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	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
LAMA4	3910	broad.mit.edu	37	6	112508668	112508668	+	Missense_Mutation	SNP	G	G	C			TCGA-DJ-A2Q0-01A-11D-A202-08	TCGA-DJ-A2Q0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc53f3d7-7da8-44ad-aee6-b62d4ed382d2	676014d2-8fb4-4ae6-8b7e-9c2585117050	g.chr6:112508668G>C	uc003pvu.2	-	7	1259	c.950C>G	c.(949-951)aCc>aGc	p.T317S	LAMA4_uc003pvv.2_Missense_Mutation_p.T310S|LAMA4_uc003pvt.2_Missense_Mutation_p.T310S	NM_001105206	NP_001098676	Q16363	LAMA4_HUMAN	Homo sapiens laminin, alpha 4 (LAMA4), transcript variant 1, mRNA.	317	Domain II and I.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		GAGGTAGATGGTGGCGTTGAT	0.537000													3	83					0	0	1	0	0
AQP6	363	broad.mit.edu	37	12	50367285	50367285	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A2Q0-01A-11D-A202-08	TCGA-DJ-A2Q0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc53f3d7-7da8-44ad-aee6-b62d4ed382d2	676014d2-8fb4-4ae6-8b7e-9c2585117050	g.chr12:50367285G>A	uc001rvr.1	+	0	1022	c.329G>A	c.(328-330)gGg>gAg	p.G110E	AQP6_uc001rvp.1_Intron|AQP6_uc001rvq.1_Non-coding_Transcript	NM_001652	NP_001643	Q13520	AQP6_HUMAN	Homo sapiens aquaporin 6, kidney specific (AQP6), mRNA.	110					excretion|odontogenesis	integral to plasma membrane|transport vesicle membrane	anion channel activity|water channel activity			endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(2)	13						CAGCTGGTGGGGGCCACGGTG	0.677000													7	29					0	0	1	0	0
OR14I1	401994	broad.mit.edu	37	1	248845498	248845498	+	Silent	SNP	C	C	T			TCGA-DJ-A2Q0-01A-11D-A202-08	TCGA-DJ-A2Q0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc53f3d7-7da8-44ad-aee6-b62d4ed382d2	676014d2-8fb4-4ae6-8b7e-9c2585117050	g.chr1:248845498C>T	uc001ieu.1	-	0	108	c.108G>A	c.(106-108)gtG>gtA	p.V36V		NM_001004734	NP_001004734	A6ND48	O14I1_HUMAN	Homo sapiens olfactory receptor, family 14, subfamily I, member 1 (OR14I1), mRNA.	36			V -> A (in dbSNP:rs4462184).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(4)|large_intestine(2)|lung(24)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	35						TCCCCACCAGCACTGCCAGAT	0.498000													9	41					0	0	1	0	0
LAMA5	3911	broad.mit.edu	37	20	60887079	60887079	+	Missense_Mutation	SNP	G	G	C			TCGA-DJ-A2Q0-01A-11D-A202-08	TCGA-DJ-A2Q0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc53f3d7-7da8-44ad-aee6-b62d4ed382d2	676014d2-8fb4-4ae6-8b7e-9c2585117050	g.chr20:60887079G>C	uc002ycq.3	-	69	9599	c.9532C>G	c.(9532-9534)Cag>Gag	p.Q3178E	LAMA5_uc021wfw.1_Missense_Mutation_p.Q3178E	NM_005560	NP_005551	O15230	LAMA5_HUMAN	Homo sapiens laminin, alpha 5 (LAMA5), mRNA.	3178	Laminin G-like 3.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ACACGGCCCTGCTGCAGGGAC	0.637000													20	51					0	0	1	0	0
TNNC1	7134	broad.mit.edu	37	3	52485804	52485804	+	Silent	SNP	C	C	G			TCGA-DJ-A2Q0-01A-11D-A202-08	TCGA-DJ-A2Q0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc53f3d7-7da8-44ad-aee6-b62d4ed382d2	676014d2-8fb4-4ae6-8b7e-9c2585117050	g.chr3:52485804C>G	uc003deb.3	-	3	299	c.273G>C	c.(271-273)ggG>ggC	p.G91G		NM_003280	NP_003271	P63316	TNNC1_HUMAN	Homo sapiens troponin C type 1 (slow) (TNNC1), mRNA.	91					cardiac muscle contraction|muscle filament sliding|regulation of ATPase activity|regulation of muscle filament sliding speed|ventricular cardiac muscle tissue morphogenesis	cytosol|troponin complex	actin filament binding|calcium ion binding|calcium-dependent protein binding|protein homodimerization activity|troponin I binding|troponin T binding	p.G91W(1)		endometrium(1)|lung(3)|ovary(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00175)|KIRC - Kidney renal clear cell carcinoma(197;0.00198)|OV - Ovarian serous cystadenocarcinoma(275;0.0525)	Bepridil(DB01244)|Dihydroxyaluminium(DB01375)|Levosimendan(DB00922)	CCTCAGATTTCCCTTTGCTGT	0.567000													4	98					0	0	1	0	0
IGFL4	444882	broad.mit.edu	37	19	46543657	46543657	+	Missense_Mutation	SNP	A	A	G			TCGA-DJ-A2Q0-01A-11D-A202-08	TCGA-DJ-A2Q0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc53f3d7-7da8-44ad-aee6-b62d4ed382d2	676014d2-8fb4-4ae6-8b7e-9c2585117050	g.chr19:46543657A>G	uc002pdy.1	-	2	142	c.88T>C	c.(88-90)Tgc>Cgc	p.C30R		NM_001002923	NP_001002923	Q6B9Z1	IGFL4_HUMAN	Homo sapiens IGF-like family member 4 (IGFL4), mRNA.	30						extracellular region				cervix(1)|kidney(1)|lung(1)	3		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.0036)|GBM - Glioblastoma multiforme(486;0.022)|Epithelial(262;0.208)		GCTGGCTGGCATAGCCACAGT	0.602000													4	91					0	0	1	0	0
APBB1	322	broad.mit.edu	37	11	6422860	6422860	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A2Q0-01A-11D-A202-08	TCGA-DJ-A2Q0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc53f3d7-7da8-44ad-aee6-b62d4ed382d2	676014d2-8fb4-4ae6-8b7e-9c2585117050	g.chr11:6422860G>A	uc001mdb.1	-	8	1541	c.1441C>T	c.(1441-1443)Cgc>Tgc	p.R481C	APBB1_uc001mdd.3_Missense_Mutation_p.R261C|APBB1_uc001mdc.1_Missense_Mutation_p.R481C|APBB1_uc010rab.2_Missense_Mutation_p.R8C|APBB1_uc010rad.2_Missense_Mutation_p.R200C	NM_001164	NP_001155	O00213	APBB1_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65) (APBB1), transcript variant 1, mRNA.	483	PID 1.				apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of S phase of mitotic cell cycle|negative regulation of cell growth|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent	cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse	beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding	p.R481L(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		GCCTCACAGCGAAACACGTGG	0.577000													7	84					0	0	1	0	0
JAKMIP2	9832	broad.mit.edu	37	5	147051354	147051354	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DJ-A2Q0-01A-11D-A202-08	TCGA-DJ-A2Q0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc53f3d7-7da8-44ad-aee6-b62d4ed382d2	676014d2-8fb4-4ae6-8b7e-9c2585117050	g.chr5:147051354G>A	uc010jgo.1	-	0	164	c.16C>T	c.(16-18)Cga>Tga	p.R6*	JAKMIP2_uc003loq.1_Nonsense_Mutation_p.R6*|JAKMIP2_uc011dbx.1_Intron|JAKMIP2_uc003lor.1_Nonsense_Mutation_p.R6*	NM_014790	NP_055605	Q96AA8	JKIP2_HUMAN	Homo sapiens janus kinase and microtubule interacting protein 2 (JAKMIP2), mRNA.	6						Golgi apparatus				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCTTATTTCGCCCTTTCTTG	0.458000													11	47					0	0	1	0	0
OTOP2	92736	broad.mit.edu	37	17	72926756	72926756	+	Silent	SNP	C	C	A			TCGA-DJ-A2Q0-01A-11D-A202-08	TCGA-DJ-A2Q0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc53f3d7-7da8-44ad-aee6-b62d4ed382d2	676014d2-8fb4-4ae6-8b7e-9c2585117050	g.chr17:72926756C>A	uc010wrp.2	+	5	1118	c.1026C>A	c.(1024-1026)gtC>gtA	p.V342V		NM_178160	NP_835454	Q7RTS6	OTOP2_HUMAN	Homo sapiens otopetrin 2 (OTOP2), mRNA.	342						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)					CCACCTTGGTCAGCCTGAGCG	0.612000													15	55					0	0	1	0	0
ZNF385D	79750	broad.mit.edu	37	3	21478657	21478657	+	Missense_Mutation	SNP	T	T	C			TCGA-DJ-A2Q0-01A-11D-A202-08	TCGA-DJ-A2Q0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc53f3d7-7da8-44ad-aee6-b62d4ed382d2	676014d2-8fb4-4ae6-8b7e-9c2585117050	g.chr3:21478657T>C	uc003cce.3	-	4	886	c.478A>G	c.(478-480)Act>Gct	p.T160A	ZNF385D_uc010hfb.1_Non-coding_Transcript	NM_024697	NP_078973	Q9H6B1	Z385D_HUMAN	Homo sapiens zinc finger protein 385D (ZNF385D), mRNA.	160	Thr-rich.					nucleus	nucleic acid binding|zinc ion binding			NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						ATTTCCACAGTTGTCGTCGTT	0.428000													14	65					0	0	1	0	0
EPRS	2058	broad.mit.edu	37	1	220198558	220198558	+	Missense_Mutation	SNP	C	C	G			TCGA-DJ-A2Q0-01A-11D-A202-08	TCGA-DJ-A2Q0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc53f3d7-7da8-44ad-aee6-b62d4ed382d2	676014d2-8fb4-4ae6-8b7e-9c2585117050	g.chr1:220198558C>G	uc001hly.1	-	6	936	c.666G>C	c.(664-666)caG>caC	p.Q222H	RNU5F-1_uc021pjd.1_Intron|EPRS_uc010puf.1_5'UTR|EPRS_uc001hlz.1_Missense_Mutation_p.Q222H|EPRS_uc009xdt.1_Missense_Mutation_p.Q23H	NM_004446	NP_004437	P07814	SYEP_HUMAN	Homo sapiens glutamyl-prolyl-tRNA synthetase (EPRS), mRNA.	222	Glutamyl-tRNA synthetase.				glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|RNA binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding			breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Glutamic Acid(DB00142)|L-Proline(DB00172)	CCTGGTAGTGCTGGTTCAGAA	0.318000													3	45					0	0	1	0	0
ICMT	23463	broad.mit.edu	37	1	6291980	6291980	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DJ-A2Q0-01A-11D-A202-08	TCGA-DJ-A2Q0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc53f3d7-7da8-44ad-aee6-b62d4ed382d2	676014d2-8fb4-4ae6-8b7e-9c2585117050	g.chr1:6291980G>T	uc001amk.3	-	3	727	c.654C>A	c.(652-654)taC>taA	p.Y218*	ICMT_uc001aml.3_Nonsense_Mutation_p.Y122*	NM_012405	NP_036537	O60725	ICMT_HUMAN	Homo sapiens isoprenylcysteine carboxyl methyltransferase (ICMT), mRNA.	218					protein targeting to membrane	endoplasmic reticulum membrane|integral to membrane|membrane fraction	protein C-terminal S-isoprenylcysteine carboxyl O-methyltransferase activity			NS(1)|endometrium(2)	3	Ovarian(185;0.0634)	all_cancers(23;5.85e-39)|all_epithelial(116;2.4e-22)|all_lung(118;2.65e-08)|Lung NSC(185;6.45e-07)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000688)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)		Epithelial(90;5.52e-38)|GBM - Glioblastoma multiforme(13;6.51e-32)|OV - Ovarian serous cystadenocarcinoma(86;3.03e-19)|Colorectal(212;7.08e-08)|COAD - Colon adenocarcinoma(227;8.35e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(365;0.00109)|STAD - Stomach adenocarcinoma(132;0.00313)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)		CAATACTCCAGTAAAACCACC	0.363000													14	60					0	0	1	0	0
C10orf28	27291	broad.mit.edu	37	10	99968514	99968514	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DJ-A2Q0-01A-11D-A202-08	TCGA-DJ-A2Q0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc53f3d7-7da8-44ad-aee6-b62d4ed382d2	676014d2-8fb4-4ae6-8b7e-9c2585117050	g.chr10:99968514G>T	uc001kox.4	+	4	993	c.643G>T	c.(643-645)Gag>Tag	p.E215*	C10orf28_uc001kow.4_Nonsense_Mutation_p.E215*|C10orf28_uc001koy.4_Nonsense_Mutation_p.E215*|C10orf28_uc009xvx.3_Nonsense_Mutation_p.E215*|C10orf28_uc009xvy.3_Intron|C10orf28_uc001koz.4_Intron	NM_014472	NP_055287	Q4KMY3	Q4KMY3_HUMAN	Homo sapiens chromosome 10 open reading frame 28 (C10orf28), mRNA.	215							nucleotide binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)	20		Colorectal(252;0.234)		Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)		CAAGGTTTTGGAGATACTATA	0.358000													23	22					0	0	1	0	0
CES5A	221223	broad.mit.edu	37	16	55886942	55886942	+	Splice_Site	SNP	T	T	A			TCGA-DJ-A2Q0-01A-11D-A202-08	TCGA-DJ-A2Q0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc53f3d7-7da8-44ad-aee6-b62d4ed382d2	676014d2-8fb4-4ae6-8b7e-9c2585117050	g.chr16:55886942T>A	uc021tir.1	-	11	1359	c.1213_splice	c.e11-1	p.H405_splice	CES5A_uc002eip.2_Splice_Site_p.H376_splice|CES5A_uc002eio.2_Splice_Site_p.H376_splice|CES5A_uc002eiq.2_Splice_Site_p.H137_splice|CES5A_uc002eir.2_Splice_Site_p.H270_splice	NM_001190158	NP_001177087	Q6NT32	EST5A_HUMAN	Homo sapiens carboxylesterase 5A (CES5A), transcript variant 3, mRNA.	376						extracellular region	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						CGGGATGTGCTGTAAAAATAT	0.458000													5	78					0	0	1	0	0
FOXK2	3607	broad.mit.edu	37	17	80544992	80544992	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A2Q0-01A-11D-A202-08	TCGA-DJ-A2Q0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc53f3d7-7da8-44ad-aee6-b62d4ed382d2	676014d2-8fb4-4ae6-8b7e-9c2585117050	g.chr17:80544992C>T	uc002kfn.3	+	7	1801	c.1630C>T	c.(1630-1632)Cgg>Tgg	p.R544W	FOXK2_uc002kfm.1_Missense_Mutation_p.R544W|FOXK2_uc010diu.3_Intron	NM_004514	NP_004505	Q01167	FOXK2_HUMAN	Homo sapiens forkhead box K2 (FOXK2), mRNA.	544					embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1)	17	Breast(20;0.00106)|all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0371)|BRCA - Breast invasive adenocarcinoma(99;0.0415)			CACTGCCAGCCGGATCATTCA	0.488000													43	82					0	0	1	0	0
ARHGAP36	158763	broad.mit.edu	37	X	130217771	130217771	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A2Q0-01A-11D-A202-08	TCGA-DJ-A2Q0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc53f3d7-7da8-44ad-aee6-b62d4ed382d2	676014d2-8fb4-4ae6-8b7e-9c2585117050	g.chrX:130217771G>A	uc004evz.3	+	3	728	c.383G>A	c.(382-384)cGc>cAc	p.R128H	ARHGAP36_uc004ewa.3_Missense_Mutation_p.R116H|ARHGAP36_uc004ewb.3_Missense_Mutation_p.R97H|ARHGAP36_uc004ewc.3_5'UTR	NM_144967	NP_659404	Q6ZRI8	RHG36_HUMAN	Homo sapiens Rho GTPase activating protein 36 (ARHGAP36), mRNA.	128					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	p.R128C(2)|p.R127S(1)		breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						TTTACCCGCCGCAAGCATCTT	0.562000													36	168					0	0	1	0	0
WDR33	55339	broad.mit.edu	37	2	128477839	128477839	+	Missense_Mutation	SNP	G	G	C			TCGA-DJ-A2Q0-01A-11D-A202-08	TCGA-DJ-A2Q0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc53f3d7-7da8-44ad-aee6-b62d4ed382d2	676014d2-8fb4-4ae6-8b7e-9c2585117050	g.chr2:128477839G>C	uc002tpg.2	-	15	1959	c.1760C>G	c.(1759-1761)cCt>cGt	p.P587R		NM_018383	NP_060853	Q9C0J8	WDR33_HUMAN	Homo sapiens WD repeat domain 33 (WDR33), transcript variant 1, mRNA.	587					postreplication repair|spermatogenesis	collagen|nucleus	protein binding			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		TCCTGGAAAAGGCTGGGGTCC	0.493000													5	115					0	0	1	0	0
ST8SIA1	6489	broad.mit.edu	37	12	22487009	22487009	+	Missense_Mutation	SNP	T	T	C			TCGA-DJ-A2Q0-01A-11D-A202-08	TCGA-DJ-A2Q0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc53f3d7-7da8-44ad-aee6-b62d4ed382d2	676014d2-8fb4-4ae6-8b7e-9c2585117050	g.chr12:22487009T>C	uc001rfo.4	-	0	640	c.158A>G	c.(157-159)aAc>aGc	p.N53S	ST8SIA1_uc009zix.3_5'UTR	NM_003034	NP_003025	Q92185	SIA8A_HUMAN	Homo sapiens ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1 (ST8SIA1), mRNA.	53					glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25						CTCTTTCTCGTTGGGCAGCCG	0.662000													4	130					0	0	1	0	0
CASC4	113201	broad.mit.edu	37	15	44581275	44581275	+	Silent	SNP	C	C	T			TCGA-DJ-A2Q0-01A-11D-A202-08	TCGA-DJ-A2Q0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc53f3d7-7da8-44ad-aee6-b62d4ed382d2	676014d2-8fb4-4ae6-8b7e-9c2585117050	g.chr15:44581275C>T	uc001ztp.3	+	0	367	c.48C>T	c.(46-48)ctC>ctT	p.L16L	CASC4_uc001ztq.3_Silent_p.L16L|CASC4_uc010bdu.2_Non-coding_Transcript|CASC4_uc001zto.2_Silent_p.L16L	NM_138423	NP_612432	Q6P4E1	CASC4_HUMAN	Homo sapiens cancer susceptibility candidate 4 (CASC4), transcript variant 1, mRNA.	16						integral to membrane				NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(2)	17		all_cancers(109;1.69e-13)|all_epithelial(112;3.94e-11)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.027)		all cancers(107;2.91e-20)|GBM - Glioblastoma multiforme(94;1.57e-06)|COAD - Colon adenocarcinoma(120;0.217)|Colorectal(105;0.237)		TGCCCTCTCTCGTGCTGGTGG	0.677000													42	58					0	0	1	0	0
CYP2A13	1553	broad.mit.edu	37	19	41594528	41594528	+	Missense_Mutation	SNP	C	C	G			TCGA-DJ-A2Q0-01A-11D-A202-08	TCGA-DJ-A2Q0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc53f3d7-7da8-44ad-aee6-b62d4ed382d2	676014d2-8fb4-4ae6-8b7e-9c2585117050	g.chr19:41594528C>G	uc002opt.3	+	0	161	c.152C>G	c.(151-153)aCa>aGa	p.T51R		NM_000766	NP_000757	Q16696	CP2AD_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily A, polypeptide 13 (CYP2A13), mRNA.	51					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding			breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42					Clomipramine(DB01242)|Nicotine(DB00184)	CAGCTGAACACAGAGCAGATG	0.602000													11	121					0	0	1	0	0
FASTK	10922	broad.mit.edu	37	7	150775088	150775088	+	Missense_Mutation	SNP	C	C	A			TCGA-DJ-A2Q0-01A-11D-A202-08	TCGA-DJ-A2Q0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc53f3d7-7da8-44ad-aee6-b62d4ed382d2	676014d2-8fb4-4ae6-8b7e-9c2585117050	g.chr7:150775088C>A	uc003wix.1	-	4	1015	c.917G>T	c.(916-918)cGg>cTg	p.R306L	AK296065_uc011kvf.2_5'Flank|FASTK_uc003wiw.1_Missense_Mutation_p.R67L|FASTK_uc003wiy.1_Missense_Mutation_p.R165L|FASTK_uc003wiz.1_Missense_Mutation_p.R279L|FASTK_uc003wja.1_3'UTR	NM_006712	NP_006703	Q14296	FASTK_HUMAN	Homo sapiens Fas-activated serine/threonine kinase (FASTK), transcript variant 1, mRNA.	306					apoptosis|induction of apoptosis by extracellular signals|regulation of RNA splicing		ATP binding|Fas-activated serine/threonine kinase activity|protein binding			lung(4)|stomach(2)	6			OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.0718)|Lung(243;0.138)		CCCTGCTTCCCGAGCCAGGAT	0.577000													4	181					0	0	1	0	0
GNAL	2774	broad.mit.edu	37	18	11752905	11752905	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A2Q0-01A-11D-A202-08	TCGA-DJ-A2Q0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc53f3d7-7da8-44ad-aee6-b62d4ed382d2	676014d2-8fb4-4ae6-8b7e-9c2585117050	g.chr18:11752905G>A	uc002kqc.2	+	1	857	c.430G>A	c.(430-432)Gtc>Atc	p.V144I	GNAL_uc002kqd.2_Missense_Mutation_p.V67I|GNAL_uc010dkz.2_Missense_Mutation_p.V67I	NM_182978	NP_892023	P38405	GNAL_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type (GNAL), transcript variant 1, mRNA.	67					activation of adenylate cyclase activity by dopamine receptor signaling pathway|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception of smell|synaptic transmission	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|adenylate cyclase activity|signal transducer activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1)	12						GATCCTGCACGTCAATGGGTT	0.468000													14	22					0	0	1	0	0
AP1G1	164	broad.mit.edu	37	16	71768593	71768593	+	Silent	SNP	G	G	C			TCGA-DJ-A2Q0-01A-11D-A202-08	TCGA-DJ-A2Q0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc53f3d7-7da8-44ad-aee6-b62d4ed382d2	676014d2-8fb4-4ae6-8b7e-9c2585117050	g.chr16:71768593G>C	uc002fbb.3	-	24	3166	c.2355C>G	c.(2353-2355)ctC>ctG	p.L785L	AP1G1_uc021tkz.1_Silent_p.L550L|AP1G1_uc010cgg.3_Silent_p.L762L|AP1G1_uc002faz.3_Silent_p.L179L|AP1G1_uc021tky.1_Silent_p.L765L	NM_001128	NP_001119	O43747	AP1G1_HUMAN	Homo sapiens adaptor-related protein complex 1, gamma 1 subunit (AP1G1), transcript variant 2, mRNA.	762	GAE.				endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	Golgi membrane|clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|lysosomal membrane|recycling endosome	kinesin binding|protein transporter activity			breast(1)|endometrium(8)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|urinary_tract(1)	28		Ovarian(137;0.125)				TAGGAGACAAGAGCTGCAGCT	0.463000													15	316					0	0	1	0	0
FSCB	84075	broad.mit.edu	37	14	44973729	44973729	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A2Q0-01A-11D-A202-08	TCGA-DJ-A2Q0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc53f3d7-7da8-44ad-aee6-b62d4ed382d2	676014d2-8fb4-4ae6-8b7e-9c2585117050	g.chr14:44973729C>T	uc001wvn.3	-	0	2771	c.2462G>A	c.(2461-2463)cGt>cAt	p.R821H		NM_032135	NP_115511	Q5H9T9	FSCB_HUMAN	Homo sapiens fibrous sheath CABYR binding protein (FSCB), mRNA.	821						cilium				breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		TTCAGGAGGACGTTGTTTTAA	0.388000													4	52					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237758830	237758830	+	Missense_Mutation	SNP	C	C	A			TCGA-DJ-A2Q0-01A-11D-A202-08	TCGA-DJ-A2Q0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc53f3d7-7da8-44ad-aee6-b62d4ed382d2	676014d2-8fb4-4ae6-8b7e-9c2585117050	g.chr1:237758830C>A	uc001hyl.1	+	33	4589	c.4469C>A	c.(4468-4470)gCg>gAg	p.A1490E		NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	1490	4 X approximate repeats.|B30.2/SPRY 3.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.A1488V(1)		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)			ATGGTATGTGCGGGTGAGAGC	0.463000													8	30					0	0	1	0	0
SLITRK3	22865	broad.mit.edu	37	3	164906055	164906055	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A2Q0-01A-11D-A202-08	TCGA-DJ-A2Q0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc53f3d7-7da8-44ad-aee6-b62d4ed382d2	676014d2-8fb4-4ae6-8b7e-9c2585117050	g.chr3:164906055C>T	uc003fej.4	-	1	3008	c.2564G>A	c.(2563-2565)gGa>gAa	p.G855E	SLITRK3_uc003fek.3_Missense_Mutation_p.G855E|SLITRK3_uc021xgy.1_Missense_Mutation_p.G855E	NM_014926	NP_055741	O94933	SLIK3_HUMAN	Homo sapiens SLIT and NTRK-like family, member 3 (SLITRK3), mRNA.	855						integral to membrane		p.G854A(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						TGCCAAGTCTCCCCCAGTTCC	0.567000										HNSCC(40;0.11)			48	69					0	0	1	0	0
NSUN7	79730	broad.mit.edu	37	4	40776343	40776343	+	Missense_Mutation	SNP	A	A	G	rs148671827		TCGA-DJ-A2Q0-01A-11D-A202-08	TCGA-DJ-A2Q0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc53f3d7-7da8-44ad-aee6-b62d4ed382d2	676014d2-8fb4-4ae6-8b7e-9c2585117050	g.chr4:40776343A>G	uc003gvj.4	+	4	1045	c.550A>G	c.(550-552)Att>Gtt	p.I184V	NSUN7_uc003gvh.2_Missense_Mutation_p.I184V|NSUN7_uc003gvi.4_Missense_Mutation_p.I184V	NM_024677	NP_078953			Homo sapiens NOP2/Sun domain family, member 7 (NSUN7), mRNA.											NS(1)|autonomic_ganglia(1)|cervix(1)|large_intestine(1)|lung(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						TGCCCTTTCAATTTACCACAT	0.373000													4	82					0	0	1	0	0
RINT1	60561	broad.mit.edu	37	7	105190850	105190850	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A2Q0-01A-11D-A202-08	TCGA-DJ-A2Q0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc53f3d7-7da8-44ad-aee6-b62d4ed382d2	676014d2-8fb4-4ae6-8b7e-9c2585117050	g.chr7:105190850G>A	uc003vda.1	+	8	1481	c.1250G>A	c.(1249-1251)gGc>gAc	p.G417D	RINT1_uc010ljj.1_5'UTR	NM_021930	NP_068749	Q6NUQ1	RINT1_HUMAN	Homo sapiens RAD50 interactor 1 (RINT1), mRNA.	417	RINT1/TIP20.				G2/M transition DNA damage checkpoint|cell cycle|protein transport|vesicle-mediated transport	endoplasmic reticulum membrane	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						AGTGTTCATGGCTATCCTGGC	0.418000													12	242					0	0	1	0	0
EED	8726	broad.mit.edu	37	11	85977149	85977149	+	Missense_Mutation	SNP	A	A	G			TCGA-DJ-A2Q0-01A-11D-A202-08	TCGA-DJ-A2Q0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc53f3d7-7da8-44ad-aee6-b62d4ed382d2	676014d2-8fb4-4ae6-8b7e-9c2585117050	g.chr11:85977149A>G	uc001pbr.3	+	7	1217	c.751A>G	c.(751-753)Ata>Gta	p.I251V	EED_uc010rtm.2_Missense_Mutation_p.I251V|EED_uc001pbp.3_Missense_Mutation_p.I251V|EED_uc001pbq.3_Missense_Mutation_p.I251V|EED_uc010rtn.1_Non-coding_Transcript	NM_003797	NP_003788	O75530	EED_HUMAN	Homo sapiens embryonic ectoderm development (EED), transcript variant 1, mRNA.	251	Interaction with EZH2 (By similarity).|Required for interaction with the matrix protein MA of HIV-1.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	histone methyltransferase activity|identical protein binding			haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	21		Acute lymphoblastic leukemia(157;7.24e-07)|all_hematologic(158;0.00092)				GGGTGAAAAAATAATGTCCTG	0.284000													5	86					0	0	1	0	0
MCM3	4172	broad.mit.edu	37	6	52129524	52129524	+	Silent	SNP	G	G	A	rs111523955		TCGA-DJ-A2Q0-01A-11D-A202-08	TCGA-DJ-A2Q0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc53f3d7-7da8-44ad-aee6-b62d4ed382d2	676014d2-8fb4-4ae6-8b7e-9c2585117050	g.chr6:52129524G>A	uc003pan.1	-	16	2399	c.2289C>T	c.(2287-2289)atC>atT	p.I763I	MCM3_uc011dwu.1_Silent_p.I717I	NM_002388	NP_002379	P25205	MCM3_HUMAN	Homo sapiens minichromosome maintenance complex component 3 (MCM3), mRNA.	763					DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint	MCM complex|alpha DNA polymerase:primase complex|centrosome|perinuclear region of cytoplasm	ATP binding|DNA binding|helicase activity|protein binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Lung NSC(77;0.0931)					GATTCATGCCGATTGACTGCG	0.527000													70	128					0	0	1	0	0
PTPRZ1	5803	broad.mit.edu	37	7	121668634	121668634	+	Missense_Mutation	SNP	T	T	G			TCGA-DJ-A2Q0-01A-11D-A202-08	TCGA-DJ-A2Q0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc53f3d7-7da8-44ad-aee6-b62d4ed382d2	676014d2-8fb4-4ae6-8b7e-9c2585117050	g.chr7:121668634T>G	uc003vjy.3	+	13	5412	c.5017T>G	c.(5017-5019)Tta>Gta	p.L1673V	PTPRZ1_uc011knt.2_Missense_Mutation_p.L813V|PTPRZ1_uc003vjz.3_Missense_Mutation_p.L813V	NM_002851	NP_002842	P23471	PTPRZ_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor-type, Z polypeptide 1 (PTPRZ1), transcript variant 1, mRNA.	1673					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						ACACTTTTACTTAGAGGACAG	0.383000													7	79					0	0	1	0	0
TLR7	51284	broad.mit.edu	37	X	12885601	12885601	+	Splice_Site	SNP	T	T	G			TCGA-DJ-A2Q0-01A-11D-A202-08	TCGA-DJ-A2Q0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc53f3d7-7da8-44ad-aee6-b62d4ed382d2	676014d2-8fb4-4ae6-8b7e-9c2585117050	g.chrX:12885601T>G	uc004cvc.3	+	2	42	c.-97_splice	c.e2-1			NM_016562	NP_057646	Q9NYK1	TLR7_HUMAN	Homo sapiens toll-like receptor 7 (TLR7), mRNA.						I-kappaB phosphorylation|cellular response to mechanical stimulus|defense response to virus|inflammatory response|innate immune response|positive regulation of NF-kappaB import into nucleus|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|siRNA binding|single-stranded RNA binding|transmembrane receptor activity			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Imiquimod(DB00724)	TTCTCTTAGTTGATGCTATTG	0.393000													39	134					0	0	1	0	0
ADCY8	114	broad.mit.edu	37	8	131848585	131848585	+	Silent	SNP	C	C	A			TCGA-DJ-A2Q0-01A-11D-A202-08	TCGA-DJ-A2Q0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc53f3d7-7da8-44ad-aee6-b62d4ed382d2	676014d2-8fb4-4ae6-8b7e-9c2585117050	g.chr8:131848585C>A	uc003ytd.4	-	11	2869	c.2613G>T	c.(2611-2613)ctG>ctT	p.L871L	ADCY8_uc010mds.3_Silent_p.L740L	NM_001115	NP_001106	P40145	ADCY8_HUMAN	Homo sapiens adenylate cyclase 8 (brain) (ADCY8), mRNA.	871					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)			TCTCAGTGAGCAGGGCATAGA	0.557000										HNSCC(32;0.087)			26	25					0	0	1	0	0
DEFB118	117285	broad.mit.edu	37	20	29960791	29960791	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DJ-A2Q0-01A-11D-A202-08	TCGA-DJ-A2Q0-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc53f3d7-7da8-44ad-aee6-b62d4ed382d2	676014d2-8fb4-4ae6-8b7e-9c2585117050	g.chr20:29960791C>T	uc002wvr.3	+	1	223	c.190C>T	c.(190-192)Cga>Tga	p.R64*		NM_054112	NP_473453	Q96PH6	DB118_HUMAN	Homo sapiens defensin, beta 118 (DEFB118), mRNA.	64					cell-matrix adhesion|defense response to bacterium|innate immune response|spermatogenesis	extracellular region		p.R64L(1)		breast(1)|endometrium(1)|lung(7)|ovary(3)|pancreas(1)|prostate(1)	14	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			AGACCACAGGCGAGTTCCTGC	0.438000													9	110					0	0	1	0	0
