc011ara.2_5'Flank|BC069212_uc003bho.4_5'Flank	NM_016426	NP_057510	Q9NYZ3	GTSE1_HUMAN	Homo sapiens G-2 and S-phase expressed 1 (GTSE1), mRNA.	689					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process	cytoplasmic microtubule				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	27		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)		AAACCTTCACCGGTGGTGGGA	0.542000														38			8		0	0	0.003080	0	0
PPP2R5A	5525	broad.mit.edu	37	1	212502539	212502539	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr1:212502539T>C	uc001hjb.3	+	1	818	c.244T>C	c.(244-246)Ttt>Ctt	p.F82L	PPP2R5A_uc010ptd.2_Missense_Mutation_p.F25L	NM_006243	NP_006234	Q15172	2A5A_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit B', alpha (PPP2R5A), transcript variant 1, mRNA.	82					negative regulation of establishment of protein localization in plasma membrane|negative regulation of lipid kinase activity|positive regulation of protein dephosphorylation|signal transduction	chromosome, centromeric region|cytoplasm|nucleus|protein phosphatase type 2A complex	kinase binding|protein phosphatase type 2A regulator activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)	16				OV - Ovarian serous cystadenocarcinoma(81;0.0125)|all cancers(67;0.029)|Epithelial(68;0.154)|GBM - Glioblastoma multiforme(131;0.155)		TTGTATACTGTTTGATTTCAT	0.328000														32			15		0	0	0.000958	0	0
YTHDF2	51441	broad.mit.edu	37	1	29070135	29070135	+	Silent	SNP	G	A	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr1:29070135G>A	uc021okf.1	+	4	1616	c.1353G>A	c.(1351-1353)ggG>ggA	p.G451G	YTHDF2_uc001brc.3_Silent_p.G451G|YTHDF2_uc010ofx.2_Silent_p.G401G|YTHDF2_uc001bre.3_Silent_p.G401G	NM_001173128	NP_001166299	Q9Y5A9	YTHD2_HUMAN	Homo sapiens YTH domain family, member 2 (YTHDF2), transcript variant 2, mRNA.	451	YTH.				humoral immune response					NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Lung NSC(340;0.000601)|all_lung(284;0.000771)|Breast(348;0.00502)|Renal(390;0.00758)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;5.46e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)		CCATGAACGGGAAAGGCCCCG	0.468000														45			7		0	0	0.001984	0	0
SETX	23064	broad.mit.edu	37	9	135172314	135172314	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr9:135172314G>A	uc004cbk.3	-	13	6092	c.5909C>T	c.(5908-5910)tCa>tTa	p.S1970L	SETX_uc004cbj.3_Missense_Mutation_p.S1589L|SETX_uc010mzt.3_Missense_Mutation_p.S1589L	NM_015046	NP_055861	Q7Z333	SETX_HUMAN	Homo sapiens senataxin (SETX), mRNA.	1970					RNA processing|cell death|double-strand break repair	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		AATAGTTTTTGATTTTCCTGT	0.413000														31			29		0	0	0.002445	0	0
FIBIN	387758	broad.mit.edu	37	11	27016482	27016482	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr11:27016482C>T	uc001mrd.3	+	0	855	c.409C>T	c.(409-411)Ctc>Ttc	p.L137F		NM_203371	NP_976249	Q8TAL6	FIBIN_HUMAN	Homo sapiens fin bud initiation factor homolog (zebrafish) (FIBIN), mRNA.	137						Golgi apparatus|extracellular region				breast(1)|endometrium(2)|lung(7)|upper_aerodigestive_tract(1)	11						GGACAAATCCCTCACTGAGCT	0.587000														36			12		0	0	0.001855	0	0
MFSD12	126321	broad.mit.edu	37	19	3542863	3542863	+	Silent	SNP	G	A	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr19:3542863G>A	uc002lxw.3	-	9	1703	c.1533C>T	c.(1531-1533)gcC>gcT	p.A511A	MFSD12_uc002lxx.3_Intron|MFSD12_uc010dtl.1_5'Flank|C19orf71_uc010xhm.2_Intron	NM_021731	NP_068377	Q6NUT3	CS028_HUMAN	Homo sapiens major facilitator superfamily domain containing 12 (MFSD12), transcript variant 1, mRNA.	0					transmembrane transport	integral to membrane				cervix(1)|endometrium(2)|lung(4)|urinary_tract(2)	9						AGGCCAGGGGGGCTTCCCAGA	0.632000														36			5		0	0	0.000602	0	0
RYR3	6263	broad.mit.edu	37	15	34078042	34078042	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr15:34078042C>T	uc001zhi.3	+	65	9518	c.9448C>T	c.(9448-9450)Cct>Tct	p.P3150S	RYR3_uc010bar.3_Missense_Mutation_p.P3150S	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	3150					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)		GGAGCGGGGTCCTGAGAACCT	0.567000														112			34		0	0	0.005524	0	0
ZNF449	203523	broad.mit.edu	37	X	134494271	134494271	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chrX:134494271C>T	uc004eys.3	+	4	992	c.827C>T	c.(826-828)cCc>cTc	p.P276L	ZNF449_uc004eyt.3_Missense_Mutation_p.P156L|ZNF449_uc004eyu.3_Missense_Mutation_p.P82L	NM_152695	NP_689908	Q6P9G9	ZN449_HUMAN	Homo sapiens zinc finger protein 449 (ZNF449), mRNA.	276					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					TGGGAAACCCCCCCAGAGGAT	0.438000														64			28		0	0	0.005443	0	0
RUSC2	9853	broad.mit.edu	37	9	35556373	35556374	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr9:35556373_35556374CC>TT	uc003zww.3	+	4	3166_3167	c.2911_2912CC>TT	c.(2911-2913)cct>TTt	p.P971F	RUSC2_uc010mkq.3_Non-coding_Transcript|RUSC2_uc003zwx.4_Missense_Mutation_p.P971F	NM_014806	NP_055621	Q8N2Y8	RUSC2_HUMAN	Homo sapiens RUN and SH3 domain containing 2 (RUSC2), mRNA.	971						cytosol		p.K970N(1)		NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			GACGGAGAAGCCTCCAGCTGAG	0.530000														42			19		0	0	0.004672	0	0
TCP10L2	401285	broad.mit.edu	37	6	167592601	167592601	+	Missense_Mutation	SNP	G	A	A	rs116848674	by1000genomes	TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr6:167592601G>A	uc010kkp.3	+	5	891	c.760G>A	c.(760-762)Gga>Aga	p.G254R		NM_001145121	NP_001138593	B9ZVM9	B9ZVM9_HUMAN	Homo sapiens t-complex 10-like 2 (mouse) (TCP10L2), mRNA.	254										endometrium(1)|kidney(2)|lung(3)	6						GGCAGCAGCCGGAGTTGCTGG	0.577000														13			3		0	0	0.000248	0	0
MRPS18C	51023	broad.mit.edu	37	4	84379500	84379500	+	Splice_Site	SNP	C	T	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr4:84379500C>T	uc003hor.4	+	3	264	c.151_splice	c.e3-1	p.P51_splice	HELQ_uc003hom.3_5'Flank|HELQ_uc010ikb.3_5'Flank|HELQ_uc003hol.4_5'Flank|HELQ_uc010ikc.3_5'Flank|HELQ_uc003hon.1_5'Flank|HELQ_uc003hoo.1_5'Flank|HELQ_uc003hop.1_5'Flank|HELQ_uc003hoq.1_5'Flank	NM_016067	NP_057151	Q9Y3D5	RT18C_HUMAN	Homo sapiens mitochondrial ribosomal protein S18C (MRPS18C), nuclear gene encoding mitochondrial protein, mRNA.	51					translation	mitochondrial small ribosomal subunit	structural constituent of ribosome			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5		Hepatocellular(203;0.114)				TTTCCCTAGCCCATTTCAATG	0.303000														43			5		0	0	0.001168	0	0
NUP210L	91181	broad.mit.edu	37	1	154061998	154061998	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr1:154061998G>A	uc001fdw.3	-	15	2332	c.2260C>T	c.(2260-2262)Cgc>Tgc	p.R754C	NUP210L_uc009woq.3_5'UTR|NUP210L_uc010peh.2_Missense_Mutation_p.R754C	NM_207308	NP_997191	Q5VU65	P210L_HUMAN	Homo sapiens nucleoporin 210kDa-like (NUP210L), transcript variant 1, mRNA.	754						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			CAAATGAAGCGAACCTGCAAA	0.498000														89			47		0	0	0.003610	0	0
RIPK2	8767	broad.mit.edu	37	8	90782122	90782122	+	Missense_Mutation	SNP	A	C	C			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr8:90782122A>C	uc003yee.3	+	3	920	c.606A>C	c.(604-606)caA>caC	p.Q202H	RIPK2_uc003yef.3_Missense_Mutation_p.Q65H	NM_003821	NP_003812	O43353	RIPK2_HUMAN	Homo sapiens receptor-interacting serine-threonine kinase 2 (RIPK2), mRNA.	202	Protein kinase.				JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T cell receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|anti-apoptosis|apoptosis|inflammatory response|innate immune response|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein ubiquitination|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|CARD domain binding|LIM domain binding|protein homodimerization activity|protein serine/threonine kinase activity|signal transducer activity			kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)	10			BRCA - Breast invasive adenocarcinoma(11;0.0474)			AACCTGGACAAAAATCAAGGG	0.418000														191			16		0	0	0.003163	0	0
PCNXL3	399909	broad.mit.edu	37	11	65396095	65396095	+	Silent	SNP	C	T	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr11:65396095C>T	uc001oey.2	+	22	3732	c.3732C>T	c.(3730-3732)ttC>ttT	p.F1244F	PCNXL3_uc001oez.2_Silent_p.F131F	NM_032223	NP_115599	Q9H6A9	PCX3_HUMAN	Homo sapiens pecanex-like 3 (Drosophila) (PCNXL3), mRNA.	1244						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						AGCTGCGTTTCGTGCTGACCT	0.602000														41			12		0	0	0.001855	0	0
abParts	0	broad.mit.edu	37	22	23104890	23104890	+	Splice_Site	SNP	C	G	G			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr22:23104890C>G	uc021wml.1	+	269		c.12551_splice	c.e269-2		abParts_uc021wmm.1_Intron					Parts of antibodies, mostly variable regions.																		GACTGGTACCCGCAAAAGCCA	0.572000														21			5		0	0	0.000602	0	0
VAV1	7409	broad.mit.edu	37	19	6820742	6820742	+	Silent	SNP	C	T	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr19:6820742C>T	uc002mfu.1	+	1	331	c.234C>T	c.(232-234)ttC>ttT	p.F78F	VAV1_uc010xjh.1_Silent_p.F78F|VAV1_uc010dva.1_Silent_p.F78F|VAV1_uc002mfv.1_Silent_p.F23F	NM_005428	NP_005419	P15498	VAV_HUMAN	Homo sapiens vav 1 guanine nucleotide exchange factor (VAV1), mRNA.	78	CH.|Leu-rich.				T cell costimulation|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						TTAGAACCTTCCTGTCCACCT	0.552000														96			32		0	0	0.003271	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140788486	140788486	+	Silent	SNP	C	T	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr5:140788486C>T	uc003lkj.2	+	0	717	c.717C>T	c.(715-717)ccC>ccT	p.P239P	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lki.1_Silent_p.P239P	NM_018926	NP_061749	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 6 (PCDHGB6), transcript variant 1, mRNA.	239	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGATAACCCCCCGGTTTTCA	0.502000														17			10		0	0	0.000443	0	0
OR2T10	127069	broad.mit.edu	37	1	248756773	248756774	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr1:248756773_248756774GG>AA	uc010pzn.2	-	0	296_297	c.296_297CC>TT	c.(295-297)acc>aTT	p.T99I		NM_001004693	NP_001004693	Q8NGZ9	O2T10_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 10 (OR2T10), mRNA.	99					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(17)|skin(3)|upper_aerodigestive_tract(1)	26	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AGTACATCTGGGTGCCACACCC	0.525000														20			8		0	0	0.004672	0	0
LRRIQ1	84125	broad.mit.edu	37	12	85492217	85492217	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr12:85492217C>T	uc001tac.3	+	11	3083	c.2972C>T	c.(2971-2973)cCt>cTt	p.P991L	LRRIQ1_uc021rbo.1_Missense_Mutation_p.P869L	NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 1 (LRRIQ1), mRNA.	991										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		TGTGATACACCTACCATTGTA	0.328000														79			21		0	0	0.001523	0	0
CDCA7	83879	broad.mit.edu	37	2	174228117	174228117	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr2:174228117C>T	uc002uic.1	+	3	679	c.548C>T	c.(547-549)tCc>tTc	p.S183F	CDCA7_uc002uid.1_Missense_Mutation_p.S104F|CDCA7_uc010zej.1_Missense_Mutation_p.S139F|CDCA7_uc010zek.1_Missense_Mutation_p.S62F	NM_031942	NP_114148	Q9BWT1	CDCA7_HUMAN	Homo sapiens cell division cycle associated 7 (CDCA7), transcript variant 1, mRNA.	104	Arg-rich.				regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		p.S183S(2)		breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.116)			GATTCCAACTCCGATTCAGAA	0.433000														78			17		0	0	0.004007	0	0
LHCGR	3973	broad.mit.edu	37	2	48914908	48914908	+	Silent	SNP	G	A	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr2:48914908G>A	uc002rwu.4	-	10	2098	c.2028C>T	c.(2026-2028)tcC>tcT	p.S676S	STON1-GTF2A1L_uc021vhf.1_Intron	NM_000233	NP_000224	P22888	LSHR_HUMAN	Homo sapiens luteinizing hormone/choriogonadotropin receptor (LHCGR), mRNA.	676					male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity			NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	ACTTCAAGGTGGATTGAGAAG	0.418000														81			47		0	0	0.003610	0	0
PTPRT	11122	broad.mit.edu	37	20	41076902	41076902	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr20:41076902C>T	uc002xkg.3	-	8	1702	c.1518G>A	c.(1516-1518)tgG>tgA	p.W506*	PTPRT_uc010ggj.3_Nonsense_Mutation_p.W506*	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	506	Fibronectin type-III 3.				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)				TGGGAGGTTTCCACTGGATGT	0.483000														154			40		0	0	0.003610	0	0
TNS3	64759	broad.mit.edu	37	7	47342997	47342997	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr7:47342997G>A	uc003tnw.3	-	21	3366	c.3008C>T	c.(3007-3009)tCc>tTc	p.S1003F	TNS3_uc022acn.1_Missense_Mutation_p.S560F	NM_022748	NP_073585	Q68CZ2	TENS3_HUMAN	Homo sapiens tensin 3 (TNS3), mRNA.	1003						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						CTCTGCTAGGGACAGCTCATG	0.677000														23			10		0	0	0.000978	0	0
MUC16	94025	broad.mit.edu	37	19	9046505	9046505	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr19:9046505G>A	uc002mkp.3	-	4	35330	c.35126C>T	c.(35125-35127)tCc>tTc	p.S11709F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	11711	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						ACTACTATGGGAAAAACTGGA	0.512000														81			12		0	0	0.001368	0	0
ST3GAL1	6482	broad.mit.edu	37	8	134475675	134475675	+	Silent	SNP	G	A	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr8:134475675G>A	uc003yuk.2	-	7	1540	c.711C>T	c.(709-711)atC>atT	p.I237I	ST3GAL1_uc003yum.2_Silent_p.I237I	NM_173344	NP_775479	Q11201	SIA4A_HUMAN	Homo sapiens ST3 beta-galactoside alpha-2,3-sialyltransferase 1 (ST3GAL1), transcript variant 2, mRNA.	237					protein glycosylation	Golgi cisterna membrane|extracellular region|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity			endometrium(3)|large_intestine(2)|lung(11)|prostate(1)	17	all_epithelial(106;1.53e-23)|Lung NSC(106;3.15e-07)|all_lung(105;1.26e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.00721)			GTTTCACTCTGATCTTTGCAG	0.557000														54			61		0	0	0.003610	0	0
SCN9A	6335	broad.mit.edu	37	2	167108394	167108394	+	Splice_Site	SNP	C	T	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr2:167108394C>T	uc010fpl.3	-	18	3660	c.3319_splice	c.e18-1	p.R1107_splice	BC051759_uc002udp.3_Non-coding_Transcript	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA.	1118						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	CCGGTTTAATCTCTAGAAAGG	0.408000														29			7		0	0	0.001984	0	0
DOCK2	1794	broad.mit.edu	37	5	169507175	169507175	+	Silent	SNP	G	A	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr5:169507175G>A	uc003maf.3	+	49	5255	c.5175G>A	c.(5173-5175)agG>agA	p.R1725R	DOCK2_uc011der.2_Non-coding_Transcript|DOCK2_uc010jjm.3_Silent_p.R1217R|DOCK2_uc003mah.3_Silent_p.R281R	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	Homo sapiens dedicator of cytokinesis 2 (DOCK2), mRNA.	1725					actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	GTP binding|GTPase binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding|electron carrier activity|heme binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGCTTTCCAGGAAGCATGAGT	0.537000														65			13		0	0	0.001855	0	0
CDH7	1005	broad.mit.edu	37	18	63526247	63526247	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr18:63526247G>A	uc002lkb.3	+	8	1885	c.1459G>A	c.(1459-1461)Gag>Aag	p.E487K	CDH7_uc002ljz.3_Missense_Mutation_p.E487K|CDH7_uc002lka.3_Missense_Mutation_p.E487K	NM_004361	NP_387450	Q9ULB5	CADH7_HUMAN	Homo sapiens cadherin 7, type 2 (CDH7), transcript variant b, mRNA.	487	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				CATGGACTATGAGACCACCGT	0.428000														71			22		0	0	0.002299	0	0
ZNF561	93134	broad.mit.edu	37	19	9724727	9724727	+	Silent	SNP	C	T	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr19:9724727C>T	uc002mlu.3	-	4	499	c.294G>A	c.(292-294)ttG>ttA	p.L98L	ZNF561_uc010dwu.3_Silent_p.L29L|ZNF561_uc010xkr.2_Intron	NM_152289	NP_689502	Q8N587	ZN561_HUMAN	Homo sapiens zinc finger protein 561 (ZNF561), mRNA.	98	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)	14						TTTGATTCTTCAAAAAACCCT	0.323000														84			20		0	0	0.002780	0	0
OR6C6	283365	broad.mit.edu	37	12	55688116	55688116	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr12:55688116C>T	uc010sph.2	-	0	901	c.901G>A	c.(901-903)Gat>Aat	p.D301N		NM_001005493	NP_001005493	A6NF89	OR6C6_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 6 (OR6C6), mRNA.	301					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						TGTAATACATCCCAGAAGACT	0.363000														50			16		0	0	0.000958	0	0
SLC12A1	6557	broad.mit.edu	37	15	48539600	48539600	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr15:48539600G>A	uc001zwn.4	+	12	1843	c.1627G>A	c.(1627-1629)Gaa>Aaa	p.E543K	SLC12A1_uc010uew.1_Missense_Mutation_p.E349K|SLC12A1_uc010bem.3_Missense_Mutation_p.E543K|SLC12A1_uc001zwq.4_Missense_Mutation_p.E314K|SLC12A1_uc001zwr.4_Missense_Mutation_p.E270K	NM_000338	NP_000329	Q13621	S12A1_HUMAN	Homo sapiens solute carrier family 12 (sodium/potassium/chloride transporters), member 1 (SLC12A1), transcript variant 1, mRNA.	543					potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	GAAAAACAATGAACCCCTGAG	0.338000														35			9		0	0	0.000443	0	0
CACNB4	785	broad.mit.edu	37	2	152695707	152695708	+	Nonsense_Mutation	DNP	GG	AA	AA			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr2:152695707_152695708GG>AA	uc002tya.3	-	13	1556_1557	c.1488_1489CC>TT	c.(1486-1491)taccag>taTTag	p.Q497*	CACNB4_uc002txy.3_Nonsense_Mutation_p.Q463*|CACNB4_uc002txz.3_Nonsense_Mutation_p.Q479*|CACNB4_uc010fnz.3_Nonsense_Mutation_p.Q435*	NM_000726	NP_000717	O00305	CACB4_HUMAN	Homo sapiens calcium channel, voltage-dependent, beta 4 subunit (CACNB4), transcript variant 2, mRNA.	497					axon guidance|membrane depolarization|synaptic transmission	cytosol|internal side of plasma membrane|plasma membrane|synapse|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11				BRCA - Breast invasive adenocarcinoma(221;0.156)	Verapamil(DB00661)	TAAGTGTCCTGGTATGAGTCAG	0.460000														55			12		0	0	0.004672	0	0
COL7A1	1294	broad.mit.edu	37	3	48613167	48613168	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr3:48613167_48613168CC>TT	uc003ctz.2	-	71	5871_5872	c.5870_5871GG>AA	c.(5869-5871)cgg>cAA	p.R1957Q		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	Homo sapiens collagen, type VII, alpha 1 (COL7A1), mRNA.	1957	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CCACGATCTCCCGCAGGGCAGA	0.683000														23			9		0	0	0.004672	0	0
SDC3	9672	broad.mit.edu	37	1	31351554	31351554	+	Missense_Mutation	SNP	G	C	C			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr1:31351554G>C	uc001bse.2	-	1	219	c.172C>G	c.(172-174)Ccc>Gcc	p.P58A	SDC3_uc001bsd.2_5'UTR	NM_014654	NP_055469	O75056	SDC3_HUMAN	Homo sapiens syndecan 3 (SDC3), mRNA.	58						integral to membrane	cytoskeletal protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0393)|Colorectal(325;0.0466)|all_neural(195;0.0966)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)		STAD - Stomach adenocarcinoma(196;0.0197)|READ - Rectum adenocarcinoma(331;0.0649)		AGGTCCACGGGTCTCTCGAAG	0.637000														78			13		0	0	0.003163	0	0
CSMD1	64478	broad.mit.edu	37	8	2836224	2836224	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr8:2836224G>A	uc022aqr.1	-	54	8866	c.8476C>T	c.(8476-8478)Cat>Tat	p.H2826Y	CSMD1_uc011kwj.2_Missense_Mutation_p.H2156Y|CSMD1_uc010lrg.3_Missense_Mutation_p.H837Y	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	2827	Sushi 20.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TTCTTGCAATGGTACAGGATA	0.478000														16			9		0	0	0.000443	0	0
LACRT	90070	broad.mit.edu	37	12	55025612	55025612	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr12:55025612C>T	uc001sgi.1	-	3	303	c.265G>A	c.(265-267)Gag>Aag	p.E89K		NM_033277	NP_150593	Q9GZZ8	LACRT_HUMAN	Homo sapiens lacritin (LACRT), mRNA.	89					calcineurin-NFAT signaling pathway|positive regulation of NFAT protein import into nucleus|positive regulation of epithelial cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of secretion|protein localization in Golgi apparatus|tear secretion	extracellular region|stored secretory granule	collagen binding|fibronectin binding|glycoprotein binding|growth factor activity|laminin-1 binding|protein N-terminus binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(4)|stomach(1)	10						ATACTTTTCTCCACTATGGAT	0.458000														97			32		0	0	0.002836	0	0
LOXL4	84171	broad.mit.edu	37	10	100015377	100015377	+	Silent	SNP	G	A	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr10:100015377G>A	uc001kpa.1	-	9	1699	c.1548C>T	c.(1546-1548)tcC>tcT	p.S516S		NM_032211	NP_115587	Q96JB6	LOXL4_HUMAN	Homo sapiens lysyl oxidase-like 4 (LOXL4), mRNA.	516	SRCR 4.					extracellular space|membrane	copper ion binding|protein binding|scavenger receptor activity			breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(8)|ovary(4)|prostate(1)|skin(2)	26		Colorectal(252;0.234)		Epithelial(162;2.14e-11)|all cancers(201;2.49e-09)		CGCCACCGTGGGAGCAGTGCA	0.687000														32			28		0	0	0.001512	0	0
ABCC1	4363	broad.mit.edu	37	16	16110416	16110416	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr16:16110416C>T	uc010bvi.3	+	4	728	c.553C>T	c.(553-555)Cag>Tag	p.Q185*	ABCC1_uc010bvj.3_Nonsense_Mutation_p.Q185*|ABCC1_uc010bvk.3_Nonsense_Mutation_p.Q185*|ABCC1_uc010bvl.3_Nonsense_Mutation_p.Q185*|ABCC1_uc010bvm.3_Nonsense_Mutation_p.Q185*|ABCC1_uc002del.4_Nonsense_Mutation_p.Q69*|ABCC1_uc010bvn.3_Nonsense_Mutation_p.Q48*	NM_004996	NP_004987	P33527	MRP1_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 1 (ABCC1), transcript variant 1, mRNA.	185					hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	CTTACTCATTCAGCTCGTCTT	0.493000														220			56		0	0	0.003610	0	0
MUC16	94025	broad.mit.edu	37	19	9085301	9085301	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr19:9085301C>T	uc002mkp.3	-	0	6718	c.6514G>A	c.(6514-6516)Gcc>Acc	p.A2172T		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	2172	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GCTGAAGAGGCTGTGCCTAAA	0.448000														27			6		0	0	0.001168	0	0
IQCG	84223	broad.mit.edu	37	3	197665517	197665517	+	Silent	SNP	G	A	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr3:197665517G>A	uc003fyo.3	-	3	563	c.417C>T	c.(415-417)ttC>ttT	p.F139F	IQCG_uc003fyn.3_Silent_p.F41F|IQCG_uc003fyp.3_Silent_p.F139F|IQCG_uc003fyq.4_Silent_p.F139F	NM_001134435	NP_115639	Q9H095	IQCG_HUMAN	Homo sapiens IQ motif containing G (IQCG), transcript variant 2, mRNA.	139										autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.149)		ACTCCACAGCGAACCGGCCTC	0.428000														282			82		0	0	0.003610	0	0
ADCY8	114	broad.mit.edu	37	8	131826344	131826344	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr8:131826344G>A	uc003ytd.4	-	13	3140	c.2884C>T	c.(2884-2886)Cat>Tat	p.H962Y	ADCY8_uc010mds.3_Missense_Mutation_p.H831Y	NM_001115	NP_001106	P40145	ADCY8_HUMAN	Homo sapiens adenylate cyclase 8 (brain) (ADCY8), mRNA.	962					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			TCTAGGAAATGGCGGGCCACA	0.527000										HNSCC(32;0.087)				65			64		0	0	0.003610	0	0
ABCA6	23460	broad.mit.edu	37	17	67083580	67083580	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr17:67083580G>A	uc002jhw.1	-	28	3908	c.3733C>T	c.(3733-3735)Cca>Tca	p.P1245S		NM_080284	NP_525023	Q8N139	ABCA6_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 6 (ABCA6), mRNA.	1245					transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					GGTTCTTCTGGATTTGGCTTA	0.373000														148			25		0	0	0.005443	0	0
URB2	9816	broad.mit.edu	37	1	229773376	229773376	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr1:229773376G>A	uc001hts.1	+	3	3152	c.3016G>A	c.(3016-3018)Gag>Aag	p.E1006K	URB2_uc009xfd.1_Missense_Mutation_p.E1006K	NM_014777	NP_055592	Q14146	URB2_HUMAN	Homo sapiens URB2 ribosome biogenesis 2 homolog (S. cerevisiae) (URB2), mRNA.	1006						nucleolus				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						GACGTTCTTAGAGGAGCTAAT	0.458000														40			16		0	0	0.004007	0	0
C15orf42	90381	broad.mit.edu	37	15	90168917	90168917	+	Silent	SNP	C	T	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr15:90168917C>T	uc002boe.3	+	19	5376	c.5376C>T	c.(5374-5376)gaC>gaT	p.D1792D	C15orf42_uc021sug.1_Silent_p.D1791D	NM_152259	NP_689472	Q7Z2Z1	TICRR_HUMAN	Homo sapiens chromosome 15 open reading frame 42 (C15orf42), mRNA.	1792					DNA repair|DNA replication|G2/M transition checkpoint|cell cycle|formation of translation preinitiation complex|mitotic cell cycle DNA replication checkpoint|regulation of DNA-dependent DNA replication initiation|response to ionizing radiation	nucleus	chromatin binding|protein binding			NS(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(21)|ovary(6)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	59	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			GGATCTGTGACCTGAGAGAAG	0.527000														51			12		0	0	0.000978	0	0
ECM2	1842	broad.mit.edu	37	9	95277109	95277109	+	Silent	SNP	C	T	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr9:95277109C>T	uc011lty.2	-	3	1045	c.858G>A	c.(856-858)gaG>gaA	p.E286E	CENPP_uc004arz.3_Intron|CENPP_uc010mqx.3_Intron|ECM2_uc004asf.4_Silent_p.E264E|ECM2_uc004asg.3_Silent_p.E264E	NM_001393	NP_001384	O94769	ECM2_HUMAN	Homo sapiens extracellular matrix protein 2, female organ and adipocyte specific (ECM2), transcript variant 1, mRNA.	286					cell-matrix adhesion		integrin binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						cctcgtcctcctcatcctcct	0.632000														30			19		0	0	0.001216	0	0
ADAMTS6	11174	broad.mit.edu	37	5	64748012	64748012	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr5:64748012C>T	uc003jtp.3	-	5	1689	c.875G>A	c.(874-876)gGa>gAa	p.G292E	ADAMTS6_uc003jto.3_Non-coding_Transcript|ADAMTS6_uc003jtq.3_Non-coding_Transcript|ADAMTS6_uc003jtr.1_5'UTR	NM_197941	NP_922932	Q9UKP5	ATS6_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 6 (ADAMTS6), mRNA.	292	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3)	18		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)		CACAACGTTTCCTAGGCTGGA	0.353000														54			16		0	0	0.000958	0	0
SLAMF6	114836	broad.mit.edu	37	1	160466015	160466015	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr1:160466015G>A	uc001fwe.2	-	1	288	c.218C>T	c.(217-219)cCa>cTa	p.P73L	SLAMF6_uc010pji.2_Intron|SLAMF6_uc001fwd.2_Missense_Mutation_p.P73L|SLAMF6_uc010pjh.2_Missense_Mutation_p.P24L|SLAMF6_uc010pjj.2_Intron|SLAMF6_uc009wtm.2_Missense_Mutation_p.P24L	NM_001184714	NP_001171643	Q96DU3	SLAF6_HUMAN	Homo sapiens SLAM family member 6 (SLAMF6), transcript variant 1, mRNA.	73						integral to membrane|plasma membrane	receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(4)	22	all_cancers(52;1.05e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0923)			GTGGATTTCTGGACTTTTGGT	0.478000														116			23		0	0	0.002780	0	0
AXIN1	8312	broad.mit.edu	37	16	338190	338190	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr16:338190G>A	uc002cgp.2	-	10	2910	c.2521C>T	c.(2521-2523)Cga>Tga	p.R841*	LUC7L_uc021szo.1_Intron|AXIN1_uc002cgq.2_Nonsense_Mutation_p.R805*	NM_003502	NP_003493	O15169	AXIN1_HUMAN	Homo sapiens axin 1 (AXIN1), transcript variant 1, mRNA.	841	DIX.		R -> Q (in hepatoblastoma; dbSNP:rs34015754).		Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis|activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density	GTPase activator activity|I-SMAD binding|armadillo repeat domain binding|beta-catenin binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)				TCGTCCTCTCGAACCTCCTCA	0.592000														88			25		0	0	0.005443	0	0
DENND2A	27147	broad.mit.edu	37	7	140285496	140285496	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr7:140285496C>T	uc010lnk.3	-	4	1658	c.1138G>A	c.(1138-1140)Gag>Aag	p.E380K	DENND2A_uc011kre.2_Non-coding_Transcript|DENND2A_uc010lnj.3_Missense_Mutation_p.E380K|DENND2A_uc003vvw.3_Missense_Mutation_p.E380K|DENND2A_uc003vvx.3_Missense_Mutation_p.E380K	NM_015689	NP_056504	Q9ULE3	DEN2A_HUMAN	Homo sapiens DENN/MADD domain containing 2A (DENND2A), mRNA.	380										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)					TAAGGGTTCTCCTTCATTGGC	0.483000														133			31		0	0	0.003755	0	0
CYFIP2	26999	broad.mit.edu	37	5	156723741	156723741	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr5:156723741G>A	uc021ygm.1	+	4	481	c.343G>A	c.(343-345)Gag>Aag	p.E115K	CYFIP2_uc011ddn.2_Missense_Mutation_p.E90K|CYFIP2_uc011ddo.2_Intron|CYFIP2_uc021ygn.1_Missense_Mutation_p.E115K|CYFIP2_uc021ygo.1_Missense_Mutation_p.E115K|CYFIP2_uc003lwt.3_5'UTR|CYFIP2_uc011ddp.2_5'UTR	NM_001037333	NP_001032410	Q96F07	CYFP2_HUMAN	Homo sapiens cytoplasmic FMR1 interacting protein 2 (CYFIP2), transcript variant 1, mRNA.	116					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)			AGAGGTGCTGGAGCCGGAGGT	0.512000														210			43		0	0	0.003610	0	0
ZNF536	9745	broad.mit.edu	37	19	30934830	30934830	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr19:30934830G>A	uc002nsu.1	+	1	499	c.361G>A	c.(361-363)Gag>Aag	p.E121K	ZNF536_uc010edd.1_Missense_Mutation_p.E121K	NM_014717	NP_055532	O15090	ZN536_HUMAN	Homo sapiens zinc finger protein 536 (ZNF536), mRNA.	121					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GAGCGACATCGAGGACGACGC	0.642000														18			11		0	0	0.000978	0	0
REEP2	51308	broad.mit.edu	37	5	137776703	137776703	+	Splice_Site	SNP	A	G	G			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr5:137776703A>G	uc003lda.3	+	2	155	c.33_splice	c.e2-2	p.V11_splice	REEP2_uc003lcz.3_Splice_Site_p.V11_splice|REEP2_uc011cyt.2_5'UTR	NM_016606	NP_057690	Q9BRK0	REEP2_HUMAN	Homo sapiens receptor accessory protein 2 (REEP2), mRNA.	11						integral to membrane				endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CTGCCTCCCTAGGCTCATCTT	0.557000														38			7		0	0	0.003080	0	0
OTOGL	283310	broad.mit.edu	37	12	80714336	80714336	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr12:80714336C>T	uc001szd.3	+	32	3916	c.3910C>T	c.(3910-3912)Cag>Tag	p.Q1304*		NM_173591	NP_775862			Homo sapiens otogelin-like (OTOGL), mRNA.											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						TTTCCACCATCAGGGCCTCTG	0.418000														36			10		0	0	0.001368	0	0
OBSCN	84033	broad.mit.edu	37	1	228556587	228556587	+	Silent	SNP	C	T	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr1:228556587C>T	uc009xez.1	+	88	19976	c.19932C>T	c.(19930-19932)tcC>tcT	p.S6644S	OBSCN_uc001hsr.1_Silent_p.S1273S	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	6644	Protein kinase 1.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GCGAAGCCTCCGACATTTGGT	0.632000														42			25		0	0	0.004656	0	0
ASL	435	broad.mit.edu	37	7	65557819	65557819	+	Missense_Mutation	SNP	G	T	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr7:65557819G>T	uc003tup.3	+	15	1550	c.1315G>T	c.(1315-1317)Gcc>Tcc	p.A439S	ASL_uc003tuo.3_Missense_Mutation_p.A439S|ASL_uc003tur.3_Missense_Mutation_p.A413S|ASL_uc003tuq.3_Missense_Mutation_p.A419S	NM_001024943	NP_001020114	P04424	ARLY_HUMAN	Homo sapiens argininosuccinate lyase (ASL), transcript variant 1, mRNA.	439					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)	GCAGTATGGTGCCCTGGGCGG	0.697000														56			26		2.48779e-11	5.26622e-11	0.005443	1	0
PADI4	23569	broad.mit.edu	37	1	17668570	17668571	+	Frame_Shift_Ins	INS	-	G	G	rs34743635		TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr1:17668570_17668571insG	uc001baj.2	+	6	813_814	c.785_786insG	c.(784-786)ccgfs	p.P262fs	PADI4_uc009vpc.2_Frame_Shift_Ins_p.P262fs	NM_012387	NP_036519	Q9UM07	PADI4_HUMAN	Homo sapiens peptidyl arginine deiminase, type IV (PADI4), mRNA.	262					chromatin modification|peptidyl-citrulline biosynthetic process from peptidyl-arginine|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(2)|urinary_tract(3)	26		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199)	L-Citrulline(DB00155)	ACCGACTTCCCGGGGCTCATTA	0.634													---	90	---	---	11	---					
LEPR	3953	broad.mit.edu	37	1	66102426	66102429	+	Frame_Shift_Del	DEL	TCTA	-	-			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr1:66102426_66102429delTCTA	uc001dci.3	+	19	3615_3618	c.3226_3229delTCTA	c.(3226-3231)tctatcfs	p.S1076fs	LEPR_uc009waq.3_3'UTR	NM_002303	NP_002294	P48357	LEPR_HUMAN	Homo sapiens leptin receptor (LEPR), transcript variant 1, mRNA.	1076					energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		TGATAAAAAGTCTATCTATTATTT	0.402													---	136	---	---	17	---					
EIF2AK3	9451	broad.mit.edu	37	2	88874269	88874270	+	Frame_Shift_Del	DEL	CT	-	-			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr2:88874269_88874270delCT	uc002stc.4	-	12	3033_3034	c.2731_2732delAG	c.(2731-2733)aggfs	p.R911fs		NM_004836	NP_004827	Q9NZJ5	E2AK3_HUMAN	Homo sapiens eukaryotic translation initiation factor 2-alpha kinase 3 (EIF2AK3), mRNA.	911	Protein kinase.				ER overload response|activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding			ovary(3)	3						ACACACGCTCCTCTCTCTCTCC	0.465													---	981	---	---	7	---					
CBLB	868	broad.mit.edu	37	3	105412365	105412367	+	In_Frame_Del	DEL	GGA	-	-			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr3:105412365_105412367delGGA	uc003dwc.3	-	12	2347_2349	c.2025_2027delTCC	c.(2023-2028)cctcca>cca	p.675_676PP>P	CBLB_uc011bhi.2_In_Frame_Del_p.697_698PP>P|CBLB_uc003dwd.2_In_Frame_Del_p.675_676PP>P|CBLB_uc003dwe.2_In_Frame_Del_p.675_676PP>P	NM_170662	NP_733762	Q13191	CBLB_HUMAN	Homo sapiens Cas-Br-M (murine) ecotropic retroviral transforming sequence b (CBLB), mRNA.	675	Pro-rich.				NLS-bearing substrate import into nucleus|cell surface receptor linked signaling pathway	cytoplasm|nucleus	calcium ion binding|ligase activity|signal transducer activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						GGTGGTAACTGGAGGAGGAGGAG	0.414			Mis S		AML								---	44	---	---	9	---					
COL6A6	131873	broad.mit.edu	37	3	130300683	130300685	+	In_Frame_Del	DEL	CTC	-	-			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr3:130300683_130300685delCTC	uc010htl.3	+	7	3857_3859	c.3826_3828delCTC	c.(3826-3828)ctcdel	p.L1276del	COL6A6_uc003eni.4_5'Flank	NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	Homo sapiens collagen, type VI, alpha 6 (COL6A6), mRNA.	1276	Nonhelical region.|VWFA 7.				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						ACCATCTCTTCTCAATGCAAACC	0.365													---	296	---	---	31	---					
FGF10	2255	broad.mit.edu	37	5	44388533	44388534	+	Frame_Shift_Del	DEL	AG	-	-			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr5:44388533_44388534delAG	uc003jog.1	-	0	251_252	c.251_252delCT	c.(250-252)tctfs	p.S84fs		NM_004465	NP_004456	O15520	FGF10_HUMAN	Homo sapiens fibroblast growth factor 10 (FGF10), mRNA.	84					ERK1 and ERK2 cascade|actin cytoskeleton reorganization|activation of MAPK activity|bud outgrowth involved in lung branching|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|insulin receptor signaling pathway|lacrimal gland development|lung saccule development|mesonephros development|negative regulation of cell cycle arrest|positive regulation of ATPase activity|positive regulation of DNA repair|positive regulation of DNA replication|positive regulation of ERK1 and ERK2 cascade|positive regulation of Ras protein signal transduction|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell migration|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of hair follicle cell proliferation|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of lymphocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of urothelial cell proliferation|protein localization at cell surface|radial glial cell differentiation|regulation of saliva secretion|response to protein stimulus|secretion by lung epithelial cell involved in lung growth|tear secretion|thymus development|urothelial cell proliferation	cell surface|extracellular space|nucleus|plasma membrane	chemoattractant activity|growth factor activity|heparin binding|type 2 fibroblast growth factor receptor binding			haematopoietic_and_lymphoid_tissue(1)|lung(11)|skin(1)	13	Lung NSC(6;1.12e-06)					ACTTGGTGAAAGAGAATAGCTT	0.510													---	70	---	---	10	---					
PHTF2	57157	broad.mit.edu	37	7	77569579	77569580	+	Frame_Shift_Del	DEL	TC	-	-			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr7:77569579_77569580delTC	uc003ugs.4	+	12	1826_1827	c.1700_1701delTC	c.(1699-1701)ttcfs	p.F567fs	PHTF2_uc003ugp.3_Frame_Shift_Del_p.F529fs|PHTF2_uc010ldv.3_Frame_Shift_Del_p.F529fs|PHTF2_uc003ugq.4_Frame_Shift_Del_p.F529fs|PHTF2_uc003ugt.4_Frame_Shift_Del_p.F533fs|PHTF2_uc003ugu.4_Frame_Shift_Del_p.F529fs|PHTF2_uc022agp.1_Frame_Shift_Del_p.F567fs|PHTF2_uc010ldw.2_Frame_Shift_Del_p.F349fs	NM_001127357	NP_001120829	Q8N3S3	PHTF2_HUMAN	Homo sapiens putative homeodomain transcription factor 2 (PHTF2), transcript variant 1, mRNA.	567					regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum|nucleus	DNA binding			endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	19						GTGTGGATTTTCTTTTTTTTGC	0.307													---	226	---	---	7	---					
RFXAP	5994	broad.mit.edu	37	13	37393673	37393673	+	Frame_Shift_Del	DEL	C	-	-			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr13:37393673delC	uc001uvu.1	+	0	335	c.179delC	c.(178-180)gccfs	p.A60fs		NM_000538	NP_000529	O00287	RFXAP_HUMAN	Homo sapiens regulatory factor X-associated protein (RFXAP), mRNA.	60						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|ovary(1)	4		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)		all cancers(112;3.5e-07)|Epithelial(112;1.27e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.0069)|BRCA - Breast invasive adenocarcinoma(63;0.0116)|GBM - Glioblastoma multiforme(144;0.0405)		GAGGCTGCGGCCCCCGGGGGC	0.706													---	4	---	---	2	---					
HCN4	10021	broad.mit.edu	37	15	73660292	73660292	+	Frame_Shift_Del	DEL	C	-	-			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr15:73660292delC	uc002avp.3	-	0	1314	c.320delG	c.(319-321)ggcfs	p.G107fs		NM_005477	NP_005468	Q9Y3Q4	HCN4_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 4 (HCN4), mRNA.	107					blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		GCTGCCGCCGCCCCGGCTGCC	0.781													---	4	---	---	2	---					
NLK	51701	broad.mit.edu	37	17	26449708	26449708	+	Frame_Shift_Del	DEL	A	-	-			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr17:26449708delA	uc010crj.3	+	1	750	c.538delA	c.(538-540)aaafs	p.K180fs		NM_016231	NP_057315	Q9UBE8	NLK_HUMAN	Homo sapiens nemo-like kinase (NLK), mRNA.	180	Protein kinase.				Wnt receptor signaling pathway|intracellular protein kinase cascade|negative regulation of Wnt receptor signaling pathway|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|serine phosphorylation of STAT3 protein|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	ATP binding|MAP kinase activity|SH2 domain binding|magnesium ion binding|transcription factor binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(1)	14	all_lung(13;0.000343)|Lung NSC(42;0.00184)			UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		GGTCTCTTGCAAAAGGGTCTT	0.408													---	63	---	---	40	---					
PEG3	5178	broad.mit.edu	37	19	57347474	57347475	+	Splice_Site	DEL	TG	-	-			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr19:57347474_57347475delTG	uc002qnv.2	-	2	146	c.-248_splice	c.e2-1		PEG3_uc010ygr.1_Splice_Site|PEG3_uc010ygq.1_Splice_Site|PEG3_uc002qnr.2_Splice_Site|PEG3_uc010etp.2_Splice_Site|PEG3_uc010ygs.1_Splice_Site|PEG3_uc002qnq.2_Splice_Site|PEG3_uc002qnw.2_Splice_Site|PEG3_uc002qnx.2_Splice_Site|PEG3_uc010etr.2_Splice_Site	NM_006210	NP_001139657	Q9GZU2	PEG3_HUMAN	Homo sapiens paternally expressed 3 (PEG3), transcript variant 1, mRNA.						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)		AAGGCAAAGCTGTAGAGGAAAA	0.470													---	4	---	---	2	---					
JA660597	0	broad.mit.edu	37	Y	10037863	10037863	+	RNA	DEL	C	-	-			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chrY:10037863delC	uc022cjg.1	+	0		c.18delC								Homo sapiens piRNA piR-32678, complete sequence.																		ATCGACACTTCGAACGCACTT	0.552													---	23	---	---	7	---