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
SPRY3	10251	broad.mit.edu	37	X	155004369	155004369	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chrX:155004369C>T	ENST00000302805.2	+	2	1267	c.836C>T	c.(835-837)cCc>cTc	p.P279L		NM_005840.1	NP_005831.1	O43610	SPY3_HUMAN	sprouty homolog 3 (Drosophila)	279					multicellular organismal development|regulation of signal transduction	cytoplasm|membrane						all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					GGTAGTGCACCCTTCCCCAAG	0.542000													51	62					0	0	1	0	0
NLRP10	338322	broad.mit.edu	37	11	7982172	7982172	+	Silent	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr11:7982172C>T	ENST00000328600.2	-	2	1148	c.987G>A	c.(985-987)acG>acA	p.T329T		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	329	NACHT.						ATP binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GCTTCTCATCCGTGAAATAGG	0.502000													44	70					0	0	1	0	0
PROM2	150696	broad.mit.edu	37	2	95944791	95944791	+	Silent	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr2:95944791C>T	ENST00000317620.9	+	10	1306	c.1173C>T	c.(1171-1173)ttC>ttT	p.F391F	PROM2_ENST00000403131.2_Silent_p.F391F|PROM2_ENST00000317668.4_Silent_p.F391F|PROM2_ENST00000542147.1_Silent_p.F391F	NM_001165978.1	NP_001159450.1	Q8N271	PROM2_HUMAN	prominin 2	391						apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						CTGAAGGGTTCCCGGGCTTGG	0.647000													15	21					0	0	1	0	0
PRSS50	29122	broad.mit.edu	37	3	46757139	46757139	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr3:46757139G>A	ENST00000460241.1	-	8	2026	c.356C>T	c.(355-357)gCc>gTc	p.A119V	PRSS50_ENST00000315170.7_Missense_Mutation_p.A119V			Q9UI38	TSP50_HUMAN	protease, serine, 50	119	Peptidase S1.				proteolysis	endoplasmic reticulum	serine-type endopeptidase activity|threonine-type endopeptidase activity	p.A119V(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	11						CCGAGCCACGGCTTCTGGGTC	0.632000													6	11					0	0	1	0	0
JAKMIP3	282973	broad.mit.edu	37	10	133948659	133948659	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr10:133948659G>A	ENST00000298622.4	+	4	1102	c.964G>A	c.(964-966)Gag>Aag	p.E322K		NM_001105521.2	NP_001098991.1			Janus kinase and microtubule interacting protein 3											breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		AGAGAGGAATGAGCTGGTGAG	0.567000													14	17					0	0	1	0	0
KIRREL2	84063	broad.mit.edu	37	19	36349665	36349665	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr19:36349665C>T	ENST00000360202.5	+	4	619	c.421C>T	c.(421-423)Cct>Tct	p.P141S	KIRREL2_ENST00000592409.1_Missense_Mutation_p.P141S|NPHS1_ENST00000591817.1_Intron|KIRREL2_ENST00000586102.2_Missense_Mutation_p.P141S|KIRREL2_ENST00000347900.6_Missense_Mutation_p.P91S|KIRREL2_ENST00000262625.7_Missense_Mutation_p.P141S	NM_032123.5|NM_199180.2	NP_115499.4|NP_954649.2	Q6UWL6	KIRR2_HUMAN	kin of IRRE like 2 (Drosophila)	141	Ig-like C2-type 2.				cell adhesion	integral to membrane|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TGCTGGAGTTCCTGCGAACCT	0.612000													33	58					0	0	1	0	0
PRKCQ	5588	broad.mit.edu	37	10	6527216	6527216	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr10:6527216C>T	ENST00000263125.5	-	10	1015	c.916G>A	c.(916-918)Gat>Aat	p.D306N	PRKCQ_ENST00000397176.2_Missense_Mutation_p.D306N|PRKCQ_ENST00000539722.1_Missense_Mutation_p.D181N	NM_006257.3	NP_006248.1	Q04759	KPCT_HUMAN	protein kinase C, theta	306			D -> V (in dbSNP:rs45590231).		axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45						TGTTCAGTATCTCTTAAGCAG	0.512000													50	72					0	0	1	0	0
MIR516A2	574499	broad.mit.edu	37	19	54264410	54264410	+	RNA	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr19:54264410G>A	ENST00000384888.1	+	0	24					NR_030221.1																						CCTTCTCGAGGAAAGAAGCAC	0.403000													38	71					0	0	1	0	0
IQSEC2	23096	broad.mit.edu	37	X	53277358	53277358	+	Silent	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chrX:53277358G>A	ENST00000396435.3	-	7	2720	c.2520C>T	c.(2518-2520)ttC>ttT	p.F840F	IQSEC2_ENST00000375368.5_Silent_p.F830F|IQSEC2_ENST00000375365.2_Silent_p.F635F	NM_001111125.2	NP_001104595.1	Q5JU85	IQEC2_HUMAN	IQ motif and Sec7 domain 2	830	SEC7.				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(4)|skin(1)	29						TATGGGACTGGAACTTCCGGA	0.572000													10	12					0	0	1	0	0
RBM12	10137	broad.mit.edu	37	20	34240839	34240839	+	Silent	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr20:34240839G>A	ENST00000374114.3	-	3	2669	c.2406C>T	c.(2404-2406)ccC>ccT	p.P802P	CPNE1_ENST00000397446.1_Intron|RBM12_ENST00000359646.1_Silent_p.P802P|CPNE1_ENST00000397443.1_Intron|CPNE1_ENST00000317619.3_Intron|CPNE1_ENST00000397445.1_Intron|RBM12_ENST00000374104.3_Silent_p.P802P|CPNE1_ENST00000352393.4_Intron|CPNE1_ENST00000317677.5_Intron|CPNE1_ENST00000397442.1_Intron	NM_001198838.1|NM_001198840.1|NM_006047.5	NP_001185767.1|NP_001185769.1|NP_006038.2	Q9NTZ6	RBM12_HUMAN	RNA binding motif protein 12	802	Gly-rich.|Pro-rich.					nucleus	nucleotide binding|protein binding|RNA binding			breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			CAAACCCCGGGGGACCGCCTA	0.632000													22	31					0	0	1	0	0
CYP4F2	8529	broad.mit.edu	37	19	16000359	16000359	+	Silent	SNP	G	G	A	rs147434380		TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr19:16000359G>A	ENST00000221700.5	-	7	887	c.792C>T	c.(790-792)caC>caT	p.H264H	CYP4F2_ENST00000592328.1_Silent_p.H264H|CYP4F2_ENST00000011989.7_Silent_p.H115H	NM_001082.3	NP_001073.3	P78329	CP4F2_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 2	264					leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding			NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						CTGTGAAGTCGTGCACCAGGC	0.547000													59	71					0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21228467	21228467	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr2:21228467A>G	ENST00000233242.1	-	26	11400	c.11273T>C	c.(11272-11274)gTt>gCt	p.V3758A		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	3758					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GCACGATGGAACCTGAAGATC	0.393000													70	174					0	0	1	0	0
ATR	545	broad.mit.edu	37	3	142269130	142269130	+	Silent	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr3:142269130G>A	ENST00000350721.4	-	14	2941	c.2820C>T	c.(2818-2820)tcC>tcT	p.S940S	ATR_ENST00000383101.3_Silent_p.S876S	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related	940					cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						TAGAGTGAAGGGATTCTACCA	0.383000								Other conserved DNA damage response genes					41	49					0	0	1	0	0
PRKCB	5579	broad.mit.edu	37	16	24226084	24226084	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr16:24226084G>A	ENST00000303531.7	+	17	2121	c.1969G>A	c.(1969-1971)Gaa>Aaa	p.E657K	PRKCB_ENST00000321728.7_Intron	NM_002738.6	NP_002729.2	P05771	KPCB_HUMAN	protein kinase C, beta	658	AGC-kinase C-terminal.				apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Vitamin E(DB00163)	ATCAGAATTCGAAGGATTTTC	0.428000													35	66					0	0	1	0	0
TMPRSS7	344805	broad.mit.edu	37	3	111766770	111766770	+	Silent	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr3:111766770C>T	ENST00000452346.2	+	7	918	c.915C>T	c.(913-915)acC>acT	p.T305T	TMPRSS7_ENST00000419127.1_Silent_p.T179T			Q7RTY8	TMPS7_HUMAN	transmembrane protease, serine 7	305	CUB 1.				proteolysis	integral to membrane|plasma membrane	serine-type endopeptidase activity			breast(2)|endometrium(6)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						ACTCCCTGACCATTTACGACT	0.473000													31	36					0	0	1	0	0
MECOM	2122	broad.mit.edu	37	3	169099056	169099056	+	Silent	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr3:169099056C>T	ENST00000494292.1	-	2	391	c.294G>A	c.(292-294)agG>agA	p.R98R	MECOM_ENST00000485957.1_5'UTR	NM_004991.3	NP_004982.2	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	98							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						CTTCGATCTTCCTTTTGGTCC	0.463000													35	58					0	0	1	0	0
MMP3	4314	broad.mit.edu	37	11	102713279	102713279	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr11:102713279C>T	ENST00000299855.5	-	3	638	c.382G>A	c.(382-384)Gat>Aat	p.D128N		NM_002422.3	NP_002413.1	P08254	MMP3_HUMAN	matrix metallopeptidase 3 (stromelysin 1, progelatinase)	128					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0142)	Marimastat(DB00786)|Simvastatin(DB00641)	TCAACAGCATCTTTTGGCAAA	0.378000													35	15					0	0	1	0	0
LIN28B	389421	broad.mit.edu	37	6	105526452	105526452	+	Missense_Mutation	SNP	G	G	C			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr6:105526452G>C	ENST00000345080.4	+	4	750	c.547G>C	c.(547-549)Gaa>Caa	p.E183Q		NM_001004317.3	NP_001004317.1	Q6ZN17	LN28B_HUMAN	lin-28 homolog B (C. elegans)	183					miRNA catabolic process|pre-miRNA processing|regulation of transcription, DNA-dependent|RNA 3'-end processing	cytoplasm|nucleus	DNA binding|protein binding|RNA binding|zinc ion binding			large_intestine(1)|lung(10)|ovary(1)	12		all_cancers(87;0.00346)|Acute lymphoblastic leukemia(125;2.26e-08)|all_hematologic(75;2.79e-06)|all_epithelial(87;0.204)				ACAGGAAGCAGAATCCCAGCC	0.542000													24	33					0	0	1	0	0
TRBV9	28586	broad.mit.edu	37	7	142239650	142239650	+	RNA	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr7:142239650C>T	ENST00000390363.2	-	0	276																											AAGAATGTTTCCTTTTGCTCT	0.488000													31	45					0	0	1	0	0
WIZ	58525	broad.mit.edu	37	19	15538162	15538162	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr19:15538162G>A	ENST00000389282.4	-	6	3496	c.3283C>T	c.(3283-3285)Cgg>Tgg	p.R1095W	WIZ_ENST00000599910.1_Missense_Mutation_p.R412W|WIZ_ENST00000545156.1_Missense_Mutation_p.R409W|WIZ_ENST00000263381.6_Missense_Mutation_p.R238W|WIZ_ENST00000599686.2_Missense_Mutation_p.R279W			O95785	WIZ_HUMAN	widely interspaced zinc finger motifs	1095						nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	24						CCACCAGGCCGAGACTGGGTC	0.667000													13	21					0	0	1	0	0
CAMSAP3	57662	broad.mit.edu	37	19	7675788	7675788	+	Silent	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr19:7675788C>T	ENST00000446248.2	+	10	1202	c.1101C>T	c.(1099-1101)gcC>gcT	p.A367A	CAMSAP3_ENST00000160298.4_Silent_p.A340A	NM_001080429.2	NP_001073898.1	Q9P1Y5	CAMP3_HUMAN	calmodulin regulated spectrin-associated protein family, member 3	340					epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance	cytoplasm|microtubule|zonula adherens	microtubule minus-end binding			cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						GCACTGAGGCCTCCCCACCTC	0.682000													26	24					0	0	1	0	0
DMRT3	58524	broad.mit.edu	37	9	990639	990639	+	Silent	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr9:990639C>T	ENST00000190165.2	+	2	1091	c.1053C>T	c.(1051-1053)ccC>ccT	p.P351P		NM_021240.2	NP_067063.1	Q9NQL9	DMRT3_HUMAN	doublesex and mab-3 related transcription factor 3	351					cell differentiation|multicellular organismal development|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)		Lung(218;0.0196)		ACGTTGTCCCCAGTCCCTTGG	0.587000													22	9					0	0	1	0	0
OR5AR1	219493	broad.mit.edu	37	11	56431785	56431785	+	Silent	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr11:56431785C>T	ENST00000302969.2	+	1	648	c.624C>T	c.(622-624)ttC>ttT	p.F208F		NM_001004730.1	NP_001004730.1	Q8NGP9	O5AR1_HUMAN	olfactory receptor, family 5, subfamily AR, member 1 (gene/pseudogene)	208					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1)	26						TCATTGAATTCAGCACCATCC	0.473000													55	71					0	0	1	0	0
COCH	1690	broad.mit.edu	37	14	31353845	31353845	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr14:31353845G>A	ENST00000460581.2	+	7	926	c.380G>A	c.(379-381)gGg>gAg	p.G127E	COCH_ENST00000382493.4_Missense_Mutation_p.G46E|RP11-829H16.3_ENST00000555108.1_RNA|COCH_ENST00000475087.1_Missense_Mutation_p.G239E|RP11-829H16.3_ENST00000555421.1_RNA|COCH_ENST00000396618.3_Missense_Mutation_p.G239E|COCH_ENST00000216361.4_Missense_Mutation_p.G239E			O43405	COCH_HUMAN	cochlin	239					sensory perception of sound	proteinaceous extracellular matrix				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|pancreas(1)|skin(3)	19	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.00645)		GGTTTCAGAGGGGGTAATTCC	0.353000													16	26					0	0	1	0	0
ERBB4	2066	broad.mit.edu	37	2	212568865	212568865	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr2:212568865G>A	ENST00000342788.4	-	11	1563	c.1253C>T	c.(1252-1254)tCt>tTt	p.S418F	ERBB4_ENST00000436443.1_Missense_Mutation_p.S418F|ERBB4_ENST00000402597.1_Missense_Mutation_p.S418F	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	418					cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		CACCAGGTTAGAAAAAACACT	0.388000										TSP Lung(8;0.080)			38	40					0	0	1	0	0
C2orf71	388939	broad.mit.edu	37	2	29296694	29296694	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr2:29296694C>T	ENST00000331664.5	-	1	433	c.434G>A	c.(433-435)tGg>tAg	p.W145*		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	145					response to stimulus|visual perception	photoreceptor outer segment				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						TGTCCTTTTCCATTTGGAAGT	0.493000													60	94					0	0	1	0	0
MRPL21	219927	broad.mit.edu	37	11	68664015	68664015	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr11:68664015G>A	ENST00000567045.1	-	4	344	c.109C>T	c.(109-111)Ctt>Ttt	p.L37F	MRPL21_ENST00000362034.2_Missense_Mutation_p.L122F|MRPL21_ENST00000450904.2_Missense_Mutation_p.L37F			Q7Z2W9	RM21_HUMAN	mitochondrial ribosomal protein L21	122					translation	mitochondrion|ribosome	RNA binding|structural constituent of ribosome			large_intestine(1)|lung(6)|prostate(1)	8			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			CCACACGCAAGGTCTAGTTCA	0.537000													53	390					0	0	1	0	0
HERC2P3	283755	broad.mit.edu	37	15	20588632	20588632	+	RNA	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr15:20588632C>T	ENST00000428453.1	-	0	4118																				central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						ACACTGAGTTCATTCTTCTTA	0.408000													15	110					0	0	1	0	0
METAP1D	254042	broad.mit.edu	37	2	172926379	172926379	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr2:172926379C>T	ENST00000315796.4	+	2	581	c.194C>T	c.(193-195)cCt>cTt	p.P65L	METAP1D_ENST00000488581.1_3'UTR	NM_199227.1	NP_954697.1	Q6UB28	AMP1D_HUMAN	methionyl aminopeptidase type 1D (mitochondrial)	65					N-terminal protein amino acid modification|peptidyl-methionine modification|proteolysis	mitochondrion	aminopeptidase activity|metal ion binding|metalloexopeptidase activity			NS(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)	8						CATCCGGTTCCTAAGGTACTG	0.388000													103	147					0	0	1	0	0
FBXO40	51725	broad.mit.edu	37	3	121341459	121341459	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr3:121341459C>T	ENST00000338040.4	+	3	1597	c.1183C>T	c.(1183-1185)Ctc>Ttc	p.L395F		NM_016298.3	NP_057382.2	Q9UH90	FBX40_HUMAN	F-box protein 40	395					muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		CAAATCAGATCTCATCAAGAC	0.478000													41	58					0	0	1	0	0
SH3TC1	54436	broad.mit.edu	37	4	8235122	8235122	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr4:8235122G>A	ENST00000539824.1	+	14	3310	c.2936G>A	c.(2935-2937)cGa>cAa	p.R979Q	SH3TC1_ENST00000245105.3_Missense_Mutation_p.R1055Q			Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	1055							binding			NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						TACACCAAACGAAGTCTGGGG	0.542000													13	10					0	0	1	0	0
SPATA16	83893	broad.mit.edu	37	3	172834933	172834933	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr3:172834933C>A	ENST00000351008.3	-	2	772	c.589G>T	c.(589-591)Gga>Tga	p.G197*		NM_031955.5	NP_114161.3	Q9BXB7	SPT16_HUMAN	spermatogenesis associated 16	197					cell differentiation|multicellular organismal development|spermatogenesis	Golgi apparatus	binding			breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			CTGAACTGTCCTGCTGCCAAG	0.408000													55	81					2.23044e-30	2.25324e-30	1	1	0
CDH9	1007	broad.mit.edu	37	5	26890537	26890537	+	Splice_Site	SNP	T	T	C			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr5:26890537T>C	ENST00000231021.4	-	8	1562	c.1390_splice	c.e8+1	p.N464_splice		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	464	Cadherin 4.				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						TCCAACTTACTTATTTCTGTG	0.388000													30	55					0	0	1	0	0
CHL1	10752	broad.mit.edu	37	3	391186	391186	+	Silent	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr3:391186C>T	ENST00000256509.2	+	10	1635	c.993C>T	c.(991-993)ttC>ttT	p.F331F	CHL1_ENST00000397491.2_Silent_p.F315F	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	O00533	CHL1_HUMAN	cell adhesion molecule L1-like	315	Ig-like C2-type 4.				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		CCAGCAATTTCTTGGGAACAG	0.393000													61	83					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113649061	113649061	+	Silent	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr8:113649061G>A	ENST00000297405.5	-	22	3944	c.3700C>T	c.(3700-3702)Ctg>Ttg	p.L1234L	CSMD3_ENST00000455883.2_Silent_p.L1130L|CSMD3_ENST00000352409.3_Silent_p.L1234L|CSMD3_ENST00000343508.3_Silent_p.L1194L	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1234	Sushi 6.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CACCTTGGCAGAGGTGCACTC	0.498000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			19	13					0	0	1	0	0
RP11-159L20.2	0	broad.mit.edu	37	14	31290993	31290993	+	RNA	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr14:31290993G>A	ENST00000554665.1	-	0	208																											GATCAAGTTTGAAAAGAGGTA	0.393000													5	10					0	0	1	0	0
CTD-3074O7.11	0	broad.mit.edu	37	11	66291262	66291262	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr11:66291262C>T	ENST00000419755.3	+	11	1208	c.1130C>T	c.(1129-1131)tCc>tTc	p.S377F	BBS1_ENST00000529766.1_3'UTR|BBS1_ENST00000393994.2_Intron|BBS1_ENST00000455748.2_Missense_Mutation_p.S243F|ZDHHC24_ENST00000526986.1_Intron|BBS1_ENST00000318312.7_Missense_Mutation_p.S340F																							GAGCAGCATTCCCGGGGCCTG	0.632000													17	111					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9067908	9067908	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr19:9067908G>A	ENST00000397910.4	-	3	19741	c.19538C>T	c.(19537-19539)tCc>tTc	p.S6513F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6515	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						AGACAGAAGGGAAGAGGAAGA	0.473000													16	25					0	0	1	0	0
CDH12	1010	broad.mit.edu	37	5	21975243	21975243	+	Silent	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr5:21975243C>T	ENST00000382254.1	-	6	1569	c.483G>A	c.(481-483)ttG>ttA	p.L161L	CDH12_ENST00000522262.1_Silent_p.L161L|CDH12_ENST00000504376.2_Silent_p.L161L	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	161	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						AAGGTCCATCCAAAAACTTTG	0.418000										HNSCC(59;0.17)			52	92					0	0	1	0	0
ACKR4	51554	broad.mit.edu	37	3	132319284	132319284	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr3:132319284G>A	ENST00000249887.2	+	2	139	c.43G>A	c.(43-45)Gaa>Aaa	p.E15K	ACAD11_ENST00000545291.1_Intron|ACAD11_ENST00000264990.6_Intron|ACAD11_ENST00000355458.3_Intron	NM_016557.2|NM_178445.2	NP_057641.1|NP_848540.1			atypical chemokine receptor 4																		TTATTATGAGGAAAATGAAAT	0.348000													11	14					0	0	1	0	0
LILRA6	79168	broad.mit.edu	37	19	54745696	54745696	+	Silent	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr19:54745696C>T	ENST00000440558.2	-	4	462	c.414G>A	c.(412-414)ggG>ggA	p.G138G	LILRA6_ENST00000270464.5_Silent_p.G138G|LILRA6_ENST00000419410.2_Silent_p.G138G|LILRB3_ENST00000407860.2_Intron|LILRA6_ENST00000396365.2_Silent_p.G138G|LILRA6_ENST00000245621.5_Silent_p.G138G|LILRA6_ENST00000391735.3_Silent_p.G138G					leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6											central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2)	38	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)		GGGTCATATTCCCCCCTGAGG	0.567000													23	62					0	0	1	0	0
MYO3A	53904	broad.mit.edu	37	10	26463194	26463194	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr10:26463194G>A	ENST00000265944.5	+	30	4167	c.4001G>A	c.(4000-4002)aGg>aAg	p.R1334K	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1334					protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity	p.R1334M(1)		NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						GTCAAAGAGAGGCAAGTTGAA	0.502000													40	63					0	0	1	0	0
BAGE2	85319	broad.mit.edu	37	21	11047502	11047502	+	RNA	SNP	T	T	C			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr21:11047502T>C	ENST00000470054.1	-	0	752									B melanoma antigen family, member 2															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)		AGCCGTTGGTTGGTACAGATT	0.343000													30	300					0	0	1	0	0
GPR112	139378	broad.mit.edu	37	X	135432293	135432293	+	Missense_Mutation	SNP	G	G	A	rs150281542		TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chrX:135432293G>A	ENST00000394143.1	+	6	6719	c.6428G>A	c.(6427-6429)gGt>gAt	p.G2143D	GPR112_ENST00000287534.4_Missense_Mutation_p.G2080D|GPR112_ENST00000394141.1_Missense_Mutation_p.G1938D|GPR112_ENST00000412101.1_Missense_Mutation_p.G1938D|GPR112_ENST00000370652.1_Missense_Mutation_p.G2143D	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2143					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					CTATCTGTTGGTGCCATGCCT	0.453000													37	47					0	0	1	0	0
P2RX5-TAX1BP3	100533970	broad.mit.edu	37	17	3594962	3594962	+	Silent	SNP	G	G	A	rs145941131		TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr17:3594962G>A	ENST00000550383.1	-	2	452	c.264C>T	c.(262-264)gtC>gtT	p.V88V	P2RX5_ENST00000225328.5_Silent_p.V88V|P2RX5_ENST00000345901.3_Silent_p.V88V|P2RX5_ENST00000435558.1_Silent_p.V88V|P2RX5_ENST00000552276.1_Silent_p.V88V|P2RX5_ENST00000551178.1_Silent_p.V88V|P2RX5_ENST00000547178.1_Silent_p.V88V|P2RX5_ENST00000552050.1_Silent_p.V52V																							CGTAGTCGGCGACATCCCAGA	0.612000													29	11					0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21232149	21232149	+	Missense_Mutation	SNP	C	C	T	rs149358359	byFrequency	TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr2:21232149C>T	ENST00000233242.1	-	26	7718	c.7591G>A	c.(7591-7593)Gaa>Aaa	p.E2531K		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	2531					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CGTTGAAGTTCCTGCTGAATG	0.453000													40	95					0	0	1	0	0
CDSN	1041	broad.mit.edu	37	6	31083824	31083824	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr6:31083824C>T	ENST00000376288.2	-	2	1594	c.1568G>A	c.(1567-1569)gGa>gAa	p.G523E	PSORS1C1_ENST00000259881.9_Intron|PSORS1C1_ENST00000467107.1_3'UTR	NM_001264.4	NP_001255.3	Q15517	CDSN_HUMAN	corneodesmosin	523					cell-cell adhesion|keratinocyte differentiation|skin morphogenesis	cornified envelope|desmosome|extracellular region	protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)	10						GAGTAACTCTCCTTGGGGTAG	0.517000													47	5					0	0	1	0	0
CPAMD8	27151	broad.mit.edu	37	19	17049247	17049247	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr19:17049247C>T	ENST00000443236.1	-	23	2975	c.2944G>A	c.(2944-2946)Gtc>Atc	p.V982I		NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	935						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						GCCCGGGGGACTCCTTCCGCC	0.602000													6	13					0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196722144	196722144	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr2:196722144C>T	ENST00000312428.6	-	44	8471	c.8371G>A	c.(8371-8373)Gaa>Aaa	p.E2791K		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2791	Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.E2791K(1)		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						CACAGACCTTCGGCCGCTGTA	0.368000													25	37					0	0	1	0	0
BZRAP1	9256	broad.mit.edu	37	17	56382920	56382920	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr17:56382920G>A	ENST00000355701.3	-	28	6212	c.5342C>T	c.(5341-5343)tCc>tTc	p.S1781F	BZRAP1_ENST00000268893.6_Missense_Mutation_p.S1721F|BZRAP1_ENST00000343736.4_Missense_Mutation_p.S1781F	NM_001261835.1|NM_004758.3	NP_001248764.1|NP_004749.2	O95153	RIMB1_HUMAN	benzodiazapine receptor (peripheral) associated protein 1	1781	SH3 3.					mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CATATTGGGGGAACTCTCCTG	0.607000													10	22					0	0	1	0	0
OR51G1	79324	broad.mit.edu	37	11	4944756	4944756	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr11:4944756G>A	ENST00000321961.2	-	1	881	c.814C>T	c.(814-816)Cgc>Tgc	p.R272C	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001005237.1	NP_001005237.1	Q8NGK1	O51G1_HUMAN	olfactory receptor, family 51, subfamily G, member 1	272					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1)	25		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGTACAACGCGGGGCAGATGT	0.498000													40	58					0	0	1	0	0
CORO7	79585	broad.mit.edu	37	16	4412726	4412726	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr16:4412726G>A	ENST00000251166.4	-	15	1434	c.1289C>T	c.(1288-1290)tCc>tTc	p.S430F	CORO7-PAM16_ENST00000572467.1_Missense_Mutation_p.S430F|CORO7_ENST00000574025.1_Missense_Mutation_p.S345F|CORO7_ENST00000423908.2_Missense_Mutation_p.S262F|CORO7_ENST00000539968.1_Missense_Mutation_p.S210F|CORO7_ENST00000537233.2_Missense_Mutation_p.S412F	NM_024535.4	NP_078811.3			coronin 7											breast(3)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|prostate(2)|skin(2)|urinary_tract(2)	23						ACTGGGAGGGGAAGAGAAACC	0.667000													6	9					0	0	1	0	0
MRPL21	219927	broad.mit.edu	37	11	68664016	68664016	+	Silent	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr11:68664016G>A	ENST00000567045.1	-	4	343	c.108C>T	c.(106-108)gaC>gaT	p.D36D	MRPL21_ENST00000362034.2_Silent_p.D121D|MRPL21_ENST00000450904.2_Silent_p.D36D			Q7Z2W9	RM21_HUMAN	mitochondrial ribosomal protein L21	121					translation	mitochondrion|ribosome	RNA binding|structural constituent of ribosome			large_intestine(1)|lung(6)|prostate(1)	8			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			CACACGCAAGGTCTAGTTCAT	0.532000													53	390					0	0	1	0	0
IQSEC3	440073	broad.mit.edu	37	12	247544	247544	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr12:247544C>T	ENST00000538872.1	+	4	1133	c.1015C>T	c.(1015-1017)Cgc>Tgc	p.R339C	IQSEC3_ENST00000382841.2_Missense_Mutation_p.R36C|IQSEC3_ENST00000326261.4_Missense_Mutation_p.R339C|RP11-598F7.4_ENST00000505893.2_RNA			Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	339	IQ.				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		CGAGAAAATCCGCAACTCGCT	0.632000													13	8					0	0	1	0	0
SNCAIP	9627	broad.mit.edu	37	5	121786790	121786790	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr5:121786790C>T	ENST00000261367.7	+	12	3817	c.2389C>T	c.(2389-2391)Ccc>Tcc	p.P797S	CTC-210G5.1_ENST00000506053.1_RNA|SNCAIP_ENST00000379536.2_Missense_Mutation_p.P690S|CTC-210G5.1_ENST00000509993.1_RNA|SNCAIP_ENST00000261368.8_Missense_Mutation_p.P750S|CTC-210G5.1_ENST00000510972.1_RNA|CTC-210G5.1_ENST00000503529.1_RNA|SNCAIP_ENST00000414317.2_Missense_Mutation_p.P352S|SNCAIP_ENST00000379533.2_Missense_Mutation_p.P797S|SNCAIP_ENST00000503116.2_3'UTR|SNCAIP_ENST00000504884.2_3'UTR|CTC-210G5.1_ENST00000505546.1_RNA|SNCAIP_ENST00000379538.3_Missense_Mutation_p.P384S|SNCAIP_ENST00000542191.1_Missense_Mutation_p.P308S			Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	750					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		CAGCCCATCTCCCACCTCAGA	0.567000													25	40					0	0	1	0	0
SH2D3C	10044	broad.mit.edu	37	9	130511660	130511660	+	Silent	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr9:130511660G>A	ENST00000314830.8	-	5	1082	c.969C>T	c.(967-969)ttC>ttT	p.F323F	SH2D3C_ENST00000471939.1_Intron|SH2D3C_ENST00000420366.1_Silent_p.F165F|SH2D3C_ENST00000373277.4_Silent_p.F166F|SH2D3C_ENST00000373276.3_Silent_p.F255F|SH2D3C_ENST00000429553.1_5'UTR|SH2D3C_ENST00000373274.3_Silent_p.F163F	NM_170600.2	NP_733745.1	Q8N5H7	SH2D3_HUMAN	SH2 domain containing 3C	323					JNK cascade|small GTPase mediated signal transduction	cytoplasm|membrane	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						AGCGCAGTGGGAAGGTGCGGT	0.647000													27	29					0	0	1	0	0
MTUS2	23281	broad.mit.edu	37	13	29601028	29601028	+	Silent	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr13:29601028G>A	ENST00000431530.3	+	1	2281	c.2223G>A	c.(2221-2223)aaG>aaA	p.K741K		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	731	Mediates interaction with MAPRE1.					cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						TGAGTGAAAAGTTTTTGCAGG	0.408000													16	60					0	0	1	0	0
GHR	2690	broad.mit.edu	37	5	42719517	42719517	+	Silent	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr5:42719517C>T	ENST00000230882.4	+	10	2098	c.1908C>T	c.(1906-1908)atC>atT	p.I636I	GHR_ENST00000537449.1_Silent_p.I449I|GHR_ENST00000357703.3_Silent_p.I614I	NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2	NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1	P10912	GHR_HUMAN	growth hormone receptor	636					2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding			NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	TGAACAAAATCATGCCTTAGC	0.433000													38	73					0	0	1	0	0
ARPP21	10777	broad.mit.edu	37	3	35763107	35763107	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr3:35763107G>A	ENST00000187397.4	+	14	1462	c.1006G>A	c.(1006-1008)Gat>Aat	p.D336N	ARPP21_ENST00000337271.5_Missense_Mutation_p.D282N|ARPP21_ENST00000444190.1_Missense_Mutation_p.D282N|ARPP21_ENST00000417925.1_Missense_Mutation_p.D302N|ARPP21_ENST00000458225.1_Missense_Mutation_p.D302N	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	336						cytoplasm	nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						GGGCAACAGAGATGGCTCAGG	0.532000													10	11					0	0	1	0	0
GPR133	283383	broad.mit.edu	37	12	131593385	131593385	+	Silent	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr12:131593385G>A	ENST00000261654.5	+	18	2563	c.2004G>A	c.(2002-2004)gaG>gaA	p.E668E	GPR133_ENST00000376682.4_Silent_p.E354E|GPR133_ENST00000535015.1_Silent_p.E700E|GPR133_ENST00000543617.1_Silent_p.E187E	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	668					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		TTGGGTCGGAGGACAGCAAGC	0.607000													40	59					0	0	1	0	0
SORL1	6653	broad.mit.edu	37	11	121384980	121384980	+	Silent	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr11:121384980G>A	ENST00000260197.7	+	8	1290	c.1161G>A	c.(1159-1161)gaG>gaA	p.E387E	SORL1_ENST00000532451.1_3'UTR	NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	387					cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		TGTCCTTGGAGAACGTGCTCT	0.542000													13	5					0	0	1	0	0
ARNTL2	56938	broad.mit.edu	37	12	27571035	27571035	+	Missense_Mutation	SNP	G	G	C			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr12:27571035G>C	ENST00000544915.1	+	15	1797	c.1578G>C	c.(1576-1578)gaG>gaC	p.E526D	ARNTL2_ENST00000542388.1_Missense_Mutation_p.E475D|ARNTL2_ENST00000261178.5_Missense_Mutation_p.E512D|ARNTL2_ENST00000311001.5_Missense_Mutation_p.E546D|ARNTL2_ENST00000266503.5_Missense_Mutation_p.E560D|ARNTL2_ENST00000395901.2_Missense_Mutation_p.E523D|RP11-165P7.1_ENST00000500498.2_RNA|ARNTL2_ENST00000546179.1_Intron	NM_020183.4	NP_064568.3	Q8WYA1	BMAL2_HUMAN	aryl hydrocarbon receptor nuclear translocator-like 2	560					circadian rhythm|entrainment of circadian clock|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	21	Colorectal(261;0.0847)|Lung SC(9;0.184)					CAAATAAGGAGTTGTTTCCAC	0.403000													22	37					0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	71061540	71061540	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr16:71061540C>T	ENST00000393567.2	-	20	3157	c.3007G>A	c.(3007-3009)Gat>Aat	p.D1003N	HYDIN_ENST00000448691.1_Missense_Mutation_p.D1003N|HYDIN_ENST00000448089.2_Missense_Mutation_p.D1003N|HYDIN_ENST00000321489.5_Missense_Mutation_p.D1003N	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	1003										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				AGTATCACATCAATTGCCTGG	0.512000													17	4					0	0	1	0	0
RB1CC1	9821	broad.mit.edu	37	8	53571458	53571458	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr8:53571458G>A	ENST00000025008.5	-	13	2291	c.1768C>T	c.(1768-1770)Cct>Tct	p.P590S	RB1CC1_ENST00000539297.1_Missense_Mutation_p.P590S|RB1CC1_ENST00000521611.1_Intron|RB1CC1_ENST00000435644.2_Missense_Mutation_p.P590S	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1	590					autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding			NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				ACTTCCGAAGGACAAAATGAT	0.318000													5	14					0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	137852460	137852460	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr2:137852460C>T	ENST00000409968.1	+	4	1146	c.968C>T	c.(967-969)tCc>tTc	p.S323F	THSD7B_ENST00000413152.2_Missense_Mutation_p.S292F|THSD7B_ENST00000543459.1_Missense_Mutation_p.S182F|THSD7B_ENST00000272643.3_Missense_Mutation_p.S323F					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		CTTCAAGATTCCTTCCCATTG	0.448000													44	62					0	0	1	0	0
KIAA1257	57501	broad.mit.edu	37	3	128707752	128707752	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr3:128707752C>T	ENST00000265068.5	-	3	439	c.272G>A	c.(271-273)gGa>gAa	p.G91E	KIAA1257_ENST00000510149.1_5'UTR|KIAA1257_ENST00000515659.1_5'UTR|KIAA1257_ENST00000511438.1_Missense_Mutation_p.G91E	NM_020741.2	NP_065792.1	Q9ULG3	K1257_HUMAN	KIAA1257	91										breast(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(2)	14						TGCATATTTTCCCTTCTGACC	0.393000													11	17					0	0	1	0	0
CADM3	57863	broad.mit.edu	37	1	159169599	159169599	+	Silent	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr1:159169599G>A	ENST00000368125.4	+	8	1168	c.1011G>A	c.(1009-1011)gtG>gtA	p.V337V	CADM3_ENST00000368124.4_Silent_p.V371V|CADM3_ENST00000497636.1_3'UTR|CTA-134P22.2_ENST00000415675.2_RNA	NM_001127173.1	NP_001120645.1	Q8N126	CADM3_HUMAN	cell adhesion molecule 3	337					adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	protein homodimerization activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55	all_hematologic(112;0.0429)					GTGGGATCGTGGCTTTCATTG	0.552000													75	9					0	0	1	0	0
OR4A15	81328	broad.mit.edu	37	11	55136040	55136040	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr11:55136040G>A	ENST00000314706.3	+	1	681	c.681G>A	c.(679-681)atG>atA	p.M227I		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	227					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						GGCTTTCTATGATAGCTAATG	0.433000													55	80					0	0	1	0	0
INSRR	3645	broad.mit.edu	37	1	156812212	156812212	+	Missense_Mutation	SNP	C	C	T	rs149316482	by1000genomes	TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr1:156812212C>T	ENST00000368195.3	-	18	3611	c.3215G>A	c.(3214-3216)cGa>cAa	p.R1072Q	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	1072	Protein kinase.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CCGCAAAGATCGAAGATGGCT	0.592000													83	8					0	0	1	0	0
ARHGAP21	57584	broad.mit.edu	37	10	24908899	24908899	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr10:24908899G>A	ENST00000396432.2	-	9	2411	c.1925C>T	c.(1924-1926)tCa>tTa	p.S642L	ARHGAP21_ENST00000320481.6_Missense_Mutation_p.S429L	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	641					signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						AGAAACAAATGATTTCTGGCT	0.443000													51	60					0	0	1	0	0
CNTF	1270	broad.mit.edu	37	11	58391524	58391524	+	Silent	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr11:58391524G>A	ENST00000361987.4	+	2	212	c.132G>A	c.(130-132)ctG>ctA	p.L44L	ZFP91-CNTF_ENST00000389919.4_3'UTR	NM_000614.3	NP_000605.1	P26441	CNTF_HUMAN	ciliary neurotrophic factor	44					ciliary neurotrophic factor-mediated signaling pathway|growth|negative regulation of neuron apoptosis|positive regulation of tyrosine phosphorylation of Stat3 protein		ciliary neurotrophic factor receptor binding|growth factor activity|interleukin-6 receptor binding			NS(1)|breast(1)|kidney(2)|large_intestine(4)|lung(1)|ovary(1)	10		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				ATCAGGGCCTGAACAAGAACA	0.507000													28	14					0	0	1	0	0
ZXDB	158586	broad.mit.edu	37	X	57618848	57618848	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chrX:57618848G>A	ENST00000374888.1	+	1	580	c.367G>A	c.(367-369)Gag>Aag	p.E123K		NM_007157.3	NP_009088.1	P98169	ZXDB_HUMAN	zinc finger, X-linked, duplicated B	123					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(2)|skin(6)	27						GGAGGCCGAGGAGGGCCCGGG	0.746000													6	5					0	0	1	0	0
EPPK1	83481	broad.mit.edu	37	8	144940435	144940435	+	Silent	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr8:144940435G>A	ENST00000525985.1	-	2	7058	c.6987C>T	c.(6985-6987)ctC>ctT	p.L2329L				P58107	EPIPL_HUMAN	epiplakin 1	2329						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CCCGGACGATGAGGTCCTTCT	0.697000													21	176					0	0	1	0	0
SMC4	10051	broad.mit.edu	37	3	160135718	160135718	+	Missense_Mutation	SNP	C	C	G			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr3:160135718C>G	ENST00000357388.3	+	11	2096	c.1645C>G	c.(1645-1647)Cct>Gct	p.P549A	RP11-432B6.3_ENST00000483754.1_Intron|SMC4_ENST00000469762.1_Missense_Mutation_p.P524A|SMC4_ENST00000462787.1_Missense_Mutation_p.P549A|SMC4_ENST00000360111.2_Missense_Mutation_p.P549A|SMC4_ENST00000344722.5_Missense_Mutation_p.P549A	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	structural maintenance of chromosomes 4	549					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)			AGGAAAACTCCCTCAAACTGA	0.368000													14	24					0	0	1	0	0
ATG16L2	89849	broad.mit.edu	37	11	72535155	72535155	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr11:72535155A>G	ENST00000321297.5	+	8	1013	c.875A>G	c.(874-876)aAg>aGg	p.K292R	ATG16L2_ENST00000534905.1_Intron	NM_033388.1	NP_203746.1	Q8NAA4	A16L2_HUMAN	autophagy related 16-like 2 (S. cerevisiae)	292					autophagy|protein transport	cytoplasm	protein binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)	14			BRCA - Breast invasive adenocarcinoma(5;2.73e-06)			GATGTGGTGAAGGGGCTTCTG	0.587000													58	348					0	0	1	0	0
IL20RA	53832	broad.mit.edu	37	6	137329785	137329785	+	Silent	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr6:137329785G>A	ENST00000367748.1	-	4	928	c.342C>T	c.(340-342)ccC>ccT	p.P114P	IL20RA_ENST00000468393.1_5'UTR|IL20RA_ENST00000316649.5_Silent_p.P225P|IL20RA_ENST00000541547.1_Silent_p.P176P			Q9UHF4	I20RA_HUMAN	interleukin 20 receptor, alpha	225	Fibronectin type-III 1.					integral to membrane	receptor activity			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000351)|OV - Ovarian serous cystadenocarcinoma(155;0.00459)		CACGGCGAGGGGGCCCTGGGA	0.537000													33	65					0	0	1	0	0
PSG7	5676	broad.mit.edu	37	19	43433624	43433624	+	RNA	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr19:43433624G>A	ENST00000406070.2	-	0	775				PSG7_ENST00000446844.3_RNA	NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy	extracellular region							Prostate(69;0.00682)				GGGTCACTGCGGCTGGCACTC	0.527000													202	299					0	0	1	0	0
GABRB2	2561	broad.mit.edu	37	5	160757985	160757985	+	Missense_Mutation	SNP	A	A	C			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr5:160757985A>C	ENST00000274547.2	-	9	1199	c.982T>G	c.(982-984)Tac>Gac	p.Y328D	GABRB2_ENST00000520240.1_Missense_Mutation_p.Y328D|GABRB2_ENST00000393959.1_Missense_Mutation_p.Y328D|GABRB2_ENST00000517901.1_Missense_Mutation_p.Y265D|GABRB2_ENST00000353437.6_Missense_Mutation_p.Y328D|GABRB2_ENST00000517547.1_Missense_Mutation_p.Y168D	NM_000813.2|NM_021911.2	NP_000804.1|NP_068711.1	P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 2	328					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	AAGAAGATGTAGTTGACTAGG	0.493000													44	65					0	0	1	0	0
ZNF81	347344	broad.mit.edu	37	X	47774848	47774848	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chrX:47774848C>T	ENST00000376954.1	+	6	1171	c.803C>T	c.(802-804)cCc>cTc	p.P268L	ZNF81_ENST00000338637.7_Missense_Mutation_p.P268L			P51508	ZNF81_HUMAN	zinc finger protein 81	268						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|large_intestine(1)|lung(1)|skin(1)	4		all_lung(315;0.0973)				GTGAAATTTCCCATTGGAGAG	0.398000													37	36					0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11556311	11556311	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr17:11556311C>T	ENST00000262442.3	+	14	2655	c.2587C>T	c.(2587-2589)Ctt>Ttt	p.L863F	DNAH9_ENST00000454412.2_Missense_Mutation_p.L863F	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	863	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GATCCACGCCCTTGTTCAGGT	0.423000													25	44					0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	41306568	41306568	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr20:41306568C>T	ENST00000373198.3	-	7	1326	c.1091G>A	c.(1090-1092)cGa>cAa	p.R364Q	PTPRT_ENST00000373187.1_Missense_Mutation_p.R364Q|PTPRT_ENST00000373193.3_Missense_Mutation_p.R364Q|PTPRT_ENST00000373190.1_Missense_Mutation_p.R364Q|PTPRT_ENST00000373184.1_Missense_Mutation_p.R364Q|PTPRT_ENST00000373201.1_Missense_Mutation_p.R364Q|PTPRT_ENST00000356100.2_Missense_Mutation_p.R364Q	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	364	Fibronectin type-III 1.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				CTCACCTGGTCGTGTGAGGAG	0.562000													41	46					0	0	1	0	0
AGR3	155465	broad.mit.edu	37	7	16902253	16902253	+	Silent	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr7:16902253C>T	ENST00000310398.2	-	4	277	c.207G>A	c.(205-207)gaG>gaA	p.E69E	AGR3_ENST00000402239.3_Silent_p.E69E	NM_176813.3	NP_789783.1	Q8TD06	AGR3_HUMAN	anterior gradient 3	69						extracellular region				central_nervous_system(1)|kidney(8)|lung(2)|skin(1)|stomach(1)	13	Lung NSC(10;0.0376)|all_lung(11;0.0721)|all_epithelial(12;0.202)			UCEC - Uterine corpus endometrioid carcinoma (126;0.184)		ATTGACAATCCTCCAGGTGAT	0.294000													32	69					0	0	1	0	0
COL6A3	1293	broad.mit.edu	37	2	238289841	238289841	+	Silent	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr2:238289841C>T	ENST00000295550.4	-	5	2066	c.1614G>A	c.(1612-1614)acG>acA	p.T538T	COL6A3_ENST00000392003.2_Silent_p.T131T|COL6A3_ENST00000392004.3_Silent_p.T332T|COL6A3_ENST00000353578.4_Silent_p.T332T|COL6A3_ENST00000409809.1_Silent_p.T332T|COL6A3_ENST00000347401.3_Silent_p.T337T|COL6A3_ENST00000472056.1_Silent_p.T131T|COL6A3_ENST00000346358.4_Silent_p.T538T	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	538	Nonhelical region.|VWFA 3.		T -> M (in dbSNP:rs34741387).		axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CGGCTGAACTCGTGAATAGGT	0.557000													56	75					0	0	1	0	0
ASB10	136371	broad.mit.edu	37	7	150873259	150873259	+	Silent	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr7:150873259G>A	ENST00000422024.1	-	5	1604	c.1479C>T	c.(1477-1479)ctC>ctT	p.L493L	ASB10_ENST00000434669.1_Silent_p.L455L|ASB10_ENST00000420175.2_Silent_p.L448L|ASB10_ENST00000377867.3_Silent_p.L433L|ASB10_ENST00000275838.1_Silent_p.L410L	NM_001142459.1	NP_001135931.2	Q8WXI3	ASB10_HUMAN	ankyrin repeat and SOCS box containing 10	448					intracellular signal transduction					NS(1)|endometrium(2)|lung(7)|skin(2)	12			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GTGGCAGGGGGAGGCGGGGCA	0.677000													15	18					0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	137917885	137917885	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr2:137917885C>T	ENST00000409968.1	+	6	1650	c.1472C>T	c.(1471-1473)tCa>tTa	p.S491L	THSD7B_ENST00000413152.2_Missense_Mutation_p.S460L|THSD7B_ENST00000485379.1_3'UTR|THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000272643.3_Missense_Mutation_p.S491L					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		TCTTCCTGGTCAGCCTGGGGC	0.517000													24	30					0	0	1	0	0
TRIP4	9325	broad.mit.edu	37	15	64737208	64737208	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr15:64737208C>T	ENST00000261884.3	+	12	1639	c.1579C>T	c.(1579-1581)Cca>Tca	p.P527S		NM_016213.4	NP_057297.2	Q15650	TRIP4_HUMAN	thyroid hormone receptor interactor 4	527					positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	ligand-dependent nuclear receptor binding|transcription coactivator activity|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21						TTCACAGTTTCCAGACATCAG	0.348000													30	27					0	0	1	0	0
KIAA1804	84451	broad.mit.edu	37	1	233515125	233515125	+	Silent	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr1:233515125C>T	ENST00000366624.3	+	9	2634	c.2373C>T	c.(2371-2373)ccC>ccT	p.P791P	MLK4_ENST00000366622.1_Silent_p.P237P	NM_032435.2	NP_115811.2																					GCAGCCCACCCTCCCTGCCAC	0.602000													31	10					0	0	1	0	0
MCOLN2	255231	broad.mit.edu	37	1	85418182	85418182	+	Silent	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr1:85418182G>A	ENST00000370608.3	-	5	664	c.597C>T	c.(595-597)tcC>tcT	p.S199S	MCOLN2_ENST00000531325.1_5'UTR|MCOLN2_ENST00000284027.5_Silent_p.S171S	NM_153259.2	NP_694991.2	Q8IZK6	MCLN2_HUMAN	mucolipin 2	199						integral to membrane	ion channel activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	18				all cancers(265;0.0111)|Epithelial(280;0.0263)|OV - Ovarian serous cystadenocarcinoma(397;0.217)		GAGGCTTCTTGGAGAGGTCCT	0.398000													49	3					0	0	1	0	0
PRTG	283659	broad.mit.edu	37	15	55919318	55919318	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr15:55919318C>T	ENST00000389286.4	-	17	2862	c.2815G>A	c.(2815-2817)Gga>Aga	p.G939R		NM_173814.4	NP_776175.2	Q2VWP7	PRTG_HUMAN	protogenin	939					multicellular organismal development	integral to membrane				breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		TGGTAATATCCTGAATAAACT	0.343000													19	26					0	0	1	0	0
KIAA0895	23366	broad.mit.edu	37	7	36373727	36373727	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr7:36373727C>T	ENST00000317020.6	-	4	1191	c.891G>A	c.(889-891)tgG>tgA	p.W297*	KIAA0895_ENST00000338533.5_Nonsense_Mutation_p.W335*|KIAA0895_ENST00000440378.1_Nonsense_Mutation_p.W345*|KIAA0895_ENST00000453212.1_Nonsense_Mutation_p.W103*|KIAA0895_ENST00000297063.6_Nonsense_Mutation_p.W348*|KIAA0895_ENST00000436884.1_Nonsense_Mutation_p.W245*|KIAA0895_ENST00000480192.1_5'UTR	NM_015314.2	NP_056129.2	Q8NCT3	K0895_HUMAN	KIAA0895	348										breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						TCCAACTGTTCCATGGCTGCT	0.378000													41	47					0	0	1	0	0
CDK12	51755	broad.mit.edu	37	17	37687033	37687033	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr17:37687033C>T	ENST00000447079.4	+	14	3970	c.3937C>T	c.(3937-3939)Cct>Tct	p.P1313S	CDK12_ENST00000430627.2_Missense_Mutation_p.P1304S	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	1313					mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						AGCAGAGCCTCCTGGCCACCT	0.587000			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)			53	109					0	0	1	0	0
OR52K1	390036	broad.mit.edu	37	11	4510137	4510137	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr11:4510137C>T	ENST00000307632.3	+	1	29	c.7C>T	c.(7-9)Ccc>Tcc	p.P3S		NM_001005171.2	NP_001005171.2	Q8NGK4	O52K1_HUMAN	olfactory receptor, family 52, subfamily K, member 1	3					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(18)|skin(2)|stomach(1)	32		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.76e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0836)|LUSC - Lung squamous cell carcinoma(625;0.192)		AGCCATGCTTCCCTCTAATAT	0.433000													39	50					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92573830	92573830	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr11:92573830G>A	ENST00000298047.6	+	17	10488	c.10471G>A	c.(10471-10473)Gaa>Aaa	p.E3491K	FAT3_ENST00000525166.1_Missense_Mutation_p.E3341K|FAT3_ENST00000409404.2_Missense_Mutation_p.E3491K			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3491	Cadherin 32.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GTCGGGAAATGAAGAGGAGGA	0.507000										TCGA Ovarian(4;0.039)			16	30					0	0	1	0	0
YTHDC2	64848	broad.mit.edu	37	5	112899685	112899685	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr5:112899685C>T	ENST00000161863.4	+	20	2785	c.2572C>T	c.(2572-2574)Ctt>Ttt	p.L858F		NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	858							ATP binding|ATP-dependent helicase activity|nucleic acid binding			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)		GGACCCCATCCTTACAATTGC	0.433000													60	69					0	0	1	0	0
WIF1	11197	broad.mit.edu	37	12	65460504	65460504	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr12:65460504G>A	ENST00000286574.4	-	6	1021	c.647C>T	c.(646-648)cCa>cTa	p.P216L		NM_007191.4	NP_009122.2	Q9Y5W5	WIF1_HUMAN	WNT inhibitory factor 1	216	EGF-like 2.				multicellular organismal development|Wnt receptor signaling pathway	extracellular region	protein tyrosine kinase activity			cervix(1)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	21			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0231)		CATACATCGTGGGGTACAAAG	0.423000			T	HMGA2	pleomorphic salivary gland adenoma								11	19					0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38881630	38881630	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr6:38881630G>A	ENST00000359357.3	+	65	9468	c.9214G>A	c.(9214-9216)Gat>Aat	p.D3072N	DNAH8_ENST00000441566.1_Missense_Mutation_p.D3036N|DNAH8_ENST00000449981.2_Missense_Mutation_p.D3289N					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TAAAGGTCTTGATAAACTAAT	0.368000													41	6					0	0	1	0	0
TMPRSS3	64699	broad.mit.edu	37	21	43796670	43796670	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr21:43796670C>T	ENST00000291532.3	-	11	2129	c.1174G>A	c.(1174-1176)Ggt>Agt	p.G392S	TMPRSS3_ENST00000433957.2_Missense_Mutation_p.G391S|TMPRSS3_ENST00000380399.1_Missense_Mutation_p.G476S|TMPRSS3_ENST00000474596.1_5'UTR|TMPRSS3_ENST00000398405.1_Missense_Mutation_p.G389S	NM_032404.2	NP_115780.1	P57727	TMPS3_HUMAN	transmembrane protease, serine 3	392	Peptidase S1.			ICNHRDVYGGIISPSMLCAGYLTGGVD -> DLQPQGRVRW HHLPLHALRGLPDGWRWN (in Ref. 1; AAG37012).	cellular sodium ion homeostasis|proteolysis	endoplasmic reticulum membrane|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity|sodium channel regulator activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(4)|skin(1)	13						TCCACGCCACCCGTCAGGTAG	0.662000											OREG0031642	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	30	55					0	0	1	0	0
SLITRK2	84631	broad.mit.edu	37	X	144905163	144905163	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chrX:144905163G>A	ENST00000370490.1	+	1	5475	c.1220G>A	c.(1219-1221)gGa>gAa	p.G407E	SLITRK2_ENST00000447897.2_Missense_Mutation_p.G407E|SLITRK2_ENST00000413937.2_Missense_Mutation_p.G407E|SLITRK2_ENST00000428560.2_Missense_Mutation_p.G407E|SLITRK2_ENST00000434188.2_Missense_Mutation_p.G407E			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	407						integral to membrane				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					CTGCACTTAGGAAACAACAGG	0.418000													54	83					0	0	1	0	0
ETV3L	440695	broad.mit.edu	37	1	157068549	157068549	+	Silent	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr1:157068549C>T	ENST00000454449.2	-	3	719	c.435G>A	c.(433-435)ggG>ggA	p.G145G		NM_001004341.2	NP_001004341.1	Q6ZN32	ETV3L_HUMAN	ets variant 3-like	145						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Hepatocellular(266;0.158)	Prostate(1639;0.184)				GGGCAGGGGCCCCCAGCAGCA	0.622000													100	9					0	0	1	0	0
KIAA1549	57670	broad.mit.edu	37	7	138602794	138602794	+	Silent	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr7:138602794G>A	ENST00000440172.1	-	2	1626	c.1578C>T	c.(1576-1578)ggC>ggT	p.G526G	KIAA1549_ENST00000242365.4_Silent_p.G476G|KIAA1549_ENST00000422774.1_Silent_p.G526G	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN	KIAA1549	526	Ser-rich.					integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						CAGAGAGGCGGCCGTGGGCAG	0.537000			O	BRAF	pilocytic astrocytoma								10	6					0	0	1	0	0
DSC1	1823	broad.mit.edu	37	18	28714577	28714577	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr18:28714577C>T	ENST00000257197.3	-	12	2095	c.1834G>A	c.(1834-1836)Gat>Aat	p.D612N	RP11-408H20.2_ENST00000581836.1_RNA|DSC1_ENST00000257198.5_Missense_Mutation_p.D612N	NM_004948.3	NP_004939.1	Q08554	DSC1_HUMAN	desmocollin 1	612	Cadherin 5.				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			GCAGAATTATCCAGAAAGAAT	0.363000													8	17					0	0	1	0	0
ULK1	8408	broad.mit.edu	37	12	132395326	132395326	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr12:132395326C>T	ENST00000321867.4	+	12	1280	c.929C>T	c.(928-930)tCc>tTc	p.S310F		NM_003565.2	NP_003556.1	O75385	ULK1_HUMAN	unc-51 like autophagy activating kinase 1	310	Interaction with GABARAP and GABARAPL2.|Poly-Ser.				autophagy|protein localization|regulation of autophagy	autophagic vacuole|cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	ATP binding|protein complex binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	29	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)		AGCTCCACCTCCCACCTGGCC	0.697000													19	19					0	0	1	0	0
FBXW12	285231	broad.mit.edu	37	3	48420972	48420972	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr3:48420972G>A	ENST00000296438.5	+	7	884	c.698G>A	c.(697-699)gGt>gAt	p.G233D	FBXW12_ENST00000445170.1_Missense_Mutation_p.G214D|FBXW12_ENST00000436231.1_Missense_Mutation_p.G76D|FBXW12_ENST00000415155.1_Missense_Mutation_p.G163D	NM_207102.2	NP_996985.2	Q6X9E4	FBW12_HUMAN	F-box and WD repeat domain containing 12	233										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TTTCAATATGGTATTGTACTT	0.438000													98	107					0	0	1	0	0
EPHB3	2049	broad.mit.edu	37	3	184299156	184299156	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr3:184299156G>A	ENST00000330394.2	+	15	3300	c.2848G>A	c.(2848-2850)Ggg>Agg	p.G950R	EIF2B5_ENST00000444495.1_Intron	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	EPH receptor B3	950	SAM.					integral to plasma membrane	ATP binding|ephrin receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			CGTCAGTGCGGGGTTTGCATC	0.587000													24	41					0	0	1	0	0
SLITRK4	139065	broad.mit.edu	37	X	142718824	142718824	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chrX:142718824G>A	ENST00000381779.4	-	2	326	c.101C>T	c.(100-102)tCa>tTa	p.S34L	SLITRK4_ENST00000338017.4_Missense_Mutation_p.S34L|SLITRK4_ENST00000356928.1_Missense_Mutation_p.S34L	NM_001184749.1|NM_001184750.1|NM_173078.3	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	34						integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					ATTCTCAACTGACACGCAGGA	0.408000													27	44					0	0	1	0	0
ACTL9	284382	broad.mit.edu	37	19	8807924	8807924	+	Silent	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr19:8807924C>T	ENST00000324436.3	-	1	1248	c.1128G>A	c.(1126-1128)agG>agA	p.R376R		NM_178525.3	NP_848620.2	Q8TC94	ACTL9_HUMAN	actin-like 9	376						cytoplasm|cytoskeleton				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						CGGAGAAATTCCTGGTGGGCT	0.667000													26	27					0	0	1	0	0
MATN4	8785	broad.mit.edu	37	20	43929760	43929760	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr20:43929760C>T	ENST00000537548.1	-	6	1115	c.871G>A	c.(871-873)Gat>Aat	p.D291N	MATN4_ENST00000372754.1_Missense_Mutation_p.D332N|MATN4_ENST00000360607.5_Missense_Mutation_p.D250N|MATN4_ENST00000342716.4_Missense_Mutation_p.D291N|MATN4_ENST00000372753.1_Missense_Mutation_p.D142N|MATN4_ENST00000372756.1_Missense_Mutation_p.D291N|MATN4_ENST00000353917.5_Intron|MATN4_ENST00000372751.4_Missense_Mutation_p.D142N			O95460	MATN4_HUMAN	matrilin 4	332	EGF-like 2.					extracellular region	protein binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.0122)				CTCCTCCCATCAGGCTGCAAG	0.572000											OREG0025977	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	24	29					0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21230290	21230290	+	Silent	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr2:21230290G>A	ENST00000233242.1	-	26	9577	c.9450C>T	c.(9448-9450)ttC>ttT	p.F3150F		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	3150					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CCCATAGAGAGAAATCTTTCA	0.343000													54	126					0	0	1	0	0
OR9G1	390174	broad.mit.edu	37	11	56468355	56468355	+	Silent	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr11:56468355C>T	ENST00000312153.1	+	1	492	c.492C>T	c.(490-492)tcC>tcT	p.S164S		NM_001005213.1	NP_001005213.1			olfactory receptor, family 9, subfamily G, member 1											breast(2)|kidney(1)|lung(25)|stomach(2)|upper_aerodigestive_tract(1)	31						AAACGTTTTCCTTTAACTTCT	0.438000													17	110					0	0	1	0	0
C6orf211	79624	broad.mit.edu	37	6	151789844	151789844	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr6:151789844C>T	ENST00000367294.3	+	5	1184	c.925C>T	c.(925-927)Cat>Tat	p.H309Y	C6orf211_ENST00000545879.1_Missense_Mutation_p.H190Y	NM_024573.1	NP_078849.1	Q9H993	CF211_HUMAN	chromosome 6 open reading frame 211	309							protein binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(7)	15			BRCA - Breast invasive adenocarcinoma(37;0.183)	OV - Ovarian serous cystadenocarcinoma(155;5.27e-11)		ACACAGTAATCATAAGTGGAT	0.343000													34	79					0	0	1	0	0
AVP	551	broad.mit.edu	37	20	3065310	3065310	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr20:3065310G>A	ENST00000380293.3	-	1	60	c.11C>T	c.(10-12)aCc>aTc	p.T4I		NM_000490.4	NP_000481.2	P01185	NEU2_HUMAN	arginine vasopressin	4					cell-cell signaling|ERK1 and ERK2 cascade|generation of precursor metabolites and energy|negative regulation of apoptosis|negative regulation of release of cytochrome c from mitochondria|positive regulation of gene expression|positive regulation of peptidyl-serine phosphorylation|protein kinase C signaling cascade|sodium-independent organic anion transport|transmembrane transport|vasoconstriction|water transport	cytosol|soluble fraction	caspase inhibitor activity|neurohypophyseal hormone activity|protein kinase activity|signal transducer activity|V1A vasopressin receptor binding			central_nervous_system(1)|prostate(1)|skin(1)	3				COAD - Colon adenocarcinoma(99;0.00643)		GGGCAGCATGGTGTCAGGCAT	0.637000													48	63					0	0	1	0	0
DFNB31	25861	broad.mit.edu	37	9	117169022	117169022	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr9:117169022A>G	ENST00000362057.3	-	9	2017	c.1849T>C	c.(1849-1851)Tcg>Ccg	p.S617P	DFNB31_ENST00000265134.6_Missense_Mutation_p.S234P|DFNB31_ENST00000374059.3_Missense_Mutation_p.S266P	NM_001173425.1|NM_015404.3	NP_001166896.1|NP_056219.3	Q9P202	WHRN_HUMAN	deafness, autosomal recessive 31	617	Pro-rich.				inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound	cytoplasm|growth cone|stereocilium				central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						ACAGTGCCCGAGCAGGAAGGC	0.667000													11	26					0	0	1	0	0
MARVELD3	91862	broad.mit.edu	37	16	71674572	71674572	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr16:71674572G>A	ENST00000299952.4	+	3	918	c.875G>A	c.(874-876)cGa>cAa	p.R292Q	MARVELD3_ENST00000565261.1_3'UTR|PHLPP2_ENST00000540628.1_3'UTR|MARVELD3_ENST00000561682.1_Intron	NM_001017967.2	NP_001017967.2	Q96A59	MALD3_HUMAN	MARVEL domain containing 3	295	MARVEL.					integral to membrane				NS(1)|endometrium(3)|large_intestine(5)|lung(6)|skin(2)	17		Ovarian(137;0.125)				GCCAAGAGTCGAACAATGTTG	0.587000													20	7					0	0	1	0	0
PCDHB11	56125	broad.mit.edu	37	5	140581660	140581660	+	Silent	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr5:140581660C>T	ENST00000354757.3	+	1	2313	c.2313C>T	c.(2311-2313)atC>atT	p.I771I	PCDHB11_ENST00000536699.1_Silent_p.I406I	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN		771					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AACCGGTTATCCCTAATATCC	0.433000													41	59					0	0	1	0	0
ANKRD45	339416	broad.mit.edu	37	1	173594003	173594003	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr1:173594003G>A	ENST00000333279.2	-	5	713	c.653C>T	c.(652-654)tCc>tTc	p.S218F		NM_198493.2	NP_940895.1	Q5TZF3	ANR45_HUMAN	ankyrin repeat domain 45	234										NS(2)|endometrium(2)|large_intestine(4)|lung(3)|skin(1)	12						CTCATTAATGGAAGCTTCTGT	0.393000													39	10					0	0	1	0	0
SCN1A	6323	broad.mit.edu	37	2	166894480	166894480	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr2:166894480C>T	ENST00000423058.2	-	15	2769	c.2752G>A	c.(2752-2754)Gat>Aat	p.D918N	SCN1A_ENST00000375405.3_Missense_Mutation_p.D907N|SCN1A_ENST00000303395.4_Missense_Mutation_p.D918N|AC010127.3_ENST00000595268.1_RNA|AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.D890N	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	918						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	CAGACACAATCTTTGTAGCTT	0.507000													59	66					0	0	1	0	0
MCHR1	2847	broad.mit.edu	37	22	41075536	41075536	+	Silent	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr22:41075536C>T	ENST00000249016.4	+	1	783	c.87C>T	c.(85-87)ccC>ccT	p.P29P	MCHR1_ENST00000381433.2_Silent_p.P29P|MCHR1_ENST00000498400.1_Intron	NM_005297.3	NP_005288.3	Q99705	MCHR1_HUMAN	melanin-concentrating hormone receptor 1	29					elevation of cytosolic calcium ion concentration|feeding behavior|generation of precursor metabolites and energy|inhibition of adenylate cyclase activity by G-protein signaling pathway	integral to plasma membrane|nonmotile primary cilium	neuropeptide receptor activity			endometrium(5)|large_intestine(7)|lung(6)|pancreas(1)|urinary_tract(1)	20						AGGAAGACCCCCTTCCCAACT	0.667000													9	30					0	0	1	0	0
DST	667	broad.mit.edu	37	6	56496733	56496733	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr6:56496733G>A	ENST00000370754.5	-	28	3811	c.3812C>T	c.(3811-3813)cCc>cTc	p.P1271L	DST_ENST00000518935.1_Missense_Mutation_p.P767L|DST_ENST00000370769.4_Missense_Mutation_p.P1093L|DST_ENST00000370765.6_Missense_Mutation_p.P767L|DST_ENST00000361203.3_Missense_Mutation_p.P1093L|DST_ENST00000446842.2_Missense_Mutation_p.P767L|DST_ENST00000421834.2_Missense_Mutation_p.P1093L|DST_ENST00000244364.6_Missense_Mutation_p.P767L|DST_ENST00000312431.6_Missense_Mutation_p.P1093L|DST_ENST00000370788.2_Missense_Mutation_p.P1093L			Q03001	DYST_HUMAN	dystonin	1093					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TCTTTCCAGGGGAGTTCGAAT	0.388000													36	32					0	0	1	0	0
CCDC59	29080	broad.mit.edu	37	12	82752021	82752021	+	Silent	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr12:82752021G>A	ENST00000256151.7	-	1	546	c.135C>T	c.(133-135)ttC>ttT	p.F45F	CCDC59_ENST00000548126.1_Intron	NM_014167.4	NP_054886.2	Q9P031	TAP26_HUMAN	coiled-coil domain containing 59	45					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)	5						CGCTCCCCACGAAGGCTTGCG	0.512000											OREG0022008	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	29					0	0	1	0	0
PDZK1IP1	10158	broad.mit.edu	37	1	47650754	47650754	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr1:47650754C>T	ENST00000294338.2	-	3	314	c.192G>A	c.(190-192)atG>atA	p.M64I	PDZK1IP1_ENST00000371885.1_Missense_Mutation_p.M64I|PDZK1IP1_ENST00000491793.1_5'UTR	NM_005764.3	NP_005755.1	Q13113	PDZ1I_HUMAN	PDZK1 interacting protein 1	64						integral to membrane				endometrium(1)|lung(1)|prostate(1)	3						CGGTCAGGATCATGTGTGCAG	0.597000													39	4					0	0	1	0	0
NLRP4	147945	broad.mit.edu	37	19	56363626	56363626	+	Silent	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr19:56363626C>T	ENST00000301295.6	+	2	602	c.180C>T	c.(178-180)atC>atT	p.I60I	NLRP4_ENST00000346986.5_Silent_p.I60I	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	60	DAPIN.						ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		ACCTCTTGATCAAGCACTATG	0.418000													27	39					0	0	1	0	0
KIAA2022	340533	broad.mit.edu	37	X	73960801	73960801	+	Silent	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chrX:73960801C>T	ENST00000373468.1	-	3	4242	c.3591G>A	c.(3589-3591)agG>agA	p.R1197R	KIAA2022_ENST00000055682.5_Silent_p.R1197R			Q5QGS0	K2022_HUMAN	KIAA2022	1197					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase 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						GGGATTTTTTCCTGGTGTTTT	0.428000													35	58					0	0	1	0	0
TLL1	7092	broad.mit.edu	37	4	166935632	166935632	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr4:166935632G>A	ENST00000061240.2	+	8	1609	c.962G>A	c.(961-963)gGc>gAc	p.G321D	TLL1_ENST00000513213.1_Missense_Mutation_p.G321D|TLL1_ENST00000507499.1_Missense_Mutation_p.G321D	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	321	Metalloprotease (By similarity).				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		GATGATAATGGCATACGTCCT	0.448000													20	112					0	0	1	0	0
NAA11	84779	broad.mit.edu	37	4	80246696	80246696	+	Silent	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr4:80246696C>T	ENST00000286794.4	-	1	508	c.336G>A	c.(334-336)agG>agA	p.R112R		NM_032693.2	NP_116082.1	Q9BSU3	NAA11_HUMAN	N(alpha)-acetyltransferase 11, NatA catalytic subunit	112	N-acetyltransferase.					cytoplasm|nucleus	peptide alpha-N-acetyltransferase activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|skin(2)	23						GGTTACTCTTCCTGACGTGCA	0.517000													16	14					0	0	1	0	0
GP5	2814	broad.mit.edu	37	3	194118240	194118240	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr3:194118240G>A	ENST00000401815.1	-	1	843	c.772C>T	c.(772-774)Ccc>Tcc	p.P258S	GP5_ENST00000323007.3_Missense_Mutation_p.P258S			P40197	GPV_HUMAN	glycoprotein V (platelet)	258					blood coagulation, intrinsic pathway|cell adhesion|platelet activation	integral to plasma membrane				breast(3)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(14)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	35	all_cancers(143;6.64e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.06e-05)		AGCGCAGAGGGGAGAAACGCA	0.582000													44	54					0	0	1	0	0
TAB2	23118	broad.mit.edu	37	6	149699271	149699271	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr6:149699271C>T	ENST00000367456.1	+	4	797	c.220C>T	c.(220-222)Cac>Tac	p.H74Y	TAB2_ENST00000536230.1_Missense_Mutation_p.H42Y|TAB2_ENST00000392282.1_Missense_Mutation_p.H74Y|TAB2_ENST00000538427.1_Missense_Mutation_p.H74Y|TAB2_ENST00000286332.5_Missense_Mutation_p.H74Y			Q9NYJ8	TAB2_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 2	74					activation of MAPK activity|heart development|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	K63-linked polyubiquitin binding|zinc ion binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	22						TCTACGCAATCACATGACTTC	0.423000													31	50					0	0	1	0	0
KIF4A	24137	broad.mit.edu	37	X	69595988	69595988	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chrX:69595988G>A	ENST00000374403.3	+	18	2044	c.1962G>A	c.(1960-1962)atG>atA	p.M654I	KIF4A_ENST00000374388.3_Missense_Mutation_p.M654I	NM_012310.4	NP_036442.3	O95239	KIF4A_HUMAN	kinesin family member 4A	654					anterograde axon cargo transport|axon guidance|blood coagulation|organelle organization	chromosome|cytosol|midbody|nuclear matrix|spindle microtubule	ATP binding|DNA binding|microtubule motor activity|protein binding			breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	51						TGCGTCAAATGAAAGAAGATG	0.363000													25	39					0	0	1	0	0
SCN4A	6329	broad.mit.edu	37	17	62036697	62036697	+	Silent	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr17:62036697G>A	ENST00000435607.1	-	12	2023	c.1947C>T	c.(1945-1947)atC>atT	p.I649I	SCN4A_ENST00000578147.1_Silent_p.I649I	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	649					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	TGAGGGTGACGATGATGCTGT	0.552000													20	19					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179431307	179431307	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr2:179431307C>T	ENST00000589042.1	-	326	79776	c.79552G>A	c.(79552-79554)Gag>Aag	p.E26518K	TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E24877K|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E17453K|TTN_ENST00000342992.6_Missense_Mutation_p.E23950K|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E17645K|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E17578K|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590932.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	24877	Fibronectin type-III 93.						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)			CCCAAGATCTCACTGCCGCCA	0.433000													90	99					0	0	1	0	0
CACNA2D3	55799	broad.mit.edu	37	3	54537566	54537566	+	Silent	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr3:54537566G>A	ENST00000474759.1	+	5	477	c.429G>A	c.(427-429)ggG>ggA	p.G143G	CACNA2D3_ENST00000288197.5_Silent_p.G143G|CACNA2D3_ENST00000415676.2_Silent_p.G143G|CACNA2D3_ENST00000490478.1_Silent_p.G49G	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	143						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	p.G143G(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		ACAAAGACGGGAATTTTTTGG	0.398000													30	51					0	0	1	0	0
CRYGA	1418	broad.mit.edu	37	2	209025650	209025650	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr2:209025650C>T	ENST00000304502.4	-	3	422	c.403G>A	c.(403-405)Gaa>Aaa	p.E135K		NM_014617.3	NP_055432.2			crystallin, gamma A											endometrium(1)|kidney(3)|large_intestine(1)|lung(7)	12				Epithelial(149;0.067)|LUSC - Lung squamous cell carcinoma(261;0.0708)|Lung(261;0.135)		TTGGGCATTTCATAGAGGACC	0.572000													38	59					0	0	1	0	0
GRIN3A	116443	broad.mit.edu	37	9	104432941	104432941	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr9:104432941C>T	ENST00000361820.3	-	3	2353	c.1753G>A	c.(1753-1755)Gaa>Aaa	p.E585K		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	585					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	GCTATCTTTTCCAGCAGATCA	0.438000													30	44					0	0	1	0	0
SLITRK2	84631	broad.mit.edu	37	X	144906357	144906357	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chrX:144906357G>A	ENST00000370490.1	+	1	6669	c.2414G>A	c.(2413-2415)gGa>gAa	p.G805E	SLITRK2_ENST00000447897.2_Missense_Mutation_p.G805E|SLITRK2_ENST00000413937.2_Missense_Mutation_p.G805E|SLITRK2_ENST00000428560.2_Missense_Mutation_p.G805E|SLITRK2_ENST00000434188.2_Missense_Mutation_p.G805E			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	805						integral to membrane				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					GTTTTATATGGAACTCCCAGG	0.443000													55	81					0	0	1	0	0
PPARG	5468	broad.mit.edu	37	3	12447433	12447433	+	Silent	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr3:12447433G>A	ENST00000397026.2	+	7	989	c.606G>A	c.(604-606)gaG>gaA	p.E202E	PPARG_ENST00000397012.2_Silent_p.E196E|PPARG_ENST00000539812.1_Silent_p.E194E|PPARG_ENST00000287820.6_Silent_p.E224E|PPARG_ENST00000397010.2_Silent_p.E196E|PPARG_ENST00000397000.1_Silent_p.E196E|PPARG_ENST00000309576.6_Silent_p.E196E|PPARG_ENST00000397015.2_Silent_p.E196E			P37231	PPARG_HUMAN	peroxisome proliferator-activated receptor gamma	224					activation of caspase activity|cell fate commitment|cell maturation|cellular response to insulin stimulus|epithelial cell differentiation|glucose homeostasis|induction of apoptosis|innate immune response|lipid homeostasis|lipoprotein transport|long-chain fatty acid transport|low-density lipoprotein particle receptor biosynthetic process|monocyte differentiation|negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|placenta development|positive regulation of fat cell differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to lipid|response to low-density lipoprotein particle stimulus|white fat cell differentiation	cytosol|nucleoplasm	activating transcription factor binding|arachidonic acid binding|drug binding|enzyme binding|prostaglandin receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding		PAX8/PPARG(117)	breast(2)|endometrium(4)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20					Atorvastatin(DB01076)|Icosapent(DB00159)|Pioglitazone(DB01132)|Rosiglitazone(DB00412)|Troglitazone(DB00197)	TGTTGGCGGAGATCTCCAGTG	0.512000			T	PAX8	follicular thyroid		"""Insulin resistance ; lipodystrophy, familial partial L;diabetes mellitus, insulin-resistantI, with acanthosis nigricans and hypertension"""						29	46					0	0	1	0	0
PCDHA9	9752	broad.mit.edu	37	5	140227985	140227985	+	Translation_Start_Site	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr5:140227985G>A	ENST00000378122.3	+	0	629				PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA9_ENST00000532602.1_De_novo_Start_OutOfFrame	NM_014005.3	NP_054724.1														breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTGCTGAACGATGGCGAACA	0.413000													27	62					0	0	1	0	0
MGAT4C	25834	broad.mit.edu	37	12	86373133	86373133	+	Silent	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr12:86373133C>T	ENST00000604798.1	-	8	2575	c.1371G>A	c.(1369-1371)agG>agA	p.R457R	MGAT4C_ENST00000393205.2_Silent_p.R486R|MGAT4C_ENST00000332156.1_Silent_p.R457R|MGAT4C_ENST00000549405.2_Silent_p.R457R|MGAT4C_ENST00000552808.2_Silent_p.R457R|MGAT4C_ENST00000548651.1_Silent_p.R457R			Q9UBM8	MGT4C_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative)	457					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						TGACATATATCCTCATACAAT	0.313000													20	26					0	0	1	0	0
IRAK3	11213	broad.mit.edu	37	12	66638416	66638416	+	Silent	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr12:66638416C>T	ENST00000261233.4	+	9	1459	c.1038C>T	c.(1036-1038)atC>atT	p.I346I	IRAK3_ENST00000457197.2_Silent_p.I285I	NM_007199.2	NP_009130.2	Q9Y616	IRAK3_HUMAN	interleukin-1 receptor-associated kinase 3	346	Protein kinase.				interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|negative regulation of innate immune response|negative regulation of interleukin-12 production|negative regulation of interleukin-6 production|negative regulation of macrophage cytokine production|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein catabolic process|negative regulation of protein complex disassembly|negative regulation of toll-like receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of macrophage tolerance induction|positive regulation of NF-kappaB transcription factor activity|response to exogenous dsRNA|response to lipopolysaccharide|response to peptidoglycan	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein heterodimerization activity|protein homodimerization activity|protein serine/threonine kinase activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(28;0.0203)		AAGAGTACATCAGACAGGGGA	0.433000													44	52					0	0	1	0	0
CXorf66	347487	broad.mit.edu	37	X	139038210	139038210	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chrX:139038210G>A	ENST00000370540.1	-	3	954	c.931C>T	c.(931-933)Cgt>Tgt	p.R311C		NM_001013403.2	NP_001013421.1	Q5JRM2	CX066_HUMAN	chromosome X open reading frame 66	311						integral to membrane				breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|skin(1)|stomach(1)	26						TCTAACTTACGAAAGGACCTG	0.368000													55	88					0	0	1	0	0
WNK1	65125	broad.mit.edu	37	12	994460	994460	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr12:994460C>T	ENST00000537687.1	+	19	5913	c.5270C>T	c.(5269-5271)tCa>tTa	p.S1757L	WNK1_ENST00000535572.1_Missense_Mutation_p.S1250L|WNK1_ENST00000530271.2_Missense_Mutation_p.S1995L|WNK1_ENST00000340908.4_Missense_Mutation_p.S1090L|WNK1_ENST00000315939.6_Missense_Mutation_p.S1497L	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	1497					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			ACCACCACTTCATTCCCAAGC	0.502000													96	139					0	0	1	0	0
OR2A25	392138	broad.mit.edu	37	7	143771361	143771361	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr7:143771361C>T	ENST00000408898.2	+	1	87	c.49C>T	c.(49-51)Ccc>Tcc	p.P17S		NM_001004488.1	NP_001004488.1	A4D2G3	O2A25_HUMAN	olfactory receptor, family 2, subfamily A, member 25	17					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24	Melanoma(164;0.0783)					ACTGGGATTTCCCATTGGCCC	0.488000													44	70					0	0	1	0	0
WDHD1	11169	broad.mit.edu	37	14	55434047	55434047	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr14:55434047G>A	ENST00000360586.3	-	17	2194	c.2129C>T	c.(2128-2130)tCc>tTc	p.S710F	WDHD1_ENST00000420358.2_Missense_Mutation_p.S587F|WDHD1_ENST00000359167.4_Missense_Mutation_p.S228F|WDHD1_ENST00000421192.1_Missense_Mutation_p.S587F	NM_007086.3	NP_009017.1	O75717	WDHD1_HUMAN	WD repeat and HMG-box DNA binding protein 1	710						cytoplasm|nucleoplasm	DNA binding			breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(2)	42						AAGCTTAAAGGATAATATAGC	0.398000													21	30					0	0	1	0	0
LAMC3	10319	broad.mit.edu	37	9	133967055	133967055	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr9:133967055C>T	ENST00000361069.4	+	28	4742	c.4609C>T	c.(4609-4611)Cag>Tag	p.Q1537*	LAMC3_ENST00000480883.1_Intron	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	1537	Domain II and I.				cell adhesion	basement membrane|membrane	structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		GCAGGAATCCCAGCAGCAGGA	0.627000													3	9					0	0	1	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37482118	37482118	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr10:37482118C>T	ENST00000374660.1	+	33	2834	c.2735C>T	c.(2734-2736)cCc>cTc	p.P912L	ANKRD30A_ENST00000361713.1_Missense_Mutation_p.P793L|ANKRD30A_ENST00000475522.1_3'UTR|ANKRD30A_ENST00000602533.1_Missense_Mutation_p.P793L			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	967						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						ATTTAGGCTCCCTGCAGAATG	0.269000													35	53					0	0	1	0	0
SLC8A1	6546	broad.mit.edu	37	2	40342678	40342678	+	Silent	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr2:40342678G>A	ENST00000406785.1	-	8	2718	c.2529C>T	c.(2527-2529)ttC>ttT	p.F843F	SLC8A1_ENST00000405901.3_Silent_p.F874F|SLC8A1_ENST00000402441.1_Silent_p.F843F|SLC8A1_ENST00000405269.1_Silent_p.F843F|SLC8A1_ENST00000403092.1_Silent_p.F879F|SLC8A1-AS1_ENST00000435515.1_RNA|SLC8A1_ENST00000542756.1_Silent_p.F874F|SLC8A1_ENST00000542024.1_Silent_p.F843F|SLC8A1_ENST00000408028.2_Silent_p.F871F|SLC8A1_ENST00000332839.4_Silent_p.F879F|SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1-AS1_ENST00000601679.1_RNA|SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1-AS1_ENST00000599268.1_RNA|SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1_ENST00000406391.2_Silent_p.F843F|SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1-AS1_ENST00000593848.1_RNA|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1-AS1_ENST00000444629.1_RNA			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	879					cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	CGATTCCCAGGAAGACATTCA	0.572000													34	66					0	0	1	0	0
PRSS37	136242	broad.mit.edu	37	7	141539280	141539280	+	Splice_Site	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr7:141539280C>T	ENST00000350549.3	-	2	406		c.e2-1		PRSS37_ENST00000438520.1_Splice_Site	NM_001008270.2|NM_001171951.1	NP_001008271.2|NP_001165422.1	A4D1T9	PRS37_HUMAN	protease, serine, 37						proteolysis	extracellular region	serine-type endopeptidase activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(3)	15						AAAAATGTCCCTGAGAAAATA	0.368000													12	11					0	0	1	0	0
TRIM49C	642612	broad.mit.edu	37	11	89774444	89774444	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr11:89774444G>A	ENST00000448984.1	+	8	1414	c.1085G>A	c.(1084-1086)cGg>cAg	p.R362Q	TRIM49C_ENST00000432771.1_Intron	NM_001195234.1	NP_001182163.1	P0CI26	T49L2_HUMAN	tripartite motif containing 49C	362	B30.2/SPRY.					intracellular	zinc ion binding			endometrium(3)|kidney(1)|lung(4)	8						AATATGTATCGGAAGGAGAAG	0.448000													26	57					0	0	1	0	0
FAM65C	140876	broad.mit.edu	37	20	49214124	49214124	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr20:49214124C>T	ENST00000327979.2	-	14	2182	c.1771G>A	c.(1771-1773)Ggt>Agt	p.G591S	FAM65C_ENST00000535356.1_Missense_Mutation_p.G595S|FAM65C_ENST00000045083.2_Missense_Mutation_p.G591S			Q96MK2	FA65C_HUMAN	family with sequence similarity 65, member C	591										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CACCGGAGACCCTGGGAGCCC	0.642000													4	7					0	0	1	0	0
FAM46D	169966	broad.mit.edu	37	X	79698179	79698179	+	Silent	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chrX:79698179G>A	ENST00000538312.1	+	5	475	c.141G>A	c.(139-141)gtG>gtA	p.V47V	FAM46D_ENST00000308293.5_Silent_p.V47V	NM_001170574.1	NP_001164045.1	Q8NEK8	FA46D_HUMAN	family with sequence similarity 46, member D	47										kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23						TTCATGTTGTGAAAGATCAAC	0.373000													35	61					0	0	1	0	0
OR52N2	390077	broad.mit.edu	37	11	5841694	5841694	+	Silent	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr11:5841694G>A	ENST00000317037.2	+	1	151	c.129G>A	c.(127-129)ggG>ggA	p.G43G	TRIM5_ENST00000380027.1_Intron	NM_001005174.1	NP_001005174.1	Q8NGI0	O52N2_HUMAN	olfactory receptor, family 52, subfamily N, member 2	43					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|urinary_tract(1)	32		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.49e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTGTCGTGGGGAACTGTGGGC	0.547000													44	56					0	0	1	0	0
OR51D1	390038	broad.mit.edu	37	11	4661102	4661102	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr11:4661102G>A	ENST00000357605.2	+	1	158	c.82G>A	c.(82-84)Ggt>Agt	p.G28S		NM_001004751.2	NP_001004751.1	Q8NGF3	O51D1_HUMAN	olfactory receptor, family 51, subfamily D, member 1	28					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|liver(2)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	27		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19)		CCTTTTGGTGGGTATCCCTGG	0.512000													54	61					0	0	1	0	0
C4A	720	broad.mit.edu	37	6	31963519	31963519	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr6:31963519C>T	ENST00000428956.2	+	25	3262	c.3178C>T	c.(3178-3180)Cgg>Tgg	p.R1060W	C4A_ENST00000498271.1_Missense_Mutation_p.R1060W	NM_007293.2	NP_009224.2			complement component 4A (Rodgers blood group)																		CCAGCAGTTTCGGAAGGCGGA	0.612000													29	6					0	0	1	0	0
PCDH18	54510	broad.mit.edu	37	4	138453134	138453134	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr4:138453134C>T	ENST00000344876.4	-	1	495	c.109G>A	c.(109-111)Gaa>Aaa	p.E37K	PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000507846.1_Intron|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000412923.2_Missense_Mutation_p.E37K	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	37	Cadherin 1.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					ACCCTCTGTTCCTCATAAATC	0.383000													5	75					0	0	1	0	0
PROKR2	128674	broad.mit.edu	37	20	5294904	5294904	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr20:5294904C>T	ENST00000546004.1	-	2	358	c.112G>A	c.(112-114)Gat>Aat	p.D38N	PROKR2_ENST00000217270.3_Missense_Mutation_p.D38N			Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	38						integral to membrane|plasma membrane	neuropeptide Y receptor activity	p.D38N(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						TCATCCTCATCCATAGGGAGG	0.507000										HNSCC(71;0.22)			43	46					0	0	1	0	0
CACNA1C	775	broad.mit.edu	37	12	2786342	2786342	+	Silent	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr12:2786342G>A	ENST00000399655.1	+	40	5176	c.4911G>A	c.(4909-4911)caG>caA	p.Q1637Q	CACNA1C_ENST00000347598.4_Silent_p.Q1685Q|CACNA1C_ENST00000399641.1_Silent_p.Q1637Q|CACNA1C_ENST00000399649.1_Silent_p.Q1643Q|CACNA1C_ENST00000399621.1_Silent_p.Q1656Q|CACNA1C-AS1_ENST00000501371.1_RNA|CACNA1C_ENST00000402845.3_Silent_p.Q1656Q|CACNA1C_ENST00000399601.1_Silent_p.Q1637Q|CACNA1C_ENST00000335762.5_Silent_p.Q1662Q|CACNA1C_ENST00000399634.1_Silent_p.Q1637Q|CACNA1C_ENST00000399597.1_Silent_p.Q1637Q|CACNA1C_ENST00000399629.1_Silent_p.Q1654Q|CACNA1C_ENST00000327702.7_Silent_p.Q1637Q|CACNA1C_ENST00000399595.1_Silent_p.Q1645Q|CACNA1C_ENST00000399617.1_Silent_p.Q1637Q|CACNA1C_ENST00000406454.3_Silent_p.Q1637Q|CACNA1C_ENST00000399644.1_Silent_p.Q1637Q|CACNA1C_ENST00000399603.1_Silent_p.Q1637Q|CACNA1C_ENST00000399591.1_Silent_p.Q1645Q|CACNA1C_ENST00000399606.1_Silent_p.Q1657Q|CACNA1C_ENST00000344100.3_Silent_p.Q1678Q|CACNA1C_ENST00000399637.1_Silent_p.Q1656Q|CACNA1C_ENST00000399638.1_Silent_p.Q1665Q	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1685					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	GCAAAGAGCAGGGCCTTGTGG	0.597000													8	10					0	0	1	0	0
PCDHB2	56133	broad.mit.edu	37	5	140475116	140475116	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr5:140475116C>T	ENST00000194155.4	+	1	890	c.742C>T	c.(742-744)Ctc>Ttc	p.L248F		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN		248					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGCAAAGCTGCTCTATGAGGT	0.542000													27	43					0	0	1	0	0
KIAA1210	57481	broad.mit.edu	37	X	118284430	118284430	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chrX:118284430C>T	ENST00000402510.2	-	1	112	c.113G>A	c.(112-114)gGa>gAa	p.G38E		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	38										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						CGCTCGACTTCCAATCCTGGC	0.607000													22	39					0	0	1	0	0
ADAD1	132612	broad.mit.edu	37	4	123301320	123301320	+	Silent	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr4:123301320G>A	ENST00000296513.2	+	3	281	c.96G>A	c.(94-96)acG>acA	p.T32T	ADAD1_ENST00000388725.2_Silent_p.T14T|ADAD1_ENST00000388724.2_Silent_p.T32T	NM_139243.3	NP_640336.1	Q96M93	ADAD1_HUMAN	adenosine deaminase domain containing 1 (testis-specific)	32					multicellular organismal development|RNA processing	nucleus	adenosine deaminase activity|double-stranded RNA binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						CGACAAAGACGATAACTACAC	0.468000													25	14					0	0	1	0	0
SV2C	22987	broad.mit.edu	37	5	75428020	75428020	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr5:75428020C>T	ENST00000502798.2	+	2	887	c.445C>T	c.(445-447)Cgt>Tgt	p.R149C	SV2C_ENST00000322285.7_Missense_Mutation_p.R149C	NM_014979.1	NP_055794.1	Q496J9	SV2C_HUMAN	synaptic vesicle glycoprotein 2C	149					neurotransmitter transport	cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		CGGTCATGGTCGTTTTCAGTG	0.527000													30	64					0	0	1	0	0
KLHL40	131377	broad.mit.edu	37	3	42727939	42727939	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr3:42727939G>A	ENST00000287777.4	+	1	929	c.829G>A	c.(829-831)Gga>Aga	p.G277R		NM_152393.2	NP_689606.2			kelch-like family member 40																		GGGGAAGGATGGAGCCGGGGC	0.597000													52	104					0	0	1	0	0
KIF2B	84643	broad.mit.edu	37	17	51900988	51900988	+	Silent	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr17:51900988G>A	ENST00000268919.4	+	1	750	c.594G>A	c.(592-594)ctG>ctA	p.L198L		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	198					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GCAGGCACCTGGACAGCAGCA	0.562000													27	55					0	0	1	0	0
SLC4A8	9498	broad.mit.edu	37	12	51865128	51865128	+	Silent	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr12:51865128C>T	ENST00000453097.2	+	14	1933	c.1716C>T	c.(1714-1716)ttC>ttT	p.F572F	SLC4A8_ENST00000394856.1_Silent_p.F519F|SLC4A8_ENST00000514353.3_Silent_p.F519F|SLC4A8_ENST00000546663.1_3'UTR|SLC4A8_ENST00000535225.2_Silent_p.F519F|SLC4A8_ENST00000358657.3_Silent_p.F599F	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1	Q2Y0W8	S4A8_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 8	572					bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		GGACCGCTTTCCTGTGTATTG	0.458000													62	83					0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75072338	75072338	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr1:75072338C>T	ENST00000326665.5	-	10	1654	c.1436G>A	c.(1435-1437)gGa>gAa	p.G479E	RP4-612J11.1_ENST00000416017.1_RNA|C1orf173_ENST00000420661.2_Missense_Mutation_p.G282E	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	479	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						TCCTGGTTTTCCTTTACTTGT	0.383000													98	21					0	0	1	0	0
OTOA	146183	broad.mit.edu	37	16	21739600	21739600	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr16:21739600G>A	ENST00000388958.3	+	19	2056	c.2055G>A	c.(2053-2055)atG>atA	p.M685I	OTOA_ENST00000388957.3_Missense_Mutation_p.M361I|OTOA_ENST00000388956.4_Missense_Mutation_p.M606I|OTOA_ENST00000286149.4_Missense_Mutation_p.M699I	NM_144672.3	NP_653273.3	Q7RTW8	OTOAN_HUMAN	otoancorin	699					sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		TGGACATCATGGGGAACCTGC	0.567000													35	48					0	0	1	0	0
CXorf22	170063	broad.mit.edu	37	X	35944221	35944221	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chrX:35944221G>A	ENST00000297866.5	+	2	403	c.337G>A	c.(337-339)Gaa>Aaa	p.E113K		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	113								p.E113Q(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						TGATAAAGACGAAGACACTTT	0.373000													18	24					0	0	1	0	0
MYH8	4626	broad.mit.edu	37	17	10307704	10307704	+	Silent	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr17:10307704C>T	ENST00000403437.2	-	22	2725	c.2631G>A	c.(2629-2631)gaG>gaA	p.E877E	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	877					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						CCATTTTTTCCTCTAGCTCCT	0.433000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				34	9					0	0	1	0	0
MYO3A	53904	broad.mit.edu	37	10	26446413	26446413	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr10:26446413C>T	ENST00000265944.5	+	26	3134	c.2968C>T	c.(2968-2970)Cat>Tat	p.H990Y	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	990	Myosin head-like.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						AGGATTCTCCCATCGGATACT	0.353000													26	47					0	0	1	0	0
SYT1	6857	broad.mit.edu	37	12	79747381	79747381	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr12:79747381G>A	ENST00000261205.4	+	9	1567	c.910G>A	c.(910-912)Gat>Aat	p.D304N	SYT1_ENST00000393240.3_Missense_Mutation_p.D304N|SYT1_ENST00000457153.2_Missense_Mutation_p.D301N|SYT1_ENST00000552744.1_Missense_Mutation_p.D304N	NM_005639.2	NP_005630.1	P21579	SYT1_HUMAN	synaptotagmin I	304	C2 2.|Phospholipid binding (Probable).				detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization	cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6)	25						GAAGAAGATGGATGTGGGTGG	0.473000													78	143					0	0	1	0	0
PCDHA11	56138	broad.mit.edu	37	5	140250386	140250386	+	Silent	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr5:140250386G>A	ENST00000398640.2	+	1	1698	c.1698G>A	c.(1696-1698)gcG>gcA	p.A566A	PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000307360.5_Intron	NM_018902.3	NP_061725.1														breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACTGCTGGCGACTCAGGCTG	0.687000													56	79					0	0	1	0	0
HABP2	3026	broad.mit.edu	37	10	115337888	115337888	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr10:115337888G>A	ENST00000537906.1	+	7	680	c.518G>A	c.(517-519)gGa>gAa	p.G173E	HABP2_ENST00000542051.1_Silent_p.G158G|HABP2_ENST00000541666.1_Silent_p.G184G|HABP2_ENST00000351270.3_Silent_p.G184G			Q14520	HABP2_HUMAN	hyaluronan binding protein 2	0	EGF-like 3.				cell adhesion|proteolysis	extracellular space	glycosaminoglycan binding|serine-type endopeptidase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.0233)|Breast(234;0.0672)		Epithelial(162;0.00319)|all cancers(201;0.0112)		AGTTCAAGGGGAAATTCTGTG	0.547000													23	50					0	0	1	0	0
CACNG2	10369	broad.mit.edu	37	22	36960648	36960648	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr22:36960648G>A	ENST00000300105.6	-	4	1703	c.722C>T	c.(721-723)tCg>tTg	p.S241L		NM_006078.3	NP_006069.1	Q9Y698	CCG2_HUMAN	calcium channel, voltage-dependent, gamma subunit 2	241					membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	18						CGTGGAGCGCGAGCTGGAGCG	0.697000													48	14					0	0	1	0	0
MFSD6L	162387	broad.mit.edu	37	17	8701183	8701183	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr17:8701183G>A	ENST00000329805.4	-	1	1484	c.1256C>T	c.(1255-1257)cCg>cTg	p.P419L		NM_152599.3	NP_689812.3	Q8IWD5	MFS6L_HUMAN	major facilitator superfamily domain containing 6-like	419						integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|skin(4)	17						AGCTTTGAACGGATGAAGCAG	0.577000													65	26					0	0	1	0	0
FOXN3	1112	broad.mit.edu	37	14	89647069	89647069	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr14:89647069G>A	ENST00000345097.4	-	6	1009	c.893C>T	c.(892-894)cCc>cTc	p.P298L	FOXN3_ENST00000555353.1_Missense_Mutation_p.P276L|FOXN3_ENST00000557258.1_Missense_Mutation_p.P276L|FOXN3_ENST00000261302.5_Missense_Mutation_p.P298L	NM_001085471.1	NP_001078940.1	O00409	FOXN3_HUMAN	forkhead box N3	298					DNA damage checkpoint|embryo development|G2 phase of mitotic cell cycle|negative regulation of transcription, DNA-dependent|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein C-terminus 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			endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CACCCCAATGGGAGTGATTGG	0.627000													6	2					0	0	1	0	0
STPG2	285555	broad.mit.edu	37	4	98761974	98761974	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr4:98761974G>A	ENST00000295268.3	-	9	1243	c.1154C>T	c.(1153-1155)tCt>tTt	p.S385F	STPG2_ENST00000506482.1_Intron	NM_174952.2	NP_777612.1			sperm-tail PG-rich repeat containing 2																		ACTAAGAAAAGAGGCATGTTT	0.403000													7	58					0	0	1	0	0
PIGA	5277	broad.mit.edu	37	X	15349684	15349684	+	Silent	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chrX:15349684C>T	ENST00000333590.4	-	2	453	c.369G>A	c.(367-369)acG>acA	p.T123T	PIGA_ENST00000542278.1_Intron|PIGA_ENST00000428964.1_Intron|PIGA_ENST00000482148.1_Intron	NM_002641.3	NP_002632.1	P37287	PIGA_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class A	123					C-terminal protein lipidation|positive regulation of metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity|protein binding			endometrium(2)|kidney(2)|large_intestine(2)|ovary(1)|prostate(2)|urinary_tract(1)	10	Hepatocellular(33;0.183)					AATGGATTATCGTGACTCTCT	0.468000													44	55					0	0	1	0	0
ATCAY	85300	broad.mit.edu	37	19	3905454	3905454	+	Silent	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr19:3905454C>T	ENST00000450849.2	+	4	626	c.159C>T	c.(157-159)ttC>ttT	p.F53F	ATCAY_ENST00000301260.6_Silent_p.F53F|ATCAY_ENST00000398448.3_Silent_p.F59F|ATCAY_ENST00000600960.1_Silent_p.F53F	NM_033064.4	NP_149053.1	Q86WG3	ATCAY_HUMAN	ataxia, cerebellar, Cayman type	53					transport		protein binding	p.F53F(2)		breast(1)|endometrium(2)|kidney(2)|lung(2)	7		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00485)|STAD - Stomach adenocarcinoma(1328;0.183)		CGCTAAATTTCAACGGAGCGC	0.488000													10	15					0	0	1	0	0
PCK1	5105	broad.mit.edu	37	20	56137858	56137858	+	Silent	SNP	G	G	A	rs147708648		TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr20:56137858G>A	ENST00000319441.4	+	4	677	c.513G>A	c.(511-513)cgG>cgA	p.R171R	PCK1_ENST00000535860.1_Silent_p.R39R|PCK1_ENST00000543666.1_Intron	NM_002591.3	NP_002582.3	P35558	PCKGC_HUMAN	phosphoenolpyruvate carboxykinase 1 (soluble)	171					gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			CCAGCATGCGGATCATGACGC	0.592000													18	27					0	0	1	0	0
NUP62CL	54830	broad.mit.edu	37	X	106410910	106410910	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chrX:106410910C>T	ENST00000372466.4	-	4	414	c.163G>A	c.(163-165)Gaa>Aaa	p.E55K	NUP62CL_ENST00000372461.3_Missense_Mutation_p.E55K	NM_017681.2	NP_060151.2	Q9H1M0	N62CL_HUMAN	nucleoporin 62kDa C-terminal like	55					protein transport	nuclear pore	structural constituent of nuclear pore			lung(4)	4						ACAAGGTTTTCAAACCCTCTT	0.373000													73	102					0	0	1	0	0
PRDM2	7799	broad.mit.edu	37	1	14107155	14107155	+	Silent	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr1:14107155C>T	ENST00000235372.7	+	8	3721	c.2865C>T	c.(2863-2865)tcC>tcT	p.S955S	PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000413440.1_Silent_p.S754S|PRDM2_ENST00000311066.5_Silent_p.S955S|PRDM2_ENST00000343137.4_Silent_p.S754S	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	955	Pro-rich.					Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		AGACACCCTCCCTTTCATCCG	0.607000													104	31					0	0	1	0	0
PDIA5	10954	broad.mit.edu	37	3	122808134	122808134	+	Silent	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr3:122808134C>T	ENST00000316218.7	+	2	257	c.162C>T	c.(160-162)tcC>tcT	p.S54S		NM_006810.3	NP_006801.1	Q14554	PDIA5_HUMAN	protein disulfide isomerase family A, member 5	54					cell redox homeostasis|glycerol ether metabolic process|protein folding|response to stress	endoplasmic reticulum lumen	electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	21				GBM - Glioblastoma multiforme(114;0.0427)		TGCTTTACTCCAAATCTGGTG	0.512000													44	73					0	0	1	0	0
CLHC1	130162	broad.mit.edu	37	2	55436561	55436561	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr2:55436561G>A	ENST00000401408.1	-	7	1138	c.793C>T	c.(793-795)Cag>Tag	p.Q265*	CLHC1_ENST00000406076.1_Nonsense_Mutation_p.Q143*|CLHC1_ENST00000406437.2_Intron|CLHC1_ENST00000407122.1_Nonsense_Mutation_p.Q265*|CLHC1_ENST00000494539.1_Intron	NM_152385.2	NP_689598.2			clathrin heavy chain linker domain containing 1																		TTGGTTTTCTGAATTTGCTCC	0.323000													61	43					0	0	1	0	0
CHCHD1	118487	broad.mit.edu	37	10	75542922	75542922	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr10:75542922C>T	ENST00000372833.5	+	3	347	c.334C>T	c.(334-336)Cct>Tct	p.P112S	CHCHD1_ENST00000372837.3_3'UTR	NM_203298.2	NP_976043.1	Q96BP2	CHCH1_HUMAN	coiled-coil-helix-coiled-coil-helix domain containing 1	112						nucleus				breast(1)	1	Prostate(51;0.0112)					ACAGAGGTTTCCTAACAAACC	0.388000													35	33					0	0	1	0	0
SLC36A2	153201	broad.mit.edu	37	5	150722465	150722465	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr5:150722465G>A	ENST00000335244.4	-	4	553	c.424C>T	c.(424-426)Cac>Tac	p.H142Y	SLC36A2_ENST00000521967.1_Missense_Mutation_p.H142Y	NM_181776.2	NP_861441.2	Q495M3	S36A2_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 2	142					cellular nitrogen compound metabolic process	cytoplasm|integral to membrane|plasma membrane	glycine transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(14)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CAGTGAGCGTGATTCTGGAGC	0.527000													24	24					0	0	1	0	0
DCDC1	341019	broad.mit.edu	37	11	30900213	30900213	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr11:30900213C>T	ENST00000597505.1	-	36	5269	c.5270G>A	c.(5269-5271)cGa>cAa	p.R1757Q				P59894	DCDC1_HUMAN	doublecortin domain containing 1	0					intracellular signal transduction					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					CTGCTGCCTTCGGATTCTGGC	0.413000													16	28					0	0	1	0	0
IGHMBP2	3508	broad.mit.edu	37	11	68675694	68675694	+	Missense_Mutation	SNP	C	C	T	rs147001168		TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr11:68675694C>T	ENST00000255078.3	+	3	449	c.338C>T	c.(337-339)tCg>tTg	p.S113L	IGHMBP2_ENST00000539224.1_Missense_Mutation_p.S113L	NM_002180.2	NP_002171.2	P38935	SMBP2_HUMAN	immunoglobulin mu binding protein 2	113					cell death|DNA recombination|DNA repair|DNA replication|protein homooligomerization|transcription, DNA-dependent|translation	axon|growth cone|nucleus|ribonucleoprotein complex	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|transcription factor binding|tRNA binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			ACCCAGAAGTCGGTCACGGTG	0.512000													326	77					0	0	1	0	0
PLEKHG4B	153478	broad.mit.edu	37	5	161931	161931	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr5:161931G>A	ENST00000283426.6	+	10	1503	c.1453G>A	c.(1453-1455)Gag>Aag	p.E485K		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	485					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)		GCTGGCGAAGGAGAACCCGCA	0.587000													20	31					0	0	1	0	0
IL36B	27177	broad.mit.edu	37	2	113785663	113785663	+	Silent	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr2:113785663C>T	ENST00000327407.2	-	5	398	c.291G>A	c.(289-291)gaG>gaA	p.E97E	IL36B_ENST00000259213.4_Intron	NM_173178.1	NP_775270.1	Q9NZH7	IL36B_HUMAN	interleukin 36, beta	0					immune response	extracellular space	cytokine activity|interleukin-1 receptor binding			kidney(1)|ovary(1)|pancreas(1)	3						GTGCTTTCTTCTCCACATACA	0.463000													36	41					0	0	1	0	0
MCHR1	2847	broad.mit.edu	37	22	41075535	41075535	+	Missense_Mutation	SNP	C	C	T	rs150937708		TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr22:41075535C>T	ENST00000249016.4	+	1	782	c.86C>T	c.(85-87)cCc>cTc	p.P29L	MCHR1_ENST00000381433.2_Missense_Mutation_p.P29L|MCHR1_ENST00000498400.1_Intron	NM_005297.3	NP_005288.3	Q99705	MCHR1_HUMAN	melanin-concentrating hormone receptor 1	29					elevation of cytosolic calcium ion concentration|feeding behavior|generation of precursor metabolites and energy|inhibition of adenylate cyclase activity by G-protein signaling pathway	integral to plasma membrane|nonmotile primary cilium	neuropeptide receptor activity			endometrium(5)|large_intestine(7)|lung(6)|pancreas(1)|urinary_tract(1)	20						GAGGAAGACCCCCTTCCCAAC	0.662000													9	31					0	0	1	0	0
DCC	1630	broad.mit.edu	37	18	51056987	51056987	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr18:51056987G>A	ENST00000442544.2	+	29	4924	c.4308G>A	c.(4306-4308)atG>atA	p.M1436I	RP11-671P2.1_ENST00000582064.1_RNA	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	1436					apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		AAGGACTCATGAAGCAGCTTA	0.393000													41	46					0	0	1	0	0
OR13C4	138804	broad.mit.edu	37	9	107289440	107289440	+	Silent	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr9:107289440G>A	ENST00000277216.3	-	1	50	c.51C>T	c.(49-51)ctC>ctT	p.L17L		NM_001001919.1	NP_001001919.1	Q8NGS5	O13C4_HUMAN	olfactory receptor, family 13, subfamily C, member 4	17					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(2)|lung(14)|skin(1)	18						GGTAACCAGAGAGTCCCAGAA	0.393000													36	52					0	0	1	0	0
FERMT1	55612	broad.mit.edu	37	20	6100193	6100193	+	Silent	SNP	T	T	G			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr20:6100193T>G	ENST00000217289.4	-	2	797	c.9A>C	c.(7-9)tcA>tcC	p.S3S	FERMT1_ENST00000536936.1_5'UTR	NM_017671.4	NP_060141.3	Q9BQL6	FERM1_HUMAN	fermitin family member 1	3					cell adhesion|establishment of epithelial cell polarity|keratinocyte migration|keratinocyte proliferation	cytosol|focal adhesion|ruffle membrane	binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	17						AGTCAGTGGATGACAGCATTG	0.488000													17	21					0	0	1	0	0
ZNF556	80032	broad.mit.edu	37	19	2876264	2876264	+	Silent	SNP	A	A	C			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr19:2876264A>C	ENST00000586426.1	+	3	391	c.304A>C	c.(304-306)Aga>Cga	p.R102R	ZNF556_ENST00000307635.2_Silent_p.R102R			Q9HAH1	ZN556_HUMAN	zinc finger protein 556	102					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7)	31				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CACCAAGGAGAGACATTTGAG	0.458000													53	76					0	0	1	0	0
CYP2C18	1562	broad.mit.edu	37	10	96447961	96447961	+	Silent	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr10:96447961G>A	ENST00000285979.6	+	3	610	c.411G>A	c.(409-411)ggG>ggA	p.G137G	CYP2C19_ENST00000464755.1_3'UTR|CYP2C18_ENST00000339022.5_Silent_p.G137G	NM_000772.2	NP_000763.1			cytochrome P450, family 2, subfamily C, polypeptide 18											NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	26		Colorectal(252;0.09)		all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805)		TTGGGATGGGGAAGAGGAGCA	0.473000													37	36					0	0	1	0	0
TACC1	6867	broad.mit.edu	37	8	38677202	38677202	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr8:38677202C>T	ENST00000379931.3	+	3	819	c.440C>T	c.(439-441)tCc>tTc	p.S147F	TACC1_ENST00000522752.1_Intron|TACC1_ENST00000443286.2_Missense_Mutation_p.S163F|TACC1_ENST00000276520.8_Intron|TACC1_ENST00000520615.1_5'UTR|TACC1_ENST00000330691.6_Intron|TACC1_ENST00000348567.4_Intron|TACC1_ENST00000317827.4_Missense_Mutation_p.S147F|TACC1_ENST00000519416.1_5'UTR|TACC1_ENST00000520340.1_Missense_Mutation_p.S111F|TACC1_ENST00000518415.1_Missense_Mutation_p.S102F|TACC1_ENST00000520973.1_5'UTR			O75410	TACC1_HUMAN	transforming, acidic coiled-coil containing protein 1	147					cell cycle|cell division	intermediate filament cytoskeleton|microtubule organizing center|nucleus	protein binding			breast(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(3)	17		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.065)	LUSC - Lung squamous cell carcinoma(45;1.7e-09)|COAD - Colon adenocarcinoma(9;0.235)			AGCAAAATTTCCATCGTGAGG	0.443000													41	14					0	0	1	0	0
TUBB1	81027	broad.mit.edu	37	20	57598943	57598943	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr20:57598943A>T	ENST00000217133.1	+	4	730	c.461A>T	c.(460-462)aAg>aTg	p.K154M		NM_030773.3	NP_110400.1	Q9H4B7	TBB1_HUMAN	tubulin, beta 1 class VI	154					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|skin(2)	16	all_lung(29;0.00711)		Colorectal(105;0.109)		Colchicine(DB01394)|Docetaxel(DB01248)|Paclitaxel(DB01229)|Vindesine(DB00309)	CTCATGAACAAGATTAGAGAG	0.597000													55	71					0	0	1	0	0
FABP9	646480	broad.mit.edu	37	8	82371429	82371429	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr8:82371429C>T	ENST00000379071.2	-	2	272	c.217G>A	c.(217-219)Gaa>Aaa	p.E73K	RP11-157I4.4_ENST00000524085.2_RNA	NM_001080526.1	NP_001073995.1	Q0Z7S8	FABP9_HUMAN	fatty acid binding protein 9, testis	73							lipid binding|transporter activity			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	6			Epithelial(68;0.186)			GCTGTAGTTTCATCAAATTCT	0.398000													63	43					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	114326902	114326902	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr8:114326902C>T	ENST00000297405.5	-	2	543	c.299G>A	c.(298-300)cGa>cAa	p.R100Q	CSMD3_ENST00000455883.2_Missense_Mutation_p.R100Q|CSMD3_ENST00000352409.3_Missense_Mutation_p.R100Q|CSMD3_ENST00000343508.3_Missense_Mutation_p.R60Q	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	100	CUB 1.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TATTCTATTTCGTTCTTCTGC	0.353000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			7	57					0	0	1	0	0
CD3D	915	broad.mit.edu	37	11	118209899	118209899	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr11:118209899C>T	ENST00000300692.4	-	5	630	c.494G>A	c.(493-495)gGa>gAa	p.G165E	CD3D_ENST00000529594.1_Missense_Mutation_p.G92E|CD3D_ENST00000392884.2_Missense_Mutation_p.G121E	NM_000732.4	NP_000723.1	P04234	CD3D_HUMAN	CD3d molecule, delta (CD3-TCR complex)	165	ITAM.				positive thymic T cell selection|T cell costimulation|T cell receptor signaling pathway	cytoplasm|integral to membrane	protein heterodimerization activity			large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	9	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)		AGCCCAGTTTCCTCCAAGGTG	0.502000													44	14					0	0	1	0	0
DSG2	1829	broad.mit.edu	37	18	29102104	29102104	+	Silent	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr18:29102104G>A	ENST00000261590.8	+	6	791	c.582G>A	c.(580-582)tcG>tcA	p.S194S	DSG2_ENST00000585206.1_Silent_p.S194S	NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	194	Cadherin 2.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	p.S194S(1)		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)			CCCTGAATTCGAAAATTTCCT	0.368000													20	37					0	0	1	0	0
YTHDC2	64848	broad.mit.edu	37	5	112899684	112899684	+	Silent	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr5:112899684C>T	ENST00000161863.4	+	20	2784	c.2571C>T	c.(2569-2571)atC>atT	p.I857I		NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	857							ATP binding|ATP-dependent helicase activity|nucleic acid binding			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)		TGGACCCCATCCTTACAATTG	0.428000													60	69					0	0	1	0	0
CCDC147	159686	broad.mit.edu	37	10	106160654	106160654	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr10:106160654G>A	ENST00000369704.3	+	13	2166	c.2032G>A	c.(2032-2034)Gaa>Aaa	p.E678K		NM_001008723.1	NP_001008723.1	Q5T655	CC147_HUMAN	coiled-coil domain containing 147	678										NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		TAATGTTGAAGAACTCAGGTA	0.468000													24	34					0	0	1	0	0
ALG13	79868	broad.mit.edu	37	X	110951451	110951451	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chrX:110951451C>T	ENST00000394780.3	+	4	592	c.580C>T	c.(580-582)Cct>Tct	p.P194S	ALG13_ENST00000251943.4_Missense_Mutation_p.P90S|ALG13-AS1_ENST00000430794.1_RNA	NM_001099922.2|NM_001257231.1	NP_001093392.1|NP_001244160.1	Q9NP73	ALG13_HUMAN	ALG13, UDP-N-acetylglucosaminyltransferase subunit	194					dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane	carbohydrate binding|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity			endometrium(2)|lung(10)|skin(1)	13						CGCTTTTTTTCCTCTCCCTCT	0.468000													30	43					0	0	1	0	0
C6orf226	441150	broad.mit.edu	37	6	42858348	42858348	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr6:42858348G>A	ENST00000408925.2	-	1	206	c.179C>T	c.(178-180)cCc>cTc	p.P60L		NM_001008739.1	NP_001008739.1	Q5I0X4	CF226_HUMAN	chromosome 6 open reading frame 226	60										lung(2)	2						GGCCTCCCAGGGCTTGGGCCT	0.711000													53	13					0	0	1	0	0
ADRA2A	150	broad.mit.edu	37	10	112839005	112839005	+	Silent	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr10:112839005C>T	ENST00000280155.2	+	1	2216	c.1251C>T	c.(1249-1251)tcC>tcT	p.S417S		NM_000681.3	NP_000672.3	P08913	ADA2A_HUMAN	adrenoceptor alpha 2A	402					actin cytoskeleton organization|activation of MAPK activity by adrenergic receptor signaling pathway|activation of phospholipase C activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cellular component movement|cellular response to hormone stimulus|energy reserve metabolic process|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|glucose homeostasis|inhibition of adenylate cyclase activity by adrenergic receptor signaling pathway|intestinal absorption|negative regulation of adrenergic receptor signaling pathway|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cAMP biosynthetic process|negative regulation of epinephrine secretion|negative regulation of insulin secretion involved in cellular response to glucose stimulus|negative regulation of lipid catabolic process|negative regulation of norepinephrine secretion|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cytokine production|positive regulation of membrane protein ectodomain proteolysis|positive regulation of potassium ion transport|positive regulation of wound healing|Rho protein signal transduction	basolateral plasma membrane|cytoplasm|integral to plasma membrane|receptor complex	alpha-1B adrenergic receptor binding|alpha-2C adrenergic receptor binding|alpha2-adrenergic receptor activity|epinephrine binding|heterotrimeric G-protein binding|norepinephrine binding|protein heterodimerization activity|protein homodimerization activity|protein kinase binding|thioesterase binding			breast(1)|cervix(3)|endometrium(6)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(234;0.0735)|Lung NSC(174;0.238)		Epithelial(162;0.000316)|all cancers(201;0.00501)|BRCA - Breast invasive adenocarcinoma(275;0.118)	Amitriptyline(DB00321)|Amphetamine(DB00182)|Apraclonidine(DB00964)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Brimonidine(DB00484)|Clonidine(DB00575)|Debrisoquin(DB04840)|Dexmedetomidine(DB00633)|Dipivefrin(DB00449)|Epinastine(DB00751)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanabenz(DB00629)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Guanfacine(DB01018)|Lofexidine(DB04948)|Methyldopa(DB00968)|Mianserin(DB06148)|Mirtazapine(DB00370)|Norepinephrine(DB00368)|Oxymetazoline(DB00935)|Phentolamine(DB00692)|Phenylpropanolamine(DB00397)|Pseudoephedrine(DB00852)|Tizanidine(DB00697)|Trazodone(DB00656)|Yohimbine(DB01392)	TCGGGTGCTCCGTGCCACGCA	0.577000													37	67					0	0	1	0	0
CYP2C18	1562	broad.mit.edu	37	10	96466541	96466541	+	Splice_Site	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr10:96466541G>A	ENST00000285979.6	+	5	842	c.642_splice	c.e5-1	p.V215_splice	CYP2C19_ENST00000464755.1_3'UTR|CYP2C18_ENST00000339022.5_Intron	NM_000772.2	NP_000763.1			cytochrome P450, family 2, subfamily C, polypeptide 18											NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	26		Colorectal(252;0.09)		all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805)		aatCTTTAAGGTCTGCAATAA	0.279000													12	14					0	0	1	0	0
NMUR2	56923	broad.mit.edu	37	5	151784168	151784168	+	Silent	SNP	G	G	A	rs141055680	byFrequency	TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr5:151784168G>A	ENST00000255262.3	-	1	672	c.507C>T	c.(505-507)atC>atT	p.I169I	NMUR2_ENST00000518933.1_Intron	NM_020167.4	NP_064552.3	Q9GZQ4	NMUR2_HUMAN	neuromedin U receptor 2	169					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction	integral to membrane|plasma membrane	GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	44		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)			AGCCCCAGACGATGCCGAGGA	0.642000													37	50					0	0	1	0	0
SCRN1	9805	broad.mit.edu	37	7	29963608	29963608	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr7:29963608C>T	ENST00000426154.1	-	8	1386	c.1210G>A	c.(1210-1212)Gac>Aac	p.D404N	SCRN1_ENST00000242059.5_Missense_Mutation_p.D404N|SCRN1_ENST00000416113.2_Missense_Mutation_p.D230N|SCRN1_ENST00000409497.1_Missense_Mutation_p.D404N	NM_001145513.1	NP_001138985.1	Q12765	SCRN1_HUMAN	secernin 1	404					exocytosis|proteolysis	cytoplasm|nuclear membrane	dipeptidase activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(2)|prostate(2)|skin(2)	25						TCAACACAGTCATAGAAAAGG	0.483000													50	77					0	0	1	0	0
TAS2R4	50832	broad.mit.edu	37	7	141478946	141478946	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr7:141478946C>T	ENST00000247881.2	+	1	705	c.658C>T	c.(658-660)Ccc>Tcc	p.P220S	SSBP1_ENST00000465582.1_Intron	NM_016944.1	NP_058640.1	Q9NYW5	TA2R4_HUMAN	taste receptor, type 2, member 4	220					sensory perception of taste	cilium membrane	taste receptor activity			endometrium(1)|large_intestine(4)|lung(2)	7	Melanoma(164;0.0171)			BRCA - Breast invasive adenocarcinoma(188;0.196)		TTTCTGGAATCCCCAGACGGA	0.443000													56	62					0	0	1	0	0
MYO15A	51168	broad.mit.edu	37	17	18044116	18044116	+	Silent	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr17:18044116C>T	ENST00000205890.5	+	21	5714	c.5376C>T	c.(5374-5376)ttC>ttT	p.F1792F	MYO15A_ENST00000412324.1_3'UTR	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	1792	Actin-binding (Potential).|Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					ACCCCTTGTTCATGCGTTGCC	0.562000											OREG0024223	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	25	12					0	0	1	0	0
LRBA	987	broad.mit.edu	37	4	151520200	151520200	+	Missense_Mutation	SNP	G	G	A	rs111883007		TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr4:151520200G>A	ENST00000535741.1	-	38	6478	c.6005C>T	c.(6004-6006)tCg>tTg	p.S2002L	LRBA_ENST00000510413.1_Missense_Mutation_p.S2002L|LRBA_ENST00000357115.3_Missense_Mutation_p.S2002L|LRBA_ENST00000507224.1_Missense_Mutation_p.S2002L			P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	2002						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					AGGATGTGTCGATCCTAGAGG	0.498000													47	25					0	0	1	0	0
APLNR	187	broad.mit.edu	37	11	57004104	57004104	+	Silent	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr11:57004104G>A	ENST00000606794.1	-	1	571	c.375C>T	c.(373-375)ttC>ttT	p.F125F		NM_005161.4	NP_005152.1	P35414	APJ_HUMAN	apelin receptor	125						integral to plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						GGTAGCGGTCGAAGCTGAGGC	0.632000													10	9					0	0	1	0	0
KLHL36	79786	broad.mit.edu	37	16	84691051	84691051	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr16:84691051C>T	ENST00000564996.1	+	3	779	c.638C>T	c.(637-639)gCc>gTc	p.A213V	KLHL36_ENST00000258157.5_Missense_Mutation_p.A213V	NM_024731.2	NP_079007.2	Q8N4N3	KLH36_HUMAN	kelch-like family member 36	213	BACK.									endometrium(3)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						CTCCTGCAGGCCGCCCTGCAG	0.647000													11	4					0	0	1	0	0
RBP3	5949	broad.mit.edu	37	10	48388731	48388731	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr10:48388731G>A	ENST00000224600.4	-	1	2260	c.2147C>T	c.(2146-2148)cCa>cTa	p.P716L		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	716	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	AGCAGGGGGTGGTGGGGGTGC	0.627000													28	20					0	0	1	0	0
NOX3	50508	broad.mit.edu	37	6	155764506	155764506	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr6:155764506C>T	ENST00000159060.2	-	5	489	c.387G>A	c.(385-387)tgG>tgA	p.W129*		NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN	NADPH oxidase 3	129	Ferric oxidoreductase.						electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		CGGACTGGCTCCAGTGGTAGC	0.582000													18	21					0	0	1	0	0
TACC2	10579	broad.mit.edu	37	10	123842403	123842403	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr10:123842403G>A	ENST00000369005.1	+	4	728	c.388G>A	c.(388-390)Gaa>Aaa	p.E130K	TACC2_ENST00000453444.2_Missense_Mutation_p.E130K|TACC2_ENST00000515603.1_Missense_Mutation_p.E130K|TACC2_ENST00000515273.1_Missense_Mutation_p.E130K|TACC2_ENST00000334433.3_Missense_Mutation_p.E130K|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000358010.1_Intron	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	130						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				AGCGGCACCTGAAGATGGTCC	0.642000													24	39					0	0	1	0	0
HHLA2	11148	broad.mit.edu	37	3	108072515	108072515	+	Silent	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr3:108072515G>A	ENST00000357759.5	+	4	720	c.306G>A	c.(304-306)ggG>ggA	p.G102G	HHLA2_ENST00000489514.2_Silent_p.G102G|HHLA2_ENST00000467761.1_Silent_p.G102G|HHLA2_ENST00000467562.1_Intron|HHLA2_ENST00000491820.1_Silent_p.G102G	NM_007072.2	NP_009003.1	Q9UM44	HHLA2_HUMAN	HERV-H LTR-associating 2	102	Ig-like V-type 1.					integral to membrane				endometrium(2)|large_intestine(1)|lung(14)|ovary(1)	18						TTCAAAATGGGAATGCGTCGC	0.403000													23	30					0	0	1	0	0
DCDC1	341019	broad.mit.edu	37	11	31327180	31327180	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr11:31327180G>A	ENST00000597505.1	-	4	735	c.736C>T	c.(736-738)Cca>Tca	p.P246S	DCDC1_ENST00000452803.1_Missense_Mutation_p.P246S			P59894	DCDC1_HUMAN	doublecortin domain containing 1	246	Doublecortin.				intracellular signal transduction					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					TTTTTGAATGGATTTAAAAAG	0.393000													33	59					0	0	1	0	0
OR2T33	391195	broad.mit.edu	37	1	248436359	248436359	+	Missense_Mutation	SNP	G	G	A	rs113574656	byFrequency	TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr1:248436359G>A	ENST00000318021.2	-	1	779	c.758C>T	c.(757-759)gCc>gTc	p.A253V		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	253					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A253V(1)		NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			GGTAAAAATGGCAGCTCCATA	0.498000													134	38					0	0	1	0	0
OR2M3	127062	broad.mit.edu	37	1	248366863	248366863	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr1:248366863C>T	ENST00000456743.1	+	1	532	c.494C>T	c.(493-495)tCc>tTc	p.S165F		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	165					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			GCAACATTTTCCTTCTCCTAC	0.433000													346	40					0	0	1	0	0
KIAA1217	56243	broad.mit.edu	37	10	24833228	24833228	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr10:24833228G>A	ENST00000376451.2	+	14	4338	c.4078G>A	c.(4078-4080)Gaa>Aaa	p.E1360K	KIAA1217_ENST00000376454.3_Missense_Mutation_p.E1677K|KIAA1217_ENST00000376462.1_Intron|KIAA1217_ENST00000396445.1_Intron|KIAA1217_ENST00000396446.1_Intron|KIAA1217_ENST00000458595.1_Intron|KIAA1217_ENST00000307544.6_Intron|KIAA1217_ENST00000376452.3_Intron			Q5T5P2	SKT_HUMAN	KIAA1217	1677					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						TAAACAGCTCGAAAATACAAT	0.433000													30	60					0	0	1	0	0
CELSR3	1951	broad.mit.edu	37	3	48699210	48699210	+	Silent	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr3:48699210G>A	ENST00000544264.1	-	1	1138	c.858C>T	c.(856-858)ttC>ttT	p.F286F	CELSR3_ENST00000164024.4_Silent_p.F286F			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	286					homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GCTGCGGGAGGAAGCGGCAGC	0.721000													18	28					0	0	1	0	0
MED12L	116931	broad.mit.edu	37	3	151105887	151105887	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr3:151105887G>A	ENST00000474524.1	+	35	5311	c.5273G>A	c.(5272-5274)gGa>gAa	p.G1758E	MED12L_ENST00000273432.4_Missense_Mutation_p.G1618E	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	1758					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TCAGATCAGGGAAAAACCACA	0.493000													24	28					0	0	1	0	0
ATP2B2	491	broad.mit.edu	37	3	10428176	10428176	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr3:10428176G>A	ENST00000360273.2	-	7	1366	c.928C>T	c.(928-930)Ctt>Ttt	p.L310F	ATP2B2_ENST00000352432.4_Missense_Mutation_p.L310F|ATP2B2_ENST00000343816.4_Missense_Mutation_p.L310F|ATP2B2_ENST00000397077.1_Intron|ATP2B2_ENST00000383800.4_Intron	NM_001001331.2	NP_001001331.1	Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	310					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						GGTAGCTGAAGGCCATCCCCC	0.522000													27	29					0	0	1	0	0
PRKAR2B	5577	broad.mit.edu	37	7	106797452	106797452	+	Silent	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr7:106797452C>T	ENST00000265717.4	+	9	1201	c.942C>T	c.(940-942)ttC>ttT	p.F314F		NM_002736.2	NP_002727.2	P31323	KAP3_HUMAN	protein kinase, cAMP-dependent, regulatory, type II, beta	314					activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G2/M transition of mitotic cell cycle|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|transmembrane transport|water transport	centrosome|cytosol|plasma membrane	cAMP binding|cAMP-dependent protein kinase regulator activity			breast(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	14						ATTCTTTTTTCATTGTAGAAT	0.348000													45	60					0	0	1	0	0
GABBR2	9568	broad.mit.edu	37	9	101125000	101125000	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr9:101125000C>T	ENST00000259455.2	-	13	2349	c.1890G>A	c.(1888-1890)atG>atA	p.M630I		NM_005458.7	NP_005449.5	O75899	GABR2_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 2	630					negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity		NOTCH1_ENST00000277541/GABBR2(2)	breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	GGCTTACCTCCATGCTGTACT	0.617000													9	14					0	0	1	0	0
GRID2	2895	broad.mit.edu	37	4	94693236	94693236	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr4:94693236G>A	ENST00000282020.4	+	16	2869	c.2611G>A	c.(2611-2613)Gaa>Aaa	p.E871K	GRID2_ENST00000510992.1_Missense_Mutation_p.E776K	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	871					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	GGATGACAAGGAAATTGACCT	0.393000													45	29					0	0	1	0	0
SLC26A7	115111	broad.mit.edu	37	8	92378934	92378934	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr8:92378934G>A	ENST00000276609.3	+	14	1854	c.1615G>A	c.(1615-1617)Gat>Aat	p.D539N	SLC26A7_ENST00000523719.1_Missense_Mutation_p.D539N|SLC26A7_ENST00000309536.2_Missense_Mutation_p.D539N|SLC26A7_ENST00000520249.1_3'UTR	NM_052832.2	NP_439897.1	Q8TE54	S26A7_HUMAN	solute carrier family 26 (anion exchanger), member 7	539	STAS.					basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			GCCACTTGATGATATCAGCAA	0.313000													12	65					0	0	1	0	0
IQCH	64799	broad.mit.edu	37	15	67713640	67713640	+	Missense_Mutation	SNP	G	G	A	rs140529181		TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr15:67713640G>A	ENST00000335894.4	+	16	2296	c.2230G>A	c.(2230-2232)Gaa>Aaa	p.E744K	IQCH_ENST00000358767.3_Missense_Mutation_p.E480K|IQCH-AS1_ENST00000559298.1_lincRNA|IQCH_ENST00000546225.1_Missense_Mutation_p.E401K|IQCH_ENST00000360277.4_Missense_Mutation_p.E405K	NM_001031715.2	NP_001026885.1	Q86VS3	IQCH_HUMAN	IQ motif containing H	744										NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33				Colorectal(3;0.0856)		GGGTGTGATCGAAGCATTCCC	0.507000													16	13					0	0	1	0	0
MKI67	4288	broad.mit.edu	37	10	129899843	129899843	+	Silent	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr10:129899843G>A	ENST00000368654.3	-	14	9759	c.9384C>T	c.(9382-9384)tcC>tcT	p.S3128S	MKI67_ENST00000368653.3_Silent_p.S2768S	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	3128					cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				CCATCTCTGGGGAGGTCTTCA	0.428000													43	84					0	0	1	0	0
CHGB	1114	broad.mit.edu	37	20	5903280	5903280	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr20:5903280G>A	ENST00000378961.4	+	4	694	c.490G>A	c.(490-492)Gat>Aat	p.D164N		NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN	chromogranin B (secretogranin 1)	164	Poly-Glu.					extracellular region	hormone activity			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						CCAGAGAGAGGATGAGGAGGA	0.547000													29	24					0	0	1	0	0
ABCB11	8647	broad.mit.edu	37	2	169850304	169850304	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr2:169850304C>T	ENST00000263817.6	-	8	824	c.700G>A	c.(700-702)Gga>Aga	p.G234R		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	234	ABC transmembrane type-1 1.				bile acid biosynthetic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	CTGAAAAATCCCAACAGGAAA	0.433000													8	11					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92257826	92257826	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr11:92257826G>A	ENST00000298047.6	+	2	3336	c.3319G>A	c.(3319-3321)Gat>Aat	p.D1107N	FAT3_ENST00000525166.1_Missense_Mutation_p.D957N|FAT3_ENST00000409404.2_Missense_Mutation_p.D1107N|FAT3_ENST00000541502.1_Missense_Mutation_p.D1107N			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1107	Cadherin 10.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AGACATTCTTGATCGGGAGAC	0.438000										TCGA Ovarian(4;0.039)			26	25					0	0	1	0	0
AK8	158067	broad.mit.edu	37	9	135690035	135690035	+	Silent	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr9:135690035C>T	ENST00000298545.3	-	10	1490	c.969G>A	c.(967-969)aaG>aaA	p.K323K	AK8_ENST00000477396.1_5'UTR	NM_152572.2	NP_689785.1	Q96MA6	KAD8_HUMAN	adenylate kinase 8	323	Adenylate kinase.					cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity			NS(1)|kidney(2)|large_intestine(4)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(2)	23						CTGCCATCTCCTTTTCAAAGA	0.522000													12	49					0	0	1	0	0
GAPDH	2597	broad.mit.edu	37	12	6646281	6646281	+	Silent	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr12:6646281G>A	ENST00000229239.5	+	6	1008	c.342G>A	c.(340-342)ggG>ggA	p.G114G	GAPDH_ENST00000396856.1_Silent_p.G39G|GAPDH_ENST00000396861.1_Silent_p.G114G|GAPDH_ENST00000396859.1_Silent_p.G114G|GAPDH_ENST00000396858.1_Silent_p.G72G	NM_002046.4	NP_002037.2	P04406	G3P_HUMAN	glyceraldehyde-3-phosphate dehydrogenase	114	Interaction with WARS.				gluconeogenesis|glycolysis|neuron apoptosis|peptidyl-cysteine S-trans-nitrosylation|protein stabilization	cytosol|membrane|nucleus|perinuclear region of cytoplasm	glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity|NAD binding|peptidyl-cysteine S-nitrosylase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|lung(4)	7					NADH(DB00157)	ATTTGCAGGGGGGAGCCAAAA	0.572000													18	23					0	0	1	0	0
LOC101927079	101927079	broad.mit.edu	37	15	22332687	22332687	+	RNA	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr15:22332687C>T	ENST00000558896.1	+	0	494																											GCAAGAGCATCTCTTTTTCAG	0.443000													23	99					0	0	1	0	0
DSG2	1829	broad.mit.edu	37	18	29111185	29111185	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr18:29111185A>T	ENST00000261590.8	+	9	1459	c.1250A>T	c.(1249-1251)gAt>gTt	p.D417V		NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	417	Cadherin 4.				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)			CAAGCTTTTGATGAGGACACT	0.353000													46	54					0	0	1	0	0
FBXL18	80028	broad.mit.edu	37	7	5540436	5540436	+	Silent	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr7:5540436G>A	ENST00000382368.3	-	3	1587	c.1464C>T	c.(1462-1464)ctC>ctT	p.L488L	FBXL18_ENST00000453700.3_Silent_p.L488L	NM_024963.4	NP_079239.3	Q96ME1	FXL18_HUMAN	F-box and leucine-rich repeat protein 18	488									FBXL18/RNF216(2)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)	21		Ovarian(82;0.0607)		UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13)		CAATCAGCTCGAGGTGTTCCA	0.667000													13	8					0	0	1	0	0
GPR65	8477	broad.mit.edu	37	14	88477824	88477824	+	Silent	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr14:88477824G>A	ENST00000267549.3	+	2	1191	c.633G>A	c.(631-633)cgG>cgA	p.R211R	RP11-300J18.2_ENST00000554433.1_RNA	NM_003608.3	NP_003599.2	Q8IYL9	PSYR_HUMAN	G protein-coupled receptor 65	211					actin cytoskeleton reorganization|activation of Rho GTPase activity|apoptosis|immune response|multicellular organismal development|positive regulation of cAMP biosynthetic process|positive regulation of stress fiber assembly|response to acidity	integral to plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)	16						AAGCTGTGCGGCACAATAAAG	0.423000													29	11					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13922356	13922356	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr5:13922356G>A	ENST00000265104.4	-	5	624	c.520C>T	c.(520-522)Cct>Tct	p.P174S		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	174	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)					CTGAGAGCAGGAATGAAGATG	0.552000									Kartagener syndrome				12	35					0	0	1	0	0
C8orf34	116328	broad.mit.edu	37	8	69358701	69358701	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr8:69358701G>A	ENST00000523686.1	+	3	404	c.355G>A	c.(355-357)Gaa>Aaa	p.E119K	C8orf34_ENST00000539993.1_Intron|C8orf34_ENST00000518698.1_Intron|C8orf34_ENST00000348340.2_Intron|C8orf34_ENST00000349492.3_Intron|C8orf34_ENST00000337103.4_Intron			Q49A92	CH034_HUMAN	chromosome 8 open reading frame 34	446					signal transduction		cAMP-dependent protein kinase regulator activity			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			ATCATGTAAGGAAGTCTCTTA	0.328000													15	14					0	0	1	0	0
TRBV20-1	28567	broad.mit.edu	37	7	142334240	142334240	+	RNA	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr7:142334240G>A	ENST00000390394.3	+	0	78																											CATCACGGAAGATGCTGCTGC	0.577000											OREG0018395	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	15					0	0	1	0	0
SLC25A5	292	broad.mit.edu	37	X	118604373	118604373	+	Silent	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chrX:118604373C>T	ENST00000317881.8	+	3	752	c.636C>T	c.(634-636)atC>atT	p.I212I	SLC25A5_ENST00000460013.1_3'UTR	NM_001152.4	NP_001143.2	P05141	ADT2_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 5	212					chromosome segregation|energy reserve metabolic process|interspecies interaction between organisms|regulation of insulin secretion|viral reproduction	integral to plasma membrane|mitochondrial inner membrane|mitochondrial nucleoid|MMXD complex	adenine transmembrane transporter activity|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|stomach(2)	12					Clodronate(DB00720)	ACATCGTCATCAGCTGGATGA	0.498000													38	60					0	0	1	0	0
HAMP	57817	broad.mit.edu	37	19	35775910	35775910	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr19:35775910C>T	ENST00000598398.1	+	4	516	c.220C>T	c.(220-222)Cat>Tat	p.H74Y	HAMP_ENST00000222304.3_Missense_Mutation_p.H74Y	NM_021175.2	NP_066998.1	P81172	HEPC_HUMAN	hepcidin antimicrobial peptide	74					defense response to bacterium|defense response to fungus|immune response|killing of cells of other organism	extracellular region	hormone activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)	4	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)		Epithelial(14;7.4e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.47e-19)|all cancers(14;4.17e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			CGGCTGCTGTCATCGATCAAA	0.562000													30	63					0	0	1	0	0
OTOF	9381	broad.mit.edu	37	2	26690266	26690266	+	Silent	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr2:26690266G>A	ENST00000272371.2	-	34	4320	c.4194C>T	c.(4192-4194)ccC>ccT	p.P1398P	OTOF_ENST00000339598.3_Silent_p.P631P|OTOF_ENST00000403946.3_Silent_p.P1398P|OTOF_ENST00000338581.6_Silent_p.P631P|OTOF_ENST00000402415.3_Silent_p.P708P	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	1398					cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding	p.E1399fs*123(1)|p.E632fs*123(1)		NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCTTCTTCTCGGGGGCCTCGG	0.577000													49	24					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179440704	179440704	+	Silent	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr2:179440704C>T	ENST00000589042.1	-	326	70379	c.70155G>A	c.(70153-70155)ctG>ctA	p.L23385L	TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Silent_p.L21744L|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000460472.2_Silent_p.L14320L|TTN_ENST00000342992.6_Silent_p.L20817L|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342175.6_Silent_p.L14512L|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000359218.5_Silent_p.L14445L|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590932.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	21744	Fibronectin type-III 70.						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)			CTCGGTTTTTCAGGTTGATGT	0.383000													53	83					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179587962	179587962	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr2:179587962G>A	ENST00000589042.1	-	75	21996	c.21772C>T	c.(21772-21774)Cca>Tca	p.P7258S	TTN_ENST00000591111.1_Missense_Mutation_p.P6941S|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.P6014S|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	6941	Ig-like 54.						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)			ACAGAAATTGGAAGTGTTCCA	0.373000													27	32					0	0	1	0	0
LIN28B	389421	broad.mit.edu	37	6	105526626	105526626	+	Missense_Mutation	SNP	G	G	C			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr6:105526626G>C	ENST00000345080.4	+	4	924	c.721G>C	c.(721-723)Ggg>Cgg	p.G241R		NM_001004317.3	NP_001004317.1	Q6ZN17	LN28B_HUMAN	lin-28 homolog B (C. elegans)	241					miRNA catabolic process|pre-miRNA processing|regulation of transcription, DNA-dependent|RNA 3'-end processing	cytoplasm|nucleus	DNA binding|protein binding|RNA binding|zinc ion binding			large_intestine(1)|lung(10)|ovary(1)	12		all_cancers(87;0.00346)|Acute lymphoblastic leukemia(125;2.26e-08)|all_hematologic(75;2.79e-06)|all_epithelial(87;0.204)				AAGCAAAAAGGGGCCTTCAGT	0.463000													18	33					0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176563922	176563922	+	Silent	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr1:176563922C>T	ENST00000367662.3	+	3	2346	c.1182C>T	c.(1180-1182)ccC>ccT	p.P394P	PAPPA2_ENST00000367661.3_Silent_p.P394P	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	394					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			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						AGTCTGGTCCCCTGAACAGCC	0.587000													45	7					0	0	1	0	0
CLEC4D	338339	broad.mit.edu	37	12	8673834	8673834	+	Silent	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr12:8673834G>A	ENST00000299665.2	+	6	808	c.615G>A	c.(613-615)agG>agA	p.R205R		NM_080387.4	NP_525126.2	Q8WXI8	CLC4D_HUMAN	C-type lectin domain family 4, member D	205	C-type lectin.				innate immune response	integral to membrane	sugar binding			large_intestine(4)|lung(6)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Lung SC(5;0.184)					AAGCAAGTAGGATTTGTAAAA	0.368000													30	44					0	0	1	0	0
EIF3L	51386	broad.mit.edu	37	22	38271929	38271929	+	Nonsense_Mutation	SNP	C	C	T	rs11551380		TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr22:38271929C>T	ENST00000412331.2	+	10	1570	c.988C>T	c.(988-990)Cag>Tag	p.Q330*	EIF3L_ENST00000406934.1_Nonsense_Mutation_p.Q232*|EIF3L_ENST00000381683.6_Nonsense_Mutation_p.Q282*	NM_016091.3	NP_057175.1	Q9Y262	EIF3L_HUMAN	eukaryotic translation initiation factor 3, subunit L	330						eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			kidney(2)|large_intestine(3)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						GCGTCGTTACCAGGATGCCAT	0.498000													50	17					0	0	1	0	0
DUS2	54920	broad.mit.edu	37	16	68104928	68104928	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr16:68104928C>T	ENST00000565263.1	+	12	1221	c.727C>T	c.(727-729)Cga>Tga	p.R243*	DUS2L_ENST00000432752.1_Nonsense_Mutation_p.R208*|DUS2L_ENST00000358896.6_Nonsense_Mutation_p.R243*	NM_017803.3	NP_060273.1	Q9NX74	DUS2L_HUMAN		243					tRNA processing	endoplasmic reticulum	double-stranded RNA binding|flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|stomach(1)	24		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0131)|Epithelial(162;0.0564)		GATGGTGGCCCGAGCAGCCAT	0.527000													33	12					0	0	1	0	0
ZNF846	162993	broad.mit.edu	37	19	9868696	9868696	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr19:9868696G>A	ENST00000397902.2	-	6	1470	c.1057C>T	c.(1057-1059)Ctt>Ttt	p.L353F	ZNF846_ENST00000588267.1_Intron|ZNF846_ENST00000592859.1_Intron|ZNF846_ENST00000586293.1_3'UTR	NM_001077624.1	NP_001071092.1	Q147U1	ZN846_HUMAN	zinc finger protein 846	353					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22						TGTTTTGTAAGGTATGAGGAA	0.388000													26	41					0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38843398	38843398	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr6:38843398C>T	ENST00000359357.3	+	51	7255	c.7001C>T	c.(7000-7002)tCc>tTc	p.S2334F	DNAH8_ENST00000441566.1_Missense_Mutation_p.S2298F|DNAH8_ENST00000449981.2_Missense_Mutation_p.S2551F					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TTAATTCCCTCCAAAGAAGAA	0.308000													52	4					0	0	1	0	0
PIK3AP1	118788	broad.mit.edu	37	10	98408561	98408561	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr10:98408561C>T	ENST00000339364.5	-	7	1159	c.1040G>A	c.(1039-1041)gGa>gAa	p.G347E	PIK3AP1_ENST00000371110.2_Missense_Mutation_p.G169E|PIK3AP1_ENST00000468783.1_5'UTR	NM_152309.2	NP_689522.2	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1	347						cytoplasm|plasma membrane				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		GTTCTTCAGTCCATACTTCGC	0.502000													10	14					0	0	1	0	0
DSG4	147409	broad.mit.edu	37	18	28991308	28991308	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr18:28991308G>A	ENST00000359747.4	+	14	2338	c.2309G>A	c.(2308-2310)gGa>gAa	p.G770E	RP11-534N16.1_ENST00000578477.1_RNA|DSG4_ENST00000308128.4_Missense_Mutation_p.G751E|RP11-534N16.1_ENST00000581856.1_RNA	NM_001134453.1	NP_001127925.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	751					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			ggggccgcaggagcctcaggg	0.622000													29	46					0	0	1	0	0
C9orf84	158401	broad.mit.edu	37	9	114486106	114486106	+	Silent	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr9:114486106C>T	ENST00000394779.3	-	10	1855	c.1611G>A	c.(1609-1611)agG>agA	p.R537R	C9orf84_ENST00000394777.4_Silent_p.R537R|C9orf84_ENST00000374287.3_Silent_p.R576R|C9orf84_ENST00000318737.4_Silent_p.R576R	NM_001080551.1	NP_001074020.1	Q5VXU9	CI084_HUMAN	chromosome 9 open reading frame 84	576										breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						TATCTGTTCCCCTTTCCTGAT	0.328000													10	18					0	0	1	0	0
DROSHA	29102	broad.mit.edu	37	5	31526580	31526580	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr5:31526580G>A	ENST00000511367.2	-	4	704	c.460C>T	c.(460-462)Ccc>Tcc	p.P154S	DROSHA_ENST00000442743.1_Missense_Mutation_p.P154S|DROSHA_ENST00000513349.1_Missense_Mutation_p.P154S|DROSHA_ENST00000344624.3_Missense_Mutation_p.P154S	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN	drosha, ribonuclease type III	154	Pro-rich.				gene silencing by RNA|ribosome biogenesis|RNA processing	nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						GGGGGCGGGGGATGAGGCATG	0.567000													11	25					0	0	1	0	0
FRYL	285527	broad.mit.edu	37	4	48563535	48563535	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr4:48563535G>A	ENST00000358350.4	-	33	4419	c.3815C>T	c.(3814-3816)tCc>tTc	p.S1272F	FRYL_ENST00000503238.1_Missense_Mutation_p.S1272F|FRYL_ENST00000507711.1_Missense_Mutation_p.S1272F|FRYL_ENST00000537810.1_Missense_Mutation_p.S1272F|FRYL_ENST00000264319.7_5'UTR	NM_015030.1	NP_055845.1	O94915	FRYL_HUMAN	FRY-like	1272					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						TAGTTCCTCGGACAACTGATA	0.418000													19	56					0	0	1	0	0
TACR2	6865	broad.mit.edu	37	10	71175796	71175796	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr10:71175796C>T	ENST00000373306.4	-	1	827	c.284G>A	c.(283-285)aGc>aAc	p.S95N		NM_001057.2	NP_001048.2	P21452	NK2R_HUMAN	tachykinin receptor 2	95					excretion|muscle contraction	integral to plasma membrane	tachykinin receptor activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	11					Clonidine(DB00575)|Octreotide(DB00104)	GATGTTGTGGCTGGCATAGAC	0.537000													19	28					0	0	1	0	0
SYNDIG1	79953	broad.mit.edu	37	20	24524126	24524126	+	Silent	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr20:24524126G>A	ENST00000376862.3	+	2	1026	c.393G>A	c.(391-393)ggG>ggA	p.G131G		NM_024893.1	NP_079169.1	Q9H7V2	SYNG1_HUMAN	synapse differentiation inducing 1	131					response to biotic stimulus	early endosome membrane|integral to membrane|plasma membrane				breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	24						ACCCGGATGGGAAGTTCATTG	0.597000													68	91					0	0	1	0	0
VWA8	23078	broad.mit.edu	37	13	42460114	42460114	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr13:42460114G>A	ENST00000379310.3	-	8	985	c.917C>T	c.(916-918)tCt>tTt	p.S306F	VWA8_ENST00000281496.6_Missense_Mutation_p.S306F	NM_015058.1	NP_055873.1			von Willebrand factor A domain containing 8																		TCCAAGAGTAGAAGATTCTTG	0.328000													9	4					0	0	1	0	0
CMTR2	55783	broad.mit.edu	37	16	71318599	71318599	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr16:71318599G>A	ENST00000338099.5	-	3	1561	c.1225C>T	c.(1225-1227)Caa>Taa	p.Q409*	FTSJD1_ENST00000434935.2_Nonsense_Mutation_p.Q409*			Q8IYT2	FTSJ1_HUMAN		409						integral to membrane	methyltransferase activity|nucleic acid binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TGTTTCAGTTGAAATTTTTGC	0.308000													13	6					0	0	1	0	0
ZBED1	9189	broad.mit.edu	37	X	2408704	2408704	+	Silent	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chrX:2408704G>A	ENST00000381223.4	-	2	260	c.57C>T	c.(55-57)ccC>ccT	p.P19P	ZBED1_ENST00000381222.2_Silent_p.P19P|ZBED1_ENST00000381218.3_Silent_p.P19P|DHRSX_ENST00000334651.5_Intron	NM_001171135.1|NM_001171136.1|NM_004729.3	NP_001164606.1|NP_001164607.1|NP_004720.1	O96006	ZBED1_HUMAN	zinc finger, BED-type containing 1	19						nuclear chromosome	DNA binding|metal ion binding|protein dimerization activity|transposase activity			endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	25		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TCTTGGCGCGGGGGTGGGCCA	0.592000													68	106					0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61926409	61926409	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr10:61926409G>A	ENST00000280772.1	-	23	2745	c.2554C>T	c.(2554-2556)Cgt>Tgt	p.R852C	ANK3_ENST00000373827.2_Missense_Mutation_p.R846C|ANK3_ENST00000460468.1_Intron|ANK3_ENST00000503366.1_Missense_Mutation_p.R835C	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	852					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TTGGCTTTACGAACTGCATGA	0.318000													15	25					0	0	1	0	0
PCDH11X	27328	broad.mit.edu	37	X	91873772	91873772	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chrX:91873772G>A	ENST00000373094.1	+	7	4722	c.3877G>A	c.(3877-3879)Gat>Aat	p.D1293N	PCDH11X_ENST00000373088.1_Missense_Mutation_p.D1256N|PCDH11X_ENST00000298274.8_Missense_Mutation_p.D1256N|PCDH11X_ENST00000373097.1_Missense_Mutation_p.D1283N|PCDH11X_ENST00000361655.2_Missense_Mutation_p.D1275N|PCDH11X_ENST00000406881.1_Missense_Mutation_p.D1285N|PCDH11X_ENST00000504220.1_3'UTR	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	1293					homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						ATGCTCTGTTGATCAGGGAGT	0.468000													117	167					0	0	1	0	0
GRIN2A	2903	broad.mit.edu	37	16	9923364	9923364	+	Silent	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr16:9923364G>A	ENST00000396573.2	-	10	2232	c.1923C>T	c.(1921-1923)ttC>ttT	p.F641F	GRIN2A_ENST00000404927.2_Silent_p.F641F|GRIN2A_ENST00000535259.1_Silent_p.F484F|GRIN2A_ENST00000330684.3_Silent_p.F641F|GRIN2A_ENST00000562109.1_Silent_p.F641F|GRIN2A_ENST00000396575.2_Silent_p.F641F	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	641					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	AGCTAGCCAGGAATATGACAG	0.502000													27	49					0	0	1	0	0
MMP9	4318	broad.mit.edu	37	20	44641100	44641100	+	Silent	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr20:44641100C>T	ENST00000372330.3	+	8	1228	c.1209C>T	c.(1207-1209)ttC>ttT	p.F403F		NM_004994.2	NP_004985.2	P14780	MMP9_HUMAN	matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	403					collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis	extracellular space|proteinaceous extracellular matrix	collagen binding|metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	46		Myeloproliferative disorder(115;0.0122)			Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641)	CGCATGAGTTCGGCCACGCGC	0.647000													25	33					0	0	1	0	0
NAALAD2	10003	broad.mit.edu	37	11	89868802	89868802	+	Missense_Mutation	SNP	C	C	T	rs139378419		TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr11:89868802C>T	ENST00000534061.1	+	2	388	c.158C>T	c.(157-159)tCc>tTc	p.S53F	NAALAD2_ENST00000375944.3_Missense_Mutation_p.S53F|NAALAD2_ENST00000321955.4_Missense_Mutation_p.S53F|NAALAD2_ENST00000525171.1_Missense_Mutation_p.S53F	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	53					proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				AAACTGGTATCCGAAATGAAA	0.328000													28	40					0	0	1	0	0
TRIM51HP	440041	broad.mit.edu	37	11	55062994	55062994	+	RNA	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr11:55062994C>T	ENST00000526016.1	-	0	643					NR_038174.2																						ATACATTCCTCTTAAAAGCTC	0.428000													20	26					0	0	1	0	0
PLG	5340	broad.mit.edu	37	6	161173248	161173248	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr6:161173248G>A	ENST00000308192.9	+	18	2290	c.2227G>A	c.(2227-2229)Gaa>Aaa	p.E743K		NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	743	Peptidase S1.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	CCAATCCACCGAACTCTGTGC	0.488000													35	42					0	0	1	0	0
C7orf60	154743	broad.mit.edu	37	7	112462317	112462317	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr7:112462317G>A	ENST00000297145.4	-	5	865	c.700C>T	c.(700-702)Cct>Tct	p.P234S		NM_152556.2	NP_689769.2	Q1RMZ1	CG060_HUMAN	chromosome 7 open reading frame 60	234										breast(1)|endometrium(2)|lung(7)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	17						AGCTCTCCAGGAAGAGAATCA	0.423000													23	27					0	0	1	0	0
CHEK2	11200	broad.mit.edu	37	22	29091840	29091840	+	Missense_Mutation	SNP	T	T	C	rs142470496	byFrequency	TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr22:29091840T>C	ENST00000544772.1	-	12	1890	c.454A>G	c.(454-456)Aag>Gag	p.K152E	CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN	checkpoint kinase 2	373	FHA.				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.K373E(9)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCCAAAATCTTGGAGTGCCCA	0.418000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					6	31					0	0	1	0	0
CLEC4M	10332	broad.mit.edu	37	19	7833749	7833749	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr19:7833749G>A	ENST00000327325.5	+	7	1193	c.1075G>A	c.(1075-1077)Gaa>Aaa	p.E359K	CLEC4M_ENST00000596363.1_Missense_Mutation_p.R293K|CLEC4M_ENST00000359059.5_Missense_Mutation_p.E292K|CLEC4M_ENST00000597522.1_Missense_Mutation_p.R229K|CLEC4M_ENST00000357361.2_Missense_Mutation_p.R321K|CLEC4M_ENST00000596707.1_Missense_Mutation_p.E292K|CLEC4M_ENST00000248228.4_Missense_Mutation_p.E337K|CLEC4M_ENST00000394122.2_Missense_Mutation_p.E347K|CLEC4M_ENST00000595496.1_Missense_Mutation_p.E223K|CLEC4M_ENST00000334806.5_Missense_Mutation_p.E308K	NM_001144909.1|NM_014257.4	NP_001138381.1|NP_055072.3	Q9H2X3	CLC4M_HUMAN	C-type lectin domain family 4, member M	359	C-type lectin.				cell-cell recognition|endocytosis|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to plasma membrane	ICAM-3 receptor activity|mannose binding|metal ion binding|peptide antigen binding|virion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)	26						GAACAGTGGAGAACCCAACAA	0.502000													30	73					0	0	1	0	0
SPINK5	11005	broad.mit.edu	37	5	147491423	147491423	+	Silent	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr5:147491423C>T	ENST00000359874.3	+	19	1858	c.1785C>T	c.(1783-1785)atC>atT	p.I595I	SPINK5_ENST00000256084.7_Silent_p.I595I|SPINK5_ENST00000398454.1_Silent_p.I595I	NM_001127698.1	NP_001121170.1	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5	595	Kazal-like 9.				anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation	cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm	serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGGGAAAATCCACGGCAACA	0.527000													38	48					0	0	1	0	0
FPGT	8790	broad.mit.edu	37	1	74670874	74670874	+	Silent	SNP	A	A	G			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr1:74670874A>G	ENST00000370898.2	+	4	1180	c.1143A>G	c.(1141-1143)ttA>ttG	p.L381L	TNNI3K_ENST00000370893.1_Intron|FPGT_ENST00000370894.4_Intron|FPGT_ENST00000524915.1_Intron|FPGT-TNNI3K_ENST00000557284.1_Intron|TNNI3K_ENST00000370891.2_Intron|FPGT_ENST00000534056.1_Intron|FPGT-TNNI3K_ENST00000370895.1_Intron|FPGT-TNNI3K_ENST00000370899.3_Intron	NM_001199328.1|NM_003838.3	NP_001186257.1|NP_003829.2			fucose-1-phosphate guanylyltransferase											breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	39						AGCTCGGCTTACAGTCCATAA	0.353000													63	5					0	0	1	0	0
SLC15A2	6565	broad.mit.edu	37	3	121613331	121613331	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr3:121613331C>T	ENST00000489711.1	+	1	396	c.8C>T	c.(7-9)cCt>cTt	p.P3L	SLC15A2_ENST00000295605.2_Missense_Mutation_p.P3L	NM_021082.3	NP_066568.3	Q16348	S15A2_HUMAN	solute carrier family 15 (oligopeptide transporter), member 2	3					protein transport	integral to plasma membrane	peptide:hydrogen symporter activity|protein binding			NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Cefadroxil(DB01140)	GCCATGAATCCTTTCCAGAAA	0.493000													73	94					0	0	1	0	0
PFKFB2	5208	broad.mit.edu	37	1	207236005	207236005	+	Silent	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr1:207236005C>T	ENST00000367080.3	+	4	376	c.252C>T	c.(250-252)tcC>tcT	p.S84S	PFKFB2_ENST00000367079.2_Silent_p.S84S|PFKFB2_ENST00000411990.2_5'UTR|PFKFB2_ENST00000545806.1_Silent_p.S51S	NM_006212.2	NP_006203.2	O60825	F262_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2	84	6-phosphofructo-2-kinase.				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	20	Prostate(682;0.19)					CAGTCAAGTCCTATAAGTCCT	0.468000													275	42					0	0	1	0	0
VPS18	57617	broad.mit.edu	37	15	41195002	41195002	+	Silent	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr15:41195002C>T	ENST00000220509.5	+	5	2724	c.2385C>T	c.(2383-2385)ttC>ttT	p.F795F	VPS18_ENST00000558474.1_3'UTR	NM_020857.2	NP_065908.1	Q9P253	VPS18_HUMAN	vacuolar protein sorting 18 homolog (S. cerevisiae)	795					endosome organization|lysosome organization|protein transport	HOPS complex|late endosome membrane|lysosomal membrane	metal ion binding|protein binding			autonomic_ganglia(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	28		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		TTCCTGATTTCGTCACCATCG	0.552000													13	27					0	0	1	0	0
ADAM29	11086	broad.mit.edu	37	4	175897790	175897790	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr4:175897790G>A	ENST00000359240.3	+	5	1784	c.1114G>A	c.(1114-1116)Ggt>Agt	p.G372S	ADAM29_ENST00000514159.1_Missense_Mutation_p.G372S|ADAM29_ENST00000404450.4_Missense_Mutation_p.G372S|ADAM29_ENST00000445694.1_Missense_Mutation_p.G372S	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	372	Peptidase M12B.				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		TTGTAGTTATGGTGATTTTTG	0.398000													16	68					0	0	1	0	0
L3MBTL4	91133	broad.mit.edu	37	18	6243355	6243355	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr18:6243355G>A	ENST00000400104.3	-	7	598	c.398C>T	c.(397-399)tCc>tTc	p.S133F	L3MBTL4_ENST00000284898.6_Missense_Mutation_p.S133F|L3MBTL4_ENST00000400105.2_Missense_Mutation_p.S133F|L3MBTL4_ENST00000317931.7_Missense_Mutation_p.S133F			Q8NA19	LMBL4_HUMAN	l(3)mbt-like 4 (Drosophila)	133					chromatin modification	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		Colorectal(10;0.0249)				AATGTCAGGGGAACCAGCATT	0.393000													57	47					0	0	1	0	0
SKIV2L2	23517	broad.mit.edu	37	5	54696175	54696175	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr5:54696175C>T	ENST00000230640.5	+	21	2661	c.2407C>T	c.(2407-2409)Cga>Tga	p.R803*	SKIV2L2_ENST00000545714.1_Nonsense_Mutation_p.R702*	NM_015360.4	NP_056175.3	P42285	SK2L2_HUMAN	superkiller viralicidic activity 2-like 2 (S. cerevisiae)	803					maturation of 5.8S rRNA	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)				TTTTGAGCATCGAATGTATTC	0.373000													16	25					0	0	1	0	0
INTS3	65123	broad.mit.edu	37	1	153744415	153744415	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr1:153744415A>T	ENST00000456435.1	+	26	3264	c.2078A>T	c.(2077-2079)aAc>aTc	p.N693I	INTS3_ENST00000476843.1_3'UTR|INTS3_ENST00000435409.2_Missense_Mutation_p.N899I|INTS3_ENST00000318967.2_Missense_Mutation_p.N899I|INTS3_ENST00000512605.1_Missense_Mutation_p.N693I			Q68E01	INT3_HUMAN	integrator complex subunit 3	900					DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing	integrator complex|SOSS complex	protein binding			breast(1)|cervix(4)|endometrium(10)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			ATCAAGAACAACAGCCTGCCT	0.597000											OREG0013827	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	54	4					0	0	1	0	0
NLRP7	199713	broad.mit.edu	37	19	55451765	55451765	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr19:55451765C>T	ENST00000446217.1	-	6	908	c.506G>A	c.(505-507)gGa>gAa	p.G169E	NLRP7_ENST00000448121.2_Missense_Mutation_p.G141E|NLRP7_ENST00000592784.1_Missense_Mutation_p.G141E|NLRP7_ENST00000328092.5_Missense_Mutation_p.G141E|NLRP7_ENST00000340844.2_Missense_Mutation_p.G141E|NLRP7_ENST00000590030.1_Missense_Mutation_p.G141E|NLRP7_ENST00000588756.1_Missense_Mutation_p.G141E			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	141							ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		GTCAATGTCTCCTTGCCAAAA	0.463000													151	248					0	0	1	0	0
NBEA	26960	broad.mit.edu	37	13	36241532	36241532	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr13:36241532C>T	ENST00000400445.3	+	56	8957	c.8423C>T	c.(8422-8424)aCc>aTc	p.T2808I	NBEA_ENST00000540320.1_Missense_Mutation_p.T2808I|NBEA_ENST00000310336.4_Missense_Mutation_p.T2808I|NBEA_ENST00000537702.1_Missense_Mutation_p.T601I|NBEA_ENST00000379922.3_Missense_Mutation_p.T386I|NBEA_ENST00000379939.2_Missense_Mutation_p.T2805I	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	2808						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		CTTGTCCACACCATCACTGGA	0.502000													36	14					0	0	1	0	0
SPATC1	375686	broad.mit.edu	37	8	145094817	145094817	+	Silent	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr8:145094817C>T	ENST00000377470.3	+	2	321	c.219C>T	c.(217-219)ttC>ttT	p.F73F	SPATC1_ENST00000447830.2_Silent_p.F73F	NM_198572.2	NP_940974.2	Q76KD6	SPERI_HUMAN	spermatogenesis and centriole associated 1	73	Necessary for targeting centrosomes (By similarity).									NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CAGGTGTCTTCCTGCCCCCGT	0.632000													26	18					0	0	1	0	0
KCTD14	65987	broad.mit.edu	37	11	77734242	77734242	+	Silent	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr11:77734242G>A	ENST00000353172.5	-	1	98	c.54C>T	c.(52-54)acC>acT	p.T18T	RP11-7I15.4_ENST00000526730.1_RNA|NDUFC2-KCTD14_ENST00000528251.1_Intron|KCTD14_ENST00000533144.1_Intron|NDUFC2-KCTD14_ENST00000530054.1_Intron	NM_001203260.1|NM_001203262.1|NM_023930.3	NP_001190189.1|NP_001190191.1|NP_076419.2	Q9BQ13	KCD14_HUMAN	potassium channel tetramerization domain containing 14	18						voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	15	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1e-24)			GGGGCAGAGGGGTCTGGCTCG	0.711000													13	86					0	0	1	0	0
NPSR1	387129	broad.mit.edu	37	7	34888123	34888123	+	Silent	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr7:34888123C>T	ENST00000360581.1	+	8	1001	c.873C>T	c.(871-873)ttC>ttT	p.F291F	NPSR1_ENST00000531252.1_Silent_p.F280F|NPSR1_ENST00000359791.1_Silent_p.F291F|NPSR1_ENST00000381542.1_Silent_p.F225F|NPSR1_ENST00000381539.3_Silent_p.F291F	NM_207172.1	NP_997055.1	Q6W5P4	NPSR1_HUMAN	neuropeptide S receptor 1	291						cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	GTCCATACTTCCTGTTTGACA	0.493000													105	164					0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36897983	36897983	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr3:36897983C>T	ENST00000301807.6	-	12	3345	c.1448G>A	c.(1447-1449)cGa>cAa	p.R483Q	TRANK1_ENST00000428977.2_Missense_Mutation_p.R483Q|TRANK1_ENST00000429976.2_Missense_Mutation_p.R1033Q	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	1033					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						AGTGCCACTTCGCCCAATAAG	0.557000													39	52					0	0	1	0	0
PPFIA2	8499	broad.mit.edu	37	12	81675205	81675205	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr12:81675205C>T	ENST00000550584.2	-	26	3338	c.3043G>A	c.(3043-3045)Gct>Act	p.A1015T	PPFIA2_ENST00000541570.2_Missense_Mutation_p.A551T|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000552948.1_Missense_Mutation_p.A994T|PPFIA2_ENST00000548586.1_Missense_Mutation_p.A1009T|PPFIA2_ENST00000407050.4_Missense_Mutation_p.A914T|PPFIA2_ENST00000549325.1_Missense_Mutation_p.A1000T|PPFIA2_ENST00000549396.1_Missense_Mutation_p.A1015T|PPFIA2_ENST00000550359.2_Missense_Mutation_p.A862T|PPFIA2_ENST00000443686.3_Missense_Mutation_p.A910T|PPFIA2_ENST00000333447.7_Missense_Mutation_p.A1000T|PPFIA2_ENST00000541017.1_Missense_Mutation_p.A201T|RP11-121G22.3_ENST00000549161.1_lincRNA	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	914										NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						TCTCCATAAGCCAGGGTCTGT	0.373000													29	59					0	0	1	0	0
POU6F2	11281	broad.mit.edu	37	7	39472825	39472825	+	Silent	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr7:39472825C>T	ENST00000518318.2	+	7	1218	c.1176C>T	c.(1174-1176)atC>atT	p.I392I	POU6F2_ENST00000403058.1_Silent_p.I392I|POU6F2_ENST00000559001.1_Silent_p.I337I			P78424	PO6F2_HUMAN	POU class 6 homeobox 2	392	Gln-rich.				central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						GGAACCAGATCCTGCCCGTGA	0.607000													18	43					0	0	1	0	0
WBP11P1	441818	broad.mit.edu	37	18	30092668	30092668	+	RNA	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr18:30092668G>A	ENST00000567636.1	+	0	1043					NR_003558.1																						TGTGCGCCATGATGATGGTGG	0.438000													14	25					0	0	1	0	0
CDH9	1007	broad.mit.edu	37	5	26915832	26915832	+	Silent	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr5:26915832C>T	ENST00000231021.4	-	3	601	c.429G>A	c.(427-429)tcG>tcA	p.S143S		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	143	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.S143S(1)		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						TGATAAATTCCGATTCCGGTT	0.398000													61	70					0	0	1	0	0
NCKAP5	344148	broad.mit.edu	37	2	133541592	133541592	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr2:133541592G>A	ENST00000409261.1	-	14	3165	c.2792C>T	c.(2791-2793)cCc>cTc	p.P931L	NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.P931L|NCKAP5_ENST00000409213.1_Intron	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	931	Poly-Pro.			PP -> QS (in Ref. 5; BAA22433).			protein binding	p.P931H(1)		NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						GCCTGGAGGGGGCGGAGGGGA	0.622000													13	14					0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61973199	61973199	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr10:61973199G>A	ENST00000280772.1	-	9	1158	c.967C>T	c.(967-969)Cga>Tga	p.R323*	ANK3_ENST00000373827.2_Nonsense_Mutation_p.R317*|ANK3_ENST00000503366.1_Nonsense_Mutation_p.R306*	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	323					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						GGGGCAGCTCGATCAAGCAAC	0.418000													20	27					0	0	1	0	0
SALL1	6299	broad.mit.edu	37	16	51175496	51175496	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr16:51175496C>T	ENST00000440970.1	-	2	777	c.346G>A	c.(346-348)Gaa>Aaa	p.E116K	SALL1_ENST00000541611.1_Intron|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000251020.4_Missense_Mutation_p.E213K	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	213					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			CACCTCGCTTCCTGGGAGAAC	0.612000													49	17					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90124847	90124847	+	Silent	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr5:90124847G>A	ENST00000405460.2	+	77	16551	c.16455G>A	c.(16453-16455)caG>caA	p.Q5485Q	GPR98_ENST00000425867.2_Silent_p.Q1146Q	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	5485					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GATTCGCACAGATTAAAATCT	0.418000													41	64					0	0	1	0	0
NMUR2	56923	broad.mit.edu	37	5	151784073	151784073	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr5:151784073G>A	ENST00000255262.3	-	1	767	c.602C>T	c.(601-603)tCg>tTg	p.S201L	NMUR2_ENST00000518933.1_Intron	NM_020167.4	NP_064552.3	Q9GZQ4	NMUR2_HUMAN	neuromedin U receptor 2	201					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction	integral to membrane|plasma membrane	GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	44		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)			ACAGGTGGCCGAACCTGGGAC	0.552000													63	89					0	0	1	0	0
PRLH	51052	broad.mit.edu	37	2	238475760	238475760	+	Missense_Mutation	SNP	G	G	A	rs144703716		TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr2:238475760G>A	ENST00000165524.1	+	2	206	c.206G>A	c.(205-207)cGa>cAa	p.R69Q		NM_015893.1	NP_056977.1	P81277	PRRP_HUMAN	prolactin releasing hormone	69						extracellular region				endometrium(1)|large_intestine(1)	2		Lung NSC(271;0.142)|all_lung(227;0.175)		Epithelial(121;8.28e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.03e-10)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.19e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000329)|Lung(119;0.0106)|LUSC - Lung squamous cell carcinoma(224;0.0249)		CCTGGCCTGCGACCCCGGCTG	0.662000													28	28					0	0	1	0	0
ZAN	7455	broad.mit.edu	37	7	100350186	100350186	+	RNA	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr7:100350186G>A	ENST00000542585.1	+	0	2606				ZAN_ENST00000546292.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000421100.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CATCCCCATGGAAAAACCCAC	0.517000													51	69					0	0	1	0	0
FGGY	55277	broad.mit.edu	37	1	60019826	60019826	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr1:60019826G>A	ENST00000371218.4	+	8	1014	c.830G>A	c.(829-831)gGc>gAc	p.G277D	FGGY_ENST00000371212.1_Missense_Mutation_p.G189D|FGGY_ENST00000371210.1_5'UTR|FGGY_ENST00000303721.7_Missense_Mutation_p.G277D|FGGY_ENST00000474476.1_3'UTR	NM_001113411.1	NP_001106882.1	Q96C11	FGGY_HUMAN	FGGY carbohydrate kinase domain containing	277					carbohydrate metabolic process|cell death|neuron homeostasis		kinase activity|phosphotransferase activity, alcohol group as acceptor			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(7;7.36e-05)					AGAGGGCACGGCCTCATCTGT	0.493000													40	6					0	0	1	0	0
OR5I1	10798	broad.mit.edu	37	11	55703593	55703593	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr11:55703593G>A	ENST00000301532.3	-	1	283	c.284C>T	c.(283-285)tCc>tTc	p.S95F		NM_006637.1	NP_006628.1	Q13606	OR5I1_HUMAN	olfactory receptor, family 5, subfamily I, member 1	95					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						CCCATAATAGGAAATAGATTT	0.408000													14	27					0	0	1	0	0
FLVCR2	55640	broad.mit.edu	37	14	76045416	76045416	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr14:76045416C>T	ENST00000238667.4	+	1	457	c.101C>T	c.(100-102)tCg>tTg	p.S34L	AC007182.6_ENST00000455232.1_RNA	NM_017791.2	NP_060261.2	Q9UPI3	FLVC2_HUMAN	feline leukemia virus subgroup C cellular receptor family, member 2	34	8 X 6 AA tandem repeats of P-S-[VS]-S- [VIAG]-[HNP].				transmembrane transport	integral to membrane|plasma membrane	heme binding|heme transporter activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	15				BRCA - Breast invasive adenocarcinoma(234;0.029)		CCCAGCGTCTCGGTCCATCCC	0.642000													68	24					0	0	1	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33577051	33577051	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr5:33577051G>A	ENST00000504830.1	-	19	3415	c.3080C>T	c.(3079-3081)tCc>tTc	p.S1027F	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.S942F	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1027	Spacer 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TCTGGGCCTGGATGTAGGTGG	0.527000										HNSCC(64;0.19)			40	70					0	0	1	0	0
KCNC2	3747	broad.mit.edu	37	12	75444834	75444834	+	Silent	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr12:75444834G>A	ENST00000549446.1	-	3	1631	c.951C>T	c.(949-951)atC>atT	p.I317I	KCNC2_ENST00000298972.1_Silent_p.I317I|KCNC2_ENST00000540018.1_Silent_p.I317I|KCNC2_ENST00000350228.2_Silent_p.I317I|KCNC2_ENST00000393288.2_Silent_p.I317I|KCNC2_ENST00000341669.3_Silent_p.I317I|KCNC2_ENST00000548513.1_Silent_p.I317I|KCNC2_ENST00000550433.1_Silent_p.I317I	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	Q96PR1	KCNC2_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 2	317					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54						CAAAGTCAATGATATTCAAGA	0.403000													35	67					0	0	1	0	0
LIPI	149998	broad.mit.edu	37	21	15537558	15537558	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr21:15537558G>A	ENST00000344577.2	-	6	975	c.950C>T	c.(949-951)tCa>tTa	p.S317L	LIPI_ENST00000536861.1_Missense_Mutation_p.S296L	NM_198996.2	NP_945347.1	Q6XZB0	LIPI_HUMAN	lipase, member I	296					lipid catabolic process	extracellular region|extracellular space|membrane|plasma membrane	heparin binding|phospholipase activity			endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)		CCGAGGACATGATTTTTCCTT	0.313000													28	31					0	0	1	0	0
OR14K1	343170	broad.mit.edu	37	1	247902152	247902152	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr1:247902152C>T	ENST00000283225.2	+	1	236	c.236C>T	c.(235-237)tCc>tTc	p.S79F	RP11-634B7.4_ENST00000449298.1_RNA					olfactory receptor, family 14, subfamily K, member 1											NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|lung(18)|ovary(1)|urinary_tract(1)	27						GTCCCCAAATCCATCCTCAAC	0.507000													70	6					0	0	1	0	0
TRO	7216	broad.mit.edu	37	X	54957644	54957644	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chrX:54957644C>T	ENST00000319167.8	+	13	2106	c.1994C>T	c.(1993-1995)tCc>tTc	p.S665F	TRO_ENST00000399736.1_Missense_Mutation_p.S268F|TRO_ENST00000375041.2_3'UTR|TRO_ENST00000420798.2_3'UTR|TRO_ENST00000173898.7_3'UTR|TRO_ENST00000375022.4_Missense_Mutation_p.S665F	NM_016157.2	NP_057241.2	Q12816	TROP_HUMAN	trophinin	0					embryo implantation|homophilic cell adhesion	integral to plasma membrane				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						CAGATTTATTCCCCATGTTTA	0.408000													26	44					0	0	1	0	0
PSORS1C1	170679	broad.mit.edu	37	6	31107563	31107563	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr6:31107563C>T	ENST00000259881.9	+	6	602	c.313C>T	c.(313-315)Ccg>Tcg	p.P105S	PSORS1C1_ENST00000547221.1_Missense_Mutation_p.P57S|PSORS1C1_ENST00000481450.2_Missense_Mutation_p.P42S	NM_014068.2	NP_054787.2	Q9UIG5	PS1C1_HUMAN	psoriasis susceptibility 1 candidate 1	105										kidney(1)|ovary(2)|prostate(1)|skin(1)	5						GCCAATGGCTCCGGAAGAAGC	0.572000													77	15					0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240370649	240370649	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr1:240370649C>T	ENST00000319653.9	+	5	2767	c.2537C>T	c.(2536-2538)tCc>tTc	p.S846F		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	846	FH1.|Pro-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CACTCTGTTTCCTCTGCCTTT	0.567000													80	13					0	0	1	0	0
RASGRF1	5923	broad.mit.edu	37	15	79339322	79339322	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr15:79339322C>T	ENST00000419573.3	-	5	918	c.644G>A	c.(643-645)gGc>gAc	p.G215D	RASGRF1_ENST00000560334.1_5'UTR|RASGRF1_ENST00000558480.2_Missense_Mutation_p.G215D	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	215	IQ.				activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GCACAGCCAGCCCCGCAGGAA	0.617000													16	22					0	0	1	0	0
DHX8	1659	broad.mit.edu	37	17	41598905	41598905	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr17:41598905C>T	ENST00000262415.3	+	21	3307	c.3235C>T	c.(3235-3237)Cgc>Tgc	p.R1079C	DHX8_ENST00000540306.1_Missense_Mutation_p.R1079C	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	1079						catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		CCAGGACATTCGCAAGCAGAT	0.483000													38	84					0	0	1	0	0
LPA	4018	broad.mit.edu	37	6	161010654	161010654	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr6:161010654C>T	ENST00000447678.1	-	25	3998	c.3878G>A	c.(3877-3879)aGg>aAg	p.R1293K	LPA_ENST00000316300.5_Missense_Mutation_p.R1293K	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	3801	Kringle 12.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	CTGACATGTCCTTCCTGTAAC	0.483000													38	57					0	0	1	0	0
LHFPL1	340596	broad.mit.edu	37	X	111914451	111914451	+	Silent	SNP	T	T	A	rs34008362		TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chrX:111914451T>A	ENST00000371968.3	-	2	407	c.168A>T	c.(166-168)ggA>ggT	p.G56G	LHFPL1_ENST00000478229.1_Intron|LHFPL1_ENST00000536453.1_Silent_p.G56G	NM_178175.3	NP_835469.1	Q86WI0	LHPL1_HUMAN	lipoma HMGIC fusion partner-like 1	56						integral to membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)	13						TGTGTCCCTCTCCCCGCACAG	0.552000													80	111					0	0	1	0	0
PDILT	204474	broad.mit.edu	37	16	20376823	20376823	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr16:20376823G>A	ENST00000302451.4	-	9	1404	c.1156C>T	c.(1156-1158)Cag>Tag	p.Q386*		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	386					cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						ACCAGTCCCTGGTCCCAGTAT	0.448000													55	82					0	0	1	0	0
KIAA0513	9764	broad.mit.edu	37	16	85100903	85100903	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr16:85100903G>A	ENST00000566428.1	+	2	857	c.226G>A	c.(226-228)Gag>Aag	p.E76K	KIAA0513_ENST00000538274.1_Missense_Mutation_p.E76K|KIAA0513_ENST00000567328.1_Missense_Mutation_p.E76K|KIAA0513_ENST00000258180.3_Missense_Mutation_p.E76K			O60268	K0513_HUMAN	KIAA0513	76						cytoplasm				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(9)|pancreas(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.234)		CTCCTCCAACGAGTCCTTCTC	0.587000													25	8					0	0	1	0	0
TRHDE	29953	broad.mit.edu	37	12	72893278	72893278	+	Splice_Site	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr12:72893278G>A	ENST00000261180.4	+	6	1546	c.1449_splice	c.e6-1	p.E484_splice		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	484					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						TGTATTGCAGGAAAAGCAGAG	0.443000													20	47					0	0	1	0	0
TNKS1BP1	85456	broad.mit.edu	37	11	57070045	57070045	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr11:57070045G>A	ENST00000532437.1	-	6	4882	c.4571C>T	c.(4570-4572)aCc>aTc	p.T1524I	TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.T1524I			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	1524	Acidic.|Tankyrase-binding.				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				AGAGCCCCAGGTGCCATCCAC	0.662000													18	12					0	0	1	0	0
MRPS5	64969	broad.mit.edu	37	2	95772168	95772168	+	Splice_Site	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr2:95772168C>T	ENST00000272418.2	-	6	880	c.672_splice	c.e6+1	p.E224_splice		NM_031902.3	NP_114108.1	P82675	RT05_HUMAN	mitochondrial ribosomal protein S5	224	S5 DRBM.				translation	mitochondrion|ribosome	protein binding|RNA binding|structural constituent of ribosome			central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						GCATGCCTACCTCAAGTATCC	0.443000													23	61					0	0	1	0	0
USH1G	124590	broad.mit.edu	37	17	72915624	72915624	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr17:72915624C>T	ENST00000319642.1	-	2	1489	c.1307G>A	c.(1306-1308)cGa>cAa	p.R436Q		NM_173477.2	NP_775748.2	Q495M9	USH1G_HUMAN	Usher syndrome 1G (autosomal recessive)	436	SAM.				equilibrioception|photoreceptor cell maintenance|sensory perception of sound	actin cytoskeleton			HN1/USH1G(2)	endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(3)	14	all_lung(278;0.172)|Lung NSC(278;0.207)					GATCTTCTTTCGGGGCCCCAG	0.682000													20	23					0	0	1	0	0
CACNA1C	775	broad.mit.edu	37	12	2764351	2764351	+	Silent	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr12:2764351C>T	ENST00000399655.1	+	34	4444	c.4179C>T	c.(4177-4179)atC>atT	p.I1393I	CACNA1C_ENST00000347598.4_Silent_p.I1441I|CACNA1C_ENST00000399641.1_Silent_p.I1393I|CACNA1C_ENST00000399649.1_Silent_p.I1380I|CACNA1C_ENST00000399621.1_Silent_p.I1393I|CACNA1C_ENST00000402845.3_Silent_p.I1393I|CACNA1C_ENST00000399601.1_Silent_p.I1393I|CACNA1C_ENST00000335762.5_Silent_p.I1418I|CACNA1C_ENST00000399634.1_Silent_p.I1393I|CACNA1C_ENST00000399597.1_Silent_p.I1393I|CACNA1C_ENST00000399629.1_Silent_p.I1410I|CACNA1C_ENST00000327702.7_Silent_p.I1393I|CACNA1C_ENST00000399595.1_Silent_p.I1382I|CACNA1C_ENST00000399617.1_Silent_p.I1393I|CACNA1C_ENST00000406454.3_Silent_p.I1393I|CACNA1C_ENST00000399644.1_Silent_p.I1393I|CACNA1C_ENST00000399603.1_Silent_p.I1393I|CACNA1C_ENST00000399591.1_Silent_p.I1382I|CACNA1C_ENST00000399606.1_Silent_p.I1413I|CACNA1C_ENST00000344100.3_Silent_p.I1415I|CACNA1C_ENST00000399637.1_Silent_p.I1393I|CACNA1C_ENST00000399638.1_Silent_p.I1421I	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1441					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	CCACAGAGATCAACCGGAACA	0.502000													13	14					0	0	1	0	0
SORL1	6653	broad.mit.edu	37	11	121448080	121448080	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr11:121448080G>A	ENST00000260197.7	+	25	3680	c.3551G>A	c.(3550-3552)aGg>aAg	p.R1184K	SORL1_ENST00000532694.1_Missense_Mutation_p.R30K|SORL1_ENST00000525532.1_Missense_Mutation_p.R128K|SORL1_ENST00000534286.1_Missense_Mutation_p.R94K	NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	1184	LDL-receptor class A 3.				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		AACGACTGCAGGGACTGGTCT	0.527000													27	17					0	0	1	0	0
NPTX2	4885	broad.mit.edu	37	7	98257818	98257818	+	Silent	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr7:98257818C>T	ENST00000265634.3	+	5	1338	c.1173C>T	c.(1171-1173)atC>atT	p.I391I		NM_002523.2	NP_002514.1	P47972	NPTX2_HUMAN	neuronal pentraxin II	391	Pentaxin.				synaptic transmission	extracellular region	metal ion binding|sugar binding			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		STAD - Stomach adenocarcinoma(171;0.215)			TTGTCAACATCGCCAACTGCT	0.577000													10	10					0	0	1	0	0
AZI1	22994	broad.mit.edu	37	17	79171640	79171640	+	Nonsense_Mutation	SNP	T	T	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr17:79171640T>A	ENST00000269392.4	-	13	1775	c.1528A>T	c.(1528-1530)Aaa>Taa	p.K510*	AZI1_ENST00000374782.3_Nonsense_Mutation_p.K507*|AZI1_ENST00000450824.2_Nonsense_Mutation_p.K507*|RP11-455O6.2_ENST00000571085.1_RNA|AZI1_ENST00000575907.1_Nonsense_Mutation_p.K510*	NM_014984.2	NP_055799.2	Q9UPN4	AZI1_HUMAN	5-azacytidine induced 1	510					cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centrosome|cytosol|intracellular membrane-bounded organelle				breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(1)|lung(12)|ovary(2)|prostate(3)|urinary_tract(5)	36	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			GCACTGAGTTTTCCAAATTTC	0.567000													18	19					0	0	1	0	0
OR8K1	390157	broad.mit.edu	37	11	56113787	56113787	+	Silent	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr11:56113787C>T	ENST00000279783.2	+	1	367	c.273C>T	c.(271-273)ttC>ttT	p.F91F		NM_001002907.1	NP_001002907.1	Q8NGG5	OR8K1_HUMAN	olfactory receptor, family 8, subfamily K, member 1	91					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(8)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Esophageal squamous(21;0.00448)					TAGTAAACTTCATAGTGCACA	0.393000										HNSCC(65;0.19)			65	102					0	0	1	0	0
NYAP2	57624	broad.mit.edu	37	2	226447283	226447283	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr2:226447283C>T	ENST00000272907.6	+	4	1563	c.1150C>T	c.(1150-1152)Ccg>Tcg	p.P384S	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	K1486_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	384	Pro-rich.																CTCCACGCTGCCGTCCCACGT	0.682000													5	7					0	0	1	0	0
IGHV3OR16-9	28307	broad.mit.edu	37	16	32077472	32077472	+	RNA	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr16:32077472C>T	ENST00000354689.6	+	0	87				RP11-1166P10.6_ENST00000566806.1_RNA																							GATTCACCTTCAGTAACCACT	0.567000													94	342					0	0	1	0	0
NOTCH1	4851	broad.mit.edu	37	9	139391690	139391690	+	Silent	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr9:139391690G>A	ENST00000277541.6	-	34	6576	c.6501C>T	c.(6499-6501)gcC>gcT	p.A2167A		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	2167					aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	p.S2163_T2283del(1)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		TGCTTCCACAGGCCAGGCCTT	0.682000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			21	55					0	0	1	0	0
TPSG1	25823	broad.mit.edu	37	16	1271968	1271968	+	Silent	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr16:1271968C>T	ENST00000234798.4	-	6	790	c.786G>A	c.(784-786)gtG>gtA	p.V262V		NM_012467.3	NP_036599.3	Q9NRR2	TRYG1_HUMAN	tryptase gamma 1	262	Peptidase S1.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			liver(1)|lung(2)|skin(1)	4		Hepatocellular(780;0.00369)				GGATCCAGTTCACGTAGGCAG	0.667000													10	14					0	0	1	0	0
UBQLN3	50613	broad.mit.edu	37	11	5529653	5529653	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr11:5529653C>T	ENST00000311659.4	-	2	1283	c.1136G>A	c.(1135-1137)aGa>aAa	p.R379K	HBG2_ENST00000380259.2_Intron	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	379										NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGGGGGAACTCTGTTTACTGA	0.572000													49	76					0	0	1	0	0
MYO3B	140469	broad.mit.edu	37	2	171356256	171356256	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr2:171356256G>A	ENST00000334231.6	+	27	3254	c.3254G>A	c.(3253-3255)gGa>gAa	p.G1085E	MYO3B_ENST00000408978.4_Missense_Mutation_p.G1076E|MYO3B_ENST00000409044.3_Missense_Mutation_p.G1076E|MYO3B_ENST00000602629.1_Intron			Q8WXR4	MYO3B_HUMAN	myosin IIIB	1076	IQ 1.				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						GGGTGGCTTGGAGCCAGGAGA	0.458000													34	27					0	0	1	0	0
EDEM3	80267	broad.mit.edu	37	1	184692968	184692968	+	Missense_Mutation	SNP	T	T	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr1:184692968T>A	ENST00000318130.8	-	8	1036	c.770A>T	c.(769-771)gAt>gTt	p.D257V	EDEM3_ENST00000367512.3_Missense_Mutation_p.D214V	NM_025191.3	NP_079467.3	Q9BZQ6	EDEM3_HUMAN	ER degradation enhancer, mannosidase alpha-like 3	257					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CCAGAGAAAATCAAGAGCTTT	0.323000													6	39					0	0	1	0	0
SPAG17	200162	broad.mit.edu	37	1	118530493	118530493	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr1:118530493G>A	ENST00000336338.5	-	40	5698	c.5633C>T	c.(5632-5634)tCc>tTc	p.S1878F		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1878						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		GCGTTTTGAGGATGCTGTGTG	0.403000													23	3					0	0	1	0	0
SPTB	6710	broad.mit.edu	37	14	65246467	65246467	+	Silent	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr14:65246467G>A	ENST00000389722.3	-	20	4502	c.4449C>T	c.(4447-4449)atC>atT	p.I1483I	SPTB_ENST00000389720.3_Silent_p.I1483I|SPTB_ENST00000389721.5_Silent_p.I1483I|SPTB_ENST00000556626.1_Silent_p.I1483I|SPTB_ENST00000542895.1_Silent_p.I1483I	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	1483					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton	p.I1483I(1)		breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		AGTCCCGGCTGATCTGCAGCT	0.592000													52	17					0	0	1	0	0
OR8A1	390275	broad.mit.edu	37	11	124440328	124440328	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr11:124440328C>T	ENST00000284287.3	+	1	436	c.364C>T	c.(364-366)Ctt>Ttt	p.L122F		NM_001005194.1	NP_001005194.1	Q8NGG7	OR8A1_HUMAN	olfactory receptor, family 8, subfamily A, member 1	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			haematopoietic_and_lymphoid_tissue(1)|lung(16)|ovary(2)|prostate(1)|skin(2)	22		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214)		CTACTTCTTCCTTGTTTTTGT	0.463000													27	13					0	0	1	0	0
ACRC	93953	broad.mit.edu	37	X	70823758	70823758	+	Missense_Mutation	SNP	G	G	A	rs140761910	byFrequency	TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chrX:70823758G>A	ENST00000373695.1	+	7	1168	c.631G>A	c.(631-633)Gat>Aat	p.D211N	ACRC_ENST00000373696.3_Missense_Mutation_p.D211N			Q96QF7	ACRC_HUMAN	acidic repeat containing	211	Asp/Ser-rich.					nucleus				autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54	Renal(35;0.156)					CAACAGTGATGATTCGGATGT	0.502000													172	248					0	0	1	0	0
UBR2	23304	broad.mit.edu	37	6	42641897	42641897	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr6:42641897C>T	ENST00000372901.1	+	38	4475	c.4217C>T	c.(4216-4218)cCa>cTa	p.P1406L	UBR2_ENST00000372899.1_Missense_Mutation_p.P1406L|UBR2_ENST00000372883.3_3'UTR			Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	1406					cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			GAGGAACTTCCATGCATATTA	0.348000													113	14					0	0	1	0	0
RASSF6	166824	broad.mit.edu	37	4	74477518	74477518	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr4:74477518C>T	ENST00000342081.3	-	2	221	c.91G>A	c.(91-93)Gaa>Aaa	p.E31K	RASSF6_ENST00000335049.5_Intron|RASSF6_ENST00000395777.2_5'UTR|RASSF6_ENST00000307439.5_5'UTR|RASSF6_ENST00000512591.1_5'UTR	NM_201431.2	NP_958834.1	Q6ZTQ3	RASF6_HUMAN	Ras association (RalGDS/AF-6) domain family member 6	31					apoptosis|signal transduction		protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|pancreas(2)|skin(2)	17	Breast(15;0.00102)		all cancers(17;0.00104)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)			GTCATCTTTTCCTCCTTTTTG	0.333000													9	55					0	0	1	0	0
APBB1IP	54518	broad.mit.edu	37	10	26825136	26825136	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr10:26825136G>A	ENST00000376236.4	+	10	1489	c.1034G>A	c.(1033-1035)gGa>gAa	p.G345E		NM_019043.3	NP_061916.3	Q7Z5R6	AB1IP_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein	345	PH.				blood coagulation|signal transduction	cytoskeleton|cytosol|focal adhesion|lamellipodium				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						GTACCCAAAGGAAAGACTAAG	0.328000													46	73					0	0	1	0	0
KLHL36	79786	broad.mit.edu	37	16	84691052	84691052	+	Silent	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr16:84691052C>T	ENST00000564996.1	+	3	780	c.639C>T	c.(637-639)gcC>gcT	p.A213A	KLHL36_ENST00000258157.5_Silent_p.A213A	NM_024731.2	NP_079007.2	Q8N4N3	KLH36_HUMAN	kelch-like family member 36	213	BACK.									endometrium(3)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						TCCTGCAGGCCGCCCTGCAGT	0.652000													11	4					0	0	1	0	0
ANO3	63982	broad.mit.edu	37	11	26463542	26463542	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr11:26463542C>T	ENST00000256737.3	+	2	976	c.124C>T	c.(124-126)Cag>Tag	p.Q42*	ANO3_ENST00000531646.1_Nonsense_Mutation_p.Q42*|ANO3_ENST00000525139.1_Nonsense_Mutation_p.Q26*|ANO3_ENST00000537978.1_Nonsense_Mutation_p.Q26*	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	42						chloride channel complex	chloride channel activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						TTGCCTCGCCCAGAGCTACGC	0.453000													70	81					0	0	1	0	0
ADAM32	203102	broad.mit.edu	37	8	39079153	39079153	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr8:39079153G>A	ENST00000379907.4	+	13	1385	c.1258G>A	c.(1258-1260)Gat>Aat	p.D420N	ADAM32_ENST00000519315.1_Missense_Mutation_p.D314N|ADAM32_ENST00000437682.2_Missense_Mutation_p.D321N	NM_145004.5	NP_659441.3	Q8TC27	ADA32_HUMAN	ADAM metallopeptidase domain 32	420	Disintegrin.				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)			AAGCTGTTGTGATTTTCGAAC	0.323000													10	8					0	0	1	0	0
ZNF384	171017	broad.mit.edu	37	12	6777167	6777167	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr12:6777167G>A	ENST00000396795.1	-	9	1761	c.1264C>T	c.(1264-1266)Cag>Tag	p.Q422*	ZNF384_ENST00000396799.2_Nonsense_Mutation_p.Q422*|ZNF384_ENST00000319770.3_Nonsense_Mutation_p.Q406*|ZNF384_ENST00000396801.3_Nonsense_Mutation_p.Q483*|ZNF384_ENST00000361959.3_Nonsense_Mutation_p.Q483*|ZNF384_ENST00000355772.4_Nonsense_Mutation_p.Q367*			Q8TF68	ZN384_HUMAN	zinc finger protein 384	483					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		EWSR1/ZNF384(4)	breast(3)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	18						gcctgagcctgggcttgagct	0.642000			T	"""EWSR1, TAF15 """	ALL								19	22					0	0	1	0	0
FAM135B	51059	broad.mit.edu	37	8	139164685	139164685	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr8:139164685C>T	ENST00000395297.1	-	13	2203	c.2033G>A	c.(2032-2034)aGa>aAa	p.R678K		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	678										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)			GGATGAAGATCTCTTGATGAC	0.532000										HNSCC(54;0.14)			9	15					0	0	1	0	0
SLC4A8	9498	broad.mit.edu	37	12	51853752	51853752	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr12:51853752G>A	ENST00000453097.2	+	8	1090	c.873G>A	c.(871-873)atG>atA	p.M291I	SLC4A8_ENST00000394856.1_Missense_Mutation_p.M238I|SLC4A8_ENST00000514353.3_Missense_Mutation_p.M238I|SLC4A8_ENST00000535225.2_Missense_Mutation_p.M238I|SLC4A8_ENST00000358657.3_Missense_Mutation_p.M318I	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1	Q2Y0W8	S4A8_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 8	291					bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		TTCATTTCATGAAAAAAATTC	0.413000													56	96					0	0	1	0	0
DVL1	1855	broad.mit.edu	37	1	1275124	1275124	+	Silent	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr1:1275124G>A	ENST00000378888.5	-	9	1262	c.978C>T	c.(976-978)tcC>tcT	p.S326S	DVL1_ENST00000378891.5_Silent_p.S326S			O14640	DVL1_HUMAN	dishevelled segment polarity protein 1	326					canonical Wnt receptor signaling pathway|dendrite morphogenesis|intracellular signal transduction|negative regulation of protein binding|negative regulation of protein kinase activity|neural tube development|neuromuscular junction development|neurotransmitter secretion|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein localization to nucleus|receptor clustering|transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, planar cell polarity pathway	cytoplasmic membrane-bounded vesicle|cytosol|plasma membrane|synapse|synaptosome	frizzled binding|identical protein binding|protein kinase binding|signal transducer activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		ACCCCGTCTGGGAAACGATCT	0.647000													34	2					0	0	1	0	0
TBC1D29	26083	broad.mit.edu	37	17	28890411	28890411	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr17:28890411C>T	ENST00000580161.1	+	6	2918	c.421C>T	c.(421-423)Cgg>Tgg	p.R141W	TBC1D29_ENST00000579181.1_Missense_Mutation_p.R141W|TBC1D29_ENST00000584297.1_3'UTR			Q9UFV1	TBC29_HUMAN	TBC1 domain family, member 29	141						intracellular	Rab GTPase activator activity			breast(1)|kidney(1)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9		Myeloproliferative disorder(56;0.0255)				TCTACCAtctcggagagggag	0.488000													14	23					0	0	1	0	0
STX1B	112755	broad.mit.edu	37	16	31012260	31012260	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr16:31012260G>A	ENST00000215095.5	-	4	500	c.269C>T	c.(268-270)tCc>tTc	p.S90F	STX1B_ENST00000565419.1_Missense_Mutation_p.S90F	NM_052874.3	NP_443106.1	P61266	STX1B_HUMAN	syntaxin 1B	90					intracellular protein transport|neurotransmitter transport|synaptic transmission	integral to plasma membrane	extracellular-glutamate-gated ion channel activity|SNAP receptor activity			breast(2)|endometrium(1)|large_intestine(5)|lung(5)	13						TTTCAATTTGGACCGAACCTT	0.562000													33	46					0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34102044	34102044	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr1:34102044C>T	ENST00000373381.4	-	30	5061	c.4885G>A	c.(4885-4887)Gaa>Aaa	p.E1629K	CSMD2_ENST00000373380.1_Missense_Mutation_p.E502K|CSMD2_ENST00000373388.2_5'UTR	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1589	CUB 10.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CCCTCAACTTCGTAGCCCCCG	0.622000													28	7					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179615321	179615321	+	Nonsense_Mutation	SNP	G	G	A	rs147087155	by1000genomes	TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr2:179615321G>A	ENST00000360870.5	-	46	12028	c.11806C>T	c.(11806-11808)Cga>Tga	p.R3936*	TTN_ENST00000591111.1_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000585451.1_RNA	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	9753							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)			GGGCGTTTTCGAAAAGAATTT	0.353000													14	30					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	3224583	3224583	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr8:3224583G>A	ENST00000602557.1	-	21	3644	c.3089C>T	c.(3088-3090)tCg>tTg	p.S1030L	CSMD1_ENST00000400186.3_Missense_Mutation_p.S1030L|CSMD1_ENST00000539096.1_Missense_Mutation_p.S1029L|CSMD1_ENST00000602723.1_Missense_Mutation_p.S1030L|CSMD1_ENST00000520002.1_Missense_Mutation_p.S1030L|CSMD1_ENST00000542608.1_Missense_Mutation_p.S1029L|CSMD1_ENST00000537824.1_Missense_Mutation_p.S1029L			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1030	CUB 6.					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)		GCCCTCGTACGAAATTGAGAA	0.468000													8	5					0	0	1	0	0
CYP2C8	1558	broad.mit.edu	37	10	96827404	96827404	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr10:96827404C>T	ENST00000371270.3	-	2	307	c.213G>A	c.(211-213)atG>atA	p.M71I	CYP2C8_ENST00000539050.1_5'UTR|CYP2C8_ENST00000535898.1_Intron	NM_000770.3|NM_001198853.1|NM_001198855.1	NP_000761.3|NP_001185782.1|NP_001185784.1	P10632	CP2C8_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 8	71					exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21		Colorectal(252;0.0397)		all cancers(201;6.21e-05)	Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198)	CTATGGGATTCATGCCAAAAT	0.413000													24	36					0	0	1	0	0
ALG12	79087	broad.mit.edu	37	22	50307148	50307148	+	Silent	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr22:50307148G>A	ENST00000330817.5	-	3	453	c.180C>T	c.(178-180)ttC>ttT	p.F60F		NM_024105.3	NP_077010.1	Q9BV10	ALG12_HUMAN	ALG12, alpha-1,6-mannosyltransferase	60					dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	integral to membrane|intrinsic to endoplasmic reticulum membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(3)	12		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		BRCA - Breast invasive adenocarcinoma(115;0.199)|LUAD - Lung adenocarcinoma(64;0.247)		CGACTCCGGGGAACTCAAGAT	0.592000													18	40					0	0	1	0	0
HAO2	51179	broad.mit.edu	37	1	119925542	119925542	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr1:119925542C>T	ENST00000361035.4	+	4	458	c.175C>T	c.(175-177)Cgc>Tgc	p.R59C	HAO2_ENST00000325945.3_Missense_Mutation_p.R46C	NM_001005783.1	NP_001005783.1	Q9NYQ3	HAOX2_HUMAN	hydroxyacid oxidase 2 (long chain)	46	FMN hydroxy acid dehydrogenase.				fatty acid alpha-oxidation	peroxisome	(S)-2-hydroxy-acid oxidase activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.0155)|LUSC - Lung squamous cell carcinoma(189;0.0856)		GCACAGAATTCGCCTCCGTCC	0.552000													24	3					0	0	1	0	0
LOC286059	286059	broad.mit.edu	37	8	22938498	22938498	+	RNA	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr8:22938498G>A	ENST00000501897.1	+	0	193					NR_038873.1																						TGTGTTACAGGAACAGGCAAA	0.537000													15	5					0	0	1	0	0
SLC13A3	64849	broad.mit.edu	37	20	45194949	45194949	+	Silent	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr20:45194949G>A	ENST00000279027.4	-	11	1431	c.1413C>T	c.(1411-1413)atC>atT	p.I471I	SLC13A3_ENST00000413164.2_Silent_p.I421I|SLC13A3_ENST00000472148.1_Silent_p.I389I|SLC13A3_ENST00000290317.5_Silent_p.I424I|SLC13A3_ENST00000396360.1_Silent_p.I389I|SLC13A3_ENST00000435032.1_Silent_p.I56I|SLC13A3_ENST00000495082.1_Silent_p.I424I	NM_001193342.1|NM_022829.5	NP_001180271.1|NP_073740.2	Q8WWT9	S13A3_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3	471						integral to membrane|plasma membrane	high affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	TGACCACAGTGATGAGCAGCA	0.607000													71	89					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9089612	9089612	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr19:9089612C>T	ENST00000397910.4	-	1	2406	c.2203G>A	c.(2203-2205)Gat>Aat	p.D735N		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	735	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						GACACTTTATCCTCAAGAACT	0.483000													50	56					0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38833586	38833586	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr3:38833586G>A	ENST00000449082.2	-	2	343	c.344C>T	c.(343-345)cCt>cTt	p.P115L		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	115					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	CAGGTTGAAAGGACTGAATAG	0.463000													89	120					0	0	1	0	0
SLC6A14	11254	broad.mit.edu	37	X	115569056	115569056	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chrX:115569056G>A	ENST00000371900.4	+	2	235	c.147G>A	c.(145-147)atG>atA	p.M49I		NM_007231.3	NP_009162.1	Q9UN76	S6A14_HUMAN	solute carrier family 6 (amino acid transporter), member 14	49					cellular amino acid metabolic process|response to toxin	integral to membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	23					L-Proline(DB00172)	TTCTATCTATGATTGGATACG	0.448000													51	71					0	0	1	0	0
CSAG4	100130935	broad.mit.edu	37	X	151896630	151896630	+	RNA	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chrX:151896630G>A	ENST00000361201.4	-	0	310					NR_073432.1															endometrium(2)|kidney(2)|lung(1)	5						ATCTTCACCAGACCAGTGTCT	0.557000													73	102					0	0	1	0	0
GPR158	57512	broad.mit.edu	37	10	25887462	25887462	+	Silent	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr10:25887462G>A	ENST00000376351.3	+	11	3266	c.2907G>A	c.(2905-2907)aaG>aaA	p.K969K	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	969						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.K969K(1)		breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						AGCCAAGAAAGCCTCAGAAAT	0.453000													54	91					0	0	1	0	0
KMT2C	58508	broad.mit.edu	37	7	151873700	151873700	+	Silent	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr7:151873700G>A	ENST00000355193.2	-	38	9056	c.8838C>T	c.(8836-8838)tcC>tcT	p.S2946S	KMT2C_ENST00000262189.6_Silent_p.S2946S					lysine (K)-specific methyltransferase 2C																		GATTGGATGGGGAGGCCGGCA	0.468000													16	28					0	0	1	0	0
MCF2L2	23101	broad.mit.edu	37	3	183013108	183013108	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr3:183013108G>A	ENST00000328913.3	-	13	1952	c.1655C>T	c.(1654-1656)aCc>aTc	p.T552I	B3GNT5_ENST00000462559.1_Intron|MCF2L2_ENST00000473233.1_Missense_Mutation_p.T552I|MCF2L2_ENST00000447025.2_Missense_Mutation_p.T552I|MCF2L2_ENST00000414362.2_Missense_Mutation_p.T552I	NM_015078.2	NP_055893.2	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	552					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			GGGCTGGCTGGTTTTTGATGA	0.493000													28	48					0	0	1	0	0
CCNB3	85417	broad.mit.edu	37	X	50052246	50052246	+	Silent	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chrX:50052246G>A	ENST00000376042.1	+	6	1375	c.1077G>A	c.(1075-1077)gaG>gaA	p.E359E	CCNB3_ENST00000348603.2_Intron|CCNB3_ENST00000276014.7_Silent_p.E359E|CCNB3_ENST00000376038.1_Intron			Q8WWL7	CCNB3_HUMAN	cyclin B3	359					cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding			breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					ACTTTAAAGAGGATTCCCTTG	0.433000													38	68					0	0	1	0	0
NUTM1	256646	broad.mit.edu	37	15	34649668	34649668	+	Silent	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr15:34649668G>A	ENST00000537011.1	+	8	3841	c.3459G>A	c.(3457-3459)agG>agA	p.R1153R	NUTM1_ENST00000438749.3_Silent_p.R1143R|NUTM1_ENST00000333756.4_Silent_p.R1125R					NUT midline carcinoma, family member 1																		CGGGCAGAAGGAAGAAACGAC	0.587000													47	78					0	0	1	0	0
LPHN2	23266	broad.mit.edu	37	1	82416126	82416126	+	Silent	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr1:82416126G>A	ENST00000370728.1	+	9	2097	c.1452G>A	c.(1450-1452)agG>agA	p.R484R	LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370713.1_Silent_p.R484R|LPHN2_ENST00000394879.1_Silent_p.R484R|LPHN2_ENST00000370717.2_Silent_p.R484R|LPHN2_ENST00000370721.1_Silent_p.R422R|LPHN2_ENST00000370730.1_Silent_p.R484R|LPHN2_ENST00000370723.1_Silent_p.R484R|LPHN2_ENST00000370725.1_Silent_p.R484R|LPHN2_ENST00000319517.6_Silent_p.R484R|LPHN2_ENST00000370727.1_Silent_p.R484R|LPHN2_ENST00000359929.3_Silent_p.R484R|LPHN2_ENST00000370715.1_Silent_p.R484R|LPHN2_ENST00000271029.4_Silent_p.R484R|LPHN2_ENST00000335786.5_Silent_p.R484R			O95490	LPHN2_HUMAN	latrophilin 2	484					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding	p.R484R(2)		NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		AGACACAAAGGGGAATGATGG	0.393000													29	48					0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	62023696	62023696	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr10:62023696C>T	ENST00000280772.1	-	6	787	c.596G>A	c.(595-597)gGa>gAa	p.G199E	ANK3_ENST00000373827.2_Missense_Mutation_p.G193E|ANK3_ENST00000503366.1_Missense_Mutation_p.G182E	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	199					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						ACGCACTTTTCCTTTGGTGTC	0.517000													15	26					0	0	1	0	0
ANKRD33	341405	broad.mit.edu	37	12	52284716	52284716	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr12:52284716C>T	ENST00000301190.6	+	5	1213	c.986C>T	c.(985-987)cCt>cTt	p.P329L	ANKRD33_ENST00000340970.4_Missense_Mutation_p.P204L|ANKRD33_ENST00000547119.1_3'UTR|ANKRD33_ENST00000538991.1_Missense_Mutation_p.P135L	NM_001130015.1|NM_182608.3	NP_001123487.1|NP_872414.3	Q7Z3H0	ANR33_HUMAN	ankyrin repeat domain 33	204										endometrium(2)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.0969)		ACTCTGTGCCCTGACCATCCA	0.662000													17	21					0	0	1	0	0
AGR3	155465	broad.mit.edu	37	7	16902252	16902252	+	Missense_Mutation	SNP	C	C	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr7:16902252C>A	ENST00000310398.2	-	4	278	c.208G>T	c.(208-210)Gat>Tat	p.D70Y	AGR3_ENST00000402239.3_Missense_Mutation_p.D70Y	NM_176813.3	NP_789783.1	Q8TD06	AGR3_HUMAN	anterior gradient 3	70						extracellular region				central_nervous_system(1)|kidney(8)|lung(2)|skin(1)|stomach(1)	13	Lung NSC(10;0.0376)|all_lung(11;0.0721)|all_epithelial(12;0.202)			UCEC - Uterine corpus endometrioid carcinoma (126;0.184)		TATTGACAATCCTCCAGGTGA	0.289000													32	69					9.21846e-06	9.23404e-06	1	1	0
LRRC30	339291	broad.mit.edu	37	18	7231273	7231273	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr18:7231273G>A	ENST00000383467.2	+	1	151	c.137G>A	c.(136-138)cGg>cAg	p.R46Q		NM_001105581.1	NP_001099051.1	A6NM36	LRC30_HUMAN	leucine rich repeat containing 30	46										central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						CTGCTGAAGCGGGGCATGCAC	0.597000													38	46					0	0	1	0	0
PSD3	23362	broad.mit.edu	37	8	18658873	18658873	+	Missense_Mutation	SNP	A	A	C			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr8:18658873A>C	ENST00000440756.2	-	7	2032	c.1930T>G	c.(1930-1932)Tct>Gct	p.S644A	PSD3_ENST00000286485.8_Missense_Mutation_p.S110A|PSD3_ENST00000327040.8_Missense_Mutation_p.S644A|PSD3_ENST00000523619.1_Missense_Mutation_p.S579A			Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	644	SEC7.				regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		CCCACAAGAGAGAATGCTTTA	0.299000													15	9					0	0	1	0	0
SYTL2	54843	broad.mit.edu	37	11	85447645	85447645	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr11:85447645G>A	ENST00000316356.4	-	6	1049	c.485C>T	c.(484-486)cCg>cTg	p.P162L	SYTL2_ENST00000524452.1_Missense_Mutation_p.P161L|SYTL2_ENST00000528231.1_Missense_Mutation_p.P161L|SYTL2_ENST00000389960.4_Missense_Mutation_p.P161L|SYTL2_ENST00000527523.1_Missense_Mutation_p.P113L			Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	161					intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		GCTATTAAACGGATTCTTCCT	0.343000													16	62					0	0	1	0	0
SALL1	6299	broad.mit.edu	37	16	51175082	51175082	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr16:51175082G>A	ENST00000440970.1	-	2	1191	c.760C>T	c.(760-762)Ccg>Tcg	p.P254S	SALL1_ENST00000541611.1_Intron|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000251020.4_Missense_Mutation_p.P351S	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	351					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			TCAGAGGACGGGGTGGTAACT	0.517000													45	16					0	0	1	0	0
SIGLEC12	89858	broad.mit.edu	37	19	51995067	51995067	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr19:51995067G>A	ENST00000291707.3	-	8	1671	c.1616C>T	c.(1615-1617)tCc>tTc	p.S539F	SIGLEC12_ENST00000598614.1_Missense_Mutation_p.S421F	NM_053003.2	NP_443729.1	Q96PQ1	SIG12_HUMAN	sialic acid binding Ig-like lectin 12 (gene/pseudogene)	539					cell adhesion	integral to membrane	sugar binding			NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		ATCTGCCGGGGATTCAATCAG	0.612000													20	36					0	0	1	0	0
JUP	3728	broad.mit.edu	37	17	39775896	39775896	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr17:39775896C>T	ENST00000540235.1	-	11	1725	c.1726G>A	c.(1726-1728)Gat>Aat	p.D576N	KRT17_ENST00000311208.8_Missense_Mutation_p.D417N			P14923	PLAK_HUMAN	junction plakoglobin	0					adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens	alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		ACCTTGCCATCCTGGACCTCT	0.662000													44	50					0	0	1	0	0
SIGLEC1	6614	broad.mit.edu	37	20	3682164	3682164	+	Silent	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr20:3682164G>A	ENST00000344754.4	-	6	1352	c.1353C>T	c.(1351-1353)atC>atT	p.I451I	SIGLEC1_ENST00000202578.4_Silent_p.I451I	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	451	Ig-like C2-type 4.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						TGGAGGCCAGGATATGACCCC	0.622000													19	27					0	0	1	0	0
C6orf226	441150	broad.mit.edu	37	6	42858347	42858347	+	Silent	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr6:42858347G>A	ENST00000408925.2	-	1	207	c.180C>T	c.(178-180)ccC>ccT	p.P60P		NM_001008739.1	NP_001008739.1	Q5I0X4	CF226_HUMAN	chromosome 6 open reading frame 226	60										lung(2)	2						CGGCCTCCCAGGGCTTGGGCC	0.706000													52	13					0	0	1	0	0
CCDC129	223075	broad.mit.edu	37	7	31692233	31692233	+	Silent	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr7:31692233C>T	ENST00000319386.3	+	14	3474	c.2481C>T	c.(2479-2481)atC>atT	p.I827I	CCDC129_ENST00000409210.1_Silent_p.I883I|CCDC129_ENST00000451887.2_Silent_p.I1001I|CCDC129_ENST00000407970.3_Silent_p.I975I			Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	975	Cys-rich.									cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						GTTCTAAAATCCACCCAGGCA	0.527000													14	20					0	0	1	0	0
L1CAM	3897	broad.mit.edu	37	X	153137687	153137687	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chrX:153137687C>T	ENST00000370060.1	-	5	509	c.320G>A	c.(319-321)aGg>aAg	p.R107K	L1CAM_ENST00000370055.1_Missense_Mutation_p.R102K|L1CAM_ENST00000370057.3_Missense_Mutation_p.R107K|L1CAM_ENST00000543994.1_Missense_Mutation_p.R109K|L1CAM_ENST00000538883.1_Missense_Mutation_p.R109K|L1CAM_ENST00000361981.3_Missense_Mutation_p.R102K|L1CAM_ENST00000361699.4_Missense_Mutation_p.R107K	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	107	Ig-like C2-type 1.				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCCCTGGAACCTCTGAGCAAA	0.602000													32	39					0	0	1	0	0
OR5W2	390148	broad.mit.edu	37	11	55682049	55682049	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr11:55682049C>T	ENST00000344514.1	-	1	9	c.10G>A	c.(10-12)Gaa>Aaa	p.E4K		NM_001001960.1	NP_001001960.1	Q8NH69	OR5W2_HUMAN	olfactory receptor, family 5, subfamily W, member 2	4					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						GAGCAATTTTCCCAGTCCATT	0.338000													18	33					0	0	1	0	0
POP1	10940	broad.mit.edu	37	8	99146235	99146235	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr8:99146235C>T	ENST00000401707.2	+	6	875	c.794C>T	c.(793-795)gCg>gTg	p.A265V	POP1_ENST00000349693.3_Missense_Mutation_p.A265V	NM_001145860.1|NM_001145861.1	NP_001139332.1|NP_001139333.1	Q99575	POP1_HUMAN	processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae)	265					tRNA 5'-leader removal|tRNA catabolic process	nucleolar ribonuclease P complex|ribonuclease MRP complex	identical protein binding|ribonuclease MRP activity|ribonuclease P activity			autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.145)			ATACTAAAGGCGCTTTCTGGA	0.338000													29	28					0	0	1	0	0
SPATA18	132671	broad.mit.edu	37	4	52944959	52944959	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr4:52944959C>T	ENST00000295213.4	+	8	1453	c.1079C>T	c.(1078-1080)tCg>tTg	p.S360L	SPATA18_ENST00000419395.2_Missense_Mutation_p.S328L	NM_145263.2	NP_660306.1	Q8TC71	MIEAP_HUMAN	spermatogenesis associated 18	360					mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus	mitochondrial outer membrane	protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)			GTGAGAAAATCGTTGACACCA	0.378000													51	50					0	0	1	0	0
LRRC61	65999	broad.mit.edu	37	7	150034480	150034480	+	Missense_Mutation	SNP	G	G	A	rs144138287	byFrequency	TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr7:150034480G>A	ENST00000359623.4	+	3	1118	c.530G>A	c.(529-531)cGa>cAa	p.R177Q	LRRC61_ENST00000323078.7_Missense_Mutation_p.R177Q|LRRC61_ENST00000493307.1_Missense_Mutation_p.R177Q	NM_001142928.1	NP_001136400.1	Q9BV99	LRC61_HUMAN	leucine rich repeat containing 61	177	LRRCT.									endometrium(2)|large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	5			OV - Ovarian serous cystadenocarcinoma(82;0.011)			CAGCTGTGCCGAGACCTGGAC	0.662000													20	25					0	0	1	0	0
TNKS1BP1	85456	broad.mit.edu	37	11	57070044	57070044	+	Silent	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr11:57070044G>A	ENST00000532437.1	-	6	4883	c.4572C>T	c.(4570-4572)acC>acT	p.T1524T	TNKS1BP1_ENST00000358252.3_Silent_p.T1524T			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	1524	Acidic.|Tankyrase-binding.				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				AAGAGCCCCAGGTGCCATCCA	0.657000													16	12					0	0	1	0	0
POTEC	388468	broad.mit.edu	37	18	14513675	14513675	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr18:14513675T>C	ENST00000358970.5	-	10	1518	c.1519A>G	c.(1519-1521)Aaa>Gaa	p.K507E		NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	507								p.K507E(2)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						GAATTCATTTTCTTTTCAGCC	0.284000													4	74					0	0	1	0	0
CNTNAP2	26047	broad.mit.edu	37	7	146741041	146741041	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr7:146741041G>A	ENST00000361727.3	+	4	961	c.445G>A	c.(445-447)Gaa>Aaa	p.E149K		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	149	F5/8 type C.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			GGTCCGGCACGAATTACAGCA	0.423000										HNSCC(39;0.1)			49	51					0	0	1	0	0
TRPC7	57113	broad.mit.edu	37	5	135587547	135587547	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr5:135587547C>T	ENST00000513104.1	-	6	1651	c.1369G>A	c.(1369-1371)Gaa>Aaa	p.E457K	TRPC7_ENST00000426057.2_Missense_Mutation_p.E341K|TRPC7_ENST00000355180.3_Missense_Mutation_p.E396K	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	457					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TCCCAGATTTCCTTGCATTCG	0.542000													21	32					0	0	1	0	0
PRKDC	5591	broad.mit.edu	37	8	48802825	48802825	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr8:48802825C>T	ENST00000314191.2	-	33	4117	c.4061G>A	c.(4060-4062)gGa>gAa	p.G1354E	PRKDC_ENST00000338368.3_Missense_Mutation_p.G1354E|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	1355					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				TACCTTCCATCCTTCCGGGGA	0.438000								Non-homologous end-joining					2	2					0	0	1	0	0
INPP5D	3635	broad.mit.edu	37	2	234106777	234106777	+	Silent	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr2:234106777C>T	ENST00000359570.5	+	27	2694	c.2694C>T	c.(2692-2694)atC>atT	p.I898I	INPP5D_ENST00000455936.2_Silent_p.I662I|INPP5D_ENST00000450745.1_Silent_p.I662I			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	910					apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		TCACTGAAATCATCAACCCCA	0.627000													14	12					0	0	1	0	0
LRTM1	57408	broad.mit.edu	37	3	54958704	54958704	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr3:54958704C>T	ENST00000273286.5	-	2	708	c.546G>A	c.(544-546)tgG>tgA	p.W182*	CACNA2D3_ENST00000288197.5_Intron|LRTM1_ENST00000493075.1_Nonsense_Mutation_p.W106*|CACNA2D3_ENST00000415676.2_Intron|CACNA2D3_ENST00000474759.1_Intron|CACNA2D3_ENST00000490478.1_Intron	NM_020678.2	NP_065729.1	Q9HBL6	LRTM1_HUMAN	leucine-rich repeats and transmembrane domains 1	182	LRRCT.					integral to membrane				breast(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(4)	21				KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502)		AATTGCATTTCCAGAGGTTGT	0.468000													39	49					0	0	1	0	0
DUS2	54920	broad.mit.edu	37	16	68104927	68104927	+	Silent	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr16:68104927C>T	ENST00000565263.1	+	12	1220	c.726C>T	c.(724-726)gcC>gcT	p.A242A	DUS2L_ENST00000432752.1_Silent_p.A207A|DUS2L_ENST00000358896.6_Silent_p.A242A	NM_017803.3	NP_060273.1	Q9NX74	DUS2L_HUMAN		242					tRNA processing	endoplasmic reticulum	double-stranded RNA binding|flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|stomach(1)	24		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0131)|Epithelial(162;0.0564)		TGATGGTGGCCCGAGCAGCCA	0.527000													33	12					0	0	1	0	0
GABRB3	2562	broad.mit.edu	37	15	26806258	26806258	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr15:26806258G>A	ENST00000541819.2	-	9	1171	c.1069C>T	c.(1069-1071)Ccc>Tcc	p.P357S	GABRB3_ENST00000311550.5_Missense_Mutation_p.P301S|GABRB3_ENST00000545868.1_Missense_Mutation_p.P216S|GABRB3_ENST00000299267.4_Missense_Mutation_p.P301S|GABRB3_ENST00000400188.3_Missense_Mutation_p.P230S			P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	301					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	TTGACATAGGGGATTTTGGGC	0.463000													29	60					0	0	1	0	0
RNF111	54778	broad.mit.edu	37	15	59323751	59323751	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr15:59323751C>T	ENST00000348370.4	+	2	1163	c.730C>T	c.(730-732)Cga>Tga	p.R244*	RNF111_ENST00000557998.1_Nonsense_Mutation_p.R244*|RNF111_ENST00000559209.1_Nonsense_Mutation_p.R244*|RNF111_ENST00000561186.1_Nonsense_Mutation_p.R244*|RNF111_ENST00000434298.1_Nonsense_Mutation_p.R244*	NM_001270528.1|NM_001270529.1|NM_017610.7	NP_001257457.1|NP_001257458.1|NP_060080.6	Q6ZNA4	RN111_HUMAN	ring finger protein 111	244	Interaction with AXIN1.				multicellular organismal development|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				all cancers(107;0.194)		AGTGTTAGCTCGAAGAAAATA	0.388000													61	69					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9058260	9058260	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr19:9058260G>A	ENST00000397910.4	-	3	29389	c.29186C>T	c.(29185-29187)tCt>tTt	p.S9729F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9731	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						TGATGTCAGAGAAGAGGAAGA	0.488000													19	25					0	0	1	0	0
STAMBP	10617	broad.mit.edu	37	2	74077540	74077540	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr2:74077540C>T	ENST00000394070.2	+	7	1408	c.905C>T	c.(904-906)cCc>cTc	p.P302L	STAMBP_ENST00000394073.1_Missense_Mutation_p.P302L|STAMBP_ENST00000486458.1_3'UTR|STAMBP_ENST00000339566.3_Missense_Mutation_p.P302L|STAMBP_ENST00000409707.1_Missense_Mutation_p.P302L	NM_213622.2	NP_998787.1	O95630	STABP_HUMAN	STAM binding protein	302	MPN.				JAK-STAT cascade|positive regulation of cell proliferation	early endosome|membrane|nucleus	metal ion binding|metallopeptidase activity|protein binding			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	18						GTTCTCATCCCCAAGCAAAGT	0.483000													45	108					0	0	1	0	0
ERCC6	2074	broad.mit.edu	37	10	50732569	50732569	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr10:50732569T>C	ENST00000355832.5	-	5	985	c.907A>G	c.(907-909)Acg>Gcg	p.T303A	PGBD3_ENST00000603152.1_Missense_Mutation_p.T303A|ERCC6-PGBD3_ENST00000515869.1_Missense_Mutation_p.T303A|ERCC6-PGBD3_ENST00000447839.2_Missense_Mutation_p.T303A	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6	303					base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						GCTGGAGGCGTGACTGGGGCT	0.423000								Direct reversal of damage;Nucleotide excision repair (NER)					58	94					0	0	1	0	0
CYP4B1	1580	broad.mit.edu	37	1	47264800	47264800	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr1:47264800G>A	ENST00000271153.4	+	1	83	c.47G>A	c.(46-48)tGg>tAg	p.W16*	CYP4B1_ENST00000546128.1_Intron|CYP4B1_ENST00000371919.4_Nonsense_Mutation_p.W16*|CYP4B1_ENST00000371923.4_Nonsense_Mutation_p.W16*			P13584	CP4B1_HUMAN	cytochrome P450, family 4, subfamily B, polypeptide 1	16					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)					TTGGGCCTGTGGGCTTCTGGG	0.582000													18	5					0	0	1	0	0
CCR8	1237	broad.mit.edu	37	3	39373977	39373977	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr3:39373977G>A	ENST00000326306.4	+	2	293	c.155G>A	c.(154-156)gGa>gAa	p.G52E	CCR8_ENST00000414803.1_Intron|CCR8_ENST00000545843.1_Intron	NM_005201.3	NP_005192.1	P51685	CCR8_HUMAN	chemokine (C-C motif) receptor 8	52					cell adhesion|chemotaxis|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane	coreceptor activity			NS(3)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0504)|Kidney(284;0.0635)		AGTCTTCTGGGAAACAGCCTG	0.478000													51	82					0	0	1	0	0
CCDC33	80125	broad.mit.edu	37	15	74610954	74610954	+	Silent	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr15:74610954C>T	ENST00000268082.4	+	1	44	c.24C>T	c.(22-24)tcC>tcT	p.S8S	CCDC33_ENST00000558821.1_Silent_p.S8S|CCDC33_ENST00000321288.5_Intron|CCDC33_ENST00000398814.3_Intron			Q8N5R6	CCD33_HUMAN	coiled-coil domain containing 33	0							protein binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						GGCCCCCATCCCCTCCAGCCC	0.627000													7	12					0	0	1	0	0
MIR526A1	574475	broad.mit.edu	37	19	54209512	54209512	+	RNA	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr19:54209512C>T	ENST00000384897.1	+	0	7					NR_030197.1																						AGAGCTCAGGCTGTGACCCTC	0.413000													39	76					0	0	1	0	0
CHEK2	11200	broad.mit.edu	37	22	29091841	29091841	+	Silent	SNP	G	G	A	rs146546850	byFrequency	TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr22:29091841G>A	ENST00000544772.1	-	12	1889	c.453C>T	c.(451-453)tcC>tcT	p.S151S	CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000404276.1_Silent_p.S372S	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN	checkpoint kinase 2	372	FHA.				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.S372S(8)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCAAAATCTTGGAGTGCCCAA	0.413000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					6	32					0	0	1	0	0
TEX11	56159	broad.mit.edu	37	X	69829020	69829020	+	Silent	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chrX:69829020C>T	ENST00000395889.2	-	23	2000	c.1845G>A	c.(1843-1845)gtG>gtA	p.V615V	TEX11_ENST00000374320.2_Silent_p.V290V|TEX11_ENST00000374333.2_Silent_p.V600V|TEX11_ENST00000344304.3_Silent_p.V615V	NM_001003811.1	NP_001003811.1	Q8IYF3	TEX11_HUMAN	testis expressed 11	615							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)					GAGAAAGTTTCACAAAGGCTG	0.378000													12	19					0	0	1	0	0
CCDC60	160777	broad.mit.edu	37	12	119916966	119916966	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr12:119916966C>T	ENST00000327554.2	+	4	874	c.409C>T	c.(409-411)Cac>Tac	p.H137Y	CCDC60_ENST00000546345.1_3'UTR|RP11-768F21.1_ENST00000509470.2_lincRNA	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	137										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		CACTCCCATCCACAGCTGCAT	0.473000													17	23					0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	62023697	62023697	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr10:62023697C>T	ENST00000280772.1	-	6	786	c.595G>A	c.(595-597)Gga>Aga	p.G199R	ANK3_ENST00000373827.2_Missense_Mutation_p.G193R|ANK3_ENST00000503366.1_Missense_Mutation_p.G182R	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	199					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						CGCACTTTTCCTTTGGTGTCA	0.522000													15	26					0	0	1	0	0
ANKRD24	170961	broad.mit.edu	37	19	4217291	4217291	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr19:4217291C>T	ENST00000600132.1	+	18	2410	c.2134C>T	c.(2134-2136)Cct>Tct	p.P712S	ANKRD24_ENST00000318934.4_Missense_Mutation_p.P712S|ANKRD24_ENST00000262970.5_Missense_Mutation_p.P802S	NM_133475.1	NP_597732.1	Q8TF21	ANR24_HUMAN	ankyrin repeat domain 24	712										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)		CATCCTACATCCTGGTGCCGC	0.647000													4	6					0	0	1	0	0
SLC4A9	83697	broad.mit.edu	37	5	139745124	139745124	+	Silent	SNP	A	A	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr5:139745124A>T	ENST00000230993.6	+	12	1778	c.1743A>T	c.(1741-1743)atA>atT	p.I581I	SLC4A9_ENST00000432095.2_Silent_p.I546I|SLC4A9_ENST00000506545.1_Silent_p.I557I|SLC4A9_ENST00000507527.1_Silent_p.I581I|SLC4A9_ENST00000506757.2_Silent_p.I557I	NM_001258428.1	NP_001245357.1	Q96Q91	B3A4_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 9	581	Membrane (anion exchange).					integral to membrane|plasma membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCAATGGATAAGGACAAGGC	0.507000													4	11					0	0	1	0	0
WWC3	55841	broad.mit.edu	37	X	10102582	10102582	+	Silent	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chrX:10102582G>A	ENST00000380861.4	+	19	3100	c.2709G>A	c.(2707-2709)acG>acA	p.T903T	WWC3_ENST00000454666.1_Silent_p.T903T	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN	WWC family member 3	903										NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						GGAGTGGCACGATTGTCCGTT	0.552000													63	86					0	0	1	0	0
TELO2	9894	broad.mit.edu	37	16	1545593	1545593	+	Silent	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr16:1545593G>A	ENST00000262319.6	+	3	861	c.582G>A	c.(580-582)cgG>cgA	p.R194R		NM_016111.3	NP_057195.2	Q9Y4R8	TELO2_HUMAN	telomere maintenance 2	194						chromosome, telomeric region|cytoplasm|membrane|nucleus	protein binding			NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	19		Hepatocellular(780;0.219)				AGGTCGTCCGGGTGCTGCAGG	0.667000													28	45					0	0	1	0	0
KRTAP13-4	284827	broad.mit.edu	37	21	31802855	31802855	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr21:31802855C>T	ENST00000334068.2	+	1	284	c.262C>T	c.(262-264)Cgg>Tgg	p.R88W		NM_181600.1	NP_853631.1	Q3LI77	KR134_HUMAN	keratin associated protein 13-4	88						intermediate filament		p.R88W(1)		NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	15						TCTAGGCTTTCGGTCCAGCAG	0.587000													19	29					0	0	1	0	0
HRAS	3265	broad.mit.edu	37	11	533875	533875	+	Missense_Mutation	SNP	G	G	T	rs28933406		TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr11:533875G>T	ENST00000417302.1	-	3	368	c.181C>A	c.(181-183)Cag>Aag	p.Q61K	HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000451590.1_Missense_Mutation_p.Q61K|HRAS_ENST00000397596.2_Missense_Mutation_p.Q61K|HRAS_ENST00000311189.7_Missense_Mutation_p.Q61K|HRAS_ENST00000397594.1_Missense_Mutation_p.Q61K	NM_176795.3	NP_789765.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	61			Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406).|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).		activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	p.Q61K(61)|p.Q61R(1)|p.Q61E(1)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		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)	Sulindac(DB00605)	TACTCCTCCTGGCCGGCGGTA	0.597000		6	Mis		"""infrequent sarcomas, rare other types"""	"""rhadomyosarcoma, ganglioneuroblastoma, bladder"""			Costello syndrome	HNSCC(11;0.0054)			33	46					4.74835e-14	4.7725e-14	1	1	0
ABCB9	23457	broad.mit.edu	37	12	123424809	123424809	+	Missense_Mutation	SNP	G	G	A	rs140303524		TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr12:123424809G>A	ENST00000542678.1	-	9	4430	c.1592C>T	c.(1591-1593)cCc>cTc	p.P531L	ABCB9_ENST00000442028.2_Missense_Mutation_p.P531L|ABCB9_ENST00000280560.8_Missense_Mutation_p.P531L|ABCB9_ENST00000541983.1_5'UTR|ABCB9_ENST00000392439.3_Missense_Mutation_p.P531L|ABCB9_ENST00000540285.1_Missense_Mutation_p.P468L|ABCB9_ENST00000346530.5_Missense_Mutation_p.P488L|ABCB9_ENST00000442833.2_Missense_Mutation_p.P531L|ABCB9_ENST00000344275.7_Missense_Mutation_p.P531L			Q9NP78	ABCB9_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 9	531	ABC transporter.				positive regulation of T cell mediated cytotoxicity|protein transport	lysosomal membrane|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(1)	18	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.84e-05)|Epithelial(86;0.000152)|BRCA - Breast invasive adenocarcinoma(302;0.111)		CACCTTGCCGGGGGACAGGCT	0.632000													19	18					0	0	1	0	0
SPATA31A3	727830	broad.mit.edu	37	9	40704187	40704187	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr9:40704187G>A	ENST00000356699.5	+	4	1873	c.1844G>A	c.(1843-1845)gGa>gAa	p.G615E		NM_001083124.1	NP_001076593.1			SPATA31 subfamily A, member 3																		GGCAACCTGGGAAGGATCCAA	0.527000													40	6					0	0	1	0	0
SMC4	10051	broad.mit.edu	37	3	160135717	160135717	+	Silent	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr3:160135717C>T	ENST00000357388.3	+	11	2095	c.1644C>T	c.(1642-1644)ctC>ctT	p.L548L	RP11-432B6.3_ENST00000483754.1_Intron|SMC4_ENST00000469762.1_Silent_p.L523L|SMC4_ENST00000462787.1_Silent_p.L548L|SMC4_ENST00000360111.2_Silent_p.L548L|SMC4_ENST00000344722.5_Silent_p.L548L	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	structural maintenance of chromosomes 4	548					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)			AAGGAAAACTCCCTCAAACTG	0.373000													14	25					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141460020	141460020	+	Silent	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr2:141460020C>T	ENST00000389484.3	-	38	7097	c.6126G>A	c.(6124-6126)ccG>ccA	p.P2042P		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2042					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AGATGCCATTCGGCCATGCTA	0.423000										TSP Lung(27;0.18)			46	45					0	0	1	0	0
P4HA1	5033	broad.mit.edu	37	10	74768012	74768012	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr10:74768012G>A	ENST00000412021.2	-	16	1906	c.1573C>T	c.(1573-1575)Cga>Tga	p.R525*	P4HA1_ENST00000263556.3_Nonsense_Mutation_p.R525*|P4HA1_ENST00000440381.1_Nonsense_Mutation_p.R507*|P4HA1_ENST00000307116.2_Nonsense_Mutation_p.R525*|P4HA1_ENST00000373008.2_Nonsense_Mutation_p.R525*|P4HA1_ENST00000394890.2_Nonsense_Mutation_p.R525*	NM_001142595.1	NP_001136067.1	P13674	P4HA1_HUMAN	prolyl 4-hydroxylase, alpha polypeptide I	525						endoplasmic reticulum lumen|mitochondrion	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15	Prostate(51;0.0198)				Hydralazine(DB01275)|L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	CAAGGTCTTCGAAATTCTTGT	0.343000													24	59					0	0	1	0	0
ATP2A1	487	broad.mit.edu	37	16	28892329	28892329	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr16:28892329G>A	ENST00000395503.4	+	4	497	c.313G>A	c.(313-315)Ggg>Agg	p.G105R	ATP2A1_ENST00000357084.3_Missense_Mutation_p.G105R|ATP2A1_ENST00000536376.1_5'UTR	NM_004320.4	NP_004311.1	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, cardiac muscle, fast twitch 1	105					apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						TGCCATCGTGGGGGTTTGGCA	0.547000													25	37					0	0	1	0	0
GPR139	124274	broad.mit.edu	37	16	20043449	20043449	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr16:20043449C>T	ENST00000570682.1	-	2	970	c.670G>A	c.(670-672)Ggg>Agg	p.G224R		NM_001002911.2	NP_001002911.1	Q6DWJ6	GP139_HUMAN	G protein-coupled receptor 139	224						integral to membrane|plasma membrane				autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						GTGGTCTTCCCCGTGGAGTAG	0.522000													36	80					0	0	1	0	0
CYP4F22	126410	broad.mit.edu	37	19	15658923	15658923	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr19:15658923G>A	ENST00000269703.2	+	11	1340	c.1141G>A	c.(1141-1143)Gat>Aat	p.D381N	CYP4F22_ENST00000601005.2_Missense_Mutation_p.D381N	NM_173483.3	NP_775754.2	Q6NT55	CP4FN_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 22	381						endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			endometrium(6)|large_intestine(9)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	37						CCCCAGGGACGATCTGACTCA	0.532000													46	78					0	0	1	0	0
NID2	22795	broad.mit.edu	37	14	52481856	52481856	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr14:52481856C>T	ENST00000216286.5	-	15	3165	c.3166G>A	c.(3166-3168)Gga>Aga	p.G1056R	NID2_ENST00000541773.1_Missense_Mutation_p.G955R	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	1056	Thyroglobulin type-1 2.					basement membrane	calcium ion binding|collagen binding			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					TCGCTCTTTCCGTGGCACTGC	0.647000													4	25					0	0	1	0	0
ABCC6	368	broad.mit.edu	37	16	16255397	16255397	+	Silent	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr16:16255397G>A	ENST00000205557.7	-	25	3560	c.3531C>T	c.(3529-3531)ctC>ctT	p.L1177L		NM_001171.5	NP_001162.4	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	1177	ABC transmembrane type-1 2.				response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		CATTCCCCAGGAGCTCCACAT	0.607000													16	23					0	0	1	0	0
DNMT3L	29947	broad.mit.edu	37	21	45679424	45679424	+	Silent	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr21:45679424G>A	ENST00000270172.3	-	5	723	c.240C>T	c.(238-240)ttC>ttT	p.F80F	DNMT3L_ENST00000418993.1_Silent_p.F80F	NM_013369.3	NP_037501.2	Q9UJW3	DNM3L_HUMAN	DNA (cytosine-5-)-methyltransferase 3-like	80	ADD.				DNA methylation|negative regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|spermatogenesis	cytosol	enzyme activator activity|enzyme binding|metal ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(3)	11				Colorectal(79;0.0165)|READ - Rectum adenocarcinoma(84;0.0781)		GGGCATCCAGGAACTTGTCCT	0.577000													27	37					0	0	1	0	0
MB21D2	151963	broad.mit.edu	37	3	192517264	192517264	+	Silent	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr3:192517264G>A	ENST00000392452.2	-	2	707	c.387C>T	c.(385-387)gaC>gaT	p.D129D		NM_178496.3	NP_848591.2	Q8IYB1	M21D2_HUMAN	Mab-21 domain containing 2	129										endometrium(3)|kidney(1)|large_intestine(4)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	31						GCTGATTACGGTCATGCAGCT	0.527000													25	38					0	0	1	0	0
TEX13B	56156	broad.mit.edu	37	X	107224914	107224914	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chrX:107224914C>T	ENST00000302917.1	-	2	536	c.444G>A	c.(442-444)tgG>tgA	p.W148*		NM_031273.2	NP_112563.1	Q9BXU2	TX13B_HUMAN	testis expressed 13B	148										breast(1)|endometrium(5)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28						GGAAGAGCTTCCATCTCAGCA	0.592000													40	58					0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10468104	10468104	+	Silent	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr8:10468104C>T	ENST00000382483.3	-	4	3727	c.3504G>A	c.(3502-3504)ctG>ctA	p.L1168L		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	1168					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		GGCCTGAGTCCAGCTGGTCTT	0.602000													21	6					0	0	1	0	0
SLC9A3	6550	broad.mit.edu	37	5	482759	482759	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr5:482759A>T	ENST00000264938.3	-	7	1269	c.1260T>A	c.(1258-1260)ttT>ttA	p.F420L	SLC9A3_ENST00000514375.1_Missense_Mutation_p.F420L	NM_004174.2	NP_004165.2	P48764	SL9A3_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3	420						cell surface|integral to membrane	sodium:hydrogen antiporter activity			NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			CCACCAGGGCAAAGGCCACGG	0.597000													12	23					0	0	1	0	0
HIST1H3C	8352	broad.mit.edu	37	6	26045863	26045863	+	Silent	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr6:26045863C>T	ENST00000540144.1	+	1	225	c.225C>T	c.(223-225)atC>atT	p.I75I		NM_003531.2	NP_003522.1	P68431	H31_HUMAN	histone cluster 1, H3c	75					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|skin(1)	8						TGCGAGAAATCGCCCAGGACT	0.627000													55	15					0	0	1	0	0
SLC7A8	23428	broad.mit.edu	37	14	23634548	23634548	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr14:23634548G>A	ENST00000316902.7	-	3	1179	c.454C>T	c.(454-456)Ccc>Tcc	p.P152S	SLC7A8_ENST00000469263.1_Missense_Mutation_p.P152S	NM_012244.3	NP_036376.2	Q9UHI5	LAT2_HUMAN	solute carrier family 7 (amino acid transporter light chain, L system), member 8	152					blood coagulation|cellular amino acid metabolic process|leukocyte migration|metal ion homeostasis|response to toxin	basolateral plasma membrane|cytoplasm|integral to plasma membrane	neutral amino acid transmembrane transporter activity|organic cation transmembrane transporter activity|peptide antigen binding|protein binding|toxin transporter activity			autonomic_ganglia(1)|endometrium(6)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|skin(1)	24	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.00809)	L-Alanine(DB00160)|L-Glutamine(DB00130)|L-Phenylalanine(DB00120)	AAGCAGGTGGGGAAGAGCGGC	0.562000													5	1					0	0	1	0	0
MYOCD	93649	broad.mit.edu	37	17	12666389	12666389	+	Splice_Site	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr17:12666389G>A	ENST00000425538.1	+	14	2589		c.e14-1		RP11-1090M7.1_ENST00000584772.1_RNA|MYOCD_ENST00000343344.4_Splice_Site	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN	myocardin						cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding	p.?(1)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		ATTGCCCACAGAAATGCCAGC	0.463000													27	10					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179595316	179595316	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr2:179595316C>T	ENST00000589042.1	-	61	18168	c.17944G>A	c.(17944-17946)Gaa>Aaa	p.E5982K	TTN_ENST00000591111.1_Missense_Mutation_p.E5665K|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.E4738K|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	5665	Ig-like 41.						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)			TCTGTACCTTCCAGCTGGCTG	0.423000													50	65					0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170034531	170034531	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr2:170034531G>A	ENST00000263816.3	-	53	10460	c.10175C>T	c.(10174-10176)tCt>tTt	p.S3392F	LRP2_ENST00000461418.1_5'UTR	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3392					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CTCCAAATCAGAGTACCTGCA	0.408000													15	28					0	0	1	0	0
OR2C3	81472	broad.mit.edu	37	1	247695113	247695113	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr1:247695113C>T	ENST00000366487.3	-	2	1062	c.701G>A	c.(700-702)gGg>gAg	p.G234E	GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000366490.3_Intron|GCSAML_ENST00000531662.1_Intron|GCSAML_ENST00000366491.2_Intron|GCSAML_ENST00000527541.1_Intron	NM_198074.4	NP_932340.3	Q8N628	OR2C3_HUMAN	olfactory receptor, family 2, subfamily C, member 3	234					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			CTTTCTCCGCCCTTCTGCTGA	0.552000													115	11					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90052422	90052422	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr5:90052422G>A	ENST00000405460.2	+	56	11828	c.11732G>A	c.(11731-11733)gGa>gAa	p.G3911E		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	3911					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GATCCCAGAGGAATTTTTATG	0.423000													21	32					0	0	1	0	0
ASXL3	80816	broad.mit.edu	37	18	31323920	31323920	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr18:31323920C>T	ENST00000269197.5	+	12	4108	c.4108C>T	c.(4108-4110)Cct>Tct	p.P1370S		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	1370					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						CAACAGATTTCCTTCTGAGAA	0.498000											OREG0024911	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	79	88					0	0	1	0	0
CACNA2D3	55799	broad.mit.edu	37	3	55107493	55107493	+	Silent	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr3:55107493C>T	ENST00000474759.1	+	36	3057	c.3009C>T	c.(3007-3009)atC>atT	p.I1003I	CACNA2D3_ENST00000288197.5_Silent_p.I1003I|CACNA2D3_ENST00000415676.2_Silent_p.I1003I|CACNA2D3_ENST00000478261.1_Intron|CACNA2D3_ENST00000490478.1_Silent_p.I909I	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	1003						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		TCCAGCAAATCCCAAGCAGCA	0.502000													17	32					0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32037503	32037503	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr6:32037503G>A	ENST00000375244.3	-	15	5615	c.5414C>T	c.(5413-5415)tCc>tTc	p.S1805F	TNXB_ENST00000375247.2_Missense_Mutation_p.S1805F			P22105	TENX_HUMAN	tenascin XB	1887	Fibronectin type-III 10.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GACCACAAAGGAGTCAAACTG	0.672000													17	1					0	0	1	0	0
RFWD2	64326	broad.mit.edu	37	1	176054928	176054928	+	Missense_Mutation	SNP	C	C	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr1:176054928C>A	ENST00000367669.3	-	10	1639	c.1125G>T	c.(1123-1125)agG>agT	p.R375S	RFWD2_ENST00000308769.8_Missense_Mutation_p.R351S	NM_022457.5	NP_071902.2	Q8NHY2	RFWD2_HUMAN	ring finger and WD repeat domain 2, E3 ubiquitin protein ligase	375					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest	centrosome|cytosol|focal adhesion|nuclear speck	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						TACGAGACATCCTTGTAGAAA	0.358000													32	44					2.1956e-27	2.21427e-27	1	1	0
CLSTN2	64084	broad.mit.edu	37	3	140275450	140275450	+	Silent	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr3:140275450C>T	ENST00000458420.3	+	11	1960	c.1770C>T	c.(1768-1770)tcC>tcT	p.S590S		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	590					homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						ACATCAACTCCAGGCAGTTCC	0.567000										HNSCC(16;0.037)			36	52					0	0	1	0	0
TRIM46	80128	broad.mit.edu	37	1	155148412	155148412	+	Missense_Mutation	SNP	T	T	G			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr1:155148412T>G	ENST00000392451.2	+	3	457	c.374T>G	c.(373-375)gTg>gGg	p.V125G	TRIM46_ENST00000334634.4_Missense_Mutation_p.V125G|TRIM46_ENST00000545012.1_5'UTR|TRIM46_ENST00000368382.1_Missense_Mutation_p.V102G|TRIM46_ENST00000543729.1_Missense_Mutation_p.V132G|TRIM46_ENST00000468878.1_3'UTR|TRIM46_ENST00000368383.3_Missense_Mutation_p.V125G|TRIM46_ENST00000368385.4_Missense_Mutation_p.V125G			Q7Z4K8	TRI46_HUMAN	tripartite motif containing 46	125						intracellular	zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	29	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CACCCCCAAGTGATCATGTTC	0.612000													271	24					0	0	1	0	0
GRIK3	2899	broad.mit.edu	37	1	37270541	37270541	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr1:37270541G>A	ENST00000373093.4	-	15	2632	c.2612C>T	c.(2611-2613)tCg>tTg	p.S871L	GRIK3_ENST00000373091.3_Intron			Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	0					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	AAATCAGCGCGAATCTCCATT	0.567000													28	3					0	0	1	0	0
OR5K1	26339	broad.mit.edu	37	3	98188933	98188933	+	Silent	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr3:98188933G>A	ENST00000332650.5	+	1	610	c.513G>A	c.(511-513)tcG>tcA	p.S171S		NM_001004736.2	NP_001004736.2	Q8NHB7	OR5K1_HUMAN	olfactory receptor, family 5, subfamily K, member 1	171					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TCTGTGGATCGAATCACATCA	0.398000													100	148					0	0	1	0	0
KSR2	283455	broad.mit.edu	37	12	117964916	117964916	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr12:117964916C>T	ENST00000425217.1	-	13	1778	c.1724G>A	c.(1723-1725)gGa>gAa	p.G575E	KSR2_ENST00000545002.1_5'UTR|KSR2_ENST00000339824.5_Missense_Mutation_p.G604E|KSR2_ENST00000302438.5_Missense_Mutation_p.G301E	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	604					intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TAATGGATTTCCTTCCAAGCT	0.443000													46	70					0	0	1	0	0
DRAM2	128338	broad.mit.edu	37	1	111667448	111667448	+	Silent	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr1:111667448C>T	ENST00000286692.4	-	5	872	c.255G>A	c.(253-255)gaG>gaA	p.E85E	DRAM2_ENST00000539140.1_Silent_p.E85E|DRAM2_ENST00000484310.1_5'UTR			Q6UX65	DRAM2_HUMAN	DNA-damage regulated autophagy modulator 2	85					apoptosis|induction of apoptosis	Golgi apparatus|integral to membrane|lysosomal membrane				endometrium(1)|large_intestine(5)|lung(3)	9						TGATAACGTTCTCTTCAGGAC	0.363000													27	34					0	0	1	0	0
TACC2	10579	broad.mit.edu	37	10	123845639	123845639	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr10:123845639G>A	ENST00000369005.1	+	4	3964	c.3624G>A	c.(3622-3624)atG>atA	p.M1208I	TACC2_ENST00000453444.2_Missense_Mutation_p.M1208I|TACC2_ENST00000515603.1_Missense_Mutation_p.M1208I|TACC2_ENST00000515273.1_Missense_Mutation_p.M1208I|TACC2_ENST00000334433.3_Missense_Mutation_p.M1208I|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000358010.1_Intron	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	1208						microtubule organizing center|nucleus	nuclear hormone receptor binding	p.M1208I(1)		NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				GGAGCACCATGGATTTTTCTA	0.607000													36	49					0	0	1	0	0
NLRP11	204801	broad.mit.edu	37	19	56319229	56319229	+	Missense_Mutation	SNP	G	G	A	rs141366900		TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr19:56319229G>A	ENST00000443188.1	-	6	2703	c.1993C>T	c.(1993-1995)Cgc>Tgc	p.R665C	NLRP11_ENST00000589093.1_Missense_Mutation_p.R665C|NLRP11_ENST00000589824.2_Intron|NLRP11_ENST00000360133.3_Intron|NLRP11_ENST00000592953.1_Missense_Mutation_p.R566C	NM_145007.3	NP_659444.2	P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	665							ATP binding	p.R665C(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		TTGAGTGTGCGAAGTTTACAG	0.423000													54	88					0	0	1	0	0
SYT10	341359	broad.mit.edu	37	12	33560122	33560122	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr12:33560122C>T	ENST00000228567.3	-	3	975	c.679G>A	c.(679-681)Gaa>Aaa	p.E227K	SYT10_ENST00000535526.1_Missense_Mutation_p.E46K	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	227						cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					TTGACATCTTCGTTTTGGTTG	0.383000													24	42					0	0	1	0	0
CYP2D7	1564	broad.mit.edu	37	22	42537418	42537418	+	RNA	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr22:42537418G>A	ENST00000435101.1	-	0	108				CYP2D7P1_ENST00000358097.4_RNA|CYP2D7P1_ENST00000433992.1_RNA																endometrium(1)	1						TGTGTTGGAGGAAGTTAGGCT	0.622000													7	36					0	0	1	0	0
GRID2	2895	broad.mit.edu	37	4	94547443	94547443	+	Silent	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr4:94547443C>T	ENST00000282020.4	+	14	2475	c.2217C>T	c.(2215-2217)ttC>ttT	p.F739F	GRID2_ENST00000510992.1_Silent_p.F644F	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	739					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	p.F739F(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	ATTATGCTTTCGTATGGGATG	0.343000													26	13					0	0	1	0	0
UNC5D	137970	broad.mit.edu	37	8	35541202	35541202	+	Silent	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr8:35541202C>T	ENST00000287272.2	+	5	728	c.708C>T	c.(706-708)atC>atT	p.I236I	UNC5D_ENST00000416672.1_Silent_p.I236I|UNC5D_ENST00000420357.1_Silent_p.I236I|UNC5D_ENST00000453357.2_Silent_p.I231I|UNC5D_ENST00000404895.2_Silent_p.I236I			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	247	Ig-like C2-type.				apoptosis|axon guidance	integral to membrane	receptor activity	p.I231I(3)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		CAGCCAACATCGTGGCTAAGA	0.532000													21	5					0	0	1	0	0
TLR5	7100	broad.mit.edu	37	1	223284112	223284112	+	Silent	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr1:223284112G>A	ENST00000540964.1	-	4	2723	c.2262C>T	c.(2260-2262)atC>atT	p.I754I	TLR5_ENST00000342210.6_Silent_p.I754I			O60602	TLR5_HUMAN	toll-like receptor 5	754	TIR.		Missing (in 10% of the population; abolishes flagellin signaling; associated with resistance to SLEB1).		cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway	integral to membrane|plasma membrane	interleukin-1 receptor binding|transmembrane receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(131;0.0851)		CAAGACAAACGATCTTTCTAC	0.468000													15	10					0	0	1	0	0
CDH9	1007	broad.mit.edu	37	5	26890604	26890604	+	Silent	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr5:26890604G>A	ENST00000231021.4	-	8	1495	c.1323C>T	c.(1321-1323)ttC>ttT	p.F441F		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	441	Cadherin 4.				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						CTTTCAAAGTGAAAATAGAAC	0.428000													37	59					0	0	1	0	0
DLG2	1740	broad.mit.edu	37	11	83344262	83344262	+	Silent	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr11:83344262G>A	ENST00000398309.2	-	14	2087	c.1617C>T	c.(1615-1617)ctC>ctT	p.L539L	DLG2_ENST00000418306.2_Silent_p.L436L|DLG2_ENST00000530800.1_Silent_p.L48L|DLG2_ENST00000376106.3_Silent_p.L21L|DLG2_ENST00000531015.1_Silent_p.L506L|DLG2_ENST00000543673.1_Silent_p.L644L|DLG2_ENST00000426717.2_Silent_p.L21L|DLG2_ENST00000524982.1_Silent_p.L539L|DLG2_ENST00000532653.1_Silent_p.L539L|DLG2_ENST00000376104.2_Silent_p.L644L|DLG2_ENST00000280241.8_Silent_p.L578L|DLG2_ENST00000398304.1_Silent_p.L21L|DLG2_ENST00000537455.1_Silent_p.L293L|DLG2_ENST00000404783.3_Silent_p.L21L|DLG2_ENST00000330014.6_Silent_p.L478L	NM_001364.3	NP_001355.2	Q15700	DLG2_HUMAN	discs, large homolog 2 (Drosophila)	539	SH3.					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)				ACCTGACGTAGAGGGAGCGTT	0.483000													17	105					0	0	1	0	0
BTBD11	121551	broad.mit.edu	37	12	108013926	108013926	+	Silent	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr12:108013926C>T	ENST00000280758.5	+	11	3144	c.2616C>T	c.(2614-2616)atC>atT	p.I872I	BTBD11_ENST00000420571.2_Silent_p.I753I|BTBD11_ENST00000357167.4_Silent_p.I409I|BTBD11_ENST00000490090.2_Silent_p.I872I	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	872						integral to membrane	DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						TGTTTGAGATCCTGAAAGCGA	0.512000													25	39					0	0	1	0	0
RNF128	79589	broad.mit.edu	37	X	106016203	106016203	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chrX:106016203C>T	ENST00000255499.2	+	2	795	c.545C>T	c.(544-546)tCt>tTt	p.S182F	RNF128_ENST00000324342.3_Missense_Mutation_p.S156F	NM_194463.1	NP_919445.1	Q8TEB7	RN128_HUMAN	ring finger protein 128, E3 ubiquitin protein ligase	182	PA.					endomembrane system|integral to membrane|perinuclear region of cytoplasm	zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)	11						ATTCTGCAATCTATTCAAAGA	0.358000													32	44					0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55540336	55540336	+	Silent	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr8:55540336C>T	ENST00000220676.1	+	4	4042	c.3894C>T	c.(3892-3894)ttC>ttT	p.F1298F		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1298					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			AGGCTTGTTTCCTAGGAGAGG	0.413000													93	55					0	0	1	0	0
ITGB4	3691	broad.mit.edu	37	17	73725444	73725444	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr17:73725444G>A	ENST00000200181.3	+	7	852	c.665G>A	c.(664-666)gGa>gAa	p.G222E	ITGB4_ENST00000450894.3_Missense_Mutation_p.G222E|ITGB4_ENST00000584558.1_3'UTR|ITGB4_ENST00000449880.2_Missense_Mutation_p.G222E|ITGB4_ENST00000339591.3_Missense_Mutation_p.G222E|ITGB4_ENST00000579662.1_Missense_Mutation_p.G222E	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	222	VWFA.				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			AAACTGCAGGGAGAGCGGATC	0.597000													21	35					0	0	1	0	0
CENPI	2491	broad.mit.edu	37	X	100364926	100364926	+	Missense_Mutation	SNP	G	G	C			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chrX:100364926G>C	ENST00000372927.1	+	5	807	c.530G>C	c.(529-531)cGt>cCt	p.R177P	CENPI_ENST00000218507.5_Missense_Mutation_p.R177P|CENPI_ENST00000423383.1_Missense_Mutation_p.R177P|CENPI_ENST00000372926.1_Missense_Mutation_p.R177P	NM_006733.2	NP_006724.2	Q92674	CENPI_HUMAN	centromere protein I	177					CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	cytosol|kinetochore|nucleoplasm	protein binding	p.R177H(1)		breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(19)|prostate(1)|skin(2)	30						TTCATTGATCGTAAGGAGCAA	0.338000													10	23					0	0	1	0	0
ACSL4	2182	broad.mit.edu	37	X	108911460	108911460	+	Silent	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chrX:108911460G>A	ENST00000340800.2	-	12	1812	c.1308C>T	c.(1306-1308)gtC>gtT	p.V436V	ACSL4_ENST00000348502.6_Silent_p.V395V|ACSL4_ENST00000469796.2_Silent_p.V436V	NM_022977.2	NP_075266.1	O60488	ACSL4_HUMAN	acyl-CoA synthetase long-chain family member 4	436					fatty acid metabolic process|learning or memory|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)	22					Icosapent(DB00159)|Troglitazone(DB00197)	GCATCATGCGGACATTCCCTC	0.473000													44	47					0	0	1	0	0
RTF1	23168	broad.mit.edu	37	15	41770814	41770814	+	Silent	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr15:41770814C>T	ENST00000389629.4	+	15	1821	c.1809C>T	c.(1807-1809)atC>atT	p.I603I		NM_015138.4	NP_055953.3	Q92541	RTF1_HUMAN	Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)	603					histone modification|regulation of transcription, DNA-dependent|transcription initiation, DNA-dependent	nucleoplasm	protein binding|single-stranded DNA binding	p.I478I(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	18		all_cancers(109;1.79e-19)|all_epithelial(112;8.18e-17)|Lung NSC(122;3.16e-11)|all_lung(180;8.14e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;1.15e-16)|GBM - Glioblastoma multiforme(113;1.81e-06)|BRCA - Breast invasive adenocarcinoma(123;0.119)		AGCCTACCATCGTTTCTAATG	0.398000													53	91					0	0	1	0	0
OR2Y1	134083	broad.mit.edu	37	5	180166600	180166600	+	Silent	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr5:180166600G>A	ENST00000307832.2	-	1	499	c.459C>T	c.(457-459)ttC>ttT	p.F153F		NM_001001657.1	NP_001001657.1	Q8NGV0	OR2Y1_HUMAN	olfactory receptor, family 2, subfamily Y, member 1	153					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	all_cancers(89;1.25e-05)|all_epithelial(37;4.36e-06)|Renal(175;0.000159)|Lung NSC(126;0.00317)|all_lung(126;0.0041)|Breast(19;0.114)	all_cancers(40;0.0834)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GAGAGTTCACGAAACCCGCAC	0.552000													15	20					0	0	1	0	0
JAKMIP2	9832	broad.mit.edu	37	5	147024497	147024497	+	Silent	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr5:147024497G>A	ENST00000265272.5	-	6	1466	c.999C>T	c.(997-999)ctC>ctT	p.L333L	JAKMIP2_ENST00000507386.1_Silent_p.L333L|JAKMIP2_ENST00000333010.6_Silent_p.L291L	NM_014790.3	NP_055605.2	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein 2	333						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)			TTCTCTTGGCGAGGCACTTGT	0.433000													44	77					0	0	1	0	0
MARS2	92935	broad.mit.edu	37	2	198570721	198570721	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr2:198570721G>A	ENST00000282276.6	+	1	635	c.592G>A	c.(592-594)Gag>Aag	p.E198K	AC011997.1_ENST00000409845.1_Intron	NM_138395.3	NP_612404.1	Q96GW9	SYMM_HUMAN	methionyl-tRNA synthetase 2, mitochondrial	198					methionyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|methionine-tRNA ligase activity			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	22					L-Methionine(DB00134)	TGTATCTCTCGAGAGCGGGCA	0.587000													37	38					0	0	1	0	0
TJP1	7082	broad.mit.edu	37	15	30053379	30053379	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr15:30053379G>A	ENST00000346128.6	-	8	1447	c.973C>T	c.(973-975)Cat>Tat	p.H325Y	TJP1_ENST00000356107.6_Missense_Mutation_p.H325Y|TJP1_ENST00000400011.2_Missense_Mutation_p.H329Y|TJP1_ENST00000495972.2_Missense_Mutation_p.H325Y|TJP1_ENST00000545208.2_Missense_Mutation_p.H325Y	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	325					cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		TGCCTGGAATGATCAGAAGGC	0.502000													17	39					0	0	1	0	0
TRBV6-1	28606	broad.mit.edu	37	7	142028353	142028353	+	RNA	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr7:142028353C>T	ENST00000390353.2	+	0	144																											CCCCAAAATTCCAGGTCCTGA	0.512000													7	127					0	0	1	0	0
SYP	6855	broad.mit.edu	37	X	49054237	49054237	+	Missense_Mutation	SNP	A	A	C			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chrX:49054237A>C	ENST00000263233.4	-	3	236	c.164T>G	c.(163-165)gTg>gGg	p.V55G	SYP_ENST00000479808.1_Missense_Mutation_p.V55G|SYP_ENST00000538567.1_Intron	NM_003179.2	NP_003170.1	P08247	SYPH_HUMAN	synaptophysin	55	MARVEL.				regulation of long-term neuronal synaptic plasticity|regulation of short-term neuronal synaptic plasticity|synaptic vesicle maturation|synaptic vesicle membrane organization	cell junction|integral to synaptic vesicle membrane|synaptosome	calcium ion binding|cholesterol binding|transporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)	15		all_lung(315;0.00016)				GGCACAATCCACGCTCAGCTG	0.597000													7	11					0	0	1	0	0
LILRA3	11026	broad.mit.edu	37	19	54803168	54803168	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr19:54803168G>A	ENST00000391745.1	-	8	876	c.560C>T	c.(559-561)tCc>tTc	p.S187F	LILRA3_ENST00000251390.3_Missense_Mutation_p.S170F|LILRA3_ENST00000391744.3_Intron					leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3											NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		ATGGGAATGGGAGTTCAGGCA	0.562000													56	77					0	0	1	0	0
MSI2	124540	broad.mit.edu	37	17	55478757	55478757	+	Silent	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr17:55478757G>A	ENST00000284073.2	+	6	539	c.330G>A	c.(328-330)aaG>aaA	p.K110K	MSI2_ENST00000442934.2_Silent_p.K49K|MSI2_ENST00000322684.3_Silent_p.K106K|MSI2_ENST00000416426.2_Silent_p.K88K|MSI2_ENST00000579180.1_Silent_p.K6K	NM_138962.2	NP_620412.1	Q96DH6	MSI2H_HUMAN	musashi RNA-binding protein 2	110	RRM 1.|RRM 2.					cytoplasm	nucleotide binding|RNA binding	p.K106K(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(1)|pancreas(1)|skin(1)	7	Breast(9;1.78e-08)			GBM - Glioblastoma multiforme(1;0.0025)		CAAGAACAAAGAAAATATTTG	0.448000			T	HOXA9	CML								38	40					0	0	1	0	0
ZFP2	80108	broad.mit.edu	37	5	178359120	178359120	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr5:178359120C>T	ENST00000361362.2	+	5	1336	c.806C>T	c.(805-807)cCc>cTc	p.P269L	ZFP2_ENST00000520301.1_Missense_Mutation_p.P269L|ZFP2_ENST00000523286.1_Missense_Mutation_p.P269L|ZFP2_ENST00000503510.2_Missense_Mutation_p.P269L	NM_030613.2	NP_085116.2	Q6ZN57	ZFP2_HUMAN	ZFP2 zinc finger protein	269					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	20	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)	all cancers(165;0.00655)|GBM - Glioblastoma multiforme(465;0.0302)|OV - Ovarian serous cystadenocarcinoma(192;0.0615)|Epithelial(171;0.111)		GGAGAAAAACCCTATGAGTGT	0.383000													27	48					0	0	1	0	0
CHST9	83539	broad.mit.edu	37	18	24496954	24496954	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr18:24496954G>A	ENST00000284224.8	-	6	878	c.601C>T	c.(601-603)Cat>Tat	p.H201Y	CHST9_ENST00000580774.1_3'UTR|AQP4-AS1_ENST00000582605.1_RNA|AQP4-AS1_ENST00000568797.1_RNA|CHST9_ENST00000581714.1_Missense_Mutation_p.H201Y|AQP4-AS1_ENST00000578701.1_RNA|AQP4-AS1_ENST00000579964.1_RNA	NM_031422.5	NP_113610.2	Q7L1S5	CHST9_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 9	201					carbohydrate biosynthetic process|glycosaminoglycan metabolic process|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	extracellular region|Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|skin(3)	28	all_lung(6;0.0145)|Ovarian(20;0.124)					GATACTGTATGAAAAAGATGT	0.393000													47	68					0	0	1	0	0
MTM1	4534	broad.mit.edu	37	X	149787595	149787595	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chrX:149787595C>T	ENST00000370396.2	+	6	481	c.427C>T	c.(427-429)Ccc>Tcc	p.P143S	MTM1_ENST00000542741.1_Missense_Mutation_p.P48S|MTM1_ENST00000413012.2_Missense_Mutation_p.P106S|MTM1_ENST00000306167.7_3'UTR|MTM1_ENST00000543350.1_Missense_Mutation_p.P28S	NM_000252.2	NP_000243.1	Q13496	MTM1_HUMAN	myotubularin 1	143					endosome to lysosome transport|intermediate filament organization|mitochondrion distribution|mitochondrion morphogenesis|phosphatidylinositol dephosphorylation|protein transport|regulation of vacuole organization	filopodium|late endosome|plasma membrane|ruffle	intermediate filament binding|phosphatidylinositol binding|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Acute lymphoblastic leukemia(192;6.56e-05)					ATACGCGTTTCCCCTGGCTCA	0.517000													34	47					0	0	1	0	0
OR4C46	119749	broad.mit.edu	37	11	51515396	51515396	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr11:51515396G>A	ENST00000328188.1	+	1	115	c.115G>A	c.(115-117)Gga>Aga	p.G39R		NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C, member 46	39					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						CACTGTGGTGGGATATGTGCT	0.443000													79	108					0	0	1	0	0
TMEM207	131920	broad.mit.edu	37	3	190158117	190158117	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr3:190158117G>A	ENST00000354905.2	-	4	286	c.220C>T	c.(220-222)Cag>Tag	p.Q74*		NM_207316.1	NP_997199.1	Q6UWW9	TM207_HUMAN	transmembrane protein 207	74						integral to membrane				endometrium(1)|large_intestine(2)|lung(4)	7	all_cancers(143;3.61e-10)|Ovarian(172;0.0991)		Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.0176)		AGCCAGCACTGGAGGCAGAGG	0.517000													21	20					0	0	1	0	0
MUSK	4593	broad.mit.edu	37	9	113547936	113547936	+	Silent	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr9:113547936G>A	ENST00000416899.2	+	11	1818	c.1692G>A	c.(1690-1692)agG>agA	p.R564R	MUSK_ENST00000374448.4_Silent_p.R572R|MUSK_ENST00000189978.5_Silent_p.R572R|MUSK_ENST00000374438.1_Silent_p.R88R			O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	572					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						AGTATCCAAGGAATAACATTG	0.443000													44	87					0	0	1	0	0
IGHG3	3502	broad.mit.edu	37	14	106236653	106236653	+	RNA	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr14:106236653G>A	ENST00000390551.2	-	0	411																											GCATGGGGGAGGTGTGTCACA	0.647000													88	86					0	0	1	0	0
ZNF71	58491	broad.mit.edu	37	19	57133861	57133861	+	Silent	SNP	C	C	T	rs145594416		TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr19:57133861C>T	ENST00000328070.6	+	3	1440	c.1206C>T	c.(1204-1206)atC>atT	p.I402I		NM_021216.4	NP_067039.1	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	402						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		TGCACCAGATCGTGCACACCG	0.642000													42	45					0	0	1	0	0
NDUFAF6	137682	broad.mit.edu	37	8	96047698	96047698	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr8:96047698C>T	ENST00000396113.1	+	9	1088	c.38C>T	c.(37-39)tCt>tTt	p.S13F	NDUFAF6_ENST00000286687.4_5'UTR|NDUFAF6_ENST00000396124.4_Missense_Mutation_p.S105F|NDUFAF6_ENST00000542894.1_Missense_Mutation_p.S53F|NDUFAF6_ENST00000396111.2_Missense_Mutation_p.S13F			Q330K2	CH038_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 6	105					biosynthetic process	mitochondrion	transferase activity										GACTCAGTCTCTGAGAAAACA	0.353000													19	14					0	0	1	0	0
FAM135B	51059	broad.mit.edu	37	8	139164533	139164533	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr8:139164533C>T	ENST00000395297.1	-	13	2355	c.2185G>A	c.(2185-2187)Gag>Aag	p.E729K		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	729										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)			TGTCCACCCTCTAGGGAGTTC	0.562000										HNSCC(54;0.14)			6	9					0	0	1	0	0
NAA11	84779	broad.mit.edu	37	4	80246563	80246563	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr4:80246563C>T	ENST00000286794.4	-	1	641	c.469G>A	c.(469-471)Gag>Aag	p.E157K	NAA11_ENST00000513733.1_5'UTR	NM_032693.2	NP_116082.1	Q9BSU3	NAA11_HUMAN	N(alpha)-acetyltransferase 11, NatA catalytic subunit	157						cytoplasm|nucleus	peptide alpha-N-acetyltransferase activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|skin(2)	23						CGTCTCAGCTCATCTGCCATC	0.507000													3	29					0	0	1	0	0
CHEK2P2	646096	broad.mit.edu	37	15	20496740	20496740	+	RNA	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr15:20496740C>T	ENST00000555186.1	+	0	793					NR_038836.1																						TGTCATCTTTCTTTTCTTTGA	0.393000													4	43					0	0	1	0	0
SESN3	143686	broad.mit.edu	37	11	94917562	94917562	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr11:94917562G>A	ENST00000416495.2	-	6	1144	c.959C>T	c.(958-960)gCc>gTc	p.A320V	RP11-712B9.2_ENST00000534891.1_RNA|SESN3_ENST00000278499.2_Intron|SESN3_ENST00000393234.1_Intron|RP11-712B9.2_ENST00000534864.1_RNA|SESN3_ENST00000536441.1_Intron			P58005	SESN3_HUMAN	sestrin 3	0					cell cycle arrest	nucleus				endometrium(5)|large_intestine(6)|lung(3)|skin(1)|stomach(1)	16		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.234)		CAACTAAAAGGCAAAAAAGTG	0.368000													21	28					0	0	1	0	0
ITGA8	8516	broad.mit.edu	37	10	15701046	15701046	+	Silent	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr10:15701046G>A	ENST00000378076.3	-	10	1253	c.900C>T	c.(898-900)atC>atT	p.I300I		NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN	integrin, alpha 8	300					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						TAGAGTTAATGATGGAAACCT	0.313000													13	22					0	0	1	0	0
PANX2	56666	broad.mit.edu	37	22	50615729	50615729	+	Silent	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr22:50615729C>T	ENST00000395842.2	+	2	588	c.588C>T	c.(586-588)atC>atT	p.I196I	PANX2_ENST00000159647.5_Silent_p.I196I	NM_052839.3	NP_443071.2	Q96RD6	PANX2_HUMAN	pannexin 2	196					protein hexamerization|synaptic transmission	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)	7		all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.105)		GCGAGATCATCGAGAACGCGG	0.657000													17	6					0	0	1	0	0
COL9A1	1297	broad.mit.edu	37	6	70966516	70966516	+	Silent	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr6:70966516C>T	ENST00000357250.6	-	21	1616	c.1458G>A	c.(1456-1458)cgG>cgA	p.R486R	COL9A1_ENST00000320755.7_Silent_p.R243R|COL9A1_ENST00000370499.4_Silent_p.R243R|COL9A1_ENST00000489611.1_5'UTR	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	486	Triple-helical region (COL2).				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						CATCTAAGCCCCGAGCACCCT	0.393000													16	20					0	0	1	0	0
OVGP1	5016	broad.mit.edu	37	1	111966211	111966211	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr1:111966211C>T	ENST00000369732.3	-	5	492	c.437G>A	c.(436-438)aGa>aAa	p.R146K	OVGP1_ENST00000540696.1_Missense_Mutation_p.R86K	NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN	oviductal glycoprotein 1, 120kDa	146					chitin catabolic process|female pregnancy|single fertilization	transport vesicle	cation binding|chitinase activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		GGGGCTGCCTCTTAGTCCAGG	0.403000													52	11					0	0	1	0	0
KIFC1	3833	broad.mit.edu	37	6	33373044	33373044	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr6:33373044T>C	ENST00000428849.2	+	7	1622	c.1172T>C	c.(1171-1173)aTt>aCt	p.I391T		NM_002263.3	NP_002254.2	Q9BW19	KIFC1_HUMAN	kinesin family member C1	391	Kinesin-motor.				blood coagulation|cell division|microtubule-based movement|mitotic sister chromatid segregation	early endosome|microtubule|microtubule associated complex|microtubule organizing center|nucleus|spindle	ATP binding|microtubule motor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	13						TTTGAAGAGATTGCCATGCTT	0.552000													86	13					0	0	1	0	0
SLC15A3	51296	broad.mit.edu	37	11	60707110	60707110	+	Splice_Site	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr11:60707110C>T	ENST00000227880.3	-	6	1510	c.1276_splice	c.e6-1	p.G426_splice		NM_016582.2	NP_057666.1	Q8IY34	S15A3_HUMAN	solute carrier family 15 (oligopeptide transporter), member 3	426					oligopeptide transport|protein transport	integral to membrane|lysosomal membrane	peptide:hydrogen symporter activity			central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)	17						CTCCAGGACTCCTGGTGGAGG	0.582000													15	3					0	0	1	0	0
SLC7A8	23428	broad.mit.edu	37	14	23634547	23634547	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr14:23634547G>A	ENST00000316902.7	-	3	1180	c.455C>T	c.(454-456)cCc>cTc	p.P152L	SLC7A8_ENST00000469263.1_Missense_Mutation_p.P152L	NM_012244.3	NP_036376.2	Q9UHI5	LAT2_HUMAN	solute carrier family 7 (amino acid transporter light chain, L system), member 8	152					blood coagulation|cellular amino acid metabolic process|leukocyte migration|metal ion homeostasis|response to toxin	basolateral plasma membrane|cytoplasm|integral to plasma membrane	neutral amino acid transmembrane transporter activity|organic cation transmembrane transporter activity|peptide antigen binding|protein binding|toxin transporter activity			autonomic_ganglia(1)|endometrium(6)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|skin(1)	24	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.00809)	L-Alanine(DB00160)|L-Glutamine(DB00130)|L-Phenylalanine(DB00120)	GAAGCAGGTGGGGAAGAGCGG	0.557000													5	1					0	0	1	0	0
CACNA2D3	55799	broad.mit.edu	37	3	55021772	55021772	+	Silent	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr3:55021772C>T	ENST00000474759.1	+	31	2730	c.2682C>T	c.(2680-2682)tcC>tcT	p.S894S	CACNA2D3_ENST00000288197.5_Silent_p.S894S|CACNA2D3_ENST00000415676.2_Silent_p.S894S|CACNA2D3_ENST00000478261.1_3'UTR|CACNA2D3_ENST00000490478.1_Silent_p.S800S	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	894						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		CAATGGGCTCCTTTAAAAGGT	0.403000													9	16					0	0	1	0	0
KIAA1549	57670	broad.mit.edu	37	7	138602793	138602793	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr7:138602793G>A	ENST00000440172.1	-	2	1627	c.1579C>T	c.(1579-1581)Cgc>Tgc	p.R527C	KIAA1549_ENST00000242365.4_Missense_Mutation_p.R477C|KIAA1549_ENST00000422774.1_Missense_Mutation_p.R527C	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN	KIAA1549	527	Ser-rich.					integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						ACAGAGAGGCGGCCGTGGGCA	0.537000			O	BRAF	pilocytic astrocytoma								10	6					0	0	1	0	0
ADAMTS10	81794	broad.mit.edu	37	19	8656738	8656738	+	Missense_Mutation	SNP	G	G	A	rs147694025	byFrequency	TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr19:8656738G>A	ENST00000595838.1	-	2	248	c.215C>T	c.(214-216)tCg>tTg	p.S72L	ADAMTS10_ENST00000597188.1_Silent_p.I581I|ADAMTS10_ENST00000270328.4_Silent_p.I581I			Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	0					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						ACTTGCCCCCGATGGTTGGCC	0.652000													32	39					0	0	1	0	0
NAPRT1	93100	broad.mit.edu	37	8	144657657	144657657	+	Silent	SNP	G	G	C	rs149282363		TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr8:144657657G>C	ENST00000449291.2	-	10	1521	c.1227C>G	c.(1225-1227)acC>acG	p.T409T	NAPRT1_ENST00000276844.7_Silent_p.T409T|NAPRT1_ENST00000435154.3_Silent_p.T409T|RP11-661A12.9_ENST00000531730.1_RNA|NAPRT1_ENST00000426292.3_Silent_p.T409T|NAPRT1_ENST00000460623.1_5'UTR			Q6XQN6	PNCB_HUMAN	nicotinate phosphoribosyltransferase domain containing 1	409					nicotinamide metabolic process|nicotinate nucleotide salvage|response to oxidative stress|water-soluble vitamin metabolic process	cytosol|Golgi apparatus|nucleus	nicotinate phosphoribosyltransferase activity|nicotinate-nucleotide diphosphorylase (carboxylating) activity			endometrium(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	6	all_cancers(97;6.49e-11)|all_epithelial(106;4.73e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.014)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.146)			CGGGGTCCTCGGTCAGCTTCA	0.657000													14	8					0	0	1	0	0
NPAP1	23742	broad.mit.edu	37	15	24921625	24921625	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr15:24921625G>A	ENST00000329468.2	+	1	1085	c.611G>A	c.(610-612)aGc>aAc	p.S204N		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		TTCAGATGCAGCCCTGGGCCT	0.602000													19	22					0	0	1	0	0
CYLC2	1539	broad.mit.edu	37	9	105767081	105767081	+	Silent	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr9:105767081G>A	ENST00000374798.3	+	4	355	c.285G>A	c.(283-285)agG>agA	p.R95R	CYLC2_ENST00000487798.1_Silent_p.R95R	NM_001340.3	NP_001331.1	Q14093	CYLC2_HUMAN	cylicin, basic protein of sperm head cytoskeleton 2	95	31 X 3 AA repeats of K-K-X.				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41		all_hematologic(171;0.125)				TAGCTGCCAGGAGGCAGCCTC	0.383000													18	25					0	0	1	0	0
PPP1R9A	55607	broad.mit.edu	37	7	94540698	94540698	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr7:94540698G>A	ENST00000289495.5	+	1	1489	c.1273G>A	c.(1273-1275)Gaa>Aaa	p.E425K	PPP1R9A_ENST00000433881.1_Missense_Mutation_p.E425K|PPP1R9A_ENST00000340694.4_Missense_Mutation_p.E425K|PPP1R9A_ENST00000424654.1_Missense_Mutation_p.E425K|PPP1R9A_ENST00000433360.1_Missense_Mutation_p.E425K|PPP1R9A_ENST00000456331.2_Missense_Mutation_p.E425K	NM_001166161.1	NP_001159633.1	Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	425	Interacts with protein phosphatase 1 (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)			GGATGAGGAGGAAGATAGTGA	0.428000										HNSCC(28;0.073)			16	20					0	0	1	0	0
RNF43	54894	broad.mit.edu	37	17	56448328	56448328	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr17:56448328C>T	ENST00000584437.1	-	2	2274	c.319G>A	c.(319-321)Gtc>Atc	p.V107I	RNF43_ENST00000577716.1_Missense_Mutation_p.V107I|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000583753.1_Intron|RNF43_ENST00000577625.1_5'UTR|RNF43_ENST00000407977.2_Missense_Mutation_p.V107I|RNF43_ENST00000581868.1_5'UTR|RNF43_ENST00000500597.2_Intron			Q68DV7	RNF43_HUMAN	ring finger protein 43	107						endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding			NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TCCAGCTTGACGATGCTGATG	0.597000													4	56					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13781044	13781044	+	Nonsense_Mutation	SNP	G	G	A	rs147688221	byFrequency	TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr5:13781044G>A	ENST00000265104.4	-	53	8949	c.8845C>T	c.(8845-8847)Cag>Tag	p.Q2949*		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2949	AAA 4 (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)					GCATTTCCCTGAGGAGTACGA	0.428000									Kartagener syndrome				24	34					0	0	1	0	0
CHEK2P2	646096	broad.mit.edu	37	15	20496688	20496688	+	RNA	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr15:20496688C>T	ENST00000555186.1	+	0	741					NR_038836.1																						GTGTTGTGAACTCCATGGTTT	0.423000													4	43					0	0	1	0	0
LIN28B	389421	broad.mit.edu	37	6	105526370	105526370	+	Silent	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr6:105526370G>A	ENST00000345080.4	+	4	668	c.465G>A	c.(463-465)caG>caA	p.Q155Q		NM_001004317.3	NP_001004317.1	Q6ZN17	LN28B_HUMAN	lin-28 homolog B (C. elegans)	155					miRNA catabolic process|pre-miRNA processing|regulation of transcription, DNA-dependent|RNA 3'-end processing	cytoplasm|nucleus	DNA binding|protein binding|RNA binding|zinc ion binding			large_intestine(1)|lung(10)|ovary(1)	12		all_cancers(87;0.00346)|Acute lymphoblastic leukemia(125;2.26e-08)|all_hematologic(75;2.79e-06)|all_epithelial(87;0.204)				ATTACTGTCAGAGCATCATGC	0.478000													37	41					0	0	1	0	0
PCDHGA9	56107	broad.mit.edu	37	5	140784699	140784699	+	Missense_Mutation	SNP	C	C	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr5:140784699C>A	ENST00000573521.1	+	1	2180	c.2180C>A	c.(2179-2181)gCt>gAt	p.A727D	PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA8_ENST00000398604.2_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGCTGCGGGCTACCAGTGAT	0.582000													48	44					3.05275e-18	3.07348e-18	1	1	0
SCN3A	6328	broad.mit.edu	37	2	166027021	166027021	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr2:166027021C>T	ENST00000360093.3	-	4	793	c.302G>A	c.(301-303)cGa>cAa	p.R101Q	SCN3A_ENST00000409101.3_Missense_Mutation_p.R101Q|SCN3A_ENST00000283254.7_Missense_Mutation_p.R101Q	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	101						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.R101L(2)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	GGCACTGAATCGGAAAATTGC	0.308000													16	25					0	0	1	0	0
CC2D1A	54862	broad.mit.edu	37	19	14034157	14034157	+	Silent	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr19:14034157C>T	ENST00000318003.7	+	15	1894	c.1653C>T	c.(1651-1653)gcC>gcT	p.A551A	CC2D1A_ENST00000589606.1_Silent_p.A551A	NM_017721.4	NP_060191.3	Q6P1N0	C2D1A_HUMAN	coiled-coil and C2 domain containing 1A	551					positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|plasma membrane	DNA binding|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	27			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)			TGCCGCCTGCCCCTGTCAACA	0.647000													38	44					0	0	1	0	0
VIM	7431	broad.mit.edu	37	10	17276785	17276785	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr10:17276785C>T	ENST00000544301.1	+	6	1389	c.976C>T	c.(976-978)Ctc>Ttc	p.L326F	VIM_ENST00000224237.5_Missense_Mutation_p.L326F|RP11-124N14.3_ENST00000456355.1_RNA	NM_003380.3	NP_003371.2	P08670	VIME_HUMAN	vimentin	326	Coil 2.|Rod.				cellular component disassembly involved in apoptosis|cellular component movement|interspecies interaction between organisms|muscle filament sliding	cytosol|intermediate filament	protein C-terminus binding|structural constituent of cytoskeleton			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GGTGCAGTCCCTCACCTGTGA	0.532000													37	49					0	0	1	0	0
PDIA5	10954	broad.mit.edu	37	3	122808133	122808133	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr3:122808133C>T	ENST00000316218.7	+	2	256	c.161C>T	c.(160-162)tCc>tTc	p.S54F		NM_006810.3	NP_006801.1	Q14554	PDIA5_HUMAN	protein disulfide isomerase family A, member 5	54					cell redox homeostasis|glycerol ether metabolic process|protein folding|response to stress	endoplasmic reticulum lumen	electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	21				GBM - Glioblastoma multiforme(114;0.0427)		GTGCTTTACTCCAAATCTGGT	0.512000													44	72					0	0	1	0	0
MAP3K19	80122	broad.mit.edu	37	2	135756509	135756509	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr2:135756509C>T	ENST00000375845.3	-	5	403	c.373G>A	c.(373-375)Gaa>Aaa	p.E125K	MAP3K19_ENST00000375844.3_Missense_Mutation_p.E125K|MAP3K19_ENST00000392915.1_Missense_Mutation_p.E142K|MAP3K19_ENST00000392917.3_Missense_Mutation_p.E125K|MAP3K19_ENST00000392918.3_Missense_Mutation_p.E125K|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000358371.4_Intron	NM_025052.3	NP_079328.3			mitogen-activated protein kinase kinase kinase 19																		GTTTCTATTTCATTTGGATGA	0.443000													34	56					0	0	1	0	0
ZPLD1	131368	broad.mit.edu	37	3	102187883	102187883	+	Silent	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr3:102187883C>T	ENST00000306176.1	+	8	985	c.885C>T	c.(883-885)ttC>ttT	p.F295F	ZPLD1_ENST00000491959.1_Silent_p.F279F|ZPLD1_ENST00000466937.1_Silent_p.F279F	NM_175056.1	NP_778226.1	Q8TCW7	ZPLD1_HUMAN	zona pellucida-like domain containing 1	279	ZP.					integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						TTGAAGTGTTCCGATTTGTGA	0.483000													36	60					0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41455851	41455851	+	Silent	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr21:41455851C>T	ENST00000400454.1	-	24	4692	c.4215G>A	c.(4213-4215)ggG>ggA	p.G1405G		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1405	Fibronectin type-III 5.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TAGAGCTGCCCCCGTTGTCTC	0.468000													18	21					0	0	1	0	0
CYSLTR1	10800	broad.mit.edu	37	X	77528539	77528539	+	Silent	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chrX:77528539G>A	ENST00000373304.3	-	3	997	c.705C>T	c.(703-705)atC>atT	p.I235I		NM_006639.2	NP_006630.1	Q9Y271	CLTR1_HUMAN	cysteinyl leukotriene receptor 1	235					elevation of cytosolic calcium ion concentration|respiratory gaseous exchange	integral to plasma membrane|membrane fraction	leukotriene receptor activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14					Amlexanox(DB01025)|Cinalukast(DB00587)|Montelukast(DB00471)|Nedocromil(DB00716)|Pranlukast(DB01411)|Zafirlukast(DB00549)	TCACGACCATGATCATTCCTA	0.318000													26	45					0	0	1	0	0
NINL	22981	broad.mit.edu	37	20	25456957	25456957	+	Silent	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr20:25456957G>A	ENST00000278886.6	-	17	3043	c.2970C>T	c.(2968-2970)acC>acT	p.T990T	NINL_ENST00000422516.1_Intron	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	990					G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						CCTGCTCCTGGGTGCCCCTGC	0.682000													22	28					0	0	1	0	0
XIAP	331	broad.mit.edu	37	X	123034483	123034483	+	Silent	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chrX:123034483C>T	ENST00000371199.3	+	6	1539	c.1240C>T	c.(1240-1242)Cta>Tta	p.L414L	XIAP_ENST00000355640.3_Silent_p.L414L|XIAP_ENST00000468691.1_3'UTR|XIAP_ENST00000434753.3_Silent_p.L414L	NM_001167.3	NP_001158.2	P98170	XIAP_HUMAN	X-linked inhibitor of apoptosis	414					anti-apoptosis|apoptosis|induction of apoptosis by intracellular signals|response to DNA damage stimulus	cytosol	caspase inhibitor activity|ligase activity|protein binding|zinc ion binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)	25						GGTTGCAGATCTAGTGAATGC	0.378000									X-linked Lymphoproliferative syndrome				42	69					0	0	1	0	0
C1orf168	199920	broad.mit.edu	37	1	57192176	57192176	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr1:57192176G>A	ENST00000343433.6	-	16	1954	c.1874C>T	c.(1873-1875)tCa>tTa	p.S625L		NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN	chromosome 1 open reading frame 168	625										NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						CCACCTTTCTGATTCTTCAGC	0.368000													57	8					0	0	1	0	0
ACKR4	51554	broad.mit.edu	37	3	132319283	132319283	+	Silent	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr3:132319283G>A	ENST00000249887.2	+	2	138	c.42G>A	c.(40-42)gaG>gaA	p.E14E	ACAD11_ENST00000545291.1_Intron|ACAD11_ENST00000264990.6_Intron|ACAD11_ENST00000355458.3_Intron	NM_016557.2|NM_178445.2	NP_057641.1|NP_848540.1			atypical chemokine receptor 4																		ATTATTATGAGGAAAATGAAA	0.348000													11	14					0	0	1	0	0
GUCA1C	9626	broad.mit.edu	37	3	108634990	108634990	+	Silent	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr3:108634990G>A	ENST00000261047.3	-	3	558	c.426C>T	c.(424-426)atC>atT	p.I142I	GUCA1C_ENST00000393963.3_Silent_p.I142I|GUCA1C_ENST00000471108.1_Silent_p.I142I	NM_005459.3	NP_005450.3	O95843	GUC1C_HUMAN	guanylate cyclase activator 1C	142	EF-hand 4.				signal transduction|visual perception		calcium ion binding|calcium sensitive guanylate cyclase activator activity			endometrium(2)|large_intestine(1)|liver(1)|lung(8)|pancreas(1)|skin(1)	14						TGTTTATATCGATCTTATGGA	0.418000													41	66					0	0	1	0	0
TBP	6908	broad.mit.edu	37	6	170871070	170871070	+	Silent	SNP	G	G	A	rs142508797	byFrequency	TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr6:170871070G>A	ENST00000392092.2	+	3	525	c.246G>A	c.(244-246)caG>caA	p.Q82Q	TBP_ENST00000540980.1_Silent_p.Q62Q|TBP_ENST00000230354.6_Silent_p.Q82Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	82	Poly-Gln.				cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		agcagcagcagcagcagcagc	0.587000													4	49					0	0	1	0	0
CPS1	1373	broad.mit.edu	37	2	211512710	211512710	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr2:211512710C>T	ENST00000233072.5	+	26	3461	c.3265C>T	c.(3265-3267)Cgc>Tgc	p.R1089C	CPS1_ENST00000430249.2_Missense_Mutation_p.R1095C|CPS1_ENST00000451903.2_Missense_Mutation_p.R638C	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	1089					carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		GGCTGAGGATCGCTCCATCTT	0.488000													39	51					0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75037176	75037176	+	Silent	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr1:75037176C>T	ENST00000326665.5	-	14	4436	c.4218G>A	c.(4216-4218)gaG>gaA	p.E1406E	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	1406	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						GTGCTAATTCCTCTACCACCA	0.537000													99	18					0	0	1	0	0
NLRC5	84166	broad.mit.edu	37	16	57113043	57113043	+	Silent	SNP	C	C	T			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr16:57113043C>T	ENST00000262510.6	+	44	5388	c.5163C>T	c.(5161-5163)atC>atT	p.I1721I	NLRC5_ENST00000436936.1_3'UTR|NLRC5_ENST00000308149.7_Silent_p.I1692I|NLRC5_ENST00000539144.1_Silent_p.I1692I	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	1721					defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				TGGAAGAGATCAGGTAAGTAG	0.647000													35	12					0	0	1	0	0
TSC2	7249	broad.mit.edu	37	16	2125865	2125865	+	Missense_Mutation	SNP	A	A	C			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr16:2125865A>C	ENST00000219476.3	+	23	3241	c.2611A>C	c.(2611-2613)Atc>Ctc	p.I871L	TSC2_ENST00000568454.1_Missense_Mutation_p.I882L|TSC2_ENST00000382538.6_Missense_Mutation_p.I822L|TSC2_ENST00000401874.2_Missense_Mutation_p.I871L|TSC2_ENST00000439673.2_Missense_Mutation_p.I834L|TSC2_ENST00000353929.4_Missense_Mutation_p.I871L|TSC2_ENST00000350773.4_Missense_Mutation_p.I871L	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	871					cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				TGTGTTCGCCATCTCCCTGCC	0.677000			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis				20	37					0	0	1	0	0
CRTAC1	55118	broad.mit.edu	37	10	99683141	99683141	+	Silent	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr10:99683141G>A	ENST00000370597.3	-	4	793	c.438C>T	c.(436-438)acC>acT	p.T146T	CRTAC1_ENST00000370591.2_Silent_p.T146T|CRTAC1_ENST00000298819.4_Silent_p.T146T	NM_018058.6	NP_060528.3	Q9NQ79	CRAC1_HUMAN	cartilage acidic protein 1	146						proteinaceous extracellular matrix	calcium ion binding			autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35		Colorectal(252;0.24)		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)		ACAACTTGTCGGTGTACGTGG	0.577000													36	34					0	0	1	0	0
EZH2	2146	broad.mit.edu	37	7	148524301	148524301	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr7:148524301G>A	ENST00000320356.2	-	7	804	c.683C>T	c.(682-684)tCc>tTc	p.S228F	EZH2_ENST00000478654.1_Missense_Mutation_p.S219F|EZH2_ENST00000536783.1_Missense_Mutation_p.S119F|EZH2_ENST00000483967.1_Missense_Mutation_p.S219F|EZH2_ENST00000476773.1_Missense_Mutation_p.S219F|EZH2_ENST00000460911.1_Missense_Mutation_p.S228F|EZH2_ENST00000541220.1_Missense_Mutation_p.S219F|EZH2_ENST00000350995.2_Missense_Mutation_p.S189F	NM_001203247.1|NM_001203248.1|NM_004456.4	NP_001190176.1|NP_001190177.1|NP_004447.2	Q15910	EZH2_HUMAN	enhancer of zeste homolog 2 (Drosophila)	228	Interaction with DNMT1, DNMT3A and DNMT3B.				negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|histone-lysine N-methyltransferase activity|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3)	359	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00239)			AAACATTGAGGAAATGGCTTC	0.373000			Mis		DLBCL								67	84					0	0	1	0	0
SERINC2	347735	broad.mit.edu	37	1	31897646	31897648	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr1:31897646_31897648delCTT	ENST00000373710.1	+	4	618_620	c.345_347delCTT	c.(343-348)gcc>gc	p.AF115del	SERINC2_ENST00000536859.1_In_Frame_Del_p.AF110del|SERINC2_ENST00000536384.1_In_Frame_Del_p.AF110del|SERINC2_ENST00000491976.1_3'UTR|SERINC2_ENST00000373709.3_In_Frame_Del_p.AF106del	NM_001199038.1	NP_001185967.1	Q96SA4	SERC2_HUMAN	serine incorporator 2	106						integral to membrane				cervix(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	12		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0629)|Breast(348;0.0707)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0541)|READ - Rectum adenocarcinoma(331;0.151)		CCACGGCGGCCTTCTTCTTCTTT	0.660													8	7	---	---	---	---					
USP1	7398	broad.mit.edu	37	1	62916296	62916298	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr1:62916296_62916298delCTT	ENST00000339950.4	+	9	2817_2819	c.2002_2004delCTT	c.(2002-2004)del	p.L669del	USP1_ENST00000371146.1_In_Frame_Del_p.L669del	NM_003368.4	NP_003359.3	O94782	UBP1_HUMAN	ubiquitin specific peptidase 1	669					DNA repair|monoubiquitinated protein deubiquitination|regulation of DNA repair|response to UV|ubiquitin-dependent protein catabolic process	nucleoplasm	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	19		all_neural(321;0.0281)		BRCA - Breast invasive adenocarcinoma(111;8.01e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00245)|OV - Ovarian serous cystadenocarcinoma(397;0.0535)		AGCTATTGGACTTCTTGGAGGAC	0.355													81	14	---	---	---	---					
ANKRD36B	57730	broad.mit.edu	37	2	98206256	98206258	+	RNA	DEL	CAA	CAA	-			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr2:98206256_98206258delCAA	ENST00000443455.1	-	0	69_71							Q8N2N9	AN36B_HUMAN	ankyrin repeat domain 36B																		CTCCGAAGAGCAACAACAGGCAA	0.611													5	6	---	---	---	---					
PLG	5340	broad.mit.edu	37	6	161139418	161139419	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr6:161139418_161139419delCA	ENST00000308192.9	+	8	943_944	c.880_881delCA	c.(880-882)cfs	p.H294fs		NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	294	Kringle 3.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	CGTGTCCGGGCACACCTGTCAG	0.540													40	67	---	---	---	---					
BHLHA15	168620	broad.mit.edu	37	7	97842113	97842113	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr7:97842113delG	ENST00000314018.2	+	1	548	c.492delG	c.(490-492)ttfs	p.L164fs		NM_177455.3	NP_803238.1	Q7RTS1	BHA15_HUMAN	basic helix-loop-helix family, member a15	164					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding										GGGGTGCGTTGGGGGCCACGG	0.701													2	4	---	---	---	---					
AHCYL2	23382	broad.mit.edu	37	7	128865042	128865042	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr7:128865042delC	ENST00000325006.3	+	1	179	c.125delC	c.(124-126)gcfs	p.A42fs	AHCYL2_ENST00000446544.2_Frame_Shift_Del_p.A42fs	NM_001130720.2|NM_015328.3	NP_001124192.1|NP_056143.1	Q96HN2	SAHH3_HUMAN	adenosylhomocysteinase-like 2	42					one-carbon metabolic process		adenosylhomocysteinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	22						GGCGCCATGGCCCCCCCGGCG	0.786													2	4	---	---	---	---					
GSTO1	9446	broad.mit.edu	37	10	106019544	106019546	+	In_Frame_Del	DEL	GTT	GTT	-			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr10:106019544_106019546delGTT	ENST00000539281.1	+	3	626_628	c.270_272delGTT	c.(268-273)gag>ga	p.EL90del	GSTO1_ENST00000369710.4_In_Frame_Del_p.EL118del|GSTO1_ENST00000493946.1_3'UTR|GSTO1_ENST00000369713.5_In_Frame_Del_p.EL118del	NM_001191003.1	NP_001177932.1	P78417	GSTO1_HUMAN	glutathione S-transferase omega 1	118	GST N-terminal.				xenobiotic metabolic process	cytosol	glutathione transferase activity|monodehydroascorbate reductase (NADH) activity			large_intestine(1)|lung(1)|stomach(1)	3		Colorectal(252;0.102)|Breast(234;0.122)		Epithelial(162;8.07e-10)|all cancers(201;2.72e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0147)	Glutathione(DB00143)	TGATCTTAGAGTTGTTTTCTAAG	0.424													27	72	---	---	---	---					
CTSZ	1522	broad.mit.edu	37	20	57570805	57570806	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-EB-A41B-01A-11D-A24R-08	TCGA-EB-A41B-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25f1a2ca-1111-4dc2-b1c8-7301c576851d	0adba70a-0cfe-47e6-a9a3-92978578a7df	g.chr20:57570805_57570806delCT	ENST00000217131.5	-	6	928_929	c.810_811delAG	c.(808-813)aggcfs	p.RG270fs		NM_001336.3	NP_001327.2	Q9UBR2	CATZ_HUMAN	cathepsin Z	270					proteolysis	endoplasmic reticulum|extracellular space|lysosome	cysteine-type endopeptidase activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)	10	all_lung(29;0.00711)		Colorectal(105;0.109)			CTCAGCCAGCCTCTCTCGCCCT	0.619													26	54	---	---	---	---