Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
MAP7	9053	broad.mit.edu	37	6	136683601	136683601	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr6:136683601C>T	uc011edg.2	-	10	1852	c.1603G>A	c.(1603-1605)Gaa>Aaa	p.E535K	MAP7_uc011edf.2_Missense_Mutation_p.E490K|MAP7_uc010kgu.3_Missense_Mutation_p.E527K|MAP7_uc011edh.2_Missense_Mutation_p.E490K|MAP7_uc010kgv.3_Missense_Mutation_p.E527K|MAP7_uc010kgs.3_Missense_Mutation_p.E359K|MAP7_uc011edi.2_Missense_Mutation_p.E359K|MAP7_uc010kgq.2_Missense_Mutation_p.E411K|MAP7_uc003qgz.3_Missense_Mutation_p.E505K|MAP7_uc003qha.2_Missense_Mutation_p.E468K	NM_001198609	NP_001185538	Q14244	MAP7_HUMAN	Homo sapiens microtubule-associated protein 7 (MAP7), transcript variant 3, mRNA.	505					establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress	basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm	receptor binding|structural molecule activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)		TCAAGCTCTTCCTGCTCCCTC	0.532000														11			63		0	0	0.014410	0	0
NRG3	10718	broad.mit.edu	37	10	84118499	84118499	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr10:84118499G>A	uc021pvc.1	+	1	855	c.828G>A	c.(826-828)acG>acA	p.T276T	NRG3_uc010qlz.1_Silent_p.T276T|NRG3_uc021pvb.1_Non-coding_Transcript|NRG3_uc001kco.2_Silent_p.T276T|NRG3_uc001kcp.2_Silent_p.T55T|NRG3_uc001kcq.2_5'UTR|NRG3_uc021pvd.1_Silent_p.T55T|NRG3_uc021pve.1_Silent_p.T80T|NRG3_uc021pvf.1_5'UTR|NRG3_uc021pvg.1_Silent_p.T80T|NRG3_uc021pvh.1_5'UTR|NRG3_uc021pvi.1_Silent_p.T106T|NRG3_uc021pvk.1_5'UTR	NM_001010848	NP_001010848	P56975	NRG3_HUMAN	Homo sapiens neuregulin 3 (NRG3), transcript variant 1, mRNA.	276	Ser/Thr-rich.				regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity	p.H275Y(1)|p.T276R(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		TGACAGATACGACGACATATT	0.517000														35			41		0	0	0.013114	0	0
DONSON	29980	broad.mit.edu	37	21	35275893	35275893	+	Nonsense_Mutation	SNP	A	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr21:35275893A>T	uc002ytl.3	-	6	670	c.579T>A	c.(577-579)taT>taA	p.Y193*	DONSON_uc002ysn.1_Intron	NM_001697	NP_001688	Q9NYP3	DONS_HUMAN	Homo sapiens ATP synthase, H+ transporting, mitochondrial F1 complex, O subunit (ATP5O), nuclear gene encoding mitochondrial protein, mRNA.	0					multicellular organismal development	nucleus				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|ovary(1)	11						ACATGTCAACATATTTCTCGC	0.423000														29			39		0	0	0.010771	0	0
LAMA2	3908	broad.mit.edu	37	6	129766881	129766881	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr6:129766881C>T	uc021zfb.1	+	44	6449	c.6344C>T	c.(6343-6345)cCc>cTc	p.P2115L	LAMA2_uc003qbn.3_Missense_Mutation_p.P2113L|LAMA2_uc003qbo.3_Missense_Mutation_p.P2113L	NM_000426	NP_000417	P24043	LAMA2_HUMAN	Homo sapiens laminin, alpha 2 (LAMA2), transcript variant 1, mRNA.	2115	Domain II and I.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		AAACTCAAACCCATCAAGGAA	0.368000														4			21		0	0	0.010504	0	0
IQCJ-SCHIP1	100505385	broad.mit.edu	37	3	159609905	159609905	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:159609905C>T	uc003fcq.2	+	9	1747	c.1566C>T	c.(1564-1566)gtC>gtT	p.V522V	IQCJ-SCHIP1_uc003fcr.2_Silent_p.V495V|IQCJ-SCHIP1_uc003fcs.2_Silent_p.V446V|IQCJ-SCHIP1_uc003fct.2_Silent_p.V433V|IQCJ-SCHIP1_uc021xgm.1_Silent_p.V214V|IQCJ-SCHIP1_uc010hvz.1_Silent_p.V406V|IQCJ-SCHIP1_uc003fcu.2_Silent_p.V203V	NM_001197113	NP_001184042	Q9P0W5	SCHI1_HUMAN	Homo sapiens IQCJ-SCHIP1 readthrough (IQCJ-SCHIP1), transcript variant 1, mRNA.	446						cytoplasm	identical protein binding|protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(7)	12						AAGAGTTGGTCCAGCTGCTTC	0.448000														31			28		0	0	0.008361	0	0
KEL	3792	broad.mit.edu	37	7	142640915	142640915	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:142640915C>T	uc003wcb.3	-	13	1757	c.1547G>A	c.(1546-1548)cGa>cAa	p.R516Q		NM_000420	NP_000411	P23276	KELL_HUMAN	Homo sapiens Kell blood group, metallo-endopeptidase (KEL), mRNA.	516					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					AATTCTAGCTCGGAGGGACCG	0.557000														38			14		0	0	0.004007	0	0
GAGE10	643832	broad.mit.edu	37	X	49161358	49161358	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:49161358C>T	uc010nir.1	+	1	136	c.20C>T	c.(19-21)tCg>tTg	p.S7L		NM_001098413	NP_001091883	A6NGK3	GAG10_HUMAN	Homo sapiens G antigen 10 (GAGE10), mRNA.	7										breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)	4	Ovarian(276;0.236)					CGAGGAAGATCGACCTATCGG	0.453000														224			161		0	0	0.014410	0	0
ADAM18	8749	broad.mit.edu	37	8	39496010	39496010	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr8:39496010G>A	uc003xni.3	+	9	909	c.854G>A	c.(853-855)gGa>gAa	p.G285E	ADAM18_uc010lww.3_Non-coding_Transcript|ADAM18_uc010lwx.3_Missense_Mutation_p.G261E	NM_014237	NP_055052	Q9Y3Q7	ADA18_HUMAN	Homo sapiens ADAM metallopeptidase domain 18 (ADAM18), transcript variant 1, mRNA.	285	Peptidase M12B.				cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding	p.V284G(1)		NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			AAATATGTGGGAGCAACATTT	0.289000														15			13		0	0	0.003163	0	0
PROKR1	10887	broad.mit.edu	37	2	68882234	68882234	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:68882234C>T	uc010yqj.2	+	1	868	c.708C>T	c.(706-708)atC>atT	p.I236I	PROKR1_uc002ses.3_Non-coding_Transcript	NM_138964	NP_620414	Q8TCW9	PKR1_HUMAN	Homo sapiens prokineticin receptor 1 (PROKR1), mRNA.	236						integral to membrane|plasma membrane	neuropeptide Y receptor activity			endometrium(3)|kidney(2)|large_intestine(14)|lung(9)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						TCCTCTTTATCTTTGGCATAG	0.552000														45			45		0	0	0.014410	0	0
ANO5	203859	broad.mit.edu	37	11	22257816	22257816	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:22257816C>T	uc001mqi.2	+	7	1073	c.756C>T	c.(754-756)ctC>ctT	p.L252L	ANO5_uc001mqj.2_Silent_p.L251L	NM_213599	NP_998764	Q75V66	ANO5_HUMAN	Homo sapiens anoctamin 5 (ANO5), transcript variant 1, mRNA.	252						chloride channel complex|endoplasmic reticulum membrane	chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CCTATCCACTCCATGATGTAT	0.383000														22			16		0	0	0.004990	0	0
ELAVL3	1995	broad.mit.edu	37	19	11576999	11576999	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:11576999C>T	uc002mry.1	-	2	701	c.321G>A	c.(319-321)acG>acA	p.T107T	ELAVL3_uc002mrx.1_Silent_p.T107T	NM_001420	NP_001411	Q14576	ELAV3_HUMAN	Homo sapiens ELAV (embryonic lethal, abnormal vision, Drosophila)-like 3 (Hu antigen C) (ELAVL3), transcript variant 1, mRNA.	107	RRM 1.				cell differentiation|nervous system development		AU-rich element binding|nucleotide binding			breast(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15						TGATGGTCTTCGTCTGTAATT	0.572000														22			22		0	0	0.014323	0	0
MITF	4286	broad.mit.edu	37	3	69990452	69990452	+	Missense_Mutation	SNP	G	C	C			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:69990452G>C	uc003dnz.3	+	4	895	c.732G>C	c.(730-732)ttG>ttC	p.L244F	MITF_uc011bgb.2_Missense_Mutation_p.L192F|MITF_uc003doa.3_Missense_Mutation_p.L243F|MITF_uc003dob.3_Missense_Mutation_p.L228F|MITF_uc021xam.1_Missense_Mutation_p.L81F|MITF_uc003doe.3_Missense_Mutation_p.L137F|MITF_uc003dof.3_Missense_Mutation_p.L137F	NM_198159	NP_001171896	O75030	MITF_HUMAN	Homo sapiens microphthalmia-associated transcription factor (MITF), transcript variant 1, mRNA.	244	Transactivation.				melanocyte differentiation|multicellular organismal development|protein complex assembly	nucleus|protein complex	DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|protein binding	p.G244R(1)		NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(6)|stomach(1)|urinary_tract(2)	30		Lung NSC(201;0.0384)|Prostate(884;0.0526)		BRCA - Breast invasive adenocarcinoma(55;3.07e-05)|Epithelial(33;0.000138)|LUSC - Lung squamous cell carcinoma(21;0.008)|Lung(16;0.0107)|KIRC - Kidney renal clear cell carcinoma(39;0.204)|Kidney(39;0.239)		TCTTGGGCTTGATGGATCCTG	0.348000			A		melanoma		"""Waardenburg syndrome type 2, Tietz syndrome"""							33			23		0	0	0.003954	0	0
ZNF423	23090	broad.mit.edu	37	16	49669970	49669970	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr16:49669970G>A	uc002efs.3	-	4	3391	c.3093C>T	c.(3091-3093)tcC>tcT	p.S1031S	ZNF423_uc010vgn.2_Silent_p.S914S	NM_015069	NP_055884	Q2M1K9	ZN423_HUMAN	Homo sapiens zinc finger protein 423 (ZNF423), mRNA.	1031					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				GCTCAAGCGTGGAAGTGACTG	0.597000														15			9		0	0	0.006214	0	0
KIF5A	3798	broad.mit.edu	37	12	57976384	57976384	+	Splice_Site	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:57976384G>A	uc001sor.1	+	27	3201	c.2993_splice	c.e27-1	p.G998_splice	KIF5A_uc010srr.1_Splice_Site_p.G909_splice|BC033961_uc001sos.3_5'Flank	NM_004984	NP_004975	Q12840	KIF5A_HUMAN	Homo sapiens kinesin family member 5A (KIF5A), mRNA.	998	Globular.				blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						GATCTCTTCAGGAAATGCCAC	0.438000														104			82		0	0	0.014410	0	0
CUX2	23316	broad.mit.edu	37	12	111748213	111748213	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:111748213G>A	uc001tsa.2	+	14	1781	c.1627G>A	c.(1627-1629)Gcg>Acg	p.A543T		NM_015267	NP_056082	O14529	CUX2_HUMAN	Homo sapiens cut-like homeobox 2 (CUX2), mRNA.	543						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						TGGGGGCGGAGCGGCGGGGCC	0.706000														8			5		0	0	0.001984	0	0
KCNQ4	9132	broad.mit.edu	37	1	41283850	41283850	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:41283850C>T	uc001cgh.2	+	2	502	c.420C>T	c.(418-420)atC>atT	p.I140I	KCNQ4_uc001cgi.2_Silent_p.I140I	NM_004700	NP_004691	P56696	KCNQ4_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 4 (KCNQ4), transcript variant 1, mRNA.	140					sensory perception of sound	basal plasma membrane|voltage-gated potassium channel complex				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(13)|skin(1)	26	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.38e-17)			TCGTGATGATCGTGGTTTTCG	0.627000														4			58		0	0	0.014410	0	0
KSR2	283455	broad.mit.edu	37	12	118016958	118016958	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:118016958C>T	uc001two.2	-	6	1259	c.1204G>A	c.(1204-1206)Ggg>Agg	p.G402R		NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN	Homo sapiens kinase suppressor of ras 2 (KSR2), mRNA.	431					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)					AAAAGCATCCCTTTCCCACAG	0.488000														15			14		0	0	0.010504	0	0
VCAN	1462	broad.mit.edu	37	5	82786188	82786188	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:82786188C>T	uc003kii.3	+	2	698	c.342C>T	c.(340-342)tcC>tcT	p.S114S	VCAN_uc003kij.3_Silent_p.S114S|VCAN_uc010jau.2_Silent_p.S114S|VCAN_uc003kik.3_Silent_p.S114S|VCAN_uc003kih.4_Silent_p.S114S	NM_004385	NP_004376	P13611	CSPG2_HUMAN	Homo sapiens versican (VCAN), transcript variant 1, mRNA.	114	Ig-like V-type.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		GCGATGCCTCCCTCACTGTGG	0.537000														40			49		0	0	0.014410	0	0
RAB27B	5874	broad.mit.edu	37	18	52546659	52546659	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr18:52546659G>A	uc002lfr.3	+	2	456	c.213G>A	c.(211-213)caG>caA	p.Q71Q		NM_004163	NP_004154	O00194	RB27B_HUMAN	Homo sapiens RAB27B, member RAS oncogene family (RAB27B), mRNA.	71					protein transport|small GTPase mediated signal transduction	Golgi apparatus|plasma membrane	GTP binding|GTPase activity			large_intestine(3)|lung(3)|skin(1)	7				Colorectal(16;0.0273)|READ - Rectum adenocarcinoma(59;0.219)		TGCATCTTCAGCTTTGGGACA	0.373000														39			45		0	0	0.014410	0	0
KCNMA1	3778	broad.mit.edu	37	10	78846346	78846346	+	Missense_Mutation	SNP	G	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr10:78846346G>T	uc001jxn.3	-	10	1517	c.1340C>A	c.(1339-1341)tCc>tAc	p.S447Y	KCNMA1_uc021ptu.1_Missense_Mutation_p.S393Y|KCNMA1_uc001jxj.2_Missense_Mutation_p.S447Y|KCNMA1_uc001jxk.1_Missense_Mutation_p.S62Y|KCNMA1_uc009xrt.1_Missense_Mutation_p.S267Y|KCNMA1_uc001jxl.1_Missense_Mutation_p.S101Y|KCNMA1_uc001jxo.3_Missense_Mutation_p.S447Y|KCNMA1_uc001jxm.3_Missense_Mutation_p.S447Y|KCNMA1_uc001jxq.3_Missense_Mutation_p.S447Y	NM_001161352	NP_001154824	Q12791	KCMA1_HUMAN	Homo sapiens potassium large conductance calcium-activated channel, subfamily M, alpha member 1 (KCNMA1), transcript variant 3, mRNA.	447	RCK N-terminal.				cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	CAGGTTGGGGGAGATGCTACA	0.478000														22			15		1.37285e-15	1.85993e-15	0.004007	1	0
TMPRSS11A	339967	broad.mit.edu	37	4	68784714	68784714	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr4:68784714C>T	uc003hdr.1	-	7	1059	c.938G>A	c.(937-939)gGa>gAa	p.G313E	LOC550112_uc003hdl.4_Intron|TMPRSS11A_uc003hds.1_Missense_Mutation_p.G310E	NM_182606	NP_872412	Q6ZMR5	TM11A_HUMAN	Homo sapiens transmembrane protease, serine 11A (TMPRSS11A), transcript variant 1, mRNA.	313	Peptidase S1.				cell cycle|proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			breast(1)|cervix(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	29						TGCTCCAAATCCTGTGATGTG	0.458000														58			52		0	0	0.014410	0	0
ADAM29	11086	broad.mit.edu	37	4	175898264	175898264	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr4:175898264C>T	uc003iuc.3	+	4	2258	c.1588C>T	c.(1588-1590)Cgt>Tgt	p.R530C	ADAM29_uc003iud.3_Missense_Mutation_p.R530C|ADAM29_uc010irr.3_Missense_Mutation_p.R530C|ADAM29_uc011cki.2_Missense_Mutation_p.R530C|ADAM29_uc021xuo.1_Missense_Mutation_p.R530C	NM_014269	NP_055084	Q9UKF5	ADA29_HUMAN	Homo sapiens ADAM metallopeptidase domain 29 (ADAM29), transcript variant 1, mRNA.	530	Cys-rich.				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding	p.R530H(1)|p.R530P(1)		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)		CTTAGGTGACCGTGTTGGTCA	0.418000														38			26		0	0	0.004656	0	0
ARHGEF4	50649	broad.mit.edu	37	2	131688536	131688536	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:131688536C>T	uc002tsa.1	+	2	525	c.6C>T	c.(4-6)ccC>ccT	p.P2P	ARHGEF4_uc010fmw.1_Silent_p.P648P|ARHGEF4_uc002tsb.1_Silent_p.P2P|ARHGEF4_uc010fmx.1_Silent_p.P2P|ARHGEF4_uc002trz.1_Silent_p.P648P	NM_015320	NP_056135	Q9NR80	ARHG4_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 4 (ARHGEF4), transcript variant 1, mRNA.	2					apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|lamellipodium assembly|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|ruffle membrane	Rac guanyl-nucleotide exchange factor activity|protein domain specific binding			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(4)	29		Prostate(154;0.055)		BRCA - Breast invasive adenocarcinoma(221;0.097)		ACCACATGCCCTGGGAAGAAC	0.552000														15			24		0	0	0.006320	0	0
HESX1	8820	broad.mit.edu	37	3	57232439	57232439	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:57232439G>A	uc003din.4	-	2	773	c.439C>T	c.(439-441)Cta>Tta	p.L147L		NM_003865	NP_003856	Q9UBX0	HESX1_HUMAN	Homo sapiens HESX homeobox 1 (HESX1), mRNA.	147						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(2)	7				KIRC - Kidney renal clear cell carcinoma(284;0.0109)|Kidney(284;0.0126)		TCTTCCTCTAGATTCAATTTT	0.274000														22			24		0	0	0.006320	0	0
LRP2	4036	broad.mit.edu	37	2	170150722	170150722	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:170150722G>A	uc002ues.3	-	5	801	c.588C>T	c.(586-588)atC>atT	p.I196I	LRP2_uc010zdf.1_Silent_p.I196I	NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	196	LDL-receptor class A 5.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	SH3 domain binding|calcium ion binding|receptor activity			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)	AAGCACGAGGGATACACTCTC	0.438000														55			48		0	0	0.014410	0	0
DUSP2	1844	broad.mit.edu	37	2	96809649	96809649	+	Silent	SNP	G	A	A	rs147952657	byFrequency	TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:96809649G>A	uc002svk.4	-	3	944	c.858C>T	c.(856-858)ttC>ttT	p.F286F		NM_004418	NP_004409	Q05923	DUS2_HUMAN	Homo sapiens dual specificity phosphatase 2 (DUSP2), mRNA.	286	Tyrosine-protein phosphatase.				endoderm formation|inactivation of MAPK activity|regulation of apoptosis	nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/threonine phosphatase activity			NS(1)|breast(1)|lung(2)|skin(1)	5		Ovarian(717;0.0228)				GCTGCTTAACGAAGTCAAAGG	0.617000														8			13		0	0	0.013537	0	0
KRT36	8689	broad.mit.edu	37	17	39643322	39643322	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr17:39643322G>A	uc002hwt.3	-	5	1088	c.1088C>T	c.(1087-1089)tCt>tTt	p.S363F		NM_003771	NP_003762	O76013	KRT36_HUMAN	Homo sapiens keratin 36 (KRT36), mRNA.	363	Coil 2.|Rod.					intermediate filament	protein binding|structural constituent of epidermis			breast(2)|cervix(1)|kidney(2)|large_intestine(3)|lung(8)|skin(1)	17		Breast(137;0.000286)				GCGGATCTCAGACAGCTGGGC	0.637000														61			58		0	0	0.014410	0	0
CCDC132	55610	broad.mit.edu	37	7	92970754	92970754	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:92970754C>T	uc003umo.3	+	22	2202	c.2074C>T	c.(2074-2076)Cct>Tct	p.P692S	CCDC132_uc003ump.3_Missense_Mutation_p.P662S|CCDC132_uc003umr.3_Non-coding_Transcript|CCDC132_uc011khz.2_Missense_Mutation_p.P412S	NM_017667	NP_060137	Q96JG6	CC132_HUMAN	Homo sapiens coiled-coil domain containing 132 (CCDC132), transcript variant 1, mRNA.	692										endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			TTCAGCTGATCCTACTGCCAC	0.393000														16			16		0	0	0.004007	0	0
DNAH10	196385	broad.mit.edu	37	12	124323164	124323164	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:124323164C>T	uc001uft.4	+	27	4735	c.4710C>T	c.(4708-4710)ttC>ttT	p.F1570F		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	1570	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GGTTCTTCTTCATTTCTGACG	0.527000														52			47		0	0	0.014410	0	0
LRFN5	145581	broad.mit.edu	37	14	42356124	42356124	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr14:42356124G>A	uc001wvm.3	+	2	1494	c.296G>A	c.(295-297)cGa>cAa	p.R99Q	LRFN5_uc010ana.3_Missense_Mutation_p.R99Q	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 5 (LRFN5), mRNA.	99						integral to membrane		p.R99L(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		GCTGACCTACGAAATTTGAGG	0.358000										HNSCC(30;0.082)				29			39		0	0	0.005524	0	0
TACR3	6870	broad.mit.edu	37	4	104577402	104577402	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr4:104577402G>A	uc003hxe.1	-	2	978	c.837C>T	c.(835-837)atC>atT	p.I279I		NM_001059	NP_001050	P29371	NK3R_HUMAN	Homo sapiens tachykinin receptor 3 (TACR3), mRNA.	279						integral to plasma membrane	tachykinin receptor activity	p.E278K(1)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		TATCTCCTGGGATTTCTCCTC	0.403000														52			47		0	0	0.014410	0	0
CDH6	1004	broad.mit.edu	37	5	31323152	31323152	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:31323152C>T	uc003jhe.2	+	11	2470	c.2110C>T	c.(2110-2112)Cca>Tca	p.P704S		NM_004932	NP_004923	P55285	CADH6_HUMAN	Homo sapiens cadherin 6, type 2, K-cadherin (fetal kidney) (CDH6), mRNA.	704					adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						CCGACGGACTCCAACAGCTCG	0.522000														31			22		0	0	0.012319	0	0
SPAG16	79582	broad.mit.edu	37	2	214204952	214204952	+	Missense_Mutation	SNP	G	A	A	rs144854983		TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:214204952G>A	uc002veq.3	+	5	694	c.602G>A	c.(601-603)cGa>cAa	p.R201Q	SPAG16_uc010fuz.2_Missense_Mutation_p.R52Q|SPAG16_uc002ver.3_Missense_Mutation_p.R147Q|SPAG16_uc010zjk.2_Missense_Mutation_p.R107Q|SPAG16_uc002ves.1_Missense_Mutation_p.R170Q	NM_024532	NP_078808	Q8N0X2	SPG16_HUMAN	Homo sapiens sperm associated antigen 16 (SPAG16), transcript variant 1, mRNA.	201					cilium assembly	cilium axoneme|flagellar axoneme				endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		CATCATAAGCGAATAGTCCAG	0.284000														21			19		0	0	0.012319	0	0
ACRC	93953	broad.mit.edu	37	X	70823746	70823746	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:70823746G>A	uc004eae.2	+	7	1120	c.619G>A	c.(619-621)Gac>Aac	p.D207N	BCYRN1_uc011mpt.1_Intron	NM_052957	NP_443189	Q96QF7	ACRC_HUMAN	Homo sapiens acidic repeat containing (ACRC), mRNA.	207	Asp/Ser-rich.					nucleus		p.D206D(1)		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)					TTCATCCGACGACAACAGTGA	0.498000														134			103		0	0	0.014410	0	0
C3orf56	285311	broad.mit.edu	37	3	126916203	126916203	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:126916203C>T	uc003eji.1	+	1	915	c.675C>T	c.(673-675)tcC>tcT	p.S225S						RecName: Full=Putative uncharacterized protein C3orf56;											breast(1)|endometrium(2)|kidney(1)|lung(5)	9				GBM - Glioblastoma multiforme(114;0.142)		CGGGCTGCTCCCGCTCCTCCT	0.627000														6			6		0	0	0.001984	0	0
CDH12	1010	broad.mit.edu	37	5	21842282	21842282	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:21842282G>A	uc010iuc.2	-	4	1260	c.802C>T	c.(802-804)Cga>Tga	p.R268*	CDH12_uc011cno.1_Nonsense_Mutation_p.R228*|CDH12_uc003jgk.2_Nonsense_Mutation_p.R268*	NM_004061	NP_004052	P55289	CAD12_HUMAN	Homo sapiens cadherin 12, type 2 (N-cadherin 2) (CDH12), mRNA.	268	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						TTGGGGAATCGAGGTGGATTG	0.403000										HNSCC(59;0.17)				47			48		0	0	0.014410	0	0
DHRS9	10170	broad.mit.edu	37	2	169938087	169938087	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:169938087G>A	uc010zdc.2	+	1	288	c.176G>A	c.(175-177)gGa>gAa	p.G59E	DHRS9_uc002uep.3_5'UTR|DHRS9_uc002ueq.3_5'UTR|DHRS9_uc002uer.1_5'UTR|DHRS9_uc010zdd.2_5'UTR|DHRS9_uc010zde.2_5'UTR	NM_199204	NP_954674	Q9BPW9	DHRS9_HUMAN	Homo sapiens dehydrogenase/reductase (SDR family) member 9 (DHRS9), transcript variant 2, mRNA.	0					9-cis-retinoic acid biosynthetic process|androgen metabolic process|epithelial cell differentiation|progesterone metabolic process|retinol metabolic process	integral to endoplasmic reticulum membrane|microsome	alcohol dehydrogenase (NAD) activity|binding|racemase and epimerase activity|retinol dehydrogenase activity|testosterone dehydrogenase (NAD+) activity			breast(1)|endometrium(3)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						CACACAGGGGGAAAAATGCTC	0.383000														33			24		0	0	0.002780	0	0
TTN	7273	broad.mit.edu	37	2	179537423	179537423	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:179537423C>T	uc021vsy.1	-	147	31116	c.30891G>A	c.(30889-30891)aaG>aaA	p.K10297K	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.K6958K|TTN_uc010fre.1_Intron|TTN_uc010zfk.1_5'Flank|TTN_uc002una.1_Non-coding_Transcript|TTN_uc010frf.1_Intron	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	11224	Glu-rich.|Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAGGAATTTTCTTTGACACTT	0.363000														13			9		0	0	0.008291	0	0
TLE4	7091	broad.mit.edu	37	9	82324555	82324555	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr9:82324555C>T	uc004ald.3	+	14	2205	c.1356C>T	c.(1354-1356)caC>caT	p.H452H	TLE4_uc004alc.3_Silent_p.H427H|TLE4_uc010mpr.3_Silent_p.H306H|TLE4_uc004ale.3_Silent_p.H64H|TLE4_uc011lsq.2_Silent_p.H395H|TLE4_uc010mps.3_Silent_p.H351H|TLE4_uc004alf.3_Silent_p.H366H	NM_007005	NP_008936	O60756	BCE1_HUMAN	Homo sapiens transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila) (TLE4), mRNA.	0										breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						TTGATCCACACCATCACATGC	0.413000														4			21		0	0	0.002780	0	0
FSCB	84075	broad.mit.edu	37	14	44974330	44974330	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr14:44974330C>T	uc001wvn.3	-	0	2170	c.1861G>A	c.(1861-1863)Gaa>Aaa	p.E621K		NM_032135	NP_115511	Q5H9T9	FSCB_HUMAN	Homo sapiens fibrous sheath CABYR binding protein (FSCB), mRNA.	621	Ala-rich.					cilium				breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		GGCTGAACTTCAGCGGGGGCC	0.622000														14			15		0	0	0.010504	0	0
IL1RL2	8808	broad.mit.edu	37	2	102835524	102835524	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:102835524G>A	uc002tbs.3	+	6	962	c.836G>A	c.(835-837)cGa>cAa	p.R279Q	IL1RL2_uc002tbt.3_Missense_Mutation_p.R161Q	NM_003854	NP_003845	Q9HB29	ILRL2_HUMAN	Homo sapiens interleukin 1 receptor-like 2 (IL1RL2), mRNA.	279	Ig-like C2-type 3.				cellular defense response|innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1)	26						GAATCCAAACGAATCAGAGAA	0.403000														52			29		0	0	0.003271	0	0
ZNF639	51193	broad.mit.edu	37	3	179051528	179051528	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:179051528C>T	uc003fjr.1	+	6	1221	c.776C>T	c.(775-777)cCc>cTc	p.P259L	ZNF639_uc003fjq.1_Missense_Mutation_p.P259L	NM_016331	NP_057415	Q9UID6	ZN639_HUMAN	Homo sapiens zinc finger protein 639 (ZNF639), mRNA.	259					initiation of viral infection|negative regulation by host of viral transcription|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of cell growth|positive regulation of transcription, DNA-dependent	nucleus	protein self-association|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(10)|urinary_tract(1)	16	all_cancers(143;7.9e-17)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			GAAGAGGATCCCTACATTTGT	0.383000														40			34		0	0	0.013726	0	0
CACNA1C	775	broad.mit.edu	37	12	2224556	2224556	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:2224556C>T	uc009zdu.1	+	1	529	c.216C>T	c.(214-216)acC>acT	p.T72T	CACNA1C_uc001qkc.2_Silent_p.T72T|CACNA1C_uc001qjz.2_Silent_p.T72T|CACNA1C_uc001qkd.2_Silent_p.T72T|CACNA1C_uc001qke.2_Silent_p.T72T|CACNA1C_uc001qkf.2_Silent_p.T72T|CACNA1C_uc009zdw.1_Silent_p.T72T|CACNA1C_uc001qkg.2_Silent_p.T72T|CACNA1C_uc001qkh.2_Silent_p.T72T|CACNA1C_uc001qkl.2_Silent_p.T72T|CACNA1C_uc001qkj.2_Silent_p.T72T|CACNA1C_uc001qkk.2_Silent_p.T72T|CACNA1C_uc001qkn.2_Silent_p.T72T|CACNA1C_uc001qkm.2_Silent_p.T72T|CACNA1C_uc001qko.2_Silent_p.T72T|CACNA1C_uc001qkp.2_Silent_p.T72T|CACNA1C_uc001qkq.2_Silent_p.T72T|CACNA1C_uc001qku.2_Silent_p.T72T|CACNA1C_uc001qkr.2_Silent_p.T72T|CACNA1C_uc001qks.2_Silent_p.T72T|CACNA1C_uc001qkt.2_Silent_p.T72T|CACNA1C_uc009zdv.1_Silent_p.T72T|CACNA1C_uc001qkb.2_Silent_p.T72T	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA.	72					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)	GCAATGCGACCATCTCCACAG	0.687000														2			6		0	0	0.001168	0	0
TTN	7273	broad.mit.edu	37	2	179478624	179478624	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:179478624G>A	uc021vsy.1	-	211	41907	c.41682C>T	c.(41680-41682)atC>atT	p.I13894I	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.I7589I|TTN_uc021vta.1_Silent_p.I7522I|TTN_uc021vtb.1_Silent_p.I7397I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	14821							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)			CGTCTTTAGTGATATCAGAAG	0.428000														86			56		0	0	0.014410	0	0
RNF31	55072	broad.mit.edu	37	14	24620500	24620500	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr14:24620500C>T	uc001wmn.1	+	8	1898	c.1649C>T	c.(1648-1650)tCc>tTc	p.S550F	RNF31_uc001wml.1_Missense_Mutation_p.S399F|RNF31_uc001wmm.1_Intron|RNF31_uc010alg.1_Intron|RNF31_uc001wmo.1_Missense_Mutation_p.S17F|RNF31_uc001wmp.3_Non-coding_Transcript	NM_017999	NP_060469	Q96EP0	RNF31_HUMAN	Homo sapiens ring finger protein 31 (RNF31), mRNA.	550					CD40 signaling pathway|T cell receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein linear polyubiquitination	CD40 receptor complex|LUBAC complex|internal side of plasma membrane	ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(4)|skin(2)|soft_tissue(1)	39				GBM - Glioblastoma multiforme(265;0.00861)		GGTGCCTTTTCCTGTCAGGAG	0.607000														20			22		0	0	0.002780	0	0
IPO5	3843	broad.mit.edu	37	13	98671974	98671974	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr13:98671974C>T	uc001vne.3	+	26	3210	c.3030C>T	c.(3028-3030)gtC>gtT	p.V1010V		NM_002271	NP_002262	O00410	IPO5_HUMAN	Homo sapiens importin 5 (IPO5), mRNA.	992					NLS-bearing substrate import into nucleus|interspecies interaction between organisms|ribosomal protein import into nucleus	cytoplasm|nuclear pore|nucleolus	GTPase inhibitor activity|Ran GTPase binding|protein transporter activity			breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						TTGAAGAGGTCCTTCCACACT	0.408000														48			31		0	0	0.013726	0	0
DCLK3	85443	broad.mit.edu	37	3	36759603	36759603	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:36759603G>A	uc003cgi.2	-	3	2142	c.1651C>T	c.(1651-1653)Ccc>Tcc	p.P551S		NM_033403	NP_208382	Q9C098	DCLK3_HUMAN	Homo sapiens doublecortin-like kinase 3 (DCLK3), mRNA.	551	Protein kinase.					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity	p.P551S(2)		breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						CGGAATGGGGGAAAGCCACAC	0.557000														103			68		0	0	0.014410	0	0
FAM83A	84985	broad.mit.edu	37	8	124219538	124219538	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr8:124219538C>T	uc003ypv.3	+	4	2929	c.915C>T	c.(913-915)gtC>gtT	p.V305V	FAM83A_uc003ypw.3_Silent_p.V305V|FAM83A_uc003ypx.3_Silent_p.V305V|FAM83A_uc003ypy.3_Silent_p.V249V|FAM83A_uc003ypz.3_Silent_p.V305V	NM_032899	NP_116288	Q86UY5	FA83A_HUMAN	Homo sapiens family with sequence similarity 83, member A (FAM83A), transcript variant 1, mRNA.	305										breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(2)|skin(1)	17	Lung NSC(37;1.55e-09)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			CGCGGCTGGTCGCCCCCGTCC	0.692000														10			9		0	0	0.006214	0	0
SUCNR1	56670	broad.mit.edu	37	3	151599324	151599324	+	Missense_Mutation	SNP	C	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:151599324C>A	uc003ezf.2	+	2	1098	c.993C>A	c.(991-993)ttC>ttA	p.F331L		NM_033050	NP_149039	Q9BXA5	SUCR1_HUMAN	Homo sapiens succinate receptor 1 (SUCNR1), mRNA.	331						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	14			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)		Succinic acid(DB00139)	TACTTTCATTCAGAGAAAAGT	0.418000														32			21		1.10513e-12	1.49446e-12	0.014323	1	0
LCE1F	353137	broad.mit.edu	37	1	152748928	152748928	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:152748928G>A	uc010pdv.2	+	0	81	c.81G>A	c.(79-81)ccG>ccA	p.P27P		NM_178354	NP_848131	Q5T754	LCE1F_HUMAN	Homo sapiens late cornified envelope 1F (LCE1F), mRNA.	27	Pro-rich.				keratinization					kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			gccccacaccgaagtgccccc	0.657000														3			80		0	0	0.014410	0	0
abParts	0	broad.mit.edu	37	14	106877891	106877891	+	RNA	SNP	G	A	A	rs149688840	by1000genomes	TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr14:106877891G>A	uc021ser.1	-	409		c.13034C>T								Parts of antibodies, mostly variable regions.																		ACCAGTCCTGGGCCCGACTCC	0.602000														23			24		0	0	0.003954	0	0
RAI2	10742	broad.mit.edu	37	X	17819275	17819275	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:17819275C>T	uc022btm.1	-	0	856	c.856G>A	c.(856-858)Gat>Aat	p.D286N	RAI2_uc004cyf.3_Missense_Mutation_p.D286N|RAI2_uc004cyg.3_Missense_Mutation_p.D286N|RAI2_uc011miy.2_Missense_Mutation_p.D236N|RAI2_uc022btl.1_Missense_Mutation_p.D286N|RAI2_uc004cyh.4_Missense_Mutation_p.D286N|RAI2_uc010nfa.3_Missense_Mutation_p.D286N	NM_021785	NP_068557	Q9Y5P3	RAI2_HUMAN	Homo sapiens retinoic acid induced 2 (RAI2), transcript variant 2, mRNA.	286					embryo development					breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	22	Hepatocellular(33;0.183)					TTCAGTTCATCTTTTTCCAGA	0.537000														85			88		0	0	0.014410	0	0
KIAA0564	23078	broad.mit.edu	37	13	42179322	42179322	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr13:42179322G>A	uc001uyj.3	-	39	5038	c.4968C>T	c.(4966-4968)atC>atT	p.I1656I		NM_015058	NP_055873	A3KMH1	K0564_HUMAN	Homo sapiens KIAA0564 (KIAA0564), transcript variant 1, mRNA.	1656						extracellular region	ATP binding|ATPase activity			endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(19)|lung(15)|ovary(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75		Lung NSC(96;4.61e-06)|Prostate(109;0.0167)|Lung SC(185;0.0262)|Breast(139;0.0854)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000368)|GBM - Glioblastoma multiforme(144;0.0033)|BRCA - Breast invasive adenocarcinoma(63;0.0969)		TATCCAGGATGATTCGGAGGG	0.433000														42			43		0	0	0.014410	0	0
TP63	8626	broad.mit.edu	37	3	189612184	189612184	+	Missense_Mutation	SNP	C	G	G			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:189612184C>G	uc003fry.2	+	13	2025	c.1936C>G	c.(1936-1938)Ctc>Gtc	p.L646V	TP63_uc003frz.2_3'UTR|TP63_uc010hzc.1_3'UTR|TP63_uc003fsc.2_Missense_Mutation_p.L552V|TP63_uc003fsd.2_3'UTR|TP63_uc021xir.1_3'UTR|TP63_uc010hzd.1_Missense_Mutation_p.L467V	NM_003722	NP_003713	Q9H3D4	P63_HUMAN	Homo sapiens tumor protein p63 (TP63), transcript variant 1, mRNA.	646	Transactivation inhibition.				DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|Notch signaling pathway|anti-apoptosis|cellular response to UV|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to X-ray|response to gamma radiation	Golgi apparatus|chromatin|cytosol|dendrite|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		GCGATTCACCCTCCGCCAGAC	0.562000										HNSCC(45;0.13)				50			41		0	0	0.008740	0	0
FBXO39	162517	broad.mit.edu	37	17	6683602	6683602	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr17:6683602C>T	uc010vtg.2	+	1	535	c.415C>T	c.(415-417)Ctg>Ttg	p.L139L		NM_153230	NP_694962	Q8N4B4	FBX39_HUMAN	Homo sapiens F-box protein 39 (FBXO39), mRNA.	139										NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	26						GCTGGACCGCCTGGTATGGAG	0.502000														32			19		0	0	0.008871	0	0
FBXL21	26223	broad.mit.edu	37	5	135276297	135276297	+	RNA	SNP	T	C	C			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:135276297T>C	uc021ydv.1	+	6		c.1091T>C			FBXL21_uc003lbc.3_Non-coding_Transcript|FBXL21_uc021ydw.1_Non-coding_Transcript|FBXL21_uc021ydx.1_Non-coding_Transcript	NM_012159		Q9UKT6	FXL21_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 21 (gene/pseudogene) (FBXL21), mRNA.						rhythmic process	ubiquitin ligase complex	ubiquitin-protein ligase activity			large_intestine(5)|lung(4)	9			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CCAATAATAGTGACACTCTAA	0.318000														28			22		0	0	0.003954	0	0
NHLRC3	387921	broad.mit.edu	37	13	39612779	39612779	+	Missense_Mutation	SNP	G	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr13:39612779G>T	uc001uxc.3	+	0	325	c.3G>T	c.(1-3)atG>atT	p.M1I	PROSER1_uc001uwy.3_5'Flank|PROSER1_uc001uwz.3_5'Flank|NHLRC3_uc001uxd.3_Missense_Mutation_p.M1I|NHLRC3_uc001uxe.3_Intron	NM_001012754	NP_001012772	Q5JS37	NHLC3_HUMAN	Homo sapiens NHL repeat containing 3 (NHLRC3), transcript variant 1, mRNA.	1						extracellular region				breast(1)|kidney(1)|large_intestine(3)|lung(4)|skin(2)	11		Lung NSC(96;6.01e-07)|Breast(139;0.00394)|Prostate(109;0.00676)|Lung SC(185;0.0548)|Hepatocellular(188;0.114)		all cancers(112;2.37e-08)|Epithelial(112;3.14e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00101)|BRCA - Breast invasive adenocarcinoma(63;0.00335)|GBM - Glioblastoma multiforme(144;0.0128)		GTCTGGTCATGGCGAGATTCT	0.582000														113			6		0.00116845	0.00157353	0.001168	1	0
STAU1	6780	broad.mit.edu	37	20	47741072	47741072	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr20:47741072G>A	uc002xud.3	-	6	1073	c.662C>T	c.(661-663)tCg>tTg	p.S221L	STAU1_uc002xua.3_Missense_Mutation_p.S140L|STAU1_uc002xub.3_Missense_Mutation_p.S146L|STAU1_uc002xuc.3_Missense_Mutation_p.S140L|STAU1_uc002xue.3_Missense_Mutation_p.S140L|STAU1_uc002xuf.3_Missense_Mutation_p.S146L|STAU1_uc002xug.3_Missense_Mutation_p.S221L	NM_017453	NP_059348	O95793	STAU1_HUMAN	Homo sapiens staufen, RNA binding protein, homolog 1 (Drosophila) (STAU1), transcript variant T3, mRNA.	221	DRBM 2.					microtubule associated complex|rough endoplasmic reticulum|stress granule	double-stranded RNA binding			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	23			BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198)			CTCCCCAACCGAAACCTTGGT	0.498000														45			39		0	0	0.008740	0	0
TRPM8	79054	broad.mit.edu	37	2	234891807	234891807	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:234891807C>T	uc002vvh.3	+	19	2740	c.2700C>T	c.(2698-2700)ttC>ttT	p.F900F	TRPM8_uc010fyj.3_Silent_p.F478F|TRPM8_uc010fyk.3_Non-coding_Transcript	NM_024080	NP_076985	Q7Z2W7	TRPM8_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 8 (TRPM8), mRNA.	900						integral to membrane				breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	GGTGGATATTCCGTTCGGTCA	0.567000														57			59		0	0	0.014410	0	0
ARMC4	55130	broad.mit.edu	37	10	28284008	28284008	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr10:28284008C>T	uc009xky.3	-	1	162	c.64G>A	c.(64-66)Gaa>Aaa	p.E22K	ARMC4_uc001itz.3_Missense_Mutation_p.E22K	NM_018076	NP_060546	Q5T2S8	ARMC4_HUMAN	Homo sapiens armadillo repeat containing 4 (ARMC4), mRNA.	22							binding	p.E22K(2)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						GGGGTGATTTCGAGGATTCCA	0.453000														35			15		0	0	0.004990	0	0
EPHA7	2045	broad.mit.edu	37	6	93955132	93955132	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr6:93955132G>A	uc003poe.3	-	15	3007	c.2766C>T	c.(2764-2766)ttC>ttT	p.F922F	EPHA7_uc003pof.3_Silent_p.F917F|EPHA7_uc011eac.2_Silent_p.F918F	NM_004440	NP_004431	Q15375	EPHA7_HUMAN	Homo sapiens EPH receptor A7 (EPHA7), mRNA.	922						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		AAAAGGTAGTGAAATCAGGAG	0.363000														6			53		0	0	0.014410	0	0
DUSP27	92235	broad.mit.edu	37	1	167096085	167096085	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:167096085G>A	uc001geb.1	+	4	1733	c.1717G>A	c.(1717-1719)Gag>Aag	p.E573K		NM_001080426	NP_001073895	Q5VZP5	DUS27_HUMAN	Homo sapiens dual specificity phosphatase 27 (putative) (DUSP27), mRNA.	573					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						GCCCGGTGCAGAGGAGGCAGT	0.552000														2			78		0	0	0.014410	0	0
PIKFYVE	200576	broad.mit.edu	37	2	209214792	209214792	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:209214792C>T	uc002vcz.3	+	35	5577	c.5419C>T	c.(5419-5421)Cct>Tct	p.P1807S		NM_015040	NP_055855	Q9Y2I7	FYV1_HUMAN	Homo sapiens phosphoinositide kinase, FYVE finger containing (PIKFYVE), transcript variant 2, mRNA.	1807	PIPK.				cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						ACTCATAAATCCTCATGTGGA	0.343000														52			49		0	0	0.014410	0	0
IL17RE	132014	broad.mit.edu	37	3	9948474	9948474	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:9948474C>T	uc003btu.3	+	5	575	c.571C>T	c.(571-573)Cgc>Tgc	p.R191C	CIDEC_uc003bto.3_Intron|IL17RE_uc003btv.3_Missense_Mutation_p.R151C|IL17RE_uc011atn.1_Non-coding_Transcript|IL17RE_uc003bty.3_Non-coding_Transcript|IL17RE_uc003btx.3_Missense_Mutation_p.R35C|IL17RE_uc010hcq.3_Missense_Mutation_p.R151C|IL17RE_uc003btw.3_Missense_Mutation_p.R151C	NM_153483	NP_705616	Q8NFR9	I17RE_HUMAN	Homo sapiens interleukin 17 receptor E (IL17RE), transcript variant 5, mRNA.	151						cytoplasm|extracellular region|integral to membrane	receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(11)|skin(1)	21				OV - Ovarian serous cystadenocarcinoma(96;5.34e-64)		CAAGGGACTTCGCTCTAAAAG	0.532000														76			45		0	0	0.013114	0	0
CD180	4064	broad.mit.edu	37	5	66479840	66479840	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:66479840C>T	uc003juy.2	-	2	979	c.831G>A	c.(829-831)gaG>gaA	p.E277E		NM_005582	NP_005573	Q99467	CD180_HUMAN	Homo sapiens CD180 molecule (CD180), mRNA.	277					inflammatory response|innate immune response	integral to membrane|plasma membrane	receptor activity			cervix(1)|endometrium(2)|kidney(7)|large_intestine(12)|liver(1)|lung(8)|ovary(1)|stomach(2)	34		Lung NSC(167;4.94e-05)|Prostate(74;0.00601)|Ovarian(174;0.0654)|Breast(144;0.198)|Colorectal(97;0.234)		Lung(70;0.0046)		GGTTGAGGCTCTCAACAGACA	0.468000														35			37		0	0	0.005524	0	0
OR5AK2	390181	broad.mit.edu	37	11	56756472	56756472	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:56756472C>T	uc010rjp.2	+	0	84	c.84C>T	c.(82-84)ttC>ttT	p.F28F		NM_001005323	NP_001005323	Q8NH90	O5AK2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AK, member 2 (OR5AK2), mRNA.	28					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21						GTATCCTCTTCATTGTATTCC	0.393000														66			41		0	0	0.008740	0	0
ACSL5	51703	broad.mit.edu	37	10	114177625	114177625	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr10:114177625C>T	uc001kzu.3	+	13	1520	c.1408C>T	c.(1408-1410)Cgt>Tgt	p.R470C	ACSL5_uc001kzs.3_Missense_Mutation_p.R414C|ACSL5_uc001kzt.3_Missense_Mutation_p.R414C|ACSL5_uc009xxz.3_Missense_Mutation_p.R414C|ACSL5_uc010qrj.2_Missense_Mutation_p.R196C	NM_016234	NP_976314	Q9ULC5	ACSL5_HUMAN	Homo sapiens acyl-CoA synthetase long-chain family member 5 (ACSL5), transcript variant 1, mRNA.	414					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane	ATP binding|long-chain fatty acid-CoA ligase activity	p.R470C(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1)	21		Colorectal(252;0.117)|Breast(234;0.222)		Epithelial(162;0.0343)|all cancers(201;0.137)		CGGAAGGGTTCGTGTAATTGT	0.473000														64			51		0	0	0.014410	0	0
RELN	5649	broad.mit.edu	37	7	103338452	103338452	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:103338452C>T	uc022ajr.1	-	9	1151	c.991G>A	c.(991-993)Gaa>Aaa	p.E331K	RELN_uc022ajq.1_Missense_Mutation_p.E331K|RELN_uc010liz.3_Missense_Mutation_p.E331K	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	331					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	p.E331K(4)		NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CGAAGATTTTCCTGCTTCCAC	0.448000														105			51		0	0	0.014410	0	0
EIF4E1B	253314	broad.mit.edu	37	5	176072429	176072429	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:176072429G>A	uc010jkf.1	+	7	1110	c.526G>A	c.(526-528)Ggg>Agg	p.G176R	TSPAN17_uc003mes.3_5'Flank|TSPAN17_uc003met.3_5'Flank|TSPAN17_uc003meu.3_5'Flank|TSPAN17_uc003mew.3_5'Flank	NM_001099408	NP_001092878	A6NMX2	I4E1B_HUMAN	Homo sapiens eukaryotic translation initiation factor 4E family member 1B (EIF4E1B), mRNA.	176					regulation of translation	cytoplasm|mRNA cap binding complex	translation initiation factor activity			breast(1)|large_intestine(1)|lung(2)|pancreas(1)	5	all_cancers(89;0.00185)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGAGGTATGTGGGGCCGTCGT	0.617000														18			19		0	0	0.010504	0	0
CLEC4D	338339	broad.mit.edu	37	12	8671720	8671720	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:8671720G>A	uc001qun.3	+	3	541	c.348G>A	c.(346-348)ggG>ggA	p.G116G		NM_080387	NP_525126	Q8WXI8	CLC4D_HUMAN	Homo sapiens C-type lectin domain family 4, member D (CLEC4D), mRNA.	116	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)					CAGGGATGGGGGCCCATCTGA	0.488000														18			17		0	0	0.006122	0	0
TACC2	10579	broad.mit.edu	37	10	123844737	123844737	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr10:123844737G>A	uc001lfv.3	+	3	3082	c.2722G>A	c.(2722-2724)Ggc>Agc	p.G908S	TACC2_uc001lfw.3_Intron|TACC2_uc009xzx.3_Missense_Mutation_p.G908S|TACC2_uc010qtv.2_Missense_Mutation_p.G908S	NM_206862	NP_996744	O95359	TACC2_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA.	908						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)				GCTCCCCAAAGGCACCCTGTC	0.488000														31			17		0	0	0.004007	0	0
CHST15	51363	broad.mit.edu	37	10	125805533	125805533	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr10:125805533C>T	uc001lhn.3	-	1	930	c.196G>A	c.(196-198)Gaa>Aaa	p.E66K	CHST15_uc001lhm.3_Missense_Mutation_p.E66K|CHST15_uc010que.2_Missense_Mutation_p.E66K|CHST15_uc001lho.3_Missense_Mutation_p.E66K	NM_015892	NP_056976	Q7LFX5	CHSTF_HUMAN	Homo sapiens carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15 (CHST15), transcript variant 1, mRNA.	66					hexose biosynthetic process	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity			endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1)	26						CCCCAGTTTTCGTTCCCTTCA	0.463000														34			25		0	0	0.004656	0	0
LRP1B	53353	broad.mit.edu	37	2	141458014	141458014	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:141458014G>A	uc002tvj.1	-	40	7576	c.6604C>T	c.(6604-6606)Ctt>Ttt	p.L2202F		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	2202					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)		TCATCAGAAAGATGTATACTT	0.363000										TSP Lung(27;0.18)				48			33		0	0	0.010818	0	0
ADAM22	53616	broad.mit.edu	37	7	87759722	87759722	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:87759722C>T	uc003ujn.3	+	9	988	c.773C>T	c.(772-774)tCc>tTc	p.S258F	ADAM22_uc003ujj.2_Missense_Mutation_p.S258F|ADAM22_uc003ujk.2_Missense_Mutation_p.S258F|ADAM22_uc003ujl.2_Missense_Mutation_p.S258F|ADAM22_uc003ujm.3_Missense_Mutation_p.S258F|ADAM22_uc003ujo.3_Missense_Mutation_p.S258F|ADAM22_uc003ujp.1_Missense_Mutation_p.S310F	NM_021723	NP_068369	Q9P0K1	ADA22_HUMAN	Homo sapiens ADAM metallopeptidase domain 22 (ADAM22), transcript variant 1, mRNA.	258	Peptidase M12B.				cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding			endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			CATCGGCTTTCCGTTGTACAT	0.368000														60			35		0	0	0.005524	0	0
TNXB	7148	broad.mit.edu	37	6	32021304	32021304	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr6:32021304C>T	uc003nzl.2	-	24	8848	c.8646G>A	c.(8644-8646)caG>caA	p.Q2882Q		NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	2931					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						CCACCTTGGGCTGCCCATCCC	0.632000														477			208		0	0	0.014410	0	0
FAM82A1	151393	broad.mit.edu	37	2	38179109	38179109	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:38179109C>T	uc002rqn.2	+	1	877	c.751C>T	c.(751-753)Cct>Tct	p.P251S	FAM82A1_uc002rqk.1_Intron|FAM82A1_uc002rql.3_Intron|FAM82A1_uc021vga.1_Intron|FAM82A1_uc002rqm.3_Intron	NM_144713	NP_653314	Q96LZ7	RMD2_HUMAN	Homo sapiens family with sequence similarity 82, member A1 (FAM82A1), transcript variant 1, mRNA.	0						cytoplasm|integral to membrane|microtubule|spindle pole	binding			endometrium(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)	13						TTTCCTTCATCCTCGTCCTGA	0.398000														52			38		0	0	0.006999	0	0
ZNF317	57693	broad.mit.edu	37	19	9267342	9267342	+	Missense_Mutation	SNP	C	T	T	rs141551247		TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:9267342C>T	uc002mku.3	+	2	385	c.80C>T	c.(79-81)tCa>tTa	p.S27L	ZNF317_uc010xkm.2_Silent_p.F68F|ZNF317_uc002mkv.3_5'UTR|ZNF317_uc002mkw.3_Missense_Mutation_p.S27L|ZNF317_uc002mkx.3_5'UTR|ZNF317_uc002mky.3_5'UTR	NM_020933	NP_065984	Q96PQ6	ZN317_HUMAN	Homo sapiens zinc finger protein 317 (ZNF317), transcript variant 1, mRNA.	27					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	27						CCTGTTTCTTCAAAAGACCAT	0.527000														83			69		0	0	0.014410	0	0
SLC25A34	284723	broad.mit.edu	37	1	16064662	16064662	+	Silent	SNP	T	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:16064662T>A	uc001axb.1	+	2	691	c.519T>A	c.(517-519)gcT>gcA	p.A173A		NM_207348	NP_997231	Q6PIV7	S2534_HUMAN	Homo sapiens solute carrier family 25, member 34 (SLC25A34), mRNA.	173					transport	integral to membrane|mitochondrial inner membrane				NS(1)|breast(1)|endometrium(3)|large_intestine(1)|lung(2)|skin(1)	9		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TTGGTGGGGCTGTGCCCCGAG	0.662000														2			35		0	0	0.004878	0	0
WNT8B	7479	broad.mit.edu	37	10	102238824	102238824	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr10:102238824C>T	uc001krb.3	+	1	198	c.84C>T	c.(82-84)ttC>ttT	p.F28F		NM_003393	NP_003384	Q93098	WNT8B_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 8B (WNT8B), mRNA.	28					Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway, calcium modulating pathway|anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|determination of dorsal identity|endoderm development|eye development|gastrulation|hypothalamus development|negative regulation of anterior neural cell fate commitment of the neural plate by Wnt receptor signaling pathway|otic placode formation|positive regulation of gene expression|response to estradiol stimulus	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity			breast(1)|large_intestine(1)|ovary(1)|skin(1)	4		Colorectal(252;0.117)		Epithelial(162;1.87e-10)|all cancers(201;1.64e-08)		TGAACAATTTCCTGATGACTG	0.333000														19			18		0	0	0.010504	0	0
ZNF827	152485	broad.mit.edu	37	4	146686844	146686844	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr4:146686844G>A	uc003ikn.3	-	11	2955	c.2907C>T	c.(2905-2907)tcC>tcT	p.S969S	ZNF827_uc003ikm.3_Silent_p.S969S|ZNF827_uc010iox.3_Silent_p.S619S|ZNF827_uc003ikl.3_Silent_p.S54S	NM_178835	NP_849157	Q17R98	ZN827_HUMAN	Homo sapiens zinc finger protein 827 (ZNF827), mRNA.	969	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					CTGAGAGGGAGGATGAAGAGG	0.463000														51			42		0	0	0.014410	0	0
CDH6	1004	broad.mit.edu	37	5	31317547	31317547	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:31317547C>T	uc003jhe.2	+	9	1938	c.1578C>T	c.(1576-1578)tcC>tcT	p.S526S	CDH6_uc003jhd.2_Silent_p.S526S	NM_004932	NP_004923	P55285	CADH6_HUMAN	Homo sapiens cadherin 6, type 2, K-cadherin (fetal kidney) (CDH6), mRNA.	526	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						TTTCGTTTTCCTTGGCCCCTG	0.408000														41			46		0	0	0.014410	0	0
LSAMP	4045	broad.mit.edu	37	3	115805321	115805321	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:115805321G>A	uc011bis.2	-	1	745	c.238C>T	c.(238-240)Ctg>Ttg	p.L80L	LSAMP_uc003ebs.3_Silent_p.L80L	NM_002338	NP_002329	Q13449	LSAMP_HUMAN	Homo sapiens limbic system-associated membrane protein (LSAMP), mRNA.	80	Ig-like C2-type 1.				cell adhesion|nervous system development	anchored to membrane|plasma membrane		p.L80L(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(4)|lung(14)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31		all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215)		GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152)		CGTGGGTCCAGAGACCACTTG	0.502000														39			33		0	0	0.004289	0	0
MTUS2	23281	broad.mit.edu	37	13	29933550	29933550	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr13:29933550G>A	uc001usl.4	+	5	3145	c.3087G>A	c.(3085-3087)ctG>ctA	p.L1029L		NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN	Homo sapiens microtubule associated tumor suppressor candidate 2 (MTUS2), transcript variant 1, mRNA.	1019	Localization to the growing distal tip of microtubules.					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						AAGGGGAGCTGAAGAGGGCCA	0.627000														6			8		0	0	0.004482	0	0
CNNM2	54805	broad.mit.edu	37	10	104816573	104816573	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr10:104816573C>T	uc001kwm.3	+	3	2088	c.1925C>T	c.(1924-1926)tCc>tTc	p.S642F	CNNM2_uc001kwn.3_Missense_Mutation_p.S642F	NM_017649	NP_060119	Q9H8M5	CNNM2_HUMAN	Homo sapiens cyclin M2 (CNNM2), transcript variant 1, mRNA.	642					ion transport	integral to membrane				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		TTTAGCCCATCCCAGATGTCA	0.363000														25			22		0	0	0.012319	0	0
GPRASP1	9737	broad.mit.edu	37	X	101912384	101912384	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:101912384G>A	uc010nod.3	+	2	4185	c.3543G>A	c.(3541-3543)atG>atA	p.M1181I	ARMCX5-GPRASP2_uc022cay.1_Intron|GPRASP1_uc022cbc.1_Missense_Mutation_p.M1181I|GPRASP1_uc004ejj.4_Missense_Mutation_p.M1181I|GPRASP1_uc004eji.4_Missense_Mutation_p.M1181I|GPRASP1_uc022cbd.1_Missense_Mutation_p.M1181I	NM_001099411	NP_055525	Q5JY77	GASP1_HUMAN	Homo sapiens G protein-coupled receptor associated sorting protein 1 (GPRASP1), transcript variant 3, mRNA.	1181	OPRD1-binding.					cytoplasm	protein binding			NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						CAATGGGTATGAGAAGTGCTT	0.358000														44			37		0	0	0.005524	0	0
LGI2	55203	broad.mit.edu	37	4	25028503	25028503	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr4:25028503G>A	uc003grf.2	-	2	427	c.328C>T	c.(328-330)Cat>Tat	p.H110Y		NM_018176	NP_060646	Q8N0V4	LGI2_HUMAN	Homo sapiens leucine-rich repeat LGI family, member 2 (LGI2), mRNA.	110						extracellular region				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33		Breast(46;0.173)				TATTCAAGATGAAAAAGTCCA	0.388000														37			47		0	0	0.014410	0	0
ANO3	63982	broad.mit.edu	37	11	26664794	26664794	+	Missense_Mutation	SNP	T	G	G	rs11825056		TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:26664794T>G	uc001mqt.4	+	22	2486	c.2341T>G	c.(2341-2343)Tta>Gta	p.L781V	ANO3_uc010rdr.2_Missense_Mutation_p.L765V|ANO3_uc010rds.2_Missense_Mutation_p.L620V|ANO3_uc010rdt.2_Missense_Mutation_p.L635V	NM_031418	NP_113606	Q9BYT9	ANO3_HUMAN	Homo sapiens anoctamin 3 (ANO3), mRNA.	781			L -> V (in dbSNP:rs11825056).			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						TTTGGCTTTGTTAAACAATAT	0.408000														45			44		0	0	0.014410	0	0
ZNF33B	7582	broad.mit.edu	37	10	43089079	43089079	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr10:43089079G>A	uc001jaf.1	-	4	1434	c.1319C>T	c.(1318-1320)cCc>cTc	p.P440L	ZNF33B_uc009xmg.1_Intron|ZNF33B_uc001jae.1_Intron|ZNF33B_uc001jag.1_Missense_Mutation_p.P328L|ZNF33B_uc001jad.3_Intron	NM_006955	NP_008886	Q06732	ZN33B_HUMAN	Homo sapiens zinc finger protein 33B (ZNF33B), mRNA.	440						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1)	29						ACATTCATAGGGTTTCTGCCC	0.408000														28			40		0	0	0.006999	0	0
CHD6	84181	broad.mit.edu	37	20	40033886	40033886	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr20:40033886G>A	uc002xka.1	-	36	7673	c.7495C>T	c.(7495-7497)Cca>Tca	p.P2499S	CHD6_uc002xjz.1_Missense_Mutation_p.P36S	NM_032221	NP_115597	Q8TD26	CHD6_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 6 (CHD6), mRNA.	2499					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|chromatin binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				AAGCCAGCTGGAAACCCCACC	0.557000														35			29		0	0	0.010818	0	0
SDAD1	55153	broad.mit.edu	37	4	76891466	76891466	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr4:76891466G>A	uc003hje.4	-	9	998	c.879C>T	c.(877-879)ccC>ccT	p.P293P	SDAD1_uc003hjf.4_Silent_p.P196P|SDAD1_uc011cbr.2_Silent_p.P256P	NM_018115	NP_060585	Q9NVU7	SDA1_HUMAN	Homo sapiens SDA1 domain containing 1 (SDAD1), mRNA.	293					protein transport|ribosomal large subunit biogenesis	nucleolus	protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	19			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			ACGTACCTTGGGGATCATGAA	0.398000														25			39		0	0	0.010771	0	0
TCRBV12S3	0	broad.mit.edu	37	7	142206592	142206592	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:142206592G>A	uc003vyj.2	-	1	310	c.263C>T	c.(262-264)tCc>tTc	p.S88F	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|BV13S6J2.1_uc011krx.2_Intron|BV13S6J2.1_uc011ksa.2_Intron					SubName: Full=V_segment translation product; Flags: Fragment;																		CTCTGTCTTGGATCTGGAGAC	0.527000														60			87		0	0	0.014410	0	0
DNAH5	1767	broad.mit.edu	37	5	13841969	13841969	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:13841969C>T	uc003jfd.2	-	32	5358	c.5316G>A	c.(5314-5316)acG>acA	p.T1772T		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	1772	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CCAATTCAATCGTCTCACCCT	0.353000									Kartagener syndrome					50			25		0	0	0.006320	0	0
RREB1	6239	broad.mit.edu	37	6	7247268	7247268	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr6:7247268C>T	uc003mxb.3	+	11	5077	c.4585C>T	c.(4585-4587)Ccc>Tcc	p.P1529S	RREB1_uc021yky.1_Missense_Mutation_p.P1474S|RREB1_uc003mxc.3_Missense_Mutation_p.P1474S|RREB1_uc010jnx.3_Intron|RREB1_uc021ykz.1_Intron|RREB1_uc021yla.1_Intron	NM_001003699	NP_001003699	Q92766	RREB1_HUMAN	Homo sapiens ras responsive element binding protein 1 (RREB1), transcript variant 1, mRNA.	1474					Ras protein signal transduction|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				GACGGAGGGCCCCTCCGACGG	0.677000														11			11		0	0	0.008291	0	0
MATN4	8785	broad.mit.edu	37	20	43933247	43933247	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr20:43933247G>A	uc002xnn.2	-	2	451	c.264C>T	c.(262-264)ctC>ctT	p.L88L	MATN4_uc002xnp.2_Silent_p.L88L|MATN4_uc002xno.2_Silent_p.L88L|MATN4_uc010zwr.1_Silent_p.L36L|MATN4_uc002xnr.1_Silent_p.L88L|RBPJL_uc002xns.3_5'Flank|RBPJL_uc002xnt.3_5'Flank	NM_003833	NP_003824	O95460	MATN4_HUMAN	Homo sapiens matrilin 4 (MATN4), transcript variant 1, mRNA.	88	VWFA 1.					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)				AGAACGCGCGGAGAGGGAAGA	0.642000														20			12		0	0	0.004007	0	0
NLRP9	338321	broad.mit.edu	37	19	56244308	56244308	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:56244308C>T	uc002qly.3	-	1	917	c.889G>A	c.(889-891)Gga>Aga	p.G297R		NM_176820	NP_789790	Q7RTR0	NALP9_HUMAN	Homo sapiens NLR family, pyrin domain containing 9 (NLRP9), mRNA.	297	NACHT.					cytoplasm	ATP binding	p.G297*(2)		NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		TCACTGAATCCTAAGAGCTTT	0.393000														36			27		0	0	0.005443	0	0
LRRC4C	57689	broad.mit.edu	37	11	40136969	40136969	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:40136969G>A	uc021qgf.1	-	0	874	c.874C>T	c.(874-876)Cat>Tat	p.H292Y	LRRC4C_uc001mxc.1_Missense_Mutation_p.H288Y|LRRC4C_uc001mxd.1_Missense_Mutation_p.H288Y|LRRC4C_uc001mxa.1_Missense_Mutation_p.H292Y|LRRC4C_uc001mxb.1_Missense_Mutation_p.H288Y	NM_020929	NP_065980	Q9HCJ2	LRC4C_HUMAN	Homo sapiens leucine rich repeat containing 4C (LRRC4C), mRNA.	292					regulation of axonogenesis	integral to membrane	protein binding	p.H291H(1)		NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				CGCTCTAGATGATGCAAGGGA	0.468000														55			55		0	0	0.014410	0	0
RILPL2	196383	broad.mit.edu	37	12	123915204	123915204	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:123915204C>T	uc001uey.1	-	1	639	c.342G>A	c.(340-342)gtG>gtA	p.V114V		NM_145058	NP_659495	Q969X0	RIPL2_HUMAN	Homo sapiens Rab interacting lysosomal protein-like 2 (RILPL2), mRNA.	114						cytosol|plasma membrane	identical protein binding			endometrium(1)|large_intestine(2)|lung(2)|skin(1)	6	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000546)|Epithelial(86;0.00179)|all cancers(50;0.0168)		GGCCCAGGTTCACCTGGAAGA	0.443000														33			25		0	0	0.004656	0	0
DNAH10	196385	broad.mit.edu	37	12	124371737	124371737	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:124371737G>A	uc001uft.4	+	50	8543	c.8518G>A	c.(8518-8520)Gaa>Aaa	p.E2840K		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	2840	AAA 4 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CAGTTTCCGGGAAGACCTGAA	0.547000														9			22		0	0	0.014323	0	0
LCE1B	353132	broad.mit.edu	37	1	152784973	152784973	+	Missense_Mutation	SNP	C	G	G			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:152784973C>G	uc001faq.3	+	0	527	c.51C>G	c.(49-51)atC>atG	p.I17M		NM_178349	NP_848126	Q5T7P3	LCE1B_HUMAN	Homo sapiens late cornified envelope 1B (LCE1B), mRNA.	17	Pro-rich.				keratinization					breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|skin(2)	18	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			ccaagtgcatccccaagtgcc	0.602000														2			144		0	0	0.014410	0	0
XIST	7503	broad.mit.edu	37	X	73072336	73072336	+	RNA	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:73072336C>T	uc004ebm.1	-	0		c.253G>A								Homo sapiens X (inactive)-specific transcript (non-protein coding) (XIST), non-coding RNA.																		CAAAATATTCCAAATACTTTC	0.264000														19			5		0	0	0.000602	0	0
ZXDB	158586	broad.mit.edu	37	X	57619480	57619480	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:57619480C>T	uc004dvd.3	+	0	1212	c.999C>T	c.(997-999)ccC>ccT	p.P333P		NM_007157	NP_009088	P98169	ZXDB_HUMAN	Homo sapiens zinc finger, X-linked, duplicated B (ZXDB), mRNA.	333	Required for interaction with ZXDC (By similarity).				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						AACTGCGGCCCTTTGGCTGCC	0.597000														13			19		0	0	0.008871	0	0
BCAS3	54828	broad.mit.edu	37	17	59067440	59067440	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr17:59067440C>T	uc002iyv.4	+	14	1439	c.1330C>T	c.(1330-1332)Cgt>Tgt	p.R444C	BCAS3_uc010wow.1_Missense_Mutation_p.R231C|BCAS3_uc002iyu.4_Missense_Mutation_p.R444C|BCAS3_uc002iyw.4_Missense_Mutation_p.R440C|BCAS3_uc002iyx.1_Missense_Mutation_p.R259C|BCAS3_uc002iyy.4_Missense_Mutation_p.R215C|BCAS3_uc002iyz.4_5'UTR|BCAS3_uc002iza.4_5'UTR	NM_001099432	NP_001092902	Q9H6U6	BCAS3_HUMAN	Homo sapiens breast carcinoma amplified sequence 3 (BCAS3), transcript variant 1, mRNA.	444						nucleus				NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			GCCTTGTGTTCGTACACATAT	0.512000														29			25		0	0	0.002780	0	0
RYR2	6262	broad.mit.edu	37	1	237995876	237995876	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:237995876C>T	uc001hyl.1	+	104	14953	c.14833C>T	c.(14833-14835)Caa>Taa	p.Q4945*	RYR2_uc010pyb.1_3'UTR	NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	4945					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.R4945S(2)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GAAGATGTATCAAGAAAGGTG	0.383000														4			47		0	0	0.014410	0	0
CLVS1	157807	broad.mit.edu	37	8	62289259	62289259	+	Missense_Mutation	SNP	T	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr8:62289259T>A	uc003xuh.3	+	2	875	c.551T>A	c.(550-552)aTa>aAa	p.I184K	CLVS1_uc003xug.2_3'UTR|CLVS1_uc003xui.3_Non-coding_Transcript	NM_173519	NP_775790	Q8IUQ0	CLVS1_HUMAN	Homo sapiens clavesin 1 (CLVS1), mRNA.	184	CRAL-TRIO.				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						ATTTTAATTATAGACTGGAGT	0.428000														30			36		0	0	0.004878	0	0
SLC1A6	6511	broad.mit.edu	37	19	15072875	15072875	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:15072875G>A	uc002naa.1	-	4	881	c.874C>T	c.(874-876)Ctc>Ttc	p.L292F	SLC1A6_uc010dzu.1_Missense_Mutation_p.L292F|SLC1A6_uc010xod.1_Missense_Mutation_p.L228F|SLC1A6_uc002nab.3_Missense_Mutation_p.L292F|SLC1A6_uc002nac.3_Missense_Mutation_p.L292F	NM_005071	NP_005062	P48664	EAA4_HUMAN	Homo sapiens solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6 (SLC1A6), mRNA.	292					synaptic transmission	integral to plasma membrane|membrane fraction	L-aspartate transmembrane transporter activity|high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42					L-Glutamic Acid(DB00142)	AAGTCCCTGAGGACTCTGCCC	0.582000														44			49		0	0	0.014410	0	0
ZFP112	7771	broad.mit.edu	37	19	44890838	44890838	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:44890838C>T	uc010xxa.2	-	3	1633	c.1590G>A	c.(1588-1590)cgG>cgA	p.R530R	ZFP112_uc010xwz.2_Intron|ZFP112_uc002ozd.4_Silent_p.R523R	NM_152354	NP_689567	Q9UJU3	ZF112_HUMAN	Homo sapiens zinc finger protein 285 (ZNF285), mRNA.	816					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(1)|lung(8)|ovary(3)|prostate(4)|skin(3)	41						GATCTGAATTCCGGCTGAAGC	0.413000														34			31		0	0	0.012213	0	0
OR6F1	343169	broad.mit.edu	37	1	247875848	247875848	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:247875848C>T	uc001idj.1	-	0	210	c.210G>A	c.(208-210)gaG>gaA	p.E70E		NM_001005286	NP_001005286	Q8NGZ6	OR6F1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily F, member 1 (OR6F1), mRNA.	70					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E70*(1)		breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-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)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			TATACCAAATCTCCAGGAAGG	0.473000														2			130		0	0	0.014410	0	0
SLC12A6	9990	broad.mit.edu	37	15	34536215	34536215	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr15:34536215G>A	uc001zhw.3	-	14	2166	c.2002C>T	c.(2002-2004)Cga>Tga	p.R668*	SLC12A6_uc001zhv.3_Nonsense_Mutation_p.R617*|SLC12A6_uc001zhz.3_Non-coding_Transcript|SLC12A6_uc001zhx.3_Nonsense_Mutation_p.R653*|SLC12A6_uc001zhy.3_Non-coding_Transcript|SLC12A6_uc001zia.3_Nonsense_Mutation_p.R609*|SLC12A6_uc001zib.3_Nonsense_Mutation_p.R659*|SLC12A6_uc001zic.3_Nonsense_Mutation_p.R668*|SLC12A6_uc010bau.3_Nonsense_Mutation_p.R668*|SLC12A6_uc001zid.3_Nonsense_Mutation_p.R609*|SLC12A6_uc001zht.3_Non-coding_Transcript|SLC12A6_uc001zhu.3_Nonsense_Mutation_p.R480*	NM_133647	NP_598408	Q9UHW9	S12A6_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 6 (SLC12A6), transcript variant 1, mRNA.	668					angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport	basolateral plasma membrane|integral to membrane	potassium:chloride symporter activity			central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	TTGGGTGTTCGAAGTAATGTT	0.393000														49			53		0	0	0.014410	0	0
UGT2B7	7364	broad.mit.edu	37	4	69964335	69964335	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr4:69964335C>T	uc003heg.4	+	1	845	c.799C>T	c.(799-801)Cca>Tca	p.P267S	UGT2B7_uc010ihq.3_Missense_Mutation_p.P267S	NM_001074	NP_001065	P16662	UD2B7_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B7 (UGT2B7), mRNA.	267					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	p.P267P(1)		autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TTTTCAGTTTCCATATCCACT	0.393000														132			57		0	0	0.014410	0	0
DNAH7	56171	broad.mit.edu	37	2	196722110	196722110	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:196722110G>A	uc002utj.4	-	43	8506	c.8405C>T	c.(8404-8406)tCa>tTa	p.S2802L		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	2802	Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CTTATCATATGAATCCATTGC	0.343000														37			40		0	0	0.009718	0	0
EYS	346007	broad.mit.edu	37	6	66044932	66044932	+	Missense_Mutation	SNP	A	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr6:66044932A>T	uc011dxu.1	-	10	2245	c.1707T>A	c.(1705-1707)gaT>gaA	p.D569E	EYS_uc003peq.3_Missense_Mutation_p.D569E|EYS_uc003per.1_Missense_Mutation_p.D569E|EYS_uc021zbn.1_Missense_Mutation_p.D569E	NM_001142800	NP_001136272	Q5T1H1	EYS_HUMAN	Homo sapiens eyes shut homolog (Drosophila) (EYS), transcript variant 1, mRNA.	569	EGF-like 6.				response to stimulus|visual perception	extracellular region	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						TTTCTTGATCATCAGTTGTAT	0.348000														2			27		0	0	0.003954	0	0
TBC1D8B	54885	broad.mit.edu	37	X	106066550	106066550	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:106066550G>A	uc004emo.3	+	4	846	c.681G>A	c.(679-681)gaG>gaA	p.E227E	MORC4_uc004emp.4_Intron|TBC1D8B_uc004emm.3_Silent_p.E227E|TBC1D8B_uc004emn.3_Silent_p.E227E	NM_017752	NP_060222	Q0IIM8	TBC8B_HUMAN	Homo sapiens TBC1 domain family, member 8B (with GRAM domain) (TBC1D8B), transcript variant 1, mRNA.	227						intracellular	Rab GTPase activator activity|calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						CCCAAGGAGAGAATCACTACT	0.363000														53			29		0	0	0.010818	0	0
BOD1	91272	broad.mit.edu	37	5	173040185	173040185	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:173040185G>A	uc003mcq.2	-	1	538	c.311C>T	c.(310-312)cCt>cTt	p.P104L	BOD1_uc003mcr.2_Missense_Mutation_p.P104L	NM_138369	NP_612378	Q96IK1	BOD1_HUMAN	Homo sapiens biorientation of chromosomes in cell division 1 (BOD1), transcript variant 1, mRNA.	104					cell division|mitosis	condensed chromosome kinetochore|microtubule organizing center				endometrium(1)|large_intestine(2)|lung(2)|ovary(2)	7						GTTCATCGTAGGATTCCATTC	0.413000														67			66		0	0	0.014410	0	0
CCDC8	83987	broad.mit.edu	37	19	46914618	46914618	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:46914618C>T	uc002pep.3	-	0	2302	c.1450G>A	c.(1450-1452)Gga>Aga	p.G484R		NM_032040	NP_114429	Q9H0W5	CCDC8_HUMAN	Homo sapiens coiled-coil domain containing 8 (CCDC8), mRNA.	484						plasma membrane		p.P483T(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)		GAAAAGCGTCCAGGGGTCTGG	0.612000														27			28		0	0	0.006320	0	0
DCC	1630	broad.mit.edu	37	18	50278518	50278518	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr18:50278518C>T	uc002lfe.2	+	1	802	c.186C>T	c.(184-186)tcC>tcT	p.S62S	DCC_uc010xdr.1_5'UTR	NM_005215	NP_005206	P43146	DCC_HUMAN	Homo sapiens deleted in colorectal carcinoma (DCC), mRNA.	62	Ig-like C2-type 1.				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)		TCGACTGCTCCGCGGAGTCCG	0.502000														21			20		0	0	0.008871	0	0
LRRC3B	116135	broad.mit.edu	37	3	26751195	26751195	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:26751195C>T	uc003cdp.3	+	1	621	c.32C>T	c.(31-33)tCc>tTc	p.S11F	LRRC3B_uc003cdq.3_Missense_Mutation_p.S11F|LRRC3B_uc021wuj.1_Missense_Mutation_p.S11F	NM_052953	NP_443185	Q96PB8	LRC3B_HUMAN	Homo sapiens leucine rich repeat containing 3B (LRRC3B), mRNA.	11						integral to membrane		p.R10H(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	21						TTAACCCGTTCCCTCTCCATG	0.478000														74			60		0	0	0.014410	0	0
KIAA1217	56243	broad.mit.edu	37	10	24669980	24669980	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr10:24669980G>A	uc001iru.4	+	2	940	c.537G>A	c.(535-537)acG>acA	p.T179T	KIAA1217_uc001irs.3_Silent_p.T99T|KIAA1217_uc001irt.4_Silent_p.T179T|KIAA1217_uc010qcy.2_Silent_p.T179T|KIAA1217_uc010qcz.2_Silent_p.T179T|KIAA1217_uc001irv.1_Silent_p.T29T|KIAA1217_uc010qda.1_Non-coding_Transcript	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA.	179					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						CCAACCAGACGAAAGAAAGAT	0.478000														35			25		0	0	0.004656	0	0
FASN	2194	broad.mit.edu	37	17	80046411	80046411	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr17:80046411G>A	uc002kdu.3	-	15	2565	c.2448C>T	c.(2446-2448)ttC>ttT	p.F816F	FASN_uc002kdw.1_Silent_p.F32F	NM_004104	NP_004095	P49327	FAS_HUMAN	Homo sapiens fatty acid synthase (FASN), mRNA.	816	Acyl and malonyl transferases (By similarity).				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	Golgi apparatus|cytosol|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	CCACAGGTGGGAACAAGGCAT	0.657000														22			18		0	0	0.014323	0	0
NFKB1	4790	broad.mit.edu	37	4	103534712	103534712	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr4:103534712C>T	uc011ceq.2	+	22	3187	c.2720C>T	c.(2719-2721)tCg>tTg	p.S907L	NFKB1_uc011cep.2_Missense_Mutation_p.S908L|NFKB1_uc011cer.2_Missense_Mutation_p.S727L	NM_001165412	NP_001158884	P19838	NFKB1_HUMAN	Homo sapiens nuclear factor of kappa light polypeptide gene enhancer in B-cells 1 (NFKB1), transcript variant 2, mRNA.	907	Interaction with CFLAR.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T cell receptor signaling pathway|Toll signaling pathway|anti-apoptosis|apoptosis|cellular response to mechanical stimulus|inflammatory response|innate immune response|membrane protein intracellular domain proteolysis|negative regulation of calcidiol 1-monooxygenase activity|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of transcription, DNA-dependent|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter	I-kappaB/NF-kappaB complex|cytosol|mitochondrion|nucleoplasm	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			biliary_tract(1)|breast(4)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.59e-08)	Dexamethasone(DB01234)|Pranlukast(DB01411)|Thalidomide(DB01041)	CTGCCTCTCTCGCCTGCCTCC	0.527000														18			15		0	0	0.007413	0	0
SLC28A2	9153	broad.mit.edu	37	15	45559899	45559899	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr15:45559899G>A	uc001zva.2	+	11	1169	c.1104G>A	c.(1102-1104)atG>atA	p.M368I		NM_004212	NP_004203	O43868	S28A2_HUMAN	Homo sapiens solute carrier family 28 (sodium-coupled nucleoside transporter), member 2 (SLC28A2), mRNA.	368					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding|nucleoside:sodium symporter activity|purine nucleoside transmembrane transporter activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(4)|skin(1)	26		all_cancers(109;8.53e-07)|all_epithelial(112;1.39e-05)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06)		CCTCTGTGATGGCCGCCCCTT	0.552000														62			52		0	0	0.014410	0	0
DSC2	1824	broad.mit.edu	37	18	28648096	28648096	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr18:28648096G>A	uc002kwl.4	-	15	3045	c.2591C>T	c.(2590-2592)tCg>tTg	p.S864L	DSC2_uc002kwk.4_3'UTR	NM_024422	NP_077740	Q02487	DSC2_HUMAN	Homo sapiens desmocollin 2 (DSC2), transcript variant Dsc2a, mRNA.	864					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			CCCAGCCACCGATCCTCTTCC	0.423000														46			28		0	0	0.005443	0	0
PRPS2	5634	broad.mit.edu	37	X	12827410	12827410	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:12827410G>A	uc004cva.3	+	2	516	c.373G>A	c.(373-375)Gat>Aat	p.D125N	PRPS2_uc004cvb.3_Missense_Mutation_p.D122N|PRPS2_uc010nec.3_Missense_Mutation_p.D58N	NM_001039091	NP_001034180	P11908	PRPS2_HUMAN	Homo sapiens phosphoribosyl pyrophosphate synthetase 2 (PRPS2), transcript variant 1, mRNA.	122					nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1)	16						GGCTGGGGCGGATCACATCAT	0.398000														75			59		0	0	0.014410	0	0
BAAT	570	broad.mit.edu	37	9	104133497	104133497	+	Missense_Mutation	SNP	A	G	G			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr9:104133497A>G	uc010mtd.3	-	1	299	c.190T>C	c.(190-192)Tct>Cct	p.S64P	BAAT_uc004bbd.4_Missense_Mutation_p.S64P	NM_001127610	NP_001692	Q14032	BAAT_HUMAN	Homo sapiens bile acid CoA: amino acid N-acyltransferase (glycine N-choloyltransferase) (BAAT), transcript variant 2, mRNA.	64					acyl-CoA metabolic process|bile acid and bile salt transport|bile acid biosynthetic process|digestion|fatty acid metabolic process|glycine metabolic process	cytosol|peroxisomal matrix	N-acyltransferase activity|carboxylesterase activity|glycine N-choloyltransferase activity|palmitoyl-CoA hydrolase activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		Acute lymphoblastic leukemia(62;0.0559)			Glycine(DB00145)	CCAAGTGAAGAAGCATGATTC	0.443000														6			39		0	0	0.007835	0	0
LRRC46	90506	broad.mit.edu	37	17	45911879	45911879	+	Missense_Mutation	SNP	C	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr17:45911879C>A	uc002ima.3	+	2	568	c.205C>A	c.(205-207)Cac>Aac	p.H69N	MRPL10_uc002ily.3_5'Flank|MRPL10_uc002ilz.3_5'Flank|MRPL10_uc010wky.2_5'Flank|LRRC46_uc002imb.3_5'UTR	NM_033413	NP_219481	Q96FV0	LRC46_HUMAN	Homo sapiens leucine rich repeat containing 46 (LRRC46), mRNA.	69										endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)	9						CCAGAATCTTCACAGTCTCTA	0.517000														49			33		3.67414e-24	4.99158e-24	0.012213	1	0
COL11A1	1301	broad.mit.edu	37	1	103385916	103385916	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:103385916G>A	uc001dum.3	-	48	4067	c.3749C>T	c.(3748-3750)cCa>cTa	p.P1250L	COL11A1_uc001duk.3_Missense_Mutation_p.P434L|COL11A1_uc001dul.3_Missense_Mutation_p.P1238L|COL11A1_uc001dun.3_Missense_Mutation_p.P1199L|COL11A1_uc009weh.3_Missense_Mutation_p.P1122L	NM_080629	NP_542196	P12107	COBA1_HUMAN	Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript variant B, mRNA.	1238	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		GGGTCCTTGTGGTCCCTGCAG	0.358000														12			140		0	0	0.014410	0	0
CARD11	84433	broad.mit.edu	37	7	2962334	2962334	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:2962334C>T	uc003smv.3	-	16	2537	c.2203G>A	c.(2203-2205)Gaa>Aaa	p.E735K		NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN	Homo sapiens caspase recruitment domain family, member 11 (CARD11), mRNA.	735	PDZ.				T cell costimulation|T cell receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of cytokine production|regulation of apoptosis	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		CAGTGGGCTTCCTCTTTGGTG	0.617000			Mis		DLBCL									41			28		0	0	0.008361	0	0
OR6T1	219874	broad.mit.edu	37	11	123814495	123814495	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:123814495G>A	uc010sab.2	-	0	51	c.51C>T	c.(49-51)ttC>ttT	p.F17F		NM_001005187	NP_001005187	Q8NGN1	OR6T1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily T, member 1 (OR6T1), mRNA.	17					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		GGCTACTGGGGAAACCCAGAA	0.473000														7			43		0	0	0.011902	0	0
GRM3	2913	broad.mit.edu	37	7	86394884	86394884	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:86394884C>T	uc003uid.3	+	1	1522	c.423C>T	c.(421-423)ctC>ctT	p.L141L	GRM3_uc010lef.3_Silent_p.L139L|GRM3_uc010leg.3_Intron|GRM3_uc010leh.3_Intron	NM_000840	NP_000831	Q14832	GRM3_HUMAN	Homo sapiens glutamate receptor, metabotropic 3 (GRM3), mRNA.	141					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	TCCCACTTCTCATTGCAGGGG	0.413000														46			25		0	0	0.005443	0	0
AFF2	2334	broad.mit.edu	37	X	148044272	148044272	+	Missense_Mutation	SNP	A	C	C			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:148044272A>C	uc004fcp.3	+	12	3197	c.2718A>C	c.(2716-2718)agA>agC	p.R906S	AFF2_uc004fcq.3_Missense_Mutation_p.R896S|AFF2_uc004fcr.3_Missense_Mutation_p.R867S|AFF2_uc011mxb.2_Missense_Mutation_p.R871S|AFF2_uc004fcs.3_Missense_Mutation_p.R873S|AFF2_uc011mxc.2_Missense_Mutation_p.R547S	NM_002025	NP_002016	P51816	AFF2_HUMAN	Homo sapiens AF4/FMR2 family, member 2 (AFF2), transcript variant 1, mRNA.	906					RNA splicing|brain development|mRNA processing|regulation of RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					GAGCAAATAGAAGAAAGGAAG	0.433000														15			28		0	0	0.007291	0	0
DUOX2	50506	broad.mit.edu	37	15	45387155	45387155	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr15:45387155G>A	uc001zun.3	-	31	4577	c.4374C>T	c.(4372-4374)ttC>ttT	p.F1458F	DUOX2_uc010bea.3_Silent_p.F1458F	NM_014080	NP_054799	Q9NRD8	DUOX2_HUMAN	Homo sapiens dual oxidase 2 (DUOX2), mRNA.	1458					cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	NAD(P)H oxidase activity|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|peroxidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		TCCTGAGGTCGAACTTCTCAG	0.587000														28			26		0	0	0.009535	0	0
CSF1R	1436	broad.mit.edu	37	5	149457749	149457749	+	Missense_Mutation	SNP	C	G	G			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:149457749C>G	uc003lrl.3	-	3	850	c.655G>C	c.(655-657)Gct>Cct	p.A219P	CSF1R_uc011dcd.2_Missense_Mutation_p.A71P|CSF1R_uc010jhc.3_Non-coding_Transcript|CSF1R_uc003lrm.3_Missense_Mutation_p.A219P|CSF1R_uc011dce.1_Missense_Mutation_p.A219P|CSF1R_uc011dcf.2_Missense_Mutation_p.A219P	NM_005211	NP_005202	P07333	CSF1R_HUMAN	Homo sapiens colony stimulating factor 1 receptor (CSF1R), mRNA.	219	Ig-like C2-type 3.				cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	ATCTGGGCAGCCTCCCCTCGA	0.592000														42			38		0	0	0.003755	0	0
LILRB3	11025	broad.mit.edu	37	19	54803190	54803190	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:54803190C>T	uc002qfd.3	-	3	579	c.487G>A	c.(487-489)Gaa>Aaa	p.E163K	LILRB3_uc002qew.2_Intron|LILRB3_uc010erk.3_Intron	NM_006865	NP_006856	O75022	LIRB3_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3 (LILRA3), transcript variant 1, mRNA.	162	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	transmembrane receptor activity			endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TGTGGGTGTTCATCTTCTCCT	0.577000														46			47		0	0	0.014410	0	0
OR2C3	81472	broad.mit.edu	37	1	247695083	247695083	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:247695083G>A	uc021pmb.1	-	0	731	c.731C>T	c.(730-732)tCc>tTc	p.S244F	C1orf150_uc009xgw.3_Intron|C1orf150_uc001ida.4_Intron|C1orf150_uc001idb.4_Intron|C1orf150_uc009xgx.3_Intron|OR2C3_uc001idd.3_5'Flank|OR2C3_uc009xgy.3_Missense_Mutation_p.S244F	NM_198074	NP_932340	Q8N628	OR2C3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily C, member 3 (OR2C3), mRNA.	244					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)			AGCCACGTGGGAAGAACAGGT	0.557000														74			56		0	0	0.014410	0	0
PRR23C	389152	broad.mit.edu	37	3	138762818	138762818	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:138762818G>A	uc011bmt.1	-	0	917	c.645C>T	c.(643-645)ttC>ttT	p.F215F		NM_001134657	NP_001128129	Q6ZRP0	PR23C_HUMAN	Homo sapiens proline rich 23C (PRR23C), mRNA.	215	Pro-rich.									breast(2)|lung(7)|skin(2)	11						ATTCCAGGTCGAAGATGGGGC	0.647000														6			6		0	0	0.001984	0	0
DACH1	1602	broad.mit.edu	37	13	72255972	72255972	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr13:72255972G>A	uc021rkj.1	-	1	1348	c.925C>T	c.(925-927)Cat>Tat	p.H309Y	DACH1_uc021rkk.1_Missense_Mutation_p.H309Y|DACH1_uc021rkl.1_Missense_Mutation_p.H309Y	NM_080759	NP_542937	Q9UI36	DACH1_HUMAN	Homo sapiens dachshund homolog 1 (Drosophila) (DACH1), transcript variant 1, mRNA.	307	Interaction with SIX6 and HDAC3 (By similarity).				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		GGGACAGAATGCGGCATGATG	0.423000														32			28		0	0	0.012213	0	0
FAM83B	222584	broad.mit.edu	37	6	54805839	54805839	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr6:54805839G>A	uc003pck.3	+	4	2186	c.2070G>A	c.(2068-2070)agG>agA	p.R690R		NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN	Homo sapiens family with sequence similarity 83, member B (FAM83B), mRNA.	690										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					CACTTACCAGGAATCGAGTTA	0.383000														35			34		0	0	0.003755	0	0
GDPD5	81544	broad.mit.edu	37	11	75153561	75153561	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:75153561G>A	uc001owo.4	-	12	1551	c.1014C>T	c.(1012-1014)tcC>tcT	p.S338S	GDPD5_uc001owp.4_Silent_p.S338S|GDPD5_uc001own.4_Silent_p.S93S|GDPD5_uc009yuc.3_Silent_p.S200S|GDPD5_uc009yud.3_Silent_p.S219S	NM_030792	NP_110419	Q8WTR4	GDPD5_HUMAN	Homo sapiens glycerophosphodiester phosphodiesterase domain containing 5 (GDPD5), mRNA.	338	GDPD.				glycerol metabolic process|lipid metabolic process|nervous system development	endomembrane system|growth cone|integral to membrane|perinuclear region of cytoplasm	glycerophosphodiester phosphodiesterase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|skin(2)	20						GGCTGCAGATGGACTGGTTCT	0.642000														19			12		0	0	0.002450	0	0
OR1J1	347168	broad.mit.edu	37	9	125239349	125239349	+	Missense_Mutation	SNP	T	C	C			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr9:125239349T>C	uc011lyu.2	-	0	857	c.857A>G	c.(856-858)aAc>aGc	p.N286S	OR1J2_uc004bmj.2_Intron	NM_001004451	NP_001004451	Q8NGS3	OR1J1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily J, member 1 (OR1J1), mRNA.	286					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.N286K(1)		endometrium(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	16						AATGAATGGGTTCAACATGGG	0.428000														4			52		0	0	0.014410	0	0
SORCS3	22986	broad.mit.edu	37	10	106918692	106918693	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr10:106918692_106918693CC>TT	uc001kyi.1	+	10	1899_1900	c.1672_1673CC>TT	c.(1672-1674)cca>TTa	p.P558L		NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 3 (SORCS3), mRNA.	558						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		CTCTGAAAATCCATATTCCTCA	0.450000														39			26		0	0	0.004672	0	0
ZFP161	7541	broad.mit.edu	37	18	5291185	5291185	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr18:5291185G>A	uc002kmq.3	-	3	1184	c.1022C>T	c.(1021-1023)tCa>tTa	p.S341L	ZFP161_uc002kmr.3_Missense_Mutation_p.S341L|ZFP161_uc010dkp.3_Missense_Mutation_p.S341L|ZFP161_uc021ugn.1_Missense_Mutation_p.S341L	NM_001243702	NP_001230631	O43829	ZF161_HUMAN	Homo sapiens zinc finger protein 161 homolog (mouse) (ZFP161), transcript variant 3, mRNA.	341					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.K340Q(1)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)	22						ACGGATAAATGATTTTCCACA	0.443000														40			44		0	0	0.009718	0	0
PLRG1	5356	broad.mit.edu	37	4	155461949	155461949	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr4:155461949G>A	uc003iny.3	-	8	950	c.825C>T	c.(823-825)ctC>ctT	p.L275L	PLRG1_uc003inz.3_Silent_p.L266L|PLRG1_uc011cil.2_Silent_p.L114L	NM_002669	NP_002660	O43660	PLRG1_HUMAN	Homo sapiens pleiotropic regulator 1 (PLRG1), transcript variant 1, mRNA.	275						catalytic step 2 spliceosome|nuclear speck	protein binding|signal transducer activity|transcription corepressor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|skin(1)|urinary_tract(1)	22	all_hematologic(180;0.215)	Renal(120;0.0854)				TATTGTATTCGAGATCCCAGC	0.373000														38			47		0	0	0.014410	0	0
UBL7	84993	broad.mit.edu	37	15	74741678	74741678	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr15:74741678G>A	uc002axw.1	-	8	893	c.731C>T	c.(730-732)cCc>cTc	p.P244L	UBL7_uc002axx.1_Missense_Mutation_p.P284L|UBL7_uc002axy.1_Missense_Mutation_p.P244L|UBL7_uc002axz.1_Missense_Mutation_p.P244L	NM_032907	NP_957717	Q96S82	UBL7_HUMAN	Homo sapiens ubiquitin-like 7 (bone marrow stromal cell-derived) (UBL7), transcript variant 1, mRNA.	244							protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9						ACTGCTAGAGGGTGTGGACCT	0.597000														10			8		0	0	0.004482	0	0
OR4M2	390538	broad.mit.edu	37	15	22369074	22369074	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr15:22369074C>T	uc010tzu.2	+	0	597	c.499C>T	c.(499-501)Cct>Tct	p.P167S	abParts_uc001yuj.2_Intron|OR4N4_uc001yua.3_Intron|OR4N4_uc001yub.1_Intron|OR4N4_uc001yuc.1_Intron	NM_001004719	NP_001004719	Q8NGB6	OR4M2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily M, member 2 (OR4M2), mRNA.	167					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P167A(2)		NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TGTTCGACTTCCTTTCTGTGG	0.493000														134			76		0	0	0.014410	0	0
FAM75A6	389730	broad.mit.edu	37	9	43627116	43627116	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr9:43627116G>A	uc011lrb.2	-	3	1600	c.1571C>T	c.(1570-1572)tCg>tTg	p.S524L		NM_001145196	NP_001138668	Q5VVP1	F75A6_HUMAN	Homo sapiens family with sequence similarity 75, member A6 (FAM75A6), mRNA.	524						integral to membrane				breast(2)|endometrium(3)|kidney(4)|lung(36)|prostate(4)|skin(2)|soft_tissue(1)|stomach(1)|urinary_tract(1)	54						TTTATTCTGCGATGCAGGGCA	0.507000														15			135		0	0	0.014410	0	0
CSMD3	114788	broad.mit.edu	37	8	113316962	113316962	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr8:113316962G>A	uc003ynu.3	-	51	8413	c.8254C>T	c.(8254-8256)Cca>Tca	p.P2752S	CSMD3_uc003yns.3_Missense_Mutation_p.P1954S|CSMD3_uc003ynt.3_Missense_Mutation_p.P2712S|CSMD3_uc011lhx.2_Intron	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	2752	Sushi 16.					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						TGGCAATATGGTCTTTCATTT	0.373000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				29			21		0	0	0.002780	0	0
APBB1	322	broad.mit.edu	37	11	6424402	6424402	+	Silent	SNP	G	A	A	rs146910788		TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:6424402G>A	uc001mdb.1	-	5	1177	c.1077C>T	c.(1075-1077)ccC>ccT	p.P359P	APBB1_uc001mdd.3_Silent_p.P139P|APBB1_uc001mdc.1_Silent_p.P359P|APBB1_uc010rab.2_5'Flank|APBB1_uc010rad.2_5'Flank|APBB1_uc010rae.1_Silent_p.P124P|APBB1_uc009yey.2_Silent_p.P100P|APBB1_uc009yfa.2_Silent_p.P100P|APBB1_uc010rag.1_Silent_p.P100P|APBB1_uc009yfb.2_Silent_p.P100P|APBB1_uc001mde.2_Silent_p.P100P|APBB1_uc010rah.1_Silent_p.P100P	NM_001164	NP_001155	O00213	APBB1_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65) (APBB1), transcript variant 1, mRNA.	359					apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of S phase of mitotic cell cycle|negative regulation of cell growth|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent	cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse	beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		TATTCCGTGGGGGAAGCTTCT	0.547000														52			34		0	0	0.004289	0	0
PPP1R2P3	153743	broad.mit.edu	37	5	156277799	156277799	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:156277799C>T	uc003lwf.1	+	0	251	c.226C>T	c.(226-228)Cat>Tat	p.H76Y						Homo sapiens protein phosphatase 1, regulatory (inhibitor) subunit 2 pseudogene 3 (PPP1R2P3), non-coding RNA.									p.H76N(1)									CCCTCCTTACCATAGTATGAT	0.463000														7			9		0	0	0.004482	0	0
ENGASE	64772	broad.mit.edu	37	17	77082359	77082359	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr17:77082359C>T	uc002jwv.3	+	13	2168	c.2160C>T	c.(2158-2160)gtC>gtT	p.V720V	ENGASE_uc002jww.3_Silent_p.V425V	NM_001042573	NP_001036038	Q8NFI3	ENASE_HUMAN	Homo sapiens endo-beta-N-acetylglucosaminidase (ENGASE), mRNA.	720						cytosol	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity			breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1)	25						TGGAGCCTGTCCCCAAGGAAG	0.632000														27			15		0	0	0.003163	0	0
TAS1R2	80834	broad.mit.edu	37	1	19168269	19168269	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:19168269G>A	uc001bba.1	-	4	1546	c.1545C>T	c.(1543-1545)ttC>ttT	p.F515F		NM_152232	NP_689418	Q8TE23	TS1R2_HUMAN	Homo sapiens taste receptor, type 1, member 2 (TAS1R2), mRNA.	515					detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	CGATGCACTCGAAGCAGCAGA	0.597000														3			60		0	0	0.014410	0	0
LONRF2	164832	broad.mit.edu	37	2	100903486	100903486	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:100903486C>T	uc002tal.4	-	10	2600	c.1960G>A	c.(1960-1962)Gat>Aat	p.D654N	LONRF2_uc010yvs.2_Non-coding_Transcript	NM_198461	NP_940863	Q1L5Z9	LONF2_HUMAN	Homo sapiens LON peptidase N-terminal domain and ring finger 2 (LONRF2), mRNA.	654	Lon.				proteolysis		ATP-dependent peptidase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	34						TGCACAGAATCGTGGAGAGCG	0.478000														12			17		0	0	0.004007	0	0
MCTP2	55784	broad.mit.edu	37	15	94910902	94910902	+	Missense_Mutation	SNP	G	C	C			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr15:94910902G>C	uc002btj.3	+	9	1435	c.1370G>C	c.(1369-1371)tGt>tCt	p.C457S	MCTP2_uc002bti.2_Missense_Mutation_p.C457S|MCTP2_uc010boj.3_Missense_Mutation_p.C186S|MCTP2_uc010bok.3_Missense_Mutation_p.C457S|MCTP2_uc002btk.4_Missense_Mutation_p.C45S|MCTP2_uc002btl.3_Missense_Mutation_p.C45S	NM_018349	NP_060819	Q6DN12	MCTP2_HUMAN	Homo sapiens multiple C2 domains, transmembrane 2 (MCTP2), transcript variant 1, mRNA.	457					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			CTGGACAGCTGTCTGGGGGCT	0.527000														84			9		0	0	0.006214	0	0
ZFAND4	93550	broad.mit.edu	37	10	46159002	46159002	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr10:46159002G>A	uc001jcp.4	-	1	414	c.172C>T	c.(172-174)Cga>Tga	p.R58*	ZFAND4_uc001jcm.4_Nonsense_Mutation_p.R58*|ZFAND4_uc009xmu.3_5'UTR|ZFAND4_uc001jcn.4_5'UTR|ZFAND4_uc001jco.4_Nonsense_Mutation_p.R58*|ZFAND4_uc001jcq.2_Non-coding_Transcript|ZFAND4_uc001jcr.2_Nonsense_Mutation_p.R58*	NM_001128324	NP_777550	Q86XD8	ANUB1_HUMAN	Homo sapiens zinc finger, AN1-type domain 4 (ZFAND4), transcript variant 2, mRNA.	58	Ubiquitin-like.						zinc ion binding										TCCAATCTTCGAATTTTTGCT	0.308000														18			9		0	0	0.008291	0	0
abParts	0	broad.mit.edu	37	14	106733361	106733361	+	RNA	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr14:106733361C>T	uc021ser.1	-	876		c.21185G>A								Parts of antibodies, mostly variable regions.																		GAGGGTGTATCCGGAAACCTT	0.562000														81			67		0	0	0.014410	0	0
TCP11	6954	broad.mit.edu	37	6	35087959	35087959	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr6:35087959G>A	uc003okd.2	-	7	1312	c.1131C>T	c.(1129-1131)tcC>tcT	p.S377S	TCP11_uc003ojz.1_Silent_p.S302S|TCP11_uc003oka.2_Silent_p.S302S|TCP11_uc003okb.2_Silent_p.S301S|TCP11_uc011dsu.1_Silent_p.S359S|TCP11_uc003okc.2_Silent_p.S301S|TCP11_uc011dsv.1_Silent_p.S326S|TCP11_uc011dsw.1_Silent_p.S331S	NM_001093728	NP_001087197	Q8WWU5	TCP11_HUMAN	Homo sapiens t-complex 11 homolog (mouse) (TCP11), transcript variant 1, mRNA.	364					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				breast(1)|kidney(5)|large_intestine(3)|lung(10)|ovary(3)|prostate(1)|skin(4)	27						CTTCCAACAAGGATTTGGTTA	0.438000														41			20		0	0	0.002780	0	0
OR4A5	81318	broad.mit.edu	37	11	51412363	51412363	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:51412363G>A	uc001nhi.2	-	0	86	c.33C>T	c.(31-33)gtC>gtT	p.V11V		NM_001005272	NP_001005272	Q8NH83	OR4A5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 5 (OR4A5), mRNA.	11					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				AGCCCAGGAGGACAAATTCTG	0.423000														18			9		0	0	0.008291	0	0
FAT1	2195	broad.mit.edu	37	4	187554955	187554955	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr4:187554955G>A	uc003izf.3	-	6	4394	c.4206C>T	c.(4204-4206)ttC>ttT	p.F1402F		NM_005245	NP_005236	Q14517	FAT1_HUMAN	Homo sapiens FAT tumor suppressor homolog 1 (Drosophila) (FAT1), mRNA.	1402	Cadherin 12.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TGTCCACATCGAAGTGACTGT	0.423000										HNSCC(5;0.00058)				42			29		0	0	0.009535	0	0
DUOX1	53905	broad.mit.edu	37	15	45433598	45433598	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr15:45433598C>T	uc001zus.1	+	14	2020	c.1674C>T	c.(1672-1674)gtC>gtT	p.V558V	DUOX1_uc001zut.1_Silent_p.V558V|DUOX1_uc010bee.1_5'UTR	NM_017434	NP_787954	Q9NRD9	DUOX1_HUMAN	Homo sapiens dual oxidase 1 (DUOX1), transcript variant 1, mRNA.	558	Peroxidase-like; mediates peroxidase activity.				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	NAD(P)H oxidase activity|NADP binding|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|peroxidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		ATGTCTTTGTCTGGCATAAAG	0.552000														44			20		0	0	0.004656	0	0
CR2	1380	broad.mit.edu	37	1	207646436	207646436	+	Missense_Mutation	SNP	T	G	G			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:207646436T>G	uc001hfw.3	+	9	2009	c.1890T>G	c.(1888-1890)tgT>tgG	p.C630W	CR2_uc001hfv.3_Missense_Mutation_p.C630W|CR2_uc009xch.3_Missense_Mutation_p.C630W|CR2_uc009xci.1_Missense_Mutation_p.C115W	NM_001877	NP_001868	P20023	CR2_HUMAN	Homo sapiens complement component (3d/Epstein Barr virus) receptor 2 (CR2), transcript variant 2, mRNA.	630	Sushi 10.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						CATTCAAGTGTTATAGTGGAT	0.408000														6			129		0	0	0.014410	0	0
TAS2R60	338398	broad.mit.edu	37	7	143140937	143140937	+	Missense_Mutation	SNP	T	G	G	rs78798389		TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:143140937T>G	uc011ktg.2	+	0	392	c.392T>G	c.(391-393)tTc>tGc	p.F131C	LOC285965_uc003wda.3_Intron	NM_177437	NP_803186	P59551	T2R60_HUMAN	Homo sapiens taste receptor, type 2, member 60 (TAS2R60), mRNA.	131					sensory perception of bitter taste	integral to membrane	G-protein coupled receptor activity			breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2)	31	Melanoma(164;0.172)					CCTGTCTTCTTCTGGCTAAAG	0.493000														72			126		0	0	0.014410	0	0
AKR1D1	6718	broad.mit.edu	37	7	137773491	137773491	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:137773491G>A	uc003vtz.3	+	1	325	c.238G>A	c.(238-240)Gaa>Aaa	p.E80K	AKR1D1_uc011kqd.1_Intron|AKR1D1_uc011kqb.1_Missense_Mutation_p.E80K|AKR1D1_uc011kqc.1_Non-coding_Transcript|AKR1D1_uc011kqf.2_Missense_Mutation_p.E80K|AKR1D1_uc011kqe.1_Missense_Mutation_p.E80K|RN7SK_uc022amj.1_5'Flank	NM_005989	NP_005980	P51857	AK1D1_HUMAN	Homo sapiens aldo-keto reductase family 1, member D1 (delta 4-3-ketosteroid-5-beta-reductase) (AKR1D1), transcript variant 1, mRNA.	80					C21-steroid hormone metabolic process|androgen metabolic process|bile acid biosynthetic process|bile acid catabolic process|cholesterol catabolic process|digestion	cytosol	aldo-keto reductase (NADP) activity|delta4-3-oxosteroid 5beta-reductase activity|steroid binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	23						GGTGCGGAGGGAAGATATCTT	0.473000														5			5		0	0	0.001168	0	0
LOC440518	440518	broad.mit.edu	37	19	22784257	22784257	+	RNA	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:22784257G>A	uc002nqu.4	+	5		c.691G>A								Homo sapiens golgin A2 pseudogene (LOC440518), non-coding RNA.																		TCACTCAGAGGAAGAGGAGGG	0.572000														8			4		0	0	0.009096	0	0
OR5B17	219965	broad.mit.edu	37	11	58126218	58126218	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:58126218C>T	uc010rke.2	-	0	325	c.325G>A	c.(325-327)Gaa>Aaa	p.E109K		NM_001005489	NP_001005489	Q8NGF7	OR5BH_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily B, member 17 (OR5B17), mRNA.	109					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				AGGTAATTTTCCACAGTGGCA	0.473000														20			24		0	0	0.003330	0	0
ASZ1	136991	broad.mit.edu	37	7	117067579	117067579	+	Splice_Site	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:117067579G>A	uc003vjb.2	-	1	1	c.-62_splice	c.e1-1		ASZ1_uc011kno.1_Splice_Site|ASZ1_uc011knp.1_Splice_Site	NM_130768	NP_570124	Q8WWH4	ASZ1_HUMAN	Homo sapiens ankyrin repeat, SAM and basic leucine zipper domain containing 1 (ASZ1), transcript variant 1, mRNA.						DNA methylation involved in gamete generation|cell differentiation|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	signal transducer activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(3)|skin(1)	24	Lung NSC(10;0.00156)|all_lung(10;0.00175)		STAD - Stomach adenocarcinoma(10;0.000512)			ATGCGCACCGGGGTGGGGCGT	0.731000											OREG0003439	type=REGULATORY REGION|Gene=ASZ1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay		6			9		0	0	0.004482	0	0
FOXO1	2308	broad.mit.edu	37	13	41134661	41134661	+	Missense_Mutation	SNP	T	C	C			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr13:41134661T>C	uc001uxl.4	-	1	1352	c.967A>G	c.(967-969)Act>Gct	p.T323A	FOXO1_uc010acc.1_Missense_Mutation_p.T138A	NM_002015	NP_002006	Q12778	FOXO1_HUMAN	Homo sapiens forkhead box O1 (FOXO1), mRNA.	323					anti-apoptosis|blood vessel development|embryo development|endocrine pancreas development|insulin receptor signaling pathway|negative regulation of stress-activated MAPK cascade|nerve growth factor receptor signaling pathway|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|response to DNA damage stimulus|tissue development	cytosol|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase 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 factor binding		PAX7/FOXO1(197)|PAX3/FOXO1(749)	central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	20		Lung NSC(96;1.18e-05)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)		all cancers(112;7.32e-09)|Epithelial(112;2.87e-06)|OV - Ovarian serous cystadenocarcinoma(117;6.98e-05)|GBM - Glioblastoma multiforme(144;0.00394)|BRCA - Breast invasive adenocarcinoma(63;0.0815)		CCACTAATAGTACTAGCATTT	0.483000														55			68		0	0	0.014410	0	0
MS4A1	931	broad.mit.edu	37	11	60233401	60233401	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:60233401G>A	uc009yna.3	+	4	671	c.344G>A	c.(343-345)gGa>gAa	p.G115E	MS4A1_uc009ymz.3_Missense_Mutation_p.G115E|MS4A1_uc010rlc.2_Intron|MS4A1_uc001npp.3_Missense_Mutation_p.G115E|MS4A1_uc001npq.3_Missense_Mutation_p.G115E	NM_152866	NP_690605	P11836	CD20_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 1 (MS4A1), transcript variant 1, mRNA.	115					B cell activation|immune response	integral to plasma membrane				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24					Ibritumomab(DB00078)|Rituximab(DB00073)|Tositumomab(DB00081)	CAGGTCAAAGGAAAAATGATA	0.338000														33			26		0	0	0.009535	0	0
FAM113B	91523	broad.mit.edu	37	12	47629761	47629761	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:47629761C>T	uc001rpq.3	+	1	1440	c.915C>T	c.(913-915)ttC>ttT	p.F305F	FAM113B_uc001rpn.3_Silent_p.F305F|FAM113B_uc021qxi.1_Silent_p.F305F	NM_138371	NP_612380	Q96HM7	F113B_HUMAN	Homo sapiens family with sequence similarity 113, member B (FAM113B), mRNA.	305	Pro-rich.						hydrolase activity			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(10)	35	Renal(347;0.138)|Lung SC(27;0.192)					tgcttgggttcccaccccagc	0.672000														22			22		0	0	0.014323	0	0
ARMC4	55130	broad.mit.edu	37	10	28225794	28225794	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr10:28225794C>T	uc009xky.3	-	14	2211	c.2113G>A	c.(2113-2115)Gaa>Aaa	p.E705K	ARMC4_uc010qds.2_Missense_Mutation_p.E230K|ARMC4_uc010qdt.2_Missense_Mutation_p.E397K|ARMC4_uc001itz.3_Missense_Mutation_p.E705K	NM_018076	NP_060546	Q5T2S8	ARMC4_HUMAN	Homo sapiens armadillo repeat containing 4 (ARMC4), mRNA.	705							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						TCCCGGGTTTCCTTATCTTCA	0.488000														25			21		0	0	0.010504	0	0
BRWD3	254065	broad.mit.edu	37	X	79980524	79980524	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:79980524C>T	uc004edt.3	-	14	1692	c.1429G>A	c.(1429-1431)Gat>Aat	p.D477N	BRWD3_uc004edp.3_Missense_Mutation_p.D306N|BRWD3_uc004edq.3_Missense_Mutation_p.D73N|BRWD3_uc010nmj.2_Missense_Mutation_p.D73N|BRWD3_uc004edr.3_Missense_Mutation_p.D147N|BRWD3_uc004eds.3_Missense_Mutation_p.D73N|BRWD3_uc004edo.3_Missense_Mutation_p.D73N|BRWD3_uc004edu.3_Missense_Mutation_p.D147N|BRWD3_uc004edv.3_Missense_Mutation_p.D73N|BRWD3_uc004edw.3_Missense_Mutation_p.D73N|BRWD3_uc004edx.3_Missense_Mutation_p.D73N|BRWD3_uc004edy.3_Missense_Mutation_p.D73N|BRWD3_uc004edz.3_Missense_Mutation_p.D147N|BRWD3_uc004eea.3_Missense_Mutation_p.D147N|BRWD3_uc004eeb.3_Missense_Mutation_p.D73N	NM_153252	NP_694984	Q6RI45	BRWD3_HUMAN	Homo sapiens bromodomain and WD repeat domain containing 3 (BRWD3), mRNA.	477										breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						ATCCTTTGATCAAATGGATGG	0.368000														28			20		0	0	0.010504	0	0
MC5R	4161	broad.mit.edu	37	18	13825911	13825911	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr18:13825911C>T	uc010xaf.2	+	0	369	c.147C>T	c.(145-147)atC>atT	p.I49I		NM_005913	NP_005904	P33032	MC5R_HUMAN	Homo sapiens melanocortin 5 receptor (MC5R), mRNA.	49					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocortin receptor activity|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						TGGGTGTCATCAGCCTCTTGG	0.512000														17			15		0	0	0.002450	0	0
GUCY1A3	2982	broad.mit.edu	37	4	156618034	156618034	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr4:156618034G>A	uc003iov.3	+	3	551	c.15G>A	c.(13-15)aaG>aaA	p.K5K	GUCY1A3_uc003iou.2_Silent_p.K5K|GUCY1A3_uc010iqc.2_Silent_p.K5K|GUCY1A3_uc010iqd.3_Silent_p.K5K|GUCY1A3_uc003iow.3_Silent_p.K5K|GUCY1A3_uc003iox.3_Silent_p.K5K|GUCY1A3_uc010iqe.3_5'UTR|GUCY1A3_uc003ioy.3_Silent_p.K5K|GUCY1A3_uc003ioz.3_Intron|GUCY1A3_uc003ipa.3_Non-coding_Transcript|GUCY1A3_uc003ipb.3_Silent_p.K5K	NM_000856	NP_001124157	Q02108	GCYA3_HUMAN	Homo sapiens guanylate cyclase 1, soluble, alpha 3 (GUCY1A3), transcript variant 1, mRNA.	5					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		TCTGCACGAAGCTCAAGGATC	0.488000														18			14		0	0	0.004007	0	0
ITGAL	3683	broad.mit.edu	37	16	30515547	30515547	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr16:30515547C>T	uc002dyi.4	+	17	2373	c.2197C>T	c.(2197-2199)Ctt>Ttt	p.L733F	ITGAL_uc002dyj.4_Missense_Mutation_p.L650F|ITGAL_uc010vev.2_Intron	NM_002209	NP_002200	P20701	ITAL_HUMAN	Homo sapiens integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide) (ITGAL), transcript variant 1, mRNA.	733					T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	cell adhesion molecule binding|receptor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Efalizumab(DB00095)	GAATTTCTCTCTTTGGGAGGA	0.473000														49			25		0	0	0.009535	0	0
DNAH9	1770	broad.mit.edu	37	17	11671865	11671865	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr17:11671865C>T	uc002gne.3	+	36	7334	c.7266C>T	c.(7264-7266)atC>atT	p.I2422I	DNAH9_uc010coo.3_Silent_p.I1716I	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	2422					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)		ACTATTACATCGACCCAGAGA	0.522000														39			26		0	0	0.007291	0	0
TTC31	64427	broad.mit.edu	37	2	74719542	74719542	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:74719542C>T	uc002slt.2	+	10	1154	c.1131C>T	c.(1129-1131)ttC>ttT	p.F377F	TTC31_uc002sls.2_3'UTR|TTC31_uc002slu.2_Silent_p.F231F	NM_022492	NP_071937	Q49AM3	TTC31_HUMAN	Homo sapiens tetratricopeptide repeat domain 31 (TTC31), transcript variant 1, mRNA.	377							binding			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9						GGGGCCTCTTCCGCCTGGGCA	0.617000														26			30		0	0	0.010818	0	0
BRCC3	79184	broad.mit.edu	37	X	154300608	154300608	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:154300608G>A	uc004fna.3	+	1	238	c.130G>A	c.(130-132)Gat>Aat	p.D44N	MTCP1NB_uc004fmy.3_5'Flank|MTCP1_uc004fmz.2_5'Flank|BRCC3_uc011mzz.2_Non-coding_Transcript|BRCC3_uc004fnb.3_Missense_Mutation_p.D44N|BRCC3_uc011mzy.2_Missense_Mutation_p.D44N	NM_024332	NP_077308	P46736	BRCC3_HUMAN	Homo sapiens BRCA1/BRCA2-containing complex, subunit 3 (BRCC3), transcript variant 1, mRNA.	44					G2/M transition DNA damage checkpoint|double-strand break repair|histone H2A K63-linked deubiquitination|positive regulation of DNA repair|response to X-ray	BRCA1-A complex|BRISC complex|nuclear ubiquitin ligase complex	enzyme regulator activity|metal ion binding|metallopeptidase activity|polyubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|pancreas(1)|skin(1)	22	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)					CTAGTTGAACGATGATACAAG	0.328000														71			24		0	0	0.007291	0	0
PRSS54	221191	broad.mit.edu	37	16	58314339	58314339	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr16:58314339C>T	uc002enf.3	-	6	1372	c.977G>A	c.(976-978)gGa>gAa	p.G326E	PRSS54_uc002eng.3_Missense_Mutation_p.G326E|PRSS54_uc010vie.2_Missense_Mutation_p.G227E|CCDC113_uc002ene.3_3'UTR|CCDC113_uc010vid.2_3'UTR	NM_001080492	NP_001073961	Q6PEW0	PRS54_HUMAN	Homo sapiens protease, serine, 54 (PRSS54), mRNA.	326					proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						AGAGCTGTTTCCTAGTCGTGA	0.448000														41			26		0	0	0.005443	0	0
TTN	7273	broad.mit.edu	37	2	179404389	179404389	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:179404389C>T	uc021vsy.1	-	300	90924	c.90699G>A	c.(90697-90699)ggG>ggA	p.G30233G	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Non-coding_Transcript|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.G23928G|TTN_uc021vta.1_Silent_p.G23861G|TTN_uc021vtb.1_Silent_p.G23736G	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	31160	Fibronectin type-III 120.						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)			ATTCCAGTGGCCCTTCTGGAC	0.502000														42			38		0	0	0.006999	0	0
PGAP3	93210	broad.mit.edu	37	17	37840880	37840880	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr17:37840880G>A	uc002hsj.3	-	2	445	c.402C>T	c.(400-402)ccC>ccT	p.P134P	PGAP3_uc010cvy.3_Non-coding_Transcript|PGAP3_uc010wej.2_Silent_p.P134P|PGAP3_uc002hsk.3_Intron|PGAP3_uc010cvz.3_Silent_p.P134P	NM_033419	NP_219487	Q96FM1	PGAP3_HUMAN	Homo sapiens post-GPI attachment to proteins 3 (PGAP3), mRNA.	134					GPI anchor biosynthetic process	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	hydrolase activity, acting on ester bonds			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12						TGTGGTACATGGGGGAGGAGG	0.587000														11			20		0	0	0.010504	0	0
C1orf63	57035	broad.mit.edu	37	1	25573264	25573264	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:25573264G>A	uc001bjw.3	-	1	443	c.191C>T	c.(190-192)tCc>tTc	p.S64F	C1orf63_uc021oji.1_Non-coding_Transcript|C1orf63_uc021ojj.1_Non-coding_Transcript	NM_020317	NP_064713	Q9BUV0	CA063_HUMAN	Homo sapiens chromosome 1 open reading frame 63 (C1orf63), mRNA.	64	Arg-rich.									breast(1)|large_intestine(1)|lung(4)|pancreas(1)	7		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;7.9e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;6.43e-07)|STAD - Stomach adenocarcinoma(196;0.000333)|BRCA - Breast invasive adenocarcinoma(304;0.000443)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.000932)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TCGGGAACGGGACCTGGACTT	0.657000														4			52		0	0	0.014410	0	0
SPEG	10290	broad.mit.edu	37	2	220354402	220354402	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:220354402C>T	uc010fwg.3	+	35	8662	c.8662C>T	c.(8662-8664)Cct>Tct	p.P2888S		NM_005876	NP_005867	Q15772	SPEG_HUMAN	Homo sapiens SPEG complex locus (SPEG), transcript variant 1, mRNA.	2888	Pro-rich.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		AGCCTCCACTCCTCAAGGGGT	0.627000														80			78		0	0	0.014410	0	0
OR1L3	26735	broad.mit.edu	37	9	125437783	125437783	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr9:125437783C>T	uc011lzb.2	+	0	375	c.375C>T	c.(373-375)gcC>gcT	p.A125A		NM_001005234	NP_001005234	Q8NH93	OR1L3_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily L, member 3 (OR1L3), mRNA.	125					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	16						GCTGTGTAGCCATTTGTAACC	0.443000														3			66		0	0	0.014410	0	0
APOL3	80833	broad.mit.edu	37	22	36537752	36537752	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr22:36537752G>A	uc003aot.3	-	2	743	c.705C>T	c.(703-705)atC>atT	p.I235I	APOL3_uc003aoq.3_Silent_p.I164I|APOL3_uc003aor.3_Silent_p.I164I|APOL3_uc003aos.3_Silent_p.I164I|APOL3_uc003aou.3_Silent_p.I35I|APOL3_uc003aov.3_Silent_p.I35I|APOL3_uc021wol.1_Silent_p.I35I	NM_145640	NP_663617	O95236	APOL3_HUMAN	Homo sapiens apolipoprotein L, 3 (APOL3), transcript variant alpha/d, mRNA.	235					inflammatory response|lipoprotein metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|extracellular region	lipid binding|lipid transporter activity|signal transducer activity			endometrium(2)|large_intestine(1)|lung(1)|stomach(1)	5						TGCTGGTGGTGATCCCAGTCA	0.547000														12			9		0	0	0.006214	0	0
FMNL1	752	broad.mit.edu	37	17	43314976	43314976	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr17:43314976C>T	uc002iin.3	+	8	1064	c.864C>T	c.(862-864)atC>atT	p.I288I		NM_005892	NP_005883	O95466	FMNL_HUMAN	Homo sapiens formin-like 1 (FMNL1), mRNA.	288	GBD/FH3.				actin cytoskeleton organization		Rho GTPase binding|actin binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2)	33						GACATGACATCATCCTTGCAG	0.557000														90			63		0	0	0.014410	0	0
CXCR2	3579	broad.mit.edu	37	2	219000367	219000367	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:219000367G>A	uc002vgz.2	+	3	1053	c.843G>A	c.(841-843)gtG>gtA	p.V281V	CXCR2_uc002vha.2_Silent_p.V281V|CXCR2_uc002vhb.2_Silent_p.V281V|CXCR2_uc021vwp.1_Silent_p.V281V	NM_001168298	NP_001548	P25025	CXCR2_HUMAN	Homo sapiens chemokine (C-X-C motif) receptor 2 (CXCR2), transcript variant 2, mRNA.	281					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular defense response|dendritic cell chemotaxis|inflammatory response|neutrophil activation|neutrophil chemotaxis|positive regulation of cell proliferation	cell surface|integral to plasma membrane|mast cell granule	interleukin-8 receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(11)|skin(1)|stomach(1)	22						GGACCCAGGTGATCCAGGAGA	0.607000														43			29		0	0	0.009535	0	0
NBEAL2	23218	broad.mit.edu	37	3	47049159	47049159	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:47049159G>A	uc003cqp.3	+	47	7658	c.7479G>A	c.(7477-7479)aaG>aaA	p.K2493K	NBEAL2_uc010hjm.2_Silent_p.K1870K|NBEAL2_uc010hjn.2_Silent_p.K859K	NM_015175	NP_055990	Q6ZNJ1	NBEL2_HUMAN	Homo sapiens neurobeachin-like 2 (NBEAL2), mRNA.	2493							binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		CCCGTGGCAAGCTGTTGAGCC	0.627000														7			7		0	0	0.001984	0	0
OR2Y1	134083	broad.mit.edu	37	5	180166214	180166214	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:180166214G>A	uc003mmf.1	-	0	845	c.845C>T	c.(844-846)cCc>cTc	p.P282L		NM_001001657	NP_001001657	Q8NGV0	OR2Y1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily Y, member 1 (OR2Y1), mRNA.	282					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P282P(1)		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)			ATTGAGAATGGGGGTAATTAT	0.428000														90			68		0	0	0.014410	0	0
SPEF2	79925	broad.mit.edu	37	5	35807313	35807313	+	Silent	SNP	T	C	C			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:35807313T>C	uc003jjo.3	+	35	5448	c.5337T>C	c.(5335-5337)ttT>ttC	p.F1779F	SPEF2_uc003jjp.1_Silent_p.F1265F|SPEF2_uc003jjr.3_Silent_p.F834F	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	Homo sapiens sperm flagellar 2 (SPEF2), transcript variant 1, mRNA.	1779					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AGCATCCTTTTATTCAAGACC	0.393000														98			86		0	0	0.014410	0	0
GALR1	2587	broad.mit.edu	37	18	74968116	74968116	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr18:74968116C>T	uc002lms.4	+	1	1166	c.669C>T	c.(667-669)gtC>gtT	p.V223V		NM_001480	NP_001471	P47211	GALR1_HUMAN	Homo sapiens galanin receptor 1 (GALR1), mRNA.	223					digestion|negative regulation of adenylate cyclase activity	integral to membrane|plasma membrane	galanin receptor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)		OV - Ovarian serous cystadenocarcinoma(15;1.03e-06)|BRCA - Breast invasive adenocarcinoma(31;0.104)		TCTTTCAGGTCCTTAATCACT	0.343000														48			28		0	0	0.003755	0	0
ABCA8	10351	broad.mit.edu	37	17	66902293	66902293	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr17:66902293C>T	uc002jhq.3	-	18	2630	c.2290G>A	c.(2290-2292)Gat>Aat	p.D764N	ABCA8_uc002jhp.3_Missense_Mutation_p.D724N|ABCA8_uc010wqq.2_Missense_Mutation_p.D764N|ABCA8_uc010wqr.2_Missense_Mutation_p.D703N|ABCA8_uc002jhr.3_Missense_Mutation_p.D764N	NM_007168	NP_009099	O94911	ABCA8_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 8 (ABCA8), mRNA.	724						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					CTATCAAGATCCTTGTAAAGT	0.313000														49			38		0	0	0.009718	0	0
CNTNAP2	26047	broad.mit.edu	37	7	147914416	147914416	+	Missense_Mutation	SNP	G	A	A	rs143879959		TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:147914416G>A	uc003weu.2	+	18	3563	c.3047G>A	c.(3046-3048)cGa>cAa	p.R1016Q		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	1016					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	p.R1016Q(2)		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)			ATGTGGCTACGATATAACTTT	0.488000										HNSCC(39;0.1)				96			38		0	0	0.004289	0	0
LOR	4014	broad.mit.edu	37	1	153234258	153234258	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:153234258G>A	uc021ozy.1	+	0	833	c.833G>A	c.(832-834)gGa>gAa	p.G278E	LOR_uc001fbm.3_Missense_Mutation_p.G278E	NM_000427	NP_000418	P23490	LORI_HUMAN	Homo sapiens loricrin (LOR), mRNA.	278					keratinization|peptide cross-linking	cornified envelope|cytoplasm|insoluble fraction|nucleoplasm	protein binding, bridging|structural constituent of cytoskeleton			lung(2)	2	all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GGTTCCTCTGGAGGCGGCGGC	0.746000														2			30		0	0	0.007291	0	0
CILP2	148113	broad.mit.edu	37	19	19654542	19654542	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:19654542C>T	uc002nmw.4	+	7	1291	c.1206C>T	c.(1204-1206)ctC>ctT	p.L402L	CILP2_uc002nmv.4_Silent_p.L396L	NM_153221	NP_694953	Q8IUL8	CILP2_HUMAN	Homo sapiens cartilage intermediate layer protein 2 (CILP2), mRNA.	396						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						TGATCAAGCTCCCTGAGGACT	0.667000														86			81		0	0	0.014410	0	0
DCLK3	85443	broad.mit.edu	37	3	36778957	36778957	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:36778957C>T	uc003cgi.2	-	1	1685	c.1194G>A	c.(1192-1194)atG>atA	p.M398I		NM_033403	NP_208382	Q9C098	DCLK3_HUMAN	Homo sapiens doublecortin-like kinase 3 (DCLK3), mRNA.	398	Protein kinase.					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						CACTGTCCACCATGTCCTCCT	0.507000														26			18		0	0	0.006122	0	0
LRP1B	53353	broad.mit.edu	37	2	141299464	141299464	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:141299464C>T	uc002tvj.1	-	43	8243	c.7271G>A	c.(7270-7272)gGa>gAa	p.G2424E		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	2424					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)		AGCTCTTCTTCCCCAGTCCGA	0.408000										TSP Lung(27;0.18)				31			23		0	0	0.014323	0	0
FAM169B	283777	broad.mit.edu	37	15	98995172	98995172	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr15:98995172C>T	uc002buk.1	-	4	502	c.252G>A	c.(250-252)agG>agA	p.R84R		NM_182562	NP_872368	Q8N8A8	F169B_HUMAN	Homo sapiens family with sequence similarity 169, member B (FAM169B), mRNA.	84										large_intestine(3)|lung(3)|urinary_tract(1)	7						AGTGTTTCCTCCTGATGAACA	0.577000														16			13		0	0	0.004007	0	0
ANKS1B	56899	broad.mit.edu	37	12	99898347	99898347	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:99898347C>T	uc001tge.2	-	9	1762	c.1345G>A	c.(1345-1347)Gaa>Aaa	p.E449K	ANKS1B_uc001tgf.2_Missense_Mutation_p.E29K|ANKS1B_uc009ztt.1_Missense_Mutation_p.E415K	NM_152788	NP_690001	Q7Z6G8	ANS1B_HUMAN	Homo sapiens ankyrin repeat and sterile alpha motif domain containing 1B (ANKS1B), transcript variant 1, mRNA.	449						Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		TTCTCATTTTCTGAAGGAAAT	0.378000														8			14		0	0	0.001855	0	0
CETN2	1069	broad.mit.edu	37	X	151997145	151997145	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:151997145G>A	uc004fgq.3	-	3	412	c.365C>T	c.(364-366)tCg>tTg	p.S122L	NSDHL_uc004fgt.1_5'Flank|NSDHL_uc004fgs.1_5'Flank	NM_004344	NP_004335	P41208	CETN2_HUMAN	Homo sapiens centrin, EF-hand protein, 2 (CETN2), mRNA.	122	EF-hand 3.				G2/M transition of mitotic cell cycle|cell division|centriole replication|mitosis|nucleotide-excision repair|regulation of cytokinesis	XPC complex|centriole|cytosol	ATP binding|ATP-dependent helicase activity|calcium ion binding|nucleic acid binding			breast(1)|lung(4)|prostate(1)|skin(1)	7	Acute lymphoblastic leukemia(192;6.56e-05)					ATTTTTGAACGAAATCTTCCC	0.398000								Direct reversal of damage;Nucleotide excision repair (NER)						51			81		0	0	0.014410	0	0
MYOM1	8736	broad.mit.edu	37	18	3129437	3129437	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr18:3129437C>T	uc002klp.3	-	17	2921	c.2587G>A	c.(2587-2589)Gaa>Aaa	p.E863K	MYOM1_uc002klq.3_Intron	NM_003803	NP_003794	P52179	MYOM1_HUMAN	Homo sapiens myomesin 1, 185kDa (MYOM1), transcript variant 1, mRNA.	863						striated muscle myosin thick filament	structural constituent of muscle			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						GGGGAGGCTTCATGCACGCGC	0.557000											OREG0024838	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		67			67		0	0	0.014410	0	0
C2orf70	339778	broad.mit.edu	37	2	26802166	26802166	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:26802166C>T	uc010eyn.3	+	3	466	c.466C>T	c.(466-468)Cct>Tct	p.P156S		NM_001105519	NP_001098989	A6NJV1	CB070_HUMAN	Homo sapiens chromosome 2 open reading frame 70 (C2orf70), mRNA.	156										breast(3)|endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	13						CCCTAGGCCTCCTCTGTGCCC	0.582000														33			17		0	0	0.007413	0	0
NOC2L	26155	broad.mit.edu	37	1	892513	892513	+	Missense_Mutation	SNP	T	G	G			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:892513T>G	uc009vjq.3	-	2	379	c.320A>C	c.(319-321)gAg>gCg	p.E107A	NOC2L_uc001aby.4_5'UTR|NOC2L_uc001abz.4_Missense_Mutation_p.E107A	NM_015658	NP_056473	Q9Y3T9	NOC2L_HUMAN	Homo sapiens nucleolar complex associated 2 homolog (S. cerevisiae) (NOC2L), mRNA.	107	Poly-Glu.					nucleolus	protein binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	16	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)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		GAACGGCCCCTCTTCCTCCTC	0.582000														63			43		0	0	0.011902	0	0
LEFTY1	10637	broad.mit.edu	37	1	226076643	226076643	+	Missense_Mutation	SNP	T	G	G			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:226076643T>G	uc001hpo.3	-	0	204	c.124A>C	c.(124-126)Acc>Ccc	p.T42P	PYCR2_uc010pvj.2_Intron|LEFTY1_uc009xej.2_Missense_Mutation_p.T42P	NM_020997	NP_066277	O75610	LFTY1_HUMAN	Homo sapiens left-right determination factor 1 (LEFTY1), mRNA.	42					cell growth|multicellular organismal development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity|transforming growth factor beta receptor binding			cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	10	Breast(184;0.197)					CTGTCCAGGGTGGGCACCTCT	0.731000														1			17		0	0	0.014323	0	0
DHX15	1665	broad.mit.edu	37	4	24543617	24543617	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr4:24543617G>A	uc003gqx.3	-	7	1532	c.1364C>T	c.(1363-1365)tCc>tTc	p.S455F	DHX15_uc003gqw.3_5'Flank	NM_001358	NP_001349	O43143	DHX15_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 15 (DHX15), mRNA.	455	Helicase C-terminal.				mRNA processing	U12-type spliceosomal complex	ATP binding|ATP-dependent helicase activity|RNA helicase activity|nucleic acid binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	30		Breast(46;0.0503)				CACCAAAAGGGACTCAACTCT	0.418000														22			26		0	0	0.007291	0	0
POTEG	404785	broad.mit.edu	37	14	19573109	19573109	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr14:19573109C>T	uc001vuz.1	+	7	1259	c.1207C>T	c.(1207-1209)Caa>Taa	p.Q403*	POTEG_uc001vva.1_Non-coding_Transcript|POTEG_uc010ahc.1_Non-coding_Transcript	NM_001005356	NP_001005356	Q6S5H5	POTEG_HUMAN	Homo sapiens POTE ankyrin domain family, member G (POTEG), transcript variant 1, mRNA.	403										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						GGAAATGTCTCAAGAACCAGA	0.294000														126			15		0	0	0.002780	0	0
ASGR1	432	broad.mit.edu	37	17	7080604	7080604	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr17:7080604C>T	uc002ges.4	-	2	512	c.112G>A	c.(112-114)Gga>Aga	p.G38R	ASGR1_uc021toy.1_Intron|ASGR1_uc010clx.1_5'Flank	NM_001671	NP_001662	P07306	ASGR1_HUMAN	Homo sapiens asialoglycoprotein receptor 1 (ASGR1), transcript variant 1, mRNA.	38					receptor-mediated endocytosis	integral to plasma membrane	asialoglycoprotein receptor activity|metal ion binding|sugar binding	p.S37S(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)|urinary_tract(1)	10						AGGCGAGGTCCGGAGCAGAGA	0.682000											OREG0024128	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		22			31		0	0	0.012213	0	0
PIK3C2G	5288	broad.mit.edu	37	12	18435229	18435229	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:18435229G>A	uc001rdt.3	+	1	330	c.214G>A	c.(214-216)Gac>Aac	p.D72N	PIK3C2G_uc010sia.2_Non-coding_Transcript|PIK3C2G_uc010sib.2_Missense_Mutation_p.D72N|PIK3C2G_uc010sic.2_5'UTR	NM_004570	NP_004561	O75747	P3C2G_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, gamma polypeptide (PIK3C2G), mRNA.	72					cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				ACCAAAATGGGACTCAACAGG	0.413000														59			48		0	0	0.014410	0	0
SLC17A8	246213	broad.mit.edu	37	12	100751249	100751249	+	Missense_Mutation	SNP	A	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:100751249A>T	uc010svi.2	+	0	393	c.80A>T	c.(79-81)gAt>gTt	p.D27V	SLC17A8_uc009ztx.3_Missense_Mutation_p.D27V	NM_139319	NP_647480	Q8NDX2	VGLU3_HUMAN	Homo sapiens solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 8 (SLC17A8), transcript variant 1, mRNA.	27					neurotransmitter transport|sensory perception of sound|sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						GCCGTGGGAGATTCTTTGGGA	0.403000														47			29		0	0	0.008361	0	0
SI	6476	broad.mit.edu	37	3	164780273	164780273	+	Splice_Site	SNP	T	C	C			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:164780273T>C	uc003fei.3	-	9	971	c.908_splice	c.e9-1	p.E303_splice		NM_001041	NP_001032	P14410	SUIS_HUMAN	Homo sapiens sucrase-isomaltase (alpha-glucosidase) (SI), mRNA.	303	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	Golgi apparatus|apical plasma membrane|brush border|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TAAAAATCTCTGCAAAATAAA	0.289000										HNSCC(35;0.089)				27			14		0	0	0.003163	0	0
SATB1	6304	broad.mit.edu	37	3	18427891	18427891	+	Splice_Site	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:18427891C>T	uc003cbh.3	-	8	3154	c.1419_splice	c.e8+1	p.Q473_splice	SATB1_uc003cbi.3_Splice_Site_p.Q473_splice|SATB1_uc003cbj.3_Splice_Site_p.Q473_splice	NM_002971	NP_002962	Q01826	SATB1_HUMAN	Homo sapiens SATB homeobox 1 (SATB1), transcript variant 1, mRNA.	473					cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter	PML body|nuclear matrix	double-stranded DNA binding|sequence-specific DNA binding			NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						GAGACCGCACCTGGGGAGGAC	0.478000														64			43		0	0	0.014410	0	0
MAP3K15	389840	broad.mit.edu	37	X	19482481	19482481	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:19482481G>A	uc022btq.1	-	3	569	c.569C>T	c.(568-570)cCg>cTg	p.P190L	MAP3K15_uc004czk.2_5'UTR	NM_001001671	NP_001001671	Q6ZN16	M3K15_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 15 (MAP3K15), mRNA.	190							ATP binding|MAP kinase kinase kinase activity|metal ion binding			NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					ATCAGCGCACGGTGTCACGAT	0.483000														12			15		0	0	0.003163	0	0
AAMP	14	broad.mit.edu	37	2	219130319	219130319	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:219130319G>A	uc002vhl.3	-	7	1053	c.969C>T	c.(967-969)tcC>tcT	p.S323S	AAMP_uc002vhk.3_Silent_p.S322S	NM_001087	NP_001078	Q13685	AAMP_HUMAN	Homo sapiens angio-associated, migratory cell protein (AAMP), mRNA.	322					angiogenesis|cell differentiation|positive regulation of endothelial cell migration|smooth muscle cell migration	cell surface|cytoplasm|plasma membrane	heparin binding			haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(4)|ovary(2)|skin(1)	11		Renal(207;0.0474)		Epithelial(149;7.19e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGAAGCCCAAGGACTCCACCG	0.637000														25			15		0	0	0.003163	0	0
FSIP2	401024	broad.mit.edu	37	2	186678426	186678426	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:186678426G>A	uc002upl.3	+	17	20249	c.20249G>A	c.(20248-20250)cGa>cAa	p.R6750Q	FSIP2_uc002upm.3_Non-coding_Transcript	NM_173651	NP_775922			Homo sapiens fibrous sheath interacting protein 2 (FSIP2), mRNA.											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						AAAGAGGAACGAGATTCTGAT	0.313000														14			7		0	0	0.004482	0	0
ARL15	54622	broad.mit.edu	37	5	53467730	53467730	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:53467730G>A	uc003jpg.1	-	1	171	c.77C>T	c.(76-78)cCa>cTa	p.P26L	ARL15_uc010ivs.1_Intron	NM_019087	NP_061960	Q9NXU5	ARL15_HUMAN	Homo sapiens ADP-ribosylation factor-like 15 (ARL15), mRNA.	26							GTP binding	p.C25S(1)		endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	6		Lung NSC(810;0.000779)				TGCAGGTGGTGGTCCCTTGCA	0.433000														22			13		0	0	0.002450	0	0
SSH3	54961	broad.mit.edu	37	11	67079175	67079175	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:67079175C>T	uc001okj.3	+	13	1975	c.1797C>T	c.(1795-1797)tcC>tcT	p.S599S	SSH3_uc001okk.3_Non-coding_Transcript|SSH3_uc001okl.3_Silent_p.S453S	NM_017857	NP_060327	Q8TE77	SSH3_HUMAN	Homo sapiens slingshot homolog 3 (Drosophila) (SSH3), mRNA.	599					regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton|nucleus	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			CCCTGAAGTCCCGCCAGTCAG	0.667000														16			27		0	0	0.006320	0	0
TMEM217	221468	broad.mit.edu	37	6	37186253	37186253	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr6:37186253G>A	uc003onl.3	-	1	635	c.554C>T	c.(553-555)tCg>tTg	p.S185L	TMEM217_uc010jwr.3_Missense_Mutation_p.S185L|TMEM217_uc010jws.3_Intron|TMEM217_uc003onm.4_Missense_Mutation_p.S185L	NM_145316	NP_660359	Q8N7C4	TM217_HUMAN	Homo sapiens transmembrane protein 217 (TMEM217), transcript variant 1, mRNA.	185						integral to membrane		p.S185L(2)		endometrium(2)|kidney(1)|large_intestine(5)|lung(1)	9						gaacccACTCGAAATTGATAA	0.478000														51			26		0	0	0.005443	0	0
RET	5979	broad.mit.edu	37	10	43615600	43615600	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr10:43615600C>T	uc001jal.3	+	14	2869	c.2679C>T	c.(2677-2679)ttC>ttT	p.F893F	RET_uc001jak.1_Silent_p.F893F|RET_uc010qez.1_Silent_p.F639F	NM_020975	NP_066124	P07949	RET_HUMAN	Homo sapiens ret proto-oncogene (RET), transcript variant 2, mRNA.	893	Protein kinase.		F -> L (in HSCR1; sporadic form).		homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	TTTCGGATTTCGGCTTGTCCC	0.567000		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma					15			10		0	0	0.013537	0	0
ZNF43	7594	broad.mit.edu	37	19	21990847	21990847	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:21990847G>A	uc002nqj.3	-	3	2122	c.1992C>T	c.(1990-1992)acC>acT	p.T664T	ZNF43_uc002nql.3_Silent_p.T658T|ZNF43_uc002nqm.3_Silent_p.T658T|ZNF43_uc010ecv.3_Silent_p.T658T|ZNF43_uc002nqk.3_Silent_p.T594T	NM_003423	NP_003414	P17038	ZNF43_HUMAN	Homo sapiens zinc finger protein 43 (ZNF43), mRNA.	664					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.T664N(1)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		GTTTAGTAAGGGTTGAGGACC	0.368000														44			29		0	0	0.013726	0	0
SALL1	6299	broad.mit.edu	37	16	51171368	51171368	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr16:51171368G>A	uc021tif.1	-	2	3661	c.3339C>T	c.(3337-3339)ccC>ccT	p.P1113P	SALL1_uc021tid.1_3'UTR|SALL1_uc021tie.1_3'UTR|SALL1_uc010cbv.3_Silent_p.P62P	NM_001127892	NP_001121364	Q9NSC2	SALL1_HUMAN	Homo sapiens sal-like 1 (Drosophila) (SALL1), transcript variant 2, mRNA.	1210					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	DNA binding|beta-catenin binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			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)			GGAACTTGACGGGATTGCCTC	0.557000														28			28		0	0	0.009535	0	0
LOC100233156	100233156	broad.mit.edu	37	GL000218.1	38820	38820	+	Missense_Mutation	SNP	T	C	C			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrGL000218.1:38820T>C	uc011mfn.2	-	4	732	c.643A>G	c.(643-645)Aat>Gat	p.N215D	LOC100233156_uc003jah.2_3'UTR					Homo sapiens tektin 4 pseudogene (LOC100233156), transcript variant 1, non-coding RNA.																		TTTGGGGGATTGGGGGGAAGC	0.582000														9			3		0	0	0.009096	0	0
TP63	8626	broad.mit.edu	37	3	189586378	189586378	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:189586378C>T	uc003fry.2	+	7	1091	c.1002C>T	c.(1000-1002)gtC>gtT	p.V334V	TP63_uc003frx.2_Silent_p.V334V|TP63_uc003frz.2_Silent_p.V334V|TP63_uc010hzc.1_Silent_p.V334V|TP63_uc003fsa.2_Silent_p.V240V|TP63_uc003fsb.2_Silent_p.V240V|TP63_uc003fsc.2_Silent_p.V240V|TP63_uc003fsd.2_Silent_p.V240V|TP63_uc021xir.1_Silent_p.V240V|TP63_uc010hzd.1_Silent_p.V155V|TP63_uc003fse.1_Silent_p.V215V	NM_003722	NP_003713	Q9H3D4	P63_HUMAN	Homo sapiens tumor protein p63 (TP63), transcript variant 1, mRNA.	334					DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|Notch signaling pathway|anti-apoptosis|cellular response to UV|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to X-ray|response to gamma radiation	Golgi apparatus|chromatin|cytosol|dendrite|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		GTGGGCAAGTCCTGGGCCGAC	0.488000										HNSCC(45;0.13)				25			15		0	0	0.003163	0	0
DNAH17	8632	broad.mit.edu	37	17	76475680	76475680	+	Missense_Mutation	SNP	C	T	T	rs61744345		TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr17:76475680C>T	uc010dhp.2	-	49	7912	c.7787G>A	c.(7786-7788)gGc>gAc	p.G2596D		NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GGCCTCCTGGCCGGGGAAGCT	0.607000														46			34		0	0	0.004289	0	0
TPTE	7179	broad.mit.edu	37	21	10908892	10908892	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr21:10908892G>A	uc002yip.1	-	22	1821	c.1453C>T	c.(1453-1455)Ctt>Ttt	p.L485F	TPTE_uc002yis.1_Non-coding_Transcript|TPTE_uc002yiq.1_Missense_Mutation_p.L467F|TPTE_uc002yir.1_Missense_Mutation_p.L447F|TPTE_uc010gkv.1_Missense_Mutation_p.L347F	NM_199261	NP_954870	P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA.	485	C2 tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.L467I(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TATGTAGGAAGATTCTAAAAA	0.269000														61			6		0	0	0.003080	0	0
OR52M1	119772	broad.mit.edu	37	11	4566853	4566853	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:4566853C>T	uc010qyf.2	+	0	433	c.433C>T	c.(433-435)Cgt>Tgt	p.R145C		NM_001004137	NP_001004137	Q8NGK5	O52M1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily M, member 1 (OR52M1), mRNA.	145					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R145G(2)|p.R145H(1)		endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGTGGTGGGTCGTTTGGGGCT	0.522000														31			19		0	0	0.008871	0	0
DNAH8	1769	broad.mit.edu	37	6	38791386	38791386	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr6:38791386C>T	uc021yzh.1	+	27	3878	c.3769C>T	c.(3769-3771)Cta>Tta	p.L1257L	DNAH8_uc003ooe.2_Silent_p.L1040L	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						ATCAGAAATTCTACACTATGC	0.299000														69			27		0	0	0.007291	0	0
SERPINB7	8710	broad.mit.edu	37	18	61471868	61471868	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr18:61471868G>A	uc002ljl.3	+	7	1238	c.1142G>A	c.(1141-1143)tGa>tAa	p.*381*	SERPINB7_uc002ljm.3_Silent_p.*381*|SERPINB7_uc010xet.2_Silent_p.*364*|SERPINB7_uc010dqg.3_Silent_p.*381*	NM_001040147	NP_003775	O75635	SPB7_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 7 (SERPINB7), transcript variant 2, mRNA.	0					regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	27		Esophageal squamous(42;0.129)				TCTTGCCCTTGAAAATCCAAT	0.403000														27			25		0	0	0.005443	0	0
GIMAP2	26157	broad.mit.edu	37	7	150389491	150389491	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:150389491G>A	uc003who.3	+	2	205	c.117G>A	c.(115-117)ggG>ggA	p.G39G		NM_015660	NP_056475	Q9UG22	GIMA2_HUMAN	Homo sapiens GTPase, IMAP family member 2 (GIMAP2), mRNA.	39						integral to membrane	GTP binding			kidney(1)|large_intestine(1)|lung(8)|skin(2)|urinary_tract(1)	13			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GTGCTGCAGGGAACAGCATCC	0.512000														18			26		0	0	0.005443	0	0
B3GALNT1	8706	broad.mit.edu	37	3	160804493	160804493	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:160804493G>A	uc003fdv.3	-	4	469	c.50C>T	c.(49-51)tCc>tTc	p.S17F	B3GALNT1_uc003fdw.3_Missense_Mutation_p.S17F|B3GALNT1_uc003fdx.3_Missense_Mutation_p.S17F|B3GALNT1_uc003fdy.3_Missense_Mutation_p.S17F|B3GALNT1_uc003fdz.3_Missense_Mutation_p.S17F|B3GALNT1_uc003fea.3_Missense_Mutation_p.S17F|B3GALNT1_uc011bpa.2_Missense_Mutation_p.S17F|B3GALNT1_uc021xgw.1_Missense_Mutation_p.S17F	NM_033169	NP_149359	O75752	B3GL1_HUMAN	Homo sapiens beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group) (B3GALNT1), transcript variant 4, mRNA.	17					protein glycosylation	Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity|galactosylgalactosylglucosylceramide beta-D-acetylgalactosaminyltransferase activity			breast(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13			LUSC - Lung squamous cell carcinoma(72;4.41e-05)|Lung(72;4.61e-05)			CCATTTGAGGGATCTCAGTGA	0.527000														16			15		0	0	0.002450	0	0
HMCN1	83872	broad.mit.edu	37	1	186062788	186062788	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:186062788G>A	uc001grq.1	+	65	10412	c.10183G>A	c.(10183-10185)Gga>Aga	p.G3395R	MIR548F1_uc021pgf.1_Intron	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	3395	Ig-like C2-type 32.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						ACTGGCAGCAGGACAAGTTAT	0.433000														126			37		0	0	0.009718	0	0
MARK3	4140	broad.mit.edu	37	14	103918266	103918266	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr14:103918266G>A	uc001ymz.4	+	4	1024	c.358G>A	c.(358-360)Gaa>Aaa	p.E120K	MARK3_uc001ymx.4_Missense_Mutation_p.E120K|MARK3_uc001ymw.4_Missense_Mutation_p.E120K|MARK3_uc001yna.4_Missense_Mutation_p.E120K|MARK3_uc001ymy.4_Missense_Mutation_p.E120K|MARK3_uc010awp.3_Missense_Mutation_p.E120K	NM_001128918	NP_001122390	P27448	MARK3_HUMAN	Homo sapiens MAP/microtubule affinity-regulating kinase 3 (MARK3), transcript variant 1, mRNA.	120	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity	p.E120K(7)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30		Melanoma(154;0.155)	Epithelial(46;0.241)			GAAGTTATTCGAAGTCATTGA	0.353000														101			78		0	0	0.014410	0	0
CACNA1S	779	broad.mit.edu	37	1	201060870	201060870	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:201060870G>A	uc001gvv.3	-	4	819	c.592C>T	c.(592-594)Cac>Tac	p.H198Y		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1S subunit (CACNA1S), mRNA.	198					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	AGGGCGATGTGAAAGAGGGGG	0.552000														1			62		0	0	0.014410	0	0
CORIN	10699	broad.mit.edu	37	4	47765593	47765593	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr4:47765593C>T	uc003gxm.3	-	3	513	c.420G>A	c.(418-420)atG>atA	p.M140I	CORIN_uc011bzf.2_Missense_Mutation_p.M1I|CORIN_uc011bzg.2_Missense_Mutation_p.M73I|CORIN_uc011bzh.1_Missense_Mutation_p.M140I|CORIN_uc011bzi.1_Missense_Mutation_p.M140I|CORIN_uc003gxn.4_Missense_Mutation_p.M140I	NM_006587	NP_006578	Q9Y5Q5	CORIN_HUMAN	Homo sapiens corin, serine peptidase (CORIN), mRNA.	140	FZ 1.				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						GGGTGATGTTCATACAGGCAC	0.418000														47			54		0	0	0.014410	0	0
RSPO2	340419	broad.mit.edu	37	8	108970382	108970382	+	Missense_Mutation	SNP	A	C	C			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr8:108970382A>C	uc003yms.3	-	4	1200	c.542T>G	c.(541-543)gTg>gGg	p.V181G	RSPO2_uc003ymq.3_Missense_Mutation_p.V114G|RSPO2_uc003ymr.3_Missense_Mutation_p.V117G	NM_178565	NP_848660	Q6UXX9	RSPO2_HUMAN	Homo sapiens R-spondin 2 (RSPO2), mRNA.	181	TSP type-1.				Wnt receptor signaling pathway	extracellular region	heparin binding		EIF3E/RSPO2(6)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	28			OV - Ovarian serous cystadenocarcinoma(57;1.55e-09)			TGTGTCTTTCACTGGCTTTTT	0.438000														66			43		0	0	0.014410	0	0
RRAD	6236	broad.mit.edu	37	16	66956003	66956004	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr16:66956003_66956004GG>AA	uc002eqn.2	-	4	1054_1055	c.902_903CC>TT	c.(901-903)tcc>tTT	p.S301F	RRAD_uc002eqo.2_Missense_Mutation_p.S301F	NM_001128850	NP_004156	P55042	RAD_HUMAN	Homo sapiens Ras-related associated with diabetes (RRAD), transcript variant 1, mRNA.	301					small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity|calmodulin binding			endometrium(2)|kidney(4)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|urinary_tract(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0862)|Epithelial(162;0.198)		GGTCGTGGCAGGACTTGGATTT	0.634000														10			9		0	0	0.004672	0	0
ANGPT4	51378	broad.mit.edu	37	20	861886	861886	+	Silent	SNP	C	T	T	rs148851474		TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr20:861886C>T	uc002wei.3	-	4	982	c.879G>A	c.(877-879)gaG>gaA	p.E293E	ANGPT4_uc010zpn.2_Silent_p.E287E	NM_015985	NP_057069	Q9Y264	ANGP4_HUMAN	Homo sapiens angiopoietin 4 (ANGPT4), mRNA.	293	Fibrinogen C-terminal.				anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction	extracellular space	receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						AGCGCTGGATCTCTGCACAGT	0.572000														27			15		0	0	0.004990	0	0
OR10K2	391107	broad.mit.edu	37	1	158390140	158390140	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:158390140G>A	uc010pii.2	-	0	517	c.517C>T	c.(517-519)Caa>Taa	p.Q173*		NM_001004476	NP_001004476	Q6IF99	O10K2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily K, member 2 (OR10K2), mRNA.	173					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_hematologic(112;0.0378)					TGATGTAGTTGATTGGAGGAA	0.463000														4			96		0	0	0.014410	0	0
BMS1	9790	broad.mit.edu	37	10	43312841	43312841	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr10:43312841G>A	uc001jaj.3	+	14	2837	c.2479G>A	c.(2479-2481)Gat>Aat	p.D827N		NM_014753	NP_055568	Q14692	BMS1_HUMAN	Homo sapiens BMS1 homolog, ribosome assembly protein (yeast) (BMS1), mRNA.	827					ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						AAAGCATTTGGATAAGAAGAG	0.328000														23			11		0	0	0.001855	0	0
FAM135B	51059	broad.mit.edu	37	8	139153455	139153455	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr8:139153455G>A	uc003yuy.3	-	16	3947	c.3776C>T	c.(3775-3777)aCc>aTc	p.T1259I	FAM135B_uc003yux.3_Missense_Mutation_p.T1160I|FAM135B_uc003yuz.3_Non-coding_Transcript	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA.	1259								p.T1259T(1)		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)			ACTAACCAGGGTGCTGTTGTT	0.542000										HNSCC(54;0.14)				19			17		0	0	0.007413	0	0
NLRP3	114548	broad.mit.edu	37	1	247582364	247582364	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:247582364G>A	uc001icr.3	+	2	406	c.268G>A	c.(268-270)Gat>Aat	p.D90N	NLRP3_uc001ics.3_Missense_Mutation_p.D90N|NLRP3_uc001icu.3_Missense_Mutation_p.D90N|NLRP3_uc001icw.3_Missense_Mutation_p.D90N|NLRP3_uc001icv.3_Missense_Mutation_p.D90N|NLRP3_uc010pyw.2_Missense_Mutation_p.D88N|NLRP3_uc001ict.1_Missense_Mutation_p.D88N	NM_001079821	NP_001230062	Q96P20	NALP3_HUMAN	Homo sapiens NLR family, pyrin domain containing 3 (NLRP3), transcript variant 3, mRNA.	90	DAPIN.				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			AGCAAAAAGAGATGAGCCGAA	0.423000														2			50		0	0	0.014410	0	0
LRIG2	9860	broad.mit.edu	37	1	113662058	113662058	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:113662058C>T	uc001edf.1	+	16	3082	c.2884C>T	c.(2884-2886)Ccg>Tcg	p.P962S	LRIG2_uc009wgn.1_Missense_Mutation_p.P859S	NM_014813	NP_055628	O94898	LRIG2_HUMAN	Homo sapiens leucine-rich repeats and immunoglobulin-like domains 2 (LRIG2), mRNA.	962						cytoplasm|integral to membrane|plasma membrane				breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		GAGCCTGATACCGTCAGCCAA	0.493000														45			33		0	0	0.013726	0	0
ALOX12	239	broad.mit.edu	37	17	6902131	6902131	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr17:6902131G>A	uc002gdx.4	+	3	570	c.517G>A	c.(517-519)Gac>Aac	p.D173N	LOC100506713_uc021tou.1_Intron	NM_000697	NP_000688	P18054	LOX12_HUMAN	Homo sapiens arachidonate 12-lipoxygenase (ALOX12), mRNA.	173	Lipoxygenase.				anti-apoptosis|cellular component movement|fatty acid oxidation|leukotriene biosynthetic process|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of cell proliferation|superoxide anion generation	cytosol|sarcolemma	arachidonate 12-lipoxygenase activity|hepoxilin-epoxide hydrolase activity|iron ion binding|lipoxygenase activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)|urinary_tract(1)	19						GAAGAGGCTGGACTTTGAATG	0.522000														25			12		0	0	0.003163	0	0
MEPE	56955	broad.mit.edu	37	4	88766655	88766655	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr4:88766655G>A	uc021xpx.1	+	3	740	c.728G>A	c.(727-729)aGc>aAc	p.S243N	MEPE_uc021xpu.1_Missense_Mutation_p.S212N|MEPE_uc021xpv.1_Missense_Mutation_p.S99N|MEPE_uc021xpw.1_Missense_Mutation_p.S99N|MEPE_uc010ikn.3_Missense_Mutation_p.S99N|MEPE_uc003hqy.3_Missense_Mutation_p.S212N|MEPE_uc021xpy.1_Missense_Mutation_p.S99N	NM_001184697	NP_001171626	Q9NQ76	MEPE_HUMAN	Homo sapiens matrix extracellular phosphoglycoprotein (MEPE), transcript variant 5, mRNA.	212					skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000432)		AAAAGCAAAAGCACCCATCGT	0.383000														31			24		0	0	0.002780	0	0
IBSP	3381	broad.mit.edu	37	4	88732550	88732550	+	Missense_Mutation	SNP	G	A	A	rs144185482		TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr4:88732550G>A	uc003hqx.4	+	6	540	c.442G>A	c.(442-444)Gaa>Aaa	p.E148K		NM_004967	NP_004958	P21815	SIAL_HUMAN	Homo sapiens integrin-binding sialoprotein (IBSP), mRNA.	148	Asp/Glu-rich (acidic).				biomineral tissue development|cell adhesion|ossification					breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)	21		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000333)|COAD - Colon adenocarcinoma(81;0.154)		AAAAGAGAAGGAAAGTGATga	0.398000														15			12		0	0	0.013537	0	0
ZC3H12C	85463	broad.mit.edu	37	11	110035405	110035405	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:110035405C>T	uc010rwc.2	+	5	1598	c.1598C>T	c.(1597-1599)cCc>cTc	p.P533L	ZC3H12C_uc009yxw.3_Missense_Mutation_p.P532L|ZC3H12C_uc010rwd.2_Missense_Mutation_p.P533L|ZC3H12C_uc001pkr.4_Missense_Mutation_p.P501L	NM_033390	NP_203748	Q9C0D7	ZC12C_HUMAN	Homo sapiens zinc finger CCCH-type containing 12C (ZC3H12C), mRNA.	532							endonuclease activity|nucleic acid binding|zinc ion binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)		ACTGCAAAACCCCAAAGCACT	0.443000														4			35		0	0	0.003271	0	0
KLK6	5653	broad.mit.edu	37	19	51465129	51465129	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:51465129G>A	uc002puh.3	-	3	545	c.480C>T	c.(478-480)ttC>ttT	p.F160F	KLK6_uc010eoj.3_Intron|KLK6_uc002pui.3_Silent_p.F151F|KLK6_uc002puj.3_Silent_p.F44F|KLK6_uc010ycn.2_Silent_p.F44F|KLK6_uc002pul.3_Silent_p.F151F|KLK6_uc002pum.3_Silent_p.F44F	NM_001012965	NP_001012983	Q92876	KLK6_HUMAN	Homo sapiens kallikrein-related peptidase 6 (KLK6), transcript variant C, mRNA.	151	Peptidase S1.				amyloid precursor protein metabolic process|central nervous system development|collagen catabolic process|hormone metabolic process|myelination|positive regulation of G-protein coupled receptor protein signaling pathway|protein autoprocessing|proteolysis|regulation of cell differentiation|tissue regeneration	endoplasmic reticulum|extracellular region|microsome|mitochondrion|nucleolus	protein binding|serine-type endopeptidase activity			endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|skin(4)	13		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00372)|GBM - Glioblastoma multiforme(134;0.00871)		TGGTGTCAGGGAAATCACCTG	0.587000														21			24		0	0	0.003954	0	0
RANBP9	10048	broad.mit.edu	37	6	13697093	13697093	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr6:13697093G>A	uc003nbb.3	-	1	666	c.607C>T	c.(607-609)Cga>Tga	p.R203*	RANBP9_uc003nba.3_5'UTR	NM_005493	NP_005484	Q96S59	RANB9_HUMAN	Homo sapiens RAN binding protein 9 (RANBP9), mRNA.	203	B30.2/SPRY.				axon guidance|microtubule nucleation|protein complex assembly	cytosol|microtubule associated complex|nucleus	Ran GTPase binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	16	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	Epithelial(50;0.223)			TGCGTGGCTCGAACTGACGCG	0.393000														130			41		0	0	0.014410	0	0
TMEM132B	114795	broad.mit.edu	37	12	126138670	126138670	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:126138670C>T	uc001uhe.1	+	8	2659	c.2651C>T	c.(2650-2652)cCt>cTt	p.P884L	TMEM132B_uc001uhf.1_Missense_Mutation_p.P396L	NM_052907	NP_443139	Q14DG7	T132B_HUMAN	Homo sapiens transmembrane protein 132B (TMEM132B), mRNA.	884						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		CCCAATAATCCTAGTGACCTC	0.507000														34			27		0	0	0.006320	0	0
EVI5L	115704	broad.mit.edu	37	19	7911465	7911465	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:7911465C>T	uc010xjz.2	+	0	84	c.37C>T	c.(37-39)Cag>Tag	p.Q13*	EVI5L_uc002min.3_Nonsense_Mutation_p.Q13*	NM_001159944	NP_001153416	Q96CN4	EVI5L_HUMAN	Homo sapiens ecotropic viral integration site 5-like (EVI5L), transcript variant 1, mRNA.	13						intracellular	Rab GTPase activator activity|protein binding			breast(1)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	12						CTCCTCATCCCAGGAGGCCCT	0.652000														17			21		0	0	0.002780	0	0
ZNF682	91120	broad.mit.edu	37	19	20117432	20117432	+	Silent	SNP	C	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:20117432C>A	uc002noq.3	-	3	1002	c.879G>T	c.(877-879)gcG>gcT	p.A293A	ZNF682_uc002noo.3_Silent_p.A261A|ZNF682_uc002nop.3_Silent_p.A261A|ZNF682_uc010eck.3_Silent_p.A217A	NM_033196	NP_001070817	O95780	ZN682_HUMAN	Homo sapiens zinc finger protein 682 (ZNF682), transcript variant 1, mRNA.	293					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	14						GCCGGTTAAACGCTCTGCCAC	0.408000														48			32		1.66425e-11	2.2495e-11	0.004878	1	0
ZNF768	79724	broad.mit.edu	37	16	30536828	30536829	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr16:30536828_30536829GG>AA	uc002dyk.4	-	1	808_809	c.632_633CC>TT	c.(631-633)ccc>cTT	p.P211L	ZNF768_uc010vex.2_Missense_Mutation_p.P180L|ZNF768_uc010vew.2_Missense_Mutation_p.P180L	NM_024671	NP_078947	Q9H5H4	ZN768_HUMAN	Homo sapiens zinc finger protein 768 (ZNF768), mRNA.	211					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						GTGGCCCTATGGGCAGGTCCCC	0.584000														50			29		0	0	0.004672	0	0
SLC17A3	10786	broad.mit.edu	37	6	25849679	25849679	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr6:25849679G>A	uc003nfk.4	-	10	1395	c.1285C>T	c.(1285-1287)Ctc>Ttc	p.L429F	SLC17A3_uc003nfi.4_Missense_Mutation_p.L351F	NM_001098486	NP_001091956	O00476	NPT4_HUMAN	Homo sapiens solute carrier family 17 (sodium phosphate), member 3 (SLC17A3), transcript variant 1, mRNA.	351					glucose-6-phosphate transport|urate metabolic process	apical plasma membrane|brush border membrane|endoplasmic reticulum membrane|integral to plasma membrane|perinuclear region of cytoplasm	drug transmembrane transporter activity|efflux transmembrane transporter activity|organic anion transmembrane transporter activity|sodium:phosphate symporter activity|toxin transporter activity|urate transmembrane transporter activity|voltage-gated anion channel activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)	20						GCTCCCATGAGAAAACTGGAA	0.428000														27			18		0	0	0.002780	0	0
FNBP1L	54874	broad.mit.edu	37	1	93996314	93996314	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:93996314C>T	uc010otk.2	+	6	664	c.513C>T	c.(511-513)gcC>gcT	p.A171A	FNBP1L_uc001dpv.3_Silent_p.A171A|FNBP1L_uc001dpw.3_Silent_p.A171A	NM_001164473	NP_001157945	Q5T0N5	FBP1L_HUMAN	Homo sapiens formin binding protein 1-like (FNBP1L), transcript variant 3, mRNA.	171	Induction of membrane tubulation (By similarity).				endocytosis	cell cortex|cytoplasmic membrane-bounded vesicle|cytoskeleton|plasma membrane	lipid binding			breast(2)|kidney(2)|large_intestine(4)|lung(2)|urinary_tract(1)	11		all_lung(203;0.00206)|Lung NSC(277;0.00902)|Melanoma(281;0.155)		all cancers(265;0.00666)|GBM - Glioblastoma multiforme(16;0.0378)|Epithelial(280;0.111)		GCCCCTAGGCCAAACAGCAGT	0.313000														1			9		0	0	0.013537	0	0
FAM47B	170062	broad.mit.edu	37	X	34961803	34961803	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:34961803G>A	uc004ddi.2	+	0	891	c.855G>A	c.(853-855)ccG>ccA	p.P285P		NM_152631	NP_689844	Q8NA70	FA47B_HUMAN	Homo sapiens family with sequence similarity 47, member B (FAM47B), mRNA.	285	Pro-rich.									breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						ATCTCTGCCCGGAGCCTCCCG	0.622000														35			32		0	0	0.013726	0	0
LAMC3	10319	broad.mit.edu	37	9	133907434	133907434	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr9:133907434G>A	uc004caa.1	+	2	779	c.681G>A	c.(679-681)gaG>gaA	p.E227E		NM_006059	NP_006050	Q9Y6N6	LAMC3_HUMAN	Homo sapiens laminin, gamma 3 (LAMC3), mRNA.	227	Laminin N-terminal.				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)		TGCCCCAGGAGTGGGTCACCA	0.577000														6			49		0	0	0.014410	0	0
CENPC1	1060	broad.mit.edu	37	4	68379911	68379911	+	Missense_Mutation	SNP	T	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr4:68379911T>A	uc003hdd.1	-	7	1508	c.1325A>T	c.(1324-1326)gAa>gTa	p.E442V	CENPC1_uc010ihj.1_Non-coding_Transcript|CENPC1_uc010ihk.1_Non-coding_Transcript|CENPC1_uc010ihm.1_Missense_Mutation_p.E442V	NM_001812	NP_001803	Q03188	CENPC_HUMAN	Homo sapiens centromere protein C 1 (CENPC1), mRNA.	442					mitotic prometaphase	condensed chromosome kinetochore|condensed nuclear chromosome, centromeric region|cytosol	DNA binding			NS(1)|breast(1)|kidney(5)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	23						ATGTATGTTTTCATCTTTAGA	0.348000														16			18		0	0	0.007413	0	0
DQ656008	0	broad.mit.edu	37	11	5142614	5142614	+	RNA	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:5142614G>A	uc001maa.3	-	3		c.785C>T								Homo sapiens clone Affy08256A04, mRNA sequence.																		TGGCCAGGAAGATATACATGG	0.418000														28			23		0	0	0.003330	0	0
OR7C2	26658	broad.mit.edu	37	19	15052942	15052942	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:15052942C>T	uc010xoc.2	+	0	642	c.642C>T	c.(640-642)atC>atT	p.I214I		NM_012377	NP_036509	O60412	OR7C2_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily C, member 2 (OR7C2), mRNA.	214					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(8)|ovary(2)|skin(2)	15	Ovarian(108;0.203)					TCTGTGGAATCCTATTCTCTT	0.473000														41			29		0	0	0.006320	0	0
PCDHB10	56126	broad.mit.edu	37	5	140572553	140572553	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:140572553C>T	uc003lix.3	+	0	602	c.428C>T	c.(427-429)tCa>tTa	p.S143L		NM_018930	NP_061753	Q9UN67	PCDBA_HUMAN	Homo sapiens protocadherin beta 10 (PCDHB10), mRNA.	143	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTAAAAATATCAGAAAATACA	0.433000														49			29		0	0	0.009535	0	0
FGD5	152273	broad.mit.edu	37	3	14939498	14939498	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:14939498G>A	uc003bzc.3	+	5	3072	c.2962G>A	c.(2962-2964)Gat>Aat	p.D988N	FGD5_uc011avk.2_Missense_Mutation_p.D988N|FGD5_uc003bzd.3_Missense_Mutation_p.D66N	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 5 (FGD5), mRNA.	988	DH.				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	Golgi apparatus|cytoskeleton|lamellipodium|ruffle	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding	p.D747H(1)		NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						GCAGGGGTTTGATCACCACGC	0.587000														27			27		0	0	0.005443	0	0
MUC16	94025	broad.mit.edu	37	19	9069395	9069395	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:9069395C>T	uc002mkp.3	-	2	18255	c.18051G>A	c.(18049-18051)ggG>ggA	p.G6017G		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	6019	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						AATTGGTGGTCCCCATATTGG	0.458000														132			81		0	0	0.014410	0	0
COL6A6	131873	broad.mit.edu	37	3	130282324	130282324	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:130282324G>A	uc010htl.3	+	1	508	c.477G>A	c.(475-477)gtG>gtA	p.V159V		NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	Homo sapiens collagen, type VI, alpha 6 (COL6A6), mRNA.	159	Nonhelical region.|VWFA 1.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						AAGACGGAGTGAAAATCATCT	0.493000														33			17		0	0	0.006122	0	0
F8	2157	broad.mit.edu	37	X	154157927	154157927	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:154157927C>T	uc004fmt.3	-	13	4309	c.4138G>A	c.(4138-4140)Gag>Aag	p.E1380K		NM_000132	NP_000123	P00451	FA8_HUMAN	Homo sapiens coagulation factor VIII, procoagulant component (F8), transcript variant 1, mRNA.	1380	B.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	GCCCCTTTCTCCTTCTCATTG	0.443000														163			65		0	0	0.014410	0	0
ARMC4	55130	broad.mit.edu	37	10	28283985	28283985	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr10:28283985C>T	uc009xky.3	-	1	185	c.87G>A	c.(85-87)gcG>gcA	p.A29A	ARMC4_uc001itz.3_Silent_p.A29A	NM_018076	NP_060546	Q5T2S8	ARMC4_HUMAN	Homo sapiens armadillo repeat containing 4 (ARMC4), mRNA.	29							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						CTTTCAATATCGCTTCATTTA	0.433000														29			15		0	0	0.006122	0	0
ULK1	8408	broad.mit.edu	37	12	132394824	132394824	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:132394824C>T	uc001uje.3	+	10	1102	c.834C>T	c.(832-834)ctC>ctT	p.L278L		NM_003565	NP_003556	O75385	ULK1_HUMAN	Homo sapiens unc-51-like kinase 1 (C. elegans) (ULK1), mRNA.	278	Protein kinase.				autophagy|protein localization|regulation of autophagy	ULK1-ATG13-FIP200 complex|autophagic vacuole|cytosol|pre-autophagosomal structure	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)		ACCCTTTCCTCGATGCCAGCC	0.632000														65			67		0	0	0.014410	0	0
ARID5B	84159	broad.mit.edu	37	10	63852113	63852113	+	Missense_Mutation	SNP	G	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr10:63852113G>T	uc001jlt.2	+	9	3347	c.2891G>T	c.(2890-2892)gGc>gTc	p.G964V	ARID5B_uc001jlu.2_Missense_Mutation_p.G721V	NM_032199	NP_115575	Q14865	ARI5B_HUMAN	Homo sapiens AT rich interactive domain 5B (MRF1-like) (ARID5B), transcript variant 1, mRNA.	964					liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding			NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					ACCATGTCAGGCCCTAAAAAA	0.522000														41			52		1.32667e-27	1.80489e-27	0.014410	1	0
CDX2	1045	broad.mit.edu	37	13	28539094	28539094	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr13:28539094C>T	uc001urv.3	-	1	774	c.600G>A	c.(598-600)gaG>gaA	p.E200E		NM_001265	NP_001256	Q99626	CDX2_HUMAN	Homo sapiens caudal type homeobox 2 (CDX2), mRNA.	200					organ morphogenesis|transcription from RNA polymerase II promoter		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(1)|lung(6)	9	all_cancers(110;0.191)|all_hematologic(3;0.0447)|Acute lymphoblastic leukemia(6;0.155)	Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	GBM - Glioblastoma multiforme(144;0.0407)|all cancers(112;0.0491)|OV - Ovarian serous cystadenocarcinoma(117;0.199)		CCTTCTCCAGCTCCAGCCGCT	0.582000			T	ETV6	AML									14			6		0	0	0.001984	0	0
KRTAP1-3	81850	broad.mit.edu	37	17	39190932	39190932	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr17:39190932G>A	uc002hvv.3	-	0	176	c.142C>T	c.(142-144)Cct>Tct	p.P48S		NM_030966	NP_112228	Q8IUG1	KRA13_HUMAN	Homo sapiens keratin associated protein 1-3 (KRTAP1-3), mRNA.	58			Missing (in allele KAP1.1).			extracellular region|keratin filament	structural constituent of epidermis			cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(6)	12		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			GAGAAGCTAGGAAATCCGCAG	0.622000														37			34		0	0	0.003271	0	0
POTEH	23784	broad.mit.edu	37	22	16287490	16287490	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr22:16287490C>T	uc010gqp.2	-	0	448	c.396G>A	c.(394-396)agG>agA	p.R132R	POTEH_uc002zlg.1_5'Flank|POTEH_uc002zlh.1_5'Flank|POTEH_uc002zlj.1_Intron	NM_001136213	NP_001129685	Q6S545	POTEH_HUMAN	Homo sapiens POTE ankyrin domain family, member H (POTEH), mRNA.	132								p.R132K(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						CCATCTTGCTCCTGAGTGTCT	0.612000														249			62		0	0	0.014410	0	0
COL18A1	80781	broad.mit.edu	37	21	46927503	46927503	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr21:46927503G>A	uc002zhi.3	+	36	3806	c.3785G>A	c.(3784-3786)gGg>gAg	p.G1262E	COL18A1_uc002zhg.3_Missense_Mutation_p.G1082E|SLC19A1_uc010gpy.1_Intron|COL18A1_uc002zhj.3_Missense_Mutation_p.G60E|COL18A1_uc002zhk.3_5'UTR	NM_030582	NP_085059	P39060	COIA1_HUMAN	Homo sapiens collagen, type XVIII, alpha 1 (COL18A1), transcript variant 1, mRNA.	1497	Triple-helical region 6 (COL6).				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		CTCCCACGAGGGACGGTAAGG	0.617000														6			5		0	0	0.001168	0	0
CSMD1	64478	broad.mit.edu	37	8	3141826	3141826	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr8:3141826G>A	uc022aqr.1	-	25	4383	c.3993C>T	c.(3991-3993)atC>atT	p.I1331I	CSMD1_uc011kwj.2_Silent_p.I724I|CSMD1_uc003wqe.3_Silent_p.I488I	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	1332	CUB 8.					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)		AGACCTTGAGGATGTCGTGAG	0.567000											OREG0018505	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		18			19		0	0	0.002780	0	0
PRPF40B	25766	broad.mit.edu	37	12	50031265	50031265	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:50031265G>A	uc001rur.1	+	15	1570	c.1507G>A	c.(1507-1509)Gag>Aag	p.E503K	PRPF40B_uc001rup.1_Missense_Mutation_p.E525K|PRPF40B_uc001ruq.1_Missense_Mutation_p.E497K|PRPF40B_uc001rus.1_Missense_Mutation_p.E446K	NM_001031698	NP_001026868	Q6NWY9	PR40B_HUMAN	Homo sapiens PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae) (PRPF40B), transcript variant 1, mRNA.	503	FF 2.				RNA splicing|mRNA processing	nuclear speck				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						CTTCCTGGACGAGCTGCATGA	0.582000											OREG0021797	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		15			19		0	0	0.008871	0	0
UMOD	7369	broad.mit.edu	37	16	20360449	20360449	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr16:20360449G>A	uc002dhb.3	-	3	402	c.273C>T	c.(271-273)ggC>ggT	p.G91G	UMOD_uc002dgz.3_Silent_p.G58G|UMOD_uc002dha.3_Silent_p.G58G	NM_003361	NP_003352	P07911	UROM_HUMAN	Homo sapiens uromodulin (UMOD), transcript variant 1, mRNA.	58	EGF-like 2; calcium-binding (Potential).				cellular defense response|negative regulation of cell proliferation	anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole	calcium ion binding			endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						TCAGGCCATCGCCGGTGAAGC	0.597000														10			8		0	0	0.004482	0	0
BSPRY	54836	broad.mit.edu	37	9	116132362	116132363	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr9:116132362_116132363CC>TT	uc004bhg.4	+	5	1197_1198	c.1149_1150CC>TT	c.(1147-1152)ttcccg>ttTTcg	p.P384S	BSPRY_uc010muw.3_3'UTR	NM_017688	NP_060158	Q5W0U4	BSPRY_HUMAN	Homo sapiens B-box and SPRY domain containing (BSPRY), mRNA.	384	B30.2/SPRY.				calcium ion transport	cytoplasm|membrane	zinc ion binding	p.P384P(1)		breast(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						ATGTGTCCTTCCCGGGGCCCCT	0.619000														3			30		0	0	0.004672	0	0
CLK2	1196	broad.mit.edu	37	1	155239408	155239408	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:155239408G>A	uc001fjy.3	-	2	560	c.270C>T	c.(268-270)taC>taT	p.Y90Y	CLK2_uc001fjw.3_Silent_p.Y90Y|CLK2_uc001fjx.3_5'UTR|CLK2_uc009wqm.3_Silent_p.Y90Y	NM_003993	NP_003984	P49760	CLK2_HUMAN	Homo sapiens CDC-like kinase 2 (CLK2), mRNA.	90						nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	22	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CTGTGTCATAGTAGGCATCTC	0.572000								Other conserved DNA damage response genes						9			261		0	0	0.014410	0	0
COL28A1	340267	broad.mit.edu	37	7	7571074	7571074	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:7571074C>T	uc003src.1	-	2	703	c.586G>A	c.(586-588)Gaa>Aaa	p.E196K	COL28A1_uc011jxe.1_5'UTR	NM_001037763	NP_001032852	Q2UY09	COSA1_HUMAN	Homo sapiens collagen, type XXVIII, alpha 1 (COL28A1), mRNA.	196	VWFA 1.				cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		AGTTTGGCTTCATTGACTACC	0.398000														23			40		0	0	0.006230	0	0
DAB2	1601	broad.mit.edu	37	5	39377290	39377290	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:39377290C>T	uc003jlx.3	-	11	2130	c.1599G>A	c.(1597-1599)atG>atA	p.M533I	DAB2_uc003jlw.3_Missense_Mutation_p.M512I	NM_001343	NP_001334	P98082	DAB2_HUMAN	Homo sapiens disabled homolog 2, mitogen-responsive phosphoprotein (Drosophila) (DAB2), transcript variant 1, mRNA.	533					cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent	clathrin coated vesicle membrane|coated pit	protein C-terminus binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			GTTGACCACCCATCATGGCTC	0.527000														32			39		0	0	0.007835	0	0
MUC2	4583	broad.mit.edu	37	11	1087502	1087502	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:1087502G>A	uc001lsx.1	+	23	3280	c.3253G>A	c.(3253-3255)Ggt>Agt	p.G1085S		NM_002457	NP_002448	Q02817	MUC2_HUMAN	Homo sapiens mucin 2, oligomeric mucus/gel-forming (MUC2), mRNA.	1085						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	CTGTGACACGGGTGGGGACTG	0.662000														16			16		0	0	0.004990	0	0
DNAH5	1767	broad.mit.edu	37	5	13841099	13841099	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:13841099C>T	uc003jfd.2	-	33	5667	c.5625G>A	c.(5623-5625)acG>acA	p.T1875T		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	1875	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)					TCAGATCCCTCGTGGTGACGT	0.393000									Kartagener syndrome					42			26		0	0	0.006320	0	0
CEL	1056	broad.mit.edu	37	9	135942235	135942235	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr9:135942235C>T	uc010naa.1	+	5	705	c.689C>T	c.(688-690)cCc>cTc	p.P230L		NM_001807	NP_001798	P19835	CEL_HUMAN	Homo sapiens carboxyl ester lipase (bile salt-stimulated lipase) (CEL), mRNA.	227					cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification	cytosol|extracellular space	acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)		ACCCTCTCCCCCTACAACAAG	0.637000														5			29		0	0	0.009535	0	0
DDX4	54514	broad.mit.edu	37	5	55109503	55109503	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:55109503G>A	uc003jqg.4	+	18	1717	c.1618G>A	c.(1618-1620)Gat>Aat	p.D540N	DDX4_uc010ivz.3_Missense_Mutation_p.D520N|DDX4_uc003jqh.4_Missense_Mutation_p.D506N|DDX4_uc003jqj.3_Missense_Mutation_p.D391N	NM_024415	NP_077726	Q9NQI0	DDX4_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 4 (DDX4), transcript variant 1, mRNA.	540	Helicase C-terminal.				multicellular organismal development|sperm motility	perinuclear region of cytoplasm|pi-body|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)				TCTTGTAGGGGATGAAAGAAC	0.313000														109			77		0	0	0.014410	0	0
COL28A1	340267	broad.mit.edu	37	7	7457503	7457503	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:7457503G>A	uc003src.1	-	26	2240	c.2123C>T	c.(2122-2124)tCa>tTa	p.S708L	COL28A1_uc011jxe.1_Missense_Mutation_p.S391L|COL28A1_uc003srd.3_Missense_Mutation_p.S263L	NM_001037763	NP_001032852	Q2UY09	COSA1_HUMAN	Homo sapiens collagen, type XXVIII, alpha 1 (COL28A1), mRNA.	708					cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		AATTCCCTGTGATCCATAGCC	0.468000														32			49		0	0	0.014410	0	0
CACNA2D3	55799	broad.mit.edu	37	3	54661835	54661835	+	Missense_Mutation	SNP	A	C	C			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:54661835A>C	uc003dhf.3	+	9	1033	c.985A>C	c.(985-987)Aaa>Caa	p.K329Q	CACNA2D3_uc011beu.1_Non-coding_Transcript|CACNA2D3_uc003dhg.1_Missense_Mutation_p.K235Q|CACNA2D3_uc003dhh.1_Non-coding_Transcript|CACNA2D3_uc010hmv.1_Missense_Mutation_p.K63Q	NM_018398	NP_060868	Q8IZS8	CA2D3_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 3 (CACNA2D3), mRNA.	329	VWFA.					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)		GCATCTGGACAAACTTTTCGC	0.413000														6			6		0	0	0.001984	0	0
PTPRA	5786	broad.mit.edu	37	20	3005228	3005228	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr20:3005228C>T	uc010zqd.2	+	15	1925	c.1608C>T	c.(1606-1608)atC>atT	p.I536I	PTPRA_uc002whj.3_Silent_p.I525I|PTPRA_uc002whk.3_Silent_p.I516I|PTPRA_uc002whl.3_Silent_p.I516I|PTPRA_uc002whm.3_Silent_p.I292I|PTPRA_uc002whn.3_Silent_p.I516I|PTPRA_uc002who.3_Silent_p.I188I	NM_002836	NP_002827	P18433	PTPRA_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, A (PTPRA), transcript variant 1, mRNA.	525	Tyrosine-protein phosphatase 2.				axon guidance|protein phosphorylation	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						ACAACAAAATCCCAGGGACCA	0.443000														53			60		0	0	0.014410	0	0
EPHA6	285220	broad.mit.edu	37	3	96706553	96706553	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:96706553G>A	uc010how.1	+	2	873	c.830G>A	c.(829-831)gGa>gAa	p.G277E	EPHA6_uc003drp.1_Missense_Mutation_p.G277E	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	Homo sapiens EPH receptor A6 (EPHA6), transcript variant 1, mRNA.	182						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						GAAAGGAAAGGATTTTATCTG	0.458000														143			93		0	0	0.014410	0	0
KMO	8564	broad.mit.edu	37	1	241755436	241755436	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:241755436C>T	uc009xgp.3	+	14	1753	c.1442C>T	c.(1441-1443)tCc>tTc	p.S481F		NM_003679	NP_003670	O15229	KMO_HUMAN	Homo sapiens kynurenine 3-monooxygenase (kynurenine 3-hydroxylase) (KMO), mRNA.	481					pyridine nucleotide biosynthetic process|response to salt stress	cytosol|integral to membrane|mitochondrial outer membrane	NAD(P)H oxidase activity|electron carrier activity|flavin adenine dinucleotide binding|kynurenine 3-monooxygenase activity			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Ovarian(103;0.103)|all_lung(81;0.23)		OV - Ovarian serous cystadenocarcinoma(106;0.0176)			GAACAAATTTCCAATCTCATT	0.418000														2			42		0	0	0.009718	0	0
RPN2	6185	broad.mit.edu	37	20	35838557	35838557	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr20:35838557C>T	uc002xgp.3	+	7	1279	c.975C>T	c.(973-975)ttC>ttT	p.F325F	RPN2_uc010gfw.2_Silent_p.F168F|RPN2_uc002xgq.3_Silent_p.F293F|RPN2_uc021wdb.1_Silent_p.F107F	NM_002951	NP_002942	P04844	RPN2_HUMAN	Homo sapiens ribophorin II (RPN2), transcript variant 1, mRNA.	325					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|nucleus|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(2)|stomach(1)	24		Myeloproliferative disorder(115;0.00878)				AGACATCCTTCACCCCTGTAG	0.468000														45			36		0	0	0.003755	0	0
DCLK3	85443	broad.mit.edu	37	3	36778708	36778708	+	Missense_Mutation	SNP	T	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:36778708T>A	uc003cgi.2	-	1	1934	c.1443A>T	c.(1441-1443)gaA>gaT	p.E481D		NM_033403	NP_208382	Q9C098	DCLK3_HUMAN	Homo sapiens doublecortin-like kinase 3 (DCLK3), mRNA.	481	Protein kinase.					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity	p.P480P(1)		breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						CCAAAAGGTTTTCCGGCTTGA	0.448000														16			22		0	0	0.004656	0	0
MAGEC3	139081	broad.mit.edu	37	X	140983291	140983291	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:140983291G>A	uc011mwp.2	+	5	1069	c.1069G>A	c.(1069-1071)Gaa>Aaa	p.E357K	MAGEC3_uc004fbs.3_Intron|MAGEC3_uc010nsj.3_5'Flank|MAGEC3_uc022cfh.1_5'Flank	NM_138702	NP_619647	Q8TD91	MAGC3_HUMAN	Homo sapiens melanoma antigen family C, 3 (MAGEC3), transcript variant 1, mRNA.	357	MAGE 1.							p.Q356K(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					CCACAGACAGGAAGATGGCCG	0.592000														11			32		0	0	0.012213	0	0
FRMPD4	9758	broad.mit.edu	37	X	12735962	12735962	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:12735962C>T	uc004cuz.2	+	15	3523	c.3017C>T	c.(3016-3018)tCg>tTg	p.S1006L	FRMPD4_uc011mij.2_Missense_Mutation_p.S998L	NM_014728	NP_055543	Q14CM0	FRPD4_HUMAN	Homo sapiens FERM and PDZ domain containing 4 (FRMPD4), mRNA.	1006					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						GAGACTAAGTCGGTCACTGAC	0.537000														66			68		0	0	0.014410	0	0
DMD	1756	broad.mit.edu	37	X	31190524	31190524	+	Silent	SNP	T	C	C			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:31190524T>C	uc004dda.1	-	72	10579	c.10335A>G	c.(10333-10335)gcA>gcG	p.A3445A	DMD_uc004dcq.1_Silent_p.A716A|DMD_uc004dcr.1_Intron|DMD_uc004dcs.1_Intron|DMD_uc004dct.1_Silent_p.A985A|DMD_uc004dcu.1_Silent_p.A985A|DMD_uc004dcv.1_Silent_p.A972A|DMD_uc004dcw.2_Silent_p.A2101A|DMD_uc004dcx.2_Silent_p.A2104A|DMD_uc004dcz.2_Silent_p.A3322A|DMD_uc004dcy.1_Silent_p.A3441A|DMD_uc004ddb.1_Silent_p.A3437A|DMD_uc004dcp.1_Silent_p.A364A|DMD_uc011mkb.1_Intron|DMD_uc004dcm.1_Silent_p.A377A|DMD_uc004dcn.1_Silent_p.A364A|DMD_uc004dco.1_Silent_p.A377A	NM_004006	NP_004001	P11532	DMD_HUMAN	Homo sapiens dystrophin (DMD), transcript variant Dp427m, mRNA.	3445					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TTTCCATTTCTGCTAGCCTGA	0.333000														18			15		0	0	0.002450	0	0
NOL4	8715	broad.mit.edu	37	18	31803000	31803000	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr18:31803000C>T	uc010dmi.3	-	0	516	c.218G>A	c.(217-219)gGa>gAa	p.G73E	NOL4_uc002kxr.4_5'Flank|NOL4_uc010xbt.2_5'Flank|NOL4_uc010dmh.3_5'Flank|NOL4_uc010xbu.2_Missense_Mutation_p.G73E|NOL4_uc002kxt.4_Missense_Mutation_p.G73E	NM_003787	NP_001185478	O94818	NOL4_HUMAN	Homo sapiens nucleolar protein 4 (NOL4), transcript variant 1, mRNA.	73						nucleolus	RNA binding			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						GCCGCCGCCTCCCCCGCGGAC	0.622000														26			20		0	0	0.008871	0	0
UGT2B4	7363	broad.mit.edu	37	4	70350973	70350973	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr4:70350973C>T	uc003hek.4	-	4	1310	c.1263G>A	c.(1261-1263)tcG>tcA	p.S421S	UGT2B4_uc011cap.2_Silent_p.S285S|UGT2B4_uc003hel.4_Intron	NM_021139	NP_066962	P06133	UD2B4_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B4 (UGT2B4), mRNA.	421					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						AGTCTGTACTCGACATTGTGT	0.418000														80			60		0	0	0.014410	0	0
AGPAT4	56895	broad.mit.edu	37	6	161575237	161575237	+	Missense_Mutation	SNP	G	A	A	rs143406726		TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr6:161575237G>A	uc003qtr.1	-	3	681	c.454C>T	c.(454-456)Cgc>Tgc	p.R152C	AGPAT4_uc003qts.1_Missense_Mutation_p.R12C|AGPAT4_uc011egb.1_Intron|AGPAT4_uc003qtt.1_Non-coding_Transcript|AGPAT4_uc011egc.1_Missense_Mutation_p.R152C|AGPAT4_uc011egd.1_Missense_Mutation_p.R90C|AGPAT4_uc011ege.1_Missense_Mutation_p.S95L	NM_020133	NP_064518	Q9NRZ5	PLCD_HUMAN	Homo sapiens 1-acylglycerol-3-phosphate O-acyltransferase 4 (lysophosphatidic acid acyltransferase, delta) (AGPAT4), mRNA.	152					phospholipid biosynthetic process	integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity|protein binding			endometrium(1)|large_intestine(10)|lung(10)|ovary(2)|skin(2)	25		Breast(66;0.000289)|Ovarian(120;0.0266)|Prostate(117;0.0285)		OV - Ovarian serous cystadenocarcinoma(65;2.23e-17)|BRCA - Breast invasive adenocarcinoma(81;3.58e-05)		ACCGTCTTGCGATCCTGCTCC	0.562000														6			32		0	0	0.004878	0	0
STAT4	6775	broad.mit.edu	37	2	191897687	191897687	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:191897687C>T	uc002usm.2	-	20	2356	c.2041G>A	c.(2041-2043)Gaa>Aaa	p.E681K	STAT4_uc002usn.2_Missense_Mutation_p.E681K|STAT4_uc010zgk.1_Missense_Mutation_p.E526K|STAT4_uc002uso.2_Missense_Mutation_p.E681K	NM_003151	NP_003142	Q14765	STAT4_HUMAN	Homo sapiens signal transducer and activator of transcription 4 (STAT4), transcript variant 1, mRNA.	681					JAK-STAT cascade	cytoplasm|nucleus	calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)			ACCTAACCTTCGCAAGGCTGA	0.363000														32			24		0	0	0.002780	0	0
SCG2	7857	broad.mit.edu	37	2	224463493	224463493	+	Missense_Mutation	SNP	A	G	G			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:224463493A>G	uc021vxk.1	-	0	508	c.508T>C	c.(508-510)Tat>Cat	p.Y170H	SCG2_uc002vnm.3_Missense_Mutation_p.Y170H	NM_003469	NP_003460	P13521	SCG2_HUMAN	Homo sapiens secretogranin II (SCG2), mRNA.	170					MAPKKK cascade|angiogenesis|endothelial cell migration|eosinophil chemotaxis|induction of positive chemotaxis|inflammatory response|negative regulation of apoptosis|negative regulation of endothelial cell proliferation|positive regulation of endothelial cell proliferation|protein secretion	extracellular space|stored secretory granule	chemoattractant activity|cytokine activity			NS(1)|breast(1)|endometrium(1)|kidney(6)|large_intestine(10)|liver(1)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	44		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)		TTCTCTTCATACATAGGAGGG	0.403000														76			49		0	0	0.014410	0	0
MMP19	4327	broad.mit.edu	37	12	56231370	56231370	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:56231370C>T	uc001sib.3	-	7	1278	c.1157G>A	c.(1156-1158)tGg>tAg	p.W386*	MMP19_uc001sia.3_Nonsense_Mutation_p.W100*|MMP19_uc001sid.3_Non-coding_Transcript|MMP19_uc010spw.2_Intron	NM_002429	NP_002420	Q99542	MMP19_HUMAN	Homo sapiens matrix metallopeptidase 19 (MMP19), transcript variant 1, mRNA.	386	Hemopexin-like 3.				angiogenesis|cell differentiation|collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	26						GTTGAGAGGCCAATAGAGAGC	0.458000														55			48		0	0	0.014410	0	0
C1orf74	148304	broad.mit.edu	37	1	209956583	209956583	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:209956583G>A	uc001hhp.1	-	1	640	c.397C>T	c.(397-399)Cag>Tag	p.Q133*	C1orf74_uc021pio.1_Nonsense_Mutation_p.Q133*	NM_152485	NP_689698	Q96LT6	CA074_HUMAN	Homo sapiens chromosome 1 open reading frame 74 (C1orf74), mRNA.	133										endometrium(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)	15				OV - Ovarian serous cystadenocarcinoma(81;0.0328)		TTCAAGTCCTGAAGCTGGTCC	0.547000														43			37		0	0	0.005524	0	0
LIPI	149998	broad.mit.edu	37	21	15561577	15561577	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr21:15561577G>A	uc002yjm.3	-	1	283	c.273C>T	c.(271-273)ttC>ttT	p.F91F	LIPI_uc021whg.1_Non-coding_Transcript|LIPI_uc010gkw.2_Silent_p.F70F|LIPI_uc021whh.1_Silent_p.F70F|LIPI_uc021whi.1_Intron|LIPI_uc021whj.1_Silent_p.F70F|LIPI_uc021whe.1_Silent_p.F70F|LIPI_uc021whf.1_Silent_p.F70F	NM_198996	NP_945347	Q6XZB0	LIPI_HUMAN	Homo sapiens lipase, member I (LIPI), mRNA.	70					lipid catabolic process	extracellular region|extracellular space|membrane|plasma membrane	heparin binding|phospholipase activity	p.F91F(2)		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)		TTTGTGTGTTGAAATTAACAT	0.383000														32			44		0	0	0.011902	0	0
ANK3	288	broad.mit.edu	37	10	62021678	62021678	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr10:62021678C>T	uc001jky.3	-	6	1075	c.737G>A	c.(736-738)gGa>gAa	p.G246E	ANK3_uc010qih.2_Missense_Mutation_p.G229E|ANK3_uc001jkz.4_Missense_Mutation_p.G240E|ANK3_uc001jlb.1_5'UTR	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	246					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						ATTGATATTTCCATAGTGAGC	0.468000														26			22		0	0	0.003954	0	0
ODZ2	57451	broad.mit.edu	37	5	167689721	167689721	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:167689721G>A	uc010jjd.3	+	28	8204	c.8204G>A	c.(8203-8205)gGa>gAa	p.G2735E	ODZ2_uc003lzr.4_Missense_Mutation_p.G2505E|ODZ2_uc003lzt.4_Missense_Mutation_p.G2108E|ODZ2_uc010jje.3_Missense_Mutation_p.G1999E	NM_001122679	NP_001116151			Homo sapiens odz, odd Oz/ten-m homolog 2 (Drosophila) (ODZ2), mRNA.											NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|lung(45)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(2)	122	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)		GGGTACGAGGGATATTACGTG	0.552000														8			5		0	0	0.000602	0	0
EGF	1950	broad.mit.edu	37	4	110925679	110925679	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr4:110925679G>A	uc003hzy.4	+	21	3644	c.3192G>A	c.(3190-3192)tcG>tcA	p.S1064S	EGF_uc011cfu.2_Silent_p.S1022S|EGF_uc011cfv.2_Silent_p.S1023S|EGF_uc010imk.3_Silent_p.S212S	NM_001963	NP_001954	P01133	EGF_HUMAN	Homo sapiens epidermal growth factor (EGF), transcript variant 1, mRNA.	1064					DNA replication|angiogenesis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of MAP kinase activity|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sulindac(DB00605)	AGCTGCTATCGAAAAACCCAA	0.473000														84			65		0	0	0.014410	0	0
CACNG2	10369	broad.mit.edu	37	22	36960495	36960495	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr22:36960495C>T	uc003aps.2	-	3	944	c.875G>A	c.(874-876)aGg>aAg	p.R292K		NM_006078	NP_006069	Q9Y698	CCG2_HUMAN	Homo sapiens calcium channel, voltage-dependent, gamma subunit 2 (CACNG2), mRNA.	292					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						GCTGTTATCCCTGTCGGAGTT	0.592000														29			14		0	0	0.004990	0	0
DYTN	391475	broad.mit.edu	37	2	207527702	207527702	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:207527702C>T	uc002vbr.1	-	10	1675	c.1558G>A	c.(1558-1560)Gat>Aat	p.D520N		NM_001093730	NP_001087199	A2CJ06	DYTN_HUMAN	Homo sapiens dystrotelin (DYTN), mRNA.	520						plasma membrane	zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(24)|ovary(1)|upper_aerodigestive_tract(1)	36				LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153)		TCCAGCTCATCCTTTCTCTCC	0.458000														86			76		0	0	0.014410	0	0
SULT1E1	6783	broad.mit.edu	37	4	70713508	70713508	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr4:70713508G>A	uc003heo.3	-	5	612	c.499C>T	c.(499-501)Cct>Tct	p.P167S		NM_005420	NP_005411	P49888	ST1E1_HUMAN	Homo sapiens sulfotransferase family 1E, estrogen-preferring, member 1 (SULT1E1), mRNA.	167					3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process	cytosol|nuclear membrane	estrone sulfotransferase activity|flavonol 3-sulfotransferase activity|steroid binding|steroid sulfotransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	10						GAACCATAAGGAACTAAAATT	0.338000														35			29		0	0	0.008361	0	0
LGALS9	3965	broad.mit.edu	37	17	25974345	25974345	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr17:25974345C>T	uc002gzp.3	+	9	926	c.808C>T	c.(808-810)Ccc>Tcc	p.P270S	LGALS9_uc002gzq.3_Missense_Mutation_p.P238S|LGALS9_uc002gzr.3_Missense_Mutation_p.P181S|LGALS9_uc010waa.2_Intron	NM_009587	NP_033665	O00182	LEG9_HUMAN	Homo sapiens lectin, galactoside-binding, soluble, 9 (LGALS9), transcript variant 1, mRNA.	270	Galectin 2.			P -> L (in Ref. 1; CAA88922).	positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|extracellular region	galactose binding|signal transducer activity			endometrium(3)|large_intestine(2)|lung(12)|skin(1)	18	Lung NSC(42;0.0103)		BRCA - Breast invasive adenocarcinoma(3;0.0141)	UCEC - Uterine corpus endometrioid carcinoma (53;0.155)		CCACCTGAACCCCCGTTTTGA	0.572000														31			14		0	0	0.003163	0	0
TGM3	7053	broad.mit.edu	37	20	2321101	2321101	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr20:2321101G>A	uc002wfx.4	+	12	2053	c.1956G>A	c.(1954-1956)aaG>aaA	p.K652K		NM_003245	NP_003236	Q08188	TGM3_HUMAN	Homo sapiens transglutaminase 3 (E polypeptide, protein-glutamine-gamma-glutamyltransferase) (TGM3), mRNA.	652					cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	GDP binding|GTP binding|GTPase activity|acyltransferase activity|calcium ion binding|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39					L-Glutamine(DB00130)	TAGGGCCCAAGGAGGGGTCCC	0.617000														59			34		0	0	0.004878	0	0
SLIT2	9353	broad.mit.edu	37	4	20619147	20619147	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr4:20619147G>A	uc003gpr.1	+	35	4426	c.4222G>A	c.(4222-4224)Gaa>Aaa	p.E1408K	SLIT2_uc003gps.1_Missense_Mutation_p.E1400K	NM_004787	NP_004778	O94813	SLIT2_HUMAN	Homo sapiens slit homolog 2 (Drosophila) (SLIT2), mRNA.	1408					Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	GTPase inhibitor activity|Roundabout binding|calcium ion binding|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						CCTCTGTGATGAAGAGGAGGA	0.552000														13			15		0	0	0.004007	0	0
CRB2	286204	broad.mit.edu	37	9	126132692	126132692	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr9:126132692C>T	uc004bnx.1	+	6	1452	c.1360C>T	c.(1360-1362)Cca>Tca	p.P454S	CRB2_uc004bnw.1_Missense_Mutation_p.P454S	NM_173689	NP_775960	Q5IJ48	CRUM2_HUMAN	Homo sapiens crumbs homolog 2 (Drosophila) (CRB2), mRNA.	454	Laminin G-like 1.					extracellular region|integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						GGCATCAGTGCCAGCTGGTGG	0.612000														3			16		0	0	0.006122	0	0
CASR	846	broad.mit.edu	37	3	122002961	122002961	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:122002961G>A	uc003eew.4	+	6	2628	c.2190G>A	c.(2188-2190)ggG>ggA	p.G730G	CASR_uc003eev.4_Silent_p.G720G	NM_001178065	NP_001171536	P41180	CASR_HUMAN	Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA.	720					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity	p.L730L(2)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	AGTGGTGGGGGCTCAACCTGC	0.572000														11			16		0	0	0.004007	0	0
SSPO	23145	broad.mit.edu	37	7	149486319	149486319	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:149486319C>T	uc010lpk.3	+	29	4295	c.4295C>T	c.(4294-4296)gCc>gTc	p.A1432V		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	1432	LDL-receptor class A 2.				cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CTGCCCCTGGCCCTGCTCTGT	0.672000														16			23		0	0	0.006320	0	0
MYH6	4624	broad.mit.edu	37	14	23870036	23870036	+	Missense_Mutation	SNP	G	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr14:23870036G>T	uc001wjv.3	-	12	1363	c.1292C>A	c.(1291-1293)gCa>gAa	p.A431E	MYH6_uc010akp.2_Missense_Mutation_p.A431E	NM_002471	NP_002462	P13533	MYH6_HUMAN	Homo sapiens myosin, heavy chain 6, cardiac muscle, alpha (MYH6), mRNA.	431	Myosin head-like.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		CTCATACACTGCCTTGGCCAG	0.582000														50			39		2.66277e-13	3.60416e-13	0.006999	1	0
GAS7	8522	broad.mit.edu	37	17	9873045	9873045	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr17:9873045G>A	uc002gmg.1	-	3	581	c.420C>T	c.(418-420)caC>caT	p.H140H	GAS7_uc010vvd.1_Silent_p.H92H|GAS7_uc002gmi.2_Silent_p.H76H|GAS7_uc002gmj.1_Silent_p.H80H|GAS7_uc010coh.1_Silent_p.H80H	NM_201433	NP_001124303	O60861	GAS7_HUMAN	Homo sapiens growth arrest-specific 7 (GAS7), transcript variant c, mRNA.	140					cell cycle arrest	cytoplasm	sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(7)|lung(18)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	39						TCTCTGGAGGGTGCGCTGGGG	0.607000			T	MLL	AML*									32			27		0	0	0.009535	0	0
FAM123B	139285	broad.mit.edu	37	X	63412503	63412503	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:63412503G>A	uc022byb.1	-	0	664	c.664C>T	c.(664-666)Caa>Taa	p.Q222*	FAM123B_uc004dvo.3_Nonsense_Mutation_p.Q222*	NM_152424	NP_689637	Q5JTC6	F123B_HUMAN	Homo sapiens family with sequence similarity 123B (FAM123B), mRNA.	222					Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane		p.0?(67)|p.Q222*(1)		NS(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(132)|large_intestine(35)|liver(1)|lung(33)|ovary(5)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	225						CTAGGGGCTTGGAAGGTCTCC	0.577000														31			28		0	0	0.008361	0	0
ARMC4	55130	broad.mit.edu	37	10	28196681	28196681	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr10:28196681G>A	uc009xky.3	-	16	2619	c.2521C>T	c.(2521-2523)Cgt>Tgt	p.R841C	ARMC4_uc010qds.2_Missense_Mutation_p.R366C|ARMC4_uc010qdt.2_Missense_Mutation_p.R533C|ARMC4_uc001itz.3_Missense_Mutation_p.R841C	NM_018076	NP_060546	Q5T2S8	ARMC4_HUMAN	Homo sapiens armadillo repeat containing 4 (ARMC4), mRNA.	841							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						CACAACAAACGAACTCCATCT	0.423000														23			23		0	0	0.007291	0	0
CAB39	51719	broad.mit.edu	37	2	231663564	231663564	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:231663564C>T	uc002vqx.3	+	4	951	c.519C>T	c.(517-519)gtC>gtT	p.V173V	CAB39_uc010fxr.3_Silent_p.V173V|CAB39_uc010fxq.3_Silent_p.V173V	NM_016289	NP_057373	Q9Y376	CAB39_HUMAN	Homo sapiens calcium binding protein 39 (CAB39), transcript variant 1, mRNA.	173					cell cycle arrest|insulin receptor signaling pathway|regulation of fatty acid oxidation	cytosol	kinase binding			central_nervous_system(1)|large_intestine(1)|skin(1)	3		all_lung(227;4.63e-07)|all_hematologic(139;1.83e-06)|Lung NSC(271;2.11e-05)|Acute lymphoblastic leukemia(138;5.51e-05)|Hepatocellular(293;0.0207)|Lung SC(224;0.187)		all cancers(144;1.64e-12)|Epithelial(121;5.29e-11)|LUSC - Lung squamous cell carcinoma(224;0.0154)|Lung(119;0.0177)|COAD - Colon adenocarcinoma(134;0.226)		TCAGATATGTCGAAATGTCAA	0.348000														15			14		0	0	0.002450	0	0
RNF19B	127544	broad.mit.edu	37	1	33402701	33402701	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:33402701G>A	uc010oho.2	-	8	1905	c.1905C>T	c.(1903-1905)ccC>ccT	p.P635P	RNF19B_uc001bwm.4_3'UTR|RNF19B_uc010ohp.2_Silent_p.P634P	NM_153341	NP_699172	Q6ZMZ0	RN19B_HUMAN	Homo sapiens ring finger protein 19B (RNF19B), transcript variant 1, mRNA.	635						integral to membrane	ligase activity|protein binding|zinc ion binding			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)	13		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				GTCTGCAGGGGGGATCCTCTT	0.562000														5			102		0	0	0.014410	0	0
LIMCH1	22998	broad.mit.edu	37	4	41648538	41648538	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr4:41648538G>A	uc003gvz.4	+	16	2865	c.2448G>A	c.(2446-2448)aaG>aaA	p.K816K	LIMCH1_uc003gwe.4_Silent_p.K431K|LIMCH1_uc003gvu.4_Silent_p.K431K|LIMCH1_uc003gvv.4_Silent_p.K431K|LIMCH1_uc003gvw.4_Silent_p.K431K|LIMCH1_uc003gvx.4_Silent_p.K419K|LIMCH1_uc003gvy.4_Silent_p.K260K|LIMCH1_uc003gwa.4_Silent_p.K272K|LIMCH1_uc011byu.2_Silent_p.K265K|LIMCH1_uc003gwc.4_Silent_p.K277K|LIMCH1_uc003gwd.4_Silent_p.K265K|LIMCH1_uc011byv.2_Silent_p.K182K	NM_014988	NP_055803	Q9UPQ0	LIMC1_HUMAN	Homo sapiens LIM and calponin homology domains 1 (LIMCH1), transcript variant 1, mRNA.	431	Glu-rich.				actomyosin structure organization		actin binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						AAGCATATAAGAACGCTCGGT	0.468000														45			51		0	0	0.014410	0	0
CCDC68	80323	broad.mit.edu	37	18	52608288	52608288	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr18:52608288C>T	uc002lfs.3	-	3	316	c.144G>A	c.(142-144)agG>agA	p.R48R	CCDC68_uc002lft.3_Silent_p.R48R	NM_001143829	NP_079490	Q9H2F9	CCD68_HUMAN	Homo sapiens coiled-coil domain containing 68 (CCDC68), transcript variant 2, mRNA.	48										breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|stomach(1)	14				Colorectal(16;0.0256)|READ - Rectum adenocarcinoma(59;0.21)		ACATCTGGGTCCTGATCTTTT	0.343000														24			19		0	0	0.012319	0	0
SLC4A11	83959	broad.mit.edu	37	20	3210416	3210416	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr20:3210416C>T	uc010zqe.2	-	13	1750	c.1625G>A	c.(1624-1626)tGg>tAg	p.W542*	SLC4A11_uc002wig.3_Nonsense_Mutation_p.W515*|SLC4A11_uc002wih.3_Intron|SLC4A11_uc010zqf.2_Nonsense_Mutation_p.W499*	NM_001174090	NP_001167561	Q8NBS3	S4A11_HUMAN	Homo sapiens solute carrier family 4, sodium borate transporter, member 11 (SLC4A11), transcript variant 1, mRNA.	515	Membrane (bicarbonate transporter).				cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system	basolateral plasma membrane|integral to membrane	bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						GTAGTACTTCCAGAAGACTGT	0.602000														35			27		0	0	0.004289	0	0
TSPEAR	54084	broad.mit.edu	37	21	45941922	45941922	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr21:45941922G>A	uc002zfe.1	-	8	1476	c.1410C>T	c.(1408-1410)acC>acT	p.T470T	TSPEAR_uc010gpv.1_Silent_p.T402T	NM_144991	NP_659428	Q8WU66	TSEAR_HUMAN	Homo sapiens thrombospondin-type laminin G domain and EAR repeats (TSPEAR), mRNA.	470					cell adhesion	extracellular region	structural molecule activity			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						AGGTGGCGATGGTCTGGTTGG	0.617000														74			60		0	0	0.014410	0	0
RPSA	3921	broad.mit.edu	37	3	39449165	39449166	+	Silent	DNP	CC	TT	TT			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:39449165_39449166CC>TT	uc003cjq.3	+	1	106_107	c.21_22CC>TT	c.(19-24)gtcctg>gtTTtg	p.7_8VL>VL	RPSA_uc003cjp.3_Silent_p.7_8VL>VL|SNORA6_uc003cjs.1_5'Flank	NM_002295	NP_002286	P08865	RSSA_HUMAN	Homo sapiens ribosomal protein SA (RPSA), transcript variant 1, mRNA.	7					cell adhesion|endocrine pancreas development|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 3'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|rRNA export from nucleus|ribosomal small subunit assembly|translational elongation|translational termination|viral transcription	90S preribosome|cytosolic small ribosomal subunit|nucleus|plasma membrane	protein binding|receptor activity|ribosome binding|structural constituent of ribosome	p.V7V(2)		endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7				KIRC - Kidney renal clear cell carcinoma(284;0.0509)|Kidney(284;0.064)		cccttgatgtcctgcaaatgaa	0.421000														24			15		0	0	0.004672	0	0
POTEG	404785	broad.mit.edu	37	14	19573107	19573107	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr14:19573107C>T	uc001vuz.1	+	7	1257	c.1205C>T	c.(1204-1206)tCt>tTt	p.S402F	POTEG_uc001vva.1_Non-coding_Transcript|POTEG_uc010ahc.1_Non-coding_Transcript	NM_001005356	NP_001005356	Q6S5H5	POTEG_HUMAN	Homo sapiens POTE ankyrin domain family, member G (POTEG), transcript variant 1, mRNA.	402										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						CAGGAAATGTCTCAAGAACCA	0.289000														132			13		0	0	0.012319	0	0
MAPKAPK5	8550	broad.mit.edu	37	12	112308966	112308966	+	Silent	SNP	T	C	C			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:112308966T>C	uc001tta.3	+	6	820	c.561T>C	c.(559-561)ccT>ccC	p.P187P	MAPKAPK5_uc001tsz.3_Silent_p.P187P	NM_139078	NP_620777	Q8IW41	MAPK5_HUMAN	Homo sapiens mitogen-activated protein kinase-activated protein kinase 5 (MAPKAPK5), transcript variant 2, mRNA.	187	Protein kinase.				signal transduction	cytoplasm|nucleus	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity			endometrium(1)|lung(11)|ovary(1)	13						AGTTCACCCCTTATTATGTAG	0.448000														54			43		0	0	0.014410	0	0
NPAS4	266743	broad.mit.edu	37	11	66190155	66190155	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:66190155C>T	uc001ohx.1	+	3	617	c.441C>T	c.(439-441)ttC>ttT	p.F147F	NPAS4_uc010rpc.1_5'UTR	NM_178864	NP_849195	Q8IUM7	NPAS4_HUMAN	Homo sapiens neuronal PAS domain protein 4 (NPAS4), mRNA.	147					transcription, DNA-dependent		DNA binding|signal transducer activity			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						ATCGCCTCTTCCGCTGCCGCT	0.547000														25			22		0	0	0.002780	0	0
POTEH	23784	broad.mit.edu	37	22	16279248	16279248	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr22:16279248C>T	uc010gqp.2	-	3	1027	c.975G>A	c.(973-975)gtG>gtA	p.V325V	POTEH_uc002zlg.1_Non-coding_Transcript|POTEH_uc002zlh.1_Silent_p.V44V|POTEH_uc002zlj.1_Silent_p.V160V	NM_001136213	NP_001129685	Q6S545	POTEH_HUMAN	Homo sapiens POTE ankyrin domain family, member H (POTEH), mRNA.	325										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						TTAAAAATTTCACCACTTGCT	0.328000														478			60		0	0	0.014410	0	0
PCSK9	255738	broad.mit.edu	37	1	55512301	55512301	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:55512301G>A	uc001cyf.2	+	2	867	c.505G>A	c.(505-507)Gat>Aat	p.D169N	PCSK9_uc010ool.2_Non-coding_Transcript|PCSK9_uc010oom.2_Intron	NM_174936	NP_777596	Q8NBP7	PCSK9_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 9 (PCSK9), mRNA.	169	Peptidase S8.				cellular response to insulin stimulus|cellular response to starvation|cholesterol homeostasis|cholesterol metabolic process|kidney development|liver development|low-density lipoprotein particle receptor catabolic process|lysosomal transport|negative regulation of catalytic activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor recycling|neuron differentiation|positive regulation of neuron apoptosis|positive regulation of receptor internalization|protein autoprocessing|regulation of receptor activity	extracellular space|late endosome|lysosome|perinuclear region of cytoplasm	apolipoprotein receptor binding|identical protein binding|low-density lipoprotein particle receptor binding|serine-type endopeptidase activity|very-low-density lipoprotein particle receptor binding			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	32						GTACCGGGCGGATGAATACCA	0.622000														15			185		0	0	0.014410	0	0
CTNND2	1501	broad.mit.edu	37	5	11397206	11397206	+	Silent	SNP	G	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:11397206G>T	uc003jfa.1	-	5	694	c.549C>A	c.(547-549)acC>acA	p.T183T	CTNND2_uc010itt.2_Silent_p.T92T|CTNND2_uc011cmy.1_Intron|CTNND2_uc011cmz.1_5'UTR|CTNND2_uc010itu.1_Intron	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	Homo sapiens catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein) (CTNND2), mRNA.	183					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						GTGAAGGGGTGGTTTCCCCCA	0.597000														37			28		6.32553e-13	8.5579e-13	0.004656	1	0
MAGEC1	9947	broad.mit.edu	37	X	140993630	140993630	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:140993630C>T	uc004fbt.3	+	3	764	c.440C>T	c.(439-441)tCc>tTc	p.S147F	MAGEC1_uc010nsl.2_Intron|MAGEC1_uc022cfi.1_5'UTR	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	147							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TTCCAGAGTTCCCCTGAGAGT	0.498000										HNSCC(15;0.026)				73			106		0	0	0.014410	0	0
TLL1	7092	broad.mit.edu	37	4	166929157	166929157	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr4:166929157G>A	uc003irh.2	+	6	1521	c.874G>A	c.(874-876)Gat>Aat	p.D292N	TLL1_uc021xud.1_Missense_Mutation_p.D292N|TLL1_uc011cjn.2_Missense_Mutation_p.D292N|TLL1_uc011cjo.2_Missense_Mutation_p.D116N	NM_012464	NP_036596	O43897	TLL1_HUMAN	Homo sapiens tolloid-like 1 (TLL1), transcript variant 1, mRNA.	292	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)		AGAAAGATATGATTTCGACAG	0.408000														41			22		0	0	0.003330	0	0
SARDH	1757	broad.mit.edu	37	9	136584063	136584063	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr9:136584063C>T	uc004cep.4	-	6	1151	c.1017G>A	c.(1015-1017)gaG>gaA	p.E339E	SARDH_uc004ceo.3_Silent_p.E339E|SARDH_uc011mdo.2_Silent_p.E171E|SARDH_uc011mdn.2_Silent_p.E339E	NM_001134707	NP_009032	Q9UL12	SARDH_HUMAN	Homo sapiens sarcosine dehydrogenase (SARDH), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	339					glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		ATCTTACCTCCTCCCAAAAGA	0.572000														3			18		0	0	0.006122	0	0
DNAH5	1767	broad.mit.edu	37	5	13829759	13829759	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:13829759G>A	uc003jfd.2	-	37	6346	c.6304C>T	c.(6304-6306)Cgc>Tgc	p.R2102C		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	2102	AAA 1 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.R2102C(2)		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)					GCCACTGAGCGGAAATTAATC	0.448000									Kartagener syndrome					46			39		0	0	0.013114	0	0
TACR3	6870	broad.mit.edu	37	4	104640528	104640528	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr4:104640528C>T	uc003hxe.1	-	0	446	c.305G>A	c.(304-306)gGa>gAa	p.G102E		NM_001059	NP_001050	P29371	NK3R_HUMAN	Homo sapiens tachykinin receptor 3 (TACR3), mRNA.	102						integral to plasma membrane	tachykinin receptor activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		GATGAGATTTCCCAAAACTGC	0.597000														43			27		0	0	0.012213	0	0
SERPINA10	51156	broad.mit.edu	37	14	94752588	94752588	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr14:94752588C>T	uc001yct.3	-	3	1466	c.1000G>A	c.(1000-1002)Gaa>Aaa	p.E334K	SERPINA10_uc001ycu.4_Missense_Mutation_p.E334K	NM_016186	NP_057270	Q9UK55	ZPI_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10 (SERPINA10), transcript variant 1, mRNA.	334					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	33		all_cancers(154;0.105)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		AAGAAAACTTCCATGTTTCTG	0.398000														29			18		0	0	0.012319	0	0
TFPI	7035	broad.mit.edu	37	2	188361661	188361661	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:188361661C>T	uc002upy.3	-	2	561	c.266G>A	c.(265-267)gGa>gAa	p.G89E	TFPI_uc002uqa.2_Missense_Mutation_p.G89E|TFPI_uc002uqb.2_Missense_Mutation_p.G89E	NM_006287	NP_006278	P10646	TFPI1_HUMAN	Homo sapiens tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor) (TFPI), transcript variant 1, mRNA.	89	BPTI/Kunitz inhibitor 1.				blood coagulation, extrinsic pathway	extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.0554)		Coagulation factor VIIa(DB00036)	ATTCTGATTTCCTTCACATCC	0.388000														48			25		0	0	0.005443	0	0
CACNA1D	776	broad.mit.edu	37	3	53844187	53844187	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:53844187C>T	uc003dgv.4	+	46	6217	c.6054C>T	c.(6052-6054)tcC>tcT	p.S2018S	CACNA1D_uc003dgu.4_Silent_p.S2038S|CACNA1D_uc003dgy.4_Silent_p.S1994S|CACNA1D_uc003dgw.4_Silent_p.S1685S|CACNA1D_uc011bes.2_Non-coding_Transcript	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1D subunit (CACNA1D), transcript variant 2, mRNA.	2018					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	GCCTGCCGTCCCTGCACCGCA	0.627000														13			12		0	0	0.013537	0	0
CXCR2	3579	broad.mit.edu	37	2	219000488	219000488	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:219000488C>T	uc002vgz.2	+	3	1174	c.964C>T	c.(964-966)Cgc>Tgc	p.R322C	CXCR2_uc002vha.2_Missense_Mutation_p.R322C|CXCR2_uc002vhb.2_Missense_Mutation_p.R322C|CXCR2_uc021vwp.1_Missense_Mutation_p.R322C	NM_001168298	NP_001548	P25025	CXCR2_HUMAN	Homo sapiens chemokine (C-X-C motif) receptor 2 (CXCR2), transcript variant 2, mRNA.	322					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular defense response|dendritic cell chemotaxis|inflammatory response|neutrophil activation|neutrophil chemotaxis|positive regulation of cell proliferation	cell surface|integral to plasma membrane|mast cell granule	interleukin-8 receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(11)|skin(1)|stomach(1)	22						CCAGAAGTTTCGCCATGGACT	0.547000														58			37		0	0	0.007835	0	0
MFN1	55669	broad.mit.edu	37	3	179096428	179096428	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:179096428C>T	uc003fjt.3	+	12	1579	c.1572C>T	c.(1570-1572)atC>atT	p.I524I	MFN1_uc003fjs.3_Silent_p.I496I|MFN1_uc010hxb.3_Non-coding_Transcript|MFN1_uc010hxc.3_Intron	NM_033540	NP_284941	Q8IWA4	MFN1_HUMAN	Homo sapiens mitofusin 1 (MFN1), nuclear gene encoding mitochondrial protein, mRNA.	496					mitochondrial fusion	integral to membrane|mitochondrial outer membrane	GTP binding|GTPase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1)	31	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			ATACACTGATCCCTTGCAAGA	0.328000														14			17		0	0	0.008871	0	0
KCTD19	146212	broad.mit.edu	37	16	67327805	67327805	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr16:67327805C>T	uc002esu.2	-	11	1911	c.1860G>A	c.(1858-1860)caG>caA	p.Q620Q	KCTD19_uc002est.2_Silent_p.Q392Q|KCTD19_uc010vjj.1_Silent_p.Q363Q	NM_001100915	NP_001094385	Q17RG1	KCD19_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 19 (KCTD19), mRNA.	620						voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		TTTCAGATTTCTGTGTGAGGT	0.522000														74			46		0	0	0.009718	0	0
MYH8	4626	broad.mit.edu	37	17	10307703	10307703	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr17:10307703C>T	uc002gmm.2	-	21	2727	c.2632G>A	c.(2632-2634)Gaa>Aaa	p.E878K	AK097500_uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA.	878					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle	p.E877Q(1)		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						ACCATTTTTTCCTCTAGCTCC	0.433000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling					37			23		0	0	0.014323	0	0
ZNF470	388566	broad.mit.edu	37	19	57088722	57088722	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:57088722G>A	uc002qnl.4	+	5	1601	c.925G>A	c.(925-927)Gag>Aag	p.E309K	ZNF470_uc010etn.3_Intron	NM_001001668	NP_001001668	Q6ECI4	ZN470_HUMAN	Homo sapiens zinc finger protein 470 (ZNF470), mRNA.	309					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)		TCATACTGGAGAGAAACCTTA	0.438000														27			37		0	0	0.006230	0	0
OAS3	4940	broad.mit.edu	37	12	113376405	113376405	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:113376405G>A	uc001tug.3	+	0	157	c.70G>A	c.(70-72)Gag>Aag	p.E24K	OAS3_uc001tue.3_Missense_Mutation_p.E24K|OAS3_uc001tuf.3_Missense_Mutation_p.E24K	NM_006187	NP_006178	Q9Y6K5	OAS3_HUMAN	Homo sapiens 2'-5'-oligoadenylate synthetase 3, 100kDa (OAS3), mRNA.	24	OAS domain 1.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	microsome	ATP binding|RNA binding|nucleotidyltransferase activity			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						GCCGCGGAAGGAGTTCGTAGA	0.726000														11			5		0	0	0.004482	0	0
MYH15	22989	broad.mit.edu	37	3	108182015	108182015	+	Missense_Mutation	SNP	T	G	G			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:108182015T>G	uc003dxa.1	-	16	1924	c.1867A>C	c.(1867-1869)Aag>Cag	p.K623Q		NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN	Homo sapiens myosin, heavy chain 15 (MYH15), mRNA.	623	Myosin head-like.					myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						TTGGAAGACTTCTGAAATACA	0.408000														92			64		0	0	0.014410	0	0
ABCD3	5825	broad.mit.edu	37	1	94982685	94982685	+	Nonstop_Mutation	SNP	G	C	C			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:94982685G>C	uc010oto.2	+	23	2154	c.2052G>C	c.(2050-2052)taG>taC	p.*684Y	ABCD3_uc001dqn.4_Nonstop_Mutation_p.*660Y|ABCD3_uc010otp.2_Nonstop_Mutation_p.*587Y|ABCD3_uc009wdr.3_Nonstop_Mutation_p.*550Y|ABCD3_uc001dqo.4_Nonstop_Mutation_p.*348Y	NM_002858	NP_002849	P28288	ABCD3_HUMAN	Homo sapiens ATP-binding cassette, sub-family D (ALD), member 3 (ABCD3), transcript variant 1, mRNA.	0					peroxisomal long-chain fatty acid import|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(2)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26		all_lung(203;0.000434)|Lung NSC(277;0.0019)		all cancers(265;0.0261)|Epithelial(280;0.165)		TTGGCTCTTAGAGAAATCTGG	0.343000														5			82		0	0	0.014410	0	0
ANK3	288	broad.mit.edu	37	10	61973199	61973199	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr10:61973199G>A	uc001jky.3	-	8	1305	c.967C>T	c.(967-969)Cga>Tga	p.R323*	ANK3_uc010qih.2_Nonsense_Mutation_p.R306*|ANK3_uc001jkz.4_Nonsense_Mutation_p.R317*|ANK3_uc001jlb.1_5'UTR	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	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														24			29		0	0	0.003755	0	0
WT1-AS	51352	broad.mit.edu	37	11	32460426	32460426	+	RNA	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:32460426G>A	uc021qfr.1	+	0		c.952G>A			WT1-AS_uc010rec.2_Non-coding_Transcript|WT1-AS_uc010red.2_Non-coding_Transcript					Homo sapiens Wilms tumor upstream neighbor 1, mRNA (cDNA clone IMAGE:3633024).											endometrium(1)|large_intestine(2)|lung(2)|prostate(1)	6						AGAGCTAATGGGATGCAGAGG	0.537000														16			7		0	0	0.003080	0	0
OR13H1	347468	broad.mit.edu	37	X	130678528	130678528	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:130678528C>T	uc011muw.2	+	0	481	c.481C>T	c.(481-483)Cta>Tta	p.L161L	IGSF1_uc004ewf.2_Intron	NM_001004486	NP_001004486	Q8NG92	O13H1_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily H, member 1 (OR13H1), mRNA.	161					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15	Acute lymphoblastic leukemia(192;0.000636)					CATGCTCATCCTATCCCTGAG	0.493000														101			220		0	0	0.014410	0	0
SH2D1B	117157	broad.mit.edu	37	1	162372562	162372562	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:162372562G>A	uc001gbz.1	-	1	287	c.165C>T	c.(163-165)atC>atT	p.I55I	SH2D1B_uc001gca.1_Silent_p.I55I	NM_053282	NP_444512	O14796	SH21B_HUMAN	Homo sapiens SH2 domain containing 1B (SH2D1B), mRNA.	55	SH2.									kidney(1)|large_intestine(1)|lung(4)|pancreas(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			TCTCTCTGAAGATTCGGTATG	0.378000														108			23		0	0	0.006320	0	0
DENND2C	163259	broad.mit.edu	37	1	115079237	115079237	+	RNA	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:115079237G>A	uc001eez.3	-	28		c.4406C>T				NM_198459		Q68D51	DEN2C_HUMAN	Homo sapiens DENN/MADD domain containing 2C (DENND2C), transcript variant 2, mRNA.											NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		CAGCAAGAAGGGTGTGAACCT	0.542000														0			54		0	0	0.014410	0	0
SYNE1	23345	broad.mit.edu	37	6	152737899	152737899	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr6:152737899C>T	uc021zhb.1	-	38	5896	c.5673G>A	c.(5671-5673)gtG>gtA	p.V1891V	SYNE1_uc003qot.4_Silent_p.V1898V|SYNE1_uc003qou.4_Silent_p.V1891V|SYNE1_uc010kjb.1_Silent_p.V1874V	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	1891					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TGGTTGCTTCCACTGTTTGCC	0.493000										HNSCC(10;0.0054)				3			25		0	0	0.003954	0	0
GPRIN1	114787	broad.mit.edu	37	5	176024822	176024822	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:176024822G>A	uc003meo.1	-	1	2189	c.2014C>T	c.(2014-2016)Cct>Tct	p.P672S	GPRIN1_uc021yif.1_Missense_Mutation_p.P672S	NM_052899	NP_443131	Q7Z2K8	GRIN1_HUMAN	Homo sapiens G protein regulated inducer of neurite outgrowth 1 (GPRIN1), mRNA.	672						growth cone|plasma membrane				NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CAGGATCCAGGATCCACCTTC	0.587000														18			14		0	0	0.001855	0	0
SLCO4C1	353189	broad.mit.edu	37	5	101627249	101627249	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:101627249C>T	uc003knm.3	-	1	704	c.417G>A	c.(415-417)atG>atA	p.M139I		NM_180991	NP_851322	Q6ZQN7	SO4C1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 4C1 (SLCO4C1), mRNA.	139					cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		GGGAACTCTTCATTTCATAAC	0.338000														22			13		0	0	0.002450	0	0
DCLK1	9201	broad.mit.edu	37	13	36379876	36379876	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr13:36379876C>T	uc001uvf.3	-	14	2187	c.1904G>A	c.(1903-1905)cGa>cAa	p.R635Q	MAB21L1_uc001uvc.3_Intron|DCLK1_uc001uve.4_Missense_Mutation_p.R328Q|DCLK1_uc010teh.2_Missense_Mutation_p.R328Q|DCLK1_uc010abk.3_Missense_Mutation_p.R155Q	NM_004734	NP_004725	O15075	DCLK1_HUMAN	Homo sapiens doublecortin-like kinase 1 (DCLK1), transcript variant 1, mRNA.	635	Protein kinase.				cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		AGCAGAAAATCGCTGATCTAC	0.413000														63			52		0	0	0.014410	0	0
CCDC135	84229	broad.mit.edu	37	16	57755588	57755588	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr16:57755588G>A	uc002emi.3	+	8	1305	c.1216G>A	c.(1216-1218)Gat>Aat	p.D406N	CCDC135_uc002emj.3_Missense_Mutation_p.D406N|CCDC135_uc002emk.3_Missense_Mutation_p.D341N	NM_032269	NP_115645	Q8IY82	CC135_HUMAN	Homo sapiens coiled-coil domain containing 135 (CCDC135), mRNA.	406						cytoplasm				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						GGGCAAGGAGGATGAGGATAA	0.532000														32			22		0	0	0.008361	0	0
GCLC	2729	broad.mit.edu	37	6	53373488	53373488	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr6:53373488G>A	uc003pbw.2	-	7	1334	c.850C>T	c.(850-852)Ccc>Tcc	p.P284S	GCLC_uc003pbv.1_Missense_Mutation_p.P8S|GCLC_uc021zau.1_Missense_Mutation_p.P246S	NM_001498	NP_001489	P48506	GSH1_HUMAN	Homo sapiens glutamate-cysteine ligase, catalytic subunit (GCLC), transcript variant 1, mRNA.	284					anti-apoptosis|cell redox homeostasis|cysteine metabolic process|glutamate metabolic process|glutathione biosynthetic process|negative regulation of transcription, DNA-dependent|regulation of blood vessel size|response to heat|response to hormone stimulus|response to oxidative stress|xenobiotic metabolic process	cytosol	ADP binding|ATP binding|coenzyme binding|glutamate binding|glutamate-cysteine ligase activity|magnesium ion binding	p.P284P(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22	Lung NSC(77;0.0137)				L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)	CGGTAAAAGGGAGATGCAGCA	0.443000														31			39		0	0	0.008740	0	0
PCDHB7	56129	broad.mit.edu	37	5	140553608	140553608	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:140553608G>A	uc003lit.3	+	0	1366	c.1192G>A	c.(1192-1194)Gaa>Aaa	p.E398K		NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	Homo sapiens protocadherin beta 7 (PCDHB7), mRNA.	398	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.E398K(2)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCCATCTGTCGAAAACTTCTA	0.493000														32			28		0	0	0.005443	0	0
ADAMTS14	140766	broad.mit.edu	37	10	72498703	72498703	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr10:72498703G>A	uc001jrg.3	+	10	1714	c.1714G>A	c.(1714-1716)Ggg>Agg	p.G572R	ADAMTS14_uc001jrh.3_Missense_Mutation_p.G569R|ADAMTS14_uc001jri.1_Missense_Mutation_p.G92R	NM_139155	NP_631894	Q8WXS8	ATS14_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 14 (ADAMTS14), transcript variant 1, mRNA.	569	TSP type-1 1.				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						GCGGTCATGTGGGGGCGGGGT	0.647000														17			16		0	0	0.004990	0	0
MAP2K5	5607	broad.mit.edu	37	15	68040913	68040913	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr15:68040913C>T	uc002aqu.3	+	18	1761	c.1108C>T	c.(1108-1110)Cag>Tag	p.Q370*	MAP2K5_uc002aqv.3_Nonsense_Mutation_p.Q360*|MAP2K5_uc010ujw.2_Nonsense_Mutation_p.Q334*|MAP2K5_uc002aqx.3_Nonsense_Mutation_p.Q180*	NM_145160	NP_660143	Q13163	MP2K5_HUMAN	Homo sapiens mitogen-activated protein kinase kinase 5 (MAP2K5), transcript variant 1, mRNA.	370	Protein kinase.				nerve growth factor receptor signaling pathway		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|skin(1)	16						GCAGCCTCTCCAGCTTCTGCA	0.373000														35			26		0	0	0.007291	0	0
BUD31	8896	broad.mit.edu	37	7	99015269	99015269	+	Silent	SNP	T	C	C			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:99015269T>C	uc011kiu.1	+	4	636	c.435T>C	c.(433-435)ccT>ccC	p.P145P	BUD31_uc003uqf.3_Intron|BUD31_uc011kiv.1_Silent_p.P145P|BUD31_uc003uqg.4_Intron|ATP5J2-PTCD1_uc003uqh.3_3'UTR|ATP5J2-PTCD1_uc011kiw.2_3'UTR	NM_003910	NP_003901	P41223	BUD31_HUMAN	Homo sapiens BUD31 homolog (S. cerevisiae) (BUD31), mRNA.	0					regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity			autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)	4	all_cancers(62;1.76e-08)|all_epithelial(64;1.63e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			AAATTCTGCCTTAGTCGACTG	0.512000														19			9		0	0	0.006214	0	0
ZNF236	7776	broad.mit.edu	37	18	74617298	74617298	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr18:74617298C>T	uc002lmi.3	+	12	2416	c.2218C>T	c.(2218-2220)Ccc>Tcc	p.P740S	ZNF236_uc002lmj.3_Non-coding_Transcript	NM_007345	NP_031371	Q9UL36	ZN236_HUMAN	Homo sapiens zinc finger protein 236 (ZNF236), mRNA.	740					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		CGACCTTCGTCCCTATATGTG	0.433000														14			20		0	0	0.012319	0	0
TP63	8626	broad.mit.edu	37	3	189612186	189612186	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:189612186C>T	uc003fry.2	+	13	2027	c.1938C>T	c.(1936-1938)ctC>ctT	p.L646L	TP63_uc003frz.2_3'UTR|TP63_uc010hzc.1_3'UTR|TP63_uc003fsc.2_Silent_p.L552L|TP63_uc003fsd.2_3'UTR|TP63_uc021xir.1_3'UTR|TP63_uc010hzd.1_Silent_p.L467L	NM_003722	NP_003713	Q9H3D4	P63_HUMAN	Homo sapiens tumor protein p63 (TP63), transcript variant 1, mRNA.	646	Transactivation inhibition.				DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|Notch signaling pathway|anti-apoptosis|cellular response to UV|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to X-ray|response to gamma radiation	Golgi apparatus|chromatin|cytosol|dendrite|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		GATTCACCCTCCGCCAGACCA	0.562000										HNSCC(45;0.13)				51			41		0	0	0.006999	0	0
BEND2	139105	broad.mit.edu	37	X	18209205	18209205	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:18209205C>T	uc004cyj.4	-	7	1358	c.1204G>A	c.(1204-1206)Ggg>Agg	p.G402R	BEND2_uc010nfb.2_Missense_Mutation_p.G311R	NM_153346	NP_699177	Q8NDZ0	BEND2_HUMAN	Homo sapiens BEN domain containing 2 (BEND2), transcript variant 1, mRNA.	402										NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						CTCATTGTCCCATAACTCATT	0.368000														44			43		0	0	0.010771	0	0
BOD1L1	259282	broad.mit.edu	37	4	13601364	13601364	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr4:13601364G>A	uc003gmz.1	-	9	7277	c.7160C>T	c.(7159-7161)cCt>cTt	p.P2387L	BOD1L1_uc010idr.1_Missense_Mutation_p.P1724L	NM_148894	NP_683692	Q8NFC6	BOD1L_HUMAN	Homo sapiens biorientation of chromosomes in cell division 1-like (BOD1L), mRNA.	2387							DNA binding										GACTGGCCCAGGACACCGACA	0.602000														50			45		0	0	0.009718	0	0
MAGEC1	9947	broad.mit.edu	37	X	140993622	140993622	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:140993622C>T	uc004fbt.3	+	3	756	c.432C>T	c.(430-432)ttC>ttT	p.F144F	MAGEC1_uc010nsl.2_Intron|MAGEC1_uc022cfi.1_5'UTR	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	144							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TGAGTATTTTCCAGAGTTCCC	0.502000										HNSCC(15;0.026)				67			91		0	0	0.014410	0	0
GRM8	2918	broad.mit.edu	37	7	126086241	126086241	+	Missense_Mutation	SNP	T	G	G			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:126086241T>G	uc003vlr.2	-	8	2927	c.2616A>C	c.(2614-2616)aaA>aaC	p.K872N	GRM8_uc003vls.2_Non-coding_Transcript|GRM8_uc011kof.1_Non-coding_Transcript|GRM8_uc003vlt.2_Missense_Mutation_p.K872N|GRM8_uc010lkz.1_Non-coding_Transcript	NM_000845	NP_000836	O00222	GRM8_HUMAN	Homo sapiens glutamate receptor, metabotropic 8 (GRM8), transcript variant 1, mRNA.	872					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	TGTCATTTCCTTTTTGGATCA	0.428000										HNSCC(24;0.065)				119			64		0	0	0.014410	0	0
STAB1	23166	broad.mit.edu	37	3	52551991	52551991	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:52551991G>A	uc003dej.3	+	44	4807	c.4733G>A	c.(4732-4734)gGc>gAc	p.G1578D	STAB1_uc003dek.1_5'Flank	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	Homo sapiens stabilin 1 (STAB1), mRNA.	1578	EGF-like 13.				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	p.D1577D(1)		breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		GTGGGGGACGGCCTCACCTGC	0.612000														30			20		0	0	0.003330	0	0
TAS2R60	338398	broad.mit.edu	37	7	143141325	143141325	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:143141325C>T	uc011ktg.2	+	0	780	c.780C>T	c.(778-780)ttC>ttT	p.F260F	LOC285965_uc003wda.3_Intron	NM_177437	NP_803186	P59551	T2R60_HUMAN	Homo sapiens taste receptor, type 2, member 60 (TAS2R60), mRNA.	260					sensory perception of bitter taste	integral to membrane	G-protein coupled receptor activity			breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2)	31	Melanoma(164;0.172)					TCTCATATTTCCTGTCACTGG	0.493000														93			125		0	0	0.014410	0	0
KCNK18	338567	broad.mit.edu	37	10	118969431	118969431	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr10:118969431G>A	uc010qsr.2	+	2	776	c.776G>A	c.(775-777)gGa>gAa	p.G259E		NM_181840	NP_862823	Q7Z418	KCNKI_HUMAN	Homo sapiens potassium channel, subfamily K, member 18 (KCNK18), mRNA.	259						integral to membrane|plasma membrane		p.L258F(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	41		Colorectal(252;0.19)		all cancers(201;0.0211)		CTGGTGTTGGGAAGACTCTCA	0.517000														33			37		0	0	0.005524	0	0
CHD5	26038	broad.mit.edu	37	1	6188267	6188268	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:6188267_6188268CC>TT	uc001amb.2	-	24	3852_3853	c.3741_3742GG>AA	c.(3739-3744)aaggac>aaAAac	p.D1248N	CHD5_uc001alz.2_Missense_Mutation_p.D105N|CHD5_uc001ama.2_Non-coding_Transcript|CHD5_uc001amc.1_Non-coding_Transcript	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 5 (CHD5), mRNA.	1248					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		TCCTCCACGTCCTTGTTGTCAC	0.584000														3			38		0	0	0.004672	0	0
MAGEC1	9947	broad.mit.edu	37	X	140996397	140996397	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:140996397C>T	uc004fbt.3	+	3	3531	c.3207C>T	c.(3205-3207)ttC>ttT	p.F1069F	MAGEC1_uc010nsl.2_Silent_p.F136F|MAGEC1_uc022cfi.1_Silent_p.F728F	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	1069	MAGE.						protein binding	p.F1069F(2)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					GTTACGAATTCCTGTGGGGTC	0.488000										HNSCC(15;0.026)				190			84		0	0	0.014410	0	0
PPFIA2	8499	broad.mit.edu	37	12	81671177	81671177	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:81671177C>T	uc001szo.2	-	27	3390	c.3229G>A	c.(3229-3231)Gga>Aga	p.G1077R	PPFIA2_uc010sug.2_Non-coding_Transcript|PPFIA2_uc021rbg.1_Missense_Mutation_p.G976R|PPFIA2_uc021rbh.1_Missense_Mutation_p.G972R|PPFIA2_uc021rbi.1_Missense_Mutation_p.G1071R|PPFIA2_uc021rbj.1_Missense_Mutation_p.G1056R|PPFIA2_uc021rbk.1_Missense_Mutation_p.G1062R|PPFIA2_uc021rbl.1_Missense_Mutation_p.G1077R|PPFIA2_uc010sue.2_Intron|PPFIA2_uc021rbe.1_Missense_Mutation_p.G613R|PPFIA2_uc021rbf.1_Missense_Mutation_p.G263R	NM_003625	NP_003616	B7Z663	B7Z663_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2 (PPFIA2), transcript variant 1, mRNA.	976										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						CACATAATTCCATATTGTAAA	0.308000														14			5		0	0	0.000602	0	0
OR2M4	26245	broad.mit.edu	37	1	248402794	248402794	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:248402794C>T	uc010pzh.2	+	0	564	c.564C>T	c.(562-564)tcC>tcT	p.S188S		NM_017504	NP_059974	Q96R27	OR2M4_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 4 (OR2M4), mRNA.	188					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50	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)			TACCTCTATCCTGCACAGAAA	0.403000														5			194		0	0	0.014410	0	0
ARMCX3	51566	broad.mit.edu	37	X	100880198	100880198	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:100880198C>T	uc022cap.1	+	0	229	c.229C>T	c.(229-231)Cca>Tca	p.P77S	ARMCX3_uc004ehz.1_Missense_Mutation_p.P77S|ARMCX3_uc004eia.1_Missense_Mutation_p.P77S|ARMCX3_uc004eib.1_Missense_Mutation_p.P77S|ARMCX3_uc004eic.1_Missense_Mutation_p.P77S	NM_177948	NP_808817	Q9UH62	ARMX3_HUMAN	Homo sapiens armadillo repeat containing, X-linked 3 (ARMCX3), transcript variant 3, mRNA.	77						integral to membrane	binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11						AGTATGGTACCCACCTTGGGC	0.572000														64			60		0	0	0.014410	0	0
GALNT14	79623	broad.mit.edu	37	2	31147002	31147002	+	Missense_Mutation	SNP	C	T	T	rs145602304		TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:31147002C>T	uc002rns.3	-	13	2018	c.1378G>A	c.(1378-1380)Gaa>Aaa	p.E460K	GALNT14_uc002rnq.3_Missense_Mutation_p.E435K|GALNT14_uc010ymr.2_Missense_Mutation_p.E420K|GALNT14_uc002rnr.3_Missense_Mutation_p.E455K|GALNT14_uc010ezo.2_Missense_Mutation_p.E422K	NM_001253826	NP_001240755	Q96FL9	GLT14_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14) (GALNT14), transcript variant 2, mRNA.	455	Ricin B-type lectin.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					TTTGCATCTTCGCCTTTGACC	0.522000														83			78		0	0	0.014410	0	0
NME9	347736	broad.mit.edu	37	3	138023805	138023805	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:138023805C>T	uc003esg.3	-	8	729	c.701G>A	c.(700-702)aGg>aAg	p.R234K	NME9_uc003esd.1_Intron|NME9_uc010huf.1_Missense_Mutation_p.R149K|NME9_uc003ese.1_Missense_Mutation_p.R173K	NM_178130	NP_835231	Q86XW9	TXND6_HUMAN	Homo sapiens NME gene family member 9 (NME9), mRNA.	234	NDK.				CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process|cell redox homeostasis	cytoplasm|cytoskeleton	ATP binding|nucleoside diphosphate kinase activity										GCCCTCAGTCCTGGTGAGGAT	0.597000														263			200		0	0	0.014410	0	0
IQCE	23288	broad.mit.edu	37	7	2611196	2611196	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:2611196C>T	uc003sml.1	+	3	351	c.167C>T	c.(166-168)tCc>tTc	p.S56F	IQCE_uc010ksm.1_Missense_Mutation_p.S56F|IQCE_uc011jvy.1_Missense_Mutation_p.S40F|IQCE_uc011jvz.1_5'UTR|IQCE_uc003smo.4_Missense_Mutation_p.S56F|IQCE_uc003smk.4_Missense_Mutation_p.S40F|IQCE_uc003smn.4_5'UTR	NM_152558	NP_689771	Q6IPM2	IQCE_HUMAN	Homo sapiens IQ motif containing E (IQCE), transcript variant 1, mRNA.	56										breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;1.23e-13)		AAAGTGGCCTCCTGGAGGTCC	0.592000														83			36		0	0	0.003755	0	0
TTN	7273	broad.mit.edu	37	2	179400746	179400746	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:179400746C>T	uc021vsy.1	-	305	93249	c.93024G>A	c.(93022-93024)ggG>ggA	p.G31008G	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.G24703G|TTN_uc021vta.1_Silent_p.G24636G|TTN_uc021vtb.1_Silent_p.G24511G	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	31935	Fibronectin type-III 126.						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)			ACACAGATCCCCCTTGGTTGG	0.438000														42			40		0	0	0.014410	0	0
WDSUB1	151525	broad.mit.edu	37	2	160136445	160136445	+	Missense_Mutation	SNP	A	G	G			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:160136445A>G	uc002uaj.4	-	2	559	c.410T>C	c.(409-411)gTt>gCt	p.V137A	WDSUB1_uc002uak.4_Missense_Mutation_p.V137A|WDSUB1_uc002ual.4_Missense_Mutation_p.V137A|WDSUB1_uc010foo.3_Missense_Mutation_p.V137A	NM_152528	NP_689741	Q8N9V3	WSDU1_HUMAN	Homo sapiens WD repeat, sterile alpha motif and U-box domain containing 1 (WDSUB1), transcript variant 3, mRNA.	137						ubiquitin ligase complex	ubiquitin-protein ligase activity	p.V137A(2)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|prostate(1)|stomach(3)	16						GCCATCTTTAACACTACCACA	0.398000														7			8		0	0	0.004482	0	0
KCTD8	386617	broad.mit.edu	37	4	44450352	44450352	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr4:44450352G>A	uc003gwu.3	-	0	473	c.189C>T	c.(187-189)ctC>ctT	p.L63L		NM_198353	NP_938167	Q6ZWB6	KCTD8_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 8 (KCTD8), mRNA.	63	BTB.					cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						CCGGGACGCTGAGCAGCGTCG	0.711000										HNSCC(17;0.042)				9			5		0	0	0.001984	0	0
RELN	5649	broad.mit.edu	37	7	103270545	103270545	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:103270545G>A	uc022ajr.1	-	19	2704	c.2544C>T	c.(2542-2544)tcC>tcT	p.S848S	RELN_uc022ajq.1_Silent_p.S848S|RELN_uc010liz.3_Silent_p.S848S	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	848					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CTTCTCTCTGGGAAGAATGAT	0.393000														78			41		0	0	0.008740	0	0
ALPK3	57538	broad.mit.edu	37	15	85383851	85383851	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr15:85383851G>A	uc002ble.3	+	4	2114	c.1947G>A	c.(1945-1947)aaG>aaA	p.K649K		NM_020778	NP_065829	Q96L96	ALPK3_HUMAN	Homo sapiens alpha-kinase 3 (ALPK3), mRNA.	649					heart development	nucleus	ATP binding|protein serine/threonine kinase activity			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			AGAGTCCCAAGGGGAAGGCAC	0.647000														15			16		0	0	0.003163	0	0
CDH23	64072	broad.mit.edu	37	10	73437276	73437276	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr10:73437276C>T	uc001jrx.4	+	14	1962	c.1572C>T	c.(1570-1572)atC>atT	p.I524I	CDH23_uc001jry.3_Silent_p.I524I|CDH23_uc001jrz.3_Silent_p.I524I	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	Homo sapiens cadherin-related 23 (CDH23), transcript variant 1, mRNA.	526	Cadherin 5.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						ATGAGCTCATCCAGCGCTTCA	0.602000														11			4		0	0	0.000602	0	0
SAMD7	344658	broad.mit.edu	37	3	169639115	169639116	+	Missense_Mutation	DNP	GG	AA	AA	rs138236130	by1000genomes	TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:169639115_169639116GG>AA	uc003fgd.3	+	3	467_468	c.200_201GG>AA	c.(199-201)cgg>cAA	p.R67Q	SAMD7_uc003fge.3_Missense_Mutation_p.R67Q|SAMD7_uc011bpo.2_5'UTR	NM_182610	NP_872416	Q7Z3H4	SAMD7_HUMAN	Homo sapiens sterile alpha motif domain containing 7 (SAMD7), mRNA.	67								p.R67W(1)		NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			TTGTCCAGTCGGATCTACCCAG	0.426000														25			24		0	0	0.004672	0	0
AQR	9716	broad.mit.edu	37	15	35185944	35185944	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr15:35185944C>T	uc001ziv.3	-	22	2672	c.2491G>A	c.(2491-2493)Gat>Aat	p.D831N		NM_014691	NP_055506	O60306	AQR_HUMAN	Homo sapiens aquarius homolog (mouse) (AQR), mRNA.	831						catalytic step 2 spliceosome	RNA binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		ACTGCCACATCTGTTTTGCCT	0.408000														117			49		0	0	0.014410	0	0
SLC13A1	6561	broad.mit.edu	37	7	122839970	122839970	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:122839970G>A	uc003vkm.3	-	0	56	c.31C>T	c.(31-33)Cgc>Tgc	p.R11C	SLC13A1_uc010lks.3_5'UTR	NM_022444	NP_071889	Q9BZW2	S13A1_HUMAN	Homo sapiens solute carrier family 13 (sodium/sulfate symporters), member 1 (SLC13A1), mRNA.	11						integral to membrane|plasma membrane	sodium:sulfate symporter activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45					Succinic acid(DB00139)	AGAAATCGGCGATAAACCAGA	0.428000														44			21		0	0	0.012319	0	0
ZNF454	285676	broad.mit.edu	37	5	178392474	178392474	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:178392474G>A	uc003mjo.2	+	4	1370	c.1069G>A	c.(1069-1071)Gaa>Aaa	p.E357K	ZNF454_uc010jkz.2_Missense_Mutation_p.E357K|ZNF454_uc021yjc.1_Missense_Mutation_p.E357K	NM_182594	NP_872400	Q8N9F8	ZN454_HUMAN	Homo sapiens zinc finger protein 454 (ZNF454), transcript variant 2, mRNA.	357					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(11)|lung(18)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	46	all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.225)|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;0.234)		GAAACCCTTTGAATGTAATGA	0.393000														15			18		0	0	0.004990	0	0
GLYATL2	219970	broad.mit.edu	37	11	58602185	58602185	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:58602185C>T	uc001nnd.4	-	5	733	c.602G>A	c.(601-603)gGa>gAa	p.G201E	GLYATL2_uc009ymq.3_Missense_Mutation_p.G201E	NM_145016	NP_659453	Q8WU03	GLYL2_HUMAN	Homo sapiens glycine-N-acyltransferase-like 2 (GLYATL2), mRNA.	201						mitochondrion	glycine N-acyltransferase activity			breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	23		Breast(21;0.0044)|all_epithelial(135;0.0216)			Glycine(DB00145)	CACACCAAATCCTAGAAAATC	0.463000														23			16		0	0	0.004007	0	0
RYR3	6263	broad.mit.edu	37	15	33925186	33925186	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr15:33925186G>A	uc001zhi.3	+	23	2974	c.2904G>A	c.(2902-2904)ttG>ttA	p.L968L	RYR3_uc010bar.3_Silent_p.L968L	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	968	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CAGCCCCTTTGGATTTGTCTG	0.368000														59			53		0	0	0.014410	0	0
BTBD17	388419	broad.mit.edu	37	17	72356380	72356380	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr17:72356380C>T	uc002jkn.2	-	1	90	c.90G>A	c.(88-90)caG>caA	p.Q30Q		NM_001080466	NP_001073935	A6NE02	BTBDH_HUMAN	Homo sapiens BTB (POZ) domain containing 17 (BTBD17), mRNA.	30						extracellular region				endometrium(1)|kidney(1)|lung(4)	6						CATCGGCTCTCTGTGCTGCAG	0.647000														6			6		0	0	0.003080	0	0
LAMA2	3908	broad.mit.edu	37	6	129762062	129762062	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr6:129762062G>A	uc021zfb.1	+	42	6292	c.6187G>A	c.(6187-6189)Gat>Aat	p.D2063N	LAMA2_uc003qbn.3_Missense_Mutation_p.D2063N|LAMA2_uc003qbo.3_Missense_Mutation_p.D2063N	NM_000426	NP_000417	P24043	LAMA2_HUMAN	Homo sapiens laminin, alpha 2 (LAMA2), transcript variant 1, mRNA.	2063	Domain II and I.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	p.L2062L(1)		NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CCAGAACCTCGATGGCCTGAA	0.443000														4			21		0	0	0.010504	0	0
PNPLA5	150379	broad.mit.edu	37	22	44277535	44277535	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr22:44277535C>T	uc003beg.3	-	7	1235	c.1102G>A	c.(1102-1104)Gat>Aat	p.D368N	PNPLA5_uc003beh.3_Missense_Mutation_p.D254N|PNPLA5_uc021wqw.1_Missense_Mutation_p.D368N|PNPLA5_uc021wqx.1_Missense_Mutation_p.D254N|PNPLA5_uc011aqc.2_Missense_Mutation_p.D228N	NM_138814	NP_620169	Q7Z6Z6	PLPL5_HUMAN	Homo sapiens patatin-like phospholipase domain containing 5 (PNPLA5), transcript variant 1, mRNA.	368					lipid catabolic process		hydrolase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	16		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)				GCCGGCACATCGGGCAGCCAC	0.657000														10			8		0	0	0.006214	0	0
CNOT6	57472	broad.mit.edu	37	5	179996264	179996264	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:179996264C>T	uc003mlx.3	+	9	1531	c.1182C>T	c.(1180-1182)ctC>ctT	p.L394L	CNOT6_uc010jld.3_Silent_p.L394L|CNOT6_uc010jle.3_Silent_p.L389L	NM_015455	NP_056270	Q9ULM6	CNOT6_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 6 (CNOT6), mRNA.	394					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	RNA binding|exonuclease activity|metal ion binding|protein binding			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|skin(1)	23	all_cancers(89;3.3e-05)|all_epithelial(37;7.38e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00543)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.023)		CTCGCAACCTCAAATCCAGTG	0.378000														63			55		0	0	0.014410	0	0
IFT140	9742	broad.mit.edu	37	16	1573573	1573573	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr16:1573573G>A	uc002cmb.3	-	25	3761	c.3399C>T	c.(3397-3399)ttC>ttT	p.F1133F	IFT140_uc002clz.3_Silent_p.F746F	NM_014714	NP_055529	Q96RY7	IF140_HUMAN	Homo sapiens intraflagellar transport 140 homolog (Chlamydomonas) (IFT140), mRNA.	1133										breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				TGTGCTCGATGAAGAAGTCGG	0.652000														13			14		0	0	0.003163	0	0
RFX1	5989	broad.mit.edu	37	19	14074027	14074027	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:14074027G>A	uc002mxv.3	-	18	2903	c.2631C>T	c.(2629-2631)ctC>ctT	p.L877L		NM_002918	NP_002909	P22670	RFX1_HUMAN	Homo sapiens regulatory factor X, 1 (influences HLA class II expression) (RFX1), mRNA.	877	Necessary for dimerization.				immune response	nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)			GCAGCCGGATGAGGTGGAAGG	0.667000														21			11		0	0	0.010729	0	0
PPP1R18	170954	broad.mit.edu	37	6	30652369	30652369	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr6:30652369G>A	uc003nra.3	-	1	1658	c.1427C>T	c.(1426-1428)cCc>cTc	p.P476L	PPP1R18_uc003nrb.4_Missense_Mutation_p.P476L	NM_001134870	NP_597728	Q6NYC8	PHTNS_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 18 (PPP1R18), transcript variant 2, mRNA.	476						cytoplasm|cytoskeleton	actin binding										AGACCGCCGGGGGTTGACGGT	0.692000														6			11		0	0	0.013537	0	0
MYO16	23026	broad.mit.edu	37	13	109672187	109672187	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr13:109672187G>A	uc010agk.2	+	22	3346	c.2724G>A	c.(2722-2724)atG>atA	p.M908I	MYO16_uc001vqt.1_Missense_Mutation_p.M886I|MYO16_uc001vqu.1_Missense_Mutation_p.M686I|MYO16_uc010tjh.1_Missense_Mutation_p.M398I	NM_001198950	NP_001185879	Q9Y6X6	MYO16_HUMAN	Homo sapiens myosin XVI (MYO16), transcript variant 1, mRNA.	886	Myosin head-like 2.				cerebellum development|negative regulation of S phase of mitotic cell cycle|negative regulation of cell proliferation	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	ATP binding|actin filament binding|motor activity			NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			ACTCCCCCATGAAGGATGGGA	0.433000														47			26		0	0	0.006320	0	0
POFUT1	23509	broad.mit.edu	37	20	30803149	30803149	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr20:30803149C>T	uc002wxp.3	+	2	373	c.324C>T	c.(322-324)ttC>ttT	p.F108F	POFUT1_uc002wxo.3_Silent_p.F108F|POFUT1_uc010ztt.2_5'UTR|POFUT1_uc010ztu.2_Intron	NM_015352	NP_056167	Q9H488	OFUT1_HUMAN	Homo sapiens protein O-fucosyltransferase 1 (POFUT1), transcript variant 1, mRNA.	108					Notch signaling pathway|O-glycan processing|fucose metabolic process|regulation of transcription, DNA-dependent	endoplasmic reticulum|membrane	peptide-O-fucosyltransferase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|urinary_tract(1)	6			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			TGGAGGATTTCATGGAGAAGC	0.577000														51			39		0	0	0.006999	0	0
EMB	133418	broad.mit.edu	37	5	49707186	49707186	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:49707186G>A	uc003jom.3	-	2	477	c.228C>T	c.(226-228)atC>atT	p.I76I	EMB_uc003jol.3_Silent_p.I7I|EMB_uc011cpy.2_Silent_p.I26I	NM_198449	NP_940851	Q6PCB8	EMB_HUMAN	Homo sapiens embigin (EMB), mRNA.	76	Ig-like V-type 1.					integral to membrane				breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	15	Lung SC(58;0.218)	Lung NSC(810;0.0795)				TTTCTAAAGTGATATTTTTTT	0.333000														41			40		0	0	0.013114	0	0
SLC13A1	6561	broad.mit.edu	37	7	122811882	122811882	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:122811882C>T	uc003vkm.3	-	2	330	c.305G>A	c.(304-306)tGg>tAg	p.W102*	SLC13A1_uc010lks.3_5'UTR	NM_022444	NP_071889	Q9BZW2	S13A1_HUMAN	Homo sapiens solute carrier family 13 (sodium/sulfate symporters), member 1 (SLC13A1), mRNA.	102						integral to membrane|plasma membrane	sodium:sulfate symporter activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45					Succinic acid(DB00139)	GTGCAAATTCCATTTTTCTAT	0.378000														51			79		0	0	0.014410	0	0
RHO	6010	broad.mit.edu	37	3	129251558	129251558	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:129251558C>T	uc003emt.3	+	3	974	c.879C>T	c.(877-879)ttC>ttT	p.F293F		NM_000539	NP_000530	P08100	OPSD_HUMAN	Homo sapiens rhodopsin (RHO), mRNA.	293					protein-chromophore linkage|rhodopsin mediated signaling pathway	Golgi apparatus|integral to plasma membrane|photoreceptor inner segment membrane|photoreceptor outer segment membrane	G-protein coupled receptor activity|metal ion binding|photoreceptor activity|protein binding			breast(1)|endometrium(1)|large_intestine(10)|lung(6)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	22		all_neural(597;0.0227)|Myeloproliferative disorder(1037;0.0255)|Prostate(884;0.183)		GBM - Glioblastoma multiforme(114;2.58e-05)|Lung(219;0.0234)	Halothane(DB01159)	TCCCAGCGTTCTTTGCCAAGA	0.582000														33			30		0	0	0.012213	0	0
TCRA	0	broad.mit.edu	37	14	22362919	22362919	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr14:22362919G>A	uc021rpj.1	+	1	221	c.50G>A	c.(49-51)gGa>gAa	p.G17E	TRA_uc021rpa.1_Intron|TCRA_uc001wbw.2_Intron|TCRA_uc021rpe.1_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron					RecName: Full=T-cell receptor alpha chain V region PY14; Flags: Precursor;																		GTTGCAGGAGGAACCAGAGCC	0.483000											OREG0022572	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		29			17		0	0	0.007413	0	0
DNAH9	1770	broad.mit.edu	37	17	11659961	11659961	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr17:11659961G>A	uc002gne.3	+	33	6883	c.6815G>A	c.(6814-6816)cGc>cAc	p.R2272H	DNAH9_uc010coo.3_Missense_Mutation_p.R1566H	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	2272	AAA 2 (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)		AGCCACCTGCGCACAGCCACT	0.547000														64			66		0	0	0.014410	0	0
GHRHR	2692	broad.mit.edu	37	7	31014598	31014598	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:31014598G>A	uc003tbx.3	+	8	873	c.825G>A	c.(823-825)ctG>ctA	p.L275L	GHRHR_uc003tby.3_Silent_p.L211L|GHRHR_uc003tbz.3_Missense_Mutation_p.G42R	NM_000823	NP_000814	Q02643	GHRHR_HUMAN	Homo sapiens growth hormone releasing hormone receptor (GHRHR), mRNA.	275					activation of adenylate cyclase activity by G-protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation|positive regulation of growth hormone secretion|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|response to estrogen stimulus|response to glucocorticoid stimulus	cell surface|integral to membrane|nuclear inner membrane|nuclear matrix|nuclear outer membrane|plasma membrane|stored secretory granule	growth factor binding|growth hormone-releasing hormone receptor activity|peptide hormone binding			biliary_tract(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35					Sermorelin(DB00010)	GCTGGGACCTGGACGACACCT	0.577000											OREG0017943	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		118			36		0	0	0.009718	0	0
CA9	768	broad.mit.edu	37	9	35680799	35680799	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr9:35680799C>T	uc003zxo.4	+	9	1329	c.1287C>T	c.(1285-1287)gtC>gtT	p.V429V		NM_001216	NP_001207	Q16790	CAH9_HUMAN	Homo sapiens carbonic anhydrase IX (CA9), mRNA.	429					one-carbon metabolic process	integral to membrane|microvillus membrane|nucleolus	carbonate dehydratase activity|zinc ion binding			kidney(1)|large_intestine(3)|lung(5)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	17	all_epithelial(49;0.217)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TCACCAGCGTCGCGTTCCTTG	0.552000														38			26		0	0	0.010818	0	0
EEF1D	1936	broad.mit.edu	37	8	144672304	144672304	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr8:144672304G>A	uc003yyq.2	-	0	327	c.98C>T	c.(97-99)cCc>cTc	p.P33L	EEF1D_uc003yyp.2_5'Flank|EEF1D_uc011lki.2_Intron|EEF1D_uc003yyv.3_Intron|EEF1D_uc003yyu.3_Intron|EEF1D_uc011lkk.2_Intron|EEF1D_uc003yyt.3_Intron|EEF1D_uc003yyr.3_Intron|EEF1D_uc003yys.3_Intron|EEF1D_uc011lkl.2_Intron	NM_032378	NP_115754	P29692	EF1D_HUMAN	Homo sapiens eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein) (EEF1D), transcript variant 1, mRNA.	0					positive regulation of I-kappaB kinase/NF-kappaB cascade	cytosol|eukaryotic translation elongation factor 1 complex	protein binding|signal transducer activity|translation elongation factor activity			breast(2)|cervix(1)|endometrium(1)|kidney(4)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			CAACACAGCGGGTGGCCGCAG	0.677000														5			6		0	0	0.001168	0	0
DACH2	117154	broad.mit.edu	37	X	85969711	85969711	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:85969711C>T	uc004eew.2	+	5	1262	c.1092C>T	c.(1090-1092)acC>acT	p.T364T	DACH2_uc004eex.2_Silent_p.T351T|DACH2_uc010nmq.2_Silent_p.T230T|DACH2_uc011mra.1_Silent_p.T197T|DACH2_uc010nmr.2_Silent_p.T145T|DACH2_uc004eey.3_Silent_p.T47T|DACH2_uc004eez.3_Silent_p.T47T	NM_053281	NP_001132987	Q96NX9	DACH2_HUMAN	Homo sapiens dachshund homolog 2 (Drosophila) (DACH2), transcript variant 1, mRNA.	364					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						GAGCTGGTACCTCTGTTATAA	0.398000														34			33		0	0	0.013726	0	0
CRB1	23418	broad.mit.edu	37	1	197390648	197390648	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:197390648G>A	uc001gtz.3	+	5	1899	c.1690G>A	c.(1690-1692)Gat>Aat	p.D564N	CRB1_uc010poz.2_Missense_Mutation_p.D495N|CRB1_uc009wza.3_Missense_Mutation_p.D452N|CRB1_uc010ppa.2_Non-coding_Transcript|CRB1_uc010ppb.2_Missense_Mutation_p.D564N|CRB1_uc010ppc.1_Non-coding_Transcript|CRB1_uc010ppd.2_Missense_Mutation_p.D45N|CRB1_uc001gub.1_Missense_Mutation_p.D213N	NM_201253	NP_957705	P82279	CRUM1_HUMAN	Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA.	564	Laminin G-like 1.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	p.D564D(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						CAACACCAGCGATGGAGAGTG	0.458000														9			231		0	0	0.014410	0	0
KCNH3	23416	broad.mit.edu	37	12	49942799	49942799	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:49942799G>A	uc001ruh.1	+	7	1571	c.1311G>A	c.(1309-1311)ggG>ggA	p.G437G	KCNH3_uc010smj.1_Silent_p.G377G	NM_012284	NP_036416	Q9ULD8	KCNH3_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 3 (KCNH3), mRNA.	437					regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						AGGCCAACGGGACGGGGCTGG	0.682000														15			9		0	0	0.008291	0	0
LTBP2	4053	broad.mit.edu	37	14	74975335	74975335	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr14:74975335G>A	uc001xqa.3	-	23	4011	c.3624C>T	c.(3622-3624)gtC>gtT	p.V1208V		NM_000428	NP_000419	Q14767	LTBP2_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 2 (LTBP2), mRNA.	1208	Cys-rich.|EGF-like 12; calcium-binding (Potential).				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		CCTCTGCGCTGACGAAGCCAG	0.627000														19			12		0	0	0.013537	0	0
MLL	4297	broad.mit.edu	37	11	118344107	118344107	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:118344107C>T	uc001pta.3	+	2	2256	c.2233C>T	c.(2233-2235)Cga>Tga	p.R745*	MLL_uc001ptb.3_Nonsense_Mutation_p.R745*|MLL_uc001psz.1_Nonsense_Mutation_p.R778*|MLL_uc001ptd.1_Intron	NM_005933	NP_005924	Q03164	MLL1_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) (MLL), transcript variant 2, mRNA.	745					apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding			breast(5)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(29)|lung(34)|ovary(6)|pancreas(3)|prostate(8)|skin(6)|urinary_tract(19)	131	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)		TAGTCCTATTCGATCTGAACC	0.438000			"""T, O"""	"""MLL, MLLT1, MLLT2, MLLT3, MLLT4, MLLT7, MLLT10, MLLT6, ELL, EPS15, AF1Q, CREBBP, SH3GL1, FNBP1, PNUTL1, MSF, GPHN, GMPS, SSH3BP1, ARHGEF12, GAS7, FOXO3A, LAF4, LCX, SEPT6, LPP, CBFA2T1, GRAF, EP300, PICALM, HEAB"""	"""AML, ALL"""									3			43		0	0	0.013114	0	0
MALAT1	378938	broad.mit.edu	37	11	65273927	65273927	+	RNA	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:65273927G>A	uc010roh.2	+	0		c.8695G>A								Homo sapiens metastasis associated lung adenocarcinoma transcript 1 (non-protein coding) (MALAT1), non-coding RNA.																		TAATAAAAATGGAGAAGCTCT	0.363000														12			7		0	0	0.006214	0	0
ARL9	132946	broad.mit.edu	37	4	57389937	57389937	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr4:57389937G>A	uc003hby.1	+	3	715	c.267G>A	c.(265-267)aaG>aaA	p.K89K		NM_206919	NP_996802	Q6T311	ARL9_HUMAN	Homo sapiens ADP-ribosylation factor-like 9 (ARL9), mRNA.	153							GTP binding			lung(2)	2	Glioma(25;0.08)|all_neural(26;0.101)					ATGACAGGAAGATGTTCTTGT	0.448000														18			30		0	0	0.009535	0	0
DENND3	22898	broad.mit.edu	37	8	142186849	142186849	+	Missense_Mutation	SNP	G	A	A	rs112917986		TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr8:142186849G>A	uc003yvy.3	+	14	2733	c.2455G>A	c.(2455-2457)Gat>Aat	p.D819N	DENND3_uc010mep.3_Missense_Mutation_p.D780N	NM_014957	NP_055772	A2RUS2	DEND3_HUMAN	Homo sapiens DENN/MADD domain containing 3 (DENND3), mRNA.	819								p.A818A(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			GAAGCTGGCCGATGACCACAA	0.602000														34			30		0	0	0.010818	0	0
PDE1C	5137	broad.mit.edu	37	7	31912913	31912913	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:31912913G>A	uc003tcm.2	-	5	1062	c.601C>T	c.(601-603)Cgt>Tgt	p.R201C	PDE1C_uc003tcn.1_Missense_Mutation_p.R201C|PDE1C_uc003tco.2_Missense_Mutation_p.R261C|PDE1C_uc003tcr.3_Missense_Mutation_p.R201C|PDE1C_uc003tcs.3_Missense_Mutation_p.R201C	NM_001191057	NP_001177988	Q14123	PDE1C_HUMAN	Homo sapiens phosphodiesterase 1C, calmodulin-dependent 70kDa (PDE1C), transcript variant 2, mRNA.	201					activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			ACCTTGAAACGGCTGATCAGA	0.368000														32			52		0	0	0.014410	0	0
CDH13	1012	broad.mit.edu	37	16	83251023	83251023	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr16:83251023G>A	uc010vns.2	+	5	962	c.698G>A	c.(697-699)gGa>gAa	p.G233E	CDH13_uc002fgx.3_Missense_Mutation_p.G186E|CDH13_uc010vnt.2_5'UTR|CDH13_uc010vnu.2_Missense_Mutation_p.G147E	NM_001220488	NP_001207417	P55290	CAD13_HUMAN	Homo sapiens cadherin 13, H-cadherin (heart) (CDH13), transcript variant 2, mRNA.	186	Cadherin 1.				Rac protein signal transduction|Rho protein signal transduction|adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		GAGCCTAAAGGAATTTTCAGA	0.478000														32			24		0	0	0.003330	0	0
PNLIPRP2	5408	broad.mit.edu	37	10	118389458	118389458	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr10:118389458G>A	uc001lcq.3	+	7	605	c.582G>A	c.(580-582)ctG>ctA	p.L194L	PNLIPRP2_uc009xyu.1_Non-coding_Transcript|PNLIPRP2_uc009xyv.1_Non-coding_Transcript	NM_005396	NP_005387	P54317	LIPR2_HUMAN	Homo sapiens pancreatic lipase-related protein 2 (PNLIPRP2), mRNA.	194					galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process	extracellular space	acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity			endometrium(1)|large_intestine(1)|lung(11)|prostate(3)	16				all cancers(201;0.015)		TTTCAGGGCTGGATCCAGCAG	0.532000														4			6		0	0	0.001168	0	0
KLF8	11279	broad.mit.edu	37	X	56310850	56310850	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:56310850C>T	uc004dur.3	+	5	1949	c.1003C>T	c.(1003-1005)Cgg>Tgg	p.R335W	KLF8_uc011mop.2_3'UTR|KLF8_uc010nkh.3_Non-coding_Transcript	NM_007250	NP_009181	O95600	KLF8_HUMAN	Homo sapiens Kruppel-like factor 8 (KLF8), transcript variant 1, mRNA.	335					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(4)|large_intestine(6)|lung(5)|ovary(1)	16						CAAGCCTTTTCGGTGCACAGA	0.547000														19			15		0	0	0.004007	0	0
ANKHD1-EIF4EBP3	404734	broad.mit.edu	37	5	139781650	139781650	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:139781650C>T	uc003lfs.2	+	0	252	c.98C>T	c.(97-99)cCg>cTg	p.P33L	ANKHD1-EIF4EBP3_uc003lfq.2_Missense_Mutation_p.P33L|ANKHD1-EIF4EBP3_uc003lfr.3_Missense_Mutation_p.P33L|BC030152_uc003lfn.3_5'Flank|ANKHD1-EIF4EBP3_uc003lfo.3_Missense_Mutation_p.P33L|ANKHD1-EIF4EBP3_uc003lfp.3_Missense_Mutation_p.P33L|ANKHD1-EIF4EBP3_uc010jfk.3_Missense_Mutation_p.P33L	NM_020690	NP_065741	Q8IWZ2	Q8IWZ2_HUMAN	Homo sapiens ANKHD1-EIF4EBP3 readthrough (ANKHD1-EIF4EBP3), mRNA.	33						cytoplasm|nucleus	RNA binding			breast(1)|endometrium(8)|kidney(6)|large_intestine(14)|lung(17)|ovary(6)|prostate(2)|skin(1)|urinary_tract(2)	57			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGCCGCCTCCGCCGGGAGGG	0.731000														8			8		0	0	0.008291	0	0
CSPG4	1464	broad.mit.edu	37	15	75977730	75977730	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr15:75977730G>A	uc002baw.3	-	3	4195	c.4102C>T	c.(4102-4104)Cct>Tct	p.P1368S		NM_001897	NP_001888	Q6UVK1	CSPG4_HUMAN	Homo sapiens chondroitin sulfate proteoglycan 4 (CSPG4), mRNA.	1368	Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1 (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						CCACCCTCAGGGACGCTGAAG	0.682000														8			5		0	0	0.000602	0	0
ANKS1B	56899	broad.mit.edu	37	12	99898353	99898353	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:99898353G>A	uc001tge.2	-	9	1756	c.1339C>T	c.(1339-1341)Cct>Tct	p.P447S	ANKS1B_uc001tgf.2_Missense_Mutation_p.P27S|ANKS1B_uc009ztt.1_Missense_Mutation_p.P413S	NM_152788	NP_690001	Q7Z6G8	ANS1B_HUMAN	Homo sapiens ankyrin repeat and sterile alpha motif domain containing 1B (ANKS1B), transcript variant 1, mRNA.	447						Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		TTTTCTGAAGGAAATGTATCC	0.388000														14			7		0	0	0.003080	0	0
COL1A2	1278	broad.mit.edu	37	7	94045765	94045765	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:94045765C>T	uc003ung.1	+	30	2284	c.1813C>T	c.(1813-1815)Cct>Tct	p.P605S	COL1A2_uc011kib.1_Intron|COL1A2_uc010lfi.1_5'Flank	NM_000089	NP_000080	P08123	CO1A2_HUMAN	Homo sapiens collagen, type I, alpha 2 (COL1A2), mRNA.	605					Rho protein signal transduction|axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	TCCTACTGGTCCTATTGGAAG	0.502000										HNSCC(75;0.22)				4			9		0	0	0.008291	0	0
RP1	6101	broad.mit.edu	37	8	55542052	55542052	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr8:55542052C>T	uc003xsd.1	+	3	5758	c.5610C>T	c.(5608-5610)tcC>tcT	p.S1870S	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	1870					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)			TCACTCATTCCTTTATTTCTG	0.408000														30			22		0	0	0.014323	0	0
KCNAB1	7881	broad.mit.edu	37	3	156183475	156183475	+	Splice_Site	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:156183475G>A	uc003far.2	+	7	635	c.571_splice	c.e7+1	p.G191_splice	KCNAB1_uc011bon.1_Splice_Site_p.E191_splice|KCNAB1_uc003fas.2_Splice_Site_p.G180_splice|KCNAB1_uc003fat.2_Splice_Site_p.G173_splice|KCNAB1_uc010hvt.1_Splice_Site_p.E173_splice|KCNAB1_uc011boo.1_Splice_Site_p.G67_splice	NM_172160	NP_751892	Q14722	KCAB1_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, beta member 1 (KCNAB1), transcript variant 1, mRNA.	191						cytoplasm|integral to membrane	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			TATTATTGAAGGTGGGTACTT	0.378000														27			18		0	0	0.007413	0	0
KLF4	9314	broad.mit.edu	37	9	110249648	110249648	+	Missense_Mutation	SNP	G	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr9:110249648G>T	uc004bdh.3	-	2	1621	c.1000C>A	c.(1000-1002)Cac>Aac	p.H334N	KLF4_uc004bdf.2_Missense_Mutation_p.H293N|KLF4_uc022blk.1_Intron|KLF4_uc004bdg.3_Missense_Mutation_p.H343N	NM_004235	NP_004226	O43474	KLF4_HUMAN	Homo sapiens Kruppel-like factor 4 (gut) (KLF4), mRNA.	343	Pro-rich.				fat cell differentiation|mesodermal cell fate determination|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|stem cell maintenance|transcription from RNA polymerase II promoter	nucleus	RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor recruiting transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(5)|large_intestine(1)|lung(3)|pancreas(1)|prostate(2)	16						GGCCCCGGGTGGGGATGGAAG	0.652000														0			7		8.12818e-05	0.000109562	0.001984	1	0
PCDHB17	54661	broad.mit.edu	37	5	140536746	140536746	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:140536746C>T	uc003lis.3	+	0	1167	c.1167C>T	c.(1165-1167)ctC>ctT	p.L389L						Homo sapiens protocadherin beta 17 pseudogene (PCDHB17), non-coding RNA.																		AAGACCATCTCCCTTTCCTTC	0.453000														7			8		0	0	0.003080	0	0
TPTE2	93492	broad.mit.edu	37	13	20000566	20000566	+	Splice_Site	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr13:20000566G>A	uc001umd.3	-	19	1606	c.1395_splice	c.e19+1	p.S465_splice	TPTE2_uc009zzk.3_Intron|TPTE2_uc009zzl.3_Splice_Site_p.S354_splice|TPTE2_uc001ume.3_Splice_Site_p.S388_splice|TPTE2_uc009zzm.3_Splice_Site_p.S136_splice|TPTE2_uc010tcm.2_Splice_Site|TPTE2_uc010tcl.2_Splice_Site_p.S136_splice	NM_199254	NP_954863	Q6XPS3	TPTE2_HUMAN	Homo sapiens transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 (TPTE2), transcript variant 3, mRNA.	465	C2 tensin-type.					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		ATTACTCACCGAAGAGAAAAA	0.368000														86			11		0	0	0.004007	0	0
BTN3A3	10384	broad.mit.edu	37	6	26452373	26452373	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr6:26452373C>T	uc003nhz.3	+	10	1732	c.1489C>T	c.(1489-1491)Cct>Tct	p.P497S	BTN3A3_uc011dkn.2_Missense_Mutation_p.P448S|BTN3A3_uc021ynh.1_Missense_Mutation_p.P287S	NM_006994	NP_008925	O00478	BT3A3_HUMAN	Homo sapiens butyrophilin, subfamily 3, member A3 (BTN3A3), transcript variant 1, mRNA.	497	B30.2/SPRY.					integral to membrane				cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30						GCCTCTATATCCTGTTTTCAG	0.478000														106			51		0	0	0.014410	0	0
PLCE1	51196	broad.mit.edu	37	10	96064324	96064324	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr10:96064324G>A	uc001kjk.3	+	24	6178	c.5544G>A	c.(5542-5544)aaG>aaA	p.K1848K	PLCE1_uc010qnx.2_Silent_p.K1832K|PLCE1_uc001kjm.3_Silent_p.K1540K|PLCE1_uc001kjp.3_Silent_p.K206K	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN	Homo sapiens phospholipase C, epsilon 1 (PLCE1), transcript variant 1, mRNA.	1848					Ras protein signal transduction|activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of cell growth|regulation of smooth muscle contraction	Golgi membrane|cytosol|membrane fraction|plasma membrane	Ras GTPase binding|calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				TGTGGGACAAGAACTGCCCCA	0.413000														72			51		0	0	0.014410	0	0
FBLN5	10516	broad.mit.edu	37	14	92403312	92403312	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr14:92403312C>T	uc010aue.3	-	4	954	c.481G>A	c.(481-483)Gat>Aat	p.D161N	FBLN5_uc010aud.3_Missense_Mutation_p.D125N|FBLN5_uc001xzx.4_Missense_Mutation_p.D120N	NM_006329	NP_006320	Q9UBX5	FBLN5_HUMAN	Homo sapiens fibulin 5 (FBLN5), mRNA.	120	EGF-like 2; calcium-binding (Potential).				cell-matrix adhesion|elastic fiber assembly|protein localization at cell surface|regulation of removal of superoxide radicals	extracellular space|proteinaceous extracellular matrix|soluble fraction	calcium ion binding|integrin binding|protein C-terminus binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	28		all_cancers(154;0.0722)				TTGCTTTCATCCATCTGGTAT	0.537000														49			47		0	0	0.014410	0	0
DMD	1756	broad.mit.edu	37	X	31645817	31645817	+	Silent	SNP	T	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:31645817T>A	uc004dda.1	-	54	8434	c.8190A>T	c.(8188-8190)ggA>ggT	p.G2730G	DMD_uc004dcr.1_Silent_p.G270G|DMD_uc004dcs.1_Silent_p.G270G|DMD_uc004dct.1_Silent_p.G270G|DMD_uc004dcu.1_Silent_p.G270G|DMD_uc004dcv.1_Silent_p.G270G|DMD_uc004dcw.2_Silent_p.G1386G|DMD_uc004dcx.2_Silent_p.G1389G|DMD_uc004dcz.2_Silent_p.G2607G|DMD_uc004dcy.1_Silent_p.G2726G|DMD_uc004ddb.1_Silent_p.G2722G	NM_004006	NP_004001	P11532	DMD_HUMAN	Homo sapiens dystrophin (DMD), transcript variant Dp427m, mRNA.	2730					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				GCTCTTTTACTCCCTTGGAGT	0.438000														24			9		0	0	0.010729	0	0
C8orf34	116328	broad.mit.edu	37	8	69351778	69351778	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr8:69351778C>T	uc010lyz.3	+	1	663	c.372C>T	c.(370-372)atC>atT	p.I124I	C8orf34_uc010lyx.2_Silent_p.I124I|C8orf34_uc010lyy.2_Silent_p.I124I|C8orf34_uc003xyb.3_Silent_p.I13I	NM_052958	NP_443190	Q49A92	CH034_HUMAN	Homo sapiens chromosome 8 open reading frame 34 (C8orf34), transcript variant 1, mRNA.	38					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)			ACCAGCCAATCCCATTTCTCA	0.388000														28			18		0	0	0.014323	0	0
PPEF2	5470	broad.mit.edu	37	4	76782056	76782056	+	Missense_Mutation	SNP	C	T	T	rs138073376	by1000genomes	TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr4:76782056C>T	uc003hix.3	-	16	2383	c.2026G>A	c.(2026-2028)Gag>Aag	p.E676K	PPEF2_uc003hiy.3_Non-coding_Transcript	NM_006239	NP_006230	O14830	PPE2_HUMAN	Homo sapiens protein phosphatase, EF-hand calcium binding domain 2 (PPEF2), mRNA.	676	EF-hand 2.				detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	Hsp70 protein binding|Hsp90 protein binding|calcium ion binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			TGCCTGAACTCGTCCAGTGAG	0.428000														43			30		0	0	0.003755	0	0
RXFP2	122042	broad.mit.edu	37	13	32376410	32376410	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr13:32376410G>A	uc001utt.3	+	17	2204	c.2133G>A	c.(2131-2133)agG>agA	p.R711R	RXFP2_uc010aba.3_Silent_p.R687R	NM_130806	NP_570718	Q8WXD0	RXFP2_HUMAN	Homo sapiens relaxin/insulin-like family peptide receptor 2 (RXFP2), transcript variant 1, mRNA.	711						integral to membrane|plasma membrane				cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		AACATCAGAGGAAATCAATTT	0.353000														60			48		0	0	0.014410	0	0
TNXB	7148	broad.mit.edu	37	6	32053851	32053851	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr6:32053851G>A	uc003nzl.2	-	6	3026	c.2824C>T	c.(2824-2826)Ccc>Tcc	p.P942S		NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	1030	Fibronectin type-III 2.				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						GGGCCTGAGGGAGGAGGCTCA	0.627000														123			57		0	0	0.014410	0	0
TDGF1P3	6998	broad.mit.edu	37	X	109764816	109764816	+	RNA	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:109764816G>A	uc004eos.1	+	0		c.1277G>A								Homo sapiens teratocarcinoma-derived growth factor 1 pseudogene 3 (TDGF1P3), non-coding RNA.																		ATGGCCTTGTGATGGATGAGC	0.532000														25			21		0	0	0.012319	0	0
DMD	1756	broad.mit.edu	37	X	31645819	31645819	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:31645819C>T	uc004dda.1	-	54	8432	c.8188G>A	c.(8188-8190)Gga>Aga	p.G2730R	DMD_uc004dcr.1_Missense_Mutation_p.G270R|DMD_uc004dcs.1_Missense_Mutation_p.G270R|DMD_uc004dct.1_Missense_Mutation_p.G270R|DMD_uc004dcu.1_Missense_Mutation_p.G270R|DMD_uc004dcv.1_Missense_Mutation_p.G270R|DMD_uc004dcw.2_Missense_Mutation_p.G1386R|DMD_uc004dcx.2_Missense_Mutation_p.G1389R|DMD_uc004dcz.2_Missense_Mutation_p.G2607R|DMD_uc004dcy.1_Missense_Mutation_p.G2726R|DMD_uc004ddb.1_Missense_Mutation_p.G2722R	NM_004006	NP_004001	P11532	DMD_HUMAN	Homo sapiens dystrophin (DMD), transcript variant Dp427m, mRNA.	2730					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TCTTTTACTCCCTTGGAGTCT	0.443000														25			9		0	0	0.010729	0	0
ZC3HAV1	56829	broad.mit.edu	37	7	138764796	138764796	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:138764796G>A	uc003vun.3	-	3	1279	c.891C>T	c.(889-891)ttC>ttT	p.F297F	ZC3HAV1_uc003vuo.3_5'Flank|ZC3HAV1_uc003vup.3_Silent_p.F297F	NM_020119	NP_064504	Q7Z2W4	ZCCHV_HUMAN	Homo sapiens zinc finger CCCH-type, antiviral 1 (ZC3HAV1), transcript variant 1, mRNA.	297					response to virus	cytoplasm|nucleus	NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding			cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						CCAGATACGTGAACTTGCGGG	0.597000														59			26		0	0	0.003330	0	0
UMODL1	89766	broad.mit.edu	37	21	43547300	43547300	+	Missense_Mutation	SNP	A	G	G			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr21:43547300A>G	uc002zag.1	+	17	3862	c.3862A>G	c.(3862-3864)Acc>Gcc	p.T1288A	UMODL1_uc002zad.1_Missense_Mutation_p.T1088A|UMODL1_uc002zae.1_Missense_Mutation_p.T1216A|UMODL1_uc002zaf.1_Missense_Mutation_p.T1160A|UMODL1_uc002zal.1_Missense_Mutation_p.T110A|UMODL1_uc010gpa.1_5'Flank	NM_173568	NP_001186456	Q5DID0	UROL1_HUMAN	Homo sapiens uromodulin-like 1 (UMODL1), transcript variant 2, mRNA.	1160						cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						GTGCTGGGCAACCCCGTCTAG	0.572000														19			27		0	0	0.003954	0	0
ARMC4	55130	broad.mit.edu	37	10	28284003	28284003	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr10:28284003G>A	uc009xky.3	-	1	167	c.69C>T	c.(67-69)atC>atT	p.I23I	ARMC4_uc001itz.3_Silent_p.I23I	NM_018076	NP_060546	Q5T2S8	ARMC4_HUMAN	Homo sapiens armadillo repeat containing 4 (ARMC4), mRNA.	23							binding	p.E22K(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						TTAGAGGGGTGATTTCGAGGA	0.448000														32			14		0	0	0.006122	0	0
SUN5	140732	broad.mit.edu	37	20	31577467	31577467	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr20:31577467C>T	uc002wyi.3	-	8	665	c.572G>A	c.(571-573)gGa>gAa	p.G191E		NM_080675	NP_542406	Q8TC36	SUN5_HUMAN	Homo sapiens Sad1 and UNC84 domain containing 5 (SUN5), mRNA.	191					spermatogenesis			p.H190Q(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	25						GATGTAATCTCCGTGTATCAT	0.488000														35			22		0	0	0.005443	0	0
DNAH5	1767	broad.mit.edu	37	5	13766175	13766175	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:13766175C>T	uc003jfd.2	-	58	10053	c.10011G>A	c.(10009-10011)gtG>gtA	p.V3337V	DNAH5_uc003jfc.2_5'UTR	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3337	Stalk (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)					GGTCAATTTTCACAGCACTGA	0.493000									Kartagener syndrome					64			36		0	0	0.004878	0	0
PRAMEF14	729528	broad.mit.edu	37	1	13669144	13669144	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:13669144C>T	uc009vnw.1	-	3	1225	c.1042G>A	c.(1042-1044)Gac>Aac	p.D348N		NM_001099854	NP_001093324	Q5SWL7	PRA14_HUMAN	Homo sapiens PRAME family member 14 (PRAMEF14), mRNA.	348										large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	3	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CACAACAGGTCCTTCAGGGCA	0.542000														73			54		0	0	0.014410	0	0
SCGB2B2	284402	broad.mit.edu	37	19	35085245	35085245	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:35085245G>A	uc002nvn.3	-	1	103	c.81C>T	c.(79-81)atC>atT	p.I27I		NM_001025591	NP_001020762	Q4G0G5	SCGBL_HUMAN	Homo sapiens secretoglobin, family 2B, member 2 (SCGB2B2), mRNA.	27						extracellular region	binding										GCAGTTTATCGATATCCAGGC	0.517000														32			39		0	0	0.010771	0	0
ALOX15B	247	broad.mit.edu	37	17	7948223	7948223	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr17:7948223C>T	uc002gju.3	+	5	869	c.753C>T	c.(751-753)atC>atT	p.I251I	ALOX15B_uc002gjv.3_Silent_p.I251I|ALOX15B_uc002gjw.3_Silent_p.I251I|ALOX15B_uc010vun.2_Silent_p.I251I|ALOX15B_uc010cnp.3_Silent_p.I57I	NM_001141	NP_001132	O15296	LX15B_HUMAN	Homo sapiens arachidonate 15-lipoxygenase, type B (ALOX15B), transcript variant d, mRNA.	251	Lipoxygenase.				induction of apoptosis|leukotriene biosynthetic process|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of growth|prostate gland development|regulation of epithelial cell differentiation	cytoplasm	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity	p.L250L(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	24						CTGTCCTGATCCGCCGCTGTC	0.607000														23			22		0	0	0.014323	0	0
ZNF474	133923	broad.mit.edu	37	5	121487967	121487967	+	Silent	SNP	C	T	T	rs144735279	byFrequency	TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:121487967C>T	uc003ksv.3	+	1	658	c.282C>T	c.(280-282)ttC>ttT	p.F94F	ZNF474_uc021ycy.1_Silent_p.F94F	NM_207317	NP_997200	Q6S9Z5	ZN474_HUMAN	Homo sapiens zinc finger protein 474 (ZNF474), mRNA.	94						intracellular	zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|stomach(1)	21		all_cancers(142;0.229)|Prostate(80;0.0387)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000197)|Epithelial(69;0.00029)|all cancers(49;0.00415)		GGCCTGGATTCCGGGTATGCT	0.498000														54			58		0	0	0.014410	0	0
HPGD	3248	broad.mit.edu	37	4	175413236	175413236	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr4:175413236C>T	uc003itu.2	-	6	862	c.672G>A	c.(670-672)ttG>ttA	p.L224L	HPGD_uc003itv.2_Missense_Mutation_p.D170N|HPGD_uc011ckf.1_Silent_p.L103L|HPGD_uc010irq.2_Silent_p.*144*|HPGD_uc011ckg.1_Silent_p.L156L|HPGD_uc011ckh.1_Silent_p.L103L	NM_000860	NP_000851	P15428	PGDH_HUMAN	Homo sapiens hydroxyprostaglandin dehydrogenase 15-(NAD) (HPGD), transcript variant 1, mRNA.	224					female pregnancy|lipoxygenase pathway|negative regulation of cell cycle|parturition|prostaglandin metabolic process|transforming growth factor beta receptor signaling pathway	cytosol|nucleus	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|NAD+ binding|prostaglandin E receptor activity|protein homodimerization activity			kidney(1)|lung(3)|prostate(3)	7		Prostate(90;0.00763)|Melanoma(52;0.0179)|Renal(120;0.0376)|Breast(14;0.0991)|all_hematologic(60;0.124)|all_neural(102;0.196)		all cancers(43;2.6e-18)|Epithelial(43;4.19e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.23e-09)|GBM - Glioblastoma multiforme(59;0.00176)|STAD - Stomach adenocarcinoma(60;0.00299)|LUSC - Lung squamous cell carcinoma(193;0.0253)	NADH(DB00157)	CATTGGCAATCAATGGTGGGC	0.303000														106			78		0	0	0.014410	0	0
CD28	940	broad.mit.edu	37	2	204594400	204594400	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:204594400C>T	uc002vah.4	+	2	661	c.439C>T	c.(439-441)Ccc>Tcc	p.P147S	CD28_uc010zio.2_Missense_Mutation_p.P50S|CD28_uc010ftx.3_Missense_Mutation_p.P28S|CD28_uc002vaj.4_Intron|CD28_uc002vag.1_Non-coding_Transcript	NM_006139	NP_006130	P10747	CD28_HUMAN	Homo sapiens CD28 molecule (CD28), transcript variant 1, mRNA.	147					T cell costimulation|cell surface receptor linked signaling pathway|cytokine biosynthetic process|humoral immune response|positive regulation of anti-apoptosis|positive regulation of interleukin-2 biosynthetic process|positive regulation of mitosis|positive regulation of translation|positive regulation of viral genome replication|regulation of defense response to virus by virus|regulatory T cell differentiation|viral reproduction	cytosol|external side of plasma membrane|integral to plasma membrane	SH3/SH2 adaptor activity|coreceptor activity|protease binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13						TCCCCTATTTCCCGGACCTTC	0.438000														57			50		0	0	0.014410	0	0
CUBN	8029	broad.mit.edu	37	10	16882450	16882450	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr10:16882450G>A	uc001ioo.3	-	61	9963	c.9911C>T	c.(9910-9912)tCc>tTc	p.S3304F		NM_001081	NP_001072	O60494	CUBN_HUMAN	Homo sapiens cubilin (intrinsic factor-cobalamin receptor) (CUBN), mRNA.	3304	CUB 25.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AGTACAGATGGAAAATGGGAC	0.473000														18			14		0	0	0.001855	0	0
MPHOSPH8	54737	broad.mit.edu	37	13	20222625	20222625	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr13:20222625G>A	uc001umh.3	+	3	1383	c.1282G>A	c.(1282-1284)Gaa>Aaa	p.E428K	MPHOSPH8_uc001umg.3_Missense_Mutation_p.E428K|MPHOSPH8_uc001umi.3_Missense_Mutation_p.E125K	NM_017520	NP_059990	Q99549	MPP8_HUMAN	Homo sapiens M-phase phosphoprotein 8 (MPHOSPH8), mRNA.	428					cell cycle	cytoplasm|nucleus				breast(2)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367)		all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795)		TTCTGACAAGGAAGAAAAAGG	0.318000														11			16		0	0	0.007413	0	0
UNC79	57578	broad.mit.edu	37	14	94007029	94007029	+	Missense_Mutation	SNP	A	G	G			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr14:94007029A>G	uc001ybv.1	+	9	928	c.845A>G	c.(844-846)cAt>cGt	p.H282R	UNC79_uc001ybs.1_Missense_Mutation_p.H282R|UNC79_uc001ybu.1_Missense_Mutation_p.H220R	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	Homo sapiens unc-79 homolog (C. elegans) (UNC79), mRNA.	459						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						GCCGAGTTCCATGCTGAGCAG	0.488000														35			34		0	0	0.006999	0	0
C12orf42	374470	broad.mit.edu	37	12	103696160	103696160	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:103696160C>T	uc001tjt.2	-	5	897	c.809G>A	c.(808-810)gGa>gAa	p.G270E	C12orf42_uc001tjs.3_Intron|C12orf42_uc009zuf.1_Missense_Mutation_p.G270E|C12orf42_uc001tju.2_Missense_Mutation_p.G175E	NM_198521	NP_940923	Q96LP6	CL042_HUMAN	Homo sapiens chromosome 12 open reading frame 42 (C12orf42), transcript variant 1, mRNA.	270										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)	22						GACGGGATTTCCGGACGCGCC	0.662000														28			19		0	0	0.014323	0	0
UBIAD1	29914	broad.mit.edu	37	1	11333829	11333829	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:11333829C>T	uc001asg.3	+	0	575	c.241C>T	c.(241-243)Ccc>Tcc	p.P81S		NM_013319	NP_037451	Q9Y5Z9	UBIA1_HUMAN	Homo sapiens UbiA prenyltransferase domain containing 1 (UBIAD1), mRNA.	81					menaquinone biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrion|nucleus	prenyltransferase activity			endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(3)	12	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.012)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.52e-06)|COAD - Colon adenocarcinoma(227;0.000254)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0487)		TGTCCTGGATCCCAGGCTCTT	0.597000														59			49		0	0	0.014410	0	0
FRMPD2	143162	broad.mit.edu	37	10	49400782	49400782	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr10:49400782C>T	uc001jgi.3	-	15	2441	c.2110G>A	c.(2110-2112)Gat>Aat	p.D704N	FRMPD2_uc001jgh.3_Missense_Mutation_p.D672N|FRMPD2_uc001jgj.3_Missense_Mutation_p.D673N	NM_001018071	NP_001018081	Q68DX3	FRPD2_HUMAN	Homo sapiens FERM and PDZ domain containing 2 (FRMPD2), transcript variant 3, mRNA.	704					tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding	p.D704Y(2)		NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		TTGAAGTTATCCATTGATGTA	0.522000														26			25		0	0	0.004656	0	0
ARHGEF19	128272	broad.mit.edu	37	1	16534707	16534707	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:16534707C>T	uc001ayc.1	-	2	563	c.426G>A	c.(424-426)cgG>cgA	p.R142R	ARHGEF19_uc009voo.1_5'Flank	NM_153213	NP_694945	Q8IW93	ARHGJ_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 19 (ARHGEF19), mRNA.	142					regulation of actin cytoskeleton organization	intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)		GCTGGTACACCCGCATCTTGC	0.682000														0			20		0	0	0.012319	0	0
METTL2A	339175	broad.mit.edu	37	17	60503709	60503709	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr17:60503709C>T	uc002izv.2	+	2	270	c.252C>T	c.(250-252)atC>atT	p.I84I	METTL2A_uc002izw.3_5'UTR	NM_181725	NP_859076	Q96IZ6	MTL2A_HUMAN	Homo sapiens methyltransferase like 2A (METTL2A), mRNA.	84							methyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(1)|upper_aerodigestive_tract(2)	6			BRCA - Breast invasive adenocarcinoma(2;1.08e-10)			TCTACAAAATCCACGAAAATG	0.348000														19			14		0	0	0.003954	0	0
RAP1GAP2	23108	broad.mit.edu	37	17	2923809	2923809	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr17:2923809G>A	uc010ckd.3	+	18	1761	c.1671G>A	c.(1669-1671)cgG>cgA	p.R557R	RAP1GAP2_uc010cke.3_Silent_p.R542R	NM_015085	NP_055900	Q684P5	RPGP2_HUMAN	Homo sapiens RAP1 GTPase activating protein 2 (RAP1GAP2), transcript variant 1, mRNA.	557					regulation of small GTPase mediated signal transduction	centrosome|cytosol|perinuclear region of cytoplasm	GTPase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	11						ACCAGTCACGGAGTCCCATCA	0.612000														7			16		0	0	0.004007	0	0
HSPG2	3339	broad.mit.edu	37	1	22168773	22168773	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:22168773G>A	uc009vqd.3	-	67	9054	c.9014C>T	c.(9013-9015)tCc>tTc	p.S3005F	HSPG2_uc001bfj.3_Missense_Mutation_p.S3004F	NM_005529	NP_005520	P98160	PGBM_HUMAN	Homo sapiens heparan sulfate proteoglycan 2 (HSPG2), mRNA.	3004	Ig-like C2-type 15.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	GACTGTGAAGGAGGCTTCTTG	0.652000														20			9		0	0	0.008291	0	0
EPB41L2	2037	broad.mit.edu	37	6	131199260	131199260	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr6:131199260G>A	uc003qch.2	-	13	2209	c.2027C>T	c.(2026-2028)tCc>tTc	p.S676F	EPB41L2_uc003qce.1_Missense_Mutation_p.S54F|EPB41L2_uc003qcf.1_Non-coding_Transcript|EPB41L2_uc010kfl.2_Intron|EPB41L2_uc003qcg.1_Intron|EPB41L2_uc003qci.3_Intron|EPB41L2_uc011eby.2_Intron|EPB41L2_uc010kfk.2_Intron|EPB41L2_uc003qcj.1_Missense_Mutation_p.S21F	NM_001431	NP_001422	O43491	E41L2_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1-like 2 (EPB41L2), transcript variant 1, mRNA.	676	Spectrin--actin-binding.				cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		TGTCTGTAGGGACAGAGGTGT	0.423000														7			39		0	0	0.014410	0	0
CUBN	8029	broad.mit.edu	37	10	17152983	17152983	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr10:17152983G>A	uc001ioo.3	-	8	1002	c.950C>T	c.(949-951)tCt>tTt	p.S317F		NM_001081	NP_001072	O60494	CUBN_HUMAN	Homo sapiens cubilin (intrinsic factor-cobalamin receptor) (CUBN), mRNA.	317	EGF-like 4; calcium-binding (Potential).				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TGGAGCCACAGAACAGCCGCC	0.493000														23			21		0	0	0.004656	0	0
MYO16	23026	broad.mit.edu	37	13	109707898	109707898	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr13:109707898G>A	uc010agk.2	+	26	3912	c.3290G>A	c.(3289-3291)cGa>cAa	p.R1097Q	MYO16_uc001vqt.1_Missense_Mutation_p.R1075Q|MYO16_uc001vqu.1_Missense_Mutation_p.R875Q|MYO16_uc010tjh.1_Missense_Mutation_p.R587Q	NM_001198950	NP_001185879	Q9Y6X6	MYO16_HUMAN	Homo sapiens myosin XVI (MYO16), transcript variant 1, mRNA.	1075	Myosin head-like 2.				cerebellum development|negative regulation of S phase of mitotic cell cycle|negative regulation of cell proliferation	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	ATP binding|actin filament binding|motor activity			NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			AAGATCTTCCGATATGGATAC	0.438000														75			73		0	0	0.014410	0	0
MDC1	9656	broad.mit.edu	37	6	30670992	30670992	+	Silent	SNP	A	G	G			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr6:30670992A>G	uc003nrg.4	-	11	6194	c.5754T>C	c.(5752-5754)ggT>ggC	p.G1918G	MDC1_uc003nrf.4_Silent_p.G549G	NM_014641	NP_055456	Q14676	MDC1_HUMAN	Homo sapiens mediator of DNA-damage checkpoint 1 (MDC1), mRNA.	1918	BRCT 1.|Required for nuclear localization (NLS2).				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|kidney(1)|ovary(1)	4						CTGCCGCTGAACCAGCCAGAC	0.627000								Other conserved DNA damage response genes						45			15		0	0	0.002450	0	0
FAM83C	128876	broad.mit.edu	37	20	33874741	33874741	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr20:33874741G>A	uc021wck.1	-	3	1959	c.1841C>T	c.(1840-1842)tCc>tTc	p.S614F	EIF6_uc002xbv.1_5'Flank|EIF6_uc002xbx.1_5'Flank|EIF6_uc002xbz.1_5'Flank|EIF6_uc002xby.1_5'Flank|FAM83C_uc002xcb.1_Missense_Mutation_p.S269F	NM_178468	NP_848563	Q9BQN1	FA83C_HUMAN	Homo sapiens family with sequence similarity 83, member C (FAM83C), mRNA.	614										central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(18;0.00252)			TCTGGCTGAGGAGTTGGTTTC	0.617000														31			21		0	0	0.014323	0	0
CSMD1	64478	broad.mit.edu	37	8	2808674	2808674	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr8:2808674G>A	uc022aqr.1	-	65	10553	c.10163C>T	c.(10162-10164)aCc>aTc	p.T3388I	CSMD1_uc011kwj.2_Missense_Mutation_p.T2703I|CSMD1_uc010lrg.3_Missense_Mutation_p.T1280I	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	3389						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)		TTCGCTGAAGGTGGCATTCAC	0.453000														18			16		0	0	0.004007	0	0
NUP98	4928	broad.mit.edu	37	11	3781853	3781853	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:3781853G>A	uc001lyh.3	-	9	1511	c.1090C>T	c.(1090-1092)Ctg>Ttg	p.L364L	NUP98_uc001lyi.3_Silent_p.L364L|NUP98_uc001lyj.2_Silent_p.L364L|NUP98_uc001lyk.2_Silent_p.L364L	NM_016320	NP_057404	P52948	NUP98_HUMAN	Homo sapiens nucleoporin 98kDa (NUP98), transcript variant 1, mRNA.	364	Gly/Thr-rich.				DNA replication|carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|mitotic prometaphase|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	Nup107-160 complex|cytosol|nuclear membrane|nucleoplasm	protein binding|structural constituent of nuclear pore|transporter activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		TTGCCAAACAGGGTCTAAAAA	0.403000			T	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""	AML									50			26		0	0	0.007291	0	0
C1orf168	199920	broad.mit.edu	37	1	57254736	57254736	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:57254736G>A	uc001cym.4	-	2	1235	c.829C>T	c.(829-831)Cct>Tct	p.P277S	C1orf168_uc009vzu.1_Non-coding_Transcript|C1orf168_uc009vzv.1_Missense_Mutation_p.P277S	NM_001004303	NP_001004303	Q5VWT5	CA168_HUMAN	Homo sapiens chromosome 1 open reading frame 168 (C1orf168), mRNA.	277										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						GGGGGAGGAGGACCCAGGGAG	0.517000														4			61		0	0	0.014410	0	0
CACNA1D	776	broad.mit.edu	37	3	53783436	53783436	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:53783436C>T	uc003dgv.4	+	26	3619	c.3456C>T	c.(3454-3456)atC>atT	p.I1152I	CACNA1D_uc003dgu.4_Silent_p.I1172I|CACNA1D_uc003dgy.4_Silent_p.I1152I|CACNA1D_uc003dgw.4_Silent_p.I819I|CACNA1D_uc003dgx.1_Silent_p.I300I	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1D subunit (CACNA1D), transcript variant 2, mRNA.	1152	Dihydropyridine binding (By similarity).				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	GCTTTGTCATCGTTACATTTC	0.418000														29			20		0	0	0.010504	0	0
DNAH7	56171	broad.mit.edu	37	2	196746611	196746611	+	Nonsense_Mutation	SNP	G	A	A	rs149212659		TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:196746611G>A	uc002utj.4	-	35	5970	c.5869C>T	c.(5869-5871)Cga>Tga	p.R1957*		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	1957	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.R1957*(2)		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						GCAGAGTATCGAATTGTGTCC	0.378000														56			31		0	0	0.009535	0	0
CYP3A7	1551	broad.mit.edu	37	7	99273791	99273791	+	Missense_Mutation	SNP	T	C	C			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:99273791T>C	uc003urq.3	-	1	214	c.112A>G	c.(112-114)Att>Gtt	p.I38V	ZNF498_uc003urn.3_Intron|CYP3A7_uc003urr.3_5'UTR|CYP3A7_uc011kiy.2_Missense_Mutation_p.I28V|CYP3A7_uc003urs.3_Intron|CYP3A7_uc010lgg.3_Intron|CYP3A7_uc003urt.3_Missense_Mutation_p.I38V	NM_000777	NP_000768	P24462	CP3A7_HUMAN	Homo sapiens cytochrome P450, family 3, subfamily A, polypeptide 5 (CYP3A5), transcript variant 1, mRNA.	38					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	32	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)					GGCCCTGGAATTCCCAGTCTC	0.453000														73			39		0	0	0.010771	0	0
TLL1	7092	broad.mit.edu	37	4	166916232	166916232	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr4:166916232C>T	uc003irh.2	+	4	1181	c.534C>T	c.(532-534)ttC>ttT	p.F178F	TLL1_uc021xud.1_Silent_p.F178F|TLL1_uc011cjn.2_Silent_p.F178F|TLL1_uc011cjo.2_Silent_p.F2F	NM_012464	NP_036596	O43897	TLL1_HUMAN	Homo sapiens tolloid-like 1 (TLL1), transcript variant 1, mRNA.	178	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)		GAGCCATGTTCAAGCAGGCCA	0.453000														53			50		0	0	0.014410	0	0
KCNJ18	100134444	broad.mit.edu	37	17	21319082	21319082	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr17:21319082C>T	uc021tss.1	+	2	798	c.428C>T	c.(427-429)aCc>aTc	p.T143I	KCNJ18_uc002gyv.1_Missense_Mutation_p.T143I|KCNJ18_uc021tst.1_Missense_Mutation_p.T143I	NM_001194958	NP_001181887	B7U540	IRK18_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 18 (KCNJ18), mRNA.	143						integral to membrane	inward rectifier potassium channel activity										ACGCAGACCACCATCGGCTAC	0.657000														31			5		0	0	0.003080	0	0
OR51D1	390038	broad.mit.edu	37	11	4661092	4661092	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:4661092C>T	uc010qyk.2	+	0	148	c.72C>T	c.(70-72)ttC>ttT	p.F24F		NM_001004751	NP_001004751	Q8NGF3	O51D1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily D, member 1 (OR51D1), mRNA.	24					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)		CAGCATACTTCCTTTTGGTGG	0.502000														60			49		0	0	0.014410	0	0
SORBS2	8470	broad.mit.edu	37	4	186545032	186545032	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr4:186545032G>A	uc003iyg.3	-	12	1913	c.1881C>T	c.(1879-1881)ttC>ttT	p.F627F	SORBS2_uc003iyh.3_Intron|SORBS2_uc011ckw.2_Intron|SORBS2_uc003iyi.3_Intron|SORBS2_uc011ckx.2_Intron|SORBS2_uc003iyk.3_Intron|SORBS2_uc003iym.3_Silent_p.F613F|SORBS2_uc003iyl.3_Silent_p.F513F|SORBS2_uc003iyn.1_Intron|SORBS2_uc011cku.2_Intron|SORBS2_uc011ckv.2_Silent_p.F417F|SORBS2_uc003iyd.3_Intron|SORBS2_uc003iye.3_Intron|SORBS2_uc003iya.3_Intron|SORBS2_uc003iyb.3_Intron|SORBS2_uc003iyc.3_Intron|SORBS2_uc003iyf.3_Intron|SORBS2_uc003iyo.1_Intron	NM_021069	NP_066547	O94875	SRBS2_HUMAN	Homo sapiens sorbin and SH3 domain containing 2 (SORBS2), transcript variant 2, mRNA.	513						Z disc|actin cytoskeleton|nucleus|perinuclear region of cytoplasm	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		TCAGCTTTTCGAATTCGGAGA	0.572000														48			45		0	0	0.014410	0	0
SYNE1	23345	broad.mit.edu	37	6	152589264	152589264	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr6:152589264G>A	uc021zhb.1	-	97	18965	c.18742C>T	c.(18742-18744)Ctt>Ttt	p.L6248F	SYNE1_uc003qos.4_Missense_Mutation_p.L772F|SYNE1_uc003qot.4_Missense_Mutation_p.L6177F|SYNE1_uc003qou.4_Missense_Mutation_p.L6248F	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	6248					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ACTGAGCGAAGGAGACTCTTC	0.443000										HNSCC(10;0.0054)				5			43		0	0	0.014410	0	0
ACBD5	91452	broad.mit.edu	37	10	27499923	27499923	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr10:27499923G>A	uc001itr.1	-	8	1111	c.391C>T	c.(391-393)Cgt>Tgt	p.R131C	ACBD5_uc010qdm.2_Missense_Mutation_p.R340C|ACBD5_uc010qdn.2_Missense_Mutation_p.R233C|ACBD5_uc010qdo.2_Missense_Mutation_p.R165C|ACBD5_uc010qdp.2_Missense_Mutation_p.R342C|ACBD5_uc001ito.3_Missense_Mutation_p.R307C|ACBD5_uc001itp.3_Missense_Mutation_p.R233C|ACBD5_uc001itq.3_Missense_Mutation_p.R233C			Q5T8D3	ACBD5_HUMAN	Homo sapiens acyl-CoA binding domain containing 5 (ACBD5), transcript variant 3, non-coding RNA.	351					transport	integral to membrane|peroxisomal membrane	fatty-acyl-CoA binding	p.R307C(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						ATATCTTCACGAAATCCAGAA	0.418000														76			71		0	0	0.014410	0	0
CELSR3	1951	broad.mit.edu	37	3	48668507	48668507	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:48668507G>A	uc003cuf.1	-	44	11268	c.11268C>T	c.(11266-11268)atC>atT	p.I3756I	CELSR3_uc003cug.3_Silent_p.I330I|CELSR3_uc011bbp.2_Silent_p.I315I|CELSR3_uc010hke.3_Silent_p.I202I|CELSR3_uc003cuk.3_Silent_p.I244I|CELSR3_uc003cuh.3_Silent_p.I351I|CELSR3_uc003cui.3_Silent_p.I351I|CELSR3_uc003cuj.3_Silent_p.I351I	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 3 (flamingo homolog, Drosophila) (CELSR3), mRNA.	0					homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CAACCACAGCGATGGTGAAGG	0.612000														48			36		0	0	0.005524	0	0
FMR1NB	158521	broad.mit.edu	37	X	147088275	147088275	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:147088275C>T	uc004fcm.3	+	2	525	c.451C>T	c.(451-453)Ctt>Ttt	p.L151F		NM_152578	NP_689791	Q8N0W7	FMR1N_HUMAN	Homo sapiens fragile X mental retardation 1 neighbor (FMR1NB), mRNA.	151	P-type.					integral to membrane				breast(2)|cervix(1)|endometrium(3)|large_intestine(7)|lung(10)|ovary(1)|skin(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					GCTGCAAGATCTTAGTGAGAG	0.378000														146			69		0	0	0.014410	0	0
ARID2	196528	broad.mit.edu	37	12	46244715	46244715	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:46244715C>T	uc001ros.1	+	14	2809	c.2809C>T	c.(2809-2811)Caa>Taa	p.Q937*	ARID2_uc001ror.3_Nonsense_Mutation_p.Q937*|ARID2_uc009zkg.1_Nonsense_Mutation_p.Q393*|ARID2_uc009zkh.1_Nonsense_Mutation_p.Q564*|ARID2_uc001rou.1_Nonsense_Mutation_p.Q271*	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	Homo sapiens AT rich interactive domain 2 (ARID, RFX-like) (ARID2), mRNA.	937	Gln-rich.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		TCAACAAGGTCAAACTTATGC	0.468000			"""N, S, F"""		hepatocellular carcinoma									72			52		0	0	0.014410	0	0
PCDHB6	56130	broad.mit.edu	37	5	140531002	140531002	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:140531002C>T	uc003lir.3	+	0	1164	c.1164C>T	c.(1162-1164)ccC>ccT	p.P388P		NM_018939	NP_061762	Q9Y5E3	PCDB6_HUMAN	Homo sapiens protocadherin beta 6 (PCDHB6), mRNA.	388	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACAATCTCCCCTTTCTACTAA	0.458000														55			36		0	0	0.008740	0	0
KRT31	3881	broad.mit.edu	37	17	39553606	39553606	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr17:39553606G>A	uc002hwn.3	-	0	239	c.186C>T	c.(184-186)ttC>ttT	p.F62F	KRT31_uc010cxn.3_Silent_p.F62F	NM_002277	NP_002268	Q15323	K1H1_HUMAN	Homo sapiens keratin 31 (KRT31), mRNA.	62	Coil 1A.|Rod.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	31		Breast(137;0.000496)				GGTCGTTCAGGAACTGCATAG	0.622000														63			44		0	0	0.014410	0	0
STAB1	23166	broad.mit.edu	37	3	52537381	52537381	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:52537381C>T	uc003dej.3	+	7	790	c.716C>T	c.(715-717)tCa>tTa	p.S239L	STAB1_uc003dei.1_Missense_Mutation_p.S239L	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	Homo sapiens stabilin 1 (STAB1), mRNA.	239	EGF-like 4.				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		TGCTGGCCATCACCCTGCTCA	0.652000														10			12		0	0	0.001855	0	0
CLEC3B	7123	broad.mit.edu	37	3	45077305	45077305	+	Missense_Mutation	SNP	T	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:45077305T>A	uc003cok.4	+	2	594	c.498T>A	c.(496-498)gaT>gaA	p.D166E		NM_003278	NP_003269	P05452	TETN_HUMAN	Homo sapiens C-type lectin domain family 3, member B (CLEC3B), mRNA.	166	C-type lectin.				skeletal system development	extracellular space	protein binding|sugar binding			endometrium(1)|lung(3)	4				BRCA - Breast invasive adenocarcinoma(193;0.00863)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CGCAACCCGATGGCGGCAAGA	0.657000														28			19		0	0	0.012319	0	0
SUSD1	64420	broad.mit.edu	37	9	114804188	114804188	+	Missense_Mutation	SNP	A	C	C			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr9:114804188A>C	uc010mui.3	-	16	2308	c.2267T>G	c.(2266-2268)cTg>cGg	p.L756R	MIR3134_uc022bma.1_Intron|SUSD1_uc004bfu.3_Silent_p.A734A|SUSD1_uc010muj.3_Missense_Mutation_p.L721R			Q6UWL2	SUSD1_HUMAN	Homo sapiens sushi domain containing 1 (SUSD1), mRNA.	0						integral to membrane	calcium ion binding		SUSD1/ROD1(2)	central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						TGATCACAACAGCCAGGGAAC	0.532000														0			14		0	0	0.003163	0	0
PPARGC1A	10891	broad.mit.edu	37	4	23830060	23830060	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr4:23830060C>T	uc003gqs.3	-	4	840	c.720G>A	c.(718-720)aaG>aaA	p.K240K	PPARGC1A_uc003gqt.3_Non-coding_Transcript|PPARGC1A_uc011bxp.1_Non-coding_Transcript|PPARGC1A_uc010ier.1_Non-coding_Transcript	NM_013261	NP_037393	Q9UBK2	PRGC1_HUMAN	Homo sapiens peroxisome proliferator-activated receptor gamma, coactivator 1 alpha (PPARGC1A), mRNA.	240					RNA splicing|androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mRNA processing|mitochondrion organization|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	DNA binding|RNA binding|RNA polymerase II transcription cofactor activity|androgen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|transcription factor binding			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				TGTGGGACTTCTTTTTGGAGG	0.498000														58			54		0	0	0.014410	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43862493	43862493	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:43862493C>T	uc010skx.2	-	7	1133	c.1133G>A	c.(1132-1134)gGt>gAt	p.G378D		NM_025003	NP_079279	P59510	ATS20_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 20 (ADAMTS20), mRNA.	378	Peptidase M12B.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		ACATATGGTACCTAAATATGA	0.313000														40			35		0	0	0.004878	0	0
SP2	6668	broad.mit.edu	37	17	45994184	45994184	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr17:45994184G>A	uc002imk.3	+	2	884	c.747G>A	c.(745-747)aaG>aaA	p.K249K	SP2_uc002iml.3_Silent_p.K242K|BC038442_uc002imm.3_Intron	NM_003110	NP_003101	Q02086	SP2_HUMAN	Homo sapiens Sp2 transcription factor (SP2), mRNA.	249					immune response|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|histone deacetylase binding|zinc ion binding			endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	13						AAGCAAGGAAGAAGAGCCTTC	0.582000														43			49		0	0	0.014410	0	0
C1orf129	80133	broad.mit.edu	37	1	170941020	170941020	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:170941020G>A	uc010plz.2	+	7	766	c.612G>A	c.(610-612)caG>caA	p.Q204Q	C1orf129_uc001ghg.3_Silent_p.Q204Q|C1orf129_uc009wvy.3_Silent_p.Q11Q	NM_001163629	NP_001157101	Q5TGP6	CA129_HUMAN	Homo sapiens chromosome 1 open reading frame 129 (C1orf129), transcript variant 1, mRNA.	204							binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(16)|pancreas(1)|prostate(1)|skin(3)	45	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CACGGTGTCAGAACGGTAAGA	0.433000														14			256		0	0	0.014410	0	0
NAT9	26151	broad.mit.edu	37	17	72769761	72769761	+	Silent	SNP	C	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr17:72769761C>A	uc002jlq.3	-	2	218	c.144G>T	c.(142-144)ctG>ctT	p.L48L	NAT9_uc002jlr.3_Silent_p.L47L|TMEM104_uc010wrf.1_5'Flank|TMEM104_uc010wrg.1_5'Flank|TMEM104_uc002jls.4_5'Flank|TMEM104_uc010dfx.3_5'Flank	NM_015654	NP_056469	Q9BTE0	NAT9_HUMAN	Homo sapiens N-acetyltransferase 9 (GCN5-related, putative) (NAT9), mRNA.	48	N-acetyltransferase.					protein complex	N-acetyltransferase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)	8						ACTCCTGCTCCAGGGTCAGCG	0.607000														50			37		5.78141e-17	7.83625e-17	0.013114	1	0
TMCC1	23023	broad.mit.edu	37	3	129389208	129389208	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:129389208G>A	uc021xdy.1	-	3	1910	c.1476C>T	c.(1474-1476)tcC>tcT	p.S492S	TMCC1_uc003emy.4_Silent_p.S168S|TMCC1_uc011blc.2_Silent_p.S313S|TMCC1_uc010htg.3_Silent_p.S378S	NM_001017395	NP_001121696	O94876	TMCC1_HUMAN	Homo sapiens transmembrane and coiled-coil domain family 1 (TMCC1), transcript variant 1, mRNA.	492						integral to membrane			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						GCATTATTAAGGAATAGTCCC	0.433000														69			50		0	0	0.014410	0	0
ASPN	54829	broad.mit.edu	37	9	95227269	95227269	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr9:95227269C>T	uc004ase.2	-	4	944	c.644G>A	c.(643-645)gGg>gAg	p.G215E	CENPP_uc004arz.3_Intron|CENPP_uc010mqx.3_Intron|ASPN_uc010mqy.2_Missense_Mutation_p.G215E	NM_017680	NP_060150	Q9BXN1	ASPN_HUMAN	Homo sapiens asporin (ASPN), transcript variant 1, mRNA.	215					bone mineralization|negative regulation of tooth mineralization|negative regulation of transforming growth factor beta receptor signaling pathway	proteinaceous extracellular matrix	calcium ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	9						TTCAAATGCCCCTGGCTCTAT	0.398000														9			83		0	0	0.014410	0	0
INTS1	26173	broad.mit.edu	37	7	1513981	1513981	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:1513981G>A	uc003skn.2	-	40	5753	c.5652C>T	c.(5650-5652)atC>atT	p.I1884I		NM_001080453	NP_001073922	Q8N201	INT1_HUMAN	Homo sapiens integrator complex subunit 1 (INTS1), mRNA.	1884					snRNA processing	integral to membrane|integrator complex|nuclear membrane				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		GGAGCGCCGCGATCATGGGCA	0.726000														33			16		0	0	0.004990	0	0
ODZ2	57451	broad.mit.edu	37	5	167617455	167617455	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:167617455G>A	uc010jjd.3	+	13	2656	c.2656G>A	c.(2656-2658)Gat>Aat	p.D886N	ODZ2_uc003lzr.4_Missense_Mutation_p.D663N|ODZ2_uc003lzt.4_Missense_Mutation_p.D259N|ODZ2_uc010jje.3_Missense_Mutation_p.D157N	NM_001122679	NP_001116151			Homo sapiens odz, odd Oz/ten-m homolog 2 (Drosophila) (ODZ2), mRNA.											NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|lung(45)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(2)	122	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)		GGGCCAGACGGATTGGCCCGC	0.572000														11			11		0	0	0.002450	0	0
S100A8	6279	broad.mit.edu	37	1	153362683	153362684	+	Missense_Mutation	DNP	TA	GC	GC			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:153362683_153362684TA>GC	uc001fbs.3	-	2	347_348	c.177_178TA>GC	c.(175-180)gatatc>gaGCtc	p.59_60DI>EL		NM_002964	NP_002955	P05109	S10A8_HUMAN	Homo sapiens S100 calcium binding protein A8 (S100A8), mRNA.	59	EF-hand 2.				chemotaxis	cytoplasm|cytoskeleton|plasma membrane	calcium ion binding|protein binding			breast(1)|endometrium(1)|lung(1)|urinary_tract(1)	4	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			TCAGTGTTGATATCCAACTCTT	0.460000														182			44		0	0	0.004672	0	0
GRAMD2	196996	broad.mit.edu	37	15	72456035	72456035	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr15:72456035G>A	uc002atq.3	-	8	688	c.664C>T	c.(664-666)Cca>Tca	p.P222S	GRAMD2_uc010bis.2_Missense_Mutation_p.P222S|GRAMD2_uc010ukh.2_Missense_Mutation_p.P16S	NM_001012642	NP_001012660	Q8IUY3	GRAM2_HUMAN	Homo sapiens GRAM domain containing 2 (GRAMD2), mRNA.	222						integral to membrane				cervix(2)|endometrium(1)|large_intestine(4)|lung(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	13						ATGTTGTCTGGGAGAGACAGG	0.537000														20			14		0	0	0.003163	0	0
SLC6A14	11254	broad.mit.edu	37	X	115584228	115584228	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:115584228C>T	uc004eqi.3	+	8	1337	c.1206C>T	c.(1204-1206)ctC>ctT	p.L402L		NM_007231	NP_009162	Q9UN76	S6A14_HUMAN	Homo sapiens solute carrier family 6 (amino acid transporter), member 14 (SLC6A14), mRNA.	402					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)	TAGCCCAACTCCCAGGTGGTC	0.358000														38			39		0	0	0.007835	0	0
MATN2	4147	broad.mit.edu	37	8	99019805	99019805	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr8:99019805C>T	uc003yic.3	+	9	1780	c.1549C>T	c.(1549-1551)Cgc>Tgc	p.R517C	MATN2_uc010mbh.1_Missense_Mutation_p.R476C|MATN2_uc003yid.3_Missense_Mutation_p.R517C|MATN2_uc003yie.1_Missense_Mutation_p.R517C|MATN2_uc010mbi.1_Missense_Mutation_p.R350C	NM_002380	NP_002371	O00339	MATN2_HUMAN	Homo sapiens matrilin 2 (MATN2), transcript variant 1, mRNA.	517	EGF-like 7.					proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1)	31	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.244)			ACACGTGCTCCGCAGCGATGG	0.567000														37			28		0	0	0.005443	0	0
NAP1L2	4674	broad.mit.edu	37	X	72433197	72433197	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:72433197C>T	uc004ebi.3	-	0	1514	c.1132G>A	c.(1132-1134)Gga>Aga	p.G378R		NM_021963	NP_068798	Q9ULW6	NP1L2_HUMAN	Homo sapiens nucleosome assembly protein 1-like 2 (NAP1L2), mRNA.	378					nucleosome assembly	chromatin assembly complex				NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29	Renal(35;0.156)					GAGGTGATTCCATGAGGAGAG	0.353000														24			25		0	0	0.003330	0	0
HMG20A	10363	broad.mit.edu	37	15	77763375	77763375	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr15:77763375C>T	uc002bcr.3	+	5	775	c.574C>T	c.(574-576)Cat>Tat	p.H192Y	HMG20A_uc002bcs.3_Missense_Mutation_p.H192Y	NM_018200	NP_060670	Q9NP66	HM20A_HUMAN	Homo sapiens high mobility group 20A (HMG20A), mRNA.	192					chromatin modification	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18						AGGCAAATCTCATAGGCAAGG	0.408000														34			37		0	0	0.011902	0	0
C20orf166	128826	broad.mit.edu	37	20	61167705	61167705	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr20:61167705G>A	uc011aaj.2	+	3	954	c.175G>A	c.(175-177)Gaa>Aaa	p.E59K		NM_178463	NP_848558	Q9H1L0	CT166_HUMAN	Homo sapiens chromosome 20 open reading frame 166 (C20orf166), mRNA.	59										endometrium(1)|kidney(1)|lung(2)	4	Breast(26;1.04e-08)		BRCA - Breast invasive adenocarcinoma(19;7.17e-06)			TCATTTGAAAGAAATTCTTCT	0.478000														20			12		0	0	0.013537	0	0
CEACAM18	729767	broad.mit.edu	37	19	51984888	51984888	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:51984888G>A	uc002pwv.1	+	3	825	c.825G>A	c.(823-825)caG>caA	p.Q275Q		NM_001080405	NP_001073874	A8MTB9	CEA18_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 18 (CEACAM18), mRNA.	275						integral to membrane				breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1)	17		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		AGATCTTTCAGAGAAGTGAAC	0.522000														20			16		0	0	0.006122	0	0
OR52N4	390072	broad.mit.edu	37	11	5776411	5776411	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:5776411G>A	uc001mbu.3	+	0	489	c.441G>A	c.(439-441)ggG>ggA	p.G147G	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.2_Intron	NM_001005175	NP_001005175	Q8NGI2	O52N4_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily N, member 4 (OR52N4), mRNA.	147					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197)		CAAAGGTTGGGACTGCCACCT	0.493000														53			51		0	0	0.014410	0	0
IPO7	10527	broad.mit.edu	37	11	9446716	9446716	+	Silent	SNP	T	C	C			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:9446716T>C	uc001mho.3	+	11	1384	c.1242T>C	c.(1240-1242)ttT>ttC	p.F414F		NM_006391	NP_006382	O95373	IPO7_HUMAN	Homo sapiens importin 7 (IPO7), mRNA.	414					interspecies interaction between organisms|signal transduction	Golgi apparatus|nuclear pore|soluble fraction	Ran GTPase binding|protein transporter activity|small GTPase regulator activity			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)		CTATGGGATTTTGTTACCAGA	0.358000														56			38		0	0	0.007835	0	0
ADAM21P1	145241	broad.mit.edu	37	14	70713174	70713174	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr14:70713174C>T	uc010ttg.2	-	0	1345	c.694G>A	c.(694-696)Gaa>Aaa	p.E232K						Homo sapiens ADAM metallopeptidase domain 21 pseudogene 1 (ADAM21P1), non-coding RNA.																		ATAAAGATTTCCCCCAATCTT	0.458000														36			38		0	0	0.006999	0	0
SCN1A	6323	broad.mit.edu	37	2	166894574	166894574	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:166894574G>A	uc002udo.4	-	16	2885	c.2658C>T	c.(2656-2658)tcC>tcT	p.S886S	SCN1A_uc010fpk.3_Silent_p.S858S|SCN1A_uc021vsb.1_Silent_p.S875S	NM_001202435	NP_001189364	P35498	SCN1A_HUMAN	Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA.	886						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)	GAGCCCCCACGGAATTGCCGA	0.408000														42			31		0	0	0.007291	0	0
MYH15	22989	broad.mit.edu	37	3	108159925	108159925	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:108159925G>A	uc003dxa.1	-	23	2955	c.2898C>T	c.(2896-2898)atC>atT	p.I966I		NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN	Homo sapiens myosin, heavy chain 15 (MYH15), mRNA.	966						myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						CCAGGTCATCGATTTCTTTCT	0.458000														79			70		0	0	0.014410	0	0
BOLL	66037	broad.mit.edu	37	2	198640447	198640447	+	Silent	SNP	A	G	G			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:198640447A>G	uc002uuu.1	-	4	691	c.312T>C	c.(310-312)taT>taC	p.Y104Y	BOLL_uc002uur.2_Silent_p.Y104Y|BOLL_uc002uus.2_Silent_p.Y98Y|BOLL_uc002uut.2_Silent_p.Y110Y|BOLL_uc010zha.1_Intron	NM_033030	NP_149019	Q8N9W6	BOLL_HUMAN	Homo sapiens bol, boule-like (Drosophila) (BOLL), transcript variant 2, mRNA.	98	RRM.				cell differentiation|meiosis|multicellular organismal development|positive regulation of translational initiation|spermatogenesis	cytoplasm	RNA binding|nucleotide binding|protein binding|translation activator activity			central_nervous_system(1)|endometrium(2)|lung(6)|ovary(3)|prostate(1)	13						TCTTATCCTTATAATTAAGTT	0.249000														46			31		0	0	0.004289	0	0
FBXL13	222235	broad.mit.edu	37	7	102608513	102608513	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:102608513G>A	uc003vaq.2	-	6	974	c.547C>T	c.(547-549)Cat>Tat	p.H183Y	FBXL13_uc010liq.1_5'UTR|FBXL13_uc010lir.1_Missense_Mutation_p.H183Y|FBXL13_uc003var.2_Non-coding_Transcript|FBXL13_uc003vas.2_Missense_Mutation_p.H183Y|FBXL13_uc003vav.2_Non-coding_Transcript	NM_145032	NP_659469	Q8NEE6	FXL13_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 13 (FBXL13), transcript variant 1, mRNA.	183	F-box.									NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1)	27						ATCCAGGCATGATTAACTTGA	0.328000														29			40		0	0	0.011902	0	0
FCRLA	84824	broad.mit.edu	37	1	161683039	161683039	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:161683039C>T	uc001gbe.3	+	5	1260	c.1018C>T	c.(1018-1020)Ctg>Ttg	p.L340L	FCRLA_uc001gbg.3_Silent_p.L194L|FCRLA_uc009wup.3_Silent_p.L150L|FCRLA_uc009wuq.3_Silent_p.L99L|FCRLA_uc001gbd.3_Silent_p.L334L|FCRLA_uc001gbf.3_Silent_p.L245L|FCRLA_uc009wuo.3_Silent_p.L200L	NM_001184866	NP_001171795	Q7L513	FCRLA_HUMAN	Homo sapiens Fc receptor-like A (FCRLA), transcript variant 1, mRNA.	317					cell differentiation	cytoplasm|extracellular region				breast(1)|kidney(12)|large_intestine(4)|lung(13)|prostate(1)|skin(2)|stomach(1)	34	all_cancers(52;2.55e-15)|all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00301)			AGATCCTCATCTGTATCACCA	0.567000														3			114		0	0	0.014410	0	0
LIPC	3990	broad.mit.edu	37	15	58855711	58855711	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr15:58855711G>A	uc010bga.2	+	9	1785	c.1177G>A	c.(1177-1179)Gga>Aga	p.G393R	LIPC_uc010bfz.1_Missense_Mutation_p.G393R|LIPC_uc002afa.2_Missense_Mutation_p.G393R|LIPC_uc010bgb.1_Missense_Mutation_p.G291R|LIPC_uc010ugy.2_Missense_Mutation_p.G332R	NM_000236	NP_000227	P11150	LIPC_HUMAN	Homo sapiens lipase, hepatic (LIPC), mRNA.	393	PLAT.				cholesterol homeostasis|chylomicron remnant clearance|fatty acid biosynthetic process|high-density lipoprotein particle remodeling|intermediate-density lipoprotein particle remodeling|low-density lipoprotein particle remodeling|phosphatidylcholine catabolic process|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle	apolipoprotein binding|heparin binding|low-density lipoprotein particle binding|phospholipase activity|triglyceride lipase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Colorectal(260;0.215)		GBM - Glioblastoma multiforme(80;0.00213)|all cancers(107;0.00548)		AAGGGGCAAAGGAATTGCTAG	0.418000														18			14		0	0	0.004007	0	0
GPR63	81491	broad.mit.edu	37	6	97246852	97246852	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr6:97246852G>A	uc010kcl.3	-	2	1234	c.756C>T	c.(754-756)ttC>ttT	p.F252F	GPR63_uc003pou.3_Silent_p.F252F|GPR63_uc021zcy.1_Silent_p.F252F	NM_001143957	NP_001137429	Q9BZJ6	GPR63_HUMAN	Homo sapiens G protein-coupled receptor 63 (GPR63), transcript variant 1, mRNA.	252						integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			kidney(1)|large_intestine(5)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;6.89e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0618)|Colorectal(196;0.0721)		BRCA - Breast invasive adenocarcinoma(108;0.0912)		GGAAGGGTATGAAGAAAGAAA	0.463000														0			35		0	0	0.005524	0	0
LTN1	26046	broad.mit.edu	37	21	30365209	30365209	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr21:30365209G>A	uc002ymr.2	-	0	69	c.56C>T	c.(55-57)tCt>tTt	p.S19F		NM_015565	NP_056380	O94822	LTN1_HUMAN	Homo sapiens listerin E3 ubiquitin protein ligase 1 (LTN1), mRNA.	0							ligase activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						GGCGGCGGAAGAGGACACCCT	0.632000														5			9		0	0	0.004482	0	0
GPR112	139378	broad.mit.edu	37	X	135480048	135480048	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:135480048C>T	uc004ezu.1	+	19	8484	c.8193C>T	c.(8191-8193)tcC>tcT	p.S2731S	GPR112_uc010nsb.1_Silent_p.S2526S	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA.	2731	GPS.				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)					AGGATTTATCCAGGTCTACAG	0.418000														155			72		0	0	0.014410	0	0
WDR96	80217	broad.mit.edu	37	10	105926332	105926332	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr10:105926332C>T	uc001kxw.3	-	22	3069	c.2953G>A	c.(2953-2955)Gat>Aat	p.D985N	WDR96_uc009xxq.3_Missense_Mutation_p.D293N	NM_025145	NP_079421	Q8NDM7	WDR96_HUMAN	Homo sapiens WD repeat domain 96 (WDR96), mRNA.	985										NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						ACCCCAAAATCAGTACTCAGA	0.373000														28			35		0	0	0.003755	0	0
FAM135B	51059	broad.mit.edu	37	8	139164633	139164633	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr8:139164633G>A	uc003yuy.3	-	12	2256	c.2085C>T	c.(2083-2085)gtC>gtT	p.V695V	FAM135B_uc003yux.3_Silent_p.V596V|FAM135B_uc003yuz.3_Non-coding_Transcript|FAM135B_uc003yva.3_Silent_p.V257V|FAM135B_uc003yvb.3_Silent_p.V257V	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA.	695										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)			CTGACCAGGCGACGGAGCTTG	0.552000										HNSCC(54;0.14)				30			20		0	0	0.007413	0	0
C10orf71	118461	broad.mit.edu	37	10	50531107	50531107	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr10:50531107C>T	uc021pqb.1	+	0	517	c.517C>T	c.(517-519)Cct>Tct	p.P173S	C10orf71_uc021pqa.1_Missense_Mutation_p.P172S|C10orf71_uc021pqc.1_Missense_Mutation_p.P173S	NM_001135196	NP_001128668	Q711Q0	CJ071_HUMAN	Homo sapiens chromosome 10 open reading frame 71 (C10orf71), transcript variant 1, mRNA.	173										endometrium(1)	1						TCTGAAAAATCCTCCCAAATT	0.502000														23			18		0	0	0.004990	0	0
HLA-DMB	3109	broad.mit.edu	37	6	32905036	32905036	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr6:32905036G>A	uc003ocl.2	-	2	798	c.535C>T	c.(535-537)Cat>Tat	p.H179Y	HLA-DMB_uc003ock.2_5'Flank|HLA-DMB_uc010jud.2_Missense_Mutation_p.H48Y|HLA-DMB_uc010jue.2_Missense_Mutation_p.H48Y|HLA-DMB_uc010juf.2_Missense_Mutation_p.H48Y|HLA-DMB_uc003ocj.2_3'UTR|HLA-DMB_uc011dql.2_Missense_Mutation_p.H179Y	NM_002118	NP_002109	P28068	DMB_HUMAN	Homo sapiens major histocompatibility complex, class II, DM beta (HLA-DMB), mRNA.	179	Beta-2.|Ig-like C1-type.				T cell costimulation|T cell receptor signaling pathway|antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway	MHC class II protein complex|integral to membrane|late endosome membrane|lysosomal membrane				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13						AAGGCTAAATGGGAGAGGGTC	0.562000														50			31		0	0	0.009535	0	0
MERTK	10461	broad.mit.edu	37	2	112777019	112777019	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:112777019C>T	uc002thk.1	+	15	2231	c.2109C>T	c.(2107-2109)ttC>ttT	p.F703F	MERTK_uc002thl.1_Silent_p.F527F	NM_006343	NP_006334	Q12866	MERTK_HUMAN	Homo sapiens c-mer proto-oncogene tyrosine kinase (MERTK), mRNA.	703	Protein kinase.				cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						TATTGAAGTTCATGGTGGATA	0.423000														73			80		0	0	0.014410	0	0
HNF4G	3174	broad.mit.edu	37	8	76465357	76465357	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr8:76465357G>A	uc003yaq.3	+	5	699	c.429G>A	c.(427-429)atG>atA	p.M143I	HNF4G_uc003yar.3_Missense_Mutation_p.M180I	NM_004133	NP_004124	Q14541	HNF4G_HUMAN	Homo sapiens hepatocyte nuclear factor 4, gamma (HNF4G), mRNA.	143					endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	37	Breast(64;0.0448)		BRCA - Breast invasive adenocarcinoma(89;0.161)			GTGAATCTATGAAACAGCAGC	0.368000														45			38		0	0	0.005524	0	0
ZNF624	57547	broad.mit.edu	37	17	16526300	16526300	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr17:16526300G>A	uc010cpi.2	-	5	1992	c.1900C>T	c.(1900-1902)Cat>Tat	p.H634Y	ZNF624_uc021tre.1_Missense_Mutation_p.H508Y	NM_020787	NP_065838	Q9P2J8	ZN624_HUMAN	Homo sapiens zinc finger protein 624 (ZNF624), mRNA.	634					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	26				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		ACTCCAGTATGAATTTTCTGA	0.388000														96			62		0	0	0.014410	0	0
ABLIM2	84448	broad.mit.edu	37	4	7994616	7994616	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr4:7994616C>T	uc003gko.3	-	15	1698	c.1555G>A	c.(1555-1557)Gga>Aga	p.G519R	ABLIM2_uc003gkk.3_Intron|ABLIM2_uc003gkl.3_Missense_Mutation_p.G247R|ABLIM2_uc003gkm.4_Missense_Mutation_p.G467R|ABLIM2_uc003gkp.3_Intron|ABLIM2_uc003gkq.3_Intron|ABLIM2_uc003gkr.3_Intron|ABLIM2_uc003gkj.4_Missense_Mutation_p.G553R	NM_001130084	NP_001123556	Q6H8Q1	ABLM2_HUMAN	Homo sapiens actin binding LIM protein family, member 2 (ABLIM2), transcript variant 2, mRNA.	519					axon guidance|cytoskeleton organization	actin cytoskeleton|cytoplasm|intermediate filament cytoskeleton|nucleus	actin binding|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|pancreas(3)|prostate(2)|urinary_tract(1)	25						CCATTCTTTCCATGTCCTGGG	0.562000														18			7		0	0	0.003080	0	0
ZNF157	7712	broad.mit.edu	37	X	47272621	47272621	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:47272621G>A	uc004dhr.1	+	3	1218	c.1149G>A	c.(1147-1149)gaG>gaA	p.E383E		NM_003446	NP_003437	P51786	ZN157_HUMAN	Homo sapiens zinc finger protein 157 (ZNF157), mRNA.	383					negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.G382*(1)		central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						ACACAGGAGAGAAACCTTACG	0.428000														9			8		0	0	0.006214	0	0
DLG2	1740	broad.mit.edu	37	11	84996306	84996306	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:84996306G>A	uc001pak.2	-	3	456	c.144C>T	c.(142-144)tcC>tcT	p.S48S		NM_001142699	NP_001136171	Q15700	DLG2_HUMAN	Homo sapiens discs, large homolog 2 (Drosophila) (DLG2), transcript variant 1, mRNA.	0						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)				GAGCAAGAAGGGATGTCTTCT	0.373000														3			61		0	0	0.014410	0	0
FRAS1	80144	broad.mit.edu	37	4	79295332	79295332	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr4:79295332C>T	uc003hlb.2	+	24	3518	c.3078C>T	c.(3076-3078)ctC>ctT	p.L1026L	FRAS1_uc003hkw.3_Silent_p.L1026L	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	1025					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						GGCCATTTCTCCTCTTGGAAG	0.493000														53			55		0	0	0.014410	0	0
HSD11B2	3291	broad.mit.edu	37	16	67470517	67470517	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr16:67470517G>A	uc002etd.3	+	4	945	c.829G>A	c.(829-831)Gaa>Aaa	p.E277K		NM_000196	NP_000187	P80365	DHI2_HUMAN	Homo sapiens hydroxysteroid (11-beta) dehydrogenase 2 (HSD11B2), mRNA.	277					glucocorticoid biosynthetic process	endoplasmic reticulum|microsome				breast(1)|endometrium(1)|liver(2)|lung(3)|upper_aerodigestive_tract(1)	8		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0401)|Epithelial(162;0.0891)	NADH(DB00157)	GGGTCAGTGGGAAAAGCGCAA	0.567000														19			17		0	0	0.006122	0	0
MUC17	140453	broad.mit.edu	37	7	100681578	100681578	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:100681578C>T	uc003uxp.1	+	2	6934	c.6881C>T	c.(6880-6882)tCt>tTt	p.S2294F	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	2294	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GTGGCCAATTCTGAGGTTAGC	0.488000														137			234		0	0	0.014410	0	0
GDPD5	81544	broad.mit.edu	37	11	75152259	75152259	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:75152259G>A	uc001owo.4	-	14	1959	c.1422C>T	c.(1420-1422)acC>acT	p.T474T	GDPD5_uc001owp.4_Silent_p.T474T|GDPD5_uc001own.4_Silent_p.T229T|GDPD5_uc009yuc.3_Silent_p.T336T|GDPD5_uc009yud.3_Silent_p.T355T	NM_030792	NP_110419	Q8WTR4	GDPD5_HUMAN	Homo sapiens glycerophosphodiester phosphodiesterase domain containing 5 (GDPD5), mRNA.	474	GDPD.				glycerol metabolic process|lipid metabolic process|nervous system development	endomembrane system|growth cone|integral to membrane|perinuclear region of cytoplasm	glycerophosphodiester phosphodiesterase activity	p.V473I(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|skin(2)	20						AGTTGTCAGAGGTGACGGATG	0.642000														19			7		0	0	0.001984	0	0
HCN4	10021	broad.mit.edu	37	15	73635981	73635981	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr15:73635981G>A	uc002avp.3	-	1	1948	c.954C>T	c.(952-954)atC>atT	p.I318I		NM_005477	NP_005468	Q9Y3Q4	HCN4_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 4 (HCN4), mRNA.	318					blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		CCTCCACCACGATCCCTGTGC	0.493000														15			14		0	0	0.002450	0	0
CCDC141	285025	broad.mit.edu	37	2	179732790	179732790	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:179732790G>A	uc002une.2	-	15	2655	c.2537C>T	c.(2536-2538)tCc>tTc	p.S846F	CCDC141_uc002unf.1_Missense_Mutation_p.S325F	NM_173648	NP_775919	Q6ZP82	CC141_HUMAN	Homo sapiens coiled-coil domain containing 141 (CCDC141), mRNA.	271	Ig-like.						protein binding	p.S846F(1)|p.S271F(1)		NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			GACTCCTAAGGAAAGGGCCAG	0.512000														29			31		0	0	0.003755	0	0
TTN	7273	broad.mit.edu	37	2	179554265	179554265	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:179554265C>T	uc021vsy.1	-	119	28397	c.28172G>A	c.(28171-28173)aGa>aAa	p.R9391K	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.R6052K|TTN_uc010fre.1_Missense_Mutation_p.R502K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	10318	Ig-like 77.						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)			AGATTCCTCTCTTTGAGTTAC	0.358000														14			8		0	0	0.008291	0	0
DPF3	8110	broad.mit.edu	37	14	73198523	73198523	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr14:73198523C>T	uc001xnc.2	-	3	434	c.421G>A	c.(421-423)Gaa>Aaa	p.E141K	DPF3_uc001xnf.2_Non-coding_Transcript|DPF3_uc010ari.1_Missense_Mutation_p.E141K|DPF3_uc010ttq.1_Missense_Mutation_p.E151K	NM_012074	NP_036206	Q92784	DPF3_HUMAN	Homo sapiens D4, zinc and double PHD fingers, family 3 (DPF3), mRNA.	141					chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nBAF complex	nucleic acid binding|zinc ion binding	p.I141V(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)	22				BRCA - Breast invasive adenocarcinoma(234;0.00649)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		ACCTGTATTTCCTGGATGCTT	0.592000														4			9		0	0	0.008291	0	0
NF1	4763	broad.mit.edu	37	17	29592318	29592318	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr17:29592318C>T	uc002hgg.3	+	35	5179	c.4796C>T	c.(4795-4797)tCc>tTc	p.S1599F	NF1_uc002hgh.3_Missense_Mutation_p.S1578F|NF1_uc002hgi.1_Missense_Mutation_p.S611F|NF1_uc010cso.3_5'UTR	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	1599	CRAL-TRIO.				MAPKKK cascade|Ras protein signal transduction|actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|metanephros development|myelination in peripheral nervous system|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	Ras GTPase activator activity|protein binding	p.0?(8)|p.?(4)|p.T1598fs*26(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		GCTGGGACTTCCAAAGCTGGG	0.313000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				32			31		0	0	0.006999	0	0
DRGX	644168	broad.mit.edu	37	10	50594888	50594888	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr10:50594888C>T	uc010qgq.2	-	3	266	c.266G>A	c.(265-267)aGa>aAa	p.R89K	DRGX_uc021pqd.1_Missense_Mutation_p.R84K	NM_001080520	NP_001073989	C9JW76	C9JW76_HUMAN	Homo sapiens dorsal root ganglia homeobox (DRGX), mRNA.	89					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)	11						TTTGGCCCTTCTGTTCTGGAA	0.547000														97			93		0	0	0.014410	0	0
AK300121	0	broad.mit.edu	37	12	52648149	52648149	+	Splice_Site	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:52648149C>T	uc010snr.1	-	4	484	c.136_splice	c.e4-1	p.D46_splice	KRT86_uc010snq.2_Intron					SubName: Full=cDNA FLJ60029, highly similar to Keratin, type II cuticular Hb3;																		AGTCCACATCCTAAAGGGGAG	0.562000														18			15		0	0	0.004007	0	0
SETD1A	9739	broad.mit.edu	37	16	30976205	30976205	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr16:30976205C>T	uc002ead.1	+	6	1828	c.1142C>T	c.(1141-1143)tCc>tTc	p.S381F		NM_014712	NP_055527	O15047	SET1A_HUMAN	Homo sapiens SET domain containing 1A (SETD1A), mRNA.	381					regulation of transcription, DNA-dependent|transcription, DNA-dependent	Set1C/COMPASS complex|chromosome|nuclear speck	RNA binding|histone-lysine N-methyltransferase activity|nucleotide binding|protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						CGCCATACTTCCTACCCACCA	0.557000														119			77		0	0	0.014410	0	0
CDHR5	53841	broad.mit.edu	37	11	618892	618892	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:618892C>T	uc001lql.3	-	12	1934	c.1667G>A	c.(1666-1668)gGa>gAa	p.G556E	IRF7_uc001lqh.3_5'Flank|IRF7_uc001lqi.3_5'Flank|IRF7_uc010qwh.2_5'Flank|CDHR5_uc001lqj.3_Missense_Mutation_p.G556E|CDHR5_uc009ycd.3_Missense_Mutation_p.G550E|CDHR5_uc001lqk.3_Intron|CDHR5_uc009ycc.3_Missense_Mutation_p.G390E	NM_021924	NP_068743	Q9HBB8	CDHR5_HUMAN	Homo sapiens cadherin-related family member 5 (CDHR5), transcript variant 1, mRNA.	556	4 X 31 AA approximate tandem repeats.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	23						GGTGCTGGTTCCCACACCGGG	0.652000														42			41		0	0	0.013114	0	0
TGM3	7053	broad.mit.edu	37	20	2291059	2291059	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr20:2291059G>A	uc002wfx.4	+	2	514	c.417G>A	c.(415-417)ctG>ctA	p.L139L		NM_003245	NP_003236	Q08188	TGM3_HUMAN	Homo sapiens transglutaminase 3 (E polypeptide, protein-glutamine-gamma-glutamyltransferase) (TGM3), mRNA.	139					cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	GDP binding|GTP binding|GTPase activity|acyltransferase activity|calcium ion binding|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39					L-Glutamine(DB00130)	ACCCCTGGCTGAATGGTAGGT	0.512000														83			83		0	0	0.014410	0	0
TTYH2	94015	broad.mit.edu	37	17	72249960	72249960	+	Silent	SNP	C	T	T	rs144976577		TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr17:72249960C>T	uc002jkc.3	+	12	1543	c.1512C>T	c.(1510-1512)tcC>tcT	p.S504S	TTYH2_uc010wqw.2_Silent_p.S483S|TTYH2_uc002jkd.3_Silent_p.S183S	NM_032646	NP_116035	Q9BSA4	TTYH2_HUMAN	Homo sapiens tweety homolog 2 (Drosophila) (TTYH2), transcript variant 1, mRNA.	504						chloride channel complex|plasma membrane	chloride channel activity|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(14)|ovary(3)|pancreas(1)|stomach(3)|upper_aerodigestive_tract(1)	36						GGAGAGCCTCCCCTCCGCCTA	0.562000														29			24		0	0	0.006320	0	0
B3GALTL	145173	broad.mit.edu	37	13	31850896	31850896	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr13:31850896C>T	uc010aaz.3	+	9	948	c.838C>T	c.(838-840)Cat>Tat	p.H280Y	B3GALTL_uc001utn.4_Non-coding_Transcript	NM_194318	NP_919299	Q6Y288	B3GLT_HUMAN	Homo sapiens beta 1,3-galactosyltransferase-like (B3GALTL), mRNA.	280					fucose metabolic process	endoplasmic reticulum membrane|integral to membrane	transferase activity, transferring glycosyl groups			breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Lung SC(185;0.0257)		all cancers(112;0.00436)|Epithelial(112;0.0285)|OV - Ovarian serous cystadenocarcinoma(117;0.0512)|GBM - Glioblastoma multiforme(144;0.184)		CAAGAAATTTCATGGTGACAG	0.313000														30			34		0	0	0.003755	0	0
ZNF423	23090	broad.mit.edu	37	16	49672585	49672585	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr16:49672585G>A	uc002efs.3	-	4	776	c.478C>T	c.(478-480)Cac>Tac	p.H160Y	ZNF423_uc010vgn.2_Missense_Mutation_p.H43Y	NM_015069	NP_055884	Q2M1K9	ZN423_HUMAN	Homo sapiens zinc finger protein 423 (ZNF423), mRNA.	160					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				TTGTCGCTGTGGATCTGCTCG	0.597000														27			22		0	0	0.003330	0	0
ABCA11P	79963	broad.mit.edu	37	4	436612	436612	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr4:436612C>T	uc003gaf.4	-	2	1966	c.1740G>A	c.(1738-1740)agG>agA	p.R580R	ABCA11P_uc003gac.2_Intron|ABCA11P_uc003gad.2_Intron|ABCA11P_uc011buv.2_Intron|ABCA11P_uc003gae.3_Intron|ABCA11P_uc010ibd.2_Intron|ABCA11P_uc003gag.3_Silent_p.R548R|ABCA11P_uc010ibe.3_Silent_p.R536R	NM_133474	NP_597731			Homo sapiens zinc finger protein 721 (ZNF721), mRNA.																		TATGAATTCTCCTATGTACAT	0.408000														74			58		0	0	0.014410	0	0
THSD7A	221981	broad.mit.edu	37	7	11485733	11485733	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:11485733C>T	uc021zzo.1	-	12	3271	c.3019G>A	c.(3019-3021)Gat>Aat	p.D1007N	THSD7A_uc021zzn.1_Missense_Mutation_p.D1007N	NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN	Homo sapiens thrombospondin, type I, domain containing 7A (THSD7A), mRNA.	1007	TSP type-1 10.					integral to membrane		p.Y1006Y(1)		NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		CCATTTTGATCGTAGCATGCC	0.423000										HNSCC(18;0.044)				194			73		0	0	0.014410	0	0
TACC2	10579	broad.mit.edu	37	10	123842253	123842254	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr10:123842253_123842254CC>TT	uc001lfv.3	+	3	598_599	c.238_239CC>TT	c.(238-240)cca>TTa	p.P80L	TACC2_uc001lfw.3_Intron|TACC2_uc009xzx.3_Missense_Mutation_p.P80L|TACC2_uc010qtv.2_Missense_Mutation_p.P80L	NM_206862	NP_996744	O95359	TACC2_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA.	80						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)				GGTGACTGAGCCAAGGAAGGAC	0.609000														42			34		0	0	0.004672	0	0
THOC6	79228	broad.mit.edu	37	16	3077227	3077227	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr16:3077227C>T	uc002ctb.2	+	10	1052	c.756C>T	c.(754-756)acC>acT	p.T252T	HCFC1R1_uc002csx.1_5'Flank|HCFC1R1_uc002csy.1_5'Flank|HCFC1R1_uc002csz.1_5'Flank|THOC6_uc002ctd.2_Silent_p.T252T|THOC6_uc002cta.2_Silent_p.T228T	NM_024339	NP_077315	Q86W42	THOC6_HUMAN	Homo sapiens THO complex 6 homolog (Drosophila) (THOC6), transcript variant 1, mRNA.	252					RNA splicing|intronless viral mRNA export from host nucleus|mRNA processing	THO complex part of transcription export complex	RNA binding			central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	13						CCACACCCACCACCATCTTCC	0.637000														34			26		0	0	0.005443	0	0
ZNF527	84503	broad.mit.edu	37	19	37870132	37870132	+	Missense_Mutation	SNP	G	C	C			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:37870132G>C	uc010efk.1	+	2	255	c.144G>C	c.(142-144)agG>agC	p.R48S	ZNF527_uc002ogf.3_Missense_Mutation_p.R48S|ZNF527_uc010xtq.1_Non-coding_Transcript|ZNF527_uc002oge.3_Missense_Mutation_p.R48S	NM_032453	NP_115829	Q8NB42	ZN527_HUMAN	Homo sapiens zinc finger protein 527 (ZNF527), mRNA.	48	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	33			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AGAACTACAGGAACTTGGTAT	0.428000														46			35		0	0	0.014410	0	0
CARKD	55739	broad.mit.edu	37	13	111277558	111277558	+	Missense_Mutation	SNP	T	C	C			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr13:111277558T>C	uc001vrc.3	+	3	410	c.319T>C	c.(319-321)Ttc>Ctc	p.F107L	CARKD_uc010tji.2_Intron|CARKD_uc010tjj.2_Missense_Mutation_p.F89L|CARKD_uc001vqz.3_Non-coding_Transcript|CARKD_uc001vra.3_Intron|CARKD_uc010tjk.2_Intron|CARKD_uc010tjl.2_Intron|CARKD_uc001vrb.3_Missense_Mutation_p.F107L	NM_018210	NP_060680	Q8IW45	CARKD_HUMAN	Homo sapiens carbohydrate kinase domain containing (CARKD), transcript variant 1, mRNA.	107	YjeF C-terminal.									NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)	15						GTCCCACGTGTTCTGTGCCAG	0.642000														25			16		0	0	0.006122	0	0
CA4	762	broad.mit.edu	37	17	58235480	58235480	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr17:58235480C>T	uc002iym.4	+	5	666	c.572C>T	c.(571-573)cCc>cTc	p.P191L	CA4_uc010wou.2_Non-coding_Transcript	NM_000717	NP_000708	P22748	CAH4_HUMAN	Homo sapiens carbonic anhydrase IV (CA4), mRNA.	191					bicarbonate transport|one-carbon metabolic process	ER-Golgi intermediate compartment|anchored to external side of plasma membrane|apical plasma membrane|brush border membrane|membrane fraction|perinuclear region of cytoplasm|rough endoplasmic reticulum|secretory granule membrane|trans-Golgi network|transport vesicle membrane	carbonate dehydratase activity|protein binding|zinc ion binding			kidney(1)|large_intestine(2)|lung(5)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.83e-12)|all cancers(12;6.83e-11)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021)	TCTAATATCCCCAAACCTGGT	0.612000														12			11		0	0	0.003163	0	0
FREM1	158326	broad.mit.edu	37	9	14859410	14859410	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr9:14859410G>A	uc003zlm.3	-	4	1218	c.402C>T	c.(400-402)atC>atT	p.I134I	FREM1_uc010mic.3_Non-coding_Transcript	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	Homo sapiens FRAS1 related extracellular matrix 1 (FREM1), transcript variant 1, mRNA.	134					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		TCATATGGATGATGTTACAGT	0.408000														95			64		0	0	0.014410	0	0
KIAA1217	56243	broad.mit.edu	37	10	24809118	24809118	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr10:24809118G>A	uc001iru.4	+	10	2647	c.2244G>A	c.(2242-2244)ctG>ctA	p.L748L	KIAA1217_uc001irs.3_Silent_p.L668L|KIAA1217_uc001irt.4_Silent_p.L713L|KIAA1217_uc010qcy.2_Silent_p.L713L|KIAA1217_uc010qcz.2_Silent_p.L713L|KIAA1217_uc001irv.1_Silent_p.L563L|KIAA1217_uc010qda.1_Intron|KIAA1217_uc001irw.3_Silent_p.L431L|KIAA1217_uc001irz.3_Silent_p.L431L|KIAA1217_uc001irx.3_Silent_p.L431L|KIAA1217_uc001iry.3_Silent_p.L431L	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA.	748					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						TGGTTACTCTGAAAGACGTGG	0.552000														92			75		0	0	0.014410	0	0
NUP160	23279	broad.mit.edu	37	11	47833673	47833673	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:47833673G>A	uc001ngm.3	-	16	2269	c.2184C>T	c.(2182-2184)ttC>ttT	p.F728F	NUP160_uc009ylw.3_Non-coding_Transcript|NUP160_uc021qiu.1_Silent_p.F728F	NM_015231	NP_056046	Q12769	NU160_HUMAN	Homo sapiens nucleoporin 160kDa (NUP160), mRNA.	728					carbohydrate metabolic process|glucose transport|mRNA export from nucleus|mitotic prometaphase|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	Nup107-160 complex|cytosol	nucleocytoplasmic transporter activity|protein binding	p.R727C(1)		NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2)	53						TGCAGATCAGGAAACGAGTAC	0.418000														20			17		0	0	0.006122	0	0
SPANXC	64663	broad.mit.edu	37	X	140335767	140335767	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:140335767C>T	uc004fbk.3	-	1	233	c.177G>A	c.(175-177)gtG>gtA	p.V59V	SPANXC_uc004fbl.3_Non-coding_Transcript	NM_022661	NP_073152	Q9NY87	SPNXC_HUMAN	Homo sapiens SPANX family, member C (SPANXC), mRNA.	59			V -> F.|V -> L (in dbSNP:rs16993705).			cytoplasm|nucleus				large_intestine(2)|lung(3)|pancreas(1)	6	Acute lymphoblastic leukemia(192;7.65e-05)					ATGTTCTTTTCACGTTCCTCC	0.498000														251			188		0	0	0.014410	0	0
DYNC2H1	79659	broad.mit.edu	37	11	103086451	103086451	+	Splice_Site	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:103086451C>T	uc001phn.1	+	55	8839	c.8695_splice	c.e55-1	p.A2899_splice	DYNC2H1_uc009yxe.1_Intron|DYNC2H1_uc001pho.2_Splice_Site_p.A2899_splice	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN	Homo sapiens dynein, cytoplasmic 2, heavy chain 1 (DYNC2H1), transcript variant 2, mRNA.	2899	Stalk (By similarity).				Golgi organization|cell projection organization|microtubule-based movement|multicellular organismal development	Golgi apparatus|cilium axoneme|dynein complex|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		TTGATGTAGGCTGGTGTATCT	0.328000														0			8		0	0	0.008291	0	0
ARHGAP5	394	broad.mit.edu	37	14	32560773	32560773	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr14:32560773C>T	uc001wrl.3	+	1	1137	c.898C>T	c.(898-900)Cat>Tat	p.H300Y	ARHGAP5_uc001wrm.3_Missense_Mutation_p.H300Y|ARHGAP5_uc001wrn.3_Missense_Mutation_p.H300Y|ARHGAP5_uc001wro.3_Intron|ARHGAP5_uc001wrp.3_Intron	NM_001173	NP_001025226	Q13017	RHG05_HUMAN	Homo sapiens Rho GTPase activating protein 5 (ARHGAP5), transcript variant 2, mRNA.	300	FF 1.				Rho protein signal transduction|cell adhesion	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding	p.H300Y(2)		NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		ATTAAAAAATCATCCTGATTA	0.313000														87			49		0	0	0.014410	0	0
CEP112	201134	broad.mit.edu	37	17	63847922	63847922	+	Splice_Site	SNP	C	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr17:63847922C>A	uc002jfl.3	-	21	2613	c.2394_splice	c.e21+1	p.K798_splice	CEP112_uc010deo.3_Splice_Site_p.K540_splice|CEP112_uc002jfm.3_Splice_Site_p.K798_splice|CEP112_uc010dep.2_Splice_Site_p.K756_splice	NM_145036	NP_659473	Q8N8E3	CE112_HUMAN	Homo sapiens centrosomal protein 112kDa (CEP112), transcript variant 1, mRNA.	798						centrosome				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(11)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	28						AATATCTTACCTTTTCCAGTG	0.353000														68			44		4.10826e-27	5.58655e-27	0.014410	1	0
CILP2	148113	broad.mit.edu	37	19	19655605	19655605	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:19655605C>T	uc002nmw.4	+	7	2354	c.2269C>T	c.(2269-2271)Ccc>Tcc	p.P757S	CILP2_uc002nmv.4_Missense_Mutation_p.P751S	NM_153221	NP_694953	Q8IUL8	CILP2_HUMAN	Homo sapiens cartilage intermediate layer protein 2 (CILP2), mRNA.	751						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						CAAGTTCACCCCCAGCGAGCA	0.687000														14			5		0	0	0.001168	0	0
LAMB2	3913	broad.mit.edu	37	3	49162711	49162711	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:49162711G>A	uc003cwe.3	-	18	2994	c.2695C>T	c.(2695-2697)Cac>Tac	p.H899Y	LAMB2_uc003cwf.1_Missense_Mutation_p.H899Y	NM_002292	NP_002283	P55268	LAMB2_HUMAN	Homo sapiens laminin, beta 2 (laminin S) (LAMB2), mRNA.	899	Laminin EGF-like 8.				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CCCCCTGTGTGATCACGGCAG	0.592000														87			60		0	0	0.014410	0	0
COL5A3	50509	broad.mit.edu	37	19	10078597	10078597	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:10078597C>T	uc002mmq.1	-	60	4473	c.4387G>A	c.(4387-4389)Ggc>Agc	p.G1463S		NM_015719	NP_056534	P25940	CO5A3_HUMAN	Homo sapiens collagen, type V, alpha 3 (COL5A3), mRNA.	1463	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			CCTTTTGAGCCTTTCTGTCCT	0.587000														47			35		0	0	0.004878	0	0
SKOR1	390598	broad.mit.edu	37	15	68125544	68125544	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr15:68125544G>A	uc002aqy.1	+	8	2620	c.2620G>A	c.(2620-2622)Gaa>Aaa	p.E874K		NM_001031807	NP_001026977	P84550	SKOR1_HUMAN	Homo sapiens SKI family transcriptional corepressor 1 (SKOR1), mRNA.	918					negative regulation of BMP signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	cytoplasm|dendrite|neuronal cell body|nucleus	SMAD binding|nucleotide binding|transcription repressor activity			endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(7)|urinary_tract(1)	23						CCTGTGTAACGAACTCGACCA	0.622000														24			18		0	0	0.010504	0	0
ZNF44	51710	broad.mit.edu	37	19	12385791	12385791	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:12385791G>A	uc010xmj.2	-	3	537	c.332C>T	c.(331-333)cCa>cTa	p.P111L	ZNF44_uc002mtl.3_Non-coding_Transcript|ZNF44_uc010xmi.2_Non-coding_Transcript|ZNF44_uc002mtn.4_Non-coding_Transcript|ZNF44_uc010dys.3_Missense_Mutation_p.P63L	NM_001164276	NP_001157748	P15621	ZNF44_HUMAN	Homo sapiens zinc finger protein 44 (ZNF44), transcript variant 1, mRNA.	111	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleus	DNA binding|protein binding|zinc ion binding			ovary(1)	1		Renal(1328;0.157)		GBM - Glioblastoma multiforme(1328;0.0164)|Lung(535;0.179)		AAATTACCTTGGATTTCTCCT	0.343000														19			13		0	0	0.004007	0	0
ZBTB41	360023	broad.mit.edu	37	1	197159928	197159928	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:197159928G>A	uc001gtx.1	-	2	1431	c.1362C>T	c.(1360-1362)tcC>tcT	p.S454S	ZBTB41_uc009wyz.1_Non-coding_Transcript	NM_194314	NP_919290	Q5SVQ8	ZBT41_HUMAN	Homo sapiens zinc finger and BTB domain containing 41 (ZBTB41), mRNA.	454					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(11)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	40						TCTTCTTAATGGAAATAAATT	0.279000														0			29		0	0	0.012213	0	0
SPHKAP	80309	broad.mit.edu	37	2	228884573	228884573	+	Missense_Mutation	SNP	C	T	T	rs148914025		TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:228884573C>T	uc002vpq.2	-	6	1044	c.997G>A	c.(997-999)Gaa>Aaa	p.E333K	SPHKAP_uc002vpp.2_Missense_Mutation_p.E333K|SPHKAP_uc010zlx.1_Missense_Mutation_p.E333K	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	333						cytoplasm	protein binding	p.E333K(2)		NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TGTGATTTTTCCATTTGACCT	0.428000														77			45		0	0	0.009718	0	0
ZNF273	10793	broad.mit.edu	37	7	64389038	64389038	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:64389038C>T	uc003tto.3	+	3	1408	c.1332C>T	c.(1330-1332)acC>acT	p.T444T	ZNF273_uc003ttl.3_Silent_p.T379T|ZNF273_uc003ttn.3_Silent_p.T379T	NM_021148	NP_066971	Q14593	ZN273_HUMAN	Homo sapiens zinc finger protein 273 (ZNF273), transcript variant 1, mRNA.	444					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Lung NSC(55;0.0295)|all_lung(88;0.0691)				TATTCTCAACCCTTACTAAAC	0.348000														50			23		0	0	0.002780	0	0
MAPK14	1432	broad.mit.edu	37	6	36043686	36043686	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr6:36043686G>A	uc003olq.3	+	6	1038	c.557G>A	c.(556-558)aGg>aAg	p.R186K	MAPK14_uc011dth.2_Missense_Mutation_p.R186K|MAPK14_uc003olo.3_Missense_Mutation_p.R186K|MAPK14_uc003olp.3_Missense_Mutation_p.R186K|MAPK14_uc003olr.3_Missense_Mutation_p.R186K|MAPK14_uc011dti.2_Missense_Mutation_p.R109K	NM_139012	NP_620581	Q16539	MK14_HUMAN	Homo sapiens mitogen-activated protein kinase 14 (MAPK14), transcript variant 2, mRNA.	186	Protein kinase.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Ras protein signal transduction|Toll signaling pathway|activation of MAPK activity|cellular component movement|cellular response to ionizing radiation|chemotaxis|innate immune response|mRNA metabolic process|muscle cell differentiation|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of muscle cell differentiation|positive regulation of reactive oxygen species metabolic process|regulation of sequence-specific DNA binding transcription factor activity|signal transduction in response to DNA damage|stress-activated MAPK cascade|stress-induced premature senescence|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase activity|MAP kinase kinase activity|protein binding			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|stomach(1)	16						GTGGCCACTAGGTGGTACAGG	0.463000														66			26		0	0	0.010818	0	0
DNAJA2	10294	broad.mit.edu	37	16	46991110	46991110	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr16:46991110G>A	uc002eeo.2	-	8	1212	c.1070C>T	c.(1069-1071)tCt>tTt	p.S357F		NM_005880	NP_005871	O60884	DNJA2_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily A, member 2 (DNAJA2), mRNA.	357					positive regulation of cell proliferation|protein folding|response to heat	membrane	ATP binding|heat shock protein binding|metal ion binding|unfolded protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	14		all_cancers(37;0.00125)|all_lung(18;0.00338)|all_epithelial(9;0.00358)|Lung NSC(13;0.0309)|Breast(268;0.116)				TTCCGGTCTAGATGGCAGAAG	0.413000														114			110		0	0	0.014410	0	0
PNMA3	29944	broad.mit.edu	37	X	152226667	152226667	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:152226667G>A	uc022cho.1	+	0	1255	c.1255G>A	c.(1255-1257)Gaa>Aaa	p.E419K	PNMA3_uc004fhc.2_Missense_Mutation_p.E419K|PNMA3_uc004fhd.3_5'Flank	NM_013364	NP_037496	Q9UL41	PNMA3_HUMAN	Homo sapiens paraneoplastic antigen MA3 (PNMA3), mRNA.	419					apoptosis	nucleolus	nucleic acid binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	16	Acute lymphoblastic leukemia(192;6.56e-05)					TAGCTGTGGGGAAGACGGCCA	0.582000														97			57		0	0	0.014410	0	0
ZFX	7543	broad.mit.edu	37	X	24226484	24226484	+	Missense_Mutation	SNP	T	C	C			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:24226484T>C	uc011mjv.2	+	7	1456	c.1207T>C	c.(1207-1209)Tat>Cat	p.Y403H	ZFX_uc004dbd.2_Missense_Mutation_p.Y364H|ZFX_uc004dbf.3_Missense_Mutation_p.Y364H|ZFX_uc004dbe.3_Missense_Mutation_p.Y364H|ZFX_uc022bua.1_Missense_Mutation_p.Y364H|ZFX_uc010nfx.2_Missense_Mutation_p.Y135H|ZFX_uc010nfy.1_Intron|ZFX_uc010nfz.3_Missense_Mutation_p.Y67H	NM_001178086	NP_001171557	P17010	ZFX_HUMAN	Homo sapiens zinc finger protein, X-linked (ZFX), transcript variant 4, mRNA.	364					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						GGCAGCAGCTTATGGTAAGTT	0.483000														41			28		0	0	0.008361	0	0
MUC16	94025	broad.mit.edu	37	19	9047536	9047536	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:9047536G>A	uc002mkp.3	-	4	34299	c.34095C>T	c.(34093-34095)acC>acT	p.T11365T		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	11367	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						AATAATTAGGGGTTGTCCTGG	0.493000														100			79		0	0	0.014410	0	0
ZNF711	7552	broad.mit.edu	37	X	84526400	84526400	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:84526400C>T	uc004eeq.3	+	9	2876	c.1990C>T	c.(1990-1992)Cct>Tct	p.P664S	ZNF711_uc004eep.3_Missense_Mutation_p.P618S|ZNF711_uc004eeo.3_Missense_Mutation_p.P618S|ZNF711_uc011mqy.1_Missense_Mutation_p.P217S	NM_021998	NP_068838	Q9Y462	ZN711_HUMAN	Homo sapiens zinc finger protein 711 (ZNF711), mRNA.	618					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						TAAGGATTTTCCTCACAAATG	0.423000														16			13		0	0	0.001855	0	0
PLEK	5341	broad.mit.edu	37	2	68621295	68621295	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:68621295G>A	uc002sen.4	+	7	1065	c.903G>A	c.(901-903)gaG>gaA	p.E301E	PLEK_uc010fde.3_3'UTR	NM_002664	NP_002655	P08567	PLEK_HUMAN	Homo sapiens pleckstrin (PLEK), mRNA.	301	PH 2.				actin cytoskeleton reorganization|cortical actin cytoskeleton organization|hemopoietic progenitor cell differentiation|inhibition of phospholipase C activity involved in G-protein coupled receptor signaling pathway|integrin-mediated signaling pathway|negative regulation of calcium-mediated signaling|negative regulation of inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|platelet aggregation|positive regulation of actin filament bundle assembly|positive regulation of actin filament depolymerization|positive regulation of inositol-polyphosphate 5-phosphatase activity|positive regulation of integrin activation|positive regulation of platelet activation|protein kinase C signaling cascade|protein secretion by platelet|regulation of cell diameter|ruffle organization|thrombin receptor signaling pathway|vesicle docking involved in exocytosis	cytosol|extracellular region|membrane fraction|ruffle membrane|soluble fraction	phosphatidylinositol-3,4-bisphosphate binding|protein homodimerization activity|protein kinase C binding			autonomic_ganglia(1)|endometrium(3)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	24		Ovarian(717;0.0129)		STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419)		CTTCAGTGGAGAGCAACTCAA	0.468000														47			36		0	0	0.006230	0	0
ABCA8	10351	broad.mit.edu	37	17	66902247	66902247	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr17:66902247G>A	uc002jhq.3	-	18	2676	c.2336C>T	c.(2335-2337)tCc>tTc	p.S779F	ABCA8_uc002jhp.3_Missense_Mutation_p.S739F|ABCA8_uc010wqq.2_Missense_Mutation_p.S779F|ABCA8_uc010wqr.2_Missense_Mutation_p.S718F|ABCA8_uc002jhr.3_Missense_Mutation_p.S779F	NM_007168	NP_009099	O94911	ABCA8_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 8 (ABCA8), mRNA.	739						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					AGTTGTCATGGAAACACCATA	0.308000														65			57		0	0	0.014410	0	0
FAT2	2196	broad.mit.edu	37	5	150923472	150923472	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:150923472G>A	uc003lue.4	-	8	7229	c.7216C>T	c.(7216-7218)Cct>Tct	p.P2406S		NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA.	2406	Cadherin 21.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTGCTGTCAGGGTCAATAGCC	0.478000														35			23		0	0	0.002780	0	0
SLC26A11	284129	broad.mit.edu	37	17	78201712	78201712	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr17:78201712C>T	uc002jyb.2	+	6	995	c.689C>T	c.(688-690)cCc>cTc	p.P230L	SLC26A11_uc002jyc.2_Missense_Mutation_p.P230L|SLC26A11_uc002jyd.2_Missense_Mutation_p.P230L|SLC26A11_uc010dhv.2_Missense_Mutation_p.P230L	NM_173626	NP_775897	Q86WA9	S2611_HUMAN	Homo sapiens solute carrier family 26, member 11 (SLC26A11), transcript variant 2, mRNA.	230						Golgi apparatus|endoplasmic reticulum|integral to membrane|lysosomal membrane|plasma membrane	anion:anion antiporter activity|secondary active sulfate transmembrane transporter activity			central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	28	all_neural(118;0.0538)		OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			CCCGAGATGCCCCCTGGTGTG	0.662000														18			12		0	0	0.001855	0	0
HEATR7B2	133558	broad.mit.edu	37	5	41065475	41065475	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:41065475C>T	uc003jmj.4	-	3	809	c.319G>A	c.(319-321)Gaa>Aaa	p.E107K	HEATR7B2_uc021xxt.1_Missense_Mutation_p.E107K	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	107							binding			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4)	133						ACAACGAATTCATCTGGTAGC	0.418000														13			12		0	0	0.013537	0	0
RFTN1	23180	broad.mit.edu	37	3	16450977	16450977	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:16450977C>T	uc003cay.3	-	3	628	c.346G>A	c.(346-348)Gat>Aat	p.D116N	RFTN1_uc010hes.3_Missense_Mutation_p.D80N	NM_015150	NP_055965	Q14699	RFTN1_HUMAN	Homo sapiens raftlin, lipid raft linker 1 (RFTN1), mRNA.	116						plasma membrane				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	38						TTGTGAAGATCAGTTTTCTGA	0.423000														26			17		0	0	0.006122	0	0
TCRVA15	0	broad.mit.edu	37	14	22205179	22205179	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr14:22205179C>T	uc001wbp.2	+	1	292	c.243C>T	c.(241-243)atC>atT	p.I81I	TRA_uc021rpa.1_Intron|TCRVA15_uc010aip.1_Intron|TCRVA15_uc021rpc.1_Non-coding_Transcript					SubName: Full=Tcell alpha chain; Flags: Fragment;																		CCCTGTTTATCCCTGCCGACA	0.498000														12			13		0	0	0.002450	0	0
SPON1	10418	broad.mit.edu	37	11	14284316	14284316	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:14284316G>A	uc001mle.3	+	15	2320	c.2052G>A	c.(2050-2052)ggG>ggA	p.G684G		NM_006108	NP_006099	Q9HCB6	SPON1_HUMAN	Homo sapiens spondin 1, extracellular matrix protein (SPON1), mRNA.	685	TSP type-1 5.				cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding			NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21				Epithelial(150;0.00898)		AGTCATGTGGGAAAGGCCACG	0.532000														11			16		0	0	0.003163	0	0
MYBPC1	4604	broad.mit.edu	37	12	102025435	102025435	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:102025435G>A	uc001tii.3	+	4	441	c.301G>A	c.(301-303)Gac>Aac	p.D101N	MYBPC1_uc001tif.2_Missense_Mutation_p.D114N|MYBPC1_uc001tig.3_Missense_Mutation_p.D126N|MYBPC1_uc010svr.2_Missense_Mutation_p.D101N|MYBPC1_uc010svs.2_Missense_Mutation_p.D101N|MYBPC1_uc001tij.3_Missense_Mutation_p.D101N|MYBPC1_uc010svt.2_Missense_Mutation_p.D89N|MYBPC1_uc010svu.2_Missense_Mutation_p.D101N|MYBPC1_uc001tik.3_Missense_Mutation_p.D75N|MYBPC1_uc001tih.3_Missense_Mutation_p.D126N|MYBPC1_uc010svq.2_Missense_Mutation_p.D88N	NM_206820	NP_996556	Q00872	MYPC1_HUMAN	Homo sapiens myosin binding protein C, slow type (MYBPC1), transcript variant 3, mRNA.	101	Ig-like C2-type 1.				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						AAAATGGATGGACCTGGCCAG	0.498000														53			36		0	0	0.004289	0	0
CPEB2	132864	broad.mit.edu	37	4	15063816	15063816	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr4:15063816C>T	uc003gnk.2	+	10	2809	c.2809C>T	c.(2809-2811)Cag>Tag	p.Q937*	CPEB2_uc003gnl.2_Nonsense_Mutation_p.Q910*|CPEB2_uc003gnm.2_Nonsense_Mutation_p.Q907*|CPEB2_uc003gni.2_Nonsense_Mutation_p.Q929*|CPEB2_uc003gnn.2_Nonsense_Mutation_p.Q902*|CPEB2_uc003gnj.2_Nonsense_Mutation_p.Q899*	NM_001177382	NP_001170853	Q7Z5Q1	CPEB2_HUMAN	Homo sapiens cytoplasmic polyadenylation element binding protein 2 (CPEB2), transcript variant D, mRNA.	492					regulation of translation	cytoplasm	RNA binding|nucleotide binding			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|skin(3)	14						TTTCTCCAATCAGCAGAGCTA	0.438000														67			50		0	0	0.014410	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102452703	102452703	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr14:102452703C>T	uc001yks.2	+	7	2305	c.2141C>T	c.(2140-2142)tCg>tTg	p.S714L		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	Homo sapiens dynein, cytoplasmic 1, heavy chain 1 (DYNC1H1), mRNA.	714	Interaction with DYNC1LI2 (By similarity).|Stem (By similarity).				G2/M transition of mitotic cell cycle|cytoplasmic mRNA processing body assembly|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	Golgi apparatus|centrosome|cytoplasmic dynein complex|cytosol|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						CTCGGTGTCTCGGGGCGCATT	0.512000														17			27		0	0	0.007291	0	0
OR8H1	219469	broad.mit.edu	37	11	56057790	56057790	+	Missense_Mutation	SNP	A	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:56057790A>T	uc010rje.2	-	0	749	c.749T>A	c.(748-750)tTt>tAt	p.F250Y		NM_001005199	NP_001005199	Q8NGG4	OR8H1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily H, member 1 (OR8H1), mRNA.	250					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Esophageal squamous(21;0.00448)					AGTTCCATAAAAGATGGTGAC	0.363000														24			30		0	0	0.006320	0	0
SYMPK	8189	broad.mit.edu	37	19	46330784	46330784	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:46330784G>A	uc002pdn.3	-	15	2410	c.2165C>T	c.(2164-2166)tCc>tTc	p.S722F	SYMPK_uc002pdo.1_Missense_Mutation_p.S722F|SYMPK_uc002pdp.1_Missense_Mutation_p.S722F	NM_004819	NP_004810	Q92797	SYMPK_HUMAN	Homo sapiens symplekin (SYMPK), mRNA.	722					cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		CTTCTCATGGGAGCTGAGGTC	0.597000														13			20		0	0	0.008871	0	0
PTK7	5754	broad.mit.edu	37	6	43111199	43111199	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr6:43111199C>T	uc011dve.1	+	13	2158	c.2116C>T	c.(2116-2118)Ccc>Tcc	p.P706S	PTK7_uc003oub.1_Missense_Mutation_p.P698S|PTK7_uc003ouc.1_Missense_Mutation_p.P642S|PTK7_uc003oud.1_Missense_Mutation_p.P658S|PTK7_uc003oue.1_Missense_Mutation_p.P568S|PTK7_uc003ouf.1_Non-coding_Transcript|PTK7_uc003oug.1_Non-coding_Transcript|PTK7_uc010jyj.1_Intron	NM_002821	NP_002812	Q13308	PTK7_HUMAN	Homo sapiens PTK7 protein tyrosine kinase 7 (PTK7), transcript variant PTK7-1, mRNA.	698					actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration	cell-cell junction|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			CAGCCCTCCCCCCTACAAGAT	0.602000											OREG0017450	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		79			28		0	0	0.009535	0	0
UNC5B	219699	broad.mit.edu	37	10	73055576	73055576	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr10:73055576G>A	uc001jro.3	+	13	2635	c.2184G>A	c.(2182-2184)ctG>ctA	p.L728L	UNC5B_uc001jrp.3_Silent_p.L717L	NM_170744	NP_734465	Q8IZJ1	UNC5B_HUMAN	Homo sapiens unc-5 homolog B (C. elegans) (UNC5B), transcript variant 1, mRNA.	728					apoptosis|axon guidance|regulation of apoptosis	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						AGGAGGTGCTGGAGCTGGAGC	0.642000														6			15		0	0	0.003163	0	0
OCLN	100506658	broad.mit.edu	37	5	70378606	70378606	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:70378606G>A	uc011cru.1	-	1	238	c.170C>T	c.(169-171)tCa>tTa	p.S57L	NAIP_uc003kat.1_Intron	NM_001205255	NP_001192184	Q16625	OCLN_HUMAN	Homo sapiens occludin (OCLN), transcript variant 3, mRNA.	0					cellular component disassembly involved in apoptosis|protein complex assembly	integral to membrane|tight junction	protein binding|structural molecule activity			endometrium(2)|large_intestine(1)|liver(1)|prostate(1)|skin(1)	6		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)		GTCGGTACCTGATCCAGTCCT	0.507000														2			21		0	0	0.005443	0	0
C9orf174	100499483	broad.mit.edu	37	9	100092936	100092936	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr9:100092936G>A	uc011lut.2	+	31	3716	c.2710G>A	c.(2710-2712)Gag>Aag	p.E904K	C9orf174_uc004axe.2_Missense_Mutation_p.E904K|C9orf174_uc011lus.2_Missense_Mutation_p.E722K|C9orf174_uc004axg.2_Missense_Mutation_p.E765K|C9orf174_uc004axh.2_Non-coding_Transcript|C9orf174_uc010msm.1_Non-coding_Transcript|C9orf174_uc004axf.3_Missense_Mutation_p.E765K|C9orf174_uc011luv.1_Missense_Mutation_p.E762K	NM_020893	NP_065944	Q9P1Z9	CI174_HUMAN	Homo sapiens chromosome 9 open reading frame 174 (C9orf174), mRNA.	904	Glu-rich.					integral to membrane				breast(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(1)	16						AGAAAagaaggaggagtcaga	0.502000														1			6		0	0	0.001984	0	0
BNC1	646	broad.mit.edu	37	15	83933330	83933330	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr15:83933330C>T	uc002bjt.1	-	3	761	c.673G>A	c.(673-675)Gga>Aga	p.G225R	BNC1_uc010uos.1_Missense_Mutation_p.G213R	NM_001717	NP_001708	Q01954	BNC1_HUMAN	Homo sapiens basonuclin 1 (BNC1), mRNA.	225					epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						CTGGGGTTTCCTTTGTCCACA	0.493000														41			29		0	0	0.008361	0	0
abParts	0	broad.mit.edu	37	14	106725137	106725137	+	RNA	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr14:106725137C>T	uc021ser.1	-	928		c.22341G>A								Parts of antibodies, mostly variable regions.																		CCGCTGATTTCCCCCCCATCG	0.587000														45			26		0	0	0.003330	0	0
ADD2	119	broad.mit.edu	37	2	70923465	70923465	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:70923465C>T	uc021vjc.1	-	4	651	c.386G>A	c.(385-387)gGg>gAg	p.G129E	ADD2_uc010fds.2_Non-coding_Transcript|ADD2_uc002sgy.3_Missense_Mutation_p.G129E|ADD2_uc002sgz.3_Missense_Mutation_p.G129E|ADD2_uc010fdt.2_Missense_Mutation_p.G129E|ADD2_uc002shc.2_Missense_Mutation_p.G129E|ADD2_uc010fdu.2_Missense_Mutation_p.G145E	NM_001185054	NP_001608	P35612	ADDB_HUMAN	Homo sapiens adducin 2 (beta) (ADD2), transcript variant 5, mRNA.	129					actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	F-actin capping protein complex|cytoplasm|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						GAGCCGCTCCCCTTTGGCCAG	0.592000														11			13		0	0	0.002450	0	0
DNAH17	8632	broad.mit.edu	37	17	76423048	76423048	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr17:76423048C>T	uc010dhp.2	-	77	12855	c.12730G>A	c.(12730-12732)Gaa>Aaa	p.E4244K	DNAH17_uc002jvq.3_Missense_Mutation_p.E529K|DNAH17_uc002jvs.3_Non-coding_Transcript	NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CGGCGCATTTCGTTGGTCAGG	0.542000														8			5		0	0	0.001168	0	0
TEKT1	83659	broad.mit.edu	37	17	6716195	6716195	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr17:6716195C>T	uc002gdt.3	-	5	917	c.807G>A	c.(805-807)aaG>aaA	p.K269K	TEKT1_uc010vth.2_Silent_p.K123K	NM_053285	NP_444515	Q969V4	TEKT1_HUMAN	Homo sapiens tektin 1 (TEKT1), mRNA.	269					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20		Myeloproliferative disorder(207;0.0255)				CCTTTGTATCCTTCAGCCCAT	0.532000														70			65		0	0	0.014410	0	0
EPHA2	1969	broad.mit.edu	37	1	16474942	16474942	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:16474942C>T	uc001aya.2	-	2	909	c.754G>A	c.(754-756)Gag>Aag	p.E252K	EPHA2_uc010oca.2_Missense_Mutation_p.E252K	NM_004431	NP_004422	P29317	EPHA2_HUMAN	Homo sapiens EPH receptor A2 (EPHA2), mRNA.	252	Cys-rich.				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	ACCAGCCACTCGCCATCCACT	0.652000														3			58		0	0	0.014410	0	0
PLCL2	23228	broad.mit.edu	37	3	17053137	17053137	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:17053137C>T	uc011awc.2	+	2	2371	c.2275C>T	c.(2275-2277)Ccc>Tcc	p.P759S	PLCL2_uc011awd.2_Missense_Mutation_p.P641S	NM_001144382	NP_001137854	Q9UPR0	PLCL2_HUMAN	Homo sapiens phospholipase C-like 2 (PLCL2), transcript variant 1, mRNA.	767	C2.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						GCAGAACTTTCCCAAGCCCAA	0.468000														7			14		0	0	0.004990	0	0
CHL1	10752	broad.mit.edu	37	3	391158	391158	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:391158G>A	uc003bot.3	+	9	1607	c.965G>A	c.(964-966)gGa>gAa	p.G322E	CHL1_uc003bou.3_Missense_Mutation_p.G306E|CHL1_uc003bow.2_Missense_Mutation_p.G306E|CHL1_uc011asi.2_Missense_Mutation_p.G322E	NM_006614	NP_006605	O00533	CHL1_HUMAN	Homo sapiens cell adhesion molecule with homology to L1CAM (close homolog of L1) (CHL1), transcript variant 1, mRNA.	306	Ig-like C2-type 3.				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)		CAGGACAAAGGAAATTATCGC	0.413000														59			40		0	0	0.010771	0	0
KIAA1274	27143	broad.mit.edu	37	10	72324221	72324221	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr10:72324221C>T	uc001jrd.4	+	18	2645	c.2364C>T	c.(2362-2364)ctC>ctT	p.L788L	KIAA1274_uc001jre.4_Silent_p.L79L	NM_014431	NP_055246	Q9ULE6	PALD_HUMAN	Homo sapiens KIAA1274 (KIAA1274), mRNA.	788										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(21)|ovary(2)|prostate(4)|urinary_tract(1)	36						ACGCGTACCTCCACCTGGAGA	0.642000														55			43		0	0	0.014410	0	0
EGFLAM	133584	broad.mit.edu	37	5	38352305	38352305	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:38352305C>T	uc003jlc.2	+	4	763	c.417C>T	c.(415-417)tgC>tgT	p.C139C	EGFLAM_uc003jlb.2_Silent_p.C139C	NM_001205301	NP_001192230	Q63HQ2	EGFLA_HUMAN	Homo sapiens EGF-like, fibronectin type III and laminin G domains (EGFLAM), transcript variant 5, mRNA.	139						cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					TAGATTCCTGCCTGCCTCCTG	0.562000														62			37		0	0	0.011902	0	0
HK3	3101	broad.mit.edu	37	5	176314234	176314234	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:176314234G>A	uc003mfa.3	-	11	1797	c.1705C>T	c.(1705-1707)Ccc>Tcc	p.P569S	HK3_uc003mez.3_Missense_Mutation_p.P125S	NM_002115	NP_002106	P52790	HXK3_HUMAN	Homo sapiens hexokinase 3 (white cell) (HK3), nuclear gene encoding mitochondrial protein, mRNA.	569	Catalytic.				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ACAGTCTCGGGAATGGAGTAG	0.617000														27			8		0	0	0.003080	0	0
ARHGAP6	395	broad.mit.edu	37	X	11215113	11215113	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:11215113C>T	uc004cup.1	-	2	1625	c.752G>A	c.(751-753)gGa>gAa	p.G251E	ARHGAP6_uc004cuo.1_Non-coding_Transcript|ARHGAP6_uc004cur.1_Missense_Mutation_p.G251E|ARHGAP6_uc004cum.1_Missense_Mutation_p.G48E|ARHGAP6_uc004cun.1_Missense_Mutation_p.G71E|ARHGAP6_uc010neb.1_Missense_Mutation_p.G73E|ARHGAP6_uc011mif.1_Missense_Mutation_p.G48E	NM_013427	NP_038286	O43182	RHG06_HUMAN	Homo sapiens Rho GTPase activating protein 6 (ARHGAP6), transcript variant 1, mRNA.	251					Rho protein signal transduction|actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly	actin filament|cytosol	Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity|phospholipase activator activity|phospholipase binding			cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						TCTCTTTTGTCCATCTGTAAA	0.299000														13			11		0	0	0.008291	0	0
NUP214	8021	broad.mit.edu	37	9	134073006	134073006	+	Silent	SNP	T	C	C			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr9:134073006T>C	uc004cag.3	+	28	4236	c.4125T>C	c.(4123-4125)acT>acC	p.T1375T	NUP214_uc004cah.3_Silent_p.T1365T|NUP214_uc004cai.3_Silent_p.T805T|NUP214_uc010mzg.3_Non-coding_Transcript|NUP214_uc011mcg.2_Silent_p.T201T|NUP214_uc011mcf.1_Silent_p.T152T|NUP214_uc010mzh.1_5'UTR|NUP214_uc010mzi.1_5'UTR	NM_005085	NP_005076	P35658	NU214_HUMAN	Homo sapiens nucleoporin 214kDa (NUP214), mRNA.	1375	11 X 5 AA approximate repeats.|Pro/Ser/Thr-rich.				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		TTAATTTTACTGCCCCCCCGG	0.542000			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""									5			43		0	0	0.014410	0	0
DKK3	27122	broad.mit.edu	37	11	11987475	11987475	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:11987475C>T	uc010rcg.1	-	6	869	c.711G>A	c.(709-711)gaG>gaA	p.E237E	DKK3_uc010rcf.2_Silent_p.E209E|DKK3_uc001mju.3_Silent_p.E237E|DKK3_uc001mjv.3_Silent_p.E237E|DKK3_uc001mjw.3_Silent_p.E237E	NM_015881	NP_056965	Q9UBP4	DKK3_HUMAN	Homo sapiens dickkopf 3 homolog (Xenopus laevis) (DKK3), transcript variant 1, mRNA.	237	DKK-type Cys-2.				Wnt receptor signaling pathway|adrenal gland development|anatomical structure morphogenesis|negative regulation of aldosterone biosynthetic process|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cortisol biosynthetic process|negative regulation of transcription, DNA-dependent	extracellular space				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|pancreas(1)	8				Epithelial(150;0.000502)		AAAGCTCGCCCTCCACGGGCA	0.652000														13			11		0	0	0.010729	0	0
SPHK2	56848	broad.mit.edu	37	19	49129386	49129386	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:49129386C>T	uc002pjw.3	+	0	1161	c.464C>T	c.(463-465)cCg>cTg	p.P155L	SPHK2_uc010xzt.2_Missense_Mutation_p.P34L|SPHK2_uc002pjt.3_Intron|SPHK2_uc002pjr.3_Missense_Mutation_p.P93L|SPHK2_uc002pjs.3_Missense_Mutation_p.P93L|SPHK2_uc002pju.3_Missense_Mutation_p.P57L|SPHK2_uc002pjv.3_Missense_Mutation_p.P57L|SPHK2_uc010xzu.1_Missense_Mutation_p.P57L	NM_001204160	NP_001191089	Q9NRA0	SPHK2_HUMAN	Homo sapiens sphingosine kinase 2 (SPHK2), transcript variant 4, mRNA.	93	Required for binding to sulfatide and phosphoinositides and for membrane localization.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cell proliferation|sphinganine-1-phosphate biosynthetic process	cytosol|lysosomal membrane|membrane fraction	ATP binding|D-erythro-sphingosine kinase activity|Ras GTPase binding|diacylglycerol kinase activity|sphinganine kinase activity			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		GGCCTGGTCCCGTTGGCCGAG	0.697000														13			10		0	0	0.008291	0	0
PLCD1	5333	broad.mit.edu	37	3	38051222	38051222	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:38051222G>A	uc003chm.3	-	8	1785	c.1431C>T	c.(1429-1431)gcC>gcT	p.A477A	PLCD1_uc003chn.3_Silent_p.A456A	NM_001130964	NP_001124436	P51178	PLCD1_HUMAN	Homo sapiens phospholipase C, delta 1 (PLCD1), transcript variant 1, mRNA.	456					intracellular signal transduction|lipid catabolic process|phospholipid metabolic process	cytoplasm	GTPase activating protein binding|calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	p.R476C(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		ACACCACAGTGGCCTCAGGGC	0.637000														14			16		0	0	0.007413	0	0
RNF213	57674	broad.mit.edu	37	17	78327409	78327410	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr17:78327409_78327410GG>AA	uc002jyh.2	+	34	10811_10812	c.10668_10669GG>AA	c.(10666-10671)atggaa>atAAaa	p.3556_3557ME>IK	RNF213_uc021uen.1_Missense_Mutation_p.3507_3508ME>IK|LOC100294362_uc002jyi.2_3'UTR	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	SubName: Full=Uncharacterized protein;	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			AGGAGGCCATGGAAACAGAAAG	0.584000														23			21		0	0	0.004672	0	0
OR51B6	390058	broad.mit.edu	37	11	5372815	5372815	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:5372815C>T	uc010qzb.2	+	0	78	c.78C>T	c.(76-78)ttC>ttT	p.F26F	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron	NM_001004750	NP_001004750	Q9H340	O51B6_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily B, member 6 (OR51B6), mRNA.	26					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	21		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACTGGATATTCATCCCATTAT	0.468000														21			31		0	0	0.012213	0	0
BPIFA2	140683	broad.mit.edu	37	20	31763300	31763300	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr20:31763300G>A	uc002wyo.1	+	4	569	c.498G>A	c.(496-498)caG>caA	p.Q166Q		NM_080574	NP_542141	Q96DR5	SPLC2_HUMAN	Homo sapiens BPI fold containing family A, member 2 (BPIFA2), mRNA.	166						extracellular region	lipid binding										AGACACACCAGCCTGTTGCCG	0.527000														80			57		0	0	0.014410	0	0
ZNF502	91392	broad.mit.edu	37	3	44763128	44763129	+	Missense_Mutation	DNP	GA	CG	CG			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:44763128_44763129GA>CG	uc011baa.2	+	3	1074_1075	c.819_820GA>CG	c.(817-822)gggaag>ggCGag	p.K274E	ZNF502_uc003cns.3_Missense_Mutation_p.K274E|ZNF502_uc011bab.2_Missense_Mutation_p.K274E|ZNF502_uc003cnt.3_Missense_Mutation_p.K274E	NM_001134440	NP_149987	Q8TBZ5	ZN502_HUMAN	Homo sapiens zinc finger protein 502 (ZNF502), transcript variant 2, mRNA.	274					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(4)|large_intestine(8)|lung(4)|prostate(1)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.00855)|KIRC - Kidney renal clear cell carcinoma(197;0.0471)|Kidney(197;0.0589)		ATAGGTGTGGGAAGGCATTCAA	0.406000														111			86		0	0	0.004672	0	0
DPP8	54878	broad.mit.edu	37	15	65772729	65772729	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr15:65772729G>A	uc002aov.3	-	9	2753	c.1175C>T	c.(1174-1176)tCc>tTc	p.S392F	DPP8_uc002aow.3_Missense_Mutation_p.S392F|DPP8_uc010uiv.2_Non-coding_Transcript|DPP8_uc021soz.1_Missense_Mutation_p.S376F|DPP8_uc002aox.3_Missense_Mutation_p.S376F|DPP8_uc002aoy.3_Missense_Mutation_p.S392F|DPP8_uc002aoz.3_Missense_Mutation_p.S376F|DPP8_uc010bhj.3_Missense_Mutation_p.S392F|DPP8_uc010bhk.1_Intron	NM_130434	NP_569118	Q6V1X1	DPP8_HUMAN	Homo sapiens dipeptidyl-peptidase 8 (DPP8), transcript variant 1, mRNA.	392					immune response|proteolysis	cytoplasm|membrane|nucleus	aminopeptidase activity|dipeptidyl-peptidase activity|serine-type peptidase activity	p.I391I(1)		NS(1)|breast(2)|endometrium(3)|large_intestine(11)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TAGTAGGATGGACCAAGCACT	0.373000														18			10		0	0	0.006214	0	0
BCAT2	587	broad.mit.edu	37	19	49309780	49309780	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:49309780G>A	uc010emh.2	-	2	350	c.294C>T	c.(292-294)tcC>tcT	p.S98S	BCAT2_uc002pkq.4_Silent_p.S58S|BCAT2_uc002pks.3_Silent_p.S58S|BCAT2_uc002pkr.3_Silent_p.S98S|BCAT2_uc002pkt.3_Intron|BCAT2_uc010emi.2_Intron|BCAT2_uc002pku.1_Silent_p.S58S|BCAT2_uc010emj.2_Non-coding_Transcript	NM_001190	NP_001181	O15382	BCAT2_HUMAN	Homo sapiens branched chain amino-acid transaminase 2, mitochondrial (BCAT2), nuclear gene encoding mitochondrial protein, transcript variant a, mRNA.	98						mitochondrial matrix	L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	12		all_epithelial(76;7e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.000366)|Epithelial(262;0.0195)|GBM - Glioblastoma multiforme(486;0.0224)	L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|Pyridoxal Phosphate(DB00114)	CCACCTGCAGGGAGTAGTGGA	0.607000														33			28		0	0	0.009535	0	0
GPCPD1	56261	broad.mit.edu	37	20	5545699	5545700	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr20:5545699_5545700GG>AA	uc002wme.4	-	14	1505_1506	c.1292_1293CC>TT	c.(1291-1293)tcc>tTT	p.S431F	GPCPD1_uc002wmd.4_Missense_Mutation_p.S250F	NM_019593	NP_062539	Q9NPB8	GPCP1_HUMAN	Homo sapiens glycerophosphocholine phosphodiesterase GDE1 homolog (S. cerevisiae) (GPCPD1), mRNA.	431	GDPD.				glycerol metabolic process|lipid metabolic process		carbohydrate binding|glycerophosphodiester phosphodiesterase activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|skin(1)	16						TTTCTGAAAAGGAATTTTCCTC	0.322000														87			44		0	0	0.004672	0	0
NLRP4	147945	broad.mit.edu	37	19	56390161	56390161	+	Splice_Site	SNP	T	C	C			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:56390161T>C	uc002qmd.4	+	9	3119	c.2697_splice	c.e9-1	p.G899_splice	NLRP4_uc002qmf.3_Splice_Site_p.G824_splice|NLRP4_uc010etf.3_Splice_Site_p.G674_splice	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	Homo sapiens NLR family, pyrin domain containing 4 (NLRP4), mRNA.	899							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)		TTATTGCAGGTTGGAAGAATG	0.532000														9			6		0	0	0.001168	0	0
GDPGP1	390637	broad.mit.edu	37	15	90785030	90785030	+	Missense_Mutation	SNP	C	G	G			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr15:90785030C>G	uc002bpc.3	+	3	1069	c.890C>G	c.(889-891)cCg>cGg	p.P297R	GDPGP1_uc021suh.1_Missense_Mutation_p.P297R	NM_001013657	NP_001013679	Q6ZNW5	VTC2_HUMAN	Homo sapiens chromosome 15 open reading frame 58 (C15orf58), mRNA.	297					glucose metabolic process	cytoplasm	GDP-D-glucose phosphorylase activity										GGAGCTCCGCCGGGAAAGACA	0.527000														37			28		0	0	0.005443	0	0
GLRA2	2742	broad.mit.edu	37	X	14708921	14708921	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:14708921C>T	uc010neq.3	+	7	1780	c.1020C>T	c.(1018-1020)ttC>ttT	p.F340F	GLRA2_uc004cwe.4_Silent_p.F340F|GLRA2_uc011mio.2_Silent_p.F251F|GLRA2_uc010nep.3_Silent_p.F340F|GLRA2_uc011mip.2_Silent_p.F318F	NM_002063	NP_002054	P23416	GLRA2_HUMAN	Homo sapiens glycine receptor, alpha 2 (GLRA2), transcript variant 1, mRNA.	340					neuropeptide signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(22)|ovary(1)|prostate(1)|skin(2)	37	Hepatocellular(33;0.128)				Ethanol(DB00898)|Glycine(DB00145)	CGGTGAACTTCGTCTCCAGGC	0.498000														51			51		0	0	0.014410	0	0
PYDC2	152138	broad.mit.edu	37	3	191179053	191179053	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:191179053C>T	uc011bso.2	+	0	102	c.102C>T	c.(100-102)tcC>tcT	p.S34S		NM_001083308	NP_001076777	Q56P42	PYDC2_HUMAN	Homo sapiens pyrin domain containing 2 (PYDC2), mRNA.	34	DAPIN.					cytoplasm|nucleus		p.I33I(1)		breast(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	10						GAACAATCTCCCTGGGAAAGG	0.532000														69			39		0	0	0.006999	0	0
KAT2A	2648	broad.mit.edu	37	17	40271693	40271693	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr17:40271693G>A	uc002hyx.2	-	4	803	c.743C>T	c.(742-744)cCc>cTc	p.P248L		NM_021078	NP_066564	Q92830	KAT2A_HUMAN	Homo sapiens K(lysine) acetyltransferase 2A (KAT2A), mRNA.	248					chromatin remodeling|histone deubiquitination|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex	H3 histone acetyltransferase activity|histone deacetylase binding|protein binding|transcription coactivator activity			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						CCGCTCCCGGGGAGCCAGGTG	0.557000														10			15		0	0	0.006122	0	0
SYCP2L	221711	broad.mit.edu	37	6	10898272	10898272	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr6:10898272G>A	uc003mzo.3	+	4	661	c.365G>A	c.(364-366)gGa>gAa	p.G122E	SYCP2L_uc011din.1_5'UTR|SYCP2L_uc010jow.3_5'UTR	NM_001040274	NP_001035364	Q5T4T6	SYC2L_HUMAN	Homo sapiens synaptonemal complex protein 2-like (SYCP2L), mRNA.	122						nucleus		p.G122E(2)		breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			AGAACAACAGGAATTCTGACC	0.418000														60			20		0	0	0.014323	0	0
X06774	0	broad.mit.edu	37	7	38374786	38374786	+	RNA	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:38374786G>A	uc010kxk.1	-	1		c.331C>T								Homo sapiens cDNA FLJ77147 complete cds, highly similar to Homo sapiens T cell receptor gamma variable 7, mRNA.																		GGAGTAGTAGGGGTCATAGTA	0.438000														21			7		0	0	0.003080	0	0
WDFY3	23001	broad.mit.edu	37	4	85663060	85663060	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr4:85663060G>A	uc003hpd.3	-	37	6496	c.6088C>T	c.(6088-6090)Ctg>Ttg	p.L2030L		NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	Homo sapiens WD repeat and FYVE domain containing 3 (WDFY3), mRNA.	2030						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		GTAATAGGCAGAGATGCATCT	0.408000														20			16		0	0	0.004990	0	0
YEATS2	55689	broad.mit.edu	37	3	183435492	183435492	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:183435492C>T	uc003fly.2	+	2	349	c.154C>T	c.(154-156)Ctt>Ttt	p.L52F		NM_018023	NP_060493	Q9ULM3	YETS2_HUMAN	Homo sapiens YEATS domain containing 2 (YEATS2), mRNA.	52					histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			ACAGTTTGCTCTTGAAATGAA	0.323000														76			59		0	0	0.014410	0	0
TSPAN12	23554	broad.mit.edu	37	7	120428792	120428792	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:120428792C>T	uc003vjk.3	-	7	1146	c.772G>A	c.(772-774)Gac>Aac	p.D258N	TSPAN12_uc010lkj.3_Missense_Mutation_p.D131N	NM_012338	NP_036470	O95859	TSN12_HUMAN	Homo sapiens tetraspanin 12 (TSPAN12), mRNA.	258					angiogenesis|cell surface receptor linked signaling pathway|regulation of angiogenesis|retina layer formation	integral to plasma membrane|membrane fraction				endometrium(3)|kidney(1)|lung(4)|ovary(1)|skin(1)	10	all_neural(327;0.117)					ATCATTTGGTCTGTCCCCGGC	0.468000														35			56		0	0	0.014410	0	0
POTEG	404785	broad.mit.edu	37	14	19553590	19553590	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr14:19553590G>A	uc001vuz.1	+	0	226	c.174G>A	c.(172-174)agG>agA	p.R58R	POTEG_uc001vva.1_Non-coding_Transcript|POTEG_uc010ahc.1_Non-coding_Transcript	NM_001005356	NP_001005356	Q6S5H5	POTEG_HUMAN	Homo sapiens POTE ankyrin domain family, member G (POTEG), transcript variant 1, mRNA.	58								p.R58S(4)|p.L57P(1)|p.L57L(1)		cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						AGACACTCAGGAGCAAGATGG	0.612000														464			75		0	0	0.014410	0	0
PLD5	200150	broad.mit.edu	37	1	242271122	242271122	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:242271122C>T	uc001hzn.2	-	8	1317	c.1090G>A	c.(1090-1092)Gat>Aat	p.D364N	PLD5_uc021pll.1_Missense_Mutation_p.D272N|PLD5_uc001hzl.4_Missense_Mutation_p.D302N|PLD5_uc001hzm.4_Missense_Mutation_p.D156N|PLD5_uc001hzo.2_Missense_Mutation_p.D272N	NM_152666	NP_001182741	Q8N7P1	PLD5_HUMAN	Homo sapiens phospholipase D family, member 5 (PLD5), transcript variant 1, mRNA.	364						integral to membrane	catalytic activity	p.D363N(1)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)			ATTTTTGCATCCAAGTCTGGC	0.348000														147			23		0	0	0.012319	0	0
CST8	10047	broad.mit.edu	37	20	23472382	23472382	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr20:23472382G>A	uc002wth.1	+	1	435	c.78G>A	c.(76-78)aaG>aaA	p.K26K		NM_005492	NP_005483	O60676	CST8_HUMAN	Homo sapiens cystatin 8 (cystatin-related epididymal specific) (CST8), mRNA.	26						extracellular region	cysteine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(9)|skin(2)	16	Colorectal(13;0.0431)|Lung NSC(19;0.235)					ACCCAAAAAAGAATGAGACAG	0.532000														65			54		0	0	0.014410	0	0
CHRNA5	1138	broad.mit.edu	37	15	78873233	78873233	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr15:78873233C>T	uc002bdy.3	+	1	387	c.187C>T	c.(187-189)Cgt>Tgt	p.R63C		NM_000745	NP_000736	P30532	ACHA5_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 5 (CHRNA5), mRNA.	63					behavioral response to nicotine	cell junction|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)|skin(3)	15						AAGATGGGTTCGTCCTGTGGA	0.328000														28			29		0	0	0.007291	0	0
CNGA4	1262	broad.mit.edu	37	11	6261362	6261362	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:6261362G>A	uc001mco.3	+	3	453	c.338G>A	c.(337-339)tGg>tAg	p.W113*	CNGA4_uc010raa.2_Intron|CNGA4_uc001mcn.3_Nonsense_Mutation_p.W73*	NM_001037329	NP_001032406	Q8IV77	CNGA4_HUMAN	Homo sapiens cyclic nucleotide gated channel alpha 4 (CNGA4), mRNA.	113					response to stimulus|sensory perception of smell		cAMP binding			endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GTTCGCACCTGGAGTTTCTTC	0.617000														75			51		0	0	0.014410	0	0
PRKDC	5591	broad.mit.edu	37	8	48707049	48707049	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr8:48707049G>A	uc003xqi.3	-	74	10526	c.10469C>T	c.(10468-10470)cCc>cTc	p.P3490L	PRKDC_uc003xqj.3_Missense_Mutation_p.P3490L	NM_006904	NP_008835	P78527	PRKDC_HUMAN	Homo sapiens protein kinase, DNA-activated, catalytic polypeptide (PRKDC), transcript variant 1, mRNA.	3491	FAT.				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	p.S3489S(1)		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)				CTGCCAGCAGGGAACGGAAGA	0.418000								Non-homologous end-joining						17			10		0	0	0.010729	0	0
SLC22A24	283238	broad.mit.edu	37	11	62911098	62911098	+	Missense_Mutation	SNP	G	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:62911098G>T	uc021qkp.1	-	0	596	c.154C>A	c.(154-156)Ccc>Acc	p.P52T		NM_001136506	NP_001129978			Homo sapiens solute carrier family 22, member 24 (SLC22A24), mRNA.											kidney(1)|stomach(1)	2						TCCAGGAGGGGGACCCAGCAG	0.502000														7			17		2.94398e-08	3.97377e-08	0.007413	1	0
NPIPL2	440348	broad.mit.edu	37	16	74419270	74419270	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr16:74419270C>T	uc010vmt.1	+	1	98	c.97C>T	c.(97-99)Cga>Tga	p.R33*				C9J9U8	C9J9U8_HUMAN	RecName: Full=Nuclear pore complex-interacting protein-like 2; Flags: Precursor;	94										endometrium(5)|kidney(3)|lung(1)|prostate(8)	17						CTTCTGGTCTCGAAATGGACA	0.473000														228			32		0	0	0.014410	0	0
ZNF473	25888	broad.mit.edu	37	19	50548183	50548183	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:50548183C>T	uc002prn.3	+	4	720	c.483C>T	c.(481-483)acC>acT	p.T161T	ZNF473_uc002prm.3_Silent_p.T161T|ZNF473_uc010ybo.2_Silent_p.T149T	NM_001006656	NP_056243	Q8WTR7	ZN473_HUMAN	Homo sapiens zinc finger protein 473 (ZNF473), transcript variant 2, mRNA.	161					histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	Cajal body	DNA binding|protein binding|zinc ion binding	p.T161T(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		CTGTGTCCACCGTTTCCACGG	0.468000														32			28		0	0	0.006320	0	0
PTCHD2	57540	broad.mit.edu	37	1	11574475	11574475	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:11574475G>A	uc001ash.4	+	3	1483	c.1345G>A	c.(1345-1347)Gac>Aac	p.D449N	PTCHD2_uc001asi.1_Missense_Mutation_p.D449N	NM_020780	NP_065831	Q9P2K9	PTHD2_HUMAN	Homo sapiens patched domain containing 2 (PTCHD2), mRNA.	449					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		TGGGGGGACAGACCTGTTTGA	0.517000														6			52		0	0	0.014410	0	0
CDC14C	168448	broad.mit.edu	37	7	48965213	48965213	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:48965213G>A	uc010kyv.1	+	0	1057	c.945G>A	c.(943-945)agG>agA	p.R315R						Homo sapiens CDC14 cell division cycle 14 homolog C (S. cerevisiae) (CDC14C), non-coding RNA.																		CGTGGGTAAGGATCTGCAGAC	0.512000														35			22		0	0	0.014323	0	0
NID1	4811	broad.mit.edu	37	1	236212091	236212091	+	Missense_Mutation	SNP	A	G	G			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:236212091A>G	uc001hxo.3	-	1	526	c.424T>C	c.(424-426)Ttc>Ctc	p.F142L	NID1_uc009xgd.3_Missense_Mutation_p.F142L	NM_002508	NP_002499	P14543	NID1_HUMAN	Homo sapiens nidogen 1 (NID1), mRNA.	142	NIDO.				cell-matrix adhesion	basement membrane	calcium ion binding			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	ATCTCCGGGAACCCTCTGTGG	0.587000														40			38		0	0	0.006230	0	0
DDC	1644	broad.mit.edu	37	7	50531072	50531072	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:50531072G>A	uc003tpg.4	-	13	1501	c.1300C>T	c.(1300-1302)Cac>Tac	p.H434Y	DDC_uc022ade.1_Missense_Mutation_p.H356Y|DDC_uc003tpf.4_Missense_Mutation_p.H434Y|DDC_uc022adb.1_Missense_Mutation_p.H396Y|DDC_uc022adc.1_Missense_Mutation_p.H386Y|DDC_uc022add.1_Missense_Mutation_p.H341Y	NM_001082971	NP_001076440	P20711	DDC_HUMAN	Homo sapiens dopa decarboxylase (aromatic L-amino acid decarboxylase) (DDC), transcript variant 1, mRNA.	434					cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding	p.H434L(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409)	GGAACCAAGTGGATTTTTTTG	0.502000														40			51		0	0	0.014410	0	0
ZNF665	79788	broad.mit.edu	37	19	53667726	53667726	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:53667726G>A	uc010eqm.1	-	3	2117	c.2017C>T	c.(2017-2019)Cga>Tga	p.R673*		NM_024733	NP_079009	Q9H7R5	ZN665_HUMAN	Homo sapiens zinc finger protein 665 (ZNF665), mRNA.	608					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		TGAATTCTTCGATGTTTTGCA	0.488000														8			12		0	0	0.013537	0	0
ZACN	353174	broad.mit.edu	37	17	74075808	74075808	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr17:74075808C>T	uc002jqn.2	+	2	331	c.248C>T	c.(247-249)tCc>tTc	p.S83F	ZACN_uc002jqo.2_Non-coding_Transcript|ZACN_uc010dgu.2_Intron	NM_180990	NP_851321	Q401N2	ZACN_HUMAN	Homo sapiens zinc activated ligand-gated ion channel (ZACN), mRNA.	83					response to zinc ion	integral to membrane|membrane fraction|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	11						ACAATGTCCTCCATGCTGCTG	0.567000														16			12		0	0	0.004007	0	0
ALDH1B1	219	broad.mit.edu	37	9	38397029	38397029	+	Missense_Mutation	SNP	G	C	C			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr9:38397029G>C	uc022bgy.1	+	0	1284	c.1284G>C	c.(1282-1284)aaG>aaC	p.K428N	ALDH1B1_uc004aay.3_Missense_Mutation_p.K428N	NM_000692	NP_000683	P30837	AL1B1_HUMAN	Homo sapiens aldehyde dehydrogenase 1 family, member B1 (ALDH1B1), nuclear gene encoding mitochondrial protein, mRNA.	428					carbohydrate metabolic process	mitochondrial matrix|nucleus	aldehyde dehydrogenase (NAD) activity			NS(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(2)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)	NADH(DB00157)	TCAAGTTCAAGAAGATTGAGG	0.537000														14			15		0	0	0.002450	0	0
RET	5979	broad.mit.edu	37	10	43596097	43596097	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr10:43596097C>T	uc001jal.3	+	1	454	c.264C>T	c.(262-264)atC>atT	p.I88I	RET_uc001jak.1_Silent_p.I88I	NM_020975	NP_066124	P07949	RET_HUMAN	Homo sapiens ret proto-oncogene (RET), transcript variant 2, mRNA.	88					homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	GGATCTGCATCCAGGAGGACA	0.647000		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma					6			6		0	0	0.001168	0	0
SACS	26278	broad.mit.edu	37	13	23907395	23907395	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr13:23907395G>A	uc001uon.2	-	9	11209	c.10620C>T	c.(10618-10620)ttC>ttT	p.F3540F	SACS_uc001uoo.2_Silent_p.F3393F|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	Homo sapiens spastic ataxia of Charlevoix-Saguenay (sacsin) (SACS), mRNA.	3540					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|Hsp70 protein binding|chaperone binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TTCTATCATAGAAATGCTTTG	0.299000														12			14		0	0	0.001855	0	0
TMEM132C	92293	broad.mit.edu	37	12	128899718	128899718	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:128899718G>A	uc021rgn.1	+	1	527	c.527G>A	c.(526-528)cGa>cAa	p.R176Q		NM_001136103	NP_001129575	Q8N3T6	T132C_HUMAN	Homo sapiens transmembrane protein 132C (TMEM132C), mRNA.	176						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|lung(2)|prostate(2)|skin(1)	13						TTTGCTTTCCGAGAAACCAGA	0.637000														6			4		0	0	0.000602	0	0
SCG2	7857	broad.mit.edu	37	2	224462720	224462720	+	Silent	SNP	T	G	G			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:224462720T>G	uc021vxk.1	-	0	1281	c.1281A>C	c.(1279-1281)ctA>ctC	p.L427L	SCG2_uc002vnm.3_Silent_p.L427L	NM_003469	NP_003460	P13521	SCG2_HUMAN	Homo sapiens secretogranin II (SCG2), mRNA.	427					MAPKKK cascade|angiogenesis|endothelial cell migration|eosinophil chemotaxis|induction of positive chemotaxis|inflammatory response|negative regulation of apoptosis|negative regulation of endothelial cell proliferation|positive regulation of endothelial cell proliferation|protein secretion	extracellular space|stored secretory granule	chemoattractant activity|cytokine activity			NS(1)|breast(1)|endometrium(1)|kidney(6)|large_intestine(10)|liver(1)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	44		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)		GCCCGTCTGGTAGGGCCTCAG	0.473000														32			32		0	0	0.003271	0	0
C10orf10	11067	broad.mit.edu	37	10	45473304	45473304	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr10:45473304C>T	uc001jbr.4	-	1	465	c.175G>A	c.(175-177)Gcc>Acc	p.A59T	RASSF4_uc001jbo.3_Intron|RASSF4_uc001jbp.3_Intron|RASSF4_uc009xmn.3_Intron|RASSF4_uc001jbq.3_Intron|C10orf10_uc021ppn.1_Missense_Mutation_p.A59T	NM_007021	NP_008952	Q9NTK1	DEPP_HUMAN	Homo sapiens chromosome 10 open reading frame 10 (C10orf10), mRNA.	59						mitochondrion				lung(1)	1						TGGCCCTGGGCCGTGGCCTTG	0.667000														20			12		0	0	0.013537	0	0
CACNA1E	777	broad.mit.edu	37	1	181686331	181686331	+	Missense_Mutation	SNP	T	G	G			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:181686331T>G	uc009wxt.3	+	10	1613	c.1418T>G	c.(1417-1419)gTt>gGt	p.V473G	CACNA1E_uc001gow.3_Missense_Mutation_p.V473G|CACNA1E_uc009wxs.3_Missense_Mutation_p.V473G	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	473					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CGCCACATGGTTAAATCCCAG	0.537000														3			137		0	0	0.014410	0	0
SEMA3G	56920	broad.mit.edu	37	3	52475367	52475367	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:52475367C>T	uc003dea.1	-	6	726	c.726G>A	c.(724-726)aaG>aaA	p.K242K		NM_020163	NP_064548	Q9NS98	SEM3G_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G (SEMA3G), mRNA.	242	Sema.				multicellular organismal development	extracellular region|membrane	receptor activity			kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)	18				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333)		AGAAGTACACCTTGTCATTGT	0.627000														17			7		0	0	0.001984	0	0
MBL1P	8512	broad.mit.edu	37	10	81667602	81667602	+	RNA	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr10:81667602G>A	uc021puw.1	+	2		c.540G>A								Homo sapiens BMS1 homolog, ribosome assembly protein (yeast) pseudogene (LOC100288974), non-coding RNA.																		GCCCTGTGATGATCGTGTCAG	0.483000														20			23		0	0	0.002780	0	0
ZNF516	9658	broad.mit.edu	37	18	74090987	74090987	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr18:74090987G>A	uc021ulp.1	-	3	3401	c.3083C>T	c.(3082-3084)gCc>gTc	p.A1028V	ZNF516_uc002lmd.3_Non-coding_Transcript	NM_014643	NP_055458	Q92618	ZN516_HUMAN	Homo sapiens zinc finger protein 516 (ZNF516), mRNA.	1028					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		GCCGGGCTGGGCCTGCAAGGC	0.701000														17			30		0	0	0.007291	0	0
IGSF21	84966	broad.mit.edu	37	1	18692055	18692055	+	Silent	SNP	G	A	A	rs35594539		TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:18692055G>A	uc001bau.2	+	5	1262	c.879G>A	c.(877-879)ccG>ccA	p.P293P	IGSF21_uc001bav.2_Silent_p.P114P	NM_032880	NP_116269	Q96ID5	IGS21_HUMAN	Homo sapiens immunoglobin superfamily, member 21 (IGSF21), mRNA.	293						extracellular region				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	40		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)		GCCGCACCCCGAGCAGTGACG	0.632000														7			54		0	0	0.014410	0	0
RPA4	29935	broad.mit.edu	37	X	96139537	96139537	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:96139537C>T	uc004efv.4	+	0	631	c.228C>T	c.(226-228)atC>atT	p.I76I	DIAPH2_uc004eft.4_Intron|DIAPH2_uc004efu.4_Intron|DIAPH2_uc004efs.2_Intron	NM_013347	NP_037479	Q13156	RFA4_HUMAN	Homo sapiens replication protein A4, 30kDa (RPA4), mRNA.	76					DNA damage checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair	DNA replication factor A complex|nucleoplasm	single-stranded DNA binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	13						AGGTCTCCATCGTGGGGGTAA	0.468000								Other identified genes with known or suspected DNA repair function						17			11		0	0	0.008291	0	0
HEATR5A	25938	broad.mit.edu	37	14	31762523	31762523	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr14:31762523G>A	uc001wrf.4	-	35	6314	c.6129C>T	c.(6127-6129)acC>acT	p.T2043T	HEATR5A_uc010ami.3_Silent_p.T1573T	NM_015473	NP_056288	Q86XA9	HTR5A_HUMAN	Homo sapiens HEAT repeat containing 5A (HEATR5A), mRNA.	2037							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		AGAGGAAACTGGTCTTTAATT	0.353000														50			46		0	0	0.014410	0	0
UBR4	23352	broad.mit.edu	37	1	19445392	19445392	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:19445392G>A	uc001bbi.3	-	70	10519	c.10515C>T	c.(10513-10515)acC>acT	p.T3505T	UBR4_uc001bbj.1_5'Flank	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 4 (UBR4), mRNA.	3505					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TGGGGTGGTTGGTAAGAATAT	0.423000														6			44		0	0	0.014410	0	0
LOC728989	728989	broad.mit.edu	37	1	146494537	146494537	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:146494537C>T	uc001epd.2	-	3	536	c.462G>A	c.(460-462)gcG>gcA	p.A154A						Homo sapiens phosphodiesterase 4D interacting protein pseudogene (LOC728989), non-coding RNA.																		TTGGCAGGGCCGCTCTCCAGA	0.567000														25			6		0	0	0.006214	0	0
CPN2	1370	broad.mit.edu	37	3	194063279	194063279	+	Silent	SNP	C	T	T	rs141207947		TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:194063279C>T	uc003fts.3	-	1	243	c.153G>A	c.(151-153)acG>acA	p.T51T	CPN2_uc021xix.1_Silent_p.T51T	NM_001080513	NP_001073982	P22792	CPN2_HUMAN	Homo sapiens carboxypeptidase N, polypeptide 2 (CPN2), mRNA.	51					protein stabilization	extracellular region	enzyme regulator activity	p.T51T(2)		breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1)	27	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.65e-05)		TGATGTTTTTCGTATATGGCG	0.537000														58			31		0	0	0.012213	0	0
FAT2	2196	broad.mit.edu	37	5	150920164	150920164	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:150920164G>A	uc003lue.4	-	9	9016	c.9003C>T	c.(9001-9003)gtC>gtT	p.V3001V		NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA.	3001	Cadherin 26.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGACGTCCAGGACAAAGATCT	0.547000														12			10		0	0	0.010729	0	0
OR52E6	390078	broad.mit.edu	37	11	5862509	5862509	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:5862509G>A	uc010qzq.2	-	0	619	c.619C>T	c.(619-621)Ctc>Ttc	p.L207F	TRIM5_uc001mbq.1_Intron	NM_001005167	NP_001005167	Q96RD3	O52E6_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily E, member 6 (OR52E6), mRNA.	207					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AATAACAAGAGAGAAATACTG	0.473000														36			21		0	0	0.008871	0	0
KIAA1324	57535	broad.mit.edu	37	1	109731707	109731707	+	Silent	SNP	A	G	G			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:109731707A>G	uc021orb.1	+	9	1460	c.1239A>G	c.(1237-1239)gcA>gcG	p.A413A	KIAA1324_uc009wex.2_Silent_p.A363A|KIAA1324_uc010ovg.2_Silent_p.A311A|KIAA1324_uc009wey.3_Silent_p.A326A|KIAA1324_uc001dwr.3_Silent_p.A63A	NM_020775	NP_065826	Q6UXG2	K1324_HUMAN	Homo sapiens KIAA1324 (KIAA1324), mRNA.	413					macroautophagy|positive regulation of vacuole organization|regulation of apoptosis	integral to plasma membrane				NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)		GCTGCCCTGCAGGGACTGAAC	0.532000														7			65		0	0	0.014410	0	0
TRIM31	11074	broad.mit.edu	37	6	30075858	30075858	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr6:30075858G>A	uc003npg.1	-	5	965	c.855C>T	c.(853-855)tcC>tcT	p.S285S	TRIM31_uc003npi.3_Non-coding_Transcript	NM_007028	NP_008959	Q9BZY9	TRI31_HUMAN	Homo sapiens tripartite motif containing 31 (TRIM31), mRNA.	285						mitochondrion	ligase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(2)	15						TCCCTGTGATGGAGTCATGTC	0.428000														52			9		0	0	0.004007	0	0
TRBV7-6	28592	broad.mit.edu	37	7	142139554	142139554	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:142139554G>A	uc003vyt.3	-	1	116	c.71C>T	c.(70-72)tCc>tTc	p.S24F	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|TRBV7-6_uc011krv.1_5'Flank					SubName: Full=V_segment translation product; Flags: Fragment;																		GGGAGACTGGGAGACTCCAGC	0.478000														22			43		0	0	0.014410	0	0
LYG2	254773	broad.mit.edu	37	2	99860512	99860512	+	Missense_Mutation	SNP	T	C	C			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:99860512T>C	uc002szw.1	-	4	583	c.470A>G	c.(469-471)aAg>aGg	p.K157R	MRPL30_uc002szl.1_Intron|LYG2_uc010fip.1_Missense_Mutation_p.K157R|LYG2_uc002szx.1_Missense_Mutation_p.K157R	NM_175735	NP_783862	Q86SG7	LYG2_HUMAN	Homo sapiens lysozyme G-like 2 (LYG2), mRNA.	157					cell wall macromolecule catabolic process|peptidoglycan catabolic process	extracellular region	lysozyme activity	p.I156N(1)		large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)|stomach(1)	12						CTGGATTGCCTTAATTCTCTC	0.438000														34			16		0	0	0.007413	0	0
TXLNB	167838	broad.mit.edu	37	6	139563669	139563669	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr6:139563669G>A	uc021zfy.1	-	9	2214	c.2049C>T	c.(2047-2049)gtC>gtT	p.V683V		NM_153235	NP_694967	Q8N3L3	TXLNB_HUMAN	Homo sapiens taxilin beta (TXLNB), mRNA.	683						cytoplasm				breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37				OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)		AGGCTTAGTCGACGCCTTCCA	0.582000														4			15		0	0	0.004007	0	0
TTN	7273	broad.mit.edu	37	2	179658259	179658259	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:179658259C>T	uc021vsy.1	-	8	1633	c.1408G>A	c.(1408-1410)Gaa>Aaa	p.E470K	TTN_uc021vsz.1_Missense_Mutation_p.E470K|TTN_uc021vta.1_Missense_Mutation_p.E470K|TTN_uc021vtb.1_Missense_Mutation_p.E470K|TTN_uc002unb.2_Missense_Mutation_p.E470K|TTN_uc010frg.1_Missense_Mutation_p.E144K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	470							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)			TTCTCCGCTTCCTTTCTTACC	0.398000														29			32		0	0	0.003271	0	0
SARDH	1757	broad.mit.edu	37	9	136584143	136584143	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr9:136584143G>A	uc004cep.4	-	6	1071	c.937C>T	c.(937-939)Cat>Tat	p.H313Y	SARDH_uc004ceo.3_Missense_Mutation_p.H313Y|SARDH_uc011mdo.2_Missense_Mutation_p.H145Y|SARDH_uc011mdn.2_Missense_Mutation_p.H313Y	NM_001134707	NP_009032	Q9UL12	SARDH_HUMAN	Homo sapiens sarcosine dehydrogenase (SARDH), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	313					glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		GAGGCATCATGATCACGGACA	0.597000														5			25		0	0	0.010818	0	0
ASIC2	40	broad.mit.edu	37	17	32483453	32483453	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr17:32483453G>A	uc002hhu.3	-	0	373	c.99C>T	c.(97-99)ttC>ttT	p.F33F		NM_001094	NP_001085	Q16515	ACCN1_HUMAN	Homo sapiens amiloride-sensitive cation channel 1, neuronal (ACCN1), transcript variant MDEG1, mRNA.	33					central nervous system development|peripheral nervous system development|synaptic transmission	integral to plasma membrane	ligand-gated sodium channel activity|protein binding									Amiloride(DB00594)	GCCCATACACGAAGATGTGGC	0.612000														13			15		0	0	0.004990	0	0
ARID2	196528	broad.mit.edu	37	12	46244787	46244787	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:46244787C>T	uc001ros.1	+	14	2881	c.2881C>T	c.(2881-2883)Cag>Tag	p.Q961*	ARID2_uc001ror.3_Nonsense_Mutation_p.Q961*|ARID2_uc009zkg.1_Nonsense_Mutation_p.Q417*|ARID2_uc009zkh.1_Nonsense_Mutation_p.Q588*|ARID2_uc001rou.1_Nonsense_Mutation_p.Q295*	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	Homo sapiens AT rich interactive domain 2 (ARID, RFX-like) (ARID2), mRNA.	961	Gln-rich.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		TCAGACAGTTCAGCTAACTGG	0.483000			"""N, S, F"""		hepatocellular carcinoma									47			36		0	0	0.004878	0	0
ZDHHC7	55625	broad.mit.edu	37	16	85024132	85024132	+	Silent	SNP	G	A	A	rs138250474		TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr16:85024132G>A	uc010voi.1	-	2	446	c.93C>T	c.(91-93)tcC>tcT	p.S31S	ZDHHC7_uc002fiq.2_Silent_p.S31S|ZDHHC7_uc002fir.1_Non-coding_Transcript	NM_001145548	NP_001139020	Q9NXF8	ZDHC7_HUMAN	Homo sapiens zinc finger, DHHC-type containing 7 (ZDHHC7), transcript variant 1, mRNA.	31						integral to membrane	acyltransferase activity|protein binding|zinc ion binding			large_intestine(6)|lung(4)	10						CGTCAGCCTCGGAGGAGGAGG	0.577000														13			18		0	0	0.004990	0	0
PCCB	5096	broad.mit.edu	37	3	136035827	136035827	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:136035827C>T	uc011bmc.2	+	10	1122	c.1071C>T	c.(1069-1071)gcC>gcT	p.A357A	PCCB_uc003eqz.1_Silent_p.A337A|PCCB_uc003eqy.2_Silent_p.A337A|PCCB_uc011bmd.1_Silent_p.A254A	NM_001178014	NP_001171485	P05166	PCCB_HUMAN	Homo sapiens propionyl CoA carboxylase, beta polypeptide (PCCB), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	337	Acyl-CoA binding (Potential).|Carboxyltransferase.				fatty acid beta-oxidation	mitochondrial matrix	ATP binding|propionyl-CoA carboxylase activity			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|urinary_tract(1)	25					Biotin(DB00121)|L-Valine(DB00161)	CCAATTATGCCAAGAACATCA	0.398000														70			56		0	0	0.014410	0	0
HS3ST3A1	9955	broad.mit.edu	37	17	13399989	13399989	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr17:13399989G>A	uc002gob.1	-	1	1544	c.746C>T	c.(745-747)gCc>gTc	p.A249V		NM_006042	NP_006033	Q9Y663	HS3SA_HUMAN	Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 3A1 (HS3ST3A1), mRNA.	249						Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 3 activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_lung(20;0.114)		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		GTCCGAGATGGCCCTGGTCAC	0.642000														50			8		0	0	0.004990	0	0
HCAR1	27198	broad.mit.edu	37	12	123214031	123214031	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:123214031G>A	uc001ucz.3	-	0	1099	c.856C>T	c.(856-858)Ccc>Tcc	p.P286S	HCAR1_uc001ucw.1_Non-coding_Transcript	NM_032554	NP_115943	Q9BXC0	HCAR1_HUMAN	Homo sapiens hydroxycarboxylic acid receptor 1 (HCAR1), mRNA.	286					response to estradiol stimulus	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(1)|kidney(1)|lung(1)|ovary(1)|pancreas(1)|skin(1)	10						TAGAATTTGGGAAAGGAGGGG	0.498000														69			58		0	0	0.014410	0	0
PPP4R4	57718	broad.mit.edu	37	14	94708700	94708700	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr14:94708700C>T	uc001ycs.1	+	10	1375	c.1221C>T	c.(1219-1221)gaC>gaT	p.D407D		NM_058237	NP_478144	Q6NUP7	PP4R4_HUMAN	Homo sapiens protein phosphatase 4, regulatory subunit 4 (PPP4R4), transcript variant 1, mRNA.	407						cytoplasm|protein serine/threonine phosphatase complex	protein binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						TTTGCCATGACCCTGAAGTAC	0.388000														66			68		0	0	0.014410	0	0
ITGB4	3691	broad.mit.edu	37	17	73725384	73725384	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr17:73725384C>T	uc002jpg.3	+	6	792	c.605C>T	c.(604-606)tCc>tTc	p.S202F	ITGB4_uc002jph.3_Missense_Mutation_p.S202F|ITGB4_uc010dgo.3_Missense_Mutation_p.S202F|ITGB4_uc002jpi.4_Missense_Mutation_p.S202F|ITGB4_uc010dgp.1_Missense_Mutation_p.S202F|ITGB4_uc002jpj.3_Missense_Mutation_p.S202F|ITGB4_uc010wsh.1_5'Flank	NM_000213	NP_000204	P16144	ITB4_HUMAN	Homo sapiens integrin, beta 4 (ITGB4), transcript variant 1, mRNA.	202	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	p.F201fs*9(1)		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)			CCCCCCTTCTCCTTCAAGAAC	0.612000														28			25		0	0	0.005443	0	0
SPANXN2	494119	broad.mit.edu	37	X	142795202	142795202	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:142795202C>T	uc004fbz.3	-	1	1230	c.476G>A	c.(475-477)gGa>gAa	p.G159E		NM_001009615	NP_001009615	Q5MJ10	SPXN2_HUMAN	Homo sapiens SPANX family, member N2 (SPANXN2), mRNA.	159										NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					CTGTGAAGATCCTTCAGGTGG	0.502000														294			455		0	0	0.014410	0	0
NHS	4810	broad.mit.edu	37	X	17744328	17744328	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:17744328C>T	uc011mix.2	+	6	2440	c.2102C>T	c.(2101-2103)tCc>tTc	p.S701F	NHS_uc004cxx.3_Missense_Mutation_p.S680F|NHS_uc004cxy.3_Missense_Mutation_p.S524F|NHS_uc004cxz.3_Missense_Mutation_p.S503F|NHS_uc004cya.3_Missense_Mutation_p.S403F	NM_001136024	NP_001129496	Q6T4R5	NHS_HUMAN	Homo sapiens Nance-Horan syndrome (congenital cataracts and dental anomalies) (NHS), transcript variant 2, mRNA.	680						nucleus				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					CGGGCAAACTCCTTTACCTCC	0.498000														127			90		0	0	0.014410	0	0
FILIP1	27145	broad.mit.edu	37	6	76022383	76022383	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr6:76022383G>A	uc010kbe.3	-	5	3704	c.3174C>T	c.(3172-3174)tcC>tcT	p.S1058S	FILIP1_uc003phy.1_Silent_p.S1055S|FILIP1_uc003phz.3_Silent_p.S956S|FILIP1_uc003pia.3_Silent_p.S1055S|FILIP1_uc003pib.1_Silent_p.S807S	NM_015687	NP_056502	Q7Z7B0	FLIP1_HUMAN	Homo sapiens filamin A interacting protein 1 (FILIP1), mRNA.	1055										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						TATTGGCATTGGAGTTGTATT	0.468000														17			95		0	0	0.014410	0	0
DSCAM	1826	broad.mit.edu	37	21	41711223	41711223	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr21:41711223C>T	uc002yyq.1	-	6	1782	c.1330G>A	c.(1330-1332)Gat>Aat	p.D444N	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	444	Ig-like C2-type 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)				ATCGGGTCATCGTCCAGGGTC	0.567000														20			12		0	0	0.002450	0	0
TEKT1	83659	broad.mit.edu	37	17	6719154	6719154	+	Splice_Site	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr17:6719154G>A	uc002gdt.3	-	4	595	c.485_splice	c.e4+1	p.R162_splice	TEKT1_uc010vth.2_Splice_Site_p.R16_splice	NM_053285	NP_444515	Q969V4	TEKT1_HUMAN	Homo sapiens tektin 1 (TEKT1), mRNA.	162					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20		Myeloproliferative disorder(207;0.0255)				GAGTCATACCGAATCTGCTCG	0.532000														17			26		0	0	0.008361	0	0
DSG3	1830	broad.mit.edu	37	18	29056114	29056114	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr18:29056114G>A	uc002kws.3	+	15	3000	c.2891G>A	c.(2890-2892)aGg>aAg	p.R964K	DSG3_uc002kwt.3_Missense_Mutation_p.R246K	NM_001944	NP_001935	P32926	DSG3_HUMAN	Homo sapiens desmoglein 3 (DSG3), mRNA.	964					cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			GTGACAGAAAGGGTGATCTGT	0.502000														58			36		0	0	0.004878	0	0
ADAD2	161931	broad.mit.edu	37	16	84229435	84229435	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr16:84229435C>T	uc002fhq.2	+	7	1427	c.1313C>T	c.(1312-1314)tCg>tTg	p.S438L	ADAD2_uc002fhr.2_Missense_Mutation_p.S356L|AK123582_uc002fhs.1_Intron	NM_139174	NP_631913	Q8NCV1	ADAD2_HUMAN	Homo sapiens adenosine deaminase domain containing 2 (ADAD2), transcript variant 1, mRNA.	356	A to I editase.				RNA processing	intracellular	adenosine deaminase activity|double-stranded RNA binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(1)	13						CCCCCCACCTCGGAAGGTGGC	0.706000														10			12		0	0	0.007413	0	0
RPL32P3	132241	broad.mit.edu	37	3	129115991	129115991	+	RNA	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:129115991G>A	uc003eme.1	-	0		c.807C>T			RPL32P3_uc003ema.3_Intron|RPL32P3_uc003emb.3_Intron|RPL32P3_uc003emd.1_Intron					Homo sapiens ribosomal protein L32 pseudogene 3 (RPL32P3), non-coding RNA.											lung(1)	1						TGCCTTTTGGGGAAGAAGTAG	0.532000														71			66		0	0	0.014410	0	0
C3orf72	401089	broad.mit.edu	37	3	138669293	138669293	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:138669293G>A	uc003esx.1	+	2	538	c.407G>A	c.(406-408)cGa>cAa	p.R136Q	AK304483_uc011bmr.2_3'UTR	NM_001040061	NP_001035150	Q6ZUU3	CC072_HUMAN	Homo sapiens chromosome 3 open reading frame 72 (C3orf72), mRNA.	136										large_intestine(1)|lung(3)	4						GCGGGACCCCGAAACACCCGG	0.657000														18			11		0	0	0.010729	0	0
GRIP1	23426	broad.mit.edu	37	12	66765699	66765699	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:66765699G>A	uc001stk.3	-	21	2872	c.2631C>T	c.(2629-2631)atC>atT	p.I877I	GRIP1_uc010sta.1_Silent_p.I821I|GRIP1_uc001stj.3_Silent_p.I644I|GRIP1_uc001stm.3_Silent_p.I862I|GRIP1_uc001stl.1_Silent_p.I754I	NM_021150	NP_066973	Q9Y3R0	GRIP1_HUMAN	Homo sapiens glutamate receptor interacting protein 1 (GRIP1), transcript variant 1, mRNA.	929					androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity	p.I877V(1)		NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		TCCCCGACATGATTGTTGCCT	0.527000														41			30		0	0	0.010818	0	0
ARHGEF7	8874	broad.mit.edu	37	13	111768020	111768020	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr13:111768020C>T	uc001vrs.2	+	0	397	c.147C>T	c.(145-147)ctC>ctT	p.L49L	ARHGEF7_uc001vrr.2_Silent_p.L49L|ARHGEF7_uc001vrt.2_Silent_p.L49L	NM_001113511	NP_001106983	Q14155	ARHG7_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 7 (ARHGEF7), transcript variant 3, mRNA.	49	CH.				apoptosis|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity|protein binding			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	41	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.188)			AGCGCCTGCTCCCCGGGACCA	0.721000														8			6		0	0	0.001168	0	0
SH3TC1	54436	broad.mit.edu	37	4	8229215	8229215	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr4:8229215C>T	uc003gkv.4	+	11	1895	c.1794C>T	c.(1792-1794)ttC>ttT	p.F598F	SH3TC1_uc003gkw.4_Silent_p.F522F|SH3TC1_uc003gkx.4_Non-coding_Transcript|SH3TC1_uc003gky.3_5'Flank	NM_018986	NP_061859	Q8TE82	S3TC1_HUMAN	Homo sapiens SH3 domain and tetratricopeptide repeats 1 (SH3TC1), mRNA.	598							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						GGGACCTGTTCCTAGTGGTGG	0.642000														4			79		0	0	0.014410	0	0
ZNF34	80778	broad.mit.edu	37	8	145998914	145998914	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr8:145998914G>A	uc003zdy.4	-	5	1522	c.1420C>T	c.(1420-1422)Ccc>Tcc	p.P474S	ZNF34_uc010mgb.3_Missense_Mutation_p.P371S|ZNF34_uc003zdx.4_Missense_Mutation_p.P453S	NM_030580	NP_085057	Q8IZ26	ZNF34_HUMAN	Homo sapiens zinc finger protein 34 (ZNF34), mRNA.	474					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(1)	11	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.221)	OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;5.18e-38)|all cancers(56;4.41e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.0179)		CACTTGTAGGGCTTCTCTCCT	0.537000														15			22		0	0	0.003954	0	0
PAQR5	54852	broad.mit.edu	37	15	69652437	69652438	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr15:69652437_69652438CC>TT	uc002arz.2	+	2	396_397	c.18_19CC>TT	c.(16-21)ctcccc>ctTTcc	p.P7S	PAQR5_uc002asa.2_Missense_Mutation_p.P7S	NM_017705	NP_060175	Q9NXK6	MPRG_HUMAN	Homo sapiens progestin and adipoQ receptor family member V (PAQR5), transcript variant 2, mRNA.	7					cell differentiation|multicellular organismal development|oogenesis	integral to membrane	receptor activity|steroid binding			endometrium(3)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|skin(1)	11						GCCTGAAGCTCCCCAGGCTGTT	0.550000														37			27		0	0	0.004672	0	0
LOC729862	729862	broad.mit.edu	37	5	28927157	28927157	+	RNA	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:28927157G>A	uc003jgz.1	+	0		c.181G>A								Homo sapiens striatin, calmodulin binding protein pseudogene (LOC729862), non-coding RNA.																		CTTCCTACAGGGAGAAAGGAA	0.458000														15			4		0	0	0.002450	0	0
SAMHD1	25939	broad.mit.edu	37	20	35547838	35547838	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr20:35547838G>A	uc002xgh.2	-	6	981	c.781C>T	c.(781-783)Cct>Tct	p.P261S		NM_015474	NP_056289	Q9Y3Z3	SAMH1_HUMAN	Homo sapiens SAM domain and HD domain 1 (SAMHD1), mRNA.	261	HD.				defense response to virus|innate immune response|regulation of innate immune response	nucleus	metal ion binding|phosphoric diester hydrolase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	20		Myeloproliferative disorder(115;0.00878)				TCTTCTTCAGGGATGAGACCA	0.348000														33			24		0	0	0.003330	0	0
ESYT3	83850	broad.mit.edu	37	3	138170893	138170893	+	Missense_Mutation	SNP	C	T	T	rs143292701	byFrequency	TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:138170893C>T	uc003esk.3	+	1	557	c.331C>T	c.(331-333)Cac>Tac	p.H111Y	ESYT3_uc010hug.2_Non-coding_Transcript	NM_031913	NP_114119	A0FGR9	ESYT3_HUMAN	Homo sapiens extended synaptotagmin-like protein 3 (ESYT3), mRNA.	111						integral to membrane|plasma membrane				breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	25						TTCCTAGATCCACTTCCCGGA	0.672000														97			85		0	0	0.014410	0	0
AHNAK2	113146	broad.mit.edu	37	14	105415687	105415687	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr14:105415687G>A	uc010axc.1	-	6	6221	c.6101C>T	c.(6100-6102)aCt>aTt	p.T2034I	AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Missense_Mutation_p.T1934I	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	2034						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GCTGAGGTCAGTGGTCTTCAG	0.667000														38			67		0	0	0.014410	0	0
HTR1A	3350	broad.mit.edu	37	5	63256305	63256305	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:63256305G>A	uc011cqt.2	-	0	1242	c.1242C>T	c.(1240-1242)atC>atT	p.I414I		NM_000524	NP_000515	P08908	5HT1A_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 1A (HTR1A), mRNA.	414					behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity	p.I414I(2)		cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	TACACTTAATGATCTTCTTAA	0.507000														120			89		0	0	0.014410	0	0
STARD13	90627	broad.mit.edu	37	13	33701591	33701591	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr13:33701591C>T	uc001uuw.3	-	5	1967	c.1841G>A	c.(1840-1842)aGc>aAc	p.S614N	STARD13_uc001uuu.3_Missense_Mutation_p.S606N|STARD13_uc001uuv.3_Missense_Mutation_p.S496N|STARD13_uc001uux.3_Missense_Mutation_p.S579N|STARD13_uc010abh.1_Missense_Mutation_p.S599N|STARD13_uc021rhz.1_Missense_Mutation_p.S606N|STARD13_uc021ria.1_Missense_Mutation_p.S496N	NM_178006	NP_443083	Q9Y3M8	STA13_HUMAN	Homo sapiens StAR-related lipid transfer (START) domain containing 13 (STARD13), transcript variant 1, mRNA.	614					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		CTGGAGCAGGCTCAGCTGGCT	0.627000														4			3		0	0	0.004672	0	0
TLN1	7094	broad.mit.edu	37	9	35704686	35704686	+	Missense_Mutation	SNP	C	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr9:35704686C>A	uc003zxt.2	-	43	6214	c.5860G>T	c.(5860-5862)Gcc>Tcc	p.A1954S		NM_006289	NP_006280	Q9Y490	TLN1_HUMAN	Homo sapiens talin 1 (TLN1), mRNA.	1954					axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	LIM domain binding|actin binding|insulin receptor binding|structural constituent of cytoskeleton|vinculin binding			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			ACTCTCCGGGCACACTCTATG	0.612000														22			19		7.41877e-09	1.00184e-08	0.012319	1	0
SEPT14	346288	broad.mit.edu	37	7	55914298	55914298	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:55914298C>T	uc003tqz.2	-	2	204	c.87G>A	c.(85-87)acG>acA	p.T29T		NM_207366	NP_997249	Q6ZU15	SEP14_HUMAN	Homo sapiens septin 14 (SEPT14), mRNA.	29					cell cycle|cell division	septin complex	GTP binding|protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|skin(2)	23	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			AATGTCCAATCGTAGTTAAAC	0.299000														39			95		0	0	0.014410	0	0
MOSPD1	56180	broad.mit.edu	37	X	134030969	134030969	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:134030969C>T	uc004eyb.3	-	3	513	c.326G>A	c.(325-327)gGa>gAa	p.G109E	MOSPD1_uc004eya.3_Missense_Mutation_p.G109E|MOSPD1_uc010nrv.3_Non-coding_Transcript|MOSPD1_uc011mvr.2_Missense_Mutation_p.G109E	NM_019556	NP_062456	Q9UJG1	MSPD1_HUMAN	Homo sapiens motile sperm domain containing 1 (MOSPD1), mRNA.	109	MSP.				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter	integral to membrane|nucleus|perinuclear region of cytoplasm	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(1)|ovary(1)	9	Acute lymphoblastic leukemia(192;0.000127)					CTCTTTTCTTCCCAAAGCCTT	0.388000														146			75		0	0	0.014410	0	0
PIGG	54872	broad.mit.edu	37	4	515512	515512	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr4:515512C>T	uc003gak.4	+	7	1532	c.1396C>T	c.(1396-1398)Cca>Tca	p.P466S	PIGG_uc003gaj.4_Missense_Mutation_p.P458S|PIGG_uc011bux.2_Non-coding_Transcript|PIGG_uc010ibf.3_Missense_Mutation_p.P333S|PIGG_uc003gal.4_Missense_Mutation_p.P377S|PIGG_uc011buw.2_Silent_p.S328S|PIGG_uc003gam.3_3'UTR|PIGG_uc003gan.3_Missense_Mutation_p.P377S	NM_001127178	NP_001120650	Q5H8A4	PIGG_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class G (PIGG), transcript variant 1, mRNA.	466					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	CP2 mannose-ethanolamine phosphotransferase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	39						GCTGGAAGTCCCACTGTCATC	0.537000														20			18		0	0	0.010504	0	0
L1CAM	3897	broad.mit.edu	37	X	153135271	153135271	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:153135271C>T	uc004fjb.3	-	8	1218	c.1110G>A	c.(1108-1110)ggG>ggA	p.G370G	L1CAM_uc004fjc.3_Silent_p.G370G|L1CAM_uc010nuo.3_Silent_p.G365G|L1CAM_uc004fjd.1_Silent_p.G184G	NM_000425	NP_000416	P32004	L1CAM_HUMAN	Homo sapiens L1 cell adhesion molecule (L1CAM), transcript variant 1, mRNA.	370	Ig-like C2-type 4.		G -> R (in HSAS, MASA and SPG1).		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)					CCACAGGGATCCCGTTGATTC	0.652000														37			6		0	0	0.001984	0	0
DOCK3	1795	broad.mit.edu	37	3	51266125	51266125	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:51266125C>T	uc011bds.2	+	17	1704	c.1681C>T	c.(1681-1683)Ctg>Ttg	p.L561L		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	Homo sapiens dedicator of cytokinesis 3 (DOCK3), mRNA.	561	DHR-1.					cytoplasm	GTP binding|GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		TAACCATGCTCTGTACCTGGG	0.468000														18			19		0	0	0.008871	0	0
POU3F4	5456	broad.mit.edu	37	X	82763472	82763472	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:82763472C>T	uc004eeg.2	+	0	204	c.140C>T	c.(139-141)cCc>cTc	p.P47L		NM_000307	NP_000298	P49335	PO3F4_HUMAN	Homo sapiens POU class 3 homeobox 4 (POU3F4), mRNA.	47					sensory perception of sound	nucleus	sequence-specific DNA binding transcription factor activity	p.P47T(1)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	37						CAGGGAGTTCCCAGCAATGGG	0.622000														11			10		0	0	0.008291	0	0
PIGZ	80235	broad.mit.edu	37	3	196675001	196675001	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:196675001C>T	uc003fxh.3	-	2	914	c.767G>A	c.(766-768)cGg>cAg	p.R256Q		NM_025163	NP_079439	Q86VD9	PIGZ_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class Z (PIGZ), mRNA.	256					GPI anchor biosynthetic process	integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,2-mannosyltransferase activity			breast(1)|endometrium(1)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	14	all_cancers(143;1.05e-08)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.29e-24)|all cancers(36;2.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00603)		CAGGGCCTCCCGGGTCAGAGA	0.622000														7			12		0	0	0.001855	0	0
PCNXL2	80003	broad.mit.edu	37	1	233134073	233134073	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:233134073C>T	uc001hvl.2	-	31	5950	c.5715G>A	c.(5713-5715)caG>caA	p.Q1905Q	PCNXL2_uc001hvk.1_Silent_p.Q557Q|PCNXL2_uc001hvm.1_Non-coding_Transcript	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	Homo sapiens pecanex-like 2 (Drosophila) (PCNXL2), transcript variant 1, mRNA.	1905						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				CGCTGCTCTCCTGGCTGCCAC	0.627000														1			57		0	0	0.014410	0	0
SFXN4	119559	broad.mit.edu	37	10	120917536	120917536	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr10:120917536G>A	uc001leb.3	-	6	444	c.399C>T	c.(397-399)tcC>tcT	p.S133S	SFXN4_uc001ldy.3_Silent_p.S17S|SFXN4_uc001lea.3_Non-coding_Transcript	NM_213649	NP_998814	Q6P4A7	SFXN4_HUMAN	Homo sapiens sideroflexin 4 (SFXN4), mRNA.	133					iron ion homeostasis	integral to membrane|mitochondrial membrane	cation transmembrane transporter activity			central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	11		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0261)		GTAAAATCACGGACTTGATCC	0.428000														40			24		0	0	0.005443	0	0
OR4Q3	441669	broad.mit.edu	37	14	20216380	20216380	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr14:20216380G>A	uc010tkt.2	+	0	794	c.794G>A	c.(793-795)aGc>aAc	p.S265N		NM_172194	NP_751944	Q8NH05	OR4Q3_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily Q, member 3 (OR4Q3), mRNA.	265					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CCTTTCTGCAGCTTCTCTGTG	0.453000														134			57		0	0	0.014410	0	0
CLPB	81570	broad.mit.edu	37	11	72012885	72012885	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:72012885G>A	uc001osj.3	-	11	1431	c.1381C>T	c.(1381-1383)Cca>Tca	p.P461S	CLPB_uc010rqx.2_Missense_Mutation_p.P416S|CLPB_uc010rqy.2_Missense_Mutation_p.P402S|CLPB_uc001osk.3_Missense_Mutation_p.P431S|CLPB_uc010rqz.2_Missense_Mutation_p.P260S|CLPB_uc001osi.3_Missense_Mutation_p.P69S	NM_030813	NP_110440	Q9H078	CLPB_HUMAN	Homo sapiens ClpB caseinolytic peptidase B homolog (E. coli) (CLPB), mRNA.	461					cellular response to heat		ATP binding|nucleoside-triphosphatase activity|protein binding			endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	19						AGCACATCTGGATGGGCCTTG	0.562000														235			205		0	0	0.014410	0	0
SFTPD	6441	broad.mit.edu	37	10	81701771	81701771	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr10:81701771G>A	uc001kbh.3	-	4	532	c.489C>T	c.(487-489)ggC>ggT	p.G163G		NM_003019	NP_003010	P35247	SFTPD_HUMAN	Homo sapiens surfactant protein D (SFTPD), mRNA.	163	Collagen-like.				cell junction assembly|innate immune response|lung alveolus development|macrophage chemotaxis|negative regulation of T cell proliferation|negative regulation of interleukin-2 biosynthetic process|positive regulation of phagocytosis|reactive oxygen species metabolic process|receptor-mediated endocytosis|respiratory gaseous exchange|surfactant homeostasis	collagen|endocytic vesicle|extracellular space|lysosome	bacterial cell surface binding|protein binding|sugar binding			endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|skin(4)|urinary_tract(1)	17	Breast(12;0.000615)|Prostate(51;0.0095)|all_epithelial(25;0.027)		Epithelial(14;0.0244)|all cancers(16;0.0558)|Colorectal(32;0.109)			CTCCCTTAGGGCCTGCGAGGC	0.617000														42			28		0	0	0.005443	0	0
PNLIP	5406	broad.mit.edu	37	10	118320013	118320013	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr10:118320013C>T	uc001lcm.3	+	10	1189	c.1146C>T	c.(1144-1146)aaC>aaT	p.N382N		NM_000936	NP_000927	P16233	LIPP_HUMAN	Homo sapiens pancreatic lipase (PNLIP), mRNA.	382	PLAT.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	extracellular region	retinyl-palmitate esterase activity|triglyceride lipase activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	43				all cancers(201;0.0131)	Bentiromide(DB00522)|Orlistat(DB01083)	ATAAAGGAAACTCTAAGCAGT	0.378000														19			9		0	0	0.006214	0	0
OR52R1	119695	broad.mit.edu	37	11	4824732	4824732	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:4824732G>A	uc021qcs.1	-	0	879	c.879C>T	c.(877-879)atC>atT	p.I293I		NM_001005177	NP_001005177	Q8NGF1	O52R1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily R, member 1 (OR52R1), mRNA.	293					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3)	29		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTCCATAAATGATGGGGTTGA	0.473000														71			49		0	0	0.014410	0	0
SLC4A8	9498	broad.mit.edu	37	12	51888738	51888738	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:51888738C>T	uc001rys.1	+	20	2957	c.2779C>T	c.(2779-2781)Cgt>Tgt	p.R927C	SLC4A8_uc001rym.3_Missense_Mutation_p.R874C|SLC4A8_uc001ryn.3_Missense_Mutation_p.R874C|SLC4A8_uc001ryo.2_Missense_Mutation_p.R874C|SLC4A8_uc010snj.2_Missense_Mutation_p.R954C|SLC4A8_uc001ryr.3_Missense_Mutation_p.R927C	NM_001039960	NP_001035049	Q2Y0W8	S4A8_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 8 (SLC4A8), transcript variant 1, mRNA.	927					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)		GTTCTTTGATCGTCTAAAGCT	0.478000														22			26		0	0	0.006320	0	0
KCNMA1	3778	broad.mit.edu	37	10	78850189	78850189	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr10:78850189C>T	uc001jxn.3	-	9	1480	c.1303G>A	c.(1303-1305)Gac>Aac	p.D435N	KCNMA1_uc021ptu.1_Missense_Mutation_p.D381N|KCNMA1_uc001jxj.2_Missense_Mutation_p.D435N|KCNMA1_uc001jxk.1_Missense_Mutation_p.D50N|KCNMA1_uc009xrt.1_Missense_Mutation_p.D255N|KCNMA1_uc001jxl.1_Missense_Mutation_p.D89N|KCNMA1_uc001jxo.3_Missense_Mutation_p.D435N|KCNMA1_uc001jxm.3_Missense_Mutation_p.D435N|KCNMA1_uc001jxq.3_Missense_Mutation_p.D435N	NM_001161352	NP_001154824	Q12791	KCMA1_HUMAN	Homo sapiens potassium large conductance calcium-activated channel, subfamily M, alpha member 1 (KCNMA1), transcript variant 3, mRNA.	435	RCK N-terminal.				cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	ACATTGACGTCATCCCGGTCC	0.522000														34			40		0	0	0.009718	0	0
ZNF197	10168	broad.mit.edu	37	3	44685209	44685209	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:44685209G>A	uc003cnm.3	+	5	2793	c.2587G>A	c.(2587-2589)Gaa>Aaa	p.E863K	ZNF197_uc003cnn.3_Intron|ZNF197_uc003cno.3_Intron|ZNF197_uc003cnp.3_Intron	NM_006991	NP_008922	O14709	ZN197_HUMAN	Homo sapiens zinc finger protein 197 (ZNF197), transcript variant 1, mRNA.	863					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)	25				KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598)		AAACCTGATTGAACATCAAAG	0.408000														40			46		0	0	0.011902	0	0
SLC9A5	6553	broad.mit.edu	37	16	67289375	67289375	+	Splice_Site	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr16:67289375G>A	uc002esm.3	+	4	796	c.733_splice	c.e4+1	p.A245_splice	SLC9A5_uc010cee.3_5'UTR|SLC9A5_uc010vji.2_Splice_Site	NM_004594	NP_004585	Q14940	SL9A5_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 5 (SLC9A5), mRNA.	245					regulation of pH	integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		AAGGGAGTCGGTCAGTATTTC	0.592000														22			23		0	0	0.002780	0	0
FRMD3	257019	broad.mit.edu	37	9	85863229	85863229	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr9:85863229G>A	uc004ams.2	-	13	1600	c.1398C>T	c.(1396-1398)ctC>ctT	p.L466L	FRMD3_uc004amr.1_Silent_p.L466L|FRMD3_uc022bja.1_Silent_p.L422L|FRMD3_uc004amq.1_Silent_p.L123L|FRMD3_uc022biz.1_Silent_p.L272L	NM_174938	NP_777598	A2A2Y4	FRMD3_HUMAN	Homo sapiens FERM domain containing 3 (FRMD3), transcript variant 1, mRNA.	466						cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	30						GACAGTCAAAGAGCATGTCAA	0.438000														7			44		0	0	0.014410	0	0
CSMD1	64478	broad.mit.edu	37	8	3889560	3889560	+	Silent	SNP	C	T	T	rs111253069		TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr8:3889560C>T	uc022aqr.1	-	3	867	c.477G>A	c.(475-477)acG>acA	p.T159T		NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	159	Sushi 1.					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)		TGTTGAATCTCGTTCCATGCA	0.458000														35			27		0	0	0.007291	0	0
STARD8	9754	broad.mit.edu	37	X	67943842	67943842	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:67943842G>A	uc004dxb.3	+	13	3287	c.3073G>A	c.(3073-3075)Gat>Aat	p.D1025N	STARD8_uc004dxa.3_Missense_Mutation_p.D945N|STARD8_uc004dxc.4_Missense_Mutation_p.D945N	NM_001142503	NP_055540	Q92502	STAR8_HUMAN	Homo sapiens StAR-related lipid transfer (START) domain containing 8 (STARD8), transcript variant 1, mRNA.	945					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion	GTPase activator activity			NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	50						CCAGTCCCTGGATCCGGAACA	0.602000														23			15		0	0	0.002450	0	0
TMC2	117532	broad.mit.edu	37	20	2592879	2592879	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr20:2592879C>T	uc002wgf.1	+	12	1651	c.1636C>T	c.(1636-1638)Ctg>Ttg	p.L546L	TMC2_uc002wgg.1_Silent_p.L530L|TMC2_uc010zpw.1_Silent_p.L378L|TMC2_uc010zpx.1_Silent_p.L377L	NM_080751	NP_542789	Q8TDI7	TMC2_HUMAN	Homo sapiens transmembrane channel-like 2 (TMC2), mRNA.	546						integral to membrane				NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						TCACTGGACTCTGTTTAACTA	0.512000														42			39		0	0	0.008740	0	0
KRTAP10-4	386672	broad.mit.edu	37	21	45994385	45994385	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr21:45994385C>T	uc002zfk.1	+	0	780	c.750C>T	c.(748-750)tgC>tgT	p.C250C	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198687	NP_941960	P60372	KR104_HUMAN	Homo sapiens keratin associated protein 10-4 (KRTAP10-4), mRNA.	250	36 X 5 AA repeats of C-C-X(3).					keratin filament				NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(1)	18						CCTCTTCATGCTGCCAGCAGT	0.627000														66			64		0	0	0.014410	0	0
LIG4	3981	broad.mit.edu	37	13	108862926	108862926	+	Missense_Mutation	SNP	G	A	A	rs3093765		TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr13:108862926G>A	uc001vqn.3	-	1	964	c.691C>T	c.(691-693)Cct>Tct	p.P231S	LIG4_uc001vqo.3_Missense_Mutation_p.P231S|LIG4_uc010agf.3_Missense_Mutation_p.P231S|LIG4_uc001vqp.3_Missense_Mutation_p.P231S|LIG4_uc010agg.1_Missense_Mutation_p.P164S|LIG4_uc021rmk.1_Missense_Mutation_p.P231S	NM_002312	NP_996820	P49917	DNLI4_HUMAN	Homo sapiens ligase IV, DNA, ATP-dependent (LIG4), transcript variant 1, mRNA.	231			P -> S (in dbSNP:rs3093765).		DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|T cell differentiation in thymus|T cell receptor V(D)J recombination|cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to X-ray|response to gamma radiation|single strand break repair|somatic stem cell maintenance	DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|condensed chromosome|cytoplasm|focal adhesion|nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					CCTACAGAAGGATCATGCAGT	0.363000								Non-homologous end-joining						22			23		0	0	0.002780	0	0
MEP1A	4224	broad.mit.edu	37	6	46803057	46803057	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr6:46803057C>T	uc011dwh.1	+	11	1947	c.1939C>T	c.(1939-1941)Caa>Taa	p.Q647*	MEP1A_uc010jzh.1_Nonsense_Mutation_p.Q619*|MEP1A_uc011dwg.1_Nonsense_Mutation_p.Q341*|MEP1A_uc011dwi.1_Nonsense_Mutation_p.Q519*	NM_005588	NP_005579	Q16819	MEP1A_HUMAN	Homo sapiens meprin A, alpha (PABA peptide hydrolase) (MEP1A), mRNA.	619					digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			CCTCATTCTCCAAGGCCAGGA	0.552000														3			8		0	0	0.003080	0	0
TTN	7273	broad.mit.edu	37	2	179396937	179396937	+	Missense_Mutation	SNP	T	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:179396937T>A	uc021vsy.1	-	306	96926	c.96701A>T	c.(96700-96702)aAa>aTa	p.K32234I	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.K25929I|TTN_uc021vta.1_Missense_Mutation_p.K25862I|TTN_uc021vtb.1_Missense_Mutation_p.K25737I|TTN_uc002umq.3_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	33161	Protein kinase.						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)			TCGCCTTGATTTCTTTCTAGA	0.413000														23			14		0	0	0.003163	0	0
DSG4	147409	broad.mit.edu	37	18	28983388	28983388	+	Missense_Mutation	SNP	G	A	A	rs74896702		TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr18:28983388G>A	uc002kwr.2	+	10	1562	c.1427G>A	c.(1426-1428)gGa>gAa	p.G476E	DSG4_uc002kwq.2_Missense_Mutation_p.G476E	NM_001134453	NP_001127925	Q86SJ6	DSG4_HUMAN	Homo sapiens desmoglein 4 (DSG4), transcript variant 1, mRNA.	476	Cadherin 4.				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	p.G476V(2)		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)			GATGGCTCTGGAAAAACAGCT	0.403000														7			7		0	0	0.003080	0	0
SLITRK6	84189	broad.mit.edu	37	13	86369238	86369238	+	Missense_Mutation	SNP	T	C	C			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr13:86369238T>C	uc001vll.1	-	1	1865	c.1406A>G	c.(1405-1407)aAc>aGc	p.N469S	SLITRK6_uc021rla.1_Missense_Mutation_p.N469S	NM_032229	NP_115605	Q9H5Y7	SLIK6_HUMAN	Homo sapiens SLIT and NTRK-like family, member 6 (SLITRK6), mRNA.	469				N -> H (in Ref. 1).		integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		TTGGAGGAGGTTGTTATTTAA	0.328000														42			42		0	0	0.010771	0	0
LOC283914	283914	broad.mit.edu	37	16	34624268	34624268	+	RNA	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr16:34624268C>T	uc002edw.3	+	8		c.2114C>T			LOC283914_uc010vgc.1_Intron					Homo sapiens uncharacterized LOC283914 (LOC283914), non-coding RNA.																		ATCTGTTTTCCATGAACAATT	0.368000														61			44		0	0	0.007835	0	0
OR2A2	442361	broad.mit.edu	37	7	143806811	143806811	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:143806811G>A	uc011ktz.2	+	0	136	c.136G>A	c.(136-138)Ggg>Agg	p.G46R		NM_001005480	NP_001005480	Q6IF42	OR2A2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 2 (OR2A2), mRNA.	46					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22	Melanoma(164;0.0783)					GGTCATCTTTGGGATTATCTG	0.507000														129			64		0	0	0.014410	0	0
SCN5A	6331	broad.mit.edu	37	3	38674559	38674559	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:38674559C>T	uc021wvo.1	-	0	292	c.240G>A	c.(238-240)ctG>ctA	p.L80L	SCN5A_uc021wvk.1_Silent_p.L80L|SCN5A_uc021wvl.1_Silent_p.L80L|SCN5A_uc021wvm.1_Silent_p.L80L|SCN5A_uc021wvn.1_Silent_p.L80L|SCN5A_uc021wvp.1_Silent_p.L80L|SCN5A_uc021wvq.1_Silent_p.L80L|SCN5A_uc021wvr.1_Silent_p.L80L|SCN5A_uc021wvs.1_Silent_p.L80L|SCN5A_uc021wvt.1_Silent_p.L80L|SCN5A_uc021wvu.1_Silent_p.L80L|SCN5A_uc021wvv.1_Silent_p.L80L|SCN5A_uc021wvx.1_Nonsense_Mutation_p.W83*	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	80					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	CCAGGTCCTCCAGGGGCTCTC	0.612000														21			14		0	0	0.006122	0	0
KCTD14	65987	broad.mit.edu	37	11	77728220	77728220	+	Missense_Mutation	SNP	A	G	G			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:77728220A>G	uc001oyw.4	-	1	212	c.187T>C	c.(187-189)Ttc>Ctc	p.F63L	NDUFC2-KCTD14_uc021qnr.1_3'UTR|NDUFC2-KCTD14_uc021qns.1_3'UTR|NDUFC2-KCTD14_uc021qnt.1_3'UTR	NM_023930	NP_076419	Q9BQ13	KCD14_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 14 (KCTD14), mRNA.	63	BTB.					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)			AAGCTAGAGAACATCTCTGCC	0.597000														20			25		0	0	0.006320	0	0
TPTE	7179	broad.mit.edu	37	21	10996107	10996107	+	RNA	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr21:10996107G>A	uc002yis.1	-	11		c.2079C>T						P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 2, mRNA.						signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TGCCCAGTTCGACTTCTTTGC	0.413000														69			13		0	0	0.004007	0	0
USP7	7874	broad.mit.edu	37	16	8996278	8996278	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr16:8996278C>T	uc002czl.2	-	16	2100	c.1901G>A	c.(1900-1902)cGa>cAa	p.R634Q	USP7_uc010uyk.1_Missense_Mutation_p.R535Q|USP7_uc010uyj.1_Missense_Mutation_p.R535Q|USP7_uc002czk.2_Missense_Mutation_p.R618Q|USP7_uc010uyl.1_Non-coding_Transcript	NM_003470	NP_003461	Q93009	UBP7_HUMAN	Homo sapiens ubiquitin specific peptidase 7 (herpes virus-associated) (USP7), mRNA.	634	Interaction with ICP0/VMW110.				interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process	PML body|cytoplasm	cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						CATTGCTGGTCGTTTTGTTCC	0.383000														26			20		0	0	0.006320	0	0
USH2A	7399	broad.mit.edu	37	1	216595659	216595659	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:216595659G>A	uc001hku.1	-	1	407	c.20C>T	c.(19-21)tCa>tTa	p.S7L	USH2A_uc001hkv.3_Missense_Mutation_p.S7L	NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	7					maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AGAGCCCAATGAAAGAACTGG	0.408000										HNSCC(13;0.011)				4			82		0	0	0.014410	0	0
CSMD3	114788	broad.mit.edu	37	8	113529451	113529451	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr8:113529451G>A	uc003ynu.3	-	27	4727	c.4568C>T	c.(4567-4569)tCt>tTt	p.S1523F	CSMD3_uc003yns.3_Missense_Mutation_p.S795F|CSMD3_uc003ynt.3_Missense_Mutation_p.S1483F|CSMD3_uc011lhx.2_Missense_Mutation_p.S1419F	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	1523	CUB 8.					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						AGTGGCAACAGAACCTATCAA	0.393000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				11			12		0	0	0.010729	0	0
VCAN	1462	broad.mit.edu	37	5	82833076	82833076	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:82833076C>T	uc003kii.3	+	7	4610	c.4254C>T	c.(4252-4254)acC>acT	p.T1418T	VCAN_uc003kij.3_Silent_p.T431T|VCAN_uc010jau.2_Intron|VCAN_uc003kik.3_Intron|VCAN_uc003kil.3_Silent_p.T82T	NM_004385	NP_004376	P13611	CSPG2_HUMAN	Homo sapiens versican (VCAN), transcript variant 1, mRNA.	1418	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		ATCTCGTTACCACTGTGCCCA	0.468000														17			30		0	0	0.013726	0	0
TEKT5	146279	broad.mit.edu	37	16	10729726	10729726	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr16:10729726C>T	uc002czz.1	-	5	1208	c.1136G>A	c.(1135-1137)aGg>aAg	p.R379K		NM_144674	NP_653275	Q96M29	TEKT5_HUMAN	Homo sapiens tektin 5 (TEKT5), mRNA.	379					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)	34						CATGATGGACCTTTCCAGCAG	0.637000														82			68		0	0	0.014410	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140176410	140176410	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:140176410C>T	uc003lhd.2	+	0	1967	c.1861C>T	c.(1861-1863)Ccg>Tcg	p.P621S	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhc.1_Missense_Mutation_p.P621S|PCDHAC2_uc011czy.2_Missense_Mutation_p.P621S	NM_018905	NP_061728	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 2 (PCDHA2), transcript variant 1, mRNA.	632	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCTCGCATCCCGTTCCGCGT	0.637000														28			27		0	0	0.007291	0	0
NLRP3	114548	broad.mit.edu	37	1	247587682	247587682	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:247587682G>A	uc001icr.3	+	4	1075	c.937G>A	c.(937-939)Gag>Aag	p.E313K	NLRP3_uc001ics.3_Missense_Mutation_p.E313K|NLRP3_uc001icu.3_Missense_Mutation_p.E313K|NLRP3_uc001icw.3_Missense_Mutation_p.E313K|NLRP3_uc001icv.3_Missense_Mutation_p.E313K|NLRP3_uc010pyw.2_Missense_Mutation_p.E311K|NLRP3_uc001ict.1_Missense_Mutation_p.E311K	NM_001079821	NP_001230062	Q96P20	NALP3_HUMAN	Homo sapiens NLR family, pyrin domain containing 3 (NLRP3), transcript variant 3, mRNA.	313	NACHT.				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	p.E313D(1)		NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			TGCCTTTGACGAGCACATAGG	0.577000														6			125		0	0	0.014410	0	0
CYP11B1	1584	broad.mit.edu	37	8	143960499	143960499	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr8:143960499G>A	uc010mey.3	-	2	486	c.479C>T	c.(478-480)cCc>cTc	p.P160L	CYP11B1_uc003yxh.3_5'Flank|CYP11B1_uc003yxi.3_Missense_Mutation_p.P115L|CYP11B1_uc003yxj.3_Missense_Mutation_p.P115L	NM_000497	NP_000488	P15538	C11B1_HUMAN	Homo sapiens cytochrome P450, family 11, subfamily B, polypeptide 1 (CYP11B1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	115			M -> I (in dbSNP:rs5287).		aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Mitotane(DB00648)	GGCCACCCAGGGCTCCAGGCT	0.617000									Familial Hyperaldosteronism type I					16			15		0	0	0.003163	0	0
IL1RAPL2	26280	broad.mit.edu	37	X	105011373	105011373	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:105011373G>A	uc004elz.1	+	10	2536	c.1780G>A	c.(1780-1782)Gcc>Acc	p.A594T		NM_017416	NP_059112	Q9NP60	IRPL2_HUMAN	Homo sapiens interleukin 1 receptor accessory protein-like 2 (IL1RAPL2), mRNA.	594					central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						CAGTACTTCAGCCACTCTGGT	0.473000														41			50		0	0	0.014410	0	0
KIAA1274	27143	broad.mit.edu	37	10	72289707	72289707	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr10:72289707C>T	uc001jrd.4	+	3	632	c.351C>T	c.(349-351)agC>agT	p.S117S		NM_014431	NP_055246	Q9ULE6	PALD_HUMAN	Homo sapiens KIAA1274 (KIAA1274), mRNA.	117										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(21)|ovary(2)|prostate(4)|urinary_tract(1)	36						CCGTGGGAAGCTGTGGGGCCC	0.642000														17			17		0	0	0.004007	0	0
WDR49	151790	broad.mit.edu	37	3	167217983	167217983	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:167217983C>T	uc003fev.1	-	13	2237	c.1933G>A	c.(1933-1935)Gaa>Aaa	p.E645K	WDR49_uc003feu.1_Missense_Mutation_p.E470K|WDR49_uc011bpd.1_Missense_Mutation_p.E610K|WDR49_uc003few.1_Intron	NM_178824	NP_849146	Q8IV35	WDR49_HUMAN	Homo sapiens WD repeat domain 49 (WDR49), mRNA.	645										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						GGACGCTCTTCCTCTGGTTCT	0.423000														113			97		0	0	0.014410	0	0
VEGFC	7424	broad.mit.edu	37	4	177608992	177608992	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr4:177608992G>A	uc003ius.1	-	4	1224	c.794C>T	c.(793-795)tCc>tTc	p.S265F		NM_005429	NP_005420	P49767	VEGFC_HUMAN	Homo sapiens vascular endothelial growth factor C (VEGFC), mRNA.	265					angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway	membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity			biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2)	41		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)		AGCATCCGAGGAAAACATAAA	0.413000														44			46		0	0	0.014410	0	0
AL117485	0	broad.mit.edu	37	22	18844768	18844768	+	RNA	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr22:18844768G>A	uc002zoe.3	+	3		c.2022G>A			AL117485_uc002zof.3_5'Flank					Homo sapiens cDNA FLJ76361 complete cds.																		GCCTCTGAGGGCAGCAGTGCA	0.562000														10			3		0	0	0.009096	0	0
MUC16	94025	broad.mit.edu	37	19	9091108	9091108	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:9091108G>A	uc002mkp.3	-	0	911	c.707C>T	c.(706-708)tCc>tTc	p.S236F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	236	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						GTCAAGGAAGGAAGAATAAAG	0.463000														40			33		0	0	0.010818	0	0
PACRGL	133015	broad.mit.edu	37	4	20715058	20715058	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr4:20715058C>T	uc010iei.1	+	8	895	c.649C>T	c.(649-651)Cat>Tat	p.H217Y	PACRGL_uc003gpu.3_Non-coding_Transcript|PACRGL_uc003gpz.3_Missense_Mutation_p.H169Y|PACRGL_uc011bxm.2_Missense_Mutation_p.H116Y|PACRGL_uc003gqa.3_Missense_Mutation_p.H71Y|PACRGL_uc010iek.3_Missense_Mutation_p.H169Y|PACRGL_uc010iej.1_Non-coding_Transcript|PACRGL_uc011bxn.2_Missense_Mutation_p.H71Y	NM_145048	NP_659485	Q8N7B6	PACRL_HUMAN	Homo sapiens PARK2 co-regulated-like (PACRGL), transcript variant 1, mRNA.	169							binding			endometrium(2)|lung(7)|prostate(1)	10						CTTACAGGTCCATTCGGATGA	0.428000														21			31		0	0	0.013726	0	0
TRANK1	9881	broad.mit.edu	37	3	36872803	36872803	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:36872803C>T	uc003cgj.3	-	20	8387	c.8139G>A	c.(8137-8139)ggG>ggA	p.G2713G		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	2713					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						TTTTGAAGTTCCCAGCCCTGG	0.582000														11			11		0	0	0.010729	0	0
GJB6	10804	broad.mit.edu	37	13	20797386	20797386	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr13:20797386G>A	uc001und.4	-	2	621	c.234C>T	c.(232-234)gcC>gcT	p.A78A	GJB6_uc001umz.4_Silent_p.A78A|GJB6_uc001unb.4_Silent_p.A78A|GJB6_uc001unc.4_Silent_p.A78A|GJB6_uc001una.4_Silent_p.A78A|GJB6_uc021rhb.1_Silent_p.A78A	NM_001110221	NP_006774	O95452	CXB6_HUMAN	Homo sapiens gap junction protein, beta 6, 30kDa (GJB6), transcript variant 4, mRNA.	78					cell communication|sensory perception of sound	connexon complex|integral to membrane|intracellular membrane-bounded organelle				biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)	9		all_cancers(29;2.04e-22)|all_epithelial(30;1.19e-19)|all_lung(29;2.27e-18)|Lung SC(185;0.0257)|Ovarian(182;0.0822)		all cancers(112;2.17e-05)|Epithelial(112;0.00075)|OV - Ovarian serous cystadenocarcinoma(117;0.00978)|Lung(94;0.0238)|GBM - Glioblastoma multiforme(144;0.0323)|LUSC - Lung squamous cell carcinoma(192;0.0744)		TCAGCTGGAGGGCCCACAGCC	0.572000														20			16		0	0	0.004007	0	0
KIAA0100	9703	broad.mit.edu	37	17	26958672	26958672	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr17:26958672G>A	uc002hbu.3	-	22	4227	c.4124C>T	c.(4123-4125)tCt>tTt	p.S1375F		NM_014680	NP_055495	Q14667	K0100_HUMAN	Homo sapiens KIAA0100 (KIAA0100), mRNA.	1375						extracellular region				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					ACTCCAATCAGAGATAAGGCG	0.522000														18			18		0	0	0.006122	0	0
FIBIN	387758	broad.mit.edu	37	11	27016437	27016437	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:27016437G>A	uc001mrd.3	+	0	810	c.364G>A	c.(364-366)Gag>Aag	p.E122K		NM_203371	NP_976249	Q8TAL6	FIBIN_HUMAN	Homo sapiens fin bud initiation factor homolog (zebrafish) (FIBIN), mRNA.	122						Golgi apparatus|extracellular region				breast(1)|endometrium(2)|lung(7)|upper_aerodigestive_tract(1)	11						CCTGCGGCGGGAGTCCCACCA	0.612000														20			17		0	0	0.010504	0	0
SPNS3	201305	broad.mit.edu	37	17	4337383	4337383	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr17:4337383C>T	uc002fxt.3	+	0	165	c.121C>T	c.(121-123)Ccg>Tcg	p.P41S	SPNS3_uc002fxu.3_5'UTR	NM_182538	NP_872344	Q6ZMD2	SPNS3_HUMAN	Homo sapiens spinster homolog 3 (Drosophila) (SPNS3), mRNA.	41					lipid transport|transmembrane transport	integral to membrane				NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(6)|stomach(2)	28						GAGCCTGCCCCCGTGGAGGGC	0.652000														30			34		0	0	0.010771	0	0
KRT28	162605	broad.mit.edu	37	17	38954492	38954492	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr17:38954492C>T	uc002hvh.1	-	2	751	c.685G>A	c.(685-687)Gaa>Aaa	p.E229K		NM_181535	NP_853513	Q7Z3Y7	K1C28_HUMAN	Homo sapiens keratin 28 (KRT28), mRNA.	229	Coil 1B.|Rod.					cytoplasm|intermediate filament	structural molecule activity			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30		Breast(137;0.000301)				CCTACCTCTTCGTGGTTCTTT	0.463000														65			44		0	0	0.014410	0	0
ADAMDEC1	27299	broad.mit.edu	37	8	24256445	24256445	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr8:24256445G>A	uc003xdz.2	+	8	1041	c.821G>A	c.(820-822)gGg>gAg	p.G274E	ADAMDEC1_uc010lub.2_Missense_Mutation_p.G195E|ADAMDEC1_uc011lab.1_Missense_Mutation_p.G195E	NM_014479	NP_001138744	O15204	ADEC1_HUMAN	Homo sapiens ADAM-like, decysin 1 (ADAMDEC1), transcript variant 1, mRNA.	274	Peptidase M12B.				integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis	extracellular region|integral to membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		TGGTCTGATGGGGATAAGATA	0.443000														41			20		0	0	0.012319	0	0
HPS4	89781	broad.mit.edu	37	22	26868811	26868811	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr22:26868811G>A	uc003acl.3	-	4	1030	c.371C>T	c.(370-372)tCc>tTc	p.S124F	HPS4_uc003aci.3_Missense_Mutation_p.S119F|HPS4_uc003acj.3_5'UTR|HPS4_uc003ack.3_5'UTR|HPS4_uc003acn.3_5'UTR|HPS4_uc010gvd.1_Missense_Mutation_p.S124F|HPS4_uc003ach.3_5'Flank	NM_022081	NP_071364	Q9NQG7	HPS4_HUMAN	Homo sapiens Hermansky-Pudlak syndrome 4 (HPS4), transcript variant 1, mRNA.	124					lysosome organization|positive regulation of eye pigmentation|protein stabilization|protein targeting	lysosome|melanosome|membrane fraction|platelet dense granule	protein homodimerization activity			breast(2)|endometrium(3)|kidney(5)|large_intestine(4)|lung(12)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	32						ATAAGCTAGGGAAACAGGTCC	0.468000									Hermansky-Pudlak syndrome					73			52		0	0	0.014410	0	0
RPS6KC1	26750	broad.mit.edu	37	1	213434904	213434904	+	Missense_Mutation	SNP	T	C	C			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:213434904T>C	uc010ptr.2	+	12	3074	c.2915T>C	c.(2914-2916)gTt>gCt	p.V972A	RPS6KC1_uc001hkd.3_Missense_Mutation_p.V960A|RPS6KC1_uc010pts.2_Missense_Mutation_p.V760A|RPS6KC1_uc010ptt.2_Missense_Mutation_p.V760A|RPS6KC1_uc010ptu.2_Missense_Mutation_p.V791A|RPS6KC1_uc010ptv.2_Missense_Mutation_p.V507A|RPS6KC1_uc001hke.3_Missense_Mutation_p.V791A	NM_012424	NP_036556	Q96S38	KS6C1_HUMAN	Homo sapiens ribosomal protein S6 kinase, 52kDa, polypeptide 1 (RPS6KC1), transcript variant 1, mRNA.	972	Protein kinase 2.				cell communication|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity			breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		TGGTTAGAGGTTGGAGCAATC	0.403000														14			428		0	0	0.014410	0	0
PWWP2B	170394	broad.mit.edu	37	10	134218812	134218812	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr10:134218812C>T	uc001lll.4	+	1	837	c.808C>T	c.(808-810)Ccc>Tcc	p.P270S	PWWP2B_uc009ybe.3_Missense_Mutation_p.P270S	NM_138499	NP_612508	Q6NUJ5	PWP2B_HUMAN	Homo sapiens PWWP domain containing 2B (PWWP2B), transcript variant 1, mRNA.	270										central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)		GGTCAAGATCCCCTCCCGCGT	0.706000														9			5		0	0	0.001984	0	0
ZNF480	147657	broad.mit.edu	37	19	52825504	52825504	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:52825504G>A	uc010ydl.2	+	4	1071	c.1001G>A	c.(1000-1002)tGg>tAg	p.W334*	ZNF480_uc002pyv.3_Nonsense_Mutation_p.W257*|ZNF480_uc010ydm.2_Nonsense_Mutation_p.W291*|ZNF480_uc010epn.3_Nonsense_Mutation_p.W165*|AK097759_uc002pyw.1_Intron	NM_144684	NP_653285	Q8WV37	ZN480_HUMAN	Homo sapiens zinc finger protein 480 (ZNF480), mRNA.	334					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	12				GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369)		GCAAATCATTGGAGAATTTAT	0.388000														36			26		0	0	0.003954	0	0
FAM47C	442444	broad.mit.edu	37	X	37028690	37028690	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:37028690C>T	uc004ddl.2	+	0	2259	c.2207C>T	c.(2206-2208)tCc>tTc	p.S736F		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	Homo sapiens family with sequence similarity 47, member C (FAM47C), mRNA.	736										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						ACTGGAGTGTCCCATCTCCGC	0.637000														45			30		0	0	0.008361	0	0
STS	412	broad.mit.edu	37	X	7268244	7268244	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:7268244C>T	uc004cry.4	+	9	1939	c.1694C>T	c.(1693-1695)tCc>tTc	p.S565F		NM_000351	NP_000342	P08842	STS_HUMAN	Homo sapiens steroid sulfatase (microsomal), isozyme S (STS), mRNA.	565					female pregnancy|steroid catabolic process	Golgi apparatus|endoplasmic reticulum membrane|endosome|integral to membrane|lysosome|microsome|plasma membrane	metal ion binding|steryl-sulfatase activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(1)	27		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)			Estrone(DB00655)	TGCTGTCCTTCCACCGGCCTG	0.562000									Ichthyosis					19			14		0	0	0.003163	0	0
UNC13C	440279	broad.mit.edu	37	15	54586243	54586243	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr15:54586243G>A	uc021smr.1	+	8	3963	c.3963G>A	c.(3961-3963)atG>atA	p.M1321I	UNC13C_uc021sms.1_Missense_Mutation_p.M1323I|UNC13C_uc002acl.3_Missense_Mutation_p.M153I	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	1323					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	p.G1321*(1)		breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		GTGGAGAAATGGATGTCTGGT	0.343000														117			90		0	0	0.014410	0	0
FZD10	11211	broad.mit.edu	37	12	130648761	130648761	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:130648761G>A	uc001uii.3	+	0	1758	c.1274G>A	c.(1273-1275)aGg>aAg	p.R425K	FLJ31485_uc001uig.2_5'Flank|FLJ31485_uc001uih.2_5'Flank	NM_007197	NP_009128	Q9ULW2	FZD10_HUMAN	Homo sapiens frizzled family receptor 10 (FZD10), mRNA.	425					brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		CACATCCGGAGGGTGATGAAG	0.622000														31			24		0	0	0.003330	0	0
CD86	942	broad.mit.edu	37	3	121774344	121774344	+	Missense_Mutation	SNP	C	T	T	rs141814734	byFrequency	TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:121774344C>T	uc003eet.3	+	0	136	c.8C>T	c.(7-9)cCc>cTc	p.P3L	CD86_uc011bjo.2_5'UTR|CD86_uc011bjp.2_Missense_Mutation_p.P3L	NM_175862	NP_008820	P42081	CD86_HUMAN	Homo sapiens CD86 molecule (CD86), transcript variant 1, mRNA.	3					T cell costimulation|interspecies interaction between organisms|positive regulation of T-helper 2 cell differentiation|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of transcription, DNA-dependent		coreceptor activity|protein binding			breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	23				GBM - Glioblastoma multiforme(114;0.156)	Abatacept(DB01281)	AAAATGGATCCCCAGTGGTGA	0.458000														52			30		0	0	0.012213	0	0
FAM83B	222584	broad.mit.edu	37	6	54791187	54791187	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr6:54791187G>A	uc003pck.3	+	2	579	c.463G>A	c.(463-465)Gat>Aat	p.D155N		NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN	Homo sapiens family with sequence similarity 83, member B (FAM83B), mRNA.	155										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					TTTAGTGATGGATATATTTAC	0.308000														34			23		0	0	0.006320	0	0
KLHL26	55295	broad.mit.edu	37	19	18779689	18779689	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:18779689G>A	uc002njz.1	+	2	1509	c.1482G>A	c.(1480-1482)atG>atA	p.M494I		NM_018316	NP_060786	Q53HC5	KLH26_HUMAN	Homo sapiens kelch-like 26 (Drosophila) (KLHL26), mRNA.	494										breast(1)|central_nervous_system(1)|kidney(1)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						AGGCGCCCATGAGCGAACCCC	0.672000														23			28		0	0	0.009535	0	0
OS9	10956	broad.mit.edu	37	12	58111979	58111979	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:58111979C>T	uc001spj.3	+	10	1392	c.1185C>T	c.(1183-1185)gtC>gtT	p.V395V	OS9_uc010srx.2_Silent_p.V189V|OS9_uc001spk.3_Silent_p.V395V|OS9_uc001spl.3_Silent_p.V395V|OS9_uc001spm.3_Silent_p.V395V|OS9_uc001spn.3_Silent_p.V396V|OS9_uc010sry.2_Silent_p.V363V|OS9_uc010srz.2_Silent_p.V336V	NM_006812	NP_006803	Q13438	OS9_HUMAN	Homo sapiens osteosarcoma amplified 9, endoplasmic reticulum lectin (OS9), transcript variant 1, mRNA.	395					ER-associated protein catabolic process|protein retention in ER lumen|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to endoplasmic reticulum stress	Hrd1p ubiquitin ligase complex|endoplasmic reticulum lumen	glycoprotein binding|protein binding|sugar binding			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	21	all_neural(12;0.00548)|Glioma(12;0.0126)|Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			CTGCAGAAGTCCCTCAGAGGG	0.532000														17			16		0	0	0.004007	0	0
SERPINE1	5054	broad.mit.edu	37	7	100780314	100780314	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:100780314G>A	uc003uxt.3	+	7	1268	c.1120G>A	c.(1120-1122)Gag>Aag	p.E374K	SERPINE1_uc011kkj.2_Missense_Mutation_p.E359K|SERPINE1_uc003uxu.2_3'UTR|SERPINE1_uc022aix.1_5'Flank	NM_000602	NP_000593	P05121	PAI1_HUMAN	Homo sapiens serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1 (SERPINE1), transcript variant 1, mRNA.	374					angiogenesis|cellular response to chemical stimulus|cellular response to lipopolysaccharide|chronological cell aging|defense response to Gram-negative bacterium|fibrinolysis|negative regulation of apoptosis|negative regulation of cell adhesion mediated by integrin|negative regulation of fibrinolysis|negative regulation of plasminogen activation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell-matrix adhesion|negative regulation of vascular wound healing|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of interleukin-8 production|positive regulation of leukotriene production involved in inflammatory response|positive regulation of monocyte chemotaxis|positive regulation of receptor-mediated endocytosis|regulation of receptor activity	extracellular matrix|extracellular space|plasma membrane|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)	20	Lung NSC(181;0.136)|all_lung(186;0.182)				Atorvastatin(DB01076)|Dimethyl sulfoxide(DB01093)|Drotrecogin alfa(DB00055)|Simvastatin(DB00641)|Tenecteplase(DB00031)|Troglitazone(DB00197)|Urokinase(DB00013)	GGCCCCCGAGGAGATCATCAT	0.592000														54			46		0	0	0.014410	0	0
OR2M7	391196	broad.mit.edu	37	1	248487244	248487244	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:248487244G>A	uc010pzk.2	-	0	627	c.627C>T	c.(625-627)ttC>ttT	p.F209F		NM_001004691	NP_001004691	Q8NG81	OR2M7_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 7 (OR2M7), mRNA.	209					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V208I(1)		breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TTGCAACAGGGAAAACAAGCA	0.418000														15			434		0	0	0.014410	0	0
MLL2	8085	broad.mit.edu	37	12	49448351	49448351	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:49448351G>A	uc001rta.4	-	2	360	c.360C>T	c.(358-360)ttC>ttT	p.F120F		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	120					chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						GGCCCTCAGGGAAACCAATCT	0.597000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)				8			5		0	0	0.003080	0	0
SOX3	6658	broad.mit.edu	37	X	139586875	139586875	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:139586875C>T	uc004fbd.1	-	0	351	c.351G>A	c.(349-351)gcG>gcA	p.A117A		NM_005634	NP_005625	P41225	SOX3_HUMAN	Homo sapiens SRY (sex determining region Y)-box 3 (SOX3), mRNA.	117					face development|hypothalamus development|negative regulation of neuron differentiation|pituitary gland development|regulation of transcription, DNA-dependent|sensory organ development|sex determination|transcription, DNA-dependent	nucleus	DNA binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	10	Acute lymphoblastic leukemia(192;7.65e-05)					CGCCCGAGTTCGCGCCGCCGG	0.706000														14			6		0	0	0.001984	0	0
MARS2	92935	broad.mit.edu	37	2	198570890	198570890	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:198570890C>T	uc002uuq.3	+	0	863	c.761C>T	c.(760-762)tCc>tTc	p.S254F	BC021693_uc002uup.3_Intron	NM_138395	NP_612404	Q96GW9	SYMM_HUMAN	Homo sapiens methionyl-tRNA synthetase 2, mitochondrial (MARS2), nuclear gene encoding mitochondrial protein, mRNA.	254					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)	CCCGACCTGTCCGTGTCTCGC	0.607000														28			24		0	0	0.005443	0	0
SEC16B	89866	broad.mit.edu	37	1	177908848	177908848	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:177908848C>T	uc001glj.1	-	22	3061	c.2195G>A	c.(2194-2196)gGa>gAa	p.G732E	SEC16B_uc001glk.1_Missense_Mutation_p.G408E|SEC16B_uc009wwy.1_Missense_Mutation_p.G286E|SEC16B_uc001glh.1_Missense_Mutation_p.G390E|SEC16B_uc001gli.1_Missense_Mutation_p.G731E|SEC16B_uc009wwz.1_Missense_Mutation_p.G390E	NM_033127	NP_149118	Q96JE7	SC16B_HUMAN	Homo sapiens SEC16 homolog B (S. cerevisiae) (SEC16B), mRNA.	731					protein transport|vesicle-mediated transport	Golgi membrane|endoplasmic reticulum membrane				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						TGTTGTTGTTCCTCCGGCTCC	0.418000														1			14		0	0	0.004990	0	0
ERBB2	2064	broad.mit.edu	37	17	37865597	37865597	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr17:37865597C>T	uc002hso.3	+	3	704	c.466C>T	c.(466-468)Cag>Tag	p.Q156*	ERBB2_uc010cwa.3_Nonsense_Mutation_p.Q141*|ERBB2_uc002hsm.3_Nonsense_Mutation_p.Q126*|ERBB2_uc002hsp.3_5'UTR|ERBB2_uc010cwb.3_Nonsense_Mutation_p.Q156*|ERBB2_uc010wek.2_Intron|ERBB2_uc002hsl.3_Nonsense_Mutation_p.Q126*|ERBB2_uc002hsn.1_Nonsense_Mutation_p.Q156*	NM_004448	NP_001005862	P04626	ERBB2_HUMAN	Homo sapiens v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian) (ERBB2), transcript variant 1, mRNA.	156					cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of MAP kinase activity|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|ErbB-3 class receptor binding|epidermal growth factor receptor activity|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	GGTCTTGATCCAGCGGAACCC	0.552000		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)				45			30		0	0	0.009535	0	0
KSR2	283455	broad.mit.edu	37	12	118199276	118199276	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:118199276C>T	uc001two.2	-	3	494	c.439G>A	c.(439-441)Ggg>Agg	p.G147R		NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN	Homo sapiens kinase suppressor of ras 2 (KSR2), mRNA.	176					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)					TTCTCCTTCCCCGTCTCTGTC	0.597000														45			33		0	0	0.004878	0	0
SAGE1	55511	broad.mit.edu	37	X	134992691	134992691	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:134992691C>T	uc004ezh.3	+	15	2149	c.1982C>T	c.(1981-1983)tCa>tTa	p.S661L	SAGE1_uc010nry.1_Missense_Mutation_p.S630L|SAGE1_uc011mvv.2_Missense_Mutation_p.S285L	NM_018666	NP_061136	Q9NXZ1	SAGE1_HUMAN	Homo sapiens sarcoma antigen 1 (SAGE1), mRNA.	661										breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					GCTGGAATTTCATCCACGATT	0.438000														77			136		0	0	0.014410	0	0
ANO3	63982	broad.mit.edu	37	11	26620405	26620405	+	Splice_Site	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:26620405G>A	uc001mqt.4	+	16	1676	c.1531_splice	c.e16-1	p.E511_splice	ANO3_uc010rdr.2_Splice_Site_p.E495_splice|ANO3_uc010rds.2_Splice_Site_p.E350_splice|ANO3_uc010rdt.2_Splice_Site_p.E365_splice	NM_031418	NP_113606	Q9BYT9	ANO3_HUMAN	Homo sapiens anoctamin 3 (ANO3), mRNA.	511						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						TCTCTCATAGGAAACACTTCG	0.383000														16			12		0	0	0.003163	0	0
PCDH1	5097	broad.mit.edu	37	5	141248533	141248533	+	Silent	SNP	G	A	A	rs145624062		TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:141248533G>A	uc003llp.3	-	1	621	c.504C>T	c.(502-504)ttC>ttT	p.F168F	PCDH1_uc011dbf.2_Silent_p.F146F|PCDH1_uc003llq.3_Silent_p.F168F	NM_032420	NP_115796	Q08174	PCDH1_HUMAN	Homo sapiens protocadherin 1 (PCDH1), transcript variant 2, mRNA.	168	Cadherin 1.				cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		CTGGTGAGGCGAAGTTGGGTG	0.552000														97			73		0	0	0.014410	0	0
OR52I2	143502	broad.mit.edu	37	11	4608812	4608812	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:4608812G>A	uc010qyh.2	+	0	792	c.770G>A	c.(769-771)gGt>gAt	p.G257D		NM_001005170	NP_001005170	Q8NH67	O52I2_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily I, member 2 (OR52I2), mRNA.	257					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|pancreas(1)|skin(1)	19		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCAGTATTTGGTCTCTCCTCA	0.473000														67			32		0	0	0.014410	0	0
FLRT2	23768	broad.mit.edu	37	14	86088753	86088753	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr14:86088753C>T	uc021rxf.1	+	0	895	c.895C>T	c.(895-897)Ctc>Ttc	p.L299F	FLRT2_uc001xvr.3_Missense_Mutation_p.L299F|FLRT2_uc010atd.3_Missense_Mutation_p.L299F	NM_013231	NP_037363	O43155	FLRT2_HUMAN	Homo sapiens fibronectin leucine rich transmembrane protein 2 (FLRT2), mRNA.	299					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		TTTTGATAATCTCTCCAACCT	0.453000														120			94		0	0	0.014410	0	0
MLLT3	4300	broad.mit.edu	37	9	20414405	20414405	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr9:20414405G>A	uc003zoe.2	-	4	698	c.439C>T	c.(439-441)Cat>Tat	p.H147Y	MLLT3_uc011lne.1_Missense_Mutation_p.H115Y|MLLT3_uc011lnf.1_Missense_Mutation_p.H144Y|MLLT3_uc003zof.3_5'UTR	NM_004529	NP_004520	P42568	AF9_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (MLLT3), mRNA.	147					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.H147Y(2)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		ctgctgGTATGAATACTCCTA	0.488000			T	MLL	ALL									22			11		0	0	0.008291	0	0
ZNF862	643641	broad.mit.edu	37	7	149545301	149545301	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:149545301C>T	uc010lpn.3	+	3	911	c.719C>T	c.(718-720)cCc>cTc	p.P240L		NM_001099220	NP_001092690	O60290	ZN862_HUMAN	Homo sapiens zinc finger protein 862 (ZNF862), mRNA.	240					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|nucleic acid binding|protein dimerization activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(1)	34						GCAGATTGCCCCATATTCTAC	0.617000														21			15		0	0	0.003163	0	0
SALL3	27164	broad.mit.edu	37	18	76752241	76752241	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr18:76752241G>A	uc002lmt.3	+	1	250	c.250G>A	c.(250-252)Gag>Aag	p.E84K	SALL3_uc010dra.3_5'Flank	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN	Homo sapiens sal-like 3 (Drosophila) (SALL3), mRNA.	84					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		GATCGTGCACGAGGACGCGCC	0.721000														9			9		0	0	0.008291	0	0
ITGB4	3691	broad.mit.edu	37	17	73727450	73727450	+	Splice_Site	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr17:73727450G>A	uc002jpg.3	+	10	1402	c.1215_splice	c.e10+1	p.V405_splice	ITGB4_uc002jph.3_Splice_Site_p.V405_splice|ITGB4_uc010dgo.3_Splice_Site_p.V405_splice|ITGB4_uc002jpi.4_Splice_Site_p.V405_splice|ITGB4_uc010dgp.1_Splice_Site_p.V405_splice|ITGB4_uc002jpj.3_Splice_Site_p.V405_splice|ITGB4_uc010wsh.1_5'Flank	NM_000213	NP_000204	P16144	ITB4_HUMAN	Homo sapiens integrin, beta 4 (ITGB4), transcript variant 1, mRNA.	405					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)			GGGGGAAGTGGTACGCCTCTG	0.642000														31			20		0	0	0.003954	0	0
OGT	8473	broad.mit.edu	37	X	70784462	70784462	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:70784462G>A	uc004eaa.2	+	18	2686	c.2448G>A	c.(2446-2448)aaG>aaA	p.K816K	BCYRN1_uc011mpt.1_Intron|OGT_uc004eab.2_Silent_p.K806K|OGT_uc004eac.3_Silent_p.K677K|OGT_uc004ead.3_Silent_p.K435K	NM_181672	NP_858058	O15294	OGT1_HUMAN	Homo sapiens O-linked N-acetylglucosamine (GlcNAc) transferase (UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase) (OGT), transcript variant 1, mRNA.	816					cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction	MLL5-L complex|cytosol	enzyme activator activity|protein N-acetylglucosaminyltransferase activity|protein binding	p.R815C(1)		breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					TCAACAATAAGGCTGCAACTG	0.373000														23			11		0	0	0.001855	0	0
CATSPER1	117144	broad.mit.edu	37	11	65793332	65793332	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:65793332G>A	uc001ogt.3	-	0	657	c.519C>T	c.(517-519)tcC>tcT	p.S173S		NM_053054	NP_444282	Q8NEC5	CTSR1_HUMAN	Homo sapiens cation channel, sperm associated 1 (CATSPER1), mRNA.	173	His-rich.				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding			breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						CACCATGGTGGGAAGCCTCAC	0.577000														19			26		0	0	0.009535	0	0
PTCD2	79810	broad.mit.edu	37	5	71622474	71622474	+	Missense_Mutation	SNP	C	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:71622474C>A	uc003kcb.3	+	2	266	c.256C>A	c.(256-258)Cag>Aag	p.Q86K	PTCD2_uc011csf.1_5'UTR|PTCD2_uc003kcc.3_5'UTR|PTCD2_uc011csg.2_5'UTR|PTCD2_uc011csh.2_Intron|PTCD2_uc003kcd.3_Non-coding_Transcript	NM_024754	NP_079030	Q8WV60	PTCD2_HUMAN	Homo sapiens pentatricopeptide repeat domain 2 (PTCD2), mRNA.	86										breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(1)|skin(1)	11		Lung NSC(167;0.00237)|Ovarian(174;0.0175)|Prostate(461;0.141)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.73e-53)		GAAACTGACCCAGAACAAGCT	0.433000														59			54		1.54043e-34	2.09668e-34	0.014410	1	0
HSF5	124535	broad.mit.edu	37	17	56557472	56557472	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr17:56557472C>T	uc002iwi.1	-	1	831	c.707G>A	c.(706-708)gGa>gAa	p.G236E		NM_001080439	NP_001073908	Q4G112	HSF5_HUMAN	Homo sapiens heat shock transcription factor family member 5 (HSF5), mRNA.	236						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	16	Medulloblastoma(34;0.127)|all_neural(34;0.237)					AGGATGCATTCCAAGGGAGTT	0.473000														47			61		0	0	0.014410	0	0
RAP1GAP2	23108	broad.mit.edu	37	17	2868886	2868886	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr17:2868886C>T	uc010ckd.3	+	7	635	c.545C>T	c.(544-546)tCc>tTc	p.S182F	RAP1GAP2_uc010cke.3_Missense_Mutation_p.S167F	NM_015085	NP_055900	Q684P5	RPGP2_HUMAN	Homo sapiens RAP1 GTPase activating protein 2 (RAP1GAP2), transcript variant 1, mRNA.	182					regulation of small GTPase mediated signal transduction	centrosome|cytosol|perinuclear region of cytoplasm	GTPase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	11						TTGATCCTGTCCGTCAAGTGC	0.527000														8			11		0	0	0.002450	0	0
JMJD1C	221037	broad.mit.edu	37	10	64973570	64973570	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr10:64973570G>A	uc001jmn.3	-	7	2657	c.2357C>T	c.(2356-2358)cCa>cTa	p.P786L	JMJD1C_uc001jml.3_Missense_Mutation_p.P567L|JMJD1C_uc001jmm.3_Missense_Mutation_p.P498L|JMJD1C_uc010qiq.2_Missense_Mutation_p.P604L|JMJD1C_uc009xpi.3_Missense_Mutation_p.P604L|JMJD1C_uc009xpj.2_Non-coding_Transcript|JMJD1C_uc001jmp.1_Missense_Mutation_p.P498L	NM_032776	NP_116165	Q15652	JHD2C_HUMAN	Homo sapiens jumonji domain containing 1C (JMJD1C), transcript variant 1, mRNA.	786					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					AGCATGGTGTGGACCACTAGT	0.498000														10			16		0	0	0.004007	0	0
NFASC	23114	broad.mit.edu	37	1	204943867	204943867	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:204943867C>T	uc010prc.2	+	12	1704	c.175C>T	c.(175-177)Cgc>Tgc	p.R59C	NFASC_uc001hbh.3_Missense_Mutation_p.R492C|NFASC_uc010pqz.2_Missense_Mutation_p.R486C|NFASC_uc001hbj.3_Missense_Mutation_p.R492C|NFASC_uc010pra.2_Missense_Mutation_p.R503C|NFASC_uc001hbi.3_Missense_Mutation_p.R503C|NFASC_uc010prb.2_Missense_Mutation_p.R503C|NFASC_uc001hbk.1_Missense_Mutation_p.R313C			O94856	NFASC_HUMAN	Homo sapiens neurofascin (NFASC), transcript variant 2, mRNA.	492	Ig-like C2-type 1.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding	p.R492S(2)|p.R503C(1)|p.R503S(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			TAAGATGATCCGCAAAGAGGA	0.507000														7			181		0	0	0.014410	0	0
CTNNA2	1496	broad.mit.edu	37	2	80085165	80085165	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:80085165G>A	uc010ysh.2	+	2	330	c.325G>A	c.(325-327)Gag>Aag	p.E109K	CTNNA2_uc010yse.2_Missense_Mutation_p.E109K|CTNNA2_uc010ysf.2_Missense_Mutation_p.E109K|CTNNA2_uc010ysg.2_Missense_Mutation_p.E109K	NM_004389	NP_004380	P26232	CTNA2_HUMAN	Homo sapiens catenin (cadherin-associated protein), alpha 2 (CTNNA2), transcript variant 1, mRNA.	109					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						CGCCTCCTCCGAGTTTGCAGA	0.582000														69			63		0	0	0.014410	0	0
ARID5B	84159	broad.mit.edu	37	10	63852711	63852711	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr10:63852711C>T	uc001jlt.2	+	9	3945	c.3489C>T	c.(3487-3489)taC>taT	p.Y1163Y	ARID5B_uc001jlu.2_Silent_p.Y920Y	NM_032199	NP_115575	Q14865	ARI5B_HUMAN	Homo sapiens AT rich interactive domain 5B (MRF1-like) (ARID5B), transcript variant 1, mRNA.	1163					liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding			NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					ACAGCATTTACCCTTTAGCTG	0.488000														56			42		0	0	0.006999	0	0
KRT6B	3854	broad.mit.edu	37	12	52845376	52845376	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:52845376C>T	uc001sak.3	-	0	535	c.487G>A	c.(487-489)Gag>Aag	p.E163K		NM_005555	NP_005546	P04259	K2C6B_HUMAN	Homo sapiens keratin 6B (KRT6B), mRNA.	163	Coil 1A.|Rod.				ectoderm development	keratin filament	structural constituent of cytoskeleton	p.E162*(1)		NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2)	40				BRCA - Breast invasive adenocarcinoma(357;0.083)		TGCTCACGCTCCTCGGCCCGC	0.607000														58			12		0	0	0.003330	0	0
ANAPC1	64682	broad.mit.edu	37	2	112620093	112620093	+	Nonsense_Mutation	SNP	T	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:112620093T>A	uc002thi.3	-	9	1382	c.1135A>T	c.(1135-1137)Aag>Tag	p.K379*		NM_022662	NP_073153	Q9H1A4	APC1_HUMAN	Homo sapiens anaphase promoting complex subunit 1 (ANAPC1), mRNA.	379					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						CTATGTCTCTTTGGAGACTGA	0.413000														13			4		0	0	0.001984	0	0
YSK4	80122	broad.mit.edu	37	2	135744319	135744319	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:135744319C>T	uc002tue.1	-	6	2154	c.2123G>A	c.(2122-2124)aGg>aAg	p.R708K	YSK4_uc002tuf.1_Intron|YSK4_uc010fnc.1_Intron|YSK4_uc010fnd.1_Missense_Mutation_p.R595K|YSK4_uc010zbg.1_Intron|YSK4_uc002tuh.4_Missense_Mutation_p.R436K|YSK4_uc002tui.4_Missense_Mutation_p.R725K	NM_025052	NP_079328	Q56UN5	YSK4_HUMAN	Homo sapiens YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae) (YSK4), transcript variant 1, mRNA.	708							ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(221;0.112)		ATTGCTCTTCCTCTCACTGTG	0.393000														78			64		0	0	0.014410	0	0
C16orf7	9605	broad.mit.edu	37	16	89774838	89774838	+	Missense_Mutation	SNP	T	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr16:89774838T>A	uc002fom.1	-	13	1924	c.1799A>T	c.(1798-1800)gAg>gTg	p.E600V	C16orf7_uc002fol.1_Missense_Mutation_p.E530V	NM_004913	NP_004904	Q9Y2B5	CP007_HUMAN	Homo sapiens chromosome 16 open reading frame 7 (C16orf7), mRNA.	600	VPS9.				ATP synthesis coupled proton transport		GTPase activator activity|transporter activity			breast(1)|lung(3)|ovary(1)	5		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0273)		GGTCTACCCCTCGTGGATGAA	0.647000														3			3		0	0	0.009096	0	0
TTN	7273	broad.mit.edu	37	2	179413538	179413538	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:179413538C>T	uc021vsy.1	-	287	85336	c.85111G>A	c.(85111-85113)Gct>Act	p.A28371T	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.A22066T|TTN_uc021vta.1_Missense_Mutation_p.A21999T|TTN_uc021vtb.1_Missense_Mutation_p.A21874T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	29298	Fibronectin type-III 106.						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)			CTGGCCCCAGCTCTAACAACA	0.478000														27			34		0	0	0.013726	0	0
IL17D	53342	broad.mit.edu	37	13	21295856	21295856	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr13:21295856C>T	uc001unm.3	+	2	480	c.372C>T	c.(370-372)ttC>ttT	p.F124F		NM_138284	NP_612141	Q8TAD2	IL17D_HUMAN	Homo sapiens interleukin 17D (IL17D), mRNA.	124					inflammatory response	extracellular space	cytokine activity			endometrium(1)|skin(1)	2		all_cancers(29;9.63e-24)|all_epithelial(30;1.09e-19)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000301)|Epithelial(112;0.000633)|OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Lung(94;0.0154)|LUSC - Lung squamous cell carcinoma(192;0.0414)		CCGGGCTGTTCGGCGAGGAGG	0.706000														34			20		0	0	0.010504	0	0
KRT80	144501	broad.mit.edu	37	12	52566020	52566020	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:52566020G>A	uc001rzw.3	-	4	1296	c.1245C>T	c.(1243-1245)atC>atT	p.I415I	KRT80_uc001rzy.3_Silent_p.I380I|KRT80_uc001rzx.3_Silent_p.I380I	NM_182507	NP_872313	Q6KB66	K2C80_HUMAN	Homo sapiens keratin 80 (KRT80), transcript variant 1, mRNA.	380	Tail.					keratin filament	structural molecule activity			endometrium(2)|large_intestine(2)|lung(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.108)		TGTAGGTGGCGATCTCGATGT	0.667000														52			35		0	0	0.005524	0	0
HEATR7B2	133558	broad.mit.edu	37	5	41054941	41054941	+	Splice_Site	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:41054941C>T	uc003jmj.4	-	11	1524	c.1034_splice	c.e11-1	p.E345_splice	HEATR7B2_uc003jmi.4_Intron	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	345							binding			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4)	133						TCAACCTGGGCTCTGAAAGAC	0.378000														29			25		0	0	0.008361	0	0
ADCY1	107	broad.mit.edu	37	7	45719389	45719389	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:45719389C>T	uc003tne.4	+	10	1998	c.1980C>T	c.(1978-1980)gtC>gtT	p.V660V		NM_021116	NP_066939	Q08828	ADCY1_HUMAN	Homo sapiens adenylate cyclase 1 (brain) (ADCY1), mRNA.	660					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	TCACCCGGGTCCAGGTATGTG	0.552000														42			23		0	0	0.005443	0	0
SLC16A14	151473	broad.mit.edu	37	2	230911037	230911037	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:230911037C>T	uc002vqd.2	-	3	1264	c.805G>A	c.(805-807)Gat>Aat	p.D269N	FBXO36_uc010fxi.1_Intron|SLC16A14_uc002vqe.3_Missense_Mutation_p.D269N|SLC16A14_uc002vqf.3_Missense_Mutation_p.D269N	NM_152527	NP_689740	Q7RTX9	MOT14_HUMAN	Homo sapiens solute carrier family 16, member 14 (monocarboxylic acid transporter 14) (SLC16A14), mRNA.	269						integral to membrane|plasma membrane	symporter activity			NS(1)|cervix(1)|endometrium(7)|large_intestine(7)|lung(3)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948)		CCGGCCTGATCGGGGCACTCC	0.577000														58			47		0	0	0.014410	0	0
SLC26A3	1811	broad.mit.edu	37	7	107420173	107420173	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:107420173C>T	uc003ver.2	-	11	1558	c.1347G>A	c.(1345-1347)aaG>aaA	p.K449K	SLC26A3_uc003ves.2_Silent_p.K414K	NM_000111	NP_000102	P40879	S26A3_HUMAN	Homo sapiens solute carrier family 26, member 3 (SLC26A3), mRNA.	449					excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						TCAGCATTCCCTTTAAGTTTC	0.383000														18			35		0	0	0.007835	0	0
GPR155	151556	broad.mit.edu	37	2	175326182	175326182	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:175326182C>T	uc002uit.3	-	9	1899	c.1508G>A	c.(1507-1509)gGa>gAa	p.G503E	GPR155_uc002uiu.3_Missense_Mutation_p.G503E|GPR155_uc002uiv.3_Missense_Mutation_p.G503E|GPR155_uc010fqs.3_Missense_Mutation_p.G475E	NM_001033045	NP_689742	Q7Z3F1	GP155_HUMAN	Homo sapiens G protein-coupled receptor 155 (GPR155), transcript variant 9, mRNA.	503					intracellular signal transduction|transmembrane transport	integral to membrane				breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	26						ATTGTGTTTTCCAGTTATCAA	0.373000														57			63		0	0	0.014410	0	0
KDM6A	7403	broad.mit.edu	37	X	44950036	44950036	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:44950036C>T	uc011mkz.2	+	26	4336	c.3961C>T	c.(3961-3963)Ccc>Tcc	p.P1321S	KDM6A_uc004dge.4_Missense_Mutation_p.P1269S|KDM6A_uc011mla.2_Missense_Mutation_p.P1224S|KDM6A_uc011mlb.2_Missense_Mutation_p.P1276S|KDM6A_uc011mlc.2_Missense_Mutation_p.P973S|KDM6A_uc022bvj.1_Missense_Mutation_p.P1190S|KDM6A_uc022bvk.1_Non-coding_Transcript|KDM6A_uc011mld.2_Missense_Mutation_p.P908S	NM_021140	NP_066963	O15550	KDM6A_HUMAN	Homo sapiens lysine (K)-specific demethylase 6A (KDM6A), mRNA.	1269					histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0?(6)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						GTCAATAGTACCCATGGTTCA	0.368000			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""									50			38		0	0	0.006230	0	0
SULT1C3	442038	broad.mit.edu	37	2	108881742	108881742	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:108881742G>A	uc010ywo.2	+	6	850	c.850G>A	c.(850-852)Gaa>Aaa	p.E284K		NM_001008743	NP_001008743	Q6IMI6	ST1C3_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 1C, member 3 (SULT1C3), mRNA.	284						cytoplasm	alcohol sulfotransferase activity			breast(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(4)	16						CCAAAATGAAGAATTTGACAA	0.473000														53			43		0	0	0.014410	0	0
KCNQ3	3786	broad.mit.edu	37	8	133141958	133141959	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr8:133141958_133141959CC>TT	uc003ytj.3	-	14	2394_2395	c.2169_2170GG>AA	c.(2167-2172)ggggga>ggAAga	p.G724R	KCNQ3_uc003yti.3_Missense_Mutation_p.G604R|KCNQ3_uc010mdt.3_Missense_Mutation_p.G712R	NM_004519	NP_004510	O43525	KCNQ3_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 3 (KCNQ3), transcript variant 1, mRNA.	724					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			GAACTGGGTCCCCCTCGGGGCA	0.579000														20			18		0	0	0.004672	0	0
GALNT4	8693	broad.mit.edu	37	12	89917457	89917457	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:89917457G>A	uc001tbd.3	-	0	1127	c.870C>T	c.(868-870)ccC>ccT	p.P290P	GALNT4_uc001tba.3_Intron|GALNT4_uc001tbb.3_Intron|GALNT4_uc010sun.2_Intron|GALNT4_uc001tbc.3_Intron|GALNT4_uc001tbe.3_Silent_p.P287P|GALNT4_uc010suo.2_Intron	NM_003774	NP_003765	Q8N4A0	GALT4_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 4 (GalNAc-T4) (GALNT4), mRNA.	290					carbohydrate metabolic process	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			endometrium(4)|kidney(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)	14						TTTCCTGTTTGGGGACAGAAT	0.443000														31			26		0	0	0.005443	0	0
ZNF836	162962	broad.mit.edu	37	19	52663788	52663789	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:52663788_52663789GG>AA	uc010ydj.2	-	3	593_594	c.71_72CC>TT	c.(70-72)tcc>tTT	p.S24F	ZNF836_uc010ydi.2_Missense_Mutation_p.S24F	NM_001102657	NP_001096127	Q6ZNA1	ZN836_HUMAN	Homo sapiens zinc finger protein 836 (ZNF836), mRNA.	24	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						CAGGGTCCAGGGATTTCCACTC	0.441000														68			64		0	0	0.004672	0	0
SKA1	220134	broad.mit.edu	37	18	47918471	47918471	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr18:47918471C>T	uc002let.3	+	6	806	c.622C>T	c.(622-624)Cgt>Tgt	p.R208C	SKA1_uc002leu.3_Missense_Mutation_p.R208C|SKA1_uc010xdl.2_Missense_Mutation_p.R162C	NM_145060	NP_659497	Q96BD8	SKA1_HUMAN	Homo sapiens spindle and kinetochore associated complex subunit 1 (SKA1), transcript variant 2, mRNA.	208					cell division|chromosome segregation|mitotic anaphase|mitotic prometaphase|regulation of microtubule polymerization or depolymerization	condensed chromosome outer kinetochore|cytosol|spindle microtubule	microtubule binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(1)|prostate(1)	13						ATTTTTAGGTCGTTATTTTAT	0.328000														42			36		0	0	0.007835	0	0
SGK196	84197	broad.mit.edu	37	8	42977840	42977840	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr8:42977840C>T	uc003xpw.2	+	4	1132	c.873C>T	c.(871-873)ttC>ttT	p.F291F		NM_032237	NP_115613	Q9H5K3	SG196_HUMAN	Homo sapiens protein kinase-like protein SgK196 (SGK196), mRNA.	291	Protein kinase.					integral to membrane	ATP binding|protein kinase activity										TCTCCAGTTTCCTTCTGGGGC	0.483000														39			24		0	0	0.003330	0	0
UGT2B11	10720	broad.mit.edu	37	4	70070152	70070152	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr4:70070152G>A	uc003heh.3	-	4	1315	c.1306C>T	c.(1306-1308)Cct>Tct	p.P436S	AK124272_uc003hei.1_Intron	NM_001073	NP_001064	O75310	UDB11_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B11 (UGT2B11), mRNA.	436					estrogen metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						ACTCACAAAGGATCATTAATT	0.403000														64			42		0	0	0.014410	0	0
PLEKHG3	26030	broad.mit.edu	37	14	65209875	65209875	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr14:65209875C>T	uc001xhp.2	+	16	3516	c.3477C>T	c.(3475-3477)ccC>ccT	p.P1159P	PLEKHG3_uc001xhn.1_Silent_p.P982P|PLEKHG3_uc001xho.1_Silent_p.P1038P|PLEKHG3_uc010aqh.1_Silent_p.P580P|PLEKHG3_uc001xhq.1_Silent_p.P543P	NM_015549	NP_056364	A1L390	PKHG3_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 3 (PLEKHG3), mRNA.	1038					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		CCCGGAGCCCCCTCAGCCCCA	0.701000														53			43		0	0	0.014410	0	0
OR5I1	10798	broad.mit.edu	37	11	55703736	55703736	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:55703736C>T	uc010ris.2	-	0	141	c.141G>A	c.(139-141)ttG>ttA	p.L47L		NM_006637	NP_006628	Q13606	OR5I1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily I, member 1 (OR5I1), mRNA.	47					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						TCAACAGCATCAATCCAATGT	0.388000														14			12		0	0	0.001855	0	0
GLYCTK	132158	broad.mit.edu	37	3	52326770	52326770	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:52326770C>T	uc003ddo.3	+	4	1296	c.1200C>T	c.(1198-1200)ggC>ggT	p.G400G	GLYCTK_uc003ddq.2_3'UTR|GLYCTK_uc003ddm.3_Intron|GLYCTK_uc003ddn.3_Intron|GLYCTK_uc003ddp.1_Intron|GLYCTK_uc003ddr.3_Silent_p.G64G	NM_145262	NP_660305	Q8IVS8	GLCTK_HUMAN	Homo sapiens glycerate kinase (GLYCTK), transcript variant 1, mRNA.	400					protein phosphorylation	Golgi apparatus|mitochondrion	ATP binding|glycerate kinase activity|protein binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	9				BRCA - Breast invasive adenocarcinoma(193;3.56e-05)|Kidney(197;0.00171)|KIRC - Kidney renal clear cell carcinoma(197;0.00194)|OV - Ovarian serous cystadenocarcinoma(275;0.235)		GGGGAAGGGGCCCAGTCTGCC	0.647000														22			25		0	0	0.004656	0	0
ADAMTS14	140766	broad.mit.edu	37	10	72468448	72468448	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr10:72468448G>A	uc001jrg.3	+	3	784	c.784G>A	c.(784-786)Gag>Aag	p.E262K	ADAMTS14_uc001jrh.3_Missense_Mutation_p.E262K	NM_139155	NP_631894	Q8WXS8	ATS14_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 14 (ADAMTS14), transcript variant 1, mRNA.	262	Peptidase M12B.				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						CTACAGCATCGAGGTGCTGCT	0.612000														51			42		0	0	0.014410	0	0
ELAC2	60528	broad.mit.edu	37	17	12908385	12908385	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr17:12908385G>A	uc002gnz.4	-	10	1021	c.904C>T	c.(904-906)Cct>Tct	p.P302S	ELAC2_uc002gnv.4_5'Flank|ELAC2_uc002gnx.4_Missense_Mutation_p.P62S|ELAC2_uc010vvo.2_Missense_Mutation_p.P125S|ELAC2_uc010vvp.2_Missense_Mutation_p.P283S|ELAC2_uc010vvq.2_Missense_Mutation_p.P302S|ELAC2_uc010vvr.2_Missense_Mutation_p.P262S	NM_018127	NP_060597	Q9BQ52	RNZ2_HUMAN	Homo sapiens elaC homolog 2 (E. coli) (ELAC2), transcript variant 1, mRNA.	302					tRNA processing	nucleus	endonuclease activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|skin(1)	23						GCAGCACCAGGATCTGGAGGA	0.502000														71			62		0	0	0.014410	0	0
ODZ1	10178	broad.mit.edu	37	X	123554651	123554651	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:123554651C>T	uc010nqy.3	-	24	4556	c.4492G>A	c.(4492-4494)Gat>Aat	p.D1498N	ODZ1_uc011muj.2_Missense_Mutation_p.D1497N|ODZ1_uc004euj.3_Missense_Mutation_p.D1491N	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA.	1491					immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			NS(4)|breast(7)|cervix(3)|endometrium(23)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(36)|liver(1)|lung(93)|ovary(13)|pancreas(3)|prostate(2)|skin(10)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	212						ATCTTTGCATCTTTGGCATAG	0.453000														98			37		0	0	0.008740	0	0
DACT3	147906	broad.mit.edu	37	19	47151904	47151904	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:47151904C>T	uc010ekq.3	-	3	1799	c.1725G>A	c.(1723-1725)tgG>tgA	p.W575*		NM_145056	NP_659493	Q96B18	DACT3_HUMAN	Homo sapiens dapper, antagonist of beta-catenin, homolog 3 (Xenopus laevis) (DACT3), mRNA.	575										lung(1)	1		Ovarian(192;0.0798)|all_neural(266;0.107)		OV - Ovarian serous cystadenocarcinoma(262;0.000173)|all cancers(93;0.000464)|Epithelial(262;0.02)|GBM - Glioblastoma multiforme(486;0.0325)		GCTGCTGCGGCCACACGAGGC	0.692000														29			33		0	0	0.009535	0	0
IGHE	3497	broad.mit.edu	37	14	106067385	106067385	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr14:106067385C>T	uc001yrw.1	-	2	528	c.516G>A	c.(514-516)gtG>gtA	p.V172V	abParts_uc021ser.1_Intron|DKFZp686O16217_uc001yrs.3_Intron|DKFZp686O16217_uc001yrt.3_Intron|IGHE_uc001yrx.2_Silent_p.V119V|IGHE_uc001yru.2_5'Flank					RecName: Full=Ig epsilon chain C region;																		TGGACAAGTCCACGTCCATGA	0.627000														8			5		0	0	0.000602	0	0
NLRP13	126204	broad.mit.edu	37	19	56443675	56443675	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:56443675C>T	uc010ygg.2	-	0	28	c.3G>A	c.(1-3)atG>atA	p.M1I		NM_176810	NP_789780	Q86W25	NAL13_HUMAN	Homo sapiens NLR family, pyrin domain containing 13 (NLRP13), mRNA.	1	DAPIN.						ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		CAGAAAAGTTCATCTTGCCCA	0.478000														19			21		0	0	0.012319	0	0
SEC31A	22872	broad.mit.edu	37	4	83772734	83772734	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr4:83772734G>A	uc003hnh.3	-	18	2358	c.2178C>T	c.(2176-2178)atC>atT	p.I726I	SEC31A_uc003hne.3_Silent_p.I459I|SEC31A_uc011ccl.2_Silent_p.I687I|SEC31A_uc003hnl.3_Silent_p.I687I|SEC31A_uc003hng.3_Silent_p.I726I|SEC31A_uc011ccm.2_Silent_p.I721I|SEC31A_uc003hni.3_Silent_p.I726I|SEC31A_uc003hnk.3_Silent_p.I687I|SEC31A_uc003hnf.3_Silent_p.I726I|SEC31A_uc011ccn.2_Silent_p.I726I|SEC31A_uc003hnm.3_Silent_p.I726I|SEC31A_uc003hnn.2_Silent_p.I726I	NM_014933	NP_055748	O94979	SC31A_HUMAN	Homo sapiens SEC31 homolog A (S. cerevisiae) (SEC31A), transcript variant 1, mRNA.	726					COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	calcium-dependent protein binding		SEC31A/ALK(3)|SEC31A/JAK2(4)	breast(1)	1		Hepatocellular(203;0.114)				CTTTTCGCAGGATGACAACTT	0.413000														24			16		0	0	0.004990	0	0
SARDH	1757	broad.mit.edu	37	9	136584065	136584065	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr9:136584065C>T	uc004cep.4	-	6	1149	c.1015G>A	c.(1015-1017)Gag>Aag	p.E339K	SARDH_uc004ceo.3_Missense_Mutation_p.E339K|SARDH_uc011mdo.2_Missense_Mutation_p.E171K|SARDH_uc011mdn.2_Missense_Mutation_p.E339K	NM_001134707	NP_009032	Q9UL12	SARDH_HUMAN	Homo sapiens sarcosine dehydrogenase (SARDH), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	339					glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		CTTACCTCCTCCCAAAAGATG	0.572000														3			18		0	0	0.006122	0	0
KBTBD7	84078	broad.mit.edu	37	13	41766769	41766769	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr13:41766769C>T	uc001uxw.1	-	0	1934	c.1625G>A	c.(1624-1626)gGa>gAa	p.G542E	AK056182_uc001uxv.1_Intron	NM_032138	NP_115514	Q8WVZ9	KBTB7_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 7 (KBTBD7), mRNA.	542							protein binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(4)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669)		CCTCCATTCTCCCCTAGCTGG	0.418000														54			49		0	0	0.014410	0	0
GLYATL1	92292	broad.mit.edu	37	11	58722348	58722348	+	Missense_Mutation	SNP	A	G	G			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:58722348A>G	uc001nnh.2	+	4	435	c.385A>G	c.(385-387)Aaa>Gaa	p.K129E	GLYATL1_uc001nnf.3_Missense_Mutation_p.K98E|LOC283194_uc001nng.1_Intron|GLYATL1_uc001nni.2_Missense_Mutation_p.K98E|GLYATL1_uc001nnj.2_Missense_Mutation_p.K98E	NM_080661	NP_542392	Q969I3	GLYL1_HUMAN	Homo sapiens glycine-N-acyltransferase-like 1 (GLYATL1), transcript variant 1, mRNA.	98						mitochondrion	glycine N-acyltransferase activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1)	34					Glycine(DB00145)	CGTAAACTGGAAACAGAGACT	0.398000														14			6		0	0	0.003080	0	0
PTPRH	5794	broad.mit.edu	37	19	55693499	55693499	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:55693499C>T	uc002qjq.3	-	18	3156	c.3083G>A	c.(3082-3084)gGa>gAa	p.G1028E	PTPRH_uc010esv.3_Missense_Mutation_p.G850E|SYT5_uc002qjm.1_5'Flank|SYT5_uc002qjp.2_5'Flank|SYT5_uc002qjn.1_5'Flank|SYT5_uc002qjo.1_5'Flank	NM_002842	NP_002833	Q9HD43	PTPRH_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, H (PTPRH), transcript variant 1, mRNA.	1028	Tyrosine-protein phosphatase.				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		AATGAGGGTTCCTGTGCGACC	0.612000														37			28		0	0	0.010818	0	0
ORM1	5004	broad.mit.edu	37	9	117085966	117085966	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr9:117085966C>T	uc004bik.4	+	1	249	c.138C>T	c.(136-138)atC>atT	p.I46I	ORM1_uc011lxo.2_Silent_p.I46I	NM_000607	NP_000598	P02763	A1AG1_HUMAN	Homo sapiens orosomucoid 1 (ORM1), mRNA.	46					acute-phase response|regulation of immune system process|transport	extracellular space	protein binding			endometrium(2)|large_intestine(4)|lung(2)	8		Myeloproliferative disorder(63;0.163)			Acenocoumarol(DB01418)|Alfentanil(DB00802)|Aprindine(DB01429)|Disopyramide(DB00280)|Penbutolol(DB01359)|Phenprocoumon(DB00946)|Quinidine(DB00908)|Tamsulosin(DB00706)	GGTTTTATATCGCATCGGCCT	0.507000														37			28		0	0	0.008740	0	0
SPAG17	200162	broad.mit.edu	37	1	118624248	118624248	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:118624248C>T	uc001ehk.2	-	13	1848	c.1780G>A	c.(1780-1782)Gaa>Aaa	p.E594K	SPAG17_uc021oss.1_5'Flank	NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	Homo sapiens sperm associated antigen 17 (SPAG17), mRNA.	594						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)		CGTTCTACTTCATTCCAGCTC	0.458000														4			55		0	0	0.014410	0	0
ABCG1	9619	broad.mit.edu	37	21	43711739	43711739	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr21:43711739G>A	uc011aev.2	+	12	1769	c.1695G>A	c.(1693-1695)ctG>ctA	p.L565L	ABCG1_uc002zam.3_Silent_p.L520L|ABCG1_uc002zan.3_Silent_p.L544L|ABCG1_uc002zao.3_Silent_p.L539L|ABCG1_uc002zap.3_Silent_p.L542L|ABCG1_uc002zaq.3_Silent_p.L554L|ABCG1_uc002zar.3_Silent_p.L553L|ABCG1_uc010gpb.2_Missense_Mutation_p.D195N	NM_004915	NP_004906	P45844	ABCG1_HUMAN	Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 1 (ABCG1), transcript variant 4, mRNA.	554	ABC transmembrane type-2.				amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport	Golgi membrane|endoplasmic reticulum membrane|external side of plasma membrane|recycling endosome	ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1)	29					Adenosine triphosphate(DB00171)	TGGGCCTGCTGATCGGAGCCG	0.667000														12			6		0	0	0.001168	0	0
PLEKHA2	59339	broad.mit.edu	37	8	38808425	38808425	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr8:38808425C>T	uc003xmi.4	+	5	637	c.403C>T	c.(403-405)Cct>Tct	p.P135S	PLEKHA2_uc011lce.2_Missense_Mutation_p.P85S	NM_021623	NP_067636	Q9HB19	PKHA2_HUMAN	Homo sapiens pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 2 (PLEKHA2), mRNA.	135					positive regulation of cell-matrix adhesion	cytoplasm|nucleus|plasma membrane|protein complex	fibronectin binding|laminin binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	13		all_lung(54;0.0413)|Lung NSC(58;0.115)|Hepatocellular(245;0.152)	LUSC - Lung squamous cell carcinoma(45;4.68e-08)|COAD - Colon adenocarcinoma(9;0.235)			CTTAGCAGCTCCTCCAGCCCT	0.577000														24			18		0	0	0.006122	0	0
MAGED1	9500	broad.mit.edu	37	X	51641707	51641707	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:51641707G>A	uc004dpn.3	+	10	2170	c.1980G>A	c.(1978-1980)agG>agA	p.R660R	MAGED1_uc004dpm.3_Silent_p.R604R|MAGED1_uc004dpo.3_Silent_p.R604R	NM_001005333	NP_001005333	Q9Y5V3	MAGD1_HUMAN	Homo sapiens melanoma antigen family D, 1 (MAGED1), transcript variant 1, mRNA.	604	MAGE.				apoptosis|induction of apoptosis by extracellular signals|negative regulation of epithelial cell proliferation|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|plasma membrane|protein complex	protein binding			breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	32	Ovarian(276;0.236)					GAGATCTAAGGAAACTTCTCA	0.448000										Multiple Myeloma(10;0.10)				18			23		0	0	0.007291	0	0
RHPN1	114822	broad.mit.edu	37	8	144463858	144463858	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr8:144463858C>T	uc003yyb.3	+	12	1738	c.1605C>T	c.(1603-1605)atC>atT	p.I535I		NM_052924	NP_443156	Q8TCX5	RHPN1_HUMAN	Homo sapiens rhophilin, Rho GTPase binding protein 1 (RHPN1), mRNA.	560					signal transduction	intracellular				endometrium(1)|large_intestine(1)|lung(7)	9	all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.156)			CTGTCCTCATCGCTGCCGTCA	0.701000														9			5		0	0	0.001168	0	0
OR2C1	4993	broad.mit.edu	37	16	3406010	3406010	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr16:3406010G>A	uc002cuw.1	+	0	122	c.70G>A	c.(70-72)Gag>Aag	p.E24K		NM_012368	NP_036500	O95371	OR2C1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily C, member 1 (OR2C1), mRNA.	24					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						TCCCCAGCTGGAGATGATCTT	0.498000														39			42		0	0	0.010771	0	0
YIPF1	54432	broad.mit.edu	37	1	54332570	54332570	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:54332570G>A	uc001cvu.3	-	7	880	c.509C>T	c.(508-510)gCc>gTc	p.A170V	YIPF1_uc001cvv.3_Non-coding_Transcript|YIPF1_uc001cvx.3_Non-coding_Transcript|YIPF1_uc001cvy.3_Non-coding_Transcript	NM_018982	NP_061855	Q9Y548	YIPF1_HUMAN	Homo sapiens Yip1 domain family, member 1 (YIPF1), transcript variant 1, mRNA.	170						integral to membrane|transport vesicle				endometrium(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|skin(1)|urinary_tract(2)	19						CCAGGCATAGGCATAGATGAT	0.453000														2			55		0	0	0.014410	0	0
ZKSCAN3	80317	broad.mit.edu	37	6	28327526	28327526	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr6:28327526C>T	uc010jrc.3	+	2	496	c.163C>T	c.(163-165)Ccg>Tcg	p.P55S	ZKSCAN3_uc003nle.4_Missense_Mutation_p.P55S|ZKSCAN3_uc003nlf.4_Intron	NM_001242894	NP_001229823	Q9BRR0	ZKSC3_HUMAN	Homo sapiens zinc finger with KRAB and SCAN domains 3 (ZKSCAN3), transcript variant 1, mRNA.	55	SCAN box.				positive regulation of transcription, DNA-dependent|viral reproduction	nucleus	DNA binding|chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			kidney(4)|large_intestine(3)|lung(8)|pancreas(1)|skin(2)|stomach(2)|urinary_tract(1)	21						CTTCCGCTACCCGGAGGCTGC	0.637000														84			37		0	0	0.004289	0	0
TNN	63923	broad.mit.edu	37	1	175046622	175046622	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:175046622C>T	uc001gkl.1	+	1	181	c.68C>T	c.(67-69)tCg>tTg	p.S23L	TNN_uc010pmx.1_Missense_Mutation_p.S23L	NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	Homo sapiens tenascin N (TNN), mRNA.	23					cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		p.S23L(4)|p.A22S(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		CTGGTGGCTTCGGCCCCAGCC	0.592000														4			100		0	0	0.014410	0	0
FRMD8	83786	broad.mit.edu	37	11	65172502	65172502	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:65172502G>A	uc001odu.4	+	9	1431	c.1239G>A	c.(1237-1239)cgG>cgA	p.R413R	FRMD8_uc009yqj.3_Silent_p.R357R|FRMD8_uc010rof.2_Silent_p.R379R	NM_031904	NP_114110	Q9BZ67	FRMD8_HUMAN	Homo sapiens FERM domain containing 8 (FRMD8), mRNA.	413						cytoskeleton	binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|urinary_tract(1)	17						TGTCCAGCCGGATCCAGCATC	0.652000														31			22		0	0	0.005443	0	0
UNC5C	8633	broad.mit.edu	37	4	96140146	96140146	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr4:96140146C>T	uc003hto.3	-	8	1972	c.1619G>A	c.(1618-1620)gGa>gAa	p.G540E	UNC5C_uc010ilc.2_Missense_Mutation_p.G559E|UNC5C_uc003htq.3_Missense_Mutation_p.G559E	NM_003728	NP_003719	O95185	UNC5C_HUMAN	Homo sapiens unc-5 homolog C (C. elegans) (UNC5C), mRNA.	540	ZU5.				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		AAGGTGACCTCCCAGCGAGTT	0.443000														44			33		0	0	0.004878	0	0
EFCAB6	64800	broad.mit.edu	37	22	44022392	44022392	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr22:44022392C>T	uc003bdy.2	-	19	2714	c.2400G>A	c.(2398-2400)cgG>cgA	p.R800R	EFCAB6_uc003bdz.2_Silent_p.R648R|EFCAB6_uc010gzi.2_Silent_p.R648R|EFCAB6_uc010gzj.1_Silent_p.R98R|EFCAB6_uc010gzk.1_Non-coding_Transcript	NM_022785	NP_942153	Q5THR3	EFCB6_HUMAN	Homo sapiens EF-hand calcium binding domain 6 (EFCAB6), transcript variant 1, mRNA.	800			R -> W (in dbSNP:rs6006514).		regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				TTTGAAATTCCCGAAAATTTA	0.433000														21			22		0	0	0.010504	0	0
LUZP2	338645	broad.mit.edu	37	11	24759789	24759789	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:24759789G>A	uc001mqs.3	+	3	548	c.274G>A	c.(274-276)Gag>Aag	p.E92K	LUZP2_uc009yif.3_Missense_Mutation_p.E6K|LUZP2_uc009yig.3_Missense_Mutation_p.E92K	NM_001009909	NP_001009909	Q86TE4	LUZP2_HUMAN	Homo sapiens leucine zipper protein 2 (LUZP2), transcript variant 1, mRNA.	92						extracellular region				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	32						GTCTCTTCAGGAGGCCCTGCA	0.368000														24			27		0	0	0.010818	0	0
FBXO47	494188	broad.mit.edu	37	17	37093532	37093532	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr17:37093532C>T	uc002hrc.2	-	10	1455	c.1255G>A	c.(1255-1257)Gaa>Aaa	p.E419K		NM_001008777	NP_001008777	Q5MNV8	FBX47_HUMAN	Homo sapiens F-box protein 47 (FBXO47), mRNA.	419										NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	20						CTGTCATCTTCATCACGGTCT	0.328000														21			17		0	0	0.007413	0	0
ODZ1	10178	broad.mit.edu	37	X	123871003	123871003	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:123871003G>A	uc010nqy.3	-	3	644	c.580C>T	c.(580-582)Cca>Tca	p.P194S	ODZ1_uc011muj.2_Missense_Mutation_p.P194S|ODZ1_uc004euj.3_Missense_Mutation_p.P194S	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA.	194	Poly-Pro.|Teneurin N-terminal.				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			NS(4)|breast(7)|cervix(3)|endometrium(23)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(36)|liver(1)|lung(93)|ovary(13)|pancreas(3)|prostate(2)|skin(10)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	212						GGTGGCGGTGGGAGGGGTCTG	0.567000														13			41		0	0	0.006230	0	0
SELE	6401	broad.mit.edu	37	1	169699697	169699697	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:169699697C>T	uc001ggm.4	-	4	748	c.591G>A	c.(589-591)ctG>ctA	p.L197L	C1orf112_uc001ggj.3_Intron	NM_000450	NP_000441	P16581	LYAM2_HUMAN	Homo sapiens selectin E (SELE), mRNA.	197	Sushi 1.				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)					TGAAGTTTCCCAGTGGGTGAC	0.493000														1			108		0	0	0.014410	0	0
UNC5D	137970	broad.mit.edu	37	8	35406841	35406841	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr8:35406841C>T	uc003xjr.2	+	1	463	c.135C>T	c.(133-135)tcC>tcT	p.S45S	UNC5D_uc003xjs.2_Silent_p.S40S	NM_080872	NP_543148	Q6UXZ4	UNC5D_HUMAN	Homo sapiens unc-5 homolog D (C. elegans) (UNC5D), mRNA.	45					apoptosis|axon guidance	integral to membrane	receptor activity			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)		TTCCCGAATCCATCCCATCAG	0.473000														35			32		0	0	0.003271	0	0
DNAI2	64446	broad.mit.edu	37	17	72308292	72308292	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr17:72308292G>A	uc002jkf.3	+	11	1755	c.1645G>A	c.(1645-1647)Gag>Aag	p.E549K	DNAI2_uc002jkg.3_Missense_Mutation_p.E537K|DNAI2_uc010dfp.3_Intron|BX648926_uc002jkh.1_5'Flank|DNAI2_uc002jki.3_Non-coding_Transcript	NM_023036	NP_075462	Q9GZS0	DNAI2_HUMAN	Homo sapiens dynein, axonemal, intermediate chain 2 (DNAI2), transcript variant 1, mRNA.	549					cilium assembly	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						CAGCAAGGCCGAGGAGGAGTT	0.612000									Kartagener syndrome					7			9		0	0	0.006214	0	0
PSD4	23550	broad.mit.edu	37	2	113940135	113940135	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:113940135G>A	uc002tjc.3	+	1	285	c.102G>A	c.(100-102)agG>agA	p.R34R	PSD4_uc002tjd.3_5'UTR|PSD4_uc002tje.3_Silent_p.R33R|PSD4_uc002tjf.3_5'Flank	NM_012455	NP_036587	Q8NDX1	PSD4_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing 4 (PSD4), mRNA.	34					regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AGTGCCCAAGGGAAACGTGCA	0.587000														25			29		0	0	0.013726	0	0
CNDP1	84735	broad.mit.edu	37	18	72228156	72228156	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr18:72228156G>A	uc002llq.3	+	3	580	c.369G>A	c.(367-369)acG>acA	p.T123T	BC047599_uc002llr.3_5'Flank	NM_032649	NP_116038	Q96KN2	CNDP1_HUMAN	Homo sapiens carnosine dipeptidase 1 (metallopeptidase M20 family) (CNDP1), mRNA.	123					proteolysis	extracellular region	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity|tripeptidase activity	p.T123M(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27		Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211)		BRCA - Breast invasive adenocarcinoma(31;0.109)		GCGATCCCACGAAAGGCACCG	0.577000														57			50		0	0	0.014410	0	0
USP29	57663	broad.mit.edu	37	19	57642176	57642176	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:57642176C>T	uc002qny.3	+	3	2489	c.2133C>T	c.(2131-2133)tcC>tcT	p.S711S	USP29_uc021vci.1_Silent_p.S711S	NM_020903	NP_065954	Q9HBJ7	UBP29_HUMAN	Homo sapiens ubiquitin specific peptidase 29 (USP29), mRNA.	711					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TCACTGAGTCCACCAATGGCT	0.423000														30			17		0	0	0.006122	0	0
LOC146880	146880	broad.mit.edu	37	17	62750150	62750150	+	RNA	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr17:62750150G>A	uc010wqc.2	-	9		c.2208C>T								Homo sapiens Rho GTPase activating protein 27 pseudogene (LOC146880), non-coding RNA.																		TGGCATCCAGGATAACCAGAA	0.378000														162			134		0	0	0.014410	0	0
USP49	25862	broad.mit.edu	37	6	41774027	41774027	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr6:41774027G>A	uc003ori.3	-	3	917	c.695C>T	c.(694-696)tCa>tTa	p.S232L		NM_018561	NP_061031	Q70CQ1	UBP49_HUMAN	Homo sapiens ubiquitin specific peptidase 49 (USP49), mRNA.	232					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)|skin(2)	23	Ovarian(28;0.0919)|Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CACTCTGCGTGAGGTAGGGAg	0.736000														20			10		0	0	0.006214	0	0
ZNF382	84911	broad.mit.edu	37	19	37118187	37118187	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:37118187C>T	uc002oek.3	+	4	1501	c.1388C>T	c.(1387-1389)cCc>cTc	p.P463L	ZNF382_uc010efa.3_Missense_Mutation_p.P414L|ZNF382_uc010efb.3_Missense_Mutation_p.P462L|ZNF382_uc002oel.3_Missense_Mutation_p.P462L	NM_032825	NP_116214	Q96SR6	ZN382_HUMAN	Homo sapiens zinc finger protein 382 (ZNF382), mRNA.	463	Required for transcriptional repression activity; probably mediates sequence- specific DNA-binding (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	34	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			GGGGAAAAACCCTATATTTGT	0.453000														13			21		0	0	0.014323	0	0
TRIM33	51592	broad.mit.edu	37	1	114942115	114942115	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:114942115G>A	uc001eew.3	-	17	3168	c.3084C>T	c.(3082-3084)gtC>gtT	p.V1028V	TRIM33_uc010owr.2_Silent_p.V642V|TRIM33_uc010ows.2_Silent_p.V660V|TRIM33_uc001eex.3_Silent_p.V1028V	NM_015906	NP_056990	Q9UPN9	TRI33_HUMAN	Homo sapiens tripartite motif containing 33 (TRIM33), transcript variant a, mRNA.	1028	Bromo.				negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	nucleus	DNA binding|R-SMAD binding|co-SMAD binding|ligase activity|zinc ion binding			breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGATCAAACGGACATCGGCCA	0.343000			T	RET	papillary thyroid									10			164		0	0	0.014410	0	0
ADH1B	125	broad.mit.edu	37	4	100232728	100232728	+	Missense_Mutation	SNP	T	C	C			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr4:100232728T>C	uc003hus.4	-	6	998	c.914A>G	c.(913-915)aAc>aGc	p.N305S	ADH1B_uc003hut.4_Missense_Mutation_p.N265S|ADH1B_uc011ceh.2_Missense_Mutation_p.N150S|ADH1B_uc011cei.1_Missense_Mutation_p.N265S	NM_000668	NP_000659	P00325	ADH1B_HUMAN	Homo sapiens alcohol dehydrogenase 1B (class I), beta polypeptide (ADH1B), mRNA.	305					ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Fomepizole(DB01213)|NADH(DB00157)	CAGCATAGGGTTTATTGAGAG	0.473000														99			81		0	0	0.014410	0	0
OR1B1	347169	broad.mit.edu	37	9	125391515	125391515	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr9:125391515C>T	uc011lyz.2	-	0	300	c.300G>A	c.(298-300)ttG>ttA	p.L100L		NM_001004450	NP_001004450	Q8NGR6	OR1B1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily B, member 1 (OR1B1), mRNA.	100					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)	16						AGAACTGAGCCAAGCAGCGGG	0.517000														3			15		0	0	0.002450	0	0
GK2	2712	broad.mit.edu	37	4	80329056	80329056	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr4:80329056C>T	uc003hlu.3	-	0	317	c.299G>A	c.(298-300)tGg>tAg	p.W100*		NM_033214	NP_149991	Q14410	GLPK2_HUMAN	Homo sapiens glycerol kinase 2 (GK2), mRNA.	100					glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity			autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						TAACTTGTCCCAGATTACAGT	0.408000														56			46		0	0	0.014410	0	0
ATP7A	538	broad.mit.edu	37	X	77244104	77244104	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:77244104C>T	uc004ecx.4	+	2	647	c.487C>T	c.(487-489)Cat>Tat	p.H163Y	ATP7A_uc004ecw.2_Missense_Mutation_p.H163Y	NM_000052	NP_000043	Q04656	ATP7A_HUMAN	Homo sapiens ATPase, Cu++ transporting, alpha polypeptide (ATP7A), mRNA.	163					ATP biosynthetic process|T-helper cell differentiation|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						TTGTGAAGATCATAGTATGGC	0.423000														102			88		0	0	0.014410	0	0
ITPR1	3708	broad.mit.edu	37	3	4856858	4856858	+	Missense_Mutation	SNP	A	G	G			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:4856858A>G	uc003bqc.3	+	57	8128	c.7778A>G	c.(7777-7779)aAg>aGg	p.K2593R	ITPR1_uc021wsi.1_Missense_Mutation_p.K2560R|ITPR1_uc021wsj.1_Missense_Mutation_p.K2545R|ITPR1_uc011asu.2_Missense_Mutation_p.K571R|ITPR1_uc010hcc.2_Missense_Mutation_p.K328R|ITPR1_uc011asv.2_Missense_Mutation_p.K284R	NM_001168272	NP_001161744	Q14643	ITPR1_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 1 (ITPR1), transcript variant 3, mRNA.	2608					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		AGGAGTGAGAAGCAGAAGAAG	0.478000														28			17		0	0	0.004007	0	0
ITIH1	3697	broad.mit.edu	37	3	52825909	52825909	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:52825909C>T	uc003dfs.3	+	21	2748	c.2718C>T	c.(2716-2718)atC>atT	p.I906I	ITIH1_uc010hmn.2_Non-coding_Transcript|ITIH1_uc021wzf.1_Silent_p.I764I|ITIH1_uc021wzg.1_Silent_p.I618I|ITIH1_uc021wzh.1_Silent_p.I618I|ITIH1_uc003dft.3_3'UTR|ITIH3_uc003dfv.2_5'Flank|ITIH3_uc011bek.1_5'Flank	NM_002215	NP_002206	P19827	ITIH1_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain 1 (ITIH1), transcript variant 1, mRNA.	906	Hyaluronan-binding.				hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		CTGATTATATCGTCCCCGACA	0.597000														21			9		0	0	0.006214	0	0
ALPK2	115701	broad.mit.edu	37	18	56191279	56191279	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr18:56191279G>A	uc002lhj.4	-	6	5731	c.5517C>T	c.(5515-5517)tcC>tcT	p.S1839S		NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN	Homo sapiens alpha-kinase 2 (ALPK2), mRNA.	1839	Ig-like 2.						ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						AGGAAACAGTGGAGTTGTCCC	0.428000														19			26		0	0	0.006320	0	0
CYP2C9	1559	broad.mit.edu	37	10	96701699	96701699	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr10:96701699G>A	uc001kka.4	+	1	278	c.253G>A	c.(253-255)Gaa>Aaa	p.E85K	CYP2C9_uc009xut.3_Missense_Mutation_p.E85K|CYP2C9_uc001kjz.3_Missense_Mutation_p.E85K	NM_000771	NP_000762	P11712	CP2C9_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 9 (CYP2C9), mRNA.	85					exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)	AGCAGTGAAGGAAGCCCTGAT	0.473000														92			82		0	0	0.014410	0	0
CLDN14	23562	broad.mit.edu	37	21	37833619	37833619	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr21:37833619G>A	uc021wja.1	-	0	375	c.375C>T	c.(373-375)ttC>ttT	p.F125F	CLDN14_uc002yvn.1_Silent_p.F125F|CLDN14_uc002yvo.1_Silent_p.F125F|CLDN14_uc002yvk.1_Silent_p.F125F|CLDN14_uc002yvl.1_Silent_p.F125F|CLDN14_uc002yvm.1_Silent_p.F125F	NM_144492	NP_652763	O95500	CLD14_HUMAN	Homo sapiens claudin 14 (CLDN14), transcript variant 1, mRNA.	125					calcium-independent cell-cell adhesion|protein complex assembly|tight junction assembly	endoplasmic reticulum|integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(1)|lung(5)|skin(1)	7						CGGCCAGGATGAAGAGGGTGC	0.647000														31			22		0	0	0.006320	0	0
ZNF831	128611	broad.mit.edu	37	20	57829327	57829327	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr20:57829327G>A	uc002yan.3	+	4	4563	c.4563G>A	c.(4561-4563)ggG>ggA	p.G1521G		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	Homo sapiens zinc finger protein 831 (ZNF831), mRNA.	1521						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					AGACTGCAGGGAGGACTCTGA	0.522000														14			14		0	0	0.002450	0	0
POTEF	728378	broad.mit.edu	37	2	130877834	130877834	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:130877834G>A	uc010fmh.2	-	2	655	c.255C>T	c.(253-255)gaC>gaT	p.D85D		NM_001099771	NP_001093241	A5A3E0	POTEF_HUMAN	Homo sapiens POTE ankyrin domain family, member F (POTEF), mRNA.	85						cell cortex	ATP binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						AGTCGTCGTGGTCTCCAGAAG	0.607000														238			35		0	0	0.014410	0	0
C7orf45	136263	broad.mit.edu	37	7	129856019	129856019	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:129856019G>A	uc003vpp.3	+	2	491	c.444G>A	c.(442-444)acG>acA	p.T148T		NM_145268	NP_660311	Q8WWF3	CG045_HUMAN	Homo sapiens chromosome 7 open reading frame 45 (C7orf45), mRNA.	148						integral to membrane				endometrium(2)|kidney(1)|lung(6)|ovary(1)	10	Melanoma(18;0.0435)					GTGATACTACGGAGTATGGCA	0.483000														72			30		0	0	0.012213	0	0
ADAMTS15	170689	broad.mit.edu	37	11	130343277	130343277	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:130343277G>A	uc010scd.2	+	7	2414	c.2414G>A	c.(2413-2415)cGg>cAg	p.R805Q		NM_139055	NP_620686	Q8TE58	ATS15_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 15 (ADAMTS15), mRNA.	805	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.R805L(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		AAAGAGCCTCGGGAGGACAAG	0.652000														8			72		0	0	0.014410	0	0
APBA1	320	broad.mit.edu	37	9	72131823	72131823	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr9:72131823C>T	uc004ahh.2	-	1	580	c.304G>A	c.(304-306)Gac>Aac	p.D102N		NM_001163	NP_001154	Q02410	APBA1_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family A, member 1 (APBA1), mRNA.	102					axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle				endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						TCGTAGCCGTCGCGGGCCGCG	0.716000														0			5		0	0	0.001984	0	0
C5AR1	728	broad.mit.edu	37	19	47823646	47823646	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:47823646C>T	uc002pgj.1	+	1	661	c.612C>T	c.(610-612)atC>atT	p.I204I		NM_001736	NP_001727	P21730	C5AR_HUMAN	Homo sapiens complement component 5a receptor 1 (C5AR1), mRNA.	204					activation of MAPK activity|activation of phospholipase C activity|cellular defense response|elevation of cytosolic calcium ion concentration|immune response|sensory perception of chemical stimulus	integral to plasma membrane	C5a anaphylatoxin receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)	20		all_cancers(25;2e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;0.000267)|OV - Ovarian serous cystadenocarcinoma(262;0.000618)|Epithelial(262;0.0142)|GBM - Glioblastoma multiforme(486;0.0242)		CCGTGGCCATCGTCCGGCTGG	0.627000														69			41		0	0	0.014410	0	0
PAPOLA	10914	broad.mit.edu	37	14	96991699	96991699	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr14:96991699G>A	uc001yfq.3	+	3	519	c.302G>A	c.(301-303)gGa>gAa	p.G101E	PAPOLA_uc001yfp.3_Missense_Mutation_p.G101E|PAPOLA_uc001yfo.3_Missense_Mutation_p.G101E|PAPOLA_uc001yfr.3_Missense_Mutation_p.G101E|PAPOLA_uc010twv.2_Missense_Mutation_p.G101E|PAPOLA_uc010avp.3_5'UTR	NM_032632	NP_116021	P51003	PAPOA_HUMAN	Homo sapiens poly(A) polymerase alpha (PAPOLA), transcript variant 1, mRNA.	101					mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cytoplasm|nucleoplasm	ATP binding|RNA binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity			breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.213)		TTTACATTTGGATCTTACAGA	0.328000														72			5		0	0	0.000602	0	0
FREM1	158326	broad.mit.edu	37	9	14857629	14857629	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr9:14857629C>T	uc003zlm.3	-	5	1566	c.750G>A	c.(748-750)ctG>ctA	p.L250L	FREM1_uc010mic.3_Non-coding_Transcript	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	Homo sapiens FRAS1 related extracellular matrix 1 (FREM1), transcript variant 1, mRNA.	250					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		AAGGGGGATCCAGATGCTGAT	0.478000														67			49		0	0	0.014410	0	0
MYH1	4619	broad.mit.edu	37	17	10401113	10401113	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr17:10401113C>T	uc002gmo.3	-	30	4397	c.4303G>A	c.(4303-4305)Gat>Aat	p.D1435N	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	1435						muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity	p.D1435N(2)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CTCTCAACATCAATCATGAGG	0.458000														50			42		0	0	0.014410	0	0
RGS21	431704	broad.mit.edu	37	1	192321268	192321268	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:192321268G>A	uc001gsh.3	+	3	354	c.180G>A	c.(178-180)acG>acA	p.T60T		NM_001039152	NP_001034241	Q2M5E4	RGS21_HUMAN	Homo sapiens regulator of G-protein signaling 21 (RGS21), mRNA.	60	RGS.				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			NS(1)|endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	15						TTAAGAAAACGAAAAATGCAG	0.353000														2			74		0	0	0.014410	0	0
SHC4	399694	broad.mit.edu	37	15	49254922	49254922	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr15:49254922G>A	uc001zxb.1	-	0	720	c.291C>T	c.(289-291)aaC>aaT	p.N97N		NM_203349	NP_976224	Q6S5L8	SHC4_HUMAN	Homo sapiens SHC (Src homology 2 domain containing) family, member 4 (SHC4), mRNA.	97	CH2.				intracellular signal transduction	cell junction|postsynaptic membrane				breast(1)|endometrium(2)|large_intestine(8)|lung(11)|ovary(3)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	29		all_lung(180;0.00466)		all cancers(107;9.4e-08)|GBM - Glioblastoma multiforme(94;5.94e-07)		AAGTGGCCGGGTTGGCCAGCT	0.617000														44			38		0	0	0.006999	0	0
F2RL2	2151	broad.mit.edu	37	5	75914364	75914364	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:75914364C>T	uc003kem.3	-	1	353	c.168G>A	c.(166-168)ttG>ttA	p.L56L	IQGAP2_uc003kek.3_Intron|IQGAP2_uc010izv.2_Intron|IQGAP2_uc011csv.2_Intron|IQGAP2_uc003kel.3_Intron|F2RL2_uc011csw.2_Silent_p.L34L	NM_004101	NP_004092	O00254	PAR3_HUMAN	Homo sapiens coagulation factor II (thrombin) receptor-like 2 (F2RL2), mRNA.	56					platelet activation	extracellular region|integral to plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|thrombin receptor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(3)	32		all_lung(232;0.000462)|Lung NSC(167;0.00124)|Prostate(461;0.00955)|Ovarian(174;0.0129)		all cancers(79;4.43e-43)		TCCAGCCTTCCAAGGCAGAAA	0.448000														77			72		0	0	0.014410	0	0
MAP7D2	256714	broad.mit.edu	37	X	20034406	20034406	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:20034406C>T	uc010nfo.2	-	10	1567	c.1450G>A	c.(1450-1452)Gaa>Aaa	p.E484K	MAP7D2_uc004czq.2_Missense_Mutation_p.E328K|MAP7D2_uc011mji.2_Missense_Mutation_p.E391K|MAP7D2_uc004czr.2_Missense_Mutation_p.E443K|MAP7D2_uc011mjj.2_Missense_Mutation_p.E398K	NM_001168465	NP_001161937	Q96T17	MA7D2_HUMAN	Homo sapiens MAP7 domain containing 2 (MAP7D2), transcript variant 1, mRNA.	443										NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	37						cgaagcctttcctcctctgcc	0.458000														22			23		0	0	0.002780	0	0
TDRD6	221400	broad.mit.edu	37	6	46660568	46660568	+	Missense_Mutation	SNP	C	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr6:46660568C>A	uc003oyj.3	+	0	4957	c.4703C>A	c.(4702-4704)cCt>cAt	p.P1568H	TDRD6_uc010jze.3_Missense_Mutation_p.P1568H	NM_001010870	NP_001010870	O60522	TDRD6_HUMAN	Homo sapiens tudor domain containing 6 (TDRD6), transcript variant 1, mRNA.	1568	Tudor 7.				cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			ATCCCATGTCCTTATATTGGA	0.383000														37			18		2.4624e-09	3.32679e-09	0.008871	1	0
C6	729	broad.mit.edu	37	5	41199975	41199975	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:41199975C>T	uc003jmk.2	-	3	550	c.340G>A	c.(340-342)Gga>Aga	p.G114R	C6_uc003jml.1_Missense_Mutation_p.G114R	NM_000065	NP_001108603	P13671	CO6_HUMAN	Homo sapiens complement component 6 (C6), transcript variant 1, mRNA.	114	TSP type-1 2.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	p.G113V(1)		central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				CATGGCTGTCCCCCAAACTGA	0.448000														18			13		0	0	0.013537	0	0
CD207	50489	broad.mit.edu	37	2	71062644	71062644	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:71062644G>A	uc002shg.3	-	1	215	c.168C>T	c.(166-168)tcC>tcT	p.S56S		NM_015717	NP_056532	Q9UJ71	CLC4K_HUMAN	Homo sapiens CD207 molecule, langerin (CD207), mRNA.	56					defense response to virus	endocytic vesicle|integral to membrane	mannose binding	p.A55V(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|stomach(1)	20						GCAGCAGGACGGAGGCGACCA	0.602000														12			14		0	0	0.007413	0	0
TSGA10IP	254187	broad.mit.edu	37	11	65714972	65714972	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:65714972G>A	uc001ogk.1	+	3	705	c.673G>A	c.(673-675)Gag>Aag	p.E225K	TSGA10IP_uc009yqw.1_Non-coding_Transcript|TSGA10IP_uc009yqx.1_Intron	NM_152762	NP_689975	Q3SY00	T10IP_HUMAN	Homo sapiens testis specific, 10 interacting protein (TSGA10IP), mRNA.	226										endometrium(2)|kidney(3)|lung(9)	14						TGAGGAGGCCGAGAGGGGTCT	0.657000														23			17		0	0	0.010504	0	0
C12orf51	283450	broad.mit.edu	37	12	112677814	112677814	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:112677814C>T	uc021reb.1	-	32	4970	c.4574G>A	c.(4573-4575)tGt>tAt	p.C1525Y		NM_001109662	NP_001103132			Homo sapiens chromosome 12 open reading frame 51 (C12orf51), mRNA.											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(6)|large_intestine(16)|lung(49)|ovary(4)|prostate(1)|urinary_tract(6)	100						CATCCCACCACATGTGAGTTC	0.502000														32			33		0	0	0.004289	0	0
FRAS1	80144	broad.mit.edu	37	4	79369265	79369266	+	Nonsense_Mutation	DNP	CC	TT	TT			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr4:79369265_79369266CC>TT	uc003hlb.2	+	43	6509_6510	c.6069_6070CC>TT	c.(6067-6072)gtccag>gtTTag	p.Q2024*		NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	2023					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						GAGTTTTAGTCCAGGGCTCAAC	0.505000														11			11		0	0	0.004672	0	0
SLC6A12	6539	broad.mit.edu	37	12	301744	301744	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:301744C>T	uc001qhz.3	-	15	2265	c.1601G>A	c.(1600-1602)tGg>tAg	p.W534*	SLC6A12_uc001qhy.3_Nonsense_Mutation_p.W90*|SLC6A12_uc001qia.3_Nonsense_Mutation_p.W534*|SLC6A12_uc001qib.3_Nonsense_Mutation_p.W534*|SLC6A12_uc009zdh.2_Nonsense_Mutation_p.W534*	NM_003044	NP_003035	P48065	S6A12_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, betaine/GABA), member 12 (SLC6A12), transcript variant 1, mRNA.	534					cellular nitrogen compound metabolic process|neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00227)			GGAGTATCCCCAGGGCGGGTA	0.562000														35			39		0	0	0.006999	0	0
TMC2	117532	broad.mit.edu	37	20	2559842	2559842	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr20:2559842C>T	uc002wgf.1	+	5	711	c.696C>T	c.(694-696)atC>atT	p.I232I	TMC2_uc002wgg.1_Silent_p.I216I|TMC2_uc010zpw.1_Silent_p.I64I|TMC2_uc010zpx.1_Silent_p.I63I	NM_080751	NP_542789	Q8TDI7	TMC2_HUMAN	Homo sapiens transmembrane channel-like 2 (TMC2), mRNA.	232	Arg/Asp/Glu/Lys-rich (highly charged).					integral to membrane				NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						CTCAATGTATCCCCTGGGAAA	0.368000														14			16		0	0	0.004007	0	0
ITGAX	3687	broad.mit.edu	37	16	31391891	31391891	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr16:31391891C>T	uc002ebt.3	+	27	3289	c.3222C>T	c.(3220-3222)ttC>ttT	p.F1074F	ITGAX_uc002ebu.1_Silent_p.F1074F	NM_000887	NP_000878	P20702	ITAX_HUMAN	Homo sapiens integrin, alpha X (complement component 3 receptor 4 subunit) (ITGAX), mRNA.	1074					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						AAATTACGTTCGACACATCCG	0.562000														30			32		0	0	0.013114	0	0
LOC645166	645166	broad.mit.edu	37	1	148932920	148932920	+	Splice_Site	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:148932920G>A	uc010pbc.1	+	2		c.235_splice	c.e2+1		LOC645166_uc010pbd.1_Splice_Site|LOC645166_uc009wkw.1_Splice_Site					Homo sapiens lymphocyte-specific protein 1 pseudogene (LOC645166), transcript variant 2, non-coding RNA.																		CGTCCTGCAAGGTAAGGTCCC	0.597000														151			11		0	0	0.003163	0	0
TP63	8626	broad.mit.edu	37	3	189526072	189526072	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:189526072G>A	uc003fry.2	+	3	425	c.336G>A	c.(334-336)acG>acA	p.T112T	TP63_uc003frx.2_Silent_p.T112T|TP63_uc003frz.2_Silent_p.T112T|TP63_uc010hzc.1_Silent_p.T112T|TP63_uc003fsa.2_Silent_p.T18T|TP63_uc003fsb.2_Silent_p.T18T|TP63_uc003fsc.2_Silent_p.T18T|TP63_uc003fsd.2_Silent_p.T18T|TP63_uc021xir.1_Silent_p.T18T|TP63_uc010hzd.1_Intron|TP63_uc003fse.1_5'UTR	NM_003722	NP_003713	Q9H3D4	P63_HUMAN	Homo sapiens tumor protein p63 (TP63), transcript variant 1, mRNA.	112					DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|Notch signaling pathway|anti-apoptosis|cellular response to UV|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to X-ray|response to gamma radiation	Golgi apparatus|chromatin|cytosol|dendrite|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.T112M(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		CACAGTACACGAACCTGGGGC	0.547000										HNSCC(45;0.13)				39			28		0	0	0.013726	0	0
KALRN	8997	broad.mit.edu	37	3	124215215	124215215	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:124215215C>T	uc003ehg.3	+	32	5011	c.4884C>T	c.(4882-4884)atC>atT	p.I1628I	KALRN_uc010hrv.1_Silent_p.I1619I|KALRN_uc003ehf.1_Silent_p.I1628I|KALRN_uc011bjy.1_Silent_p.I1619I	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	Homo sapiens kalirin, RhoGEF kinase (KALRN), transcript variant 1, mRNA.	1628					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						CAGACACCATCTCCATTGCTT	0.542000														41			38		0	0	0.010771	0	0
SCN11A	11280	broad.mit.edu	37	3	38921480	38921480	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:38921480G>A	uc021wvy.1	-	18	3553	c.3354C>T	c.(3352-3354)ttC>ttT	p.F1118F	SCN11A_uc010hhn.1_Silent_p.F196F	NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	1118					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	AGGCACTGGTGAAATACTTTC	0.393000														14			9		0	0	0.010729	0	0
C4orf34	201895	broad.mit.edu	37	4	39606742	39606742	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr4:39606742G>A	uc003guo.3	-	1	182	c.24C>T	c.(22-24)ccC>ccT	p.P8P		NM_174921	NP_777581	Q96QK8	CD034_HUMAN	Homo sapiens chromosome 4 open reading frame 34 (C4orf34), mRNA.	8						integral to membrane	protein binding										CACATTCACAGGGATCAAATC	0.388000														33			26		0	0	0.010818	0	0
KRTAP13-2	337959	broad.mit.edu	37	21	31744112	31744112	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr21:31744112G>A	uc002ynz.4	-	0	446	c.420C>T	c.(418-420)ctC>ctT	p.L140L		NM_181621	NP_853652	Q52LG2	KR132_HUMAN	Homo sapiens keratin associated protein 13-2 (KRTAP13-2), nuclear gene encoding mitochondrial protein, mRNA.	140						intermediate filament				endometrium(1)|kidney(1)|lung(14)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	21						ATCCATAGCCGAGGGAAGGGA	0.567000														22			12		0	0	0.013537	0	0
CEACAM20	125931	broad.mit.edu	37	19	45028069	45028069	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:45028069C>T	uc010ejn.1	-	2	438	c.422G>A	c.(421-423)cGa>cAa	p.R141Q	CEACAM20_uc010ejo.1_Missense_Mutation_p.R141Q|CEACAM20_uc010ejp.1_Missense_Mutation_p.R141Q|CEACAM20_uc010ejq.1_Missense_Mutation_p.R141Q	NM_001102597	NP_001096067	Q6UY09	CEA20_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 20 (CEACAM20), transcript variant 5L, mRNA.	141	Ig-like C2-type 1.					integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15		Prostate(69;0.0352)				AAGGGCATCTCGAGCTTCACA	0.532000														192			154		0	0	0.014410	0	0
BRWD3	254065	broad.mit.edu	37	X	79947370	79947370	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:79947370C>T	uc004edt.3	-	29	3696	c.3433G>A	c.(3433-3435)Gaa>Aaa	p.E1145K	BRWD3_uc010nmi.2_Non-coding_Transcript|BRWD3_uc004edp.3_Missense_Mutation_p.E974K|BRWD3_uc004edq.3_Missense_Mutation_p.E741K|BRWD3_uc010nmj.2_Missense_Mutation_p.E741K|BRWD3_uc004edr.3_Missense_Mutation_p.E815K|BRWD3_uc004eds.3_Missense_Mutation_p.E741K|BRWD3_uc004edo.3_Missense_Mutation_p.E741K|BRWD3_uc004edu.3_Missense_Mutation_p.E815K|BRWD3_uc004edv.3_Missense_Mutation_p.E741K|BRWD3_uc004edw.3_Missense_Mutation_p.E741K|BRWD3_uc004edx.3_Missense_Mutation_p.E741K|BRWD3_uc004edy.3_Missense_Mutation_p.E741K|BRWD3_uc004edz.3_Missense_Mutation_p.E815K|BRWD3_uc004eea.3_Missense_Mutation_p.E815K|BRWD3_uc004eeb.3_Missense_Mutation_p.E741K	NM_153252	NP_694984	Q6RI45	BRWD3_HUMAN	Homo sapiens bromodomain and WD repeat domain containing 3 (BRWD3), mRNA.	1145										breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						TCACATTCTTCGTCTCTGGAA	0.468000														35			27		0	0	0.009535	0	0
PSMA4	5685	broad.mit.edu	37	15	78837985	78837986	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr15:78837985_78837986CC>TT	uc002bdu.4	+	6	544_545	c.386_387CC>TT	c.(385-387)ccc>cTT	p.P129L	PSMA4_uc010blf.3_Missense_Mutation_p.P129L|PSMA4_uc002bdv.4_Missense_Mutation_p.P58L|PSMA4_uc002bdw.4_Missense_Mutation_p.P105L|PSMA4_uc002bdx.4_Missense_Mutation_p.P58L	NM_002789	NP_001096138	P25789	PSA4_HUMAN	Homo sapiens proteasome (prosome, macropain) subunit, alpha type, 4 (PSMA4), transcript variant 1, mRNA.	129					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|interspecies interaction between organisms|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	identical protein binding|threonine-type endopeptidase activity			kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9						GGAAAACGTCCCTTTGGTGTTT	0.406000														107			57		0	0	0.004672	0	0
SLC25A47	283600	broad.mit.edu	37	14	100795310	100795311	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr14:100795310_100795311CC>TT	uc001yhc.3	+	4	648_649	c.575_576CC>TT	c.(574-576)tcc>tTT	p.S192F	SLC25A47_uc001yhd.3_Missense_Mutation_p.S46F	NM_207117	NP_997000	Q6Q0C1	S2547_HUMAN	Homo sapiens solute carrier family 25, member 47 (SLC25A47), nuclear gene encoding mitochondrial protein, mRNA.	192					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	13						GACGGCCACTCCTTTGCCACCT	0.693000														32			34		0	0	0.004672	0	0
CCDC37	348807	broad.mit.edu	37	3	126153205	126153205	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:126153205G>A	uc010hsg.1	+	13	1671	c.1612G>A	c.(1612-1614)Gag>Aag	p.E538K	CCDC37_uc003eiu.1_Missense_Mutation_p.E537K	NM_182628	NP_872434	Q494V2	CCD37_HUMAN	Homo sapiens coiled-coil domain containing 37 (CCDC37), mRNA.	537										NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.166)		GAGGGCAAAGGAGAAGGAGCG	0.622000														20			13		0	0	0.001855	0	0
UNC79	57578	broad.mit.edu	37	14	94053106	94053106	+	Splice_Site	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr14:94053106G>A	uc001ybv.1	+	19	2436	c.2353_splice	c.e19-1	p.E785_splice	UNC79_uc001ybs.1_Splice_Site_p.E785_splice	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	Homo sapiens unc-79 homolog (C. elegans) (UNC79), mRNA.	962						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						TTTTGTATAGGAAATGGCTAA	0.343000														42			27		0	0	0.008361	0	0
DNA2	1763	broad.mit.edu	37	10	70182479	70182479	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr10:70182479G>A	uc021pru.1	-	14	2635	c.2635C>T	c.(2635-2637)Ccc>Tcc	p.P879S	DNA2_uc021prt.1_Missense_Mutation_p.P879S|DNA2_uc021prv.1_Missense_Mutation_p.P50S|DNA2_uc001jog.2_Intron|DNA2_uc001joh.2_Non-coding_Transcript	NM_001080449	NP_001073918	P51530	DNA2L_HUMAN	Homo sapiens DNA replication helicase 2 homolog (yeast) (DNA2), mRNA.	793					DNA replication, removal of RNA primer|S phase of mitotic cell cycle|base-excision repair|mitochondrial DNA repair|mitochondrial DNA replication|positive regulation of DNA replication|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	mitochondrial nucleoid|nucleoplasm	5'-flap endonuclease activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|site-specific endodeoxyribonuclease activity, specific for altered base			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)	20						AGCACCAGGGGAGGAAGCTGC	0.413000														21			13		0	0	0.001855	0	0
C20orf26	26074	broad.mit.edu	37	20	20226842	20226842	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr20:20226842G>A	uc002wru.3	+	18	2256	c.2142G>A	c.(2140-2142)agG>agA	p.R714R	C20orf26_uc010zse.2_Silent_p.R694R|C20orf26_uc002wrw.3_Non-coding_Transcript|C20orf26_uc002wrv.3_Silent_p.R70R	NM_015585	NP_056400	Q8NHU2	CT026_HUMAN	Homo sapiens chromosome 20 open reading frame 26 (C20orf26), transcript variant 1, mRNA.	714										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		CTGAACAAAGGAAATTTTTAG	0.343000														42			35		0	0	0.006230	0	0
FKBP6	8468	broad.mit.edu	37	7	72440394	72440394	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:72440394C>T	uc003twz.2	+	0	203	c.50C>T	c.(49-51)cCc>cTc	p.P17L	TRIM74_uc010lao.2_5'Flank|TRIM74_uc003tws.1_5'Flank|TRIM74_uc003twv.3_Non-coding_Transcript|TRIM74_uc011kem.2_Non-coding_Transcript|FKBP6_uc010lap.3_Non-coding_Transcript|FKBP6_uc003twx.4_Missense_Mutation_p.P17L	NM_001135211	NP_001128683	O75344	FKBP6_HUMAN	Homo sapiens FK506 binding protein 6, 36kDa (FKBP6), transcript variant 2, mRNA.	17					protein folding	membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	16		Lung NSC(55;0.0908)|all_lung(88;0.198)				GACGACGCCCCCGGCCAGGTG	0.687000														9			3		0	0	0.001168	0	0
AFF4	27125	broad.mit.edu	37	5	132232341	132232341	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:132232341G>A	uc003kyd.3	-	10	2389	c.1981C>T	c.(1981-1983)Cct>Tct	p.P661S	AFF4_uc011cxk.2_Missense_Mutation_p.P339S|AFF4_uc003kye.1_Missense_Mutation_p.P661S	NM_014423	NP_055238	Q9UHB7	AFF4_HUMAN	Homo sapiens AF4/FMR2 family, member 4 (AFF4), mRNA.	661					transcription from RNA polymerase II promoter	mitochondrion|nucleolus	protein binding|sequence-specific DNA binding transcription factor activity		SEPT8/AFF4(2)	breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2)	43		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TGTGAGGAAGGAGGAAGGCTC	0.418000														37			40		0	0	0.008740	0	0
CELSR3	1951	broad.mit.edu	37	3	48691118	48691118	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:48691118C>T	uc003cuf.1	-	10	5592	c.5592G>A	c.(5590-5592)cgG>cgA	p.R1864R	CELSR3_uc010hkg.3_5'Flank|CELSR3_uc003cul.3_Silent_p.R1794R	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 3 (flamingo homolog, Drosophila) (CELSR3), mRNA.	1794	Laminin G-like 2.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		TTGCCCGTGTCCGAAATGCCA	0.607000														26			31		0	0	0.009535	0	0
SLC38A11	151258	broad.mit.edu	37	2	165802238	165802238	+	Splice_Site	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:165802238C>T	uc002ucw.2	-	3	393	c.62_splice	c.e3-1	p.D21_splice	SLC38A11_uc002ucu.2_Splice_Site_p.D21_splice|SLC38A11_uc002ucv.2_Splice_Site_p.D21_splice	NM_001199148	NP_001186077	Q08AI6	S38AB_HUMAN	Homo sapiens solute carrier family 38, member 11 (SLC38A11), transcript variant 1, mRNA.	21					amino acid transport|sodium ion transport	integral to membrane				endometrium(2)|large_intestine(4)|lung(8)|ovary(1)	15						AGGGAAAAGTCTGTGGCAAGA	0.353000														46			50		0	0	0.014410	0	0
RGN	9104	broad.mit.edu	37	X	46949287	46949287	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:46949287C>T	uc004dgz.1	+	4	1428	c.459C>T	c.(457-459)tcC>tcT	p.S153S	RGN_uc004dha.1_Silent_p.S153S|RGN_uc010nho.1_Silent_p.S100S|RGN_uc010nhp.1_Intron	NM_152869	NP_690608	Q15493	RGN_HUMAN	Homo sapiens regucalcin (senescence marker protein-30) (RGN), transcript variant 2, mRNA.	153					cellular calcium ion homeostasis|positive regulation of ATPase activity|regulation of calcium-mediated signaling	cytoplasm|nucleus	calcium ion binding|enzyme regulator activity|gluconolactonase activity|zinc ion binding	p.I152M(1)		breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)|skin(1)|urinary_tract(1)	9						TGGACATTTCCAATGGTTTGG	0.498000														39			37		0	0	0.007835	0	0
JAKMIP2	9832	broad.mit.edu	37	5	147027972	147027972	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:147027972C>T	uc010jgo.1	-	3	1051	c.903G>A	c.(901-903)agG>agA	p.R301R	JAKMIP2_uc003loq.1_Silent_p.R301R|JAKMIP2_uc011dbx.1_Silent_p.R259R|JAKMIP2_uc003lor.1_Silent_p.R301R|LOC153469_uc003lop.1_Intron	NM_014790	NP_055605	Q96AA8	JKIP2_HUMAN	Homo sapiens janus kinase and microtubule interacting protein 2 (JAKMIP2), mRNA.	301						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)			GCAAGGTATTCCTGTCTTCTA	0.303000														58			45		0	0	0.014410	0	0
TBL1X	6907	broad.mit.edu	37	X	9659735	9659735	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:9659735G>A	uc004csr.3	+	7	1220	c.733G>A	c.(733-735)Gat>Aat	p.D245N	TBL1X_uc004csq.4_Missense_Mutation_p.D194N|TBL1X_uc010ndr.3_Missense_Mutation_p.D194N|TBL1X_uc010ndq.3_Missense_Mutation_p.D245N|TBL1X_uc004css.3_Missense_Mutation_p.D196N	NM_005647	NP_001132940	O60907	TBL1X_HUMAN	Homo sapiens transducin (beta)-like 1X-linked (TBL1X), transcript variant 1, mRNA.	245					canonical Wnt receptor signaling pathway|cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|sensory perception of sound|transcription, DNA-dependent	spindle microtubule|transcriptional repressor complex	beta-catenin binding|histone binding|protein C-terminus binding|protein domain specific binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(2)|cervix(1)|endometrium(5)|large_intestine(7)|lung(2)|ovary(1)|skin(2)	20		Hepatocellular(5;0.000888)				TCCTGTCAGTGATTTGCTAGC	0.542000														34			18		0	0	0.012319	0	0
ADAM7	8756	broad.mit.edu	37	8	24350600	24350600	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr8:24350600C>T	uc003xeb.3	+	15	1813	c.1700C>T	c.(1699-1701)tCc>tTc	p.S567F	ADAM7_uc003xec.3_Missense_Mutation_p.S339F	NM_003817	NP_003808	Q9H2U9	ADAM7_HUMAN	Homo sapiens ADAM metallopeptidase domain 7 (ADAM7), mRNA.	567	Cys-rich.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		GGGGAGCTTTCCTCTCTCCTT	0.393000														35			27		0	0	0.009535	0	0
ST6GAL2	84620	broad.mit.edu	37	2	107459824	107459824	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:107459824G>A	uc002tdq.3	-	1	729	c.610C>T	c.(610-612)Ctg>Ttg	p.L204L	ST6GAL2_uc002tdr.3_Silent_p.L204L|ST6GAL2_uc002tds.3_Silent_p.L204L	NM_001142351	NP_115917	Q96JF0	SIAT2_HUMAN	Homo sapiens ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 (ST6GAL2), transcript variant 2, mRNA.	204					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						AGCCGGTACAGGAAGGCCCTG	0.622000														13			20		0	0	0.010504	0	0
SLFN12L	100506736	broad.mit.edu	37	17	33802148	33802148	+	Missense_Mutation	SNP	G	C	C			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr17:33802148G>C	uc002hjn.3	-	4	2362	c.1648C>G	c.(1648-1650)Cct>Gct	p.P550A	SLFN12L_uc021tuy.1_Missense_Mutation_p.P521A	NM_001195790	NP_001182719	Q6IEE8	SN12L_HUMAN	Homo sapiens schlafen family member 12-like (SLFN12L), mRNA.	553			Y -> S (in dbSNP:rs3744372).			integral to membrane	ATP binding	p.Y549S(2)		breast(1)|endometrium(4)|kidney(5)|large_intestine(2)|lung(3)|ovary(1)	16						TTGCCTTCAGGGCTCAAGTAG	0.383000														34			25		0	0	0.009535	0	0
SPAST	6683	broad.mit.edu	37	2	32323885	32323885	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:32323885C>T	uc002roc.3	+	3	828	c.607C>T	c.(607-609)Cca>Tca	p.P203S	SPAST_uc002rod.3_Intron	NM_014946	NP_055761	Q9UBP0	SPAST_HUMAN	Homo sapiens spastin (SPAST), transcript variant 1, mRNA.	203	Required for interaction with RTN1.				ER to Golgi vesicle-mediated transport|cell cycle|cell death|cell differentiation|cytokinesis, completion of separation|microtubule bundle formation|microtubule severing|nervous system development|protein hexamerization|protein homooligomerization	endoplasmic reticulum|endosome|integral to membrane|microtubule|microtubule organizing center|nucleus|perinuclear region of cytoplasm|spindle	ATP binding|alpha-tubulin binding|beta-tubulin binding|microtubule binding|microtubule-severing ATPase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					ACCAGTTTTGCCATTTTCCAA	0.353000														36			28		0	0	0.006320	0	0
PDE4A	5141	broad.mit.edu	37	19	10578119	10578119	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:10578119C>T	uc002moj.2	+	14	2591	c.2483C>T	c.(2482-2484)tCt>tTt	p.S828F	PDE4A_uc021uow.1_Missense_Mutation_p.S806F|PDE4A_uc002mok.2_Missense_Mutation_p.S802F|PDE4A_uc002mol.2_Missense_Mutation_p.S767F|PDE4A_uc002mom.2_Missense_Mutation_p.S589F|PDE4A_uc002moo.2_3'UTR	NM_001111307	NP_001104777	P27815	PDE4A_HUMAN	Homo sapiens phosphodiesterase 4A, cAMP-specific (PDE4A), transcript variant 1, mRNA.	828					signal transduction	cytosol|membrane fraction|perinuclear region of cytoplasm|ruffle membrane|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		Cilostazol(DB01166)|Dipyridamole(DB00975)|Dyphylline(DB00651)|Enprofylline(DB00824)|Iloprost(DB01088)|Milrinone(DB00235)|Pentoxifylline(DB00806)|Phentolamine(DB00692)|Tadalafil(DB00820)|Theophylline(DB00277)	AGGACCCTGTCTGTTTCAGAG	0.662000														60			46		0	0	0.014410	0	0
PDXK	8566	broad.mit.edu	37	21	45173471	45173471	+	Silent	SNP	C	G	G			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr21:45173471C>G	uc002zdm.4	+	8	828	c.630C>G	c.(628-630)ccC>ccG	p.P210P	PDXK_uc002zdn.4_Silent_p.P182P	NM_003681	NP_003672	O00764	PDXK_HUMAN	Homo sapiens pyridoxal (pyridoxine, vitamin B6) kinase (PDXK), mRNA.	210					cell proliferation|pyridoxal 5'-phosphate salvage	cytosol	ATP binding|lithium ion binding|magnesium ion binding|potassium ion binding|protein homodimerization activity|pyridoxal kinase activity|pyridoxal phosphate binding|sodium ion binding|zinc ion binding			endometrium(1)|lung(2)|ovary(1)|urinary_tract(1)	5				Colorectal(79;0.109)|READ - Rectum adenocarcinoma(84;0.161)|STAD - Stomach adenocarcinoma(101;0.18)	Pyridoxal(DB00147)|Pyridoxine(DB00165)	TAGGGAATCCCGCTGGCTCCG	0.637000														13			7		0	0	0.003080	0	0
RTN3	10313	broad.mit.edu	37	11	63486256	63486256	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:63486256C>T	uc001nxq.3	+	2	469	c.282C>T	c.(280-282)aaC>aaT	p.N94N	RTN3_uc001nxp.3_Intron|RTN3_uc009yov.3_Intron|RTN3_uc010rmt.2_Intron|RTN3_uc010rmu.2_Intron|RTN3_uc001nxm.3_Intron|RTN3_uc001nxn.3_Silent_p.N75N|RTN3_uc001nxo.3_Intron	NM_201428	NP_958831	O95197	RTN3_HUMAN	Homo sapiens reticulon 3 (RTN3), transcript variant 2, mRNA.	94					apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport	Golgi membrane|endoplasmic reticulum membrane|extracellular space|integral to membrane				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						AAATACATAACACTGGCCTTA	0.383000														15			16		0	0	0.004007	0	0
NBPF10	100132406	broad.mit.edu	37	1	144828599	144828599	+	Missense_Mutation	SNP	G	A	A	rs28736716		TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:144828599G>A	uc009wig.1	+	21	2832	c.2638G>A	c.(2638-2640)Gga>Aga	p.G880R	NBPF10_uc010oxo.1_Missense_Mutation_p.G807R|NBPF10_uc010oxn.1_Missense_Mutation_p.G780R|NBPF10_uc021oth.1_Missense_Mutation_p.G542R|NBPF10_uc021otj.1_Missense_Mutation_p.G909R|NBPF10_uc021oto.1_Missense_Mutation_p.G697R|NBPF10_uc021otr.1_Missense_Mutation_p.G209R|NBPF10_uc021ots.1_Intron|NBPF10_uc001ekk.1_Missense_Mutation_p.G453R|NBPF10_uc010oyd.1_Missense_Mutation_p.G209R|NBPF10_uc010oye.2_Intron|NBPF10_uc001eli.3_Non-coding_Transcript|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron	NM_001037675	NP_001032764	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 9 (NBPF9), mRNA.	882										NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		CTCACTGGATGGATGTTATTC	0.463000														32			23		0	0	0.007291	0	0
KLHL18	23276	broad.mit.edu	37	3	47371567	47371567	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:47371567C>T	uc003crd.3	+	3	654	c.528C>T	c.(526-528)ttC>ttT	p.F176F	KLHL18_uc003crc.2_Silent_p.F176F|KLHL18_uc011bav.2_Silent_p.F64F|KLHL18_uc010hjq.2_Silent_p.F27F	NM_025010	NP_079286	O94889	KLH18_HUMAN	Homo sapiens kelch-like 18 (Drosophila) (KLHL18), mRNA.	176	BACK.							p.F176F(2)		endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	21		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00645)|Kidney(197;0.00741)		CAGAAGAGTTCCTGGCCCTGC	0.542000														21			19		0	0	0.012319	0	0
PMFBP1	83449	broad.mit.edu	37	16	72170606	72170606	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr16:72170606C>T	uc002fcc.4	-	7	1203	c.1031G>A	c.(1030-1032)aGa>aAa	p.R344K	PMFBP1_uc002fcd.3_Missense_Mutation_p.R344K|PMFBP1_uc002fce.3_Non-coding_Transcript|PMFBP1_uc002fcf.3_Missense_Mutation_p.R199K	NM_031293	NP_112583	Q8TBY8	PMFBP_HUMAN	Homo sapiens polyamine modulated factor 1 binding protein 1 (PMFBP1), transcript variant 1, mRNA.	344										NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				CATGATGTTTCTCTTCTGTTC	0.567000														8			16		0	0	0.004990	0	0
KRT74	121391	broad.mit.edu	37	12	52962029	52962029	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:52962029C>T	uc001sap.1	-	6	1327	c.1279G>A	c.(1279-1281)Gag>Aag	p.E427K		NM_175053	NP_778223	Q7RTS7	K2C74_HUMAN	Homo sapiens keratin 74 (KRT74), mRNA.	427	Coil 2.|Rod.					keratin filament	structural molecule activity	p.Q426*(1)		kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	28				BRCA - Breast invasive adenocarcinoma(357;0.191)		CTCATGAGCTCCTGGTACTCG	0.637000														37			27		0	0	0.009535	0	0
MYH8	4626	broad.mit.edu	37	17	10301804	10301804	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr17:10301804C>T	uc002gmm.2	-	29	4230	c.4135G>A	c.(4135-4137)Gag>Aag	p.E1379K	AK097500_uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA.	1379					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	ATP binding|actin 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						GCATCCGTCTCGTATTTGGTT	0.542000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling					154			84		0	0	0.014410	0	0
MECOM	2122	broad.mit.edu	37	3	168833244	168833244	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:168833244C>T	uc011bpj.1	-	7	2819	c.2416G>A	c.(2416-2418)Gaa>Aaa	p.E806K	MECOM_uc010hwk.1_Missense_Mutation_p.E641K|MECOM_uc003ffj.3_Missense_Mutation_p.E683K|MECOM_uc003ffi.3_Missense_Mutation_p.E618K|MECOM_uc011bpi.1_Missense_Mutation_p.E619K|MECOM_uc003ffn.3_Missense_Mutation_p.E618K|MECOM_uc003ffk.2_Missense_Mutation_p.E618K|MECOM_uc003ffl.2_Missense_Mutation_p.E778K|MECOM_uc011bpk.1_Missense_Mutation_p.E618K|MECOM_uc010hwn.2_Missense_Mutation_p.E806K	NM_004991	NP_004982	Q13465	MDS1_HUMAN	Homo sapiens MDS1 and EVI1 complex locus (MECOM), transcript variant 4, mRNA.	27							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						GGTCTTGATTCGACGTTGCTT	0.473000														19			20		0	0	0.010504	0	0
KRT5	3852	broad.mit.edu	37	12	52908824	52908824	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:52908824G>A	uc001san.3	-	8	1838	c.1675C>T	c.(1675-1677)Cga>Tga	p.R559*		NM_000424	NP_000415	P13647	K2C5_HUMAN	Homo sapiens keratin 5 (KRT5), mRNA.	559	Ser-rich.|Tail.				epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		CCCAGCCCTCGGCCACTGCTT	0.627000														13			12		0	0	0.004990	0	0
OTX2	5015	broad.mit.edu	37	14	57268564	57268564	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr14:57268564G>A	uc001xcq.3	-	4	1057	c.783C>T	c.(781-783)acC>acT	p.T261T	OTX2_uc001xcp.3_Silent_p.T253T|OTX2_uc021rtm.1_Silent_p.T83T|OTX2_uc010aou.3_Silent_p.T253T	NM_021728	NP_068374	P32243	OTX2_HUMAN	Homo sapiens orthodenticle homeobox 2 (OTX2), transcript variant 1, mRNA.	253					axon guidance|forebrain development|midbrain development|positive regulation of embryonic development|positive regulation of gastrulation|primitive streak formation|protein complex assembly|regulation of fibroblast growth factor receptor signaling pathway|regulation of smoothened signaling pathway	growth cone|nucleus|protein complex	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|eukaryotic initiation factor 4E binding|sequence-specific DNA binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	19	Medulloblastoma(1;0.00184)|all_neural(1;0.00414)					AGCAATCAGTGGTTGAGTTAA	0.468000														31			28		0	0	0.008361	0	0
ACP6	51205	broad.mit.edu	37	1	147131765	147131765	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:147131765C>T	uc001epr.2	-	1	809	c.345G>A	c.(343-345)ctG>ctA	p.L115L	ACP6_uc009wjj.1_Intron	NM_016361	NP_057445	Q9NPH0	PPA6_HUMAN	Homo sapiens acid phosphatase 6, lysophosphatidic (ACP6), mRNA.	115					lipid metabolic process	extracellular region|mitochondrion	acid phosphatase activity|protein binding			breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(4)|prostate(1)	16	all_hematologic(923;0.0276)					TGCTCACCTTCAGGGTGGTCT	0.502000														2			125		0	0	0.014410	0	0
MAGEA4	4103	broad.mit.edu	37	X	151092293	151092293	+	Missense_Mutation	SNP	G	A	A	rs144298375		TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:151092293G>A	uc022cgv.1	+	0	157	c.157G>A	c.(157-159)Gaa>Aaa	p.E53K	MAGEA4_uc004fez.3_Missense_Mutation_p.E53K|MAGEA4_uc004ffa.3_Missense_Mutation_p.E53K|MAGEA4_uc004ffb.3_Missense_Mutation_p.E53K|MAGEA4_uc022cgu.1_Missense_Mutation_p.E81K|MAGEA4_uc004ffc.3_Missense_Mutation_p.E53K|MAGEA4_uc004ffd.3_Missense_Mutation_p.E53K	NM_002362	NP_002353	P43358	MAGA4_HUMAN	Homo sapiens melanoma antigen family A, 4 (MAGEA4), transcript variant 2, mRNA.	53				E -> K (in Ref. 3; BAA06841).			protein binding	p.E52D(1)		breast(2)|central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)	27	Acute lymphoblastic leukemia(192;6.56e-05)					CACCCTGGAGGAAGTGCCTGC	0.617000														54			92		0	0	0.014410	0	0
IYD	389434	broad.mit.edu	37	6	150690257	150690257	+	Silent	SNP	G	A	A	rs146748197	byFrequency	TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr6:150690257G>A	uc003qnx.2	+	0	230	c.90G>A	c.(88-90)aaG>aaA	p.K30K	IYD_uc003qnv.2_Silent_p.K30K|IYD_uc003qnu.2_Silent_p.K30K|IYD_uc003qnw.2_Non-coding_Transcript|IYD_uc010kik.2_5'UTR	NM_001164694	NP_001158166	Q6PHW0	IYD1_HUMAN	Homo sapiens iodotyrosine deiodinase (IYD), transcript variant 1, mRNA.	30					cellular nitrogen compound metabolic process|hormone biosynthetic process	integral to membrane|plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	15		Ovarian(120;0.028)	BRCA - Breast invasive adenocarcinoma(37;0.215)	OV - Ovarian serous cystadenocarcinoma(155;4.16e-12)		TGGAGAAAAAGAAGGGGGAGC	0.493000														4			70		0	0	0.014410	0	0
TNS3	64759	broad.mit.edu	37	7	47454705	47454705	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:47454705G>A	uc003tnw.3	-	10	931	c.573C>T	c.(571-573)ttC>ttT	p.F191F	TNS3_uc010kyo.1_Silent_p.F191F	NM_022748	NP_073585	Q68CZ2	TENS3_HUMAN	Homo sapiens tensin 3 (TNS3), mRNA.	191	C2 tensin-type.					focal adhesion	protein binding	p.F191fs*10(4)		NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						CACCTGTGTCGAAGTTGGGGG	0.572000														17			4		0	0	0.009096	0	0
ZNF429	353088	broad.mit.edu	37	19	21719375	21719375	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:21719375C>T	uc002nqd.1	+	3	657	c.520C>T	c.(520-522)Cag>Tag	p.Q174*	ZNF429_uc010ecu.2_Intron	NM_001001415	NP_001001415	Q86V71	ZN429_HUMAN	Homo sapiens zinc finger protein 429 (ZNF429), mRNA.	174					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(13)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	34						GAAACCTTTCCAGTGTAAAAA	0.313000														33			20		0	0	0.007413	0	0
KRTAP27-1	643812	broad.mit.edu	37	21	31709432	31709432	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr21:31709432G>A	uc002ynx.1	-	0	581	c.555C>T	c.(553-555)ctC>ctT	p.L185L		NM_001077711	NP_001071179	Q3LI81	KR271_HUMAN	Homo sapiens keratin associated protein 27-1 (KRTAP27-1), mRNA.	185						intermediate filament		p.L185L(2)		endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|skin(1)	18						AAGATTCCAGGAGTTGTGGCT	0.468000														20			24		0	0	0.002780	0	0
MED12L	116931	broad.mit.edu	37	3	150876497	150876497	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:150876497G>A	uc003eyp.3	+	5	877	c.748G>A	c.(748-750)Gaa>Aaa	p.E250K	MED12L_uc011bnz.2_Missense_Mutation_p.E250K|MED12L_uc003eym.1_Missense_Mutation_p.E250K|MED12L_uc003eyn.3_Missense_Mutation_p.E250K|MED12L_uc003eyo.3_Missense_Mutation_p.E250K	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	Homo sapiens mediator complex subunit 12-like (MED12L), mRNA.	250					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)			AGAAAAACACGAATATTTGAC	0.308000														22			12		0	0	0.013537	0	0
MED16	10025	broad.mit.edu	37	19	885838	885838	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:885838G>A	uc002lqd.1	-	4	962	c.811C>T	c.(811-813)Ctc>Ttc	p.L271F	MED16_uc010drw.2_Missense_Mutation_p.L96F|MED16_uc002lqe.3_Missense_Mutation_p.L260F|MED16_uc002lqf.3_Missense_Mutation_p.L260F|MED16_uc010xfv.1_Intron|MED16_uc010xfw.1_Missense_Mutation_p.L260F|MED16_uc010xfx.1_Intron|MED16_uc010xfy.1_Intron	NM_005481	NP_005472	Q9Y2X0	MED16_HUMAN	Homo sapiens mediator complex subunit 16 (MED16), mRNA.	271					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	receptor activity|thyroid hormone receptor binding|thyroid hormone receptor coactivator activity|vitamin D receptor binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TTGCGGTTGAGGTCGGTGGTG	0.632000														30			16		0	0	0.006122	0	0
CLCA4	22802	broad.mit.edu	37	1	87043677	87043678	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:87043677_87043678GG>AA	uc009wcs.3	+	11	2088_2089	c.2044_2045GG>AA	c.(2044-2046)gga>AAa	p.G682K	CLCA4_uc009wct.3_Missense_Mutation_p.G445K|CLCA4_uc009wcu.3_Missense_Mutation_p.G502K	NM_012128	NP_036260	Q14CN2	CLCA4_HUMAN	Homo sapiens chloride channel accessory 4 (CLCA4), transcript variant 1, mRNA.	682						apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		TCGGGCTCATGGAGGAGCAAAC	0.431000														3			25		0	0	0.004672	0	0
HYDIN	54768	broad.mit.edu	37	16	71163558	71163558	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr16:71163558G>A	uc002ezr.3	-	8	1363	c.1212C>T	c.(1210-1212)ttC>ttT	p.F404F	HYDIN_uc010cfz.2_Silent_p.F149F|HYDIN_uc021tkq.1_Silent_p.F404F|HYDIN_uc010vmc.2_Silent_p.F421F|HYDIN_uc010vmd.2_Silent_p.F431F|HYDIN_uc002ezw.4_Silent_p.F421F	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	404										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)				GCTCCACAGTGAAAACGTTAT	0.473000														16			7		0	0	0.001984	0	0
CDHR2	54825	broad.mit.edu	37	5	176016107	176016107	+	Missense_Mutation	SNP	G	C	C			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:176016107G>C	uc021yie.1	+	21	3206	c.2932G>C	c.(2932-2934)Ggg>Cgg	p.G978R	CDHR2_uc003mem.2_Missense_Mutation_p.G978R|CDHR2_uc003men.1_Missense_Mutation_p.G978R	NM_001171976	NP_060145	Q9BYE9	CDHR2_HUMAN	Homo sapiens cadherin-related family member 2 (CDHR2), transcript variant 1, mRNA.	978	Cadherin 9.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding	p.G978W(2)		breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						CTCTAAGGACGGGGCCACCAT	0.577000														118			54		0	0	0.014410	0	0
MYOM2	9172	broad.mit.edu	37	8	2040179	2040179	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr8:2040179C>T	uc003wpx.4	+	15	1972	c.1834C>T	c.(1834-1836)Cct>Tct	p.P612S	MYOM2_uc011kwi.2_Missense_Mutation_p.P37S	NM_003970	NP_003961	P54296	MYOM2_HUMAN	Homo sapiens myomesin (M-protein) 2, 165kDa (MYOM2), mRNA.	612	Fibronectin type-III 3.				muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		AAAAGTTGTCCCTTCTGCTCC	0.547000														119			101		0	0	0.014410	0	0
SLC7A14	57709	broad.mit.edu	37	3	170244485	170244485	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:170244485C>T	uc003fgz.2	-	1	557	c.241G>A	c.(241-243)Gaa>Aaa	p.E81K	CLDN11_uc011bpt.1_Intron|CLDN11_uc003fha.1_Intron	NM_020949	NP_066000	Q8TBB6	S7A14_HUMAN	Homo sapiens solute carrier family 7 (orphan transporter), member 14 (SLC7A14), mRNA.	81						integral to membrane	amino acid transmembrane transporter activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			CCTGCCATTTCCTTGGCCACC	0.532000														42			21		0	0	0.002780	0	0
RNF219	79596	broad.mit.edu	37	13	79189831	79189831	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr13:79189831G>A	uc001vkw.1	-	5	2124	c.2065C>T	c.(2065-2067)Cct>Tct	p.P689S	BX647243_uc001vku.1_Non-coding_Transcript|RNF219_uc010afb.1_Missense_Mutation_p.P499S	NM_024546	NP_078822	Q5W0B1	RN219_HUMAN	Homo sapiens ring finger protein 219 (RNF219), mRNA.	689	Ser-rich.						zinc ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|liver(1)|lung(11)|prostate(1)|skin(1)	32		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.0414)		GTAGACCAAGGAGACTGAAGG	0.398000														55			49		0	0	0.014410	0	0
DDN	23109	broad.mit.edu	37	12	49390542	49390542	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:49390542C>T	uc001rsv.1	-	1	2135	c.2117G>A	c.(2116-2118)gGa>gAa	p.G706E		NM_015086	NP_055901	O94850	DEND_HUMAN	Homo sapiens dendrin (DDN), mRNA.	706	Interaction with CD2AP and NPHS1 (By similarity).					dendritic spine membrane|endoplasmic reticulum membrane|nucleus|perikaryon				NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	8						CTTCCTATTTCCCTGTTGGGT	0.552000											OREG0021778	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		29			21		0	0	0.014323	0	0
ZNF600	162966	broad.mit.edu	37	19	53269487	53269487	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:53269487G>A	uc002qab.4	-	2	1808	c.1522C>T	c.(1522-1524)Cgt>Tgt	p.R508C	ZNF600_uc021uyz.1_Missense_Mutation_p.R508C	NM_198457	NP_940859	Q6ZNG1	ZN600_HUMAN	Homo sapiens zinc finger protein 600 (ZNF600), mRNA.	508				R -> H (in Ref. 1; BAD18414).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R508C(2)		breast(2)|endometrium(2)|kidney(4)|large_intestine(9)|liver(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404)		GACCTCAGACGGAAGGTCTTG	0.443000														91			79		0	0	0.014410	0	0
MLST8	64223	broad.mit.edu	37	16	2258787	2258788	+	Nonsense_Mutation	DNP	GG	AA	AA			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr16:2258787_2258788GG>AA	uc002cpc.3	+	8	1251_1252	c.890_891GG>AA	c.(889-891)tgg>tAA	p.W297*	MLST8_uc010uvx.2_Nonsense_Mutation_p.W231*|MLST8_uc002cpd.3_Nonsense_Mutation_p.W231*|MLST8_uc002cpb.3_Nonsense_Mutation_p.W296*|MLST8_uc002coz.3_Nonsense_Mutation_p.W297*|MLST8_uc002cpe.3_Nonsense_Mutation_p.W297*|MLST8_uc002cpf.3_Nonsense_Mutation_p.W297*|MLST8_uc002cph.3_Non-coding_Transcript	NM_001199173	NP_001186102	Q9BVC4	LST8_HUMAN	Homo sapiens MTOR associated protein, LST8 homolog (S. cerevisiae) (MLST8), transcript variant 2, mRNA.	297					T cell costimulation|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade	cytosol	protein binding			large_intestine(3)|lung(2)|skin(1)	6						GCCCGGCTCTGGTGTGTGGAGA	0.624000														86			82		0	0	0.004672	0	0
CNTNAP3	79937	broad.mit.edu	37	9	39171436	39171436	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr9:39171436G>A	uc004abi.3	-	7	1502	c.1263C>T	c.(1261-1263)ctC>ctT	p.L421L	CNTNAP3_uc004abj.3_Silent_p.L421L|CNTNAP3_uc011lqr.2_Non-coding_Transcript|CNTNAP3_uc004abk.1_Silent_p.L421L|CNTNAP3_uc011lqs.1_Silent_p.L421L	NM_033655	NP_387504	Q9BZ76	CNTP3_HUMAN	Homo sapiens contactin associated protein-like 3 (CNTNAP3), mRNA.	421	Laminin G-like 2.				cell adhesion|cell recognition|signal transduction	extracellular region|integral to membrane|plasma membrane	receptor binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		CCTTAAGAAAGAGGACGAAAC	0.478000														47			38		0	0	0.006999	0	0
TEX15	56154	broad.mit.edu	37	8	30705003	30705003	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr8:30705003C>T	uc003xil.3	-	0	1531	c.1531G>A	c.(1531-1533)Gaa>Aaa	p.E511K		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	Homo sapiens testis expressed 15 (TEX15), mRNA.	511										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		CTGAAATTTTCGTTTGTATGA	0.303000														46			38		0	0	0.004878	0	0
NCALD	83988	broad.mit.edu	37	8	102731743	102731743	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr8:102731743G>A	uc003yke.3	-	1	484	c.115C>T	c.(115-117)Ccc>Tcc	p.P39S	NCALD_uc003ykf.3_Missense_Mutation_p.P39S|NCALD_uc003ykg.3_Missense_Mutation_p.P39S|NCALD_uc003ykh.3_Missense_Mutation_p.P39S|NCALD_uc003yki.3_Missense_Mutation_p.P39S|NCALD_uc003ykj.3_Missense_Mutation_p.P39S|NCALD_uc003ykk.3_Missense_Mutation_p.P39S|NCALD_uc003ykl.3_Missense_Mutation_p.P39S	NM_032041	NP_114430	P61601	NCALD_HUMAN	Homo sapiens neurocalcin delta (NCALD), transcript variant 8, mRNA.	39	EF-hand 1.				synaptic transmission|vesicle-mediated transport	clathrin coat of trans-Golgi network vesicle|cytosol	actin binding|calcium ion binding|clathrin binding|tubulin binding			endometrium(1)|large_intestine(2)|lung(4)|prostate(1)	8	all_cancers(14;8.94e-08)|all_epithelial(15;7.03e-10)|Lung NSC(17;1.36e-05)|all_lung(17;2.7e-05)		all cancers(13;1.09e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000699)			TGTCCACTGGGGCAGTCTCTC	0.468000														65			51		0	0	0.014410	0	0
RXFP2	122042	broad.mit.edu	37	13	32366148	32366148	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr13:32366148G>A	uc001utt.3	+	14	1422	c.1351G>A	c.(1351-1353)Gct>Act	p.A451T	RXFP2_uc010aba.3_Missense_Mutation_p.A427T	NM_130806	NP_570718	Q8WXD0	RXFP2_HUMAN	Homo sapiens relaxin/insulin-like family peptide receptor 2 (RXFP2), transcript variant 1, mRNA.	451						integral to membrane|plasma membrane				cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		TACAACTCACGCTATGTCCAT	0.328000														28			25		0	0	0.004656	0	0
TXNRD3NB	645840	broad.mit.edu	37	3	126291117	126291117	+	Silent	SNP	A	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:126291117A>T	uc003ejc.3	-	2	827	c.270T>A	c.(268-270)ctT>ctA	p.L90L		NM_001039783	NP_001034872	Q6F5E7	TR3N_HUMAN	Homo sapiens thioredoxin reductase 3 neighbor (TXNRD3NB), mRNA.	90										endometrium(1)|large_intestine(2)|skin(2)	5						gctctccagaaagacattttg	0.542000														18			13		0	0	0.001855	0	0
ATAD5	79915	broad.mit.edu	37	17	29170935	29170935	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr17:29170935C>T	uc002hfs.1	+	4	2589	c.2246C>T	c.(2245-2247)tCt>tTt	p.S749F	ATAD5_uc002hft.1_Missense_Mutation_p.S646F	NM_024857	NP_079133	Q96QE3	ATAD5_HUMAN	Homo sapiens ATPase family, AAA domain containing 5 (ATAD5), mRNA.	749					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				TCTTAGGATTCTGTTATAATA	0.264000														25			35		0	0	0.013726	0	0
SEC24A	10802	broad.mit.edu	37	5	134010889	134010889	+	Missense_Mutation	SNP	A	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:134010889A>T	uc003kzs.3	+	5	1425	c.1133A>T	c.(1132-1134)aAa>aTa	p.K378I	SEC24A_uc021ydr.1_Missense_Mutation_p.K378I|SEC24A_uc011cxu.2_Missense_Mutation_p.K142I	NM_021982	NP_068817	O95486	SC24A_HUMAN	Homo sapiens SEC24 family, member A (S. cerevisiae) (SEC24A), transcript variant 1, mRNA.	378					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|Golgi membrane|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	zinc ion binding			NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	36			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GACATCCAGAAACTCAACTGT	0.423000														26			22		0	0	0.008361	0	0
ACAN	176	broad.mit.edu	37	15	89388938	89388938	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr15:89388938C>T	uc010upo.1	+	6	1628	c.1254C>T	c.(1252-1254)ttC>ttT	p.F418F	ACAN_uc002bmx.3_Silent_p.F418F|ACAN_uc010upp.1_Silent_p.F418F|ACAN_uc002bna.2_Non-coding_Transcript	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA.	418					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			AGGAGCCCTTCACGTTTGCCC	0.617000														11			8		0	0	0.004482	0	0
BMP1	649	broad.mit.edu	37	8	22049630	22049630	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr8:22049630C>T	uc003xbg.3	+	8	1412	c.1146C>T	c.(1144-1146)gtC>gtT	p.V382V	BMP1_uc003xbf.3_Silent_p.V131V|BMP1_uc003xbb.3_Silent_p.V382V|BMP1_uc003xbc.3_Silent_p.V131V|BMP1_uc003xbd.3_Non-coding_Transcript|BMP1_uc003xbe.3_Non-coding_Transcript|BMP1_uc011kzc.2_Silent_p.V131V|BMP1_uc003xbh.3_Non-coding_Transcript|BMP1_uc003xbi.3_Non-coding_Transcript	NM_006129	NP_006120	P13497	BMP1_HUMAN	Homo sapiens bone morphogenetic protein 1 (BMP1), transcript variant 3, mRNA.	382	CUB 1.				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		ATGTGGAGGTCCGAGATGGCT	0.612000														36			28		0	0	0.008361	0	0
UGT3A2	167127	broad.mit.edu	37	5	36049520	36049520	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:36049520C>T	uc003jjz.2	-	3	446	c.314G>A	c.(313-315)gGa>gAa	p.G105E	UGT3A2_uc011cos.2_Missense_Mutation_p.G71E|UGT3A2_uc011cot.2_Intron	NM_174914	NP_777574	Q3SY77	UD3A2_HUMAN	Homo sapiens UDP glycosyltransferase 3 family, polypeptide A2 (UGT3A2), transcript variant 1, mRNA.	105						integral to membrane	glucuronosyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TTCAAATTTTCCTCTGTAAGA	0.284000														24			19		0	0	0.012319	0	0
PIEZO2	63895	broad.mit.edu	37	18	10671737	10671737	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr18:10671737C>T	uc002kos.2	-	51	8220	c.8046G>A	c.(8044-8046)ggG>ggA	p.G2682G	PIEZO2_uc002koq.3_Silent_p.G474G	NM_022068	NP_071351	Q9H5I5	PIEZ2_HUMAN	Homo sapiens piezo-type mechanosensitive ion channel component 2 (PIEZO2), mRNA.	2682						integral to membrane	ion channel activity										GGACAAATTTCCCAATCACAA	0.333000														30			40		0	0	0.010771	0	0
KYNU	8942	broad.mit.edu	37	2	143685263	143685263	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:143685263G>A	uc010fnm.3	+	4	542	c.326G>A	c.(325-327)tGg>tAg	p.W109*	KYNU_uc002tvk.3_Nonsense_Mutation_p.W109*|KYNU_uc002tvl.3_Nonsense_Mutation_p.W109*	NM_001199241	NP_001186170	Q16719	KYNU_HUMAN	Homo sapiens kynureninase (KYNU), transcript variant 3, mRNA.	109					NAD biosynthetic process|anthranilate metabolic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6	cytosol|mitochondrion|soluble fraction	kynureninase activity|protein homodimerization activity			large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4)	36				BRCA - Breast invasive adenocarcinoma(221;0.072)	L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)	AAGCGTCCTTGGATTACAGGA	0.358000														52			34		0	0	0.006999	0	0
BTK	695	broad.mit.edu	37	X	100611058	100611058	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:100611058C>T	uc010nno.2	-	14	1883	c.1650G>A	c.(1648-1650)caG>caA	p.Q550Q	BTK_uc004ehf.2_Silent_p.Q16Q|BTK_uc010nnh.2_Intron|BTK_uc010nni.2_Intron|BTK_uc004ehe.2_Intron|BTK_uc010nnj.2_Non-coding_Transcript|BTK_uc010nnk.2_Intron|BTK_uc010nnl.2_Intron|BTK_uc010nnm.2_Silent_p.Q86Q|BTK_uc004ehg.2_Silent_p.Q516Q|BTK_uc010nnn.2_Intron|BTK_uc004ehh.1_Intron|BTK_uc004ehi.3_Silent_p.Q516Q	NM_000061	NP_000052	Q06187	BTK_HUMAN	Homo sapiens Bruton agammaglobulinemia tyrosine kinase (BTK), mRNA.	516	Protein kinase.				calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development	cytosol|membrane raft|nucleus|plasma membrane	ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding			breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						GGTGAAGGAACTGCTTTGACT	0.517000									Agammaglobulinemia, X-linked					82			61		0	0	0.014410	0	0
ATAD1	84896	broad.mit.edu	37	10	89550090	89550090	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr10:89550090G>A	uc001kez.1	-	3	738	c.359C>T	c.(358-360)tCc>tTc	p.S120F	ATAD1_uc010qmr.1_Missense_Mutation_p.S62F|ATAD1_uc009xth.1_Non-coding_Transcript|ATAD1_uc001key.1_Missense_Mutation_p.S120F	NM_032810	NP_116199	Q8NBU5	ATAD1_HUMAN	Homo sapiens ATPase family, AAA domain containing 1 (ATAD1), mRNA.	120						peroxisome	ATP binding|nucleoside-triphosphatase activity			kidney(1)|large_intestine(4)|lung(4)|ovary(1)	10		all_cancers(4;6.78e-12)|Prostate(4;3.56e-12)|all_epithelial(4;5.58e-09)|Melanoma(5;0.0273)|Breast(4;0.0424)|all_hematologic(4;0.0846)|Colorectal(252;0.207)|Glioma(4;0.217)|all_neural(4;0.224)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00131)|GBM - Glioblastoma multiforme(1;1.1e-32)|Lung(2;1.4e-05)|LUSC - Lung squamous cell carcinoma(2;2.69e-05)|Colorectal(12;7.09e-05)|COAD - Colon adenocarcinoma(12;0.000261)|STAD - Stomach adenocarcinoma(243;0.235)		CAGAAGCCTGGAATTCTCAAA	0.368000														33			24		0	0	0.004656	0	0
NUP210L	91181	broad.mit.edu	37	1	154090246	154090246	+	Silent	SNP	A	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:154090246A>T	uc001fdw.3	-	11	1647	c.1575T>A	c.(1573-1575)gtT>gtA	p.V525V	NUP210L_uc009woq.3_5'UTR|NUP210L_uc010peh.2_Silent_p.V525V	NM_207308	NP_997191	Q5VU65	P210L_HUMAN	Homo sapiens nucleoporin 210kDa-like (NUP210L), transcript variant 1, mRNA.	525						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			CTCGGGCCAAAACAGTACTAT	0.423000														4			126		0	0	0.014410	0	0
IL32	9235	broad.mit.edu	37	16	3117463	3117463	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr16:3117463C>T	uc002ctq.3	+	2	196	c.101C>T	c.(100-102)tCa>tTa	p.S34L	IL32_uc002ctn.3_Intron|IL32_uc002ctk.3_Intron|IL32_uc002cto.3_Missense_Mutation_p.S34L|IL32_uc010uwp.2_Intron|IL32_uc010btb.3_Intron|IL32_uc002ctl.3_Intron|IL32_uc002ctm.3_Intron|IL32_uc002ctp.3_Intron|IL32_uc010uwq.1_Missense_Mutation_p.S34L|IL32_uc002ctr.3_Intron|IL32_uc002ctt.3_Intron|IL32_uc010uwr.2_Intron|IL32_uc002ctu.3_Intron|IL32_uc021tbc.1_Intron	NM_004221	NP_004212	P24001	IL32_HUMAN	Homo sapiens interleukin 32 (IL32), transcript variant 2, mRNA.	34					cell adhesion|defense response|immune response	extracellular space	cytokine activity			breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	15						GCCTGGGTCTCAGCGTGTGAC	0.592000														45			36		0	0	0.004289	0	0
BRK1	55845	broad.mit.edu	37	3	10157502	10157502	+	Splice_Site	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:10157502C>T	uc003bvb.3	+	1	171	c.118_splice	c.e1+1	p.D40_splice		NM_018462	NP_060932	Q8WUW1	BRK1_HUMAN	Homo sapiens BRICK1, SCAR/WAVE actin-nucleating complex subunit (BRK1), mRNA.	40						cytoplasm|cytoskeleton				breast(1)|skin(1)	2						TCAACTCGTTCGGTCAGCGGG	0.612000														19			23		0	0	0.003330	0	0
TSIX	9383	broad.mit.edu	37	X	73046495	73046495	+	RNA	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:73046495C>T	uc004ebn.2	+	0		c.34456C>T			XIST_uc004ebm.1_Non-coding_Transcript					Homo sapiens TSIX transcript, XIST antisense RNA (non-protein coding) (TSIX), antisense RNA.																		CTTGGGATTTCCCCAGGTCTT	0.443000														76			72		0	0	0.014410	0	0
FRAS1	80144	broad.mit.edu	37	4	79204065	79204065	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr4:79204065C>T	uc003hlb.2	+	11	1639	c.1199C>T	c.(1198-1200)cCa>cTa	p.P400L	FRAS1_uc003hkw.3_Missense_Mutation_p.P400L|FRAS1_uc003hky.1_Missense_Mutation_p.P104L|FRAS1_uc003hkz.3_Missense_Mutation_p.P104L	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	400	VWFC 6.				cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						CCACCATGTCCAGTGGGCACA	0.552000														25			18		0	0	0.006122	0	0
CYP4V2	285440	broad.mit.edu	37	4	187130396	187130396	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr4:187130396C>T	uc003iyw.4	+	9	1679	c.1375C>T	c.(1375-1377)Ccc>Tcc	p.P459S	CYP4V2_uc010ism.3_Non-coding_Transcript	NM_207352	NP_997235	Q6ZWL3	CP4V2_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily V, polypeptide 2 (CYP4V2), mRNA.	459					response to stimulus|visual perception	endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(1)|stomach(2)	20		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.33e-10)|BRCA - Breast invasive adenocarcinoma(30;3.84e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000293)|LUSC - Lung squamous cell carcinoma(40;0.00242)|READ - Rectum adenocarcinoma(43;0.17)		TGCCTACGTGCCCTTCTCTGC	0.522000														40			37		0	0	0.007835	0	0
SYBU	55638	broad.mit.edu	37	8	110598301	110598301	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr8:110598301G>A	uc010mcp.3	-	4	880	c.518C>T	c.(517-519)tCt>tTt	p.S173F	SYBU_uc003yni.4_Missense_Mutation_p.S170F|SYBU_uc003ynk.4_Missense_Mutation_p.S54F|SYBU_uc003ynj.4_Missense_Mutation_p.S173F|SYBU_uc010mco.3_Missense_Mutation_p.S172F|SYBU_uc003ynl.4_Missense_Mutation_p.S172F|SYBU_uc010mcq.3_Missense_Mutation_p.S173F|SYBU_uc003yno.4_Missense_Mutation_p.S54F|SYBU_uc010mcr.3_Missense_Mutation_p.S173F|SYBU_uc003ynm.4_Missense_Mutation_p.S172F|SYBU_uc003ynn.4_Missense_Mutation_p.S172F|SYBU_uc010mcs.3_Missense_Mutation_p.S54F|SYBU_uc010mct.3_Missense_Mutation_p.S173F|SYBU_uc010mcu.3_Missense_Mutation_p.S172F|SYBU_uc003ynp.4_Missense_Mutation_p.S105F|SYBU_uc010mcv.3_Missense_Mutation_p.S173F|SYBU_uc011lhw.2_Missense_Mutation_p.S43F	NM_001099752	NP_001093225	Q9NX95	SYBU_HUMAN	Homo sapiens syntabulin (syntaxin-interacting) (SYBU), transcript variant 5, mRNA.	173	Ser-rich.|Sufficient for interaction with KIF5B.					Golgi membrane|cytoplasmic membrane-bounded vesicle|cytoskeleton|integral to membrane				NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	30						GCGTGAAGAAGAAGACCGCTT	0.507000														5			5		0	0	0.001984	0	0
TCF4	6925	broad.mit.edu	37	18	52937091	52937091	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr18:52937091G>A	uc002lga.3	-	11	1259	c.1199C>T	c.(1198-1200)cCt>cTt	p.P400L	TCF4_uc021ukg.1_Missense_Mutation_p.P138L|TCF4_uc021ukh.1_Missense_Mutation_p.P138L|TCF4_uc002lfw.4_Missense_Mutation_p.P138L|TCF4_uc010xdu.1_Missense_Mutation_p.P168L|TCF4_uc010xdv.1_Missense_Mutation_p.P168L|TCF4_uc021uki.1_Missense_Mutation_p.P227L|TCF4_uc002lfx.2_Missense_Mutation_p.P227L|TCF4_uc010xdw.1_Missense_Mutation_p.P168L|TCF4_uc002lfy.2_Missense_Mutation_p.P256L|TCF4_uc010xdx.1_Missense_Mutation_p.P274L|TCF4_uc021ukj.1_Missense_Mutation_p.P238L|TCF4_uc021ukk.1_Missense_Mutation_p.P238L|TCF4_uc021ukl.1_Missense_Mutation_p.P296L|TCF4_uc002lfz.2_Missense_Mutation_p.P298L|TCF4_uc010dph.1_Missense_Mutation_p.P298L|TCF4_uc010dpi.3_Missense_Mutation_p.P304L|TCF4_uc010xdy.1_Missense_Mutation_p.P274L|TCF4_uc002lgc.4_Missense_Mutation_p.P219L	NM_001243226	NP_001230155	P15884	ITF2_HUMAN	Homo sapiens transcription factor 4 (TCF4), transcript variant 3, mRNA.	298	Leucine-zipper.				positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter	transcription factor complex	E-box binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding|protein C-terminus binding|protein heterodimerization activity|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		GTTGGCAGGAGGCGTACAGGA	0.453000														27			25		0	0	0.003954	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140216051	140216051	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:140216051G>A	uc003lhq.2	+	0	2083	c.2083G>A	c.(2083-2085)Gat>Aat	p.D695N	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc011dac.2_Missense_Mutation_p.D695N	NM_018910	NP_061733	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 7 (PCDHA7), transcript variant 1, mRNA.	703					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGAGCTGGTGGATGTCAACGT	0.637000														48			41		0	0	0.009718	0	0
SMR3A	26952	broad.mit.edu	37	4	71232442	71232442	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr4:71232442G>A	uc003hfg.1	+	2	217	c.136G>A	c.(136-138)Gga>Aga	p.G46R	SMR3A_uc011cas.2_Intron	NM_012390	NP_036522	Q99954	SMR3A_HUMAN	Homo sapiens submaxillary gland androgen regulated protein 3A (SMR3A), mRNA.	46	Pro-rich.					extracellular region				endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)	15		all_hematologic(202;0.196)				TTTTCCTTTTGGAACAGGATT	0.547000														57			24		0	0	0.003330	0	0
APOB	338	broad.mit.edu	37	2	21236264	21236264	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:21236264G>A	uc002red.3	-	24	4112	c.3984C>T	c.(3982-3984)ttC>ttT	p.F1328F		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	1328					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)	ATGGCAGATGGAATCCCACAG	0.468000														245			188		0	0	0.014410	0	0
WIF1	11197	broad.mit.edu	37	12	65471619	65471619	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:65471619C>T	uc001ssk.3	-	2	679	c.304G>A	c.(304-306)Gaa>Aaa	p.E102K		NM_007191	NP_009122	Q9Y5W5	WIF1_HUMAN	Homo sapiens WNT inhibitory factor 1 (WIF1), mRNA.	102	WIF.				Wnt receptor signaling pathway|multicellular organismal development	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)		GACAGGAATTCATAGAAGTAT	0.512000			T	HMGA2	pleomorphic salivary gland adenoma									17			19		0	0	0.014323	0	0
PRKCD	5580	broad.mit.edu	37	3	53217545	53217545	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:53217545C>T	uc003dgl.3	+	8	1088	c.735C>T	c.(733-735)gaC>gaT	p.D245D	PRKCD_uc003dgm.3_Silent_p.D245D|PRKCD_uc010hmt.1_Silent_p.D17D	NM_006254	NP_997704	Q05655	KPCD_HUMAN	Homo sapiens protein kinase C, delta (PRKCD), transcript variant 1, mRNA.	245					activation of phospholipase C activity|cellular component disassembly involved in apoptosis|cellular senescence|interferon-gamma-mediated signaling pathway|intracellular signal transduction|mRNA metabolic process|negative regulation of MAP kinase activity|negative regulation of insulin receptor signaling pathway|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein binding|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of ceramide biosynthetic process|positive regulation of glucosylceramide catabolic process|positive regulation of protein dephosphorylation|positive regulation of sphingomyelin catabolic process|protein stabilization|regulation of receptor activity|termination of signal transduction	cytosol|endoplasmic reticulum|nucleoplasm	ATP binding|calcium-independent protein kinase C activity|enzyme activator activity|enzyme binding|insulin receptor substrate binding|metal ion binding|protein C-terminus binding			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Ovarian(412;0.0728)		OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173)		CCTTCTGTGACCACTGCGGCA	0.607000														35			25		0	0	0.007291	0	0
MAPK4	5596	broad.mit.edu	37	18	48190460	48190460	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr18:48190460G>A	uc002lev.3	+	1	1132	c.132G>A	c.(130-132)cgG>cgA	p.R44R	MAPK4_uc010xdm.2_Intron|MAPK4_uc010doz.3_Silent_p.R44R	NM_002747	NP_002738	P31152	MK04_HUMAN	Homo sapiens mitogen-activated protein kinase 4 (MAPK4), mRNA.	44	Protein kinase.				cell cycle		ATP binding|MAP kinase activity			lung(4)|skin(3)|upper_aerodigestive_tract(1)	8		Colorectal(6;0.0297)		Colorectal(21;0.156)		GGGCCTGCCGGAAGGTCGCTG	0.602000														40			31		0	0	0.003271	0	0
GHSR	2693	broad.mit.edu	37	3	172165940	172165940	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:172165940G>A	uc003fib.2	-	0	307	c.264C>T	c.(262-264)tcC>tcT	p.S88S	GHSR_uc011bpv.2_Silent_p.S88S	NM_198407	NP_940799	Q92847	GHSR_HUMAN	Homo sapiens growth hormone secretagogue receptor (GHSR), transcript variant 1a, mRNA.	88					actin polymerization or depolymerization|adult feeding behavior|decidualization|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of multicellular organism growth	cell surface|integral to membrane|membrane raft|neuron projection|plasma membrane	growth hormone secretagogue receptor activity|growth hormone-releasing hormone receptor activity			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	33	Ovarian(172;0.00143)|Breast(254;0.197)		Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			TGAGCAGATCGGAGAAGGCCA	0.617000														28			19		0	0	0.012319	0	0
CLDN10	9071	broad.mit.edu	37	13	96205164	96205164	+	Missense_Mutation	SNP	T	G	G			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr13:96205164T>G	uc001vmh.2	+	0	218	c.157T>G	c.(157-159)Tgc>Ggc	p.C53G	CLDN10_uc001vmg.2_Intron|CLDN10_uc010tii.1_Intron	NM_006984	NP_008915	P78369	CLD10_HUMAN	Homo sapiens claudin 10 (CLDN10), transcript variant b, mRNA.	53					calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	15	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.18)			GTGGAAGGCGTGCGTTACCGA	0.647000														15			19		0	0	0.002780	0	0
MUC17	140453	broad.mit.edu	37	7	100681034	100681034	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:100681034C>T	uc003uxp.1	+	2	6390	c.6337C>T	c.(6337-6339)Ccg>Tcg	p.P2113S	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	2113	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CAGCACCACGCCGGTGGCCAG	0.498000														182			222		0	0	0.014410	0	0
PHLPP1	23239	broad.mit.edu	37	18	60497326	60497326	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr18:60497326C>T	uc021ule.1	+	1	1880	c.1635C>T	c.(1633-1635)gtC>gtT	p.V545V		NM_194449	NP_919431	O60346	PHLP1_HUMAN	Homo sapiens PH domain and leucine rich repeat protein phosphatase 1 (PHLPP1), mRNA.	545	PH.				apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol|membrane|nucleus	metal ion binding|protein serine/threonine phosphatase activity			endometrium(2)|kidney(2)|lung(13)	17						TGTATAATGTCCGTAAAGGCA	0.438000														15			10		0	0	0.010729	0	0
CD109	135228	broad.mit.edu	37	6	74516767	74516767	+	Missense_Mutation	SNP	C	T	T	rs141815508		TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr6:74516767C>T	uc003php.3	+	24	3592	c.3161C>T	c.(3160-3162)aCt>aTt	p.T1054I	CD109_uc003phq.3_Missense_Mutation_p.T1054I|CD109_uc010kba.3_Missense_Mutation_p.T977I	NM_133493	NP_598000	Q6YHK3	CD109_HUMAN	Homo sapiens CD109 molecule (CD109), transcript variant 1, mRNA.	1054						anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TATATTGTAACTTCTCTCCTG	0.363000														3			14		0	0	0.004007	0	0
OR5V1	81696	broad.mit.edu	37	6	29323340	29323340	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr6:29323340G>A	uc011dlo.2	-	0	715	c.633C>T	c.(631-633)ttC>ttT	p.F211F		NM_030876	NP_110503	Q9UGF6	OR5V1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily V, member 1 (OR5V1), mRNA.	211					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						CGATACAAAGGAAAGGAGTCC	0.478000														76			35		0	0	0.005524	0	0
DYDC2	84332	broad.mit.edu	37	10	82122713	82122713	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr10:82122713G>A	uc001kca.1	+	3	534	c.154G>A	c.(154-156)Gaa>Aaa	p.E52K	DYDC2_uc001kbz.1_Non-coding_Transcript|DYDC2_uc001kcb.1_Missense_Mutation_p.E52K	NM_032372	NP_115748	Q96IM9	DYDC2_HUMAN	Homo sapiens DPY30 domain containing 2 (DYDC2), mRNA.	52							protein binding			breast(1)|large_intestine(3)|lung(6)|skin(1)	11			Colorectal(32;0.229)			CCAGAATAGGGAAAAGAAGAT	0.493000														90			62		0	0	0.014410	0	0
ANK3	288	broad.mit.edu	37	10	61831521	61831521	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr10:61831521C>T	uc001jky.3	-	36	9456	c.9118G>A	c.(9118-9120)Gaa>Aaa	p.E3040K	ANK3_uc001jkw.3_Intron|ANK3_uc009xpa.3_Intron|ANK3_uc001jkx.3_Intron|ANK3_uc010qih.2_Intron|ANK3_uc001jkz.4_Intron|ANK3_uc001jkv.3_Intron|ANK3_uc009xpb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	3040					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						GTTTCGGTTTCCTCGAGAGGT	0.423000														54			44		0	0	0.014410	0	0
HEATR7B2	133558	broad.mit.edu	37	5	41000375	41000375	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:41000375C>T	uc003jmj.4	-	38	4919	c.4429G>A	c.(4429-4431)Gat>Aat	p.D1477N	HEATR7B2_uc003jmi.4_Missense_Mutation_p.D1032N	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	1477							binding			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4)	133						AGATCCTGATCAAGGAGACGG	0.502000														37			26		0	0	0.005443	0	0
HTR4	3360	broad.mit.edu	37	5	147830769	147830769	+	Silent	SNP	T	C	C			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:147830769T>C	uc021yfh.1	-	5	1190	c.1143A>G	c.(1141-1143)gaA>gaG	p.E381E	HTR4_uc021yfg.1_3'UTR|HTR4_uc010jgu.1_Non-coding_Transcript	NM_001040169	NP_001035259	Q13639	5HT4R_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 4 (HTR4), transcript variant a, mRNA.	0					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cell proliferation	endosome|integral to plasma membrane|membrane fraction	serotonin receptor activity			endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Cisapride(DB00604)|Rizatriptan(DB00953)|Tegaserod(DB01079)|Zolmitriptan(DB00315)	ATTCCAGGGATTCTGGGTCAT	0.463000														141			121		0	0	0.014410	0	0
TEX14	56155	broad.mit.edu	37	17	56688526	56688526	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr17:56688526C>T	uc010dcz.2	-	9	1316	c.1198G>A	c.(1198-1200)Gaa>Aaa	p.E400K	TEX14_uc002iwr.2_Missense_Mutation_p.E394K|TEX14_uc002iws.2_Missense_Mutation_p.E394K|TEX14_uc010dda.2_Missense_Mutation_p.E174K	NM_001201457	NP_001188386	Q8IWB6	TEX14_HUMAN	Homo sapiens testis expressed 14 (TEX14), transcript variant 3, mRNA.	400	Protein kinase.					cytoplasm	ATP binding|protein kinase activity			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GCCCACCTTTCCAACATGTAC	0.527000														86			63		0	0	0.014410	0	0
MAL2	114569	broad.mit.edu	37	8	120233971	120233971	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr8:120233971C>T	uc003yop.3	+	2	379	c.277C>T	c.(277-279)Caa>Taa	p.Q93*		NM_052886	NP_443118	Q969L2	MAL2_HUMAN	Homo sapiens mal, T-cell differentiation protein 2 (gene/pseudogene) (MAL2), mRNA.	93	MARVEL.					apical plasma membrane|endomembrane system|integral to membrane|perinuclear region of cytoplasm	protein binding					all_cancers(13;1.91e-26)|Lung NSC(37;8.61e-08)|Ovarian(258;0.018)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.000967)			CATGGTGGCTCAAATTGATGC	0.438000														48			48		0	0	0.014410	0	0
RNF19A	25897	broad.mit.edu	37	8	101270989	101270989	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr8:101270989G>A	uc003yjj.1	-	10	2629	c.2312C>T	c.(2311-2313)tCc>tTc	p.S771F	RNF19A_uc003yjk.1_Missense_Mutation_p.S771F	NM_015435	NP_904355	Q9NV58	RN19A_HUMAN	Homo sapiens ring finger protein 19A (RNF19A), transcript variant 2, mRNA.	771	Interaction with CASR.				microtubule cytoskeleton organization|protein modification process	centrosome|integral to membrane	ligase activity|transcription factor binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	30	all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166)		Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525)			CTGATGTGGGGAATTTTCCAG	0.403000														35			24		0	0	0.002780	0	0
LDB3	11155	broad.mit.edu	37	10	88476342	88476342	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr10:88476342C>T	uc001kdv.3	+	8	1513	c.1490C>T	c.(1489-1491)tCc>tTc	p.S497F	LDB3_uc010qml.1_Missense_Mutation_p.S434F|LDB3_uc010qmm.2_Missense_Mutation_p.S502F|LDB3_uc009xsz.3_Missense_Mutation_p.S126F|LDB3_uc001kdu.3_Missense_Mutation_p.S387F|LDB3_uc009xta.2_5'Flank	NM_007078	NP_009009	O75112	LDB3_HUMAN	Homo sapiens LIM domain binding 3 (LDB3), transcript variant 1, mRNA.	497						cytoskeleton|perinuclear region of cytoplasm|pseudopodium	zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1)	25						GATAGCTTCTCCCAGAAGTTT	0.667000														57			36		0	0	0.006999	0	0
FBXO40	51725	broad.mit.edu	37	3	121341303	121341303	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:121341303G>A	uc003eeg.2	+	2	1237	c.1027G>A	c.(1027-1029)Gaa>Aaa	p.E343K		NM_016298	NP_057382	Q9UH90	FBX40_HUMAN	Homo sapiens F-box protein 40 (FBXO40), mRNA.	343					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)		GGAGGCTCAGGAAGTTAAGAC	0.473000														28			28		0	0	0.004656	0	0
RELN	5649	broad.mit.edu	37	7	103294586	103294586	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:103294586C>T	uc022ajr.1	-	12	1668	c.1508G>A	c.(1507-1509)aGa>aAa	p.R503K	RELN_uc022ajq.1_Missense_Mutation_p.R503K|RELN_uc010liz.3_Missense_Mutation_p.R503K	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	503					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		ATGCTCTTTTCTTCCTTCAAT	0.398000														40			53		0	0	0.014410	0	0
ZNF559	84527	broad.mit.edu	37	19	9453349	9453349	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:9453349C>T	uc002mle.4	+	5	1821	c.1414C>T	c.(1414-1416)Ccc>Tcc	p.P472S	ZNF559_uc002mld.3_3'UTR|ZNF559_uc021uoj.1_Missense_Mutation_p.P366S|ZNF559_uc010xkn.2_Missense_Mutation_p.P400S|ZNF559_uc021uok.1_Missense_Mutation_p.P408S|ZNF559_uc021uol.1_3'UTR|ZNF559_uc010dwk.2_3'UTR|ZNF559_uc002mlf.3_3'UTR|ZNF559_uc010dwl.2_3'UTR|ZNF559_uc021uom.1_3'UTR|ZNF177_uc002mli.3_Intron|ZNF177_uc002mlj.3_Intron	NM_001202406	NP_001189335	Q9BR84	ZN559_HUMAN	Homo sapiens zinc finger protein 559 (ZNF559), transcript variant 1, mRNA.	408					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|large_intestine(7)|lung(15)|ovary(1)|urinary_tract(1)	26						TGGTGTAAAACCCTATGACTG	0.408000														43			21		0	0	0.012319	0	0
TMC3	342125	broad.mit.edu	37	15	81654585	81654585	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr15:81654585C>T	uc021ssk.1	-	3	370	c.370G>A	c.(370-372)Gaa>Aaa	p.E124K	TMC3_uc021ssj.1_Missense_Mutation_p.E124K|TMC3_uc010blr.1_Non-coding_Transcript|TMC3_uc002bgp.3_Missense_Mutation_p.E124K	NM_001080532	NP_001074001	Q7Z5M5	TMC3_HUMAN	Homo sapiens transmembrane channel-like 3 (TMC3), mRNA.	124						integral to membrane				autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						ATCCTCATTTCCCAGGGAATG	0.483000														6			7		0	0	0.001984	0	0
HMGN5	79366	broad.mit.edu	37	X	80370690	80370690	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:80370690C>T	uc004eee.1	-	6	636	c.307G>A	c.(307-309)Gaa>Aaa	p.E103K		NM_030763	NP_110390	P82970	HMGN5_HUMAN	Homo sapiens high mobility group nucleosome binding domain 5 (HMGN5), mRNA.	103					chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin|nucleolus	DNA binding|chromatin binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	10						TCAATATTTTCTTCTTTTACT	0.348000														8			10		0	0	0.008291	0	0
PCDH18	54510	broad.mit.edu	37	4	138451460	138451460	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr4:138451460C>T	uc003ihe.4	-	0	2170	c.1783G>A	c.(1783-1785)Gaa>Aaa	p.E595K	PCDH18_uc003ihf.4_Missense_Mutation_p.E588K|PCDH18_uc011cgz.2_Intron|PCDH18_uc003ihg.4_Missense_Mutation_p.E375K|PCDH18_uc011cha.2_Intron	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	Homo sapiens protocadherin 18 (PCDH18), mRNA.	595	Cadherin 6.				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)					AAGCCACTTTCAGCCCCTTTG	0.453000														104			90		0	0	0.014410	0	0
HDHD1	8226	broad.mit.edu	37	X	6968386	6968386	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:6968386G>A	uc004crv.2	-	3	715	c.638C>T	c.(637-639)tCc>tTc	p.S213F	HDHD1_uc011mhm.1_Missense_Mutation_p.S236F|HDHD1_uc011mhn.1_Missense_Mutation_p.S170F|HDHD1_uc010ndl.2_3'UTR	NM_012080	NP_036212	Q08623	HDHD1_HUMAN	Homo sapiens haloacid dehalogenase-like hydrolase domain containing 1 (HDHD1), transcript variant 2, mRNA.	213					nucleotide metabolic process		metal ion binding|phosphatase activity			breast(2)|large_intestine(1)|lung(3)	6						GTCCTGCAGGGAATTCAGCAC	0.612000														14			20		0	0	0.012319	0	0
SOX13	9580	broad.mit.edu	37	1	204093774	204093774	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:204093774C>T	uc001ham.3	+	12	1976	c.1381C>T	c.(1381-1383)Cgc>Tgc	p.R461C	SOX13_uc010pqp.2_Missense_Mutation_p.R460C|SOX13_uc010pqq.2_Missense_Mutation_p.R328C	NM_005686	NP_005677	Q9UN79	SOX13_HUMAN	Homo sapiens SRY (sex determining region Y)-box 13 (SOX13), mRNA.	461					anatomical structure morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)	13	all_cancers(21;0.0754)|Breast(84;0.116)|all_epithelial(62;0.189)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)			GTCAGGATCTCGCTGGAAGTC	0.607000														0			20		0	0	0.002780	0	0
CNR2	1269	broad.mit.edu	37	1	24201950	24201950	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:24201950G>A	uc021oij.1	-	0	158	c.158C>T	c.(157-159)gCt>gTt	p.A53V	CNR2_uc001bif.3_Missense_Mutation_p.A53V	NM_001841	NP_001832	P34972	CNR2_HUMAN	Homo sapiens cannabinoid receptor 2 (macrophage) (CNR2), mRNA.	53					G-protein signaling, coupled to cyclic nucleotide second messenger|behavior|immune response|inflammatory response	dendrite|integral to plasma membrane|perikaryon	cannabinoid receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(9)|pancreas(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(2)	26		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.32e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;2.9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.146)	Nabilone(DB00486)	ATAGAGCACAGCCACGTTCTC	0.562000														2			49		0	0	0.014410	0	0
HS2ST1	9653	broad.mit.edu	37	1	87570169	87570169	+	Silent	SNP	T	C	C			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:87570169T>C	uc010osk.2	+	6	1246	c.861T>C	c.(859-861)ctT>ctC	p.L287L	HS2ST1_uc001dme.2_Intron	NM_012262	NP_036394	Q7LGA3	HS2ST_HUMAN	Homo sapiens heparan sulfate 2-O-sulfotransferase 1 (HS2ST1), transcript variant 1, mRNA.	287						Golgi membrane|integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)	9		Lung NSC(277;0.153)		all cancers(265;0.00699)|Epithelial(280;0.0261)		AATCTCATCTTAGGAAAACCA	0.353000														4			64		0	0	0.014410	0	0
AGBL2	79841	broad.mit.edu	37	11	47689234	47689234	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:47689234C>T	uc001ngg.3	-	15	2531	c.2229G>A	c.(2227-2229)aaG>aaA	p.K743K	AGBL2_uc001ngf.3_Non-coding_Transcript|AGBL2_uc010rhq.1_Silent_p.K705K	NM_024783	NP_079059	Q5U5Z8	CBPC2_HUMAN	Homo sapiens ATP/GTP binding protein-like 2 (AGBL2), mRNA.	743					proteolysis	cytosol	metallocarboxypeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)	34						TAAACATCTTCTTTTTCTGAG	0.378000														33			25		0	0	0.003954	0	0
PMP2	5375	broad.mit.edu	37	8	82356784	82356784	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr8:82356784C>T	uc003ycb.1	-	2	397	c.299G>A	c.(298-300)gGc>gAc	p.G100D	PMP2_uc010lzv.1_Non-coding_Transcript	NM_002677	NP_002668	P02689	MYP2_HUMAN	Homo sapiens peripheral myelin protein 2 (PMP2), mRNA.	100						cytoplasm	cholesterol binding|fatty acid binding|transporter activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6			Epithelial(68;0.186)			TGTCTCTTTGCCATCCCATCT	0.378000														47			18		0	0	0.008871	0	0
ZBTB41	360023	broad.mit.edu	37	1	197160868	197160868	+	Missense_Mutation	SNP	T	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:197160868T>A	uc001gtx.1	-	1	1351	c.1282A>T	c.(1282-1284)Aat>Tat	p.N428Y	ZBTB41_uc009wyz.1_Non-coding_Transcript	NM_194314	NP_919290	Q5SVQ8	ZBT41_HUMAN	Homo sapiens zinc finger and BTB domain containing 41 (ZBTB41), mRNA.	428					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(11)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	40						TGAAGTTTATTACAATAAGGG	0.343000														33			27		0	0	0.005443	0	0
GRK7	131890	broad.mit.edu	37	3	141535598	141535598	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:141535598G>A	uc011bnd.2	+	3	1452	c.1368G>A	c.(1366-1368)acG>acA	p.T456T		NM_139209	NP_631948	Q8WTQ7	GRK7_HUMAN	Homo sapiens G protein-coupled receptor kinase 7 (GRK7), mRNA.	456	AGC-kinase C-terminal.				visual perception	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						TCTTTAAAACGATCAACTTTC	0.423000														65			44		0	0	0.014410	0	0
DCC	1630	broad.mit.edu	37	18	50912481	50912481	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr18:50912481G>A	uc002lfe.2	+	15	3044	c.2428G>A	c.(2428-2430)Gaa>Aaa	p.E810K	DCC_uc010xdr.1_Missense_Mutation_p.E658K|DCC_uc010dpf.2_Missense_Mutation_p.E465K	NM_005215	NP_005206	P43146	DCC_HUMAN	Homo sapiens deleted in colorectal carcinoma (DCC), mRNA.	810	Fibronectin type-III 4.				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)		TCCTCTTTATGAAAGTGCCAC	0.343000														41			24		0	0	0.004656	0	0
KRT4	3851	broad.mit.edu	37	12	53207559	53207559	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:53207559C>T	uc001saz.3	-	0	506	c.506G>A	c.(505-507)gGt>gAt	p.G169D		NM_002272	NP_002263	B4DRS2	B4DRS2_HUMAN	Homo sapiens keratin 4 (KRT4), mRNA.	95						keratin filament	structural molecule activity			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						GCCACCCTTACCACTGAAGGA	0.617000														24			13		0	0	0.004007	0	0
RNASE8	122665	broad.mit.edu	37	14	21526300	21526300	+	Missense_Mutation	SNP	G	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr14:21526300G>T	uc010tlm.2	+	0	249	c.249G>T	c.(247-249)caG>caT	p.Q83H	NDRG2_uc010tll.2_Intron	NM_138331	NP_612204	Q8TDE3	RNAS8_HUMAN	Homo sapiens ribonuclease, RNase A family, 8 (RNASE8), mRNA.	83						extracellular region	nucleic acid binding|pancreatic ribonuclease activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4	all_cancers(95;0.000759)		OV - Ovarian serous cystadenocarcinoma(11;3.42e-11)|Epithelial(56;5.57e-09)|all cancers(55;2.36e-08)	GBM - Glioblastoma multiforme(265;0.0188)		TCACCTGCCAGACCCCCAACA	0.547000														47			25		1.04121e-07	1.40477e-07	0.005443	1	0
SDR16C5	195814	broad.mit.edu	37	8	57221505	57221505	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr8:57221505C>T	uc010lyk.1	-	3	1185	c.547G>A	c.(547-549)Gga>Aga	p.G183R	SDR16C5_uc003xsy.1_Missense_Mutation_p.G183R|SDR16C5_uc010lyl.1_Missense_Mutation_p.G139R	NM_138969	NP_620419	Q8N3Y7	RDHE2_HUMAN	Homo sapiens short chain dehydrogenase/reductase family 16C, member 5 (SDR16C5), mRNA.	183					detection of light stimulus involved in visual perception|keratinocyte proliferation|retinal metabolic process|retinol metabolic process	endoplasmic reticulum membrane|integral to membrane|integral to membrane of membrane fraction	binding|retinol dehydrogenase activity	p.S182G(1)		breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)	16						CCATTTACTCCACTTAATCCA	0.348000														28			39		0	0	0.008740	0	0
ADAMTS2	9509	broad.mit.edu	37	5	178634556	178634556	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:178634556C>T	uc003mjw.3	-	3	951	c.849G>A	c.(847-849)ggG>ggA	p.G283G	ADAMTS2_uc011dgm.2_Silent_p.G283G	NM_014244	NP_055059	O95450	ATS2_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 2 (ADAMTS2), transcript variant 1, mRNA.	283	Peptidase M12B.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		CGTGCTCCTTCCCGTGGAACT	0.632000														44			57		0	0	0.014410	0	0
UBE2D1	7321	broad.mit.edu	37	10	60124590	60124590	+	Silent	SNP	C	T	T	rs144227480	byFrequency	TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr10:60124590C>T	uc001jke.2	+	4	481	c.258C>T	c.(256-258)ctC>ctT	p.L86L	UBE2D1_uc021prc.1_Silent_p.L48L	NM_003338	NP_003329	P51668	UB2D1_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2D 1 (UBE2D1), transcript variant 1, mRNA.	86					BMP signaling pathway|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K48-linked ubiquitination|transforming growth factor beta receptor signaling pathway	cytosol|nucleoplasm	ATP binding|protein binding|ubiquitin-protein ligase activity			central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|prostate(1)|skin(2)	10						GTATTTGTCTCGATATTCTGA	0.323000														34			28		0	0	0.009535	0	0
TRIM21	6737	broad.mit.edu	37	11	4406957	4406957	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:4406957G>A	uc001lyy.1	-	6	1099	c.986C>T	c.(985-987)cCt>cTt	p.P329L		NM_003141	NP_003132	P19474	RO52_HUMAN	Homo sapiens tripartite motif containing 21 (TRIM21), mRNA.	329	B30.2/SPRY.				cell cycle|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein deubiquitination|positive regulation of cell cycle|protein autoubiquitination|protein destabilization|protein monoubiquitination|protein polyubiquitination|protein trimerization	cytoplasmic mRNA processing body|nucleus	DNA binding|RNA binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)	16		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;2.08e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0851)|LUSC - Lung squamous cell carcinoma(625;0.194)		CAGGACCATAGGATAACTATC	0.507000														4			5		0	0	0.001168	0	0
ZC3H7B	23264	broad.mit.edu	37	22	41751783	41751783	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr22:41751783C>T	uc003azw.3	+	18	2407	c.2191C>T	c.(2191-2193)Ctt>Ttt	p.L731F		NM_017590	NP_060060	Q9UGR2	Z3H7B_HUMAN	Homo sapiens zinc finger CCCH-type containing 7B (ZC3H7B), mRNA.	747					interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						GCGGCGGGTCCTTCTGGTGAT	0.602000														9			10		0	0	0.008291	0	0
SMOC1	64093	broad.mit.edu	37	14	70459159	70459159	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr14:70459159G>A	uc001xlt.2	+	5	834	c.552G>A	c.(550-552)acG>acA	p.T184T	SMOC1_uc001xls.2_Silent_p.T184T	NM_001034852	NP_001030024	Q9H4F8	SMOC1_HUMAN	Homo sapiens SPARC related modular calcium binding 1 (SMOC1), transcript variant 1, mRNA.	184					cell differentiation|eye development|limb development|regulation of osteoblast differentiation|signal transduction	basement membrane	calcium ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	21				all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)		CGACACCCACGATGGAGACCC	0.438000														33			24		0	0	0.007291	0	0
CSNK1G1	53944	broad.mit.edu	37	15	64506176	64506176	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr15:64506176C>T	uc002anf.3	-	5	1072	c.592G>A	c.(592-594)Gaa>Aaa	p.E198K	CSNK1G1_uc002ane.3_Non-coding_Transcript|CSNK1G1_uc002ang.1_Missense_Mutation_p.E198K|CSNK1G1_uc002anh.1_Missense_Mutation_p.E198K|CSNK1G1_uc002anj.3_Missense_Mutation_p.E180K	NM_022048	NP_071331	Q9HCP0	KC1G1_HUMAN	Homo sapiens casein kinase 1, gamma 1 (CSNK1G1), mRNA.	198	Protein kinase.				Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity	p.P197P(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|urinary_tract(1)	13						TTTTTGGTTTCGGGGTCAATG	0.393000														82			74		0	0	0.014410	0	0
EPB49	2039	broad.mit.edu	37	8	21938320	21938320	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr8:21938320G>A	uc022asw.1	+	12	1000	c.962G>A	c.(961-963)gGa>gAa	p.G321E	EPB49_uc022asq.1_Intron|EPB49_uc022asr.1_Silent_p.R318R|EPB49_uc022ass.1_Intron|EPB49_uc022ast.1_Silent_p.R318R|EPB49_uc022asu.1_Silent_p.R318R|EPB49_uc022asv.1_Intron|EPB49_uc022asx.1_Intron|EPB49_uc022asy.1_Intron	NM_001978	NP_001969	Q08495	DEMA_HUMAN	Homo sapiens erythrocyte membrane protein band 4.9 (dematin) (EPB49), transcript variant 1, mRNA.	321					actin filament bundle assembly|actin filament capping	actin cytoskeleton|nucleus	actin binding			central_nervous_system(1)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	10				Colorectal(74;9.05e-05)|READ - Rectum adenocarcinoma(5;0.0276)|COAD - Colon adenocarcinoma(73;0.0631)		CCCCAGAACGGAGAGGGCCAG	0.667000														9			7		0	0	0.003080	0	0
GIMAP4	55303	broad.mit.edu	37	7	150269557	150269557	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:150269557C>T	uc003whl.3	+	2	481	c.399C>T	c.(397-399)gcC>gcT	p.A133A	GIMAP4_uc011kuu.2_Intron|GIMAP4_uc011kuv.2_Silent_p.A147A	NM_018326	NP_060796	Q9NUV9	GIMA4_HUMAN	Homo sapiens GTPase, IMAP family member 4 (GIMAP4), mRNA.	133							GTP binding			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(82;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGCACAAAGCCACAGAGAAGA	0.483000														34			53		0	0	0.014410	0	0
SKOR1	390598	broad.mit.edu	37	15	68125554	68125554	+	Missense_Mutation	SNP	A	C	C			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr15:68125554A>C	uc002aqy.1	+	8	2630	c.2630A>C	c.(2629-2631)cAg>cCg	p.Q877P		NM_001031807	NP_001026977	P84550	SKOR1_HUMAN	Homo sapiens SKI family transcriptional corepressor 1 (SKOR1), mRNA.	921					negative regulation of BMP signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	cytoplasm|dendrite|neuronal cell body|nucleus	SMAD binding|nucleotide binding|transcription repressor activity			endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(7)|urinary_tract(1)	23						GAACTCGACCAGGAGCGGAAG	0.617000														28			16		0	0	0.010504	0	0
SNTG2	54221	broad.mit.edu	37	2	1263153	1263153	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:1263153C>T	uc002qwq.3	+	12	1146	c.1017C>T	c.(1015-1017)ttC>ttT	p.F339F	SNTG2_uc010ewi.3_Silent_p.F212F	NM_018968	NP_061841	Q9NY99	SNTG2_HUMAN	Homo sapiens syntrophin, gamma 2 (SNTG2), mRNA.	339	PH.				central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	PDZ domain binding|actin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		TGAGCACATTCGATTGGGTGC	0.383000														29			27		0	0	0.009535	0	0
OSBPL6	114880	broad.mit.edu	37	2	179247909	179247909	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:179247909G>A	uc002uly.3	+	17	2399	c.1855G>A	c.(1855-1857)Gag>Aag	p.E619K	MIR548N_uc021vsx.1_Intron|OSBPL6_uc002ulx.3_Missense_Mutation_p.E594K|OSBPL6_uc010zfe.2_Missense_Mutation_p.E563K|OSBPL6_uc002ulz.3_Missense_Mutation_p.E558K|OSBPL6_uc002uma.3_Missense_Mutation_p.E598K	NM_001201480	NP_001188409	Q9BZF3	OSBL6_HUMAN	Homo sapiens oxysterol binding protein-like 6 (OSBPL6), transcript variant 3, mRNA.	594					lipid transport		lipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			GGAGCTAAACGAGCCGCTCAA	0.478000														19			22		0	0	0.002780	0	0
HMGB4	127540	broad.mit.edu	37	1	34330057	34330057	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:34330057G>A	uc021oky.1	+	0	265	c.265G>A	c.(265-267)Gat>Aat	p.D89N	CSMD2_uc001bxm.1_Intron|CSMD2_uc001bxn.1_Intron|HMGB4_uc001bxp.3_Missense_Mutation_p.D89N|HMGB4_uc001bxq.3_Missense_Mutation_p.D15N	NM_145205	NP_660206	B2R4X7	B2R4X7_HUMAN	Homo sapiens high mobility group box 4 (HMGB4), transcript variant 1, mRNA.	89						nucleus	DNA binding			NS(1)|breast(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				GAGAAAGCGGGATCCCCAGGA	0.517000														7			81		0	0	0.014410	0	0
PPIL2	23759	broad.mit.edu	37	22	22036806	22036806	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr22:22036806C>T	uc010gtj.1	+	7	584	c.468C>T	c.(466-468)atC>atT	p.I156I	PPIL2_uc002zvh.4_Silent_p.I156I|PPIL2_uc002zvi.4_Silent_p.I156I|PPIL2_uc002zvg.4_Silent_p.I156I|PPIL2_uc011aij.2_Silent_p.I135I	NM_148175	NP_680480	Q13356	PPIL2_HUMAN	Homo sapiens peptidylprolyl isomerase (cyclophilin)-like 2 (PPIL2), transcript variant 2, mRNA.	156					blood coagulation|leukocyte migration|protein folding|protein polyubiquitination	Golgi lumen|nucleus|ubiquitin ligase complex	peptidyl-prolyl cis-trans isomerase activity|ubiquitin-ubiquitin ligase activity			endometrium(4)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	17	Colorectal(54;0.105)					AGGACATCATCACCCTCCAGG	0.637000														13			15		0	0	0.003163	0	0
EFHC1	114327	broad.mit.edu	37	6	52303121	52303121	+	Missense_Mutation	SNP	A	G	G			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr6:52303121A>G	uc003pap.4	+	2	520	c.305A>G	c.(304-306)tAt>tGt	p.Y102C	EFHC1_uc011dwv.1_Missense_Mutation_p.Y11C|EFHC1_uc011dww.2_Missense_Mutation_p.Y83C	NM_018100	NP_060570	Q5JVL4	EFHC1_HUMAN	Homo sapiens EF-hand domain (C-terminal) containing 1 (EFHC1), transcript variant A, mRNA.	102	DM10 1.					axoneme|neuronal cell body	calcium ion binding|protein C-terminus binding			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	27	Lung NSC(77;0.109)					TTTGATGCCTATTTCCAAGAA	0.363000														13			12		0	0	0.013537	0	0
HAVCR2	84868	broad.mit.edu	37	5	156533826	156533826	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:156533826C>T	uc003lwk.2	-	1	460	c.206G>A	c.(205-207)aGg>aAg	p.R69K	HAVCR2_uc003lwl.3_Missense_Mutation_p.R69K	NM_032782	NP_116171	Q8TDQ0	HAVR2_HUMAN	Homo sapiens hepatitis A virus cellular receptor 2 (HAVCR2), mRNA.	69	Ig-like V-type.					integral to membrane				cervix(1)|large_intestine(4)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	22	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TTCATCAGTCCTGAGCACCAC	0.537000														317			301		0	0	0.014410	0	0
CFTR	1080	broad.mit.edu	37	7	117232512	117232512	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:117232512G>A	uc003vjd.3	+	13	2423	c.2291G>A	c.(2290-2292)cGa>cAa	p.R764Q	CFTR_uc011knq.2_Missense_Mutation_p.R170Q	NM_000492	NP_000483	P13569	CFTR_HUMAN	Homo sapiens cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) (CFTR), mRNA.	764					respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|PDZ domain binding|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding	p.R764*(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	CTTCAGGCACGAAGGAGGCAG	0.532000									Cystic Fibrosis					22			11		0	0	0.008291	0	0
LRRIQ4	344657	broad.mit.edu	37	3	169540261	169540261	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:169540261C>T	uc003fgb.3	+	0	552	c.552C>T	c.(550-552)ctC>ctT	p.L184L		NM_001080460	NP_001073929	A6NIV6	LRIQ4_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 4 (LRRIQ4), mRNA.	184										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						CCCAGGAGCTCTGTGTTCTCT	0.493000														47			42		0	0	0.006999	0	0
TMEM26	219623	broad.mit.edu	37	10	63188716	63188716	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr10:63188716G>A	uc001jlo.2	-	3	942	c.573C>T	c.(571-573)ttC>ttT	p.F191F	TMEM26_uc001jlq.3_Non-coding_Transcript	NM_178505	NP_848600	Q6ZUK4	TMM26_HUMAN	Homo sapiens transmembrane protein 26 (TMEM26), mRNA.	191						integral to membrane				kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	18	Prostate(12;0.0112)					TCTCACTTGTGAATTCCAGTA	0.463000														31			21		0	0	0.004656	0	0
ADAMTS10	81794	broad.mit.edu	37	19	8650481	8650481	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:8650481C>T	uc002mkj.1	-	22	2998	c.2724G>A	c.(2722-2724)tcG>tcA	p.S908S	ADAMTS10_uc002mki.1_Silent_p.S395S|ADAMTS10_uc002mkk.1_Silent_p.S540S	NM_030957	NP_112219	Q9H324	ATS10_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 10 (ADAMTS10), mRNA.	908	TSP type-1 3.				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						GGCACACGACCGAGCGGCTGC	0.682000														11			8		0	0	0.004482	0	0
FASTK	10922	broad.mit.edu	37	7	150775013	150775013	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:150775013C>T	uc003wix.1	-	4	1090	c.992G>A	c.(991-993)aGa>aAa	p.R331K	AK296065_uc011kvf.2_5'Flank|FASTK_uc003wiw.1_Missense_Mutation_p.R92K|FASTK_uc003wiy.1_Missense_Mutation_p.R190K|FASTK_uc003wiz.1_Missense_Mutation_p.R304K|FASTK_uc003wja.1_3'UTR	NM_006712	NP_006703	Q14296	FASTK_HUMAN	Homo sapiens Fas-activated serine/threonine kinase (FASTK), transcript variant 1, mRNA.	331					apoptosis|induction of apoptosis by extracellular signals|regulation of RNA splicing		ATP binding|Fas-activated serine/threonine kinase activity|protein binding			lung(4)|stomach(2)	6			OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.0718)|Lung(243;0.138)		GTGCAGGGCTCTGAAGGGCAG	0.607000														21			48		0	0	0.014410	0	0
abParts	0	broad.mit.edu	37	14	106926618	106926618	+	RNA	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr14:106926618G>A	uc021ser.1	-	324		c.11353C>T								Parts of antibodies, mostly variable regions.																		TAGCAACAAGGAAAACCCAGC	0.473000														104			53		0	0	0.014410	0	0
VGLL3	389136	broad.mit.edu	37	3	87017746	87017746	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:87017746C>T	uc003dqn.3	-	2	1295	c.931G>A	c.(931-933)Gat>Aat	p.D311N		NM_016206	NP_057290	A8MV65	VGLL3_HUMAN	Homo sapiens vestigial like 3 (Drosophila) (VGLL3), mRNA.	311					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		p.D311N(2)		NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11)	19	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		TTACCTGTATCGAATCCCACG	0.393000														30			30		0	0	0.013726	0	0
RRP1	8568	broad.mit.edu	37	21	45215096	45215096	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr21:45215096C>T	uc002zds.2	+	4	480	c.387C>T	c.(385-387)tcC>tcT	p.S129S	RRP1_uc011aez.1_Silent_p.S129S|RRP1_uc010gpl.1_Silent_p.S27S|RRP1_uc010gpm.1_5'Flank	NM_003683	NP_003674	P56182	RRP1_HUMAN	Homo sapiens ribosomal RNA processing 1 homolog (S. cerevisiae) (RRP1), mRNA.	129					rRNA processing	nucleolus|preribosome, small subunit precursor				central_nervous_system(1)|kidney(1)|lung(4)|stomach(2)	8				COAD - Colon adenocarcinoma(84;0.00753)|Colorectal(79;0.0157)|STAD - Stomach adenocarcinoma(101;0.171)		TGAACGAGTCCTTGAAGGTTC	0.587000														49			34		0	0	0.004289	0	0
MMP14	4323	broad.mit.edu	37	14	23313662	23313662	+	Missense_Mutation	SNP	C	G	G			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr14:23313662C>G	uc001whc.3	+	6	1328	c.1094C>G	c.(1093-1095)cCt>cGt	p.P365R		NM_004995	NP_004986	P50281	MMP14_HUMAN	Homo sapiens matrix metallopeptidase 14 (membrane-inserted) (MMP14), mRNA.	365	Hemopexin-like 1.					extracellular matrix|integral to plasma membrane|melanosome	calcium ion binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	20	all_cancers(95;9.47e-05)			GBM - Glioblastoma multiforme(265;0.00551)		CGGGGCCTGCCTGCGTCCATC	0.557000														87			63		0	0	0.014410	0	0
OR10G2	26534	broad.mit.edu	37	14	22102815	22102815	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr14:22102815G>A	uc010tmc.2	-	0	184	c.184C>T	c.(184-186)Cgc>Tgc	p.R62C		NM_001005466	NP_001005466	Q8NGC3	O10G2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 2 (OR10G2), mRNA.	62					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2)	22	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0142)		TACATGGGGCGAGCACAGAGC	0.512000														21			34		0	0	0.003755	0	0
TBXA2R	6915	broad.mit.edu	37	19	3600130	3600130	+	Missense_Mutation	SNP	A	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:3600130A>T	uc002lyg.2	-	1	890	c.503T>A	c.(502-504)cTg>cAg	p.L168Q	TBXA2R_uc021umv.1_Missense_Mutation_p.L168Q	NM_001060	NP_001051	P21731	TA2R_HUMAN	Homo sapiens thromboxane A2 receptor (TBXA2R), transcript variant a, mRNA.	168					platelet activation	integral to plasma membrane	guanyl-nucleotide exchange factor activity|protein binding|thromboxane A2 receptor activity			kidney(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	8		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)	Ridogrel(DB01207)	CACGCCCAGCAGGGGCAGCAG	0.761000														9			7		0	0	0.001984	0	0
CCDC39	339829	broad.mit.edu	37	3	180349328	180349328	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:180349328C>T	uc010hxe.3	-	13	2042	c.1927G>A	c.(1927-1929)Gaa>Aaa	p.E643K	CCDC39_uc003fkn.3_Non-coding_Transcript	NM_181426	NP_852091	Q9UFE4	CCD39_HUMAN	Homo sapiens coiled-coil domain containing 39 (CCDC39), mRNA.	643					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			GTCAGAATTTCATATCTATTC	0.343000														38			29		0	0	0.007291	0	0
RRP7A	27341	broad.mit.edu	37	22	42912127	42912127	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr22:42912127G>A	uc003bcp.3	-	0	795	c.301C>T	c.(301-303)Ctc>Ttc	p.L101F	RRP7A_uc003bcq.3_Missense_Mutation_p.L78F	NM_015703	NP_056518	Q9Y3A4	RRP7A_HUMAN	Homo sapiens ribosomal RNA processing 7 homolog A (S. cerevisiae) (RRP7A), mRNA.	78							RNA binding|nucleotide binding			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|lung(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	10						GTGGACAGGAGGCGGGACAGG	0.622000														30			15		0	0	0.004007	0	0
FGD2	221472	broad.mit.edu	37	6	36982788	36982788	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr6:36982788G>A	uc010jwp.1	+	7	1174	c.1003G>A	c.(1003-1005)Gac>Aac	p.D335N	FGD2_uc003ong.2_Missense_Mutation_p.D57N|FGD2_uc011dtv.1_5'UTR|FGD2_uc003oni.1_Missense_Mutation_p.D141N	NM_173558	NP_775829	Q7Z6J4	FGD2_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 2 (FGD2), mRNA.	335	PH 1.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	Golgi apparatus|cytoskeleton|cytosol|early endosome membrane|lamellipodium|nucleus|ruffle membrane	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	25						CCGCCGCAACGACCCCATGGA	0.622000														34			10		0	0	0.006214	0	0
CXCR3	2833	broad.mit.edu	37	X	70837017	70837017	+	Missense_Mutation	SNP	A	G	G			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:70837017A>G	uc022bys.1	-	0	446	c.446T>C	c.(445-447)cTg>cCg	p.L149P	BCYRN1_uc011mpt.1_Intron|CXCR3_uc004eaf.3_Missense_Mutation_p.L102P|CXCR3_uc011mpx.2_Missense_Mutation_p.L149P	NM_001142797	NP_001136269	P49682	CXCR3_HUMAN	Homo sapiens chemokine (C-X-C motif) receptor 3 (CXCR3), transcript variant 2, mRNA.	102					cell adhesion|cellular component movement|chemotaxis|elevation of cytosolic calcium ion concentration	cytoplasm|integral to plasma membrane	C-X-C chemokine receptor activity			breast(1)|central_nervous_system(2)|large_intestine(2)|lung(3)|ovary(2)	10	Renal(35;0.156)					TGTCAGCACCAGCAGCGTGTC	0.647000														17			7		0	0	0.004482	0	0
OR6C3	254786	broad.mit.edu	37	12	55725661	55725661	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:55725661C>T	uc010spj.2	+	0	177	c.177C>T	c.(175-177)ttC>ttT	p.F59F		NM_054104	NP_473445	Q9NZP0	OR6C3_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 3 (OR6C3), mRNA.	59					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	11						TGTATTTCTTCCTCCGGAACT	0.383000														79			68		0	0	0.014410	0	0
RUNX2	860	broad.mit.edu	37	6	45514563	45514563	+	Splice_Site	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr6:45514563G>A	uc011dvx.2	+	9	1298	c.1088_splice	c.e9-1	p.G363_splice	RUNX2_uc011dvy.2_Splice_Site_p.G341_splice|RUNX2_uc003oxt.3_Splice_Site_p.G349_splice	NM_001024630	NP_001019801	Q13950	RUNX2_HUMAN	Homo sapiens runt-related transcription factor 2 (RUNX2), transcript variant 1, mRNA.	363	Interaction with MYST3 (By similarity).|Pro/Ser/Thr-rich.				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						ATAATTTTTAGGTGCTTCAGA	0.393000														40			35		0	0	0.006999	0	0
PRAMEF4	400735	broad.mit.edu	37	1	12942094	12942094	+	Silent	SNP	G	A	A	rs148045269	byFrequency	TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:12942094G>A	uc001aun.2	-	2	527	c.456C>T	c.(454-456)ttC>ttT	p.F152F		NM_001009611	NP_001009611	O60810	PRAM4_HUMAN	Homo sapiens PRAME family member 4 (PRAMEF4), mRNA.	152										breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(3)|skin(1)	24	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		AAAGTTCTACGAACACAGTCA	0.498000														26			209		0	0	0.014410	0	0
NRP1	8829	broad.mit.edu	37	10	33502610	33502610	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr10:33502610C>T	uc001iwx.4	-	8	1841	c.1318G>A	c.(1318-1320)Gga>Aga	p.G440R	NRP1_uc001iwv.4_Missense_Mutation_p.G440R|NRP1_uc001iwy.4_Missense_Mutation_p.G440R|NRP1_uc009xlz.3_Missense_Mutation_p.G440R|NRP1_uc001iww.4_Missense_Mutation_p.G259R|NRP1_uc001iwz.2_Missense_Mutation_p.G440R|NRP1_uc001ixa.2_Missense_Mutation_p.G440R|NRP1_uc001ixb.2_Missense_Mutation_p.G440R|NRP1_uc001ixc.1_Missense_Mutation_p.G440R	NM_003873	NP_003864	O14786	NRP1_HUMAN	Homo sapiens neuropilin 1 (NRP1), transcript variant 1, mRNA.	440	F5/8 type C 2.				axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	GAAATAAGTCCAGACACCATA	0.458000														50			32		0	0	0.003271	0	0
DAB1	1600	broad.mit.edu	37	1	57476871	57476871	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:57476871C>T	uc009vzx.1	-	12	1839	c.1519G>A	c.(1519-1521)Gac>Aac	p.D507N	DAB1_uc001cyt.1_Missense_Mutation_p.D505N|DAB1_uc001cyq.1_Missense_Mutation_p.D505N|DAB1_uc001cyr.1_Missense_Mutation_p.D421N|DAB1_uc009vzw.1_Missense_Mutation_p.D489N|DAB1_uc001cys.1_Missense_Mutation_p.D507N	NM_021080	NP_066566	O75553	DAB1_HUMAN	Homo sapiens disabled homolog 1 (Drosophila) (DAB1), mRNA.	540					cell differentiation|nervous system development					central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						TCAAAGATGTCATCTGTGGTA	0.443000														5			80		0	0	0.014410	0	0
FRMD7	90167	broad.mit.edu	37	X	131212947	131212947	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:131212947C>T	uc004ewn.3	-	11	1276	c.1098G>A	c.(1096-1098)gtG>gtA	p.V366V	FRMD7_uc022cdy.1_Silent_p.V246V|FRMD7_uc011muy.2_Silent_p.V351V	NM_194277	NP_919253	Q6ZUT3	FRMD7_HUMAN	Homo sapiens FERM domain containing 7 (FRMD7), mRNA.	366					regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Acute lymphoblastic leukemia(192;0.000127)					GCACTCCATTCACATTTTGGT	0.483000														200			98		0	0	0.014410	0	0
C1orf168	199920	broad.mit.edu	37	1	57258448	57258448	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:57258448C>T	uc001cym.4	-	1	444	c.38G>A	c.(37-39)cGa>cAa	p.R13Q	C1orf168_uc009vzu.1_Non-coding_Transcript|C1orf168_uc009vzv.1_Missense_Mutation_p.R13Q	NM_001004303	NP_001004303	Q5VWT5	CA168_HUMAN	Homo sapiens chromosome 1 open reading frame 168 (C1orf168), mRNA.	13										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						AAATTTGGCTCGAAGTTCCTT	0.388000														13			179		0	0	0.014410	0	0
ZNF831	128611	broad.mit.edu	37	20	57766581	57766581	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr20:57766581G>A	uc002yan.3	+	0	507	c.507G>A	c.(505-507)gaG>gaA	p.E169E		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	Homo sapiens zinc finger protein 831 (ZNF831), mRNA.	169						intracellular	nucleic acid binding|zinc ion binding	p.G168C(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					ACACGGGTGAGAGGCCCTTCC	0.612000														65			35		0	0	0.004878	0	0
FAM135B	51059	broad.mit.edu	37	8	139190910	139190910	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr8:139190910G>A	uc003yuy.3	-	9	1068	c.897C>T	c.(895-897)atC>atT	p.I299I	FAM135B_uc003yux.3_Silent_p.I200I|FAM135B_uc003yuz.3_Non-coding_Transcript	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA.	299										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)			TCTGCTCAGCGATCTTCTCTG	0.502000										HNSCC(54;0.14)				28			7		0	0	0.006214	0	0
LIMK2	3985	broad.mit.edu	37	22	31669485	31669485	+	Missense_Mutation	SNP	C	G	G			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr22:31669485C>G	uc003akh.3	+	13	1751	c.1606C>G	c.(1606-1608)Ctc>Gtc	p.L536V	LIMK2_uc003aki.3_Missense_Mutation_p.L290V|LIMK2_uc003akj.3_Missense_Mutation_p.L515V|LIMK2_uc003akk.3_Missense_Mutation_p.L515V|LIMK2_uc011aln.2_Missense_Mutation_p.L453V	NM_005569	NP_005560	P53671	LIMK2_HUMAN	Homo sapiens LIM domain kinase 2 (LIMK2), transcript variant 2a, mRNA.	536	Protein kinase.					mitochondrion|nucleus	ATP binding|protein serine/threonine kinase activity|zinc ion binding			endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1)	29						TGGGATCGTTCTCTGTGAGGT	0.547000											OREG0026477	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		22			27		0	0	0.012213	0	0
LRP2	4036	broad.mit.edu	37	2	169997050	169997050	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:169997050C>T	uc002ues.3	-	71	13327	c.13114G>A	c.(13114-13116)Gaa>Aaa	p.E4372K		NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	4372					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	SH3 domain binding|calcium ion binding|receptor activity			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)	ATAGGCAGTTCGATGGCTGCA	0.547000														19			21		0	0	0.014323	0	0
LRRC18	474354	broad.mit.edu	37	10	50121985	50121985	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr10:50121985G>A	uc001jhd.3	-	0	296	c.216C>T	c.(214-216)ttC>ttT	p.F72F	WDFY4_uc001jha.4_Intron|LRRC18_uc001jhe.1_Silent_p.F72F	NM_001006939	NP_001006940	Q8N456	LRC18_HUMAN	Homo sapiens leucine rich repeat containing 18 (LRRC18), mRNA.	72						cytoplasm				NS(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						GGAGGTTCTGGAACTTGGAGA	0.532000														24			23		0	0	0.003330	0	0
DSCAM	1826	broad.mit.edu	37	21	41684095	41684095	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr21:41684095G>A	uc002yyq.1	-	8	2427	c.1975C>T	c.(1975-1977)Ctc>Ttc	p.L659F	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	659	Ig-like C2-type 7.				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)				ATGAGCGAGAGATTGGAAATC	0.537000														34			45		0	0	0.013114	0	0
PDE8B	8622	broad.mit.edu	37	5	76715632	76715632	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:76715632G>A	uc003kfa.3	+	18	2215	c.2170G>A	c.(2170-2172)Gtt>Att	p.V724I	PDE8B_uc003kfd.3_Missense_Mutation_p.V677I|PDE8B_uc003kfe.3_Missense_Mutation_p.V627I|PDE8B_uc003kfb.3_Missense_Mutation_p.V704I|PDE8B_uc003kfc.3_Missense_Mutation_p.V669I	NM_003719	NP_003710	O95263	PDE8B_HUMAN	Homo sapiens phosphodiesterase 8B (PDE8B), transcript variant 1, mRNA.	724	Catalytic (By similarity).				cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity		GMDS/PDE8B(2)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)		TATTGACATGGTTTTGGCAAC	0.418000														267			261		0	0	0.014410	0	0
SERPINA4	5267	broad.mit.edu	37	14	95033575	95033575	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr14:95033575G>A	uc010avd.3	+	2	1303	c.1029G>A	c.(1027-1029)cgG>cgA	p.R343R	SERPINA4_uc001ydk.3_Silent_p.R306R|SERPINA4_uc001ydl.3_Silent_p.R306R	NM_006215	NP_006206	P29622	KAIN_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4 (SERPINA4), mRNA.	306					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity	p.R306R(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1)	46				COAD - Colon adenocarcinoma(157;0.211)		ACTTGTTGCGGAAGAGGTAAT	0.438000														20			15		0	0	0.004007	0	0
TAB2	23118	broad.mit.edu	37	6	149699485	149699485	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr6:149699485C>T	uc003qmj.3	+	2	612	c.434C>T	c.(433-435)tCc>tTc	p.S145F	TAB2_uc011eec.2_Missense_Mutation_p.S113F|TAB2_uc010kia.1_Missense_Mutation_p.S145F|TAB2_uc010kib.2_Missense_Mutation_p.S145F|TAB2_uc003qmk.4_Non-coding_Transcript	NM_015093	NP_055908	Q9NYJ8	TAB2_HUMAN	Homo sapiens TGF-beta activated kinase 1/MAP3K7 binding protein 2 (TAB2), mRNA.	145					I-kappaB kinase/NF-kappaB cascade|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T cell receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|heart development|innate immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|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						ATGTCCAGTTCCTCTGGTGCT	0.443000														4			31		0	0	0.010818	0	0
OR4Q3	441669	broad.mit.edu	37	14	20215761	20215761	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr14:20215761C>T	uc010tkt.2	+	0	175	c.175C>T	c.(175-177)Cct>Tct	p.P59S		NM_172194	NP_751944	Q8NH05	OR4Q3_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily Q, member 3 (OR4Q3), mRNA.	59					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P59L(1)		NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GCTCCAATCTCCTATGTATTA	0.408000														137			71		0	0	0.014410	0	0
PLXNA4	91584	broad.mit.edu	37	7	131870101	131870101	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:131870101C>T	uc003vra.4	-	15	3344	c.3115G>A	c.(3115-3117)Gac>Aac	p.D1039N		NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA.	1039						integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						ATGGTGGGGTCTTCCACATAC	0.552000														35			65		0	0	0.014410	0	0
NLRP5	126206	broad.mit.edu	37	19	56565005	56565005	+	Splice_Site	SNP	T	C	C			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:56565005T>C	uc002qmj.3	+	13	3129	c.3129_splice	c.e13-1	p.E1043_splice	NLRP5_uc002qmi.3_Splice_Site_p.E1024_splice	NM_153447	NP_703148	P59047	NALP5_HUMAN	Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA.	1043						mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		CTCTTGCAGGTTGGTAAAGTG	0.532000														9			9		0	0	0.006214	0	0
ST18	9705	broad.mit.edu	37	8	53071640	53071640	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr8:53071640G>A	uc003xqz.2	-	9	1780	c.1624C>T	c.(1624-1626)Cct>Tct	p.P542S	ST18_uc011ldq.1_Missense_Mutation_p.P189S|ST18_uc011ldr.1_Missense_Mutation_p.P507S|ST18_uc011lds.1_Missense_Mutation_p.P447S|ST18_uc003xra.2_Missense_Mutation_p.P542S|ST18_uc003xrb.2_Missense_Mutation_p.P542S	NM_014682	NP_055497	O60284	ST18_HUMAN	Homo sapiens suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) (ST18), mRNA.	542						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				AGTCGATTAGGAAATTTCACT	0.438000														45			37		0	0	0.004289	0	0
DCDC5	100506627	broad.mit.edu	37	11	31123807	31123807	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:31123807G>A	uc009yjk.1	-	2	313	c.244C>T	c.(244-246)Cca>Tca	p.P82S	DCDC5_uc009yjl.1_Missense_Mutation_p.P10S|DCDC5_uc001msu.2_Missense_Mutation_p.P253S	NM_020869	NP_065920	Q6ZRR9	DCDC5_HUMAN	Homo sapiens doublecortin domain containing 5 (DCDC5), mRNA.	0	Doublecortin 1.				intracellular signal transduction			p.C82C(1)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(17)|prostate(1)|stomach(1)	31						AAATTAATTGGAAATCCCTCA	0.308000														7			3		0	0	0.004672	0	0
SAG	6295	broad.mit.edu	37	2	234247329	234247329	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:234247329G>A	uc002vuh.2	+	11	1340	c.952G>A	c.(952-954)Gag>Aag	p.E318K	SAG_uc010zmq.1_Missense_Mutation_p.E184K	NM_000541	NP_000532	P10523	ARRS_HUMAN	Homo sapiens S-antigen; retina and pineal gland (arrestin) (SAG), mRNA.	318					rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway		protein phosphatase inhibitor activity			cervix(1)|kidney(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	9		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.018)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.054)		Epithelial(121;2.86e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00608)|Lung(119;0.00714)|GBM - Glioblastoma multiforme(43;0.207)		CAGCATTAAGGAGGGCATAGA	0.567000														47			34		0	0	0.006230	0	0
FBXL13	222235	broad.mit.edu	37	7	102669159	102669159	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:102669159G>A	uc003vaq.2	-	3	532	c.105C>T	c.(103-105)gtC>gtT	p.V35V	FBXL13_uc010lir.1_Silent_p.V35V|FBXL13_uc003var.2_Non-coding_Transcript|FBXL13_uc003vas.2_Silent_p.V35V|FBXL13_uc003vav.2_Intron	NM_145032	NP_659469	Q8NEE6	FXL13_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 13 (FBXL13), transcript variant 1, mRNA.	35										NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1)	27						CAGCCAGGACGACATTTTCAT	0.343000														34			46		0	0	0.014410	0	0
OR1L8	138881	broad.mit.edu	37	9	125330715	125330715	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr9:125330715G>A	uc004bmp.1	-	0	42	c.42C>T	c.(40-42)atC>atT	p.I14I		NM_001004454	NP_001004454	Q8NGR8	OR1L8_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily L, member 8 (OR1L8), mRNA.	14					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						GTCCCAGGAGGATAAACTCGG	0.458000														1			13		0	0	0.002450	0	0
IGSF10	285313	broad.mit.edu	37	3	151154763	151154763	+	Missense_Mutation	SNP	C	T	T	rs146905174		TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:151154763C>T	uc011bod.2	-	5	7586	c.7586G>A	c.(7585-7587)cGa>cAa	p.R2529Q	IGSF10_uc011bob.2_Missense_Mutation_p.R556Q|IGSF10_uc011boc.2_Missense_Mutation_p.R508Q	NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	Homo sapiens immunoglobulin superfamily, member 10 (IGSF10), transcript variant 1, mRNA.	2529	Ig-like C2-type 12.				cell differentiation|multicellular organismal development|ossification	extracellular region		p.R2529Q(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ATTTGTAATTCGGGGAGGGTA	0.478000														49			45		0	0	0.014410	0	0
TRAPPC9	83696	broad.mit.edu	37	8	141461210	141461210	+	Missense_Mutation	SNP	G	A	A	rs139631202	byFrequency	TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr8:141461210G>A	uc003yvh.2	-	1	572	c.557C>T	c.(556-558)tCg>tTg	p.S186L	TRAPPC9_uc003yvj.2_Missense_Mutation_p.S88L|TRAPPC9_uc003yvi.1_Missense_Mutation_p.S88L	NM_031466	NP_001153844	Q96Q05	TPPC9_HUMAN	Homo sapiens trafficking protein particle complex 9 (TRAPPC9), transcript variant 1, mRNA.	88					cell differentiation	Golgi apparatus|endoplasmic reticulum				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						GTCCTTGGCCGAGAAGCAGTC	0.577000														39			19		0	0	0.014323	0	0
C12orf35	55196	broad.mit.edu	37	12	32135303	32135303	+	Missense_Mutation	SNP	G	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:32135303G>T	uc001rks.3	+	3	1828	c.1414G>T	c.(1414-1416)Gta>Tta	p.V472L		NM_018169	NP_060639	Q9HCM1	CL035_HUMAN	Homo sapiens chromosome 12 open reading frame 35 (C12orf35), mRNA.	472										NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	59	all_cancers(9;3.36e-11)|all_epithelial(9;2.56e-11)|all_lung(12;5.67e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0336)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0114)			AACACCAACAGTAGTGGAATC	0.383000														53			36		9.04072e-19	1.2271e-18	0.003271	1	0
RYR1	6261	broad.mit.edu	37	19	38951133	38951133	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:38951133G>A	uc002oit.3	+	19	2609	c.2479G>A	c.(2479-2481)Gag>Aag	p.E827K	RYR1_uc002oiu.3_Missense_Mutation_p.E827K	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	827					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	ACCCATCAAGGAGTATCGACG	0.637000														53			32		0	0	0.012213	0	0
TACR2	6865	broad.mit.edu	37	10	71174875	71174875	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr10:71174875G>A	uc001jpn.2	-	1	1008	c.413C>T	c.(412-414)cCc>cTc	p.P138L		NM_001057	NP_001048	P21452	NK2R_HUMAN	Homo sapiens tachykinin receptor 2 (TACR2), mRNA.	138					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)	AGGCTGGAAGGGGTGGACGAT	0.637000														23			17		0	0	0.008871	0	0
UCK2	7371	broad.mit.edu	37	1	165859599	165859599	+	Splice_Site	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:165859599G>A	uc001gdp.3	+	2	598	c.259_splice	c.e2+1	p.D87_splice	UCK2_uc010plb.2_Splice_Site	NM_012474	NP_036606	Q9BZX2	UCK2_HUMAN	Homo sapiens uridine-cytidine kinase 2 (UCK2), mRNA.	87					pyrimidine base metabolic process|pyrimidine nucleoside salvage	cytosol	ATP binding|phosphotransferase activity, alcohol group as acceptor|uridine kinase activity			breast(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	10	all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155)					TTGACCACCCGGGTGAGTCGG	0.507000														3			57		0	0	0.014410	0	0
SLC7A8	23428	broad.mit.edu	37	14	23634518	23634518	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr14:23634518G>A	uc001wiz.3	-	2	1210	c.484C>T	c.(484-486)Cgg>Tgg	p.R162W	SLC7A8_uc010akj.3_Missense_Mutation_p.R162W	NM_012244	NP_877392	Q9UHI5	LAT2_HUMAN	Homo sapiens solute carrier family 7 (amino acid transporter light chain, L system), member 8 (SLC7A8), transcript variant 1, mRNA.	162					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)	GCCAGGAGCCGAAGGCCAGAC	0.498000														17			11		0	0	0.010729	0	0
GPRIN1	114787	broad.mit.edu	37	5	176025208	176025208	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:176025208G>A	uc003meo.1	-	1	1803	c.1628C>T	c.(1627-1629)gCc>gTc	p.A543V	GPRIN1_uc021yif.1_Missense_Mutation_p.A543V	NM_052899	NP_443131	Q7Z2K8	GRIN1_HUMAN	Homo sapiens G protein regulated inducer of neurite outgrowth 1 (GPRIN1), mRNA.	543						growth cone|plasma membrane				NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GAGGGGCTCGGCCTTCCCTGA	0.637000														27			16		0	0	0.006122	0	0
ALDH1A2	8854	broad.mit.edu	37	15	58306061	58306061	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr15:58306061G>A	uc002aex.3	-	2	631	c.358C>T	c.(358-360)Ctt>Ttt	p.L120F	ALDH1A2_uc010ugv.2_Missense_Mutation_p.L99F|ALDH1A2_uc002aey.3_Missense_Mutation_p.L120F|ALDH1A2_uc010ugw.2_Missense_Mutation_p.L91F|ALDH1A2_uc002aew.3_Missense_Mutation_p.L24F	NM_003888	NP_733798	O94788	AL1A2_HUMAN	Homo sapiens aldehyde dehydrogenase 1 family, member A2 (ALDH1A2), transcript variant 1, mRNA.	120					negative regulation of cell proliferation|neural tube development|response to cytokine stimulus	nucleus	3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)	CTTACTGCAAGAACTGCCCTG	0.403000														171			146		0	0	0.014410	0	0
GUCY2F	2986	broad.mit.edu	37	X	108631727	108631727	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:108631727G>A	uc022cch.1	-	13	3032	c.2947C>T	c.(2947-2949)Ctt>Ttt	p.L983F	GUCY2F_uc011msq.2_Non-coding_Transcript|GUCY2F_uc004eod.4_Missense_Mutation_p.L983F	NM_001522	NP_001513	P51841	GUC2F_HUMAN	Homo sapiens guanylate cyclase 2F, retinal (GUCY2F), mRNA.	983	Guanylate cyclase.				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						CCTGAGTGAAGGCCAATTCGA	0.453000														101			78		0	0	0.014410	0	0
RORB	6096	broad.mit.edu	37	9	77300446	77300446	+	Missense_Mutation	SNP	A	G	G			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr9:77300446A>G	uc004aji.3	+	9	1374	c.1325A>G	c.(1324-1326)aAg>aGg	p.K442R	RORB_uc004ajh.3_Missense_Mutation_p.K431R	NM_006914	NP_008845	Q92753	RORB_HUMAN	Homo sapiens RAR-related orphan receptor B (RORB), mRNA.	442	Ligand-binding (Potential).				eye photoreceptor cell development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	12						CAGGTATTTAAGCAATCTCAT	0.478000														4			49		0	0	0.014410	0	0
CPA5	93979	broad.mit.edu	37	7	130002769	130002769	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:130002769G>A	uc010lmd.1	+	9	1301	c.681G>A	c.(679-681)ctG>ctA	p.L227L	CPA5_uc003vps.2_Silent_p.L227L|CPA5_uc003vpt.2_Silent_p.L227L|CPA5_uc010lme.1_Silent_p.L227L|CPA5_uc003vpu.1_Silent_p.L227L	NM_001127441	NP_525124	Q8WXQ8	CBPA5_HUMAN	Homo sapiens carboxypeptidase A5 (CPA5), transcript variant 2, mRNA.	227					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			NS(2)|breast(2)|endometrium(2)|large_intestine(7)|lung(4)|ovary(3)|pancreas(1)|skin(2)	23	Melanoma(18;0.0435)					CAGACATACTGAATGCCATGG	0.532000														45			26		0	0	0.006320	0	0
OR10AG1	282770	broad.mit.edu	37	11	55735759	55735759	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:55735759C>T	uc010rit.2	-	0	181	c.181G>A	c.(181-183)Gaa>Aaa	p.E61K		NM_001005491	NP_001005491	Q8NH19	O10AG_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily AG, member 1 (OR10AG1), mRNA.	61					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40	Esophageal squamous(21;0.0137)					TAACAGATTTCCAAAAGGGAA	0.353000														42			34		0	0	0.005524	0	0
NOTCH4	4855	broad.mit.edu	37	6	32169986	32169987	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr6:32169986_32169987GG>AA	uc003obb.3	-	20	3760_3761	c.3621_3622CC>TT	c.(3619-3624)gtccca>gtTTca	p.P1208S	NOTCH4_uc003oba.3_5'UTR|NOTCH4_uc011dpu.2_Intron|NOTCH4_uc011dpv.2_Intron	NM_004557	NP_004548	Q99466	NOTC4_HUMAN	Homo sapiens notch 4 (NOTCH4), mRNA.	1208					Notch receptor processing|Notch signaling pathway|cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						CAGGGGTCTGGGACTCCCAGAG	0.639000														111			182		0	0	0.004672	0	0
ADH4	127	broad.mit.edu	37	4	100052668	100052668	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr4:100052668C>T	uc003hun.3	-	5	906	c.830G>A	c.(829-831)gGa>gAa	p.G277E	LOC100507053_uc003hum.2_Intron|ADH4_uc011ced.2_Missense_Mutation_p.G296E	NM_000670	NP_000661	P08319	ADH4_HUMAN	Homo sapiens alcohol dehydrogenase 4 (class II), pi polypeptide (ADH4), mRNA.	277					alcohol catabolic process|cellular aldehyde metabolic process|ethanol oxidation|quinone cofactor metabolic process|retinol metabolic process|xenobiotic metabolic process	cytosol|microtubule cytoskeleton	NAD binding|NADPH:quinone reductase activity|alcohol dehydrogenase activity, zinc-dependent|all-trans retinal binding|benzaldehyde dehydrogenase activity|retinol binding|retinol dehydrogenase activity|zinc ion binding			NS(1)|cervix(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)|skin(2)	18				OV - Ovarian serous cystadenocarcinoma(123;4.48e-08)	NADH(DB00157)	GGTTTCAGATCCACCTGCACA	0.383000														23			16		0	0	0.004990	0	0
TCF4	6925	broad.mit.edu	37	18	53018134	53018134	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr18:53018134C>T	uc002lga.3	-	7	836	c.776G>A	c.(775-777)cGa>cAa	p.R259Q	TCF4_uc010xdu.1_Missense_Mutation_p.R27Q|TCF4_uc010xdv.1_Missense_Mutation_p.R27Q|TCF4_uc021uki.1_Missense_Mutation_p.R86Q|TCF4_uc002lfx.2_Missense_Mutation_p.R86Q|TCF4_uc010xdw.1_Missense_Mutation_p.R27Q|TCF4_uc002lfy.2_Missense_Mutation_p.R115Q|TCF4_uc010xdx.1_Missense_Mutation_p.R133Q|TCF4_uc021ukj.1_Intron|TCF4_uc021ukk.1_Intron|TCF4_uc021ukl.1_Missense_Mutation_p.R155Q|TCF4_uc002lfz.2_Missense_Mutation_p.R157Q|TCF4_uc010dph.1_Missense_Mutation_p.R157Q|TCF4_uc010dpi.3_Missense_Mutation_p.R157Q|TCF4_uc010xdy.1_Missense_Mutation_p.R133Q|TCF4_uc002lgc.4_Missense_Mutation_p.R78Q|TCF4_uc021ukm.1_Missense_Mutation_p.E42K	NM_001243226	NP_001230155	P15884	ITF2_HUMAN	Homo sapiens transcription factor 4 (TCF4), transcript variant 3, mRNA.	157					positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter	transcription factor complex	E-box binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding|protein C-terminus binding|protein heterodimerization activity|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		AGGCCTCCTTCGGGGATTATT	0.448000														26			36		0	0	0.008740	0	0
PKHD1	5314	broad.mit.edu	37	6	51524449	51524449	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr6:51524449G>A	uc003pah.1	-	60	10751	c.10475C>T	c.(10474-10476)tCc>tTc	p.S3492F		NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	3492					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	p.S3492A(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GAGAAGCTTGGAGGTACTTTT	0.443000														24			26		0	0	0.004656	0	0
FAM5C	339479	broad.mit.edu	37	1	190067595	190067595	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:190067595C>T	uc001gse.1	-	7	2086	c.1854G>A	c.(1852-1854)tgG>tgA	p.W618*	FAM5C_uc010pot.1_Nonsense_Mutation_p.W516*	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	Homo sapiens family with sequence similarity 5, member C (FAM5C), mRNA.	618						extracellular region		p.W618C(2)		NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					AAAATGTCTTCCATTTGTTCC	0.433000														25			485		0	0	0.014410	0	0
ATP11C	286410	broad.mit.edu	37	X	138840015	138840015	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:138840015G>A	uc004faz.3	-	22	2760	c.2661C>T	c.(2659-2661)ttC>ttT	p.F887F	ATP11C_uc004fax.3_Silent_p.F95F|ATP11C_uc004fay.3_Non-coding_Transcript|ATP11C_uc004fba.3_Silent_p.F887F	NM_173694	NP_775965	Q8NB49	AT11C_HUMAN	Homo sapiens ATPase, class VI, type 11C (ATP11C), transcript variant 1, mRNA.	887					ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					GTGGCAAAATGAAACAAAGGT	0.279000														17			14		0	0	0.004990	0	0
LCT	3938	broad.mit.edu	37	2	136566641	136566641	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:136566641C>T	uc002tuu.1	-	7	3287	c.3276G>A	c.(3274-3276)agG>agA	p.R1092R		NM_002299	NP_002290	P09848	LPH_HUMAN	Homo sapiens lactase (LCT), mRNA.	1092	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		CGTGGGCTATCCTATATGGTG	0.537000														29			26		0	0	0.004656	0	0
HMGXB4	10042	broad.mit.edu	37	22	35661066	35661066	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr22:35661066C>T	uc003anl.3	+	4	859	c.685C>T	c.(685-687)Cgg>Tgg	p.R229W	HMGXB4_uc011amh.1_Missense_Mutation_p.R120W|HMGXB4_uc003ank.3_Missense_Mutation_p.R120W	NM_001003681	NP_001003681	Q9UGU5	HMGX4_HUMAN	Homo sapiens HMG box domain containing 4 (HMGXB4), transcript variant 1, mRNA.	229					Wnt receptor signaling pathway|endosome to lysosome transport|negative regulation of Wnt receptor signaling pathway	NURF complex	DNA binding	p.R229W(2)		breast(1)|endometrium(1)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GAAATCAGCTCGGGATGAGCA	0.468000														75			63		0	0	0.014410	0	0
MYH2	4620	broad.mit.edu	37	17	10431131	10431131	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr17:10431131C>T	uc010coi.3	-	27	3933	c.3805G>A	c.(3805-3807)Gaa>Aaa	p.E1269K	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Missense_Mutation_p.E1269K|MYH2_uc010coj.3_Intron	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.	1269					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TGCTCCTCTTCCTTTGATTTC	0.488000														55			47		0	0	0.014410	0	0
ANXA2	302	broad.mit.edu	37	9	33624580	33624580	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr9:33624580G>A	uc010mjx.3	+	0	358	c.309G>A	c.(307-309)ttG>ttA	p.L103L	DJ439583_uc022bfp.1_5'Flank|DJ439557_uc022bfq.1_5'Flank	NM_004039	NP_004030	P07355	ANXA2_HUMAN	Homo sapiens annexin A2 (ANXA2), transcript variant 3, mRNA.	103					angiogenesis|positive regulation of vesicle fusion|skeletal system development	basement membrane|melanosome|midbody|soluble fraction	calcium ion binding|calcium-dependent phospholipid binding|cytoskeletal protein binding|phospholipase inhibitor activity			kidney(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)	9					Alteplase(DB00009)|Anistreplase(DB00029)|Tenecteplase(DB00031)	TGGGCCTATTGAAGACACCTG	0.488000											OREG0019140	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		36			39		0	0	0.014410	0	0
SATB1	6304	broad.mit.edu	37	3	18390985	18390985	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:18390985C>T	uc003cbh.3	-	10	3704	c.1969G>A	c.(1969-1971)Gga>Aga	p.G657R	SATB1_uc003cbi.3_Missense_Mutation_p.G689R|SATB1_uc003cbj.3_Missense_Mutation_p.G657R	NM_002971	NP_002962	Q01826	SATB1_HUMAN	Homo sapiens SATB homeobox 1 (SATB1), transcript variant 1, mRNA.	657					cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter	PML body|nuclear matrix	double-stranded DNA binding|sequence-specific DNA binding	p.L656F(1)		NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						TGGAGGATTCCCAAGGCTTCC	0.562000														44			52		0	0	0.014410	0	0
OR10H3	26532	broad.mit.edu	37	19	15853087	15853087	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:15853087G>A	uc010xoq.2	+	0	885	c.885G>A	c.(883-885)agG>agA	p.R295R		NM_013938	NP_039226	O60404	O10H3_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily H, member 3 (OR10H3), mRNA.	295					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						TCAGTCTAAGGAACAAGGAGC	0.438000														82			70		0	0	0.014410	0	0
AHNAK	79026	broad.mit.edu	37	11	62301352	62301352	+	Missense_Mutation	SNP	T	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:62301352T>A	uc001ntl.3	-	4	837	c.537A>T	c.(535-537)gaA>gaT	p.E179D	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.	179					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TGATCTTGAATTCAGGGCTAC	0.542000														45			48		0	0	0.014410	0	0
TCEB3C	162699	broad.mit.edu	37	18	44549182	44549182	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr18:44549182C>T	uc021ujl.1	-	0	1353	c.1117G>A	c.(1117-1119)Gat>Aat	p.D373N	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.3_Intron	NM_145653	NP_001094287	Q8NG57	ELOA3_HUMAN	Homo sapiens transcription elongation factor B polypeptide 3C (elongin A3) (TCEB3C), mRNA.	373	Activation domain (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	DNA binding	p.P372P(1)		NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2)	30						TACGGCTGATCGGGCGTCCAC	0.582000														169			37		0	0	0.014410	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140755352	140755352	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:140755352C>T	uc003ljy.2	+	0	1702	c.1702C>T	c.(1702-1704)Ccc>Tcc	p.P568S	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc011dau.2_Missense_Mutation_p.P568S	NM_018919	NP_061742	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 6 (PCDHGA6), transcript variant 1, mRNA.	570					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCCGCCCTCCCCACAGACGG	0.657000														94			66		0	0	0.014410	0	0
ASTN2	23245	broad.mit.edu	37	9	119188357	119188357	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr9:119188357G>A	uc004bjt.2	-	21	3741	c.3640C>T	c.(3640-3642)Ctg>Ttg	p.L1214L	ASTN2_uc022bml.1_Silent_p.L910L|ASTN2_uc022bmm.1_Silent_p.L914L|ASTN2_uc004bjp.2_Silent_p.L366L|ASTN2_uc011lxr.2_Silent_p.L317L|ASTN2_uc011lxs.2_Silent_p.L317L|ASTN2_uc011lxt.2_Silent_p.L317L|ASTN2_uc004bjq.2_Silent_p.L317L	NM_014010	NP_054729	O75129	ASTN2_HUMAN	Homo sapiens astrotactin 2 (ASTN2), transcript variant 1, mRNA.	1265						integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						CGTAGAATCAGGTGGGCCTTC	0.498000														3			20		0	0	0.003330	0	0
KCNIP1	30820	broad.mit.edu	37	5	169780940	169780940	+	Silent	SNP	T	C	C			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:169780940T>C	uc003map.3	+	0	60	c.60T>C	c.(58-60)ttT>ttC	p.F20F		NM_001034838	NP_001030010	Q9NZI2	KCIP1_HUMAN	Homo sapiens Kv channel interacting protein 1 (KCNIP1), transcript variant 3, mRNA.	0					detection of calcium ion|signal transduction|synaptic transmission	plasma membrane	potassium channel activity|voltage-gated ion channel activity			autonomic_ganglia(1)|large_intestine(7)|lung(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	18	Renal(175;0.000159)|Lung NSC(126;0.0191)|all_lung(126;0.0297)	Medulloblastoma(196;0.0109)|all_neural(177;0.0177)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGACCATCTTTAAGCTCATCA	0.552000														30			4		0	0	0.009096	0	0
SCN2A	6326	broad.mit.edu	37	2	166245378	166245378	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:166245378G>A	uc002udc.3	+	26	5352	c.5062G>A	c.(5062-5064)Gaa>Aaa	p.E1688K	SCN2A_uc002udd.3_Missense_Mutation_p.E1688K|SCN2A_uc002ude.3_Missense_Mutation_p.E1688K|SCN2A_uc021vry.1_Missense_Mutation_p.E188K	NM_001040142	NP_066287	Q99250	SCN2A_HUMAN	Homo sapiens sodium channel, voltage-gated, type II, alpha subunit (SCN2A), transcript variant 2, mRNA.	1688					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.R1687M(1)		NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	TGTTAAGAGGGAAGTTGGGAT	0.468000														92			76		0	0	0.014410	0	0
LRRC10	376132	broad.mit.edu	37	12	70004284	70004284	+	Missense_Mutation	SNP	T	G	G			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:70004284T>G	uc001svc.3	-	0	659	c.335A>C	c.(334-336)gAc>gCc	p.D112A		NM_201550	NP_963844	Q5BKY1	LRC10_HUMAN	Homo sapiens leucine rich repeat containing 10 (LRRC10), mRNA.	112						nucleus				large_intestine(2)|lung(6)	8	all_cancers(2;2.83e-105)|Breast(13;9.83e-07)|Esophageal squamous(21;0.187)		Epithelial(6;1.98e-18)|GBM - Glioblastoma multiforme(2;7.43e-12)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			ACTGGGGAGGTCGCAGAGTTT	0.572000														28			29		0	0	0.010818	0	0
SP110	3431	broad.mit.edu	37	2	231036436	231036436	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:231036436G>A	uc002vqg.3	-	16	2103	c.1863C>T	c.(1861-1863)tcC>tcT	p.S621S	SP110_uc002vqh.3_Intron	NM_080424	NP_536349	Q9HB58	SP110_HUMAN	Homo sapiens SP110 nuclear body protein (SP110), transcript variant c, mRNA.	605	Bromo.				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|signal transducer activity|zinc ion binding			breast(4)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169)		Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097)		CCGTAAAAAAGGAGCTTTGTG	0.428000														19			23		0	0	0.007291	0	0
ODZ1	10178	broad.mit.edu	37	X	124029937	124029937	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:124029937C>T	uc010nqy.3	-	1	435	c.371G>A	c.(370-372)tGg>tAg	p.W124*	ODZ1_uc011muj.2_Nonsense_Mutation_p.W124*|ODZ1_uc004euj.3_Nonsense_Mutation_p.W124*	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA.	124	Teneurin N-terminal.				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			NS(4)|breast(7)|cervix(3)|endometrium(23)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(36)|liver(1)|lung(93)|ovary(13)|pancreas(3)|prostate(2)|skin(10)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	212						TCCCCTTATCCACATTCTTAG	0.502000														133			214		0	0	0.014410	0	0
TMEM217	221468	broad.mit.edu	37	6	37186304	37186304	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr6:37186304C>T	uc003onl.3	-	1	584	c.503G>A	c.(502-504)cGa>cAa	p.R168Q	TMEM217_uc010jwr.3_Missense_Mutation_p.R168Q|TMEM217_uc010jws.3_Intron|TMEM217_uc003onm.4_Missense_Mutation_p.R168Q	NM_145316	NP_660359	Q8N7C4	TM217_HUMAN	Homo sapiens transmembrane protein 217 (TMEM217), transcript variant 1, mRNA.	168						integral to membrane		p.R168P(2)		endometrium(2)|kidney(1)|large_intestine(5)|lung(1)	9						TGTAGAAATTCGTCTCTTGTA	0.438000														112			47		0	0	0.013114	0	0
ITGAX	3687	broad.mit.edu	37	16	31374287	31374287	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr16:31374287C>T	uc002ebt.3	+	12	1458	c.1391C>T	c.(1390-1392)tCc>tTc	p.S464F	ITGAX_uc002ebu.1_Missense_Mutation_p.S464F|ITGAX_uc010vfk.1_Missense_Mutation_p.S114F	NM_000887	NP_000878	P20702	ITAX_HUMAN	Homo sapiens integrin, alpha X (complement component 3 receptor 4 subunit) (ITGAX), mRNA.	464					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						TCCCTCTGCTCCGTGGACGTA	0.667000														44			28		0	0	0.003271	0	0
ALKBH8	91801	broad.mit.edu	37	11	107431577	107431577	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:107431577C>T	uc010rvr.2	-	1	118	c.43G>A	c.(43-45)Gag>Aag	p.E15K	ALKBH8_uc009yxp.3_Missense_Mutation_p.E15K|ALKBH8_uc001pjl.3_Non-coding_Transcript	NM_138775	NP_620130	Q96BT7	ALKB8_HUMAN	Homo sapiens alkB, alkylation repair homolog 8 (E. coli) (ALKBH8), mRNA.	15					response to DNA damage stimulus	cytosol|nucleus	RNA binding|metal ion binding|nucleotide binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|protein binding|tRNA (uracil) methyltransferase activity			breast(2)|large_intestine(2)|lung(5)	9		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00512)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.53e-05)|Epithelial(105;0.00029)|all cancers(92;0.00518)		AACTTCTTCTCAGTTTTACTG	0.373000														1			19		0	0	0.007413	0	0
OR2L3	391192	broad.mit.edu	37	1	248224664	248224664	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:248224664G>A	uc001idx.1	+	0	681	c.681G>A	c.(679-681)atG>atA	p.M227I	OR2L13_uc001ids.3_Intron	NM_001004687	NP_001004687	Q8NG85	OR2L3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily L, member 3 (OR2L3), mRNA.	227					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			TCTACCACATGAAATCTGCAG	0.468000														8			285		0	0	0.014410	0	0
STK31	56164	broad.mit.edu	37	7	23854762	23854762	+	Splice_Site	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:23854762G>A	uc003sws.4	+	23	2828	c.2761_splice	c.e23-1	p.L921_splice	STK31_uc003swt.4_Splice_Site_p.L898_splice|STK31_uc011jze.2_Intron|STK31_uc010kuq.3_Splice_Site_p.L898_splice|STK31_uc003swv.1_Splice_Site_p.L87_splice	NM_031414	NP_116562	Q9BXU1	STK31_HUMAN	Homo sapiens serine/threonine kinase 31 (STK31), transcript variant 1, mRNA.	921	Protein kinase.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TTCTTTCACAGCTTTCTGTTC	0.358000														39			26		0	0	0.003954	0	0
TTN	7273	broad.mit.edu	37	2	179449136	179449136	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:179449136G>A	uc021vsy.1	-	259	57663	c.57438C>T	c.(57436-57438)gtC>gtT	p.V19146V	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.V12841V|TTN_uc021vta.1_Silent_p.V12774V|TTN_uc021vtb.1_Silent_p.V12649V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	20073	Ig-like 108.						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)			CAGTTGACCGGACAAGAGTAT	0.458000														54			34		0	0	0.004878	0	0
GRM3	2913	broad.mit.edu	37	7	86415776	86415776	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:86415776G>A	uc003uid.3	+	2	1767	c.668G>A	c.(667-669)gGg>gAg	p.G223E	GRM3_uc010lef.3_Missense_Mutation_p.G221E|GRM3_uc010leg.3_Missense_Mutation_p.G95E|GRM3_uc010leh.3_Intron	NM_000840	NP_000831	Q14832	GRM3_HUMAN	Homo sapiens glutamate receptor, metabotropic 3 (GRM3), mRNA.	223					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	GGTGATTACGGGGAGACAGGG	0.612000														60			20		0	0	0.012319	0	0
IKZF1	10320	broad.mit.edu	37	7	50450371	50450371	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:50450371G>A	uc003tow.4	+	4	710	c.555G>A	c.(553-555)agG>agA	p.R185R	IKZF1_uc022acq.1_Intron|IKZF1_uc003tpa.4_Intron|IKZF1_uc022acr.1_Intron|IKZF1_uc022acs.1_Intron|IKZF1_uc022act.1_Silent_p.R98R|IKZF1_uc022acu.1_Silent_p.R98R|IKZF1_uc003tox.4_Silent_p.R185R|IKZF1_uc022acv.1_Silent_p.R98R|IKZF1_uc022acw.1_Silent_p.R98R|IKZF1_uc022acx.1_Silent_p.R185R|IKZF1_uc022acy.1_Intron|IKZF1_uc022acz.1_Intron|IKZF1_uc011kck.2_Silent_p.R98R|IKZF1_uc003toy.4_Silent_p.R185R|IKZF1_uc003toz.4_Silent_p.R155R|IKZF1_uc010kyx.3_Intron	NM_006060	NP_006051	Q13422	IKZF1_HUMAN	Homo sapiens IKAROS family zinc finger 1 (Ikaros) (IKZF1), transcript variant 1, mRNA.	185	Required for both high-affinity DNA binding and pericentromeric heterochromatin localization (By similarity).				cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	p.?(131)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				GCCGCCGGAGGGACGCCCTCA	0.652000			"""D,T"""	BCL6	"""ALL, DLBCL"""									16			6		0	0	0.003080	0	0
PRAMEF11	440560	broad.mit.edu	37	1	12887231	12887231	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:12887231G>A	uc001auk.2	-	2	822	c.626C>T	c.(625-627)tCc>tTc	p.S209F		NM_001146344	NP_001139816	O60813	PRA11_HUMAN	Homo sapiens PRAME family member 11 (PRAMEF11), mRNA.	209										NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						CTGCTCTGGGGAAACGTAGCG	0.493000														20			189		0	0	0.014410	0	0
GGT7	2686	broad.mit.edu	37	20	33440060	33440060	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr20:33440060G>A	uc002xay.3	-	11	1528	c.1485C>T	c.(1483-1485)ccC>ccT	p.P495P	GGT7_uc010gex.3_5'Flank|GGT7_uc002xaz.1_Silent_p.P512P	NM_178026	NP_821158	Q9UJ14	GGT7_HUMAN	Homo sapiens gamma-glutamyltransferase 7 (GGT7), mRNA.	495					glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity			NS(2)|breast(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	20						CGCTGCCAAAGGGCTGGTTCA	0.652000														21			17		0	0	0.010504	0	0
ADCY9	115	broad.mit.edu	37	16	4164547	4164547	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr16:4164547G>A	uc002cvx.3	-	1	1436	c.897C>T	c.(895-897)ttC>ttT	p.F299F		NM_001116	NP_001107	O60503	ADCY9_HUMAN	Homo sapiens adenylate cyclase 9 (ADCY9), mRNA.	299					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	ATP binding|adenylate cyclase activity|metal ion binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						GGGACATGACGAACAGGTGGA	0.632000														20			29		0	0	0.007291	0	0
LONRF3	79836	broad.mit.edu	37	X	118151559	118151559	+	Missense_Mutation	SNP	G	A	A	rs143959775		TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:118151559G>A	uc004eqw.3	+	10	2217	c.2186G>A	c.(2185-2187)cGa>cAa	p.R729Q	LONRF3_uc004eqx.3_Missense_Mutation_p.R688Q|LONRF3_uc004eqy.3_Non-coding_Transcript|LONRF3_uc004eqz.3_Missense_Mutation_p.R473Q	NM_001031855	NP_001027026	Q496Y0	LONF3_HUMAN	Homo sapiens LON peptidase N-terminal domain and ring finger 3 (LONRF3), transcript variant 1, mRNA.	729	Lon.				proteolysis		ATP-dependent peptidase activity|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	36						TTGGAAAGCCGAGCTCAGCTC	0.502000														73			61		0	0	0.014410	0	0
RGNEF	64283	broad.mit.edu	37	5	73168939	73168939	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:73168939C>T	uc010izf.3	+	21	2858	c.2682C>T	c.(2680-2682)ttC>ttT	p.F894F	RGNEF_uc011csq.2_Silent_p.F894F|RGNEF_uc021yam.1_Silent_p.F894F|RGNEF_uc011csr.2_Silent_p.F581F	NM_001080479	NP_001073948	Q8N1W1	RGNEF_HUMAN	Homo sapiens 190 kDa guanine nucleotide exchange factor (RGNEF), transcript variant 1, mRNA.	894	DH.				cell differentiation|intracellular signal transduction|regulation of Rho protein signal transduction	cytoplasm|plasma membrane	RNA binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding						Lung NSC(167;0.0378)|all_lung(232;0.04)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.25e-51)		ATAAAATTTTCCCCTGTTTAG	0.468000														10			8		0	0	0.003080	0	0
YSK4	80122	broad.mit.edu	37	2	135738810	135738810	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:135738810C>T	uc002tue.1	-	8	3532	c.3501G>A	c.(3499-3501)acG>acA	p.T1167T	YSK4_uc002tuf.1_Silent_p.T349T|YSK4_uc010fnc.1_Silent_p.T301T|YSK4_uc010fnd.1_Silent_p.T1054T|YSK4_uc010zbg.1_Silent_p.T299T|YSK4_uc021vpz.1_Silent_p.T28T|YSK4_uc002tuh.4_Silent_p.T895T|YSK4_uc002tui.4_3'UTR	NM_025052	NP_079328	Q56UN5	YSK4_HUMAN	Homo sapiens YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae) (YSK4), transcript variant 1, mRNA.	1167	Protein kinase.						ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(221;0.112)		GTATTTGTTTCGTATATTTAC	0.388000														50			41		0	0	0.014410	0	0
ARHGAP4	393	broad.mit.edu	37	X	153186550	153186550	+	Splice_Site	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:153186550C>T	uc004fjk.2	-	4	556	c.498_splice	c.e4+1	p.T166_splice	ARHGAP4_uc011mzf.2_Splice_Site_p.T143_splice|ARHGAP4_uc004fjl.2_Splice_Site_p.T166_splice|ARHGAP4_uc010nup.2_Splice_Site	NM_001666	NP_001657	P98171	RHG04_HUMAN	Homo sapiens Rho GTPase activating protein 4 (ARHGAP4), transcript variant 2, mRNA.	166					Rho protein signal transduction|apoptosis|cytoskeleton organization|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway	cytosol|focal adhesion|nucleus	Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	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)					CTTTCCTCACCGTCTGGAGCT	0.632000														1			9		0	0	0.010729	0	0
PRPH	5630	broad.mit.edu	37	12	49690308	49690308	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:49690308G>A	uc001rtu.3	+	2	775	c.700G>A	c.(700-702)Gag>Aag	p.E234K		NM_006262	NP_006253	P41219	PERI_HUMAN	Homo sapiens peripherin (PRPH), mRNA.	234	Coil 1B.|Rod.						structural molecule activity			kidney(1)|large_intestine(2)|lung(8)|skin(1)	12						GCTGCACGAGGAGGTAAGTGG	0.607000											OREG0021790	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		17			13		0	0	0.003163	0	0
HLA-DQA2	3118	broad.mit.edu	37	6	32713654	32713654	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr6:32713654C>T	uc003obx.3	+	2	476	c.418C>T	c.(418-420)Cct>Tct	p.P140S		NM_020056	NP_064440	P01906	DQA2_HUMAN	Homo sapiens major histocompatibility complex, class II, DQ alpha 2 (HLA-DQA2), mRNA.	140	Alpha-2.|Ig-like C1-type.				T cell costimulation|T cell receptor signaling pathway|antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway	Golgi apparatus|MHC class II protein complex|endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane|lysosomal membrane	MHC class II receptor activity			endometrium(2)|large_intestine(3)|lung(7)|skin(1)	13					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CAACATCTTTCCTCCTGTGGT	0.502000														170			11		0	0	0.003163	0	0
CHRM2	1129	broad.mit.edu	37	7	136700939	136700939	+	Missense_Mutation	SNP	T	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:136700939T>A	uc003vtf.1	+	3	1950	c.1327T>A	c.(1327-1329)Tgc>Agc	p.C443S	CHRM2_uc003vtg.1_Missense_Mutation_p.C443S|CHRM2_uc003vti.1_Missense_Mutation_p.C443S|CHRM2_uc003vtm.1_Missense_Mutation_p.C443S|CHRM2_uc003vtj.1_Missense_Mutation_p.C443S|CHRM2_uc003vtk.1_Missense_Mutation_p.C443S|CHRM2_uc003vtl.1_Missense_Mutation_p.C443S|CHRM2_uc003vtn.1_Missense_Mutation_p.C443S|CHRM2_uc003vto.1_Missense_Mutation_p.C443S|AK097470_uc003vtp.1_Intron|CHRM2_uc022ame.1_Missense_Mutation_p.C443S	NM_001006630	NP_001006633	P08172	ACM2_HUMAN	Homo sapiens cholinergic receptor, muscarinic 2 (CHRM2), transcript variant 1, mRNA.	443					G-protein signaling, coupled to cAMP nucleotide second messenger|activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding	p.L442fs*19(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)	CTATGCACTTTGCAATGCCAC	0.413000														99			50		0	0	0.014410	0	0
CACNA1F	778	broad.mit.edu	37	X	49061740	49061740	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:49061740G>A	uc004dnb.3	-	47	5853	c.5791C>T	c.(5791-5793)Ctg>Ttg	p.L1931L	CACNA1F_uc010nip.3_Silent_p.L1920L	NM_005183	NP_005174	O60840	CAC1F_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1F subunit (CACNA1F), mRNA.	1931					axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	p.R1930C(1)		autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Verapamil(DB00661)	TCCAGCGTCAGGCGACACGCA	0.597000														12			8		0	0	0.004482	0	0
CSF2RB	1439	broad.mit.edu	37	22	37334429	37334430	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr22:37334429_37334430CC>TT	uc003aqa.4	+	13	2796_2797	c.2579_2580CC>TT	c.(2578-2580)ccc>cTT	p.P860L	CSF2RB_uc003aqc.4_Missense_Mutation_p.P866L	NM_000395	NP_000386	P32927	IL3RB_HUMAN	Homo sapiens colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage) (CSF2RB), mRNA.	860					respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	GTCAAGAAGCCCCCAGGCCAGG	0.619000														71			66		0	0	0.004672	0	0
RBM45	129831	broad.mit.edu	37	2	178990712	178990712	+	Splice_Site	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:178990712C>T	uc002ulv.3	+	9	1325	c.1233_splice	c.e9-1	p.C411_splice		NM_152945	NP_694453	Q8IUH3	RBM45_HUMAN	Homo sapiens RNA binding motif protein 45 (RBM45), mRNA.	413	RRM 3.				cell differentiation|nervous system development	cytoplasm|nucleus	RNA binding|nucleotide binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.00957)|all cancers(119;0.037)			TTGTTTCAGTCGTTTTGGTAA	0.378000														30			13		0	0	0.001855	0	0
GPR78	27201	broad.mit.edu	37	4	8588889	8588889	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr4:8588889C>T	uc003glk.3	+	2	1384	c.891C>T	c.(889-891)ctC>ctT	p.L297L	GPR78_uc021xlj.1_Non-coding_Transcript|CPZ_uc003gll.3_Intron	NM_080819	NP_543009	Q96P69	GPR78_HUMAN	Homo sapiens G protein-coupled receptor 78 (GPR78), transcript variant 1, mRNA.	297					activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(4)|kidney(4)|large_intestine(1)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26						ACTCTCTGCTCCGCCGGCCGT	0.662000														23			14		0	0	0.002450	0	0
DCDC5	100506627	broad.mit.edu	37	11	31115658	31115658	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:31115658C>T	uc009yjk.1	-	3	470	c.401G>A	c.(400-402)aGc>aAc	p.S134N	DCDC5_uc009yjl.1_Missense_Mutation_p.S62N|DCDC5_uc001msu.2_Missense_Mutation_p.S305N	NM_020869	NP_065920	Q6ZRR9	DCDC5_HUMAN	Homo sapiens doublecortin domain containing 5 (DCDC5), mRNA.	0					intracellular signal transduction					NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(17)|prostate(1)|stomach(1)	31						TTGACTCCTGCTGCTTGCTTC	0.478000														44			38		0	0	0.004878	0	0
GPM6B	2824	broad.mit.edu	37	X	13834993	13834993	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:13834993C>T	uc004cvw.3	-	0	322	c.31G>A	c.(31-33)Gaa>Aaa	p.E11K	GPM6B_uc004cvx.3_Intron|GPM6B_uc011min.1_Intron|GPM6B_uc004cwa.2_Intron|GPM6B_uc011mim.2_5'UTR|GPM6B_uc004cvy.2_Missense_Mutation_p.E11K|GPM6B_uc004cvz.2_Missense_Mutation_p.E11K	NM_001001995	NP_001001995	Q13491	GPM6B_HUMAN	Homo sapiens glycoprotein M6B (GPM6B), transcript variant 1, mRNA.	11					cell differentiation|nervous system development	integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|ovary(1)|pancreas(1)	6						TCAGTATTTTCCTCGGCTGCA	0.478000														117			117		0	0	0.014410	0	0
OR2F2	135948	broad.mit.edu	37	7	143632354	143632354	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:143632354G>A	uc011ktv.2	+	0	29	c.29G>A	c.(28-30)aGa>aAa	p.R10K		NM_001004685	NP_001004685	O95006	OR2F2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily F, member 2 (OR2F2), mRNA.	10					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	32	Melanoma(164;0.0903)					ACGTGGGTGAGAGAATTTATT	0.393000														60			61		0	0	0.014410	0	0
SNX25	83891	broad.mit.edu	37	4	186185657	186185657	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr4:186185657G>A	uc003ixh.3	+	3	494	c.305G>A	c.(304-306)aGa>aAa	p.R102K		NM_031953	NP_114159	Q9H3E2	SNX25_HUMAN	Homo sapiens sorting nexin 25 (SNX25), mRNA.	102	PXA.				cell communication|protein transport	endosome membrane	phosphatidylinositol binding|signal transducer activity			NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(8)|lung(13)|ovary(2)|pancreas(2)|prostate(2)|urinary_tract(2)	40		all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228)		GATGAAGTAAGATTTCTACAA	0.413000														51			46		0	0	0.014410	0	0
MGAM	8972	broad.mit.edu	37	7	141756641	141756641	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:141756641C>T	uc003vwy.3	+	29	3646	c.3592C>T	c.(3592-3594)Cag>Tag	p.Q1198*		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	1198	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TGTGACGTTCCAGCCCCTGCC	0.517000														34			17		0	0	0.004990	0	0
WDR11	55717	broad.mit.edu	37	10	122665480	122665480	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr10:122665480C>T	uc021pzt.1	+	26	3630	c.3384C>T	c.(3382-3384)ctC>ctT	p.L1128L	WDR11_uc010qte.2_Silent_p.L730L|WDR11_uc001lfd.1_Silent_p.L646L|AX747838_uc001lfe.1_5'Flank|WDR11_uc021pzu.1_5'Flank	NM_018117	NP_060587	Q9BZH6	WDR11_HUMAN	Homo sapiens WD repeat domain 11 (WDR11), mRNA.	1128						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						CAAAGGCTCTCCTGGTTCTCC	0.522000														38			41		0	0	0.014410	0	0
SLX4	84464	broad.mit.edu	37	16	3640116	3640116	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr16:3640116G>A	uc002cvp.2	-	11	4150	c.3523C>T	c.(3523-3525)Cct>Tct	p.P1175S		NM_032444	NP_115820	Q8IY92	SLX4_HUMAN	Homo sapiens SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae) (SLX4), mRNA.	1175	Interaction with PLK1 and TERF2-TERF2IP.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						TCTTCCAGAGGATCACTAGAA	0.453000								Direct reversal of damage						66			41		0	0	0.014410	0	0
RP1L1	94137	broad.mit.edu	37	8	10465880	10465880	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr8:10465880C>T	uc003wtc.3	-	3	5957	c.5728G>A	c.(5728-5730)Gag>Aag	p.E1910K		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA.	1910					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)		TTTTCTGCCTCCGGGGCTTCT	0.607000														101			79		0	0	0.014410	0	0
SNX8	29886	broad.mit.edu	37	7	2302895	2302895	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:2302895G>A	uc003slw.3	-	6	928	c.885C>T	c.(883-885)ttC>ttT	p.F295F		NM_013321	NP_037453	Q9Y5X2	SNX8_HUMAN	Homo sapiens sorting nexin 8 (SNX8), mRNA.	295					cell communication|early endosome to Golgi transport|intracellular protein transport	early endosome membrane	phosphatidylinositol binding|protein binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(2)|skin(3)	26		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0853)|OV - Ovarian serous cystadenocarcinoma(56;3.79e-14)		CGAGCAGCGCGAATTCCACAG	0.617000														16			37		0	0	0.009718	0	0
IFI30	10437	broad.mit.edu	37	19	18285849	18285849	+	Splice_Site	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:18285849G>A	uc002nic.1	+	2	206	c.133_splice	c.e2-1	p.T45_splice	PIK3R2_uc002nib.1_Splice_Site	NM_006332	NP_006323	P13284	GILT_HUMAN	Homo sapiens interferon, gamma-inducible protein 30 (IFI30), mRNA.	45					antigen processing and presentation of exogenous peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway	cell junction|extracellular region|lysosome	oxidoreductase activity, acting on a sulfur group of donors			endometrium(1)|kidney(2)|large_intestine(1)|stomach(1)	5						CTAATCCACAGACAGGCAATC	0.572000														13			12		0	0	0.002450	0	0
CXCR1	3577	broad.mit.edu	37	2	219028987	219028987	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:219028987G>A	uc021vwq.1	-	0	948	c.948C>T	c.(946-948)ttC>ttT	p.F316F	CXCR1_uc002vhc.3_Silent_p.F316F|HV303425_uc021vwr.1_5'Flank	NM_000634	NP_000625	P25024	CXCR1_HUMAN	Homo sapiens chemokine (C-X-C motif) receptor 1 (CXCR1), mRNA.	316					dendritic cell chemotaxis|inflammatory response	integral to membrane|plasma membrane	interleukin-8 receptor activity			endometrium(1)|large_intestine(2)|lung(7)|prostate(3)	13						GGATCTTGAGGAATCCATGGC	0.527000														48			44		0	0	0.010771	0	0
CYP4F11	57834	broad.mit.edu	37	19	16038149	16038149	+	Splice_Site	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:16038149C>T	uc002nbu.2	-	5	434	c.398_splice	c.e5-1	p.G133_splice	CYP4F11_uc010eab.1_Splice_Site_p.G133_splice|CYP4F11_uc002nbt.2_Splice_Site_p.G133_splice	NM_001128932	NP_067010	Q9HBI6	CP4FB_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 11 (CYP4F11), transcript variant 2, mRNA.	133					inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						GAGCCCATCCCCTGGCAGGGC	0.552000														61			53		0	0	0.014410	0	0
SLITRK6	84189	broad.mit.edu	37	13	86368512	86368512	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr13:86368512C>T	uc001vll.1	-	1	2591	c.2132G>A	c.(2131-2133)gGa>gAa	p.G711E	SLITRK6_uc021rla.1_Missense_Mutation_p.G711E	NM_032229	NP_115605	Q9H5Y7	SLIK6_HUMAN	Homo sapiens SLIT and NTRK-like family, member 6 (SLITRK6), mRNA.	711						integral to membrane		p.G711E(2)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		TGCATCACTTCCTTCTTTCTC	0.413000														114			98		0	0	0.014410	0	0
UBN2	254048	broad.mit.edu	37	7	138946034	138946034	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:138946034G>A	uc011kqr.2	+	5	942	c.942G>A	c.(940-942)aaG>aaA	p.K314K	BC045656_uc022amp.1_5'Flank|UBN2_uc003vuv.3_Silent_p.K37K	NM_173569	NP_775840	Q6ZU65	UBN2_HUMAN	Homo sapiens ubinuclein 2 (UBN2), mRNA.	314	Lys-rich.									NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						CTGAAAAAAAGAAGAAACGTT	0.353000														53			17		0	0	0.004007	0	0
PEG3	5178	broad.mit.edu	37	19	57286743	57286743	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:57286743C>T	uc002qnr.2	-	10	1279	c.897G>A	c.(895-897)aaG>aaA	p.K299K	BC036412_uc010ygp.1_Intron|BC036412_uc002qnp.1_Intron|PEG3_uc010ygr.1_Silent_p.K95K|PEG3_uc010ygq.1_Silent_p.K95K|PEG3_uc010etp.2_Silent_p.K299K|PEG3_uc010ygs.1_Silent_p.K299K|PEG3_uc002qnq.2_Silent_p.K299K	NM_015363	NP_056178	Q9GZU2	PEG3_HUMAN	Homo sapiens zinc finger, imprinted 2 (ZIM2), transcript variant 1, mRNA.	450					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		CTAGAGGATCCTTTGATTGTT	0.443000														30			24		0	0	0.014323	0	0
MAPK1IP1L	93487	broad.mit.edu	37	14	55529629	55529629	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr14:55529629C>T	uc001xbq.1	+	2	476	c.312C>T	c.(310-312)gcC>gcT	p.A104A		NM_144578	NP_653179	Q8NDC0	MISSL_HUMAN	Homo sapiens mitogen-activated protein kinase 1 interacting protein 1-like (MAPK1IP1L), mRNA.	104	Pro-rich.									endometrium(2)|large_intestine(1)|lung(3)	6						CTTATCCAGCCCCAACTGTGC	0.617000														20			19		0	0	0.006122	0	0
GRIA4	2893	broad.mit.edu	37	11	105804641	105804641	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:105804641G>A	uc001pix.2	+	13	2686	c.2240G>A	c.(2239-2241)gGa>gAa	p.G747E	GRIA4_uc001piw.2_Missense_Mutation_p.G747E|GRIA4_uc010rvm.1_Non-coding_Transcript|GRIA4_uc009yxl.1_Non-coding_Transcript	NM_000829	NP_000820	P48058	GRIA4_HUMAN	Homo sapiens glutamate receptor, ionotrophic, AMPA 4 (GRIA4), transcript variant 1, mRNA.	747					glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	L-Glutamic Acid(DB00142)	AAAGTGGGAGGAAATCTGGAT	0.438000														5			15		0	0	0.004007	0	0
CLDN18	51208	broad.mit.edu	37	3	137717827	137717827	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:137717827C>T	uc003ero.1	+	0	170	c.117C>T	c.(115-117)ccC>ccT	p.P39P		NM_001002026	NP_001002026	P56856	CLD18_HUMAN	Homo sapiens claudin 18 (CLDN18), transcript variant 2, mRNA.	39					calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	6						ACAACAACCCCGTAACAGCTG	0.592000														67			30		0	0	0.012213	0	0
ANO2	57101	broad.mit.edu	37	12	5848555	5848555	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:5848555G>A	uc001qnm.2	-	12	1422	c.1350C>T	c.(1348-1350)ttC>ttT	p.F450F		NM_020373	NP_065106	Q9NQ90	ANO2_HUMAN	Homo sapiens anoctamin 2 (ANO2), mRNA.	455						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						AGTTTTCCAGGAACATGGTAG	0.438000														7			3		0	0	0.009096	0	0
ANO9	338440	broad.mit.edu	37	11	429596	429596	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:429596C>T	uc001lpi.2	-	10	974	c.889G>A	c.(889-891)Gac>Aac	p.D297N	ANO9_uc001lph.2_5'UTR|ANO9_uc010qvv.1_Missense_Mutation_p.D153N	NM_001012302	NP_001012302	A1A5B4	ANO9_HUMAN	Homo sapiens anoctamin 9 (ANO9), mRNA.	297						chloride channel complex	chloride channel activity			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4)	21						ACGTACAGGTCCCAGTGCAGG	0.701000														12			10		0	0	0.006214	0	0
FCRL6	343413	broad.mit.edu	37	1	159778147	159778147	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:159778147C>T	uc001fud.4	+	2	274	c.232C>T	c.(232-234)Cgt>Tgt	p.R78C	FCRL6_uc010pix.1_Missense_Mutation_p.R73C|FCRL6_uc001fuc.2_Missense_Mutation_p.R85C|FCRL6_uc009wsz.1_Missense_Mutation_p.R78C|FCRL6_uc009wta.3_Missense_Mutation_p.R78C	NM_001004310	NP_001004310	Q6DN72	FCRL6_HUMAN	Homo sapiens Fc receptor-like 6 (FCRL6), mRNA.	78	Ig-like C2-type 1.					integral to membrane				NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	24	all_hematologic(112;0.0597)					AGTGCAGAGCCGTGGCCAGTA	0.488000														1			59		0	0	0.014410	0	0
LAMP5	24141	broad.mit.edu	37	20	9510314	9510314	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr20:9510314G>A	uc002wni.2	+	5	1185	c.690G>A	c.(688-690)cgG>cgA	p.R230R	LAMP5_uc010zrc.2_Silent_p.R186R	NM_012261	NP_036393	Q9UJQ1	CT103_HUMAN	Homo sapiens lysosomal-associated membrane protein family, member 5 (LAMP5), transcript variant 1, mRNA.	230						integral to membrane											TGGATGAGCGGGAGCAACTGG	0.468000														23			17		0	0	0.010504	0	0
ATP5S	27109	broad.mit.edu	37	14	50789412	50789412	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr14:50789412C>T	uc010ant.2	+	1	252	c.252C>T	c.(250-252)atC>atT	p.I84I	ATP5S_uc001wxv.3_Silent_p.I112I|ATP5S_uc021rsv.1_Silent_p.I96I|ATP5S_uc001wxw.2_Silent_p.I112I|ATP5S_uc001wxx.2_Silent_p.I112I	NM_001003803	NP_001003803	Q99766	ATP5S_HUMAN	Homo sapiens ATP synthase, H+ transporting, mitochondrial Fo complex, subunit s (factor B) (ATP5S), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	112					ATP biosynthetic process	mitochondrial inner membrane|proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transmembrane transporter activity			breast(2)|kidney(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|skin(2)|stomach(1)	12	all_epithelial(31;0.000636)|Breast(41;0.0102)			OV - Ovarian serous cystadenocarcinoma(311;0.0685)		ACTCTTGTATCATGAGCATTG	0.468000														34			16		0	0	0.010504	0	0
HKDC1	80201	broad.mit.edu	37	10	71010086	71010086	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr10:71010086C>T	uc001jpf.4	+	10	1744	c.1611C>T	c.(1609-1611)aaC>aaT	p.N537N	HKDC1_uc010qje.2_Silent_p.N400N	NM_025130	NP_079406	Q2TB90	HKDC1_HUMAN	Homo sapiens hexokinase domain containing 1 (HKDC1), mRNA.	537					glycolysis	mitochondrion|nucleus	ATP binding|hexokinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						GGGGAACCAACTTCCGGGTCC	0.547000														91			63		0	0	0.014410	0	0
ATP2B2	491	broad.mit.edu	37	3	10391874	10391874	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:10391874C>T	uc003bvt.3	-	15	2765	c.2326G>A	c.(2326-2328)Gag>Aag	p.E776K	ATP2B2_uc003bvv.3_Missense_Mutation_p.E731K|ATP2B2_uc003bvw.3_Missense_Mutation_p.E731K|ATP2B2_uc010hdo.3_Missense_Mutation_p.E481K	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 2 (ATP2B2), transcript variant 1, mRNA.	776					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|PDZ domain binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion 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						TCAATTCGCTCCTGCTCAATC	0.622000														17			13		0	0	0.003163	0	0
TMEM132A	54972	broad.mit.edu	37	11	60702236	60702236	+	Splice_Site	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:60702236G>A	uc001nqi.3	+	9	2032	c.1839_splice	c.e9+1	p.E613_splice	TMEM132A_uc001nqj.3_Splice_Site_p.E612_splice	NM_017870	NP_060340	Q24JP5	T132A_HUMAN	Homo sapiens transmembrane protein 132A (TMEM132A), transcript variant 1, mRNA.	612	Binds to HSPA5/GRP78 (By similarity).					Golgi membrane|endoplasmic reticulum membrane|integral to membrane				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						CCTCCATTGAGGTAAGCAGCT	0.662000														17			14		0	0	0.004990	0	0
FAM71B	153745	broad.mit.edu	37	5	156592907	156592907	+	Silent	SNP	T	C	C			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:156592907T>C	uc003lwn.3	-	0	373	c.273A>G	c.(271-273)caA>caG	p.Q91Q		NM_130899	NP_570969	Q8TC56	FA71B_HUMAN	Homo sapiens family with sequence similarity 71, member B (FAM71B), mRNA.	91						nucleus				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TTTTAGTTGGTTGGGCCAGAA	0.567000														292			268		0	0	0.014410	0	0
TCRBV5S2	0	broad.mit.edu	37	7	142131530	142131530	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:142131530C>T	uc010lnz.1	-	1	269	c.225G>A	c.(223-225)caG>caA	p.Q75Q	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|TCRBV5S2_uc022ang.1_Non-coding_Transcript					SubName: Full=V_segment translation product; Flags: Fragment;																		AGTTGCCTCTCTGTCTCTCTT	0.532000														89			40		0	0	0.007835	0	0
WHSC1L1	54904	broad.mit.edu	37	8	38157053	38157053	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr8:38157053G>A	uc003xli.3	-	14	3185	c.2667C>T	c.(2665-2667)tcC>tcT	p.S889S	WHSC1L1_uc011lbm.2_Silent_p.S889S|WHSC1L1_uc010lwe.3_Intron	NM_023034	NP_075447	Q9BZ95	NSD3_HUMAN	Homo sapiens Wolf-Hirschhorn syndrome candidate 1-like 1 (WHSC1L1), transcript variant long, mRNA.	889					cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			GTAGGTAGTGGGACTTATAGG	0.398000			T	NUP98	AML									25			21		0	0	0.010504	0	0
COL4A4	1286	broad.mit.edu	37	2	227915872	227915872	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:227915872C>T	uc021vxr.1	-	31	3072	c.2971G>A	c.(2971-2973)Gat>Aat	p.D991N	COL4A4_uc021vxs.1_Missense_Mutation_p.D991N	NM_000092	NP_000083	P53420	CO4A4_HUMAN	Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.	991	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		GTTCCTTTATCACCTGATGAA	0.493000														37			36		0	0	0.003755	0	0
NXF4	55999	broad.mit.edu	37	X	101817561	101817561	+	RNA	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:101817561G>A	uc004ejf.1	+	3		c.487G>A								Homo sapiens nuclear RNA export factor 4 pseudogene (NXF4), non-coding RNA.											endometrium(2)|lung(8)	10						ATAAGAGTTGGATAGTGAATT	0.433000														9			6		0	0	0.001984	0	0
TBX20	57057	broad.mit.edu	37	7	35242183	35242183	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:35242183G>A	uc011kas.2	-	7	1683	c.1203C>T	c.(1201-1203)gcC>gcT	p.A401A		NM_001077653	NP_001071121	Q9UMR3	TBX20_HUMAN	Homo sapiens T-box 20 (TBX20), transcript variant 1, mRNA.	401						nucleus	DNA binding			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1)	18						AGCTGGCAATGGCCGATGGTG	0.557000														16			26		0	0	0.004656	0	0
SLA	6503	broad.mit.edu	37	8	134057307	134057307	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr8:134057307G>A	uc011ljd.2	-	4	604	c.526C>T	c.(526-528)Cgt>Tgt	p.R176C	TG_uc003ytw.3_Intron|TG_uc010mdw.3_Intron|TG_uc011ljb.2_Intron|TG_uc011ljc.2_Intron|SLA_uc003ytz.3_Missense_Mutation_p.R136C|SLA_uc011lje.2_Missense_Mutation_p.R153C|SLA_uc011ljf.2_Missense_Mutation_p.R28C|SLA_uc011ljg.2_Intron	NM_006748	NP_006739	Q13239	SLAP1_HUMAN	Homo sapiens Src-like-adaptor (SLA), transcript variant 3, mRNA.	136						endosome	SH3/SH2 adaptor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(6)|prostate(1)|skin(1)	17	all_epithelial(106;3.51e-21)|Lung NSC(106;4.24e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0279)|Breast(495;0.037)	BRCA - Breast invasive adenocarcinoma(115;0.000701)			TTGGGCAGACGGAAAATGCGG	0.527000														18			22		0	0	0.003330	0	0
abParts	0	broad.mit.edu	37	22	22550398	22550398	+	RNA	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr22:22550398G>A	uc021wml.1	+	14		c.1209G>A								Parts of antibodies, mostly variable regions.																		TGCTGACTCAGCCCCACTCTG	0.557000											OREG0026353	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		15			10		0	0	0.013537	0	0
OR2C3	81472	broad.mit.edu	37	1	247695172	247695172	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:247695172G>A	uc021pmb.1	-	0	642	c.642C>T	c.(640-642)ctC>ctT	p.L214L	C1orf150_uc009xgw.3_Intron|C1orf150_uc001ida.4_Intron|C1orf150_uc001idb.4_Intron|C1orf150_uc009xgx.3_Intron|OR2C3_uc001idd.3_5'Flank|OR2C3_uc009xgy.3_Silent_p.L214L	NM_198074	NP_932340	Q8N628	OR2C3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily C, member 3 (OR2C3), mRNA.	214					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)			AGACCAGGATGAGCCCCAGAG	0.547000														2			74		0	0	0.014410	0	0
MAGEC1	9947	broad.mit.edu	37	X	140995048	140995048	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:140995048G>A	uc004fbt.3	+	3	2182	c.1858G>A	c.(1858-1860)Gaa>Aaa	p.E620K	MAGEC1_uc010nsl.2_Intron|MAGEC1_uc022cfi.1_Missense_Mutation_p.E279K	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	620							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TCAGGGGGAGGAATTCCAGTC	0.562000										HNSCC(15;0.026)				260			130		0	0	0.014410	0	0
MUC16	94025	broad.mit.edu	37	19	9074546	9074547	+	Missense_Mutation	DNP	CT	TA	TA			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:9074546_9074547CT>TA	uc002mkp.3	-	2	13103_13104	c.12899_12900AG>TA	c.(12898-12900)gag>gTA	p.E4300V		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	4302	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						AGGACACTGTCTCAATCTCTGT	0.515000														23			17		0	0	0.004672	0	0
IRS4	8471	broad.mit.edu	37	X	107977900	107977900	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:107977900C>T	uc004eoc.2	-	0	1708	c.1675G>A	c.(1675-1677)Ggt>Agt	p.G559S		NM_003604	NP_003595	O14654	IRS4_HUMAN	Homo sapiens insulin receptor substrate 4 (IRS4), mRNA.	559						plasma membrane	SH3/SH2 adaptor activity|insulin receptor binding|signal transducer activity	p.G559C(2)		NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						TGGCCACCACCTGAACCGTGC	0.652000														92			64		0	0	0.014410	0	0
VPS54	51542	broad.mit.edu	37	2	64208941	64208941	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:64208941G>A	uc002scq.3	-	2	380	c.217C>T	c.(217-219)Ctc>Ttc	p.L73F	VPS54_uc002scp.3_Missense_Mutation_p.L61F	NM_016516	NP_057600	Q9P1Q0	VPS54_HUMAN	Homo sapiens vacuolar protein sorting 54 homolog (S. cerevisiae) (VPS54), transcript variant 1, mRNA.	73					protein transport|retrograde transport, endosome to Golgi					endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	27						GCTGCTGGGAGATTTACTTTG	0.378000														60			56		0	0	0.014410	0	0
TSHR	7253	broad.mit.edu	37	14	81422135	81422135	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr14:81422135C>T	uc001xvd.1	+	0	267	c.111C>T	c.(109-111)ttC>ttT	p.F37F	CEP128_uc001xva.1_Intron|TSHR_uc001xvb.1_Silent_p.F37F|TSHR_uc001xvc.3_Silent_p.F37F|TSHR_uc010tvs.2_Silent_p.F37F	NM_000369	NP_000360	P16473	TSHR_HUMAN	Homo sapiens thyroid stimulating hormone receptor (TSHR), transcript variant 1, mRNA.	37					cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	AGGAGGACTTCAGAGTCACCT	0.602000			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism							57			60		0	0	0.014410	0	0
MDGA2	161357	broad.mit.edu	37	14	47530677	47530677	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr14:47530677G>A	uc001wwj.4	-	6	1458	c.1300C>T	c.(1300-1302)Cct>Tct	p.P434S	MDGA2_uc001wwi.4_Missense_Mutation_p.P136S|MDGA2_uc010ani.3_5'UTR	NM_001113498	NP_878250	Q7Z553	MDGA2_HUMAN	Homo sapiens MAM domain containing glycosylphosphatidylinositol anchor 2 (MDGA2), transcript variant 1, mRNA.	365	Ig-like 4.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						TCCTCAGAAGGAACAGCTTCT	0.423000														35			27		0	0	0.005443	0	0
AIM1L	55057	broad.mit.edu	37	1	26671923	26671923	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:26671923C>T	uc001bmd.4	-	1	1376	c.1226G>A	c.(1225-1227)aGg>aAg	p.R409K		NM_001039775	NP_001034864	Q8N1P7	AIM1L_HUMAN	Homo sapiens absent in melanoma 1-like (AIM1L), mRNA.	0	Beta/gamma crystallin 'Greek key' 9.						sugar binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|pancreas(1)|skin(2)	12		all_cancers(24;4.67e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.51e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000792)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.00858)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.165)|LUSC - Lung squamous cell carcinoma(448;0.239)		ATGCTCGCTCCTCACCATGGG	0.632000														0			19		0	0	0.007413	0	0
ANKRD20A9P	284232	broad.mit.edu	37	13	19409639	19409639	+	RNA	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr13:19409639C>T	uc010tcj.1	-	0		c.36471G>A								Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA.																		AATAAAGCCTCTTTGGATATT	0.328000														41			44		0	0	0.010771	0	0
DMXL2	23312	broad.mit.edu	37	15	51791142	51791142	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr15:51791142G>A	uc010ufy.2	-	17	4504	c.4279C>T	c.(4279-4281)Cct>Tct	p.P1427S	DMXL2_uc002abf.3_Missense_Mutation_p.P1427S|DMXL2_uc010bfa.3_Intron	NM_001174116	NP_001167587	Q8TDJ6	DMXL2_HUMAN	Homo sapiens Dmx-like 2 (DMXL2), transcript variant 1, mRNA.	1427						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		GGTAGTGGAGGGATAGAATCT	0.398000														67			62		0	0	0.014410	0	0
DNAH9	1770	broad.mit.edu	37	17	11784661	11784661	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr17:11784661G>A	uc002gne.3	+	54	10805	c.10737G>A	c.(10735-10737)agG>agA	p.R3579R	DNAH9_uc010coo.3_Silent_p.R2873R|DNAH9_uc002gnf.3_5'Flank|DNAH9_uc010vvh.1_5'Flank	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	3579	AAA 5 (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)		CCGTGACCAGGGATGGCCTGG	0.582000														24			33		0	0	0.004289	0	0
CHGB	1114	broad.mit.edu	37	20	5903299	5903299	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr20:5903299G>A	uc002wmg.3	+	3	815	c.509G>A	c.(508-510)gGa>gAa	p.G170E	CHGB_uc010zqz.2_5'UTR	NM_001819	NP_001810	P05060	SCG1_HUMAN	Homo sapiens chromogranin B (secretogranin 1) (CHGB), mRNA.	170	Poly-Glu.					extracellular region	hormone activity	p.G170E(2)		breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						GAGGAGGAGGGAGAGAACTAT	0.507000														26			17		0	0	0.006122	0	0
MYO5B	4645	broad.mit.edu	37	18	47402197	47402197	+	Splice_Site	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr18:47402197C>T	uc002leb.2	-	26	3685	c.3397_splice	c.e26-1	p.E1133_splice	MYO5B_uc002lea.2_Splice_Site_p.E274_splice	NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN	Homo sapiens myosin VB (MYO5B), mRNA.	1133					protein transport	myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		AGGCCAATTTCCTTCAAAGGA	0.498000														29			29		0	0	0.010818	0	0
SRSF3	6428	broad.mit.edu	37	6	36566699	36566699	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr6:36566699C>T	uc003omj.3	+	2	451	c.280C>T	c.(280-282)Ccc>Tcc	p.P94S	SRSF3_uc003omk.3_Non-coding_Transcript|SRSF3_uc011dtp.1_Missense_Mutation_p.P94S	NM_003017	NP_003008	P84103	SRSF3_HUMAN	Homo sapiens serine/arginine-rich splicing factor 3 (SRSF3), transcript variant 1, mRNA.	94	Arg/Ser-rich (RS domain).				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	RNA binding|nucleotide binding|protein binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(2)	7						TGGCCCACCTCCCTCTTGGGG	0.478000														93			39		0	0	0.014410	0	0
FAM9A	171482	broad.mit.edu	37	X	8768129	8768129	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:8768129C>T	uc022bsk.1	-	1	220	c.84G>A	c.(82-84)acG>acA	p.T28T	FAM9A_uc004csg.3_Silent_p.T28T	NM_001171186	NP_777611	Q8IZU1	FAM9A_HUMAN	Homo sapiens family with sequence similarity 9, member A (FAM9A), transcript variant 1, mRNA.	28						nucleolus				endometrium(11)|kidney(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	18		Hepatocellular(5;0.219)				CACCTTCTTTCGTGGCCCCCT	0.642000														14			10		0	0	0.004007	0	0
ZC3H12B	340554	broad.mit.edu	37	X	64708956	64708956	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:64708956C>T	uc010nko.3	+	0	342	c.275C>T	c.(274-276)tCc>tTc	p.S92F		NM_001010888	NP_001010888	Q5HYM0	ZC12B_HUMAN	Homo sapiens zinc finger CCCH-type containing 12B (ZC3H12B), mRNA.	81							endonuclease activity|nucleic acid binding|zinc ion binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CCAAGTTTCTCCCAGAGCAGC	0.493000														51			48		0	0	0.014410	0	0
DLGAP3	58512	broad.mit.edu	37	1	35365784	35365784	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:35365784C>T	uc001byc.3	-	1	1198	c.1198G>A	c.(1198-1200)Gcc>Acc	p.A400T		NM_001080418	NP_001073887	O95886	DLGP3_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 3 (DLGAP3), mRNA.	400					cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				TCCCCCATGGCTTTGATGTAG	0.647000														4			77		0	0	0.014410	0	0
LRBA	987	broad.mit.edu	37	4	151247031	151247031	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr4:151247031C>T	uc010ipj.3	-	49	7659	c.7415G>A	c.(7414-7416)cGa>cAa	p.R2472Q	LRBA_uc010ipi.3_Intron|LRBA_uc003ils.4_Missense_Mutation_p.R362Q|LRBA_uc003ilt.4_Missense_Mutation_p.R1120Q|LRBA_uc003ilu.4_Missense_Mutation_p.R2461Q	NM_006726	NP_006717	P50851	LRBA_HUMAN	Homo sapiens LPS-responsive vesicle trafficking, beach and anchor containing (LRBA), transcript variant 2, mRNA.	2472	BEACH.					Golgi apparatus|endoplasmic reticulum|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)					TCCAAAACTTCGGATTTGAGC	0.453000														13			9		0	0	0.008291	0	0
CCDC108	255101	broad.mit.edu	37	2	219903137	219903137	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:219903137C>T	uc002vjl.1	-	3	401	c.317G>A	c.(316-318)aGc>aAc	p.S106N	CCDC108_uc010zkp.1_Missense_Mutation_p.S95N|CCDC108_uc010zkq.1_Missense_Mutation_p.S41N|CCDC108_uc002vjn.3_Missense_Mutation_p.S41N	NM_194302	NP_919278	Q6ZU64	CC108_HUMAN	Homo sapiens coiled-coil domain containing 108 (CCDC108), transcript variant 1, mRNA.	106						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGCTGCACTGCTGTCGTTGAT	0.637000														32			20		0	0	0.010504	0	0
KIR2DL1	3802	broad.mit.edu	37	19	55250025	55250025	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:55250025C>T	uc002qgx.3	+	0	52	c.15C>T	c.(13-15)gtC>gtT	p.V5V	KIR2DL1_uc010erw.1_Silent_p.V5V|KIR2DL1_uc002qgz.1_5'Flank	NM_015868	NP_056952	P43626	KI2L1_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3 (KIR2DL3), mRNA.	5			V -> F (in dbSNP:rs2304224).		immune response|natural killer cell inhibitory signaling pathway	integral to plasma membrane	protein binding|receptor activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17				GBM - Glioblastoma multiforme(193;0.0192)		CGCTCATGGTCGTCAGCATGG	0.612000											OREG0003673	type=REGULATORY REGION|Gene=KIR2DL3|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay		51			32		0	0	0.005524	0	0
CADM3	57863	broad.mit.edu	37	1	159163743	159163743	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:159163743G>A	uc001ftl.2	+	4	783	c.604G>A	c.(604-606)Gat>Aat	p.D202N	CADM3_uc009wsy.1_Intron|CADM3_uc001ftk.2_Missense_Mutation_p.D236N	NM_001127173	NP_001120645	Q8N126	CADM3_HUMAN	Homo sapiens cell adhesion molecule 3 (CADM3), transcript variant 2, mRNA.	202	Ig-like C2-type 1.				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)					TACCCGGGAGGATGATGGGGC	0.502000														3			83		0	0	0.014410	0	0
PHC3	80012	broad.mit.edu	37	3	169854299	169854299	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:169854299G>A	uc003fgl.2	-	6	861	c.827C>T	c.(826-828)cCa>cTa	p.P276L	PHC3_uc010hws.1_Missense_Mutation_p.P264L|PHC3_uc011bpq.1_Missense_Mutation_p.P223L|PHC3_uc011bpr.1_Missense_Mutation_p.P190L|PHC3_uc003fgm.2_Missense_Mutation_p.P276L	NM_024947	NP_079223	Q8NDX5	PHC3_HUMAN	Homo sapiens polyhomeotic homolog 3 (Drosophila) (PHC3), mRNA.	264	Ser-rich.				multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2)	26	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			ATTACTTTCTGGAGAAGGATC	0.433000														25			28		0	0	0.005443	0	0
NTNG2	84628	broad.mit.edu	37	9	135073983	135073983	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr9:135073983G>A	uc004cbh.2	+	2	1620	c.844G>A	c.(844-846)Gag>Aag	p.E282K		NM_032536	NP_115925	Q96CW9	NTNG2_HUMAN	Homo sapiens netrin G2 (NTNG2), mRNA.	282	Laminin N-terminal.				axonogenesis	anchored to plasma membrane				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)		CTCCAACATCGAGGTCATCGG	0.602000														2			16		0	0	0.006122	0	0
XKR9	389668	broad.mit.edu	37	8	71646647	71646647	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr8:71646647C>T	uc003xyq.3	+	4	1644	c.1110C>T	c.(1108-1110)ttC>ttT	p.F370F	XKR9_uc010lzd.3_Silent_p.F238F|XKR9_uc010lze.3_Silent_p.F370F	NM_001011720	NP_001011720	Q5GH70	XKR9_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 9 (XKR9), mRNA.	370						integral to membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19	Breast(64;0.0716)		Epithelial(68;0.00301)|all cancers(69;0.0165)|OV - Ovarian serous cystadenocarcinoma(28;0.0524)|BRCA - Breast invasive adenocarcinoma(89;0.166)			TGAGATATTTCCTAATGGAAT	0.294000														21			14		0	0	0.004007	0	0
C19orf57	79173	broad.mit.edu	37	19	14000427	14000427	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:14000427G>A	uc002mxl.1	-	5	1301	c.1242C>T	c.(1240-1242)ggC>ggT	p.G414G	C19orf57_uc002mxk.1_Silent_p.G296G	NM_024323	NP_077299	Q0VDD7	CS057_HUMAN	Homo sapiens chromosome 19 open reading frame 57 (C19orf57), mRNA.	414					multicellular organismal development		protein binding			breast(2)|kidney(1)|lung(3)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			AGGCTGTAGGGCCCACTAGGA	0.642000														11			13		0	0	0.013537	0	0
FAT4	79633	broad.mit.edu	37	4	126412606	126412606	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr4:126412606G>A	uc003ifj.4	+	16	14629	c.14629G>A	c.(14629-14631)Gat>Aat	p.D4877N	FAT4_uc011cgp.2_Missense_Mutation_p.D3118N|FAT4_uc003ifi.1_Missense_Mutation_p.D2354N	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	4877					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CAATGAATCTGATGCAGATGA	0.493000														37			31		0	0	0.003755	0	0
CYBB	1536	broad.mit.edu	37	X	37658288	37658288	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:37658288G>A	uc004ddr.2	+	6	816	c.755G>A	c.(754-756)gGa>gAa	p.G252E	CYBB_uc011mke.1_Non-coding_Transcript|CYBB_uc011mkf.1_Missense_Mutation_p.G220E|CYBB_uc011mkg.1_5'UTR	NM_000397	NP_000388	P04839	CY24B_HUMAN	Homo sapiens cytochrome b-245, beta polypeptide (CYBB), mRNA.	252	Ferric oxidoreductase.				electron transport chain|inflammatory response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|heme binding|protein heterodimerization activity|superoxide-generating NADPH oxidase activity|voltage-gated ion channel activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|prostate(2)|skin(2)	32						TCAGAATGGGGAAAAATAAAG	0.383000														16			18		0	0	0.010504	0	0
DECR1	1666	broad.mit.edu	37	8	91057136	91057136	+	Silent	SNP	T	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr8:91057136T>A	uc003yek.1	+	7	939	c.798T>A	c.(796-798)atT>atA	p.I266I	DECR1_uc011lgc.1_Silent_p.I257I|DECR1_uc011lgd.1_Non-coding_Transcript	NM_001359	NP_001350	Q16698	DECR_HUMAN	Homo sapiens 2,4-dienoyl CoA reductase 1, mitochondrial (DECR1), nuclear gene encoding mitochondrial protein, mRNA.	266					fatty acid beta-oxidation|protein homotetramerization	mitochondrial matrix|nucleus|plasma membrane	2,4-dienoyl-CoA reductase (NADPH) activity|NADPH binding|oxidoreductase activity, acting on NADH or NADPH			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	15			BRCA - Breast invasive adenocarcinoma(11;0.00953)			TTGGCAGAATTCCCTGTGGTC	0.428000														54			42		0	0	0.009718	0	0
PPIG	9360	broad.mit.edu	37	2	170460756	170460756	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:170460756C>T	uc002uez.3	+	3	341	c.121C>T	c.(121-123)Cgt>Tgt	p.R41C	PPIG_uc010fpx.3_Missense_Mutation_p.R41C|PPIG_uc010fpy.3_Intron|PPIG_uc002ufa.3_Missense_Mutation_p.R41C|PPIG_uc002ufb.3_Missense_Mutation_p.R41C|PPIG_uc002ufc.1_Missense_Mutation_p.R41C|PPIG_uc002ufd.3_Missense_Mutation_p.R41C	NM_004792	NP_004783	Q13427	PPIG_HUMAN	Homo sapiens peptidylprolyl isomerase G (cyclophilin G) (PPIG), mRNA.	41	PPIase cyclophilin-type.				RNA splicing|protein folding	nuclear matrix|nuclear speck	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43					L-Proline(DB00172)	CGAGAACTTTCGTTGTCTTTG	0.343000														59			49		0	0	0.014410	0	0
TRAV12-1	28674	broad.mit.edu	37	14	22309866	22309866	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr14:22309866G>A	uc001wbx.2	+	1	351	c.250G>A	c.(250-252)Gca>Aca	p.A84T	TRA_uc021rpa.1_Intron|TCRA_uc001wbw.2_Intron					Homo sapiens mRNA for T cell receptor alpha variable 12, partial cds, clone: SEB 232.																		AAGGTTTACAGCACAGCTCAA	0.473000														64			50		0	0	0.014410	0	0
OR2A2	442361	broad.mit.edu	37	7	143807322	143807322	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:143807322C>T	uc011ktz.2	+	0	647	c.647C>T	c.(646-648)tCc>tTc	p.S216F		NM_001005480	NP_001005480	Q6IF42	OR2A2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 2 (OR2A2), mRNA.	216					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22	Melanoma(164;0.0783)					ATTCTGGTCTCCTACATGCAC	0.537000														59			102		0	0	0.014410	0	0
PLCZ1	89869	broad.mit.edu	37	12	18889170	18889170	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:18889170C>T	uc021qvx.1	-	2	311	c.120G>A	c.(118-120)gtG>gtA	p.V40V	PLCZ1_uc001rdv.4_5'UTR|PLCZ1_uc001rdw.4_5'UTR|CAPZA3_uc001rdy.3_5'Flank	NM_033123	NP_149114	Q86YW0	PLCZ1_HUMAN	Homo sapiens phospholipase C, zeta 1 (PLCZ1), mRNA.	40	EF-hand.				intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					AAATCTGTTTCACATGAATAT	0.358000														28			32		0	0	0.009535	0	0
TAF1	6872	broad.mit.edu	37	X	70586246	70586246	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:70586246G>A	uc004dzu.4	+	0	133	c.82G>A	c.(82-84)Gaa>Aaa	p.E28K	BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzt.4_Missense_Mutation_p.E28K	NM_138923	NP_620278	P21675	TAF1_HUMAN	Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa (TAF1), transcript variant 2, mRNA.	28	Protein kinase 1.				G1 phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|TBP-class protein binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|transcription coactivator activity			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				GGACAGCGACGAAGATTCCGC	0.562000														43			40		0	0	0.010771	0	0
PTPRB	5787	broad.mit.edu	37	12	70949790	70949790	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:70949790G>A	uc001swb.4	-	16	4229	c.4199C>T	c.(4198-4200)tCc>tTc	p.S1400F	PTPRB_uc010sto.2_Missense_Mutation_p.S1310F|PTPRB_uc010stp.2_Missense_Mutation_p.S1310F|PTPRB_uc001swc.4_Missense_Mutation_p.S1618F|PTPRB_uc001swa.4_Missense_Mutation_p.S1530F	NM_002837	NP_002828	P23467	PTPRB_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA.	1400	Fibronectin type-III 16.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			CAGCTTTCTGGAAAACTCAAC	0.473000														26			31		0	0	0.004289	0	0
FAM135B	51059	broad.mit.edu	37	8	139164331	139164331	+	Missense_Mutation	SNP	G	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr8:139164331G>T	uc003yuy.3	-	12	2558	c.2387C>A	c.(2386-2388)gCt>gAt	p.A796D	FAM135B_uc003yux.3_Missense_Mutation_p.A697D|FAM135B_uc003yuz.3_Non-coding_Transcript|FAM135B_uc003yva.3_Missense_Mutation_p.A358D|FAM135B_uc003yvb.3_Missense_Mutation_p.A358D	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA.	796										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)			TGAAGGTTCAGCAAAACCTCC	0.522000										HNSCC(54;0.14)				28			23		1.64293e-13	2.22481e-13	0.003330	1	0
DISC1	27185	broad.mit.edu	37	1	231954091	231954091	+	Silent	SNP	G	A	A	rs117884450	by1000genomes	TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:231954091G>A	uc010pxh.2	+	9	1958	c.1905G>A	c.(1903-1905)acG>acA	p.T635T	DISC1_uc010pwj.1_Silent_p.T592T|DISC1_uc010pwk.1_Missense_Mutation_p.R558Q|DISC1_uc010pwg.1_Silent_p.T592T|DISC1_uc010pwh.1_Silent_p.T558T|DISC1_uc010pwi.1_Silent_p.T558T|DISC1_uc010pwl.2_Non-coding_Transcript|DISC1_uc010pwr.1_Silent_p.T603T|DISC1_uc010pws.1_Missense_Mutation_p.R569Q|DISC1_uc010pwt.1_Missense_Mutation_p.G551S|DISC1_uc010pwu.1_Missense_Mutation_p.G201S|DISC1_uc010pwv.2_Non-coding_Transcript|DISC1_uc010pwx.2_Non-coding_Transcript|DISC1_uc010pww.2_Silent_p.T603T|DISC1_uc001huy.3_Silent_p.T603T|DISC1_uc010pwy.2_Non-coding_Transcript|DISC1_uc010pwz.2_Non-coding_Transcript|DISC1_uc010pxa.2_Non-coding_Transcript|DISC1_uc010pxb.1_Silent_p.T603T|DISC1_uc010pxc.1_Intron|DISC1_uc010pxe.2_Silent_p.T603T|DISC1_uc010pxf.2_Silent_p.T603T|DISC1_uc010pxg.2_Intron|DISC1_uc010pxd.2_Silent_p.T248T|DISC1_uc009xfr.3_Silent_p.T558T|DISC1_uc010pxn.1_Silent_p.T248T|DISC1_uc010pxk.1_Non-coding_Transcript|DISC1_uc010pxi.1_Non-coding_Transcript|DISC1_uc010pxj.1_Silent_p.T248T|DISC1_uc010pxl.1_Non-coding_Transcript|DISC1_uc010pxm.2_Silent_p.T481T|DISC1_uc001huz.3_Silent_p.T603T|DISC1_uc001hva.3_Silent_p.T603T|DISC2_uc001hvd.3_Non-coding_Transcript	NM_001164537	NP_001158009	Q9NRI5	DISC1_HUMAN	Homo sapiens disrupted in schizophrenia 1 (DISC1), transcript variant a, mRNA.	603	Interaction with ATF4 and ATF5.|Interaction with TRAF3IP1.|Necessary and sufficient for interaction with PCNT and localization at the centrosome.				Wnt receptor signaling pathway|microtubule cytoskeleton organization|neuron migration|positive regulation of Wnt receptor signaling pathway|positive regulation of neuroblast proliferation	centrosome|microtubule	protein binding			breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(173;0.0208)|Prostate(94;0.0975)				ATTTCTGGACGGCTAAAGACC	0.478000														143			35		0	0	0.004289	0	0
FLT3	2322	broad.mit.edu	37	13	28636006	28636006	+	Missense_Mutation	SNP	G	C	C			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr13:28636006G>C	uc001urw.3	-	2	448	c.366C>G	c.(364-366)aaC>aaG	p.N122K	FLT3_uc010aao.3_Non-coding_Transcript|FLT3_uc010tdn.2_Missense_Mutation_p.N122K	NM_004119	NP_004110	P36888	FLT3_HUMAN	Homo sapiens fms-related tyrosine kinase 3 (FLT3), mRNA.	122					positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Sorafenib(DB00398)|Sunitinib(DB01268)	CCACTTACCTGTTTTGTAAAT	0.398000			"""Mis, O"""		"""AML, ALL"""									22			15		0	0	0.004007	0	0
ZMYM3	9203	broad.mit.edu	37	X	70466457	70466457	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:70466457C>T	uc004dzh.2	-	13	2579	c.2400G>A	c.(2398-2400)ggG>ggA	p.G800G	BCYRN1_uc011mpt.1_Intron|ZMYM3_uc004dzi.2_Silent_p.G800G|ZMYM3_uc004dzj.2_Intron	NM_201599	NP_963893	Q14202	ZMYM3_HUMAN	Homo sapiens zinc finger, MYM-type 3 (ZMYM3), transcript variant 1, mRNA.	800					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					TGCCCAAATTCCCATTTTCCT	0.517000														35			20		0	0	0.003330	0	0
OR51Q1	390061	broad.mit.edu	37	11	5443766	5443766	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:5443766G>A	uc010qzd.2	+	0	426	c.336G>A	c.(334-336)atG>atA	p.M112I	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron	NM_001004757	NP_001004757	Q8NH59	O51Q1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily Q, member 1 (OR51Q1), mRNA.	112					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	37		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCTCCTTTATGGAGTCTTCTG	0.488000														72			61		0	0	0.014410	0	0
SAMD9	54809	broad.mit.edu	37	7	92733781	92733781	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:92733781G>A	uc003umf.3	-	2	1900	c.1630C>T	c.(1630-1632)Cta>Tta	p.L544L	SAMD9_uc003umg.3_Silent_p.L544L|SAMD9_uc022ahg.1_Silent_p.L544L	NM_017654	NP_060124	Q5K651	SAMD9_HUMAN	Homo sapiens sterile alpha motif domain containing 9 (SAMD9), transcript variant 1, mRNA.	544						cytoplasm		p.L544I(2)|p.L544V(2)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			GACAGTAATAGAAATACCACC	0.398000														45			71		0	0	0.014410	0	0
ZNF490	57474	broad.mit.edu	37	19	12692182	12692182	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:12692182G>A	uc002mtz.2	-	4	836	c.707C>T	c.(706-708)tCc>tTc	p.S236F		NM_020714	NP_065765	Q9ULM2	ZN490_HUMAN	Homo sapiens zinc finger protein 490 (ZNF490), mRNA.	236					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	18						GTTTCGAAAGGAAAAGAGAAA	0.433000														23			21		0	0	0.010504	0	0
PEAK1	79834	broad.mit.edu	37	15	77425774	77425774	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr15:77425774G>A	uc021sqy.1	-	6	4226	c.3650C>T	c.(3649-3651)tCc>tTc	p.S1217F		NM_024776	NP_079052	Q9H792	PEAK1_HUMAN	Homo sapiens NKF3 kinase family member (PEAK1), mRNA.	1217					cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding										CCTTTCCAAGGAGTCATAAGA	0.483000														32			28		0	0	0.004656	0	0
CBFA2T2	9139	broad.mit.edu	37	20	32194867	32194867	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr20:32194867C>T	uc002wzg.1	+	2	704	c.167C>T	c.(166-168)cCt>cTt	p.P56L	CBFA2T2_uc010zug.1_Intron|CBFA2T2_uc002wze.1_Missense_Mutation_p.P47L|CBFA2T2_uc021wbz.1_Missense_Mutation_p.P27L|CBFA2T2_uc002wzf.1_Non-coding_Transcript|CBFA2T2_uc002wzh.1_Missense_Mutation_p.P27L|CBFA2T2_uc002wzi.1_Non-coding_Transcript|CBFA2T2_uc002wzj.1_Non-coding_Transcript	NM_005093	NP_001034798	O43439	MTG8R_HUMAN	Homo sapiens core-binding factor, runt domain, alpha subunit 2; translocated to, 2 (CBFA2T2), transcript variant 2, mRNA.	56	Pro-rich.					nucleus	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)	20						CCAATAAATCCTGGAGGACCG	0.512000														33			31		0	0	0.003755	0	0
XIRP2	129446	broad.mit.edu	37	2	168105205	168105205	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:168105205G>A	uc002udx.3	+	8	7392	c.7303G>A	c.(7303-7305)Gat>Aat	p.D2435N	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.D2260N|XIRP2_uc010fpq.3_Missense_Mutation_p.D2213N|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	2260					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GCATATAAAAGATAATAAGAA	0.403000														55			50		0	0	0.014410	0	0
PSG9	5678	broad.mit.edu	37	19	43772155	43772155	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:43772155C>T	uc002owd.4	-	1	310	c.211G>A	c.(211-213)Gaa>Aaa	p.E71K	PSG9_uc002owe.4_Missense_Mutation_p.E71K|PSG9_uc010xwm.2_Missense_Mutation_p.E71K|PSG9_uc002owf.4_Missense_Mutation_p.E71K|PSG9_uc002owg.2_Missense_Mutation_p.E71K	NM_002784	NP_002775	Q00887	PSG9_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 9 (PSG9), mRNA.	71	Ig-like V-type.				female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				TCCGTCATTTCCCCTTTGTAC	0.413000														89			94		0	0	0.014410	0	0
MDGA2	161357	broad.mit.edu	37	14	47311177	47311177	+	Missense_Mutation	SNP	A	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr14:47311177A>T	uc001wwj.4	-	16	3193	c.3035T>A	c.(3034-3036)tTt>tAt	p.F1012Y	MDGA2_uc001wwh.4_Missense_Mutation_p.F145Y|MDGA2_uc001wwi.4_Missense_Mutation_p.F714Y	NM_001113498	NP_878250	Q7Z553	MDGA2_HUMAN	Homo sapiens MAM domain containing glycosylphosphatidylinositol anchor 2 (MDGA2), transcript variant 1, mRNA.	943					spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						GATAATGGGAAAAAGCCATAT	0.388000														42			22		0	0	0.004656	0	0
CD33	945	broad.mit.edu	37	19	51729081	51729081	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:51729081C>T	uc002pwa.2	+	2	481	c.441C>T	c.(439-441)atC>atT	p.I147I	CD33_uc010eos.1_Silent_p.I147I|CD33_uc010eot.1_Silent_p.I20I|CD33_uc010eou.1_Non-coding_Transcript	NM_001772	NP_001763	P20138	CD33_HUMAN	Homo sapiens CD33 molecule (CD33), transcript variant 1, mRNA.	147	Ig-like C2-type.				cell adhesion|cell-cell signaling|negative regulation of cell proliferation	external side of plasma membrane|integral to plasma membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1)	24		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	Gemtuzumab ozogamicin(DB00056)	GGCCCAAAATCCTCATCCCTG	0.572000														48			44		0	0	0.014410	0	0
C18orf34	374864	broad.mit.edu	37	18	30804827	30804827	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr18:30804827G>A	uc010xbr.1	-	15	1872	c.1730C>T	c.(1729-1731)gCc>gTc	p.A577V	C18orf34_uc010dme.1_Missense_Mutation_p.A91V|C18orf34_uc002kxn.2_Missense_Mutation_p.A577V|C18orf34_uc010dmf.1_Intron|C18orf34_uc002kxo.2_Missense_Mutation_p.A577V|C18orf34_uc002kxp.3_Missense_Mutation_p.A577V	NM_001105528	NP_001098998	Q5BJE1	CR034_HUMAN	Homo sapiens chromosome 18 open reading frame 34 (C18orf34), transcript variant 1, mRNA.	577										NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|liver(1)|lung(36)|ovary(3)|pancreas(1)|prostate(2)|skin(2)	65						CAGTGACATGGCACATATTGC	0.368000														36			24		0	0	0.003954	0	0
PLCE1	51196	broad.mit.edu	37	10	95987188	95987188	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr10:95987188G>A	uc001kjk.3	+	4	2569	c.1935G>A	c.(1933-1935)atG>atA	p.M645I	PLCE1_uc010qnx.2_Missense_Mutation_p.M645I|PLCE1_uc001kjm.3_Missense_Mutation_p.M337I	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN	Homo sapiens phospholipase C, epsilon 1 (PLCE1), transcript variant 1, mRNA.	645	Ras-GEF.				Ras protein signal transduction|activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of cell growth|regulation of smooth muscle contraction	Golgi membrane|cytosol|membrane fraction|plasma membrane	Ras GTPase binding|calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				ACGCTGTCATGGAGTTCTTGG	0.493000														99			77		0	0	0.014410	0	0
PCDHB8	56128	broad.mit.edu	37	5	140558185	140558185	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:140558185G>A	uc011dai.2	+	0	815	c.570G>A	c.(568-570)agG>agA	p.R190R	PCDHB16_uc003liv.3_5'Flank	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	Homo sapiens protocadherin beta 8 (PCDHB8), mRNA.	190	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTGATGGCAGGAAATACCCAG	0.502000														117			14		0	0	0.003163	0	0
OR3A4P	390756	broad.mit.edu	37	17	3213868	3213868	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr17:3213868C>T	uc002fvi.2	+	0	330	c.264C>T	c.(262-264)ttC>ttT	p.F88F						Homo sapiens olfactory receptor, family 3, subfamily A, member 4 pseudogene (OR3A4P), non-coding RNA.																		TGAGCCATTTCATATCCAACG	0.542000														32			19		0	0	0.014323	0	0
CEACAM8	1088	broad.mit.edu	37	19	43097973	43097973	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:43097973C>T	uc002oud.2	-	1	246	c.144G>A	c.(142-144)ggG>ggA	p.G48G	AK311181_uc010eif.1_Intron|AK310497_uc010eig.1_Intron|AK310497_uc010eih.1_Intron	NM_001816	NP_001807	P31997	CEAM8_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 8 (CEACAM8), mRNA.	48	Ig-like V-type.				immune response	anchored to membrane|extracellular space|integral to plasma membrane				endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	16		Prostate(69;0.00899)				GAACCTCCTTCCCCTCTGCAG	0.537000														89			53		0	0	0.014410	0	0
DPP10	57628	broad.mit.edu	37	2	116548899	116548899	+	Missense_Mutation	SNP	T	G	G			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:116548899T>G	uc002tle.3	+	18	1700	c.1679T>G	c.(1678-1680)aTg>aGg	p.M560R	DPP10_uc002tla.2_Missense_Mutation_p.M556R|DPP10_uc002tlb.2_Missense_Mutation_p.M506R|DPP10_uc002tlc.2_Missense_Mutation_p.M552R|DPP10_uc002tlf.2_Missense_Mutation_p.M549R	NM_001178034	NP_001171505	Q8N608	DPP10_HUMAN	Homo sapiens dipeptidyl-peptidase 10 (non-functional) (DPP10), transcript variant 3, mRNA.	556					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						AAAGATTTTATGGACCGAAAC	0.299000														43			46		0	0	0.014410	0	0
COL6A6	131873	broad.mit.edu	37	3	130283963	130283963	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:130283963G>A	uc010htl.3	+	2	818	c.787G>A	c.(787-789)Gaa>Aaa	p.E263K		NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	Homo sapiens collagen, type VI, alpha 6 (COL6A6), mRNA.	263	Nonhelical region.|VWFA 2.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						TGACATAAAGGAAAATTGCAT	0.393000														99			68		0	0	0.014410	0	0
UNC45B	146862	broad.mit.edu	37	17	33482367	33482368	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr17:33482367_33482368CC>TT	uc002hja.3	+	6	789_790	c.692_693CC>TT	c.(691-693)gcc>gTT	p.A231V	UNC45B_uc002hjb.3_Missense_Mutation_p.A231V|UNC45B_uc002hjc.3_Missense_Mutation_p.A231V|UNC45B_uc010cto.3_Missense_Mutation_p.A231V	NM_173167	NP_775259	Q8IWX7	UN45B_HUMAN	Homo sapiens unc-45 homolog B (C. elegans) (UNC45B), transcript variant 1, mRNA.	231					cell differentiation|muscle organ development	cytosol	binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				AGCCTCATGGCCGTGGAGAATG	0.569000														26			34		0	0	0.004672	0	0
PAF1	54623	broad.mit.edu	37	19	39877418	39877418	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:39877418C>T	uc002old.3	-	11	1183	c.1008G>A	c.(1006-1008)cgG>cgA	p.R336R	PAF1_uc010xuv.2_Non-coding_Transcript|PAF1_uc002ole.1_Silent_p.R326R	NM_019088	NP_061961	Q8N7H5	PAF1_HUMAN	Homo sapiens Paf1, RNA polymerase II associated factor, homolog (S. cerevisiae) (PAF1), mRNA.	336					histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|urinary_tract(2)	17	all_cancers(60;9.14e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512)		Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			CAGCCTTGGCCCGGCGCTTAC	0.572000														41			27		0	0	0.007291	0	0
PCDH18	54510	broad.mit.edu	37	4	138451272	138451272	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr4:138451272G>A	uc003ihe.4	-	0	2358	c.1971C>T	c.(1969-1971)atC>atT	p.I657I	PCDH18_uc003ihf.4_Silent_p.I650I|PCDH18_uc011cgz.2_Intron|PCDH18_uc003ihg.4_Silent_p.I437I|PCDH18_uc011cha.2_Intron	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	Homo sapiens protocadherin 18 (PCDH18), mRNA.	657	Cadherin 6.				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)					TGTCCTGAATGATAACTGACA	0.423000														106			68		0	0	0.014410	0	0
ABCB1	5243	broad.mit.edu	37	7	87175237	87175237	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:87175237C>T	uc003uiz.2	-	15	2322	c.1829G>A	c.(1828-1830)gGa>gAa	p.G610E	ABCB1_uc011khc.2_Missense_Mutation_p.G546E	NM_000927	NP_000918	P08183	MDR1_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 1 (ABCB1), mRNA.	610	ABC transporter 1.				G2/M transition of mitotic cell cycle|stem cell proliferation	Golgi membrane|apical plasma membrane|cell surface|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	ATCATGATTTCCTTTCTCCAC	0.398000														71			30		0	0	0.008361	0	0
SF3A2	8175	broad.mit.edu	37	19	2247835	2247835	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:2247835G>A	uc002lvg.3	+	8	807	c.685G>A	c.(685-687)Ggg>Agg	p.G229R	AMH_uc002lvh.2_5'Flank|AMH_uc021umr.1_5'Flank	NM_007165	NP_009096	Q15428	SF3A2_HUMAN	Homo sapiens splicing factor 3a, subunit 2, 66kDa (SF3A2), mRNA.	229	Pro-rich.				nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex	nucleic acid binding|zinc ion binding			NS(1)|large_intestine(1)|lung(2)	4		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGCCCCCCTGGGGTGAAGCG	0.667000														20			29		0	0	0.009535	0	0
SPEF2	79925	broad.mit.edu	37	5	35806810	35806810	+	Splice_Site	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:35806810C>T	uc003jjo.3	+	35	5122	c.5011_splice	c.e35-1	p.T1671_splice	SPEF2_uc003jjp.1_Splice_Site_p.T1157_splice|SPEF2_uc003jjr.3_Splice_Site_p.T726_splice	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	Homo sapiens sperm flagellar 2 (SPEF2), transcript variant 1, mRNA.	1671					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			ACTTTGCAGACCTCCTCAACT	0.378000														21			17		0	0	0.010504	0	0
DNAH5	1767	broad.mit.edu	37	5	13901544	13901544	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:13901544G>A	uc003jfd.2	-	13	1911	c.1869C>T	c.(1867-1869)atC>atT	p.I623I		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	623	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)					TCTTTCCAGCGATGGGAGGCT	0.502000									Kartagener syndrome					15			10		0	0	0.008291	0	0
LRRC37A3	374819	broad.mit.edu	37	17	62851980	62851980	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr17:62851980C>T	uc002jey.2	-	12	5453	c.4837G>A	c.(4837-4839)Gaa>Aaa	p.E1613K	LRRC37A3_uc010wqg.1_Missense_Mutation_p.E731K|LRRC37A3_uc002jex.1_Missense_Mutation_p.E590K|LRRC37A3_uc010wqf.1_Missense_Mutation_p.E651K	NM_199340	NP_955372	O60309	L37A3_HUMAN	Homo sapiens leucine rich repeat containing 37, member A3 (LRRC37A3), mRNA.	1613						integral to membrane				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						TCTTCATCTTCTTGTAATGAC	0.368000														58			42		0	0	0.014410	0	0
CER1	9350	broad.mit.edu	37	9	14722376	14722376	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr9:14722376C>T	uc003zlj.3	-	0	340	c.295G>A	c.(295-297)Gac>Aac	p.D99N		NM_005454	NP_005445	O95813	CER1_HUMAN	Homo sapiens cerberus 1, cysteine knot superfamily, homolog (Xenopus laevis) (CER1), mRNA.	99					BMP signaling pathway	extracellular space	cytokine activity			endometrium(2)|large_intestine(3)|lung(6)	11				GBM - Glioblastoma multiforme(50;3.16e-06)		CTATCTGAGTCCCTGGATGGA	0.537000														17			30		0	0	0.006320	0	0
SERPINB2	5055	broad.mit.edu	37	18	61570138	61570138	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr18:61570138G>A	uc010xeu.2	+	8	1180	c.847G>A	c.(847-849)Gaa>Aaa	p.E283K	SERPINB2_uc002ljo.3_Missense_Mutation_p.E283K|SERPINB2_uc002ljp.1_Missense_Mutation_p.E88K|SERPINB2_uc002ljq.1_Missense_Mutation_p.E88K	NM_001143818	NP_002566	P05120	PAI2_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 2 (SERPINB2), transcript variant 1, mRNA.	283					anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis	Golgi apparatus|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1)	32		Esophageal squamous(42;0.131)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	tttgCAGCTGGAAAGTGAAAT	0.328000														13			6		0	0	0.001168	0	0
ZNF101	94039	broad.mit.edu	37	19	19790253	19790253	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:19790253C>T	uc002nni.2	+	3	565	c.455C>T	c.(454-456)tCc>tTc	p.S152F	ZNF101_uc010ecg.2_Missense_Mutation_p.S32F|ZNF101_uc002nnj.2_Missense_Mutation_p.S32F	NM_033204	NP_149981	Q8IZC7	ZN101_HUMAN	Homo sapiens zinc finger protein 101 (ZNF101), mRNA.	152					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)	17						GCCTCCATTTCCCCCAGTAGT	0.493000														61			35		0	0	0.006230	0	0
CCDC64B	146439	broad.mit.edu	37	16	3079381	3079381	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr16:3079381G>A	uc002ctf.4	-	5	1052	c.1007C>T	c.(1006-1008)cCc>cTc	p.P336L	CCDC64B_uc002cte.4_Missense_Mutation_p.P129L	NM_001103175	NP_001096645	A1A5D9	BICR2_HUMAN	Homo sapiens coiled-coil domain containing 64B (CCDC64B), mRNA.	336										breast(1)|endometrium(2)|large_intestine(1)	4						CTCTTCCGGGGGTGAAGGCTG	0.577000														8			3		0	0	0.009096	0	0
PUS7L	83448	broad.mit.edu	37	12	44142338	44142338	+	Missense_Mutation	SNP	G	A	A	rs140009727		TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:44142338G>A	uc001rns.4	-	2	1065	c.985C>T	c.(985-987)Cct>Tct	p.P329S	PUS7L_uc001rnq.4_Missense_Mutation_p.P329S|PUS7L_uc001rnr.4_Missense_Mutation_p.P329S|PUS7L_uc009zkb.3_Missense_Mutation_p.P16S	NM_031292	NP_112582	Q9H0K6	PUS7L_HUMAN	Homo sapiens pseudouridylate synthase 7 homolog (S. cerevisiae)-like (PUS7L), transcript variant 3, mRNA.	329					pseudouridine synthesis|tRNA processing		RNA binding|pseudouridine synthase activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(15)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	all_cancers(12;0.00027)	Lung NSC(34;0.114)|all_lung(34;0.24)		GBM - Glioblastoma multiforme(48;0.0402)		AAATCCGAAGGAATAACACCA	0.348000														67			54		0	0	0.014410	0	0
FAM47A	158724	broad.mit.edu	37	X	34150189	34150189	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:34150189G>A	uc004ddg.3	-	0	259	c.207C>T	c.(205-207)ctC>ctT	p.L69L		NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN	Homo sapiens family with sequence similarity 47, member A (FAM47A), mRNA.	69										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						GGCGACAAACGAGAGTATCTT	0.562000														45			32		0	0	0.003271	0	0
TTBK1	84630	broad.mit.edu	37	6	43226840	43226840	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr6:43226840G>A	uc003ouq.1	+	10	1360	c.1081G>A	c.(1081-1083)Gga>Aga	p.G361R		NM_032538	NP_115927	Q5TCY1	TTBK1_HUMAN	Homo sapiens tau tubulin kinase 1 (TTBK1), mRNA.	361						cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			TGTGCTACAGGGAGAGCACCT	0.677000														49			21		0	0	0.003330	0	0
GUCA1C	9626	broad.mit.edu	37	3	108626922	108626922	+	Missense_Mutation	SNP	C	T	T	rs146701862		TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:108626922C>T	uc003dxj.2	-	3	645	c.577G>A	c.(577-579)Gac>Aac	p.D193N	GUCA1C_uc003dxk.2_3'UTR	NM_005459	NP_005450	O95843	GUC1C_HUMAN	Homo sapiens guanylate cyclase activator 1C (GUCA1C), mRNA.	193					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						TTGGAGGAGTCTGTCTCCATG	0.458000														23			19		0	0	0.007413	0	0
CORIN	10699	broad.mit.edu	37	4	47644058	47644058	+	Missense_Mutation	SNP	A	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr4:47644058A>T	uc003gxm.3	-	15	2170	c.2077T>A	c.(2077-2079)Tct>Act	p.S693T	CORIN_uc011bzf.2_Missense_Mutation_p.S554T|CORIN_uc011bzg.2_Missense_Mutation_p.S626T	NM_006587	NP_006578	Q9Y5Q5	CORIN_HUMAN	Homo sapiens corin, serine peptidase (CORIN), mRNA.	693	SRCR.				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						ACATTTATAGAGAGGGTCACT	0.443000														35			19		0	0	0.010504	0	0
SMG8	55181	broad.mit.edu	37	17	57288300	57288300	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr17:57288300C>T	uc002ixi.3	+	0	930	c.888C>T	c.(886-888)ccC>ccT	p.P296P		NM_018149	NP_060619	Q8ND04	SMG8_HUMAN	Homo sapiens smg-8 homolog, nonsense mediated mRNA decay factor (C. elegans) (SMG8), mRNA.	296					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity		protein binding			NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	33						AACATTCTCCCAAAAGGAGGC	0.498000														31			32		0	0	0.012213	0	0
PCDHB2	56133	broad.mit.edu	37	5	140476702	140476702	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:140476702C>T	uc003lil.3	+	0	2466	c.2328C>T	c.(2326-2328)ttC>ttT	p.F776F	PCDHB2_uc003lim.1_Silent_p.F437F	NM_018936	NP_061759	Q9Y5E7	PCDB2_HUMAN	Homo sapiens protocadherin beta 2 (PCDHB2), mRNA.	776					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)			TCCCCAACTTCGTTGCTCAGG	0.507000														65			45		0	0	0.014410	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140810340	140810340	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:140810340G>A	uc003lkt.2	+	0	183	c.14G>A	c.(13-15)cGa>cAa	p.R5Q	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc003lkl.2_Intron|PCDHGC5_uc003lkn.2_Intron|PCDHGC5_uc003lkq.2_Intron|PCDHGC5_uc003lkp.2_Intron|PCDHGC5_uc011dba.2_Missense_Mutation_p.R5Q	NM_003735	NP_003726	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 12 (PCDHGA12), transcript variant 1, mRNA.	0					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATTCCTGCGCGACTGCACCGG	0.517000														42			36		0	0	0.004878	0	0
CEP68	23177	broad.mit.edu	37	2	65296935	65296935	+	Splice_Site	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:65296935G>A	uc002sdl.4	+	2	571	c.357_splice	c.e2+1	p.Q119_splice	CEP68_uc002sdj.2_Splice_Site_p.Q119_splice|CEP68_uc010yqb.1_Splice_Site_p.Q119_splice|CEP68_uc002sdk.4_Splice_Site_p.Q119_splice|CEP68_uc010yqc.2_Splice_Site_p.Q119_splice|CEP68_uc010yqd.1_Splice_Site_p.Q119_splice	NM_015147	NP_055962	Q76N32	CEP68_HUMAN	Homo sapiens centrosomal protein 68kDa (CEP68), mRNA.	119					centrosome organization	centrosome				breast(1)|endometrium(6)|kidney(8)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						GGGAAAGCCAGGTAGGTACTA	0.552000														52			35		0	0	0.004289	0	0
INPPL1	3636	broad.mit.edu	37	11	71944134	71944134	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:71944134C>T	uc001osf.3	+	16	2114	c.1967C>T	c.(1966-1968)tCc>tTc	p.S656F	INPPL1_uc001osg.3_Missense_Mutation_p.S414F	NM_001567	NP_001558	O15357	SHIP2_HUMAN	Homo sapiens inositol polyphosphate phosphatase-like 1 (INPPL1), mRNA.	656					actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	SH2 domain binding|SH3 domain binding|actin binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						GAGGAGATCTCCTTCCCACCC	0.587000														9			10		0	0	0.010729	0	0
EXPH5	23086	broad.mit.edu	37	11	108382077	108382077	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:108382077C>T	uc001pkk.3	-	5	4268	c.4157G>A	c.(4156-4158)gGc>gAc	p.G1386D	EXPH5_uc010rvz.2_Missense_Mutation_p.G1230D|EXPH5_uc010rvy.2_Missense_Mutation_p.G1198D	NM_015065	NP_055880	Q149M6	Q149M6_HUMAN	Homo sapiens exophilin 5 (EXPH5), mRNA.	1386					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		CAACTTTTTGCCTCTTTCCTT	0.343000														3			21		0	0	0.002780	0	0
COG1	9382	broad.mit.edu	37	17	71193158	71193158	+	Missense_Mutation	SNP	T	G	G			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr17:71193158T>G	uc002jjg.3	+	2	716	c.680T>G	c.(679-681)cTc>cGc	p.L227R	COG1_uc002jjf.1_Missense_Mutation_p.L227R|COG1_uc002jjh.3_Missense_Mutation_p.L227R	NM_018714	NP_061184	Q8WTW3	COG1_HUMAN	Homo sapiens component of oligomeric golgi complex 1 (COG1), mRNA.	227					Golgi organization|intra-Golgi vesicle-mediated transport|protein transport	Golgi membrane|Golgi transport complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18			LUSC - Lung squamous cell carcinoma(166;0.197)			CGCCAAGCCCTCACAGACTTC	0.507000														31			20		0	0	0.008871	0	0
TMEM120B	144404	broad.mit.edu	37	12	122181600	122181600	+	Silent	SNP	T	C	C			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:122181600T>C	uc001ubc.4	+	1	279	c.135T>C	c.(133-135)agT>agC	p.S45S	TMEM120B_uc009zxh.3_Silent_p.S45S	NM_001080825	NP_001074294	A0PK00	T120B_HUMAN	Homo sapiens transmembrane protein 120B (TMEM120B), mRNA.	45						integral to membrane		p.S44S(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(6)	11	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;5.75e-05)|Epithelial(86;0.000128)|BRCA - Breast invasive adenocarcinoma(302;0.238)		TGTGTAGCAGTTCCATCAGTA	0.592000														34			27		0	0	0.013726	0	0
RNF216	54476	broad.mit.edu	37	7	5754796	5754796	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:5754796C>T	uc003sox.2	-	10	1980	c.1721G>A	c.(1720-1722)tGc>tAc	p.C574Y	RNF216_uc010ksz.2_Missense_Mutation_p.C139Y|RNF216_uc010kta.2_Missense_Mutation_p.C139Y|RNF216_uc003soy.2_Missense_Mutation_p.C517Y|RNF216_uc011jwj.2_Missense_Mutation_p.C139Y	NM_207111	NP_996994	Q9NWF9	RN216_HUMAN	Homo sapiens ring finger protein 216 (RNF216), transcript variant 1, mRNA.	517					apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production	cytoplasm|nucleus	ligase activity|protein binding|zinc ion binding	p.R573R(1)	FBXL18/RNF216(2)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4)	33		Ovarian(82;0.07)		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)		CCCATAGCAGCAGCGACACTC	0.517000														205			63		0	0	0.014410	0	0
FERD3L	222894	broad.mit.edu	37	7	19184566	19184566	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:19184566G>A	uc003suo.1	-	0	479	c.420C>T	c.(418-420)atC>atT	p.I140I	BC043576_uc003sun.1_Non-coding_Transcript	NM_152898	NP_690862	Q96RJ6	FER3L_HUMAN	Homo sapiens Fer3-like (Drosophila) (FERD3L), mRNA.	140	Helix-loop-helix motif.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|endometrium(4)|large_intestine(8)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	35						GGAGGGTCTCGATCCGGGACA	0.567000														34			34		0	0	0.003755	0	0
TRIM6-TRIM34	445372	broad.mit.edu	37	11	5664584	5664584	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:5664584C>T	uc001mbh.3	+	7	1269	c.1112C>T	c.(1111-1113)tCc>tTc	p.S371F	HBG1_uc001mak.1_Intron|TRIM6-TRIM34_uc001mbf.3_Missense_Mutation_p.S725F|TRIM6-TRIM34_uc001mbi.3_Missense_Mutation_p.S371F|TRIM6-TRIM34_uc009yer.3_Intron	NM_001003827	NP_067629	B2RNG4	B2RNG4_HUMAN	Homo sapiens tripartite motif containing 34 (TRIM34), transcript variant 4, mRNA.	725						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(9)|ovary(1)|prostate(2)|stomach(2)|urinary_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;1.01e-08)|BRCA - Breast invasive adenocarcinoma(625;0.145)		AGAACATATTCCCGCCATATG	0.423000														23			23		0	0	0.012319	0	0
CSMD2	114784	broad.mit.edu	37	1	34068071	34068071	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:34068071G>A	uc001bxm.1	-	42	6785	c.6608C>T	c.(6607-6609)tCc>tTc	p.S2203F	CSMD2_uc001bxn.1_Missense_Mutation_p.S2205F|CSMD2_uc001bxo.1_Missense_Mutation_p.S1076F	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	2205	CUB 13.					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)				ACAGTCCTGGGAGCTGGAGTA	0.597000														3			38		0	0	0.006999	0	0
ANK1	286	broad.mit.edu	37	8	41554074	41554074	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr8:41554074C>T	uc003xok.3	-	25	2851	c.2767G>A	c.(2767-2769)Ggt>Agt	p.G923S	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.3_Missense_Mutation_p.G239S|ANK1_uc003xoi.3_Missense_Mutation_p.G923S|ANK1_uc003xoj.3_Missense_Mutation_p.G923S|ANK1_uc003xol.3_Missense_Mutation_p.G923S|ANK1_uc003xom.3_Missense_Mutation_p.G964S	NM_020476	NP_065209	P16157	ANK1_HUMAN	Homo sapiens ankyrin 1, erythrocytic (ANK1), transcript variant 1, mRNA.	923	ZU5.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			ATGGAACCACCCCGGGCGTCA	0.647000														11			15		0	0	0.004007	0	0
BDP1	55814	broad.mit.edu	37	5	70806623	70806623	+	Missense_Mutation	SNP	C	T	T	rs5868598		TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:70806623C>T	uc003kbp.1	+	16	3967	c.3704C>T	c.(3703-3705)tCc>tTc	p.S1235F	BDP1_uc003kbn.1_Missense_Mutation_p.S1235F|BDP1_uc003kbo.3_Missense_Mutation_p.S1235F	NM_018429	NP_060899	A6H8Y1	BDP1_HUMAN	Homo sapiens B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB (BDP1), mRNA.	1235	9 X 55 AA repeats of G-R-R-X-I-S-P-X-E-N- G-X-E-E-V-K-P-X-X-E-M-E-T-D-L-K-X-T-G-R- E-X-X-X-R-E-K-T-X-E-X-X-D-A-X-E-E-I-D-X- D-L-E-E-T.				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		GAAGAAATTTCCCAAAGGGAA	0.398000														66			72		0	0	0.014410	0	0
LILRP2	79166	broad.mit.edu	37	19	55221911	55221911	+	RNA	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:55221911C>T	uc002qgs.1	+	0		c.2311C>T			LILRP2_uc002qgt.1_Non-coding_Transcript					Homo sapiens leukocyte immunoglobulin-like receptor pseudogene 2 (LILRP2), non-coding RNA.																		GCAGACCCTCCCTCTCGGTGC	0.637000														20			19		0	0	0.010504	0	0
C6orf222	389384	broad.mit.edu	37	6	36291943	36291943	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr6:36291943G>A	uc003oly.3	-	6	1371	c.1193C>T	c.(1192-1194)tCc>tTc	p.S398F		NM_001010903	NP_001010903	P0C671	CF222_HUMAN	Homo sapiens chromosome 6 open reading frame 222 (C6orf222), mRNA.	398										breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4)	26						TTGGAGCATGGAAATGATCTT	0.483000														126			61		0	0	0.014410	0	0
ANKS1B	56899	broad.mit.edu	37	12	99145169	99145169	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:99145169G>A	uc001tge.2	-	24	4053	c.3636C>T	c.(3634-3636)ccC>ccT	p.P1212P	ANKS1B_uc001tgf.2_Silent_p.P728P|ANKS1B_uc001tgk.3_Silent_p.P509P|ANKS1B_uc010svd.2_Silent_p.P218P|ANKS1B_uc001tgd.2_Silent_p.P378P|ANKS1B_uc009ztp.3_Silent_p.P243P|ANKS1B_uc010svf.2_Silent_p.P242P|ANKS1B_uc010sve.2_Silent_p.P242P|ANKS1B_uc001tgh.4_Silent_p.P218P|ANKS1B_uc009ztr.3_Silent_p.P402P|ANKS1B_uc001tgj.3_Silent_p.P378P|ANKS1B_uc001tgi.3_Silent_p.P462P|ANKS1B_uc009zts.2_Silent_p.P438P|ANKS1B_uc001tgg.4_Silent_p.P310P|ANKS1B_uc010svg.2_Silent_p.P347P	NM_152788	NP_690001	Q7Z6G8	ANS1B_HUMAN	Homo sapiens ankyrin repeat and sterile alpha motif domain containing 1B (ANKS1B), transcript variant 1, mRNA.	1212	PID.					Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		GCTTGGGGATGGGTTTGGAGG	0.488000														22			24		0	0	0.003330	0	0
SLIT3	6586	broad.mit.edu	37	5	168098390	168098390	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:168098390C>T	uc010jjg.3	-	33	4381	c.3961G>A	c.(3961-3963)Gag>Aag	p.E1321K	SLIT3_uc003mab.3_Missense_Mutation_p.E1314K	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA.	1314	Laminin G-like.				Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus	extracellular space|mitochondrion	Roundabout binding|calcium ion binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCCTGCAGCTCGTTGTTGATG	0.662000														14			12		0	0	0.003163	0	0
PLEKHA7	144100	broad.mit.edu	37	11	16812573	16812573	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:16812573C>T	uc010rcu.1	-	19	2937	c.2922G>A	c.(2920-2922)gtG>gtA	p.V974V	PLEKHA7_uc001mmo.3_Silent_p.V973V|PLEKHA7_uc001mmm.3_Silent_p.V76V|PLEKHA7_uc010rcv.2_Silent_p.V548V|PLEKHA7_uc001mmn.3_Silent_p.V682V	NM_175058	NP_778228	Q6IQ23	PKHA7_HUMAN	Homo sapiens pleckstrin homology domain containing, family A member 7 (PLEKHA7), mRNA.	973					epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						AATCCCCATTCACACACTGCC	0.627000														16			12		0	0	0.002450	0	0
NUP210	23225	broad.mit.edu	37	3	13363284	13363284	+	Missense_Mutation	SNP	T	G	G			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:13363284T>G	uc003bxv.1	-	35	5050	c.4967A>C	c.(4966-4968)aAg>aCg	p.K1656T		NM_024923	NP_079199	Q8TEM1	PO210_HUMAN	Homo sapiens nucleoporin 210kDa (NUP210), mRNA.	1656					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					GCTCAGGTGCTTCCGCTGCTT	0.592000														94			97		0	0	0.014410	0	0
COL5A3	50509	broad.mit.edu	37	19	10116815	10116815	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:10116815C>T	uc002mmq.1	-	1	267	c.181G>A	c.(181-183)Ggt>Agt	p.G61S		NM_015719	NP_056534	P25940	CO5A3_HUMAN	Homo sapiens collagen, type V, alpha 3 (COL5A3), mRNA.	61	TSP N-terminal.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			GCCCGGTCACCCTCTGGAGTC	0.652000														8			15		0	0	0.004007	0	0
COL15A1	1306	broad.mit.edu	37	9	101796861	101796861	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr9:101796861G>A	uc004azb.1	+	16	2280	c.2074G>A	c.(2074-2076)Gaa>Aaa	p.E692K		NM_001855	NP_001846	P39059	COFA1_HUMAN	Homo sapiens collagen, type XV, alpha 1 (COL15A1), mRNA.	692	Triple-helical region 2 (COL2).				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				CTCAGTTGGTGAAAAGGTaaa	0.353000														2			11		0	0	0.008291	0	0
SRCAP	10847	broad.mit.edu	37	16	30736020	30736020	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr16:30736020C>T	uc002dze.1	+	24	5660	c.5275C>T	c.(5275-5277)Cca>Tca	p.P1759S	SRCAP_uc002dzf.3_Non-coding_Transcript|SRCAP_uc002dzg.1_Missense_Mutation_p.P1554S	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Homo sapiens Snf2-related CREBBP activator protein (SRCAP), mRNA.	1759	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			TCCAGCTTCTCCAGTGGGccc	0.617000														20			20		0	0	0.010504	0	0
OR10G3	26533	broad.mit.edu	37	14	22038829	22038829	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr14:22038829C>T	uc010tmb.2	-	0	47	c.47G>A	c.(46-48)gGa>gAa	p.G16E		NM_001005465	NP_001005465	Q8NGC4	O10G3_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 3 (OR10G3), mRNA.	16					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)	15	all_cancers(95;0.000987)			GBM - Glioblastoma multiforme(265;0.0139)		ATACGGAATTCCTGTCAGGAT	0.398000														18			18		0	0	0.008871	0	0
HCLS1	3059	broad.mit.edu	37	3	121350950	121350950	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:121350950C>T	uc003eeh.4	-	12	1447	c.1322G>A	c.(1321-1323)gGa>gAa	p.G441E	HCLS1_uc011bjj.2_Missense_Mutation_p.G404E	NM_005335	NP_005326	P14317	HCLS1_HUMAN	Homo sapiens hematopoietic cell-specific Lyn substrate 1 (HCLS1), mRNA.	441	SH3.				erythrocyte differentiation|intracellular signal transduction|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of STAT protein|response to hormone stimulus	mitochondrion|nucleus|plasma membrane	DNA binding|sequence-specific DNA binding transcription factor activity	p.G441G(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				GBM - Glioblastoma multiforme(114;0.0912)		CAACCTACCTCCTTGGTAATC	0.537000														66			30		0	0	0.003755	0	0
TAZ	6901	broad.mit.edu	37	X	153640454	153640454	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:153640454G>A	uc010nuy.3	+	1	195	c.195G>A	c.(193-195)agG>agA	p.R65R	DNASE1L1_uc004fks.1_5'Flank|DNASE1L1_uc004fkt.1_5'Flank|DNASE1L1_uc004fku.1_5'Flank|DNASE1L1_uc004fkv.1_5'Flank|DNASE1L1_uc004fkw.1_5'Flank|TAZ_uc004fkx.3_Silent_p.R47R|TAZ_uc004fky.3_Silent_p.R47R|TAZ_uc004fkz.3_Non-coding_Transcript|TAZ_uc004fla.3_Silent_p.R47R|TAZ_uc004flb.3_Silent_p.R47R|TAZ_uc004flc.4_Intron	NM_181312	NP_851829	Q16635	TAZ_HUMAN	Homo sapiens tafazzin (TAZ), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.	47					cardiac muscle contraction|cardiac muscle tissue development|cardiolipin biosynthetic process|cristae formation|hemopoiesis|mitochondrial ATP synthesis coupled electron transport|mitochondrial respiratory chain complex I assembly|skeletal muscle tissue development	integral to membrane|mitochondrion	1-acylglycerophosphocholine O-acyltransferase activity			lung(1)	1	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TGCACAACAGGGAGGTGCTGT	0.667000											OREG0003602	type=REGULATORY REGION|Gene=DNASE1L1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay		24			9		0	0	0.006214	0	0
ANGPTL1	9068	broad.mit.edu	37	1	178820428	178820428	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:178820428C>T	uc001gma.3	-	5	1788	c.1312G>A	c.(1312-1314)Gga>Aga	p.G438R	RALGPS2_uc001gly.1_Intron|RALGPS2_uc010pnb.2_Intron|RALGPS2_uc001glz.3_Intron|ANGPTL1_uc001gmb.3_Missense_Mutation_p.G438R	NM_004673	NP_004664	O95841	ANGL1_HUMAN	Homo sapiens angiopoietin-like 1 (ANGPTL1), mRNA.	438	Fibrinogen C-terminal.					extracellular space	receptor binding			breast(2)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	14						CACCAGCCTCCTTTATGAAAG	0.403000														86			17		0	0	0.007413	0	0
FAM211A	388341	broad.mit.edu	37	17	16365616	16365616	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr17:16365616C>T	uc010cph.1	-	1	507	c.331G>A	c.(331-333)Gac>Aac	p.D111N	FAM211A_uc002gqh.2_Missense_Mutation_p.D111N|C17orf76-AS1_uc010vwo.1_Intron|C17orf76-AS1_uc010vwp.1_Intron|C17orf76-AS1_uc010vwl.1_Intron|C17orf76-AS1_uc010vwm.1_Intron|C17orf76-AS1_uc010vwn.1_Intron|C17orf76-AS1_uc021tra.1_Intron|C17orf76-AS1_uc021trb.1_Intron|C17orf76-AS1_uc021trc.1_Intron|C17orf76-AS1_uc010cpe.2_Intron	NM_001113567	NP_001107039	Q8NAA5	CQ076_HUMAN	Homo sapiens family with sequence similarity 211, member A (FAM211A), transcript variant 1, mRNA.	111										lung(1)	1						ATGATGAGGTCGTGTGTGATG	0.622000														10			12		0	0	0.001855	0	0
NUDT21	11051	broad.mit.edu	37	16	56485055	56485055	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr16:56485055G>A	uc002eja.3	-	0	207	c.60C>T	c.(58-60)ttC>ttT	p.F20F	OGFOD1_uc002ejb.3_5'Flank|OGFOD1_uc002ejc.3_5'Flank	NM_007006	NP_008937	O43809	CPSF5_HUMAN	Homo sapiens nudix (nucleoside diphosphate linked moiety X)-type motif 21 (NUDT21), mRNA.	20	Necessary for RNA-binding.				mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription	centrosome|mRNA cleavage factor complex|paraspeckles	AU-rich element binding|histone deacetylase binding|hydrolase activity|mRNA binding|protein homodimerization activity	p.F20F(2)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)	7						ACTTGTTGCCGAACTGAGTGA	0.642000														51			40		0	0	0.014410	0	0
PXDNL	137902	broad.mit.edu	37	8	52359630	52359630	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr8:52359630C>T	uc003xqu.4	-	11	1560	c.1459G>A	c.(1459-1461)Gaa>Aaa	p.E487K		NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	Homo sapiens peroxidasin homolog (Drosophila)-like (PXDNL), mRNA.	487	Ig-like C2-type 3.				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				GCTTGACATTCATATTGGCCT	0.468000														77			73		0	0	0.014410	0	0
DEGS2	123099	broad.mit.edu	37	14	100615377	100615377	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr14:100615377C>T	uc001ygx.2	-	1	841	c.753G>A	c.(751-753)tgG>tgA	p.W251*		NM_206918	NP_996801	Q6QHC5	DEGS2_HUMAN	Homo sapiens delta(4)-desaturase, sphingolipid 2 (DEGS2), mRNA.	251					fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	sphingosine hydroxylase activity			breast(1)|lung(6)|skin(1)	8		Melanoma(154;0.212)				TGAAGGTGATCCAGTTGAGAG	0.632000														40			42		0	0	0.014410	0	0
PRKCQ	5588	broad.mit.edu	37	10	6527122	6527122	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr10:6527122C>T	uc001iji.1	-	8	1193	c.1109G>A	c.(1108-1110)gGa>gAa	p.G370E	PRKCQ_uc001ijj.2_Missense_Mutation_p.G337E|PRKCQ_uc009xim.2_Missense_Mutation_p.G337E|PRKCQ_uc009xin.2_Missense_Mutation_p.G301E|PRKCQ_uc010qax.2_Missense_Mutation_p.G212E	NM_006257	NP_006248	Q04759	KPCT_HUMAN	Homo sapiens protein kinase C, theta (PRKCQ), transcript variant 1, mRNA.	337					T cell receptor signaling pathway|axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth	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						ACCTCTTTTTCCCGGTGTCGG	0.433000														90			86		0	0	0.014410	0	0
SLC33A1	9197	broad.mit.edu	37	3	155560404	155560404	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:155560404G>A	uc003fan.4	-	1	1242	c.780C>T	c.(778-780)ttC>ttT	p.F260F	SLC33A1_uc003fao.2_Silent_p.F260F	NM_001190992	NP_004724	O00400	ACATN_HUMAN	Homo sapiens solute carrier family 33 (acetyl-CoA transporter), member 1 (SLC33A1), transcript variant 2, mRNA.	260					cell death|transmembrane transport	Golgi membrane|endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	acetyl-CoA transporter activity			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	22			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			AGAAAAAAAGGAAATCTGAAA	0.234000														17			8		0	0	0.004482	0	0
MYEOV	26579	broad.mit.edu	37	11	69063750	69063750	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:69063750G>A	uc001oov.3	+	2	1283	c.833G>A	c.(832-834)aGg>aAg	p.R278K	MYEOV_uc001oox.3_Intron|MYEOV_uc009ysl.3_Missense_Mutation_p.R278K|MYEOV_uc001oow.3_Missense_Mutation_p.R220K	NM_138768	NP_620123	Q96EZ4	MYEOV_HUMAN	Homo sapiens myeloma overexpressed (in a subset of t(11;14) positive multiple myelomas) (MYEOV), mRNA.	278										endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|urinary_tract(1)	24	all_lung(4;2.21e-19)|Lung NSC(4;6.13e-19)|Melanoma(5;0.00128)		LUSC - Lung squamous cell carcinoma(11;3.33e-11)|STAD - Stomach adenocarcinoma(18;0.00654)|LUAD - Lung adenocarcinoma(13;0.0713)	Kidney(183;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(183;3.23e-08)|Lung(977;0.00361)|LUSC - Lung squamous cell carcinoma(976;0.0153)		GGAGTTAGGAGGACTGGCCAG	0.652000														6			3		0	0	0.004672	0	0
HCLS1	3059	broad.mit.edu	37	3	121353216	121353216	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:121353216C>T	uc003eeh.4	-	9	866	c.741G>A	c.(739-741)gaG>gaA	p.E247E	HCLS1_uc011bjj.2_Silent_p.E210E|HCLS1_uc011bjk.1_Non-coding_Transcript	NM_005335	NP_005326	P14317	HCLS1_HUMAN	Homo sapiens hematopoietic cell-specific Lyn substrate 1 (HCLS1), mRNA.	247					erythrocyte differentiation|intracellular signal transduction|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of STAT protein|response to hormone stimulus	mitochondrion|nucleus|plasma membrane	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				GBM - Glioblastoma multiforme(114;0.0912)		TCCTCTTCTCCTCAGCCATGG	0.557000														38			37		0	0	0.008740	0	0
NLRP11	204801	broad.mit.edu	37	19	56300200	56300200	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:56300200C>T	uc010ygf.2	-	10	3539	c.2828G>A	c.(2827-2829)aGc>aAc	p.S943N	NLRP11_uc002qlz.3_Missense_Mutation_p.S790N|NLRP11_uc002qmb.3_Missense_Mutation_p.S844N|NLRP11_uc002qmc.3_Non-coding_Transcript	NM_145007	NP_659444	P59045	NAL11_HUMAN	Homo sapiens NLR family, pyrin domain containing 11 (NLRP11), mRNA.	943							ATP binding			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)		ACAATCTGGGCTGATCAAGCT	0.358000														23			26		0	0	0.009535	0	0
CD163	9332	broad.mit.edu	37	12	7632467	7632467	+	Nonstop_Mutation	SNP	A	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:7632467A>T	uc001qsz.3	-	15	3597	c.3469T>A	c.(3469-3471)Taa>Aaa	p.*1157K	CD163_uc001qta.3_3'UTR|CD163_uc009zfw.2_3'UTR	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	Homo sapiens CD163 molecule (CD163), transcript variant 1, mRNA.	0					acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						TCACTGGGTTATAAATTCCCA	0.388000														29			20		0	0	0.014323	0	0
UGT1A1	54658	broad.mit.edu	37	2	234545447	234545447	+	Silent	SNP	C	T	T	rs142395215	byFrequency	TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:234545447C>T	uc002vur.3	+	0	325	c.279C>T	c.(277-279)ttC>ttT	p.F93F	UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Silent_p.F93F	NM_019075	NP_061948	P22309	UD11_HUMAN	Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A10 (UGT1A10), mRNA.	100					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	TCATGGTTTTCGCCCATGCTC	0.418000														65			60		0	0	0.014410	0	0
IFITM2	10581	broad.mit.edu	37	11	308250	308250	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:308250G>A	uc001lox.4	+	0	144	c.58G>A	c.(58-60)Gag>Aag	p.E20K		NM_006435	NP_006426	Q01629	IFM2_HUMAN	Homo sapiens interferon induced transmembrane protein 2 (1-8D) (IFITM2), mRNA.	20					response to virus|type I interferon-mediated signaling pathway	integral to membrane|plasma membrane	protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4		all_cancers(49;2e-09)|all_epithelial(84;3.36e-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;5.73e-28)|Epithelial(43;3.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.14e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0328)|LUSC - Lung squamous cell carcinoma(625;0.122)		TCCCAACTACGAGATGCTCAA	0.597000														69			58		0	0	0.014410	0	0
MTMR8	55613	broad.mit.edu	37	X	63574672	63574672	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:63574672G>A	uc004dvs.3	-	3	543	c.453C>T	c.(451-453)gcC>gcT	p.A151A	MTMR8_uc011mou.2_Silent_p.A151A	NM_017677	NP_060147	Q96EF0	MTMR8_HUMAN	Homo sapiens myotubularin related protein 8 (MTMR8), mRNA.	151	Myotubularin phosphatase.					nuclear envelope	protein tyrosine phosphatase activity	p.0?(1)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						AGTTTCTGTTGGCATCTGTTA	0.383000														36			24		0	0	0.010818	0	0
SSPO	23145	broad.mit.edu	37	7	149493701	149493701	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:149493701C>T	uc010lpk.3	+	44	6688	c.6688C>T	c.(6688-6690)Ctg>Ttg	p.L2230L		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	2233					cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			ACCGGCACCTCTGTGCCCAGG	0.657000														18			11		0	0	0.008291	0	0
HRG	3273	broad.mit.edu	37	3	186395524	186395524	+	Missense_Mutation	SNP	T	G	G			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:186395524T>G	uc003fqq.3	+	6	1453	c.1430T>G	c.(1429-1431)tTt>tGt	p.F477C		NM_000412	NP_000403	P04196	HRG_HUMAN	Homo sapiens histidine-rich glycoprotein (HRG), mRNA.	477	His/Pro-rich (HRR).				fibrinolysis|platelet activation|platelet degranulation	extracellular region|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding	p.F477L(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(12)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0683)		GAGGCCAATTTTCCCAGCTTC	0.502000														55			37		0	0	0.004289	0	0
LILRA4	23547	broad.mit.edu	37	19	54849831	54849831	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:54849831C>T	uc002qfj.3	-	2	248	c.191G>A	c.(190-192)gGa>gAa	p.G64E	LILRA4_uc002qfi.3_5'UTR	NM_012276	NP_036408	P59901	LIRA4_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4 (LILRA4), mRNA.	64	Ig-like C2-type 1.					integral to membrane	receptor activity	p.G64E(2)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		CATTGAGTTTCCCTCTTTATC	0.542000														50			47		0	0	0.014410	0	0
YY2	404281	broad.mit.edu	37	X	21874647	21874647	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:21874647C>T	uc011mjp.2	+	0	543	c.45C>T	c.(43-45)atC>atT	p.I15I	MBTPS2_uc004dae.3_Intron|MBTPS2_uc010nfr.3_Intron|MBTPS2_uc004dab.2_Intron	NM_206923	NP_996806	O15391	TYY2_HUMAN	Homo sapiens YY2 transcription factor (YY2), mRNA.	15					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|plasma membrane	DNA binding|zinc ion binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(2)	19						ACCTGGAGATCCCGGCAGATA	0.527000														68			65		0	0	0.014410	0	0
ZNF212	7988	broad.mit.edu	37	7	148950696	148950696	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:148950696C>T	uc003wfp.3	+	4	806	c.678C>T	c.(676-678)ggC>ggT	p.G226G		NM_012256	NP_036388	Q9UDV6	ZN212_HUMAN	Homo sapiens zinc finger protein 212 (ZNF212), mRNA.	226					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|identical protein binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|ovary(1)|prostate(1)	9	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)			CACAGGAAGGCCCTGCGGATC	0.507000														35			70		0	0	0.014410	0	0
CEACAM7	1087	broad.mit.edu	37	19	42181356	42181356	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:42181356C>T	uc002ori.1	-	3	784	c.782G>A	c.(781-783)gGg>gAg	p.G261E	CEACAM7_uc010ehx.2_Missense_Mutation_p.G261E|CEACAM7_uc010ehy.1_Missense_Mutation_p.G168E	NM_006890	NP_008821	Q14002	CEAM7_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 7 (CEACAM7), mRNA.	261						anchored to membrane|integral to membrane|plasma membrane		p.A260T(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366)		CAGAGCCATCCCAGCCAGTAC	0.483000														35			20		0	0	0.010504	0	0
DDX27	55661	broad.mit.edu	37	20	47859199	47859199	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr20:47859199C>T	uc002xuh.3	+	18	2339	c.2278C>T	c.(2278-2280)Ctg>Ttg	p.L760L		NM_017895	NP_060365	Q96GQ7	DDX27_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 27 (DDX27), mRNA.	760						nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	45			BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			CAAGAAGGCCCTGAAACAGTA	0.413000														59			44		0	0	0.014410	0	0
GUCY1A2	2977	broad.mit.edu	37	11	106810605	106810605	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:106810605G>A	uc009yxn.1	-	3	1177	c.787C>T	c.(787-789)Cgg>Tgg	p.R263W	GUCY1A2_uc001pjg.1_Missense_Mutation_p.R263W|GUCY1A2_uc010rvo.1_Missense_Mutation_p.R263W	NM_000855	NP_000846	P33402	GCYA2_HUMAN	Homo sapiens guanylate cyclase 1, soluble, alpha 2 (GUCY1A2), transcript variant 2, mRNA.	263					intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding			breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)		ACATCCAGCCGATAGATCTTC	0.463000														7			36		0	0	0.005524	0	0
RAB11FIP4	84440	broad.mit.edu	37	17	29849020	29849020	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr17:29849020C>T	uc002hgn.1	+	5	1075	c.846C>T	c.(844-846)aaC>aaT	p.N282N	RAB11FIP4_uc002hgo.2_Silent_p.N180N	NM_032932	NP_116321	Q86YS3	RFIP4_HUMAN	Homo sapiens RAB11 family interacting protein 4 (class II) (RAB11FIP4), mRNA.	282	Necessary for interaction with RAB11A, subcellular location, homo- or heterooligomerization.				cytokinesis|interspecies interaction between organisms|protein transport	cleavage furrow|endocytic vesicle|midbody|recycling endosome membrane	ADP-ribosylation factor binding|Rab GTPase binding|calcium ion binding|protein homodimerization activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(10;3.62e-13)|all_epithelial(10;0.000387)|all_lung(9;0.0132)|Breast(31;0.014)|all_hematologic(16;0.015)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0259)|Ovarian(249;0.0423)|Lung NSC(157;0.066)				AGAAAATCAACCTGCTCAATG	0.577000														53			36		0	0	0.014410	0	0
OR4N3P	390539	broad.mit.edu	37	15	22413812	22413812	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr15:22413812G>A	uc001yuf.3	+	0	351	c.111G>A	c.(109-111)gtG>gtA	p.V37V	abParts_uc001yuj.2_Intron					Homo sapiens olfactory receptor, family 4, subfamily N, member 3 pseudogene (OR4N3P), non-coding RNA.																		TCCTTGTTGTGATGGCCTTTG	0.493000														84			33		0	0	0.005524	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140754840	140754840	+	Nonsense_Mutation	SNP	C	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:140754840C>A	uc003ljy.2	+	0	1190	c.1190C>A	c.(1189-1191)tCa>tAa	p.S397*	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc011dau.2_Nonsense_Mutation_p.S397*	NM_018919	NP_061742	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 6 (PCDHGA6), transcript variant 1, mRNA.	400	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGGAAAAATCAGTTGGCAAT	0.453000														36			33		2.42023e-17	3.28196e-17	0.003271	1	0
SMAP2	64744	broad.mit.edu	37	1	40879873	40879873	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:40879873C>T	uc001cfj.3	+	5	947	c.532C>T	c.(532-534)Ccg>Tcg	p.P178S	SMAP2_uc010ojh.2_Missense_Mutation_p.P178S|SMAP2_uc001cfk.3_Missense_Mutation_p.P148S|SMAP2_uc021oma.1_Missense_Mutation_p.P173S|SMAP2_uc010oji.2_Missense_Mutation_p.P98S|SMAP2_uc010ojj.2_5'UTR	NM_022733	NP_001185909	Q8WU79	SMAP2_HUMAN	Homo sapiens small ArfGAP2 (SMAP2), transcript variant 1, mRNA.	178	Interaction with clathrin heavy chains (By similarity).				regulation of ARF GTPase activity	cytoplasm|nucleus	ARF GTPase activator activity|zinc ion binding	p.P178P(1)		central_nervous_system(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1)	24	Lung NSC(20;1.56e-05)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.04e-17)			GAAAAGCTCCCCGAAATCCAC	0.423000														5			44		0	0	0.014410	0	0
MUC16	94025	broad.mit.edu	37	19	9065829	9065829	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:9065829G>A	uc002mkp.3	-	2	21821	c.21617C>T	c.(21616-21618)tCc>tTc	p.S7206F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	7208	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.T7205T(1)		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						TGTGGCTTTGGATGTCTCTGA	0.488000														90			74		0	0	0.014410	0	0
NRAS	4893	broad.mit.edu	37	1	115258681	115258681	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:115258681G>A	uc009wgu.3	-	1	355	c.101C>T	c.(100-102)cCc>cTc	p.P34L		NM_002524	NP_002515	P01111	RASN_HUMAN	Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA.	34					Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.P34L(1)|p.D33H(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTCTATGGTGGGATCATATTC	0.473000		50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)				2			47		0	0	0.014410	0	0
MARCO	8685	broad.mit.edu	37	2	119739064	119739064	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:119739064C>T	uc002tln.1	+	8	978	c.846C>T	c.(844-846)ttC>ttT	p.F282F	MARCO_uc010yyf.1_Silent_p.F204F	NM_006770	NP_006761	Q9UEW3	MARCO_HUMAN	Homo sapiens macrophage receptor with collagenous structure (MARCO), mRNA.	282	Collagen-like.		F -> S (in dbSNP:rs6761637).		cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						AAGGTGACTTCGGGAGGCCAG	0.527000														7			7		0	0	0.003080	0	0
CLEC4F	165530	broad.mit.edu	37	2	71046974	71046974	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:71046974G>A	uc002shf.3	-	1	188	c.111C>T	c.(109-111)ctC>ctT	p.L37L	CLEC4F_uc010yqv.1_Silent_p.L37L	NM_173535	NP_775806	Q8N1N0	CLC4F_HUMAN	Homo sapiens C-type lectin domain family 4, member F (CLEC4F), mRNA.	37					endocytosis	integral to membrane	receptor activity|sugar binding	p.R36M(1)		endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	37						TAGCCTGAACGAGCCTCGGTA	0.557000														18			17		0	0	0.010504	0	0
SEZ6L	23544	broad.mit.edu	37	22	26736483	26736483	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr22:26736483G>A	uc003acb.3	+	9	2293	c.2097G>A	c.(2095-2097)ggG>ggA	p.G699G	SEZ6L_uc003acd.3_Silent_p.G699G|SEZ6L_uc011akd.2_Silent_p.G699G|SEZ6L_uc003ace.3_Silent_p.G699G|SEZ6L_uc011akc.2_Silent_p.G699G|SEZ6L_uc003acc.3_Silent_p.G699G|SEZ6L_uc003acf.1_Silent_p.G472G|SEZ6L_uc010gvc.1_Silent_p.G472G	NM_021115	NP_066938	Q9BYH1	SE6L1_HUMAN	Homo sapiens seizure related 6 homolog (mouse)-like (SEZ6L), transcript variant 1, mRNA.	699	CUB 3.					endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						AGTACCTTGGGAACAGTGGCC	0.547000														51			47		0	0	0.014410	0	0
MCF2	4168	broad.mit.edu	37	X	138664631	138664631	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:138664631C>T	uc011mwn.1	-	25	2995	c.2989G>A	c.(2989-2991)Gat>Aat	p.D997N	MCF2_uc004fav.3_Silent_p.*942*|MCF2_uc004fau.3_Silent_p.*926*|MCF2_uc010nsh.2_Missense_Mutation_p.D852N|MCF2_uc011mwm.2_Missense_Mutation_p.D813N|MCF2_uc011mwl.2_Silent_p.*903*|MCF2_uc011mwo.1_Silent_p.*1002*|MCF2_uc004faw.2_Silent_p.*986*	NM_001171878	NP_001165349	P10911	MCF2_HUMAN	Homo sapiens MCF.2 cell line derived transforming sequence (MCF2), transcript variant 5, mRNA.	0					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	Rho guanyl-nucleotide exchange factor activity|protein binding			NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					GTAGCTTCATCAATATAGGAG	0.448000														61			28		0	0	0.003271	0	0
PSG9	5678	broad.mit.edu	37	19	43772255	43772255	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:43772255C>T	uc002owd.4	-	1	210	c.111G>A	c.(109-111)acG>acA	p.T37T	PSG9_uc002owe.4_Silent_p.T37T|PSG9_uc010xwm.2_Silent_p.T37T|PSG9_uc002owf.4_Silent_p.T37T|PSG9_uc002owg.2_Silent_p.T37T	NM_002784	NP_002775	Q00887	PSG9_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 9 (PSG9), mRNA.	37	Ig-like V-type.				female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				GGGCTTCAATCGTGACTTCGG	0.483000														87			76		0	0	0.014410	0	0
OR52D1	390066	broad.mit.edu	37	11	5510719	5510719	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:5510719C>T	uc010qzg.2	+	0	805	c.783C>T	c.(781-783)tcC>tcT	p.S261S	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron	NM_001005163	NP_001005163	Q9H346	O52D1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily D, member 1 (OR52D1), mRNA.	261					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCTTCTTCTCCTTCCTCACCC	0.502000														43			33		0	0	0.003755	0	0
PIK3CG	5294	broad.mit.edu	37	7	106508907	106508907	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:106508907G>A	uc003vdv.4	+	1	986	c.901G>A	c.(901-903)Gaa>Aaa	p.E301K	PIK3CG_uc003vdu.3_Missense_Mutation_p.E301K|PIK3CG_uc003vdw.3_Missense_Mutation_p.E301K	NM_002649	NP_002640	P48736	PK3CG_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, gamma polypeptide (PIK3CG), mRNA.	301					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						CAAGAACGGAGAAGAGATTCA	0.592000														47			15		0	0	0.003163	0	0
GAS2	2620	broad.mit.edu	37	11	22747927	22747927	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:22747927G>A	uc009yie.3	+	3	663	c.357G>A	c.(355-357)tgG>tgA	p.W119*	GAS2_uc001mqm.3_Nonsense_Mutation_p.W119*|GAS2_uc001mqn.3_Non-coding_Transcript|GAS2_uc001mqo.3_Nonsense_Mutation_p.W119*	NM_001143830	NP_808221	O43903	GAS2_HUMAN	Homo sapiens growth arrest-specific 2 (GAS2), transcript variant 3, mRNA.	119	CH.				cell cycle arrest|cellular component disassembly involved in apoptosis|regulation of cell shape	actin filament|cytosol|membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(4)|stomach(1)	24						TCTTATCCTGGTGCCGAGATT	0.393000														38			34		0	0	0.004878	0	0
SYNE2	23224	broad.mit.edu	37	14	64636996	64636996	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr14:64636996C>T	uc001xgl.3	+	93	17281	c.17051C>T	c.(17050-17052)gCt>gTt	p.A5684V	SYNE2_uc001xgm.3_Missense_Mutation_p.A5684V|SYNE2_uc010apy.3_Missense_Mutation_p.A2069V|SYNE2_uc001xgn.3_Missense_Mutation_p.A646V|SYNE2_uc021rui.1_Missense_Mutation_p.A604V|SYNE2_uc001xgo.3_Non-coding_Transcript|SYNE2_uc010aqa.3_5'UTR|SYNE2_uc001xgq.3_Missense_Mutation_p.A49V	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA.	5684					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	SUN-KASH complex|Z disc|cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TGGCAGAATGCTGTCCAGGGT	0.463000														63			42		0	0	0.014410	0	0
SLC6A1	6529	broad.mit.edu	37	3	11067521	11067521	+	Silent	SNP	C	T	T	rs35450949	byFrequency	TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:11067521C>T	uc010hdq.3	+	8	1323	c.912C>T	c.(910-912)atC>atT	p.I304I		NM_003042	NP_003033	P30531	SC6A1_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, GABA), member 1 (SLC6A1), mRNA.	304					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Cocaine(DB00907)|Tiagabine(DB00906)	GGTCCCTGATCGCTCTCGGGA	0.532000														53			38		0	0	0.006999	0	0
ODZ1	10178	broad.mit.edu	37	X	123785911	123785911	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:123785911C>T	uc010nqy.3	-	7	1496	c.1432G>A	c.(1432-1434)Gat>Aat	p.D478N	ODZ1_uc011muj.2_Missense_Mutation_p.D477N|ODZ1_uc004euj.3_Missense_Mutation_p.D478N	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA.	478					immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			NS(4)|breast(7)|cervix(3)|endometrium(23)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(36)|liver(1)|lung(93)|ovary(13)|pancreas(3)|prostate(2)|skin(10)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	212						TGCTGTGTATCATCAGAGCCC	0.433000														59			29		0	0	0.008361	0	0
FNDC1	84624	broad.mit.edu	37	6	159654123	159654123	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr6:159654123G>A	uc010kjv.3	+	10	2779	c.2579G>A	c.(2578-2580)aGg>aAg	p.R860K	FNDC1_uc010kjw.1_Missense_Mutation_p.R745K	NM_032532	NP_115921	Q4ZHG4	FNDC1_HUMAN	Homo sapiens fibronectin type III domain containing 1 (FNDC1), mRNA.	860						extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		GCCCACCCCAGGGTTCCCTCT	0.622000														0			3		0	0	0.000602	0	0
MTTP	4547	broad.mit.edu	37	4	100529971	100529971	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr4:100529971G>A	uc011cej.2	+	11	1700	c.1687G>A	c.(1687-1689)Gaa>Aaa	p.E563K	MTTP_uc003hvc.4_Missense_Mutation_p.E536K	NM_000253	NP_000244	P55157	MTP_HUMAN	Homo sapiens microsomal triglyceride transfer protein (MTTP), mRNA.	536	Vitellogenin.				lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)	TAAAGTTCATGAAAAGACTGT	0.398000														49			24		0	0	0.002780	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125555733	125555733	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:125555733C>T	uc010flu.3	+	18	3417	c.3053C>T	c.(3052-3054)cCt>cTt	p.P1018L	CNTNAP5_uc002tno.3_Missense_Mutation_p.P1017L	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	Homo sapiens contactin associated protein-like 5 (CNTNAP5), mRNA.	1017	Laminin G-like 4.				cell adhesion|signal transduction	integral to membrane	receptor binding	p.P1017H(4)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		GAACCCTATCCTGTGACCAAG	0.443000														13			13		0	0	0.004990	0	0
RASAL1	8437	broad.mit.edu	37	12	113553507	113553507	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:113553507G>A	uc001tun.2	-	10	1237	c.936C>T	c.(934-936)ctC>ctT	p.L312L	RASAL1_uc010syp.2_Silent_p.L312L|RASAL1_uc001tul.3_Silent_p.L312L|RASAL1_uc001tum.2_Silent_p.L312L|RASAL1_uc010syq.2_Silent_p.L312L|RASAL1_uc001tuo.4_Silent_p.L312L|RASAL1_uc010syr.2_Silent_p.L312L	NM_001193520	NP_001180449	O95294	RASL1_HUMAN	Homo sapiens RAS protein activator like 1 (GAP1 like) (RASAL1), transcript variant 1, mRNA.	312	Ras-GAP.				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|metal ion binding|phospholipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						GGCCAAGAAAGAGTTTCACCA	0.647000														22			16		0	0	0.006122	0	0
HECW2	57520	broad.mit.edu	37	2	197086952	197086952	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:197086952C>T	uc002utm.1	-	23	4312	c.4129G>A	c.(4129-4131)Gaa>Aaa	p.E1377K	HECW2_uc002utl.1_Missense_Mutation_p.E1021K	NM_020760	NP_065811	Q9P2P5	HECW2_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 (HECW2), mRNA.	1377	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						AATACTTCTTCGTTCACAGTG	0.453000														31			30		0	0	0.009535	0	0
CCP110	9738	broad.mit.edu	37	16	19548169	19548169	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr16:19548169C>T	uc002dgl.4	+	3	1425	c.1178C>T	c.(1177-1179)cCa>cTa	p.P393L	CCP110_uc002dgk.4_Missense_Mutation_p.P393L	NM_001199022	NP_001185951	O43303	CP110_HUMAN	Homo sapiens centriolar coiled coil protein 110kDa (CCP110), transcript variant 1, mRNA.	393	Interaction with CEP76.				G2/M transition of mitotic cell cycle|centriole replication|regulation of cytokinesis	centriole|cytosol	protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|stomach(3)|urinary_tract(1)	21						ATAAATAACCCAATAAATGCC	0.383000														16			13		0	0	0.002450	0	0
PSG8	440533	broad.mit.edu	37	19	43259341	43259341	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:43259341C>T	uc002ouo.2	-	3	885	c.787G>A	c.(787-789)Gaa>Aaa	p.E263K	PSG3_uc002ouf.3_Intron|PSG3_uc002oug.1_Intron|PSG8_uc010eim.3_Intron|PSG8_uc002ouh.3_Missense_Mutation_p.E263K|PSG8_uc010ein.3_Missense_Mutation_p.E141K|PSG3_uc002oun.3_Intron	NM_182707	NP_874366	Q9UQ74	PSG8_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 8 (PSG8), transcript variant 1, mRNA.	263	Ig-like C2-type 2.					extracellular region				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				CTCTTAGGTTCACAGGTGAAG	0.473000														90			99		0	0	0.014410	0	0
PLCE1	51196	broad.mit.edu	37	10	95791437	95791437	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr10:95791437G>A	uc001kjk.3	+	1	1268	c.634G>A	c.(634-636)Gat>Aat	p.D212N	PLCE1_uc010qnx.2_Missense_Mutation_p.D212N	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN	Homo sapiens phospholipase C, epsilon 1 (PLCE1), transcript variant 1, mRNA.	212					Ras protein signal transduction|activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of cell growth|regulation of smooth muscle contraction	Golgi membrane|cytosol|membrane fraction|plasma membrane	Ras GTPase binding|calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|receptor signaling protein activity	p.D212N(1)		liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				AATTTTAGACGATTGTGGAAA	0.388000														33			22		0	0	0.014323	0	0
KCNB2	9312	broad.mit.edu	37	8	73849880	73849880	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr8:73849880G>A	uc003xzb.3	+	2	2878	c.2290G>A	c.(2290-2292)Gga>Aga	p.G764R		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA.	764					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	p.Q763K(1)|p.Q763H(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			CCCCTCCCAGGGAGACAGACC	0.582000														48			33		0	0	0.003271	0	0
KNTC1	9735	broad.mit.edu	37	12	123060103	123060103	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:123060103C>T	uc001ucv.3	+	27	2559	c.2396C>T	c.(2395-2397)gCc>gTc	p.A799V	KNTC1_uc010taf.2_Intron	NM_014708	NP_055523	P50748	KNTC1_HUMAN	Homo sapiens kinetochore associated 1 (KNTC1), mRNA.	799					cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		ATATTTGATGCCGTGCTCAAG	0.488000														3			4		0	0	0.000602	0	0
PLEKHA4	57664	broad.mit.edu	37	19	49348810	49348810	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:49348810G>A	uc002pkx.3	-	14	2181	c.1630C>T	c.(1630-1632)Cct>Tct	p.P544S	PLEKHA4_uc010eml.3_Missense_Mutation_p.P519S	NM_020904	NP_065955	Q9H4M7	PKHA4_HUMAN	Homo sapiens pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4 (PLEKHA4), transcript variant 1, mRNA.	544						cytoplasm|membrane	1-phosphatidylinositol binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	30		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)		TCGCCTCCAGGAGGCCGCCCC	0.577000														35			32		0	0	0.003271	0	0
GYS2	2998	broad.mit.edu	37	12	21693416	21693416	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:21693416G>A	uc001rfb.3	-	13	1992	c.1737C>T	c.(1735-1737)cgC>cgT	p.R579R		NM_021957	NP_068776	P54840	GYS2_HUMAN	Homo sapiens glycogen synthase 2 (liver) (GYS2), mRNA.	579					glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus	cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction	glycogen (starch) synthase activity|protein homodimerization activity	p.R579H(1)		NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						TCCTTTGGCGGCGTGACTGTT	0.438000														77			72		0	0	0.014410	0	0
KRT16	3868	broad.mit.edu	37	17	39768556	39768556	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr17:39768556C>T	uc002hxg.4	-	0	524	c.385G>A	c.(385-387)Gcc>Acc	p.A129T	JUP_uc010wfs.2_Intron|KRT16_uc021txm.1_Missense_Mutation_p.A129T	NM_005557	NP_005548	P08779	K1C16_HUMAN	Homo sapiens keratin 16 (KRT16), mRNA.	129	Coil 1A.|Rod.				cell proliferation|epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Breast(137;0.000307)				AGGTAGGAGGCCAGGCGGTCA	0.597000														40			36		0	0	0.014410	0	0
KIR2DL1	3802	broad.mit.edu	37	19	55294968	55294968	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:55294968G>A	uc010erz.1	+	7	964	c.926G>A	c.(925-927)gGa>gAa	p.G309E	KIR3DL2_uc010yfj.2_Intron|KIR3DL2_uc010yfk.1_Intron|KIR3DL2_uc010yfl.2_5'Flank|KIR3DL2_uc021vbm.1_5'Flank|KIR2DL1_uc010erw.1_Missense_Mutation_p.G284E|KIR2DL1_uc002qgz.1_Missense_Mutation_p.G193E|KIR2DL1_uc002qhb.1_Missense_Mutation_p.G283E	NM_014218	NP_055033	P43626	KI2L1_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 (KIR2DL1), mRNA.	283					immune response|natural killer cell inhibitory signaling pathway	integral to plasma membrane	protein binding|receptor activity	p.C308C(1)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17				GBM - Glioblastoma multiforme(193;0.0192)		GAGTCTGCAGGAAACAGAACA	0.517000														3			35		0	0	0.007835	0	0
DPEP3	64180	broad.mit.edu	37	16	68011631	68011631	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr16:68011631C>T	uc002evc.4	-	5	1027	c.933G>A	c.(931-933)gtG>gtA	p.V311V	DPEP3_uc010cex.3_Silent_p.V311V	NM_022357	NP_071752	Q9H4B8	DPEP3_HUMAN	Homo sapiens dipeptidase 3 (DPEP3), transcript variant 1, mRNA.	286					meiosis	anchored to membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity			breast(4)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	20		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0117)|Epithelial(162;0.0481)|all cancers(182;0.236)		GGGAGAAGATCACAGGAGCCT	0.498000														9			11		0	0	0.013537	0	0
CCNJ	54619	broad.mit.edu	37	10	97816608	97816608	+	Missense_Mutation	SNP	T	C	C			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr10:97816608T>C	uc010qoq.2	+	3	790	c.431T>C	c.(430-432)cTt>cCt	p.L144P	LOC728558_uc001klg.2_Intron|LOC728558_uc001klj.2_Intron|CCNJ_uc001klm.3_Missense_Mutation_p.L144P|CCNJ_uc001kln.3_Missense_Mutation_p.L144P	NM_001134375	NP_001127847	Q5T5M9	CCNJ_HUMAN	Homo sapiens cyclin J (CCNJ), transcript variant 1, mRNA.	144						nucleus				breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	11				Epithelial(162;6.1e-08)|all cancers(201;2.32e-06)		AACCTCTGCCTTCCAACAGCC	0.378000														43			46		0	0	0.014410	0	0
LPO	4025	broad.mit.edu	37	17	56332262	56332262	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr17:56332262G>A	uc002ivt.3	+	8	1512	c.1196G>A	c.(1195-1197)aGa>aAa	p.R399K	LPO_uc010wns.2_Missense_Mutation_p.R340K|LPO_uc010dcp.3_Missense_Mutation_p.R316K|LPO_uc010dcq.3_Missense_Mutation_p.R70K|LPO_uc010dcr.3_5'UTR	NM_006151	NP_006142	P22079	PERL_HUMAN	Homo sapiens lactoperoxidase (LPO), transcript variant 1, mRNA.	399					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						GAACTAAAGAGACTCAACCCT	0.572000														78			53		0	0	0.014410	0	0
VANGL1	81839	broad.mit.edu	37	1	116225035	116225035	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:116225035C>T	uc001efv.1	+	4	1134	c.863C>T	c.(862-864)aCc>aTc	p.T288I	VANGL1_uc009wgy.1_Missense_Mutation_p.T286I|VANGL1_uc021ose.1_Missense_Mutation_p.T288I	NM_138959	NP_620409	Q8TAA9	VANG1_HUMAN	Homo sapiens vang-like 1 (van gogh, Drosophila) (VANGL1), transcript variant 1, mRNA.	288					multicellular organismal development	integral to membrane	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(13)|urinary_tract(1)	27	Lung SC(450;0.211)	all_cancers(81;1.24e-06)|all_epithelial(167;1.02e-06)|all_lung(203;7.95e-06)|Lung NSC(69;4.97e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		AAAGATTTCACCATCTATAAC	0.418000														4			62		0	0	0.014410	0	0
SKAP1	8631	broad.mit.edu	37	17	46257444	46257444	+	Missense_Mutation	SNP	T	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr17:46257444T>A	uc002ini.1	-	8	910	c.798A>T	c.(796-798)gaA>gaT	p.E266D	SKAP1_uc002inj.1_Missense_Mutation_p.E266D|SKAP1_uc010dbd.1_Missense_Mutation_p.E172D|SKAP1_uc010dbe.1_Missense_Mutation_p.E266D	NM_003726	NP_003717	Q86WV1	SKAP1_HUMAN	Homo sapiens src kinase associated phosphoprotein 1 (SKAP1), transcript variant 1, mRNA.	266					T cell receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus|plasma membrane	SH2 domain binding|antigen binding|protein kinase binding			large_intestine(1)|lung(10)|prostate(2)|skin(4)|urinary_tract(1)	18						TATCTTCTTCTTCTTTCTCCT	0.408000														57			38		0	0	0.009718	0	0
DOCK2	1794	broad.mit.edu	37	5	169081436	169081436	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:169081436C>T	uc003maf.3	+	1	153	c.73C>T	c.(73-75)Ccc>Tcc	p.P25S	DOCK2_uc011der.2_Non-coding_Transcript	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	Homo sapiens dedicator of cytokinesis 2 (DOCK2), mRNA.	25	SH3.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	GTP binding|GTPase binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding|electron carrier activity|heme binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CAGCGGAGCCCCCCAGCTCTC	0.557000														27			22		0	0	0.003954	0	0
VPS18	57617	broad.mit.edu	37	15	41192240	41192240	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr15:41192240C>T	uc001zne.3	+	3	1563	c.1224C>T	c.(1222-1224)ttC>ttT	p.F408F		NM_020857	NP_065908	Q9P253	VPS18_HUMAN	Homo sapiens vacuolar protein sorting 18 homolog (S. cerevisiae) (VPS18), mRNA.	408					endosome organization|lysosome organization|protein transport	HOPS complex|late endosome membrane|lysosomal membrane	metal ion binding|protein binding	p.R407C(1)		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)		TGAACCGCTTCGATCTGGCCA	0.632000														51			53		0	0	0.014410	0	0
PRB3	5544	broad.mit.edu	37	12	11420906	11420906	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:11420906G>A	uc001qzs.3	-	2	315	c.277C>T	c.(277-279)Cca>Tca	p.P93S	PRB4_uc001qzf.1_Intron	NM_006249	NP_006240	Q04118	PRB3_HUMAN	Homo sapiens proline-rich protein BstNI subfamily 3 (PRB3), mRNA.	93	10 X 21 AA tandem repeats of [RH]-P-G-K- P-[EQ]-G-[PQS]-P-[PS]-Q-[GE]-G-N-[QK]- [SP]-[QR]-[GR]-P-P-P.|Pro-rich.					extracellular region	Gram-negative bacterial cell surface binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			GGACGAGGTGGGGGACCTTGG	0.632000														135			111		0	0	0.014410	0	0
KRT6A	3853	broad.mit.edu	37	12	52881690	52881690	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:52881690G>A	uc001sam.3	-	8	1718	c.1509C>T	c.(1507-1509)gtC>gtT	p.V503V		NM_005554	NP_005545	P02538	K2C6A_HUMAN	Homo sapiens keratin 6A (KRT6A), mRNA.	503	Tail.				cell differentiation|ectoderm development|positive regulation of cell proliferation	keratin filament	protein binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39				BRCA - Breast invasive adenocarcinoma(357;0.189)		AGCCACTGCCGACACCACTGG	0.607000														21			16		0	0	0.010504	0	0
TRPC3	7222	broad.mit.edu	37	4	122846350	122846350	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr4:122846350C>T	uc003ieg.2	-	2	1073	c.999G>A	c.(997-999)cgG>cgA	p.R333R	TRPC3_uc010inr.2_Silent_p.R260R|TRPC3_uc003ief.2_Silent_p.R260R|TRPC3_uc011cgl.1_5'UTR	NM_001130698	NP_001124170	Q13507	TRPC3_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 3 (TRPC3), transcript variant 1, mRNA.	248					axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						TGGAGAGCTTCCGATAGTCAT	0.398000														32			26		0	0	0.003954	0	0
GLTSCR2	29997	broad.mit.edu	37	19	48253490	48253491	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:48253490_48253491CC>TT	uc002phm.2	+	2	369_370	c.345_346CC>TT	c.(343-348)cccctt>ccTTtt	p.L116F	GLTSCR2_uc010elk.1_5'Flank	NM_015710	NP_056525	Q9NZM5	GSCR2_HUMAN	Homo sapiens glioma tumor suppressor candidate region gene 2 (GLTSCR2), mRNA.	116						nucleolus		p.L116I(2)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	15		all_cancers(25;1.47e-06)|all_lung(116;6.89e-05)|all_epithelial(76;0.000108)|Lung NSC(112;0.000117)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000301)|OV - Ovarian serous cystadenocarcinoma(262;0.00031)|Epithelial(262;0.0149)|GBM - Glioblastoma multiforme(486;0.0278)		TCAAGAAACCCCTTCGGGTTGA	0.530000														19			16		0	0	0.004672	0	0
FHL1	2273	broad.mit.edu	37	X	135289978	135289978	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:135289978C>T	uc004ezo.3	+	4	688	c.359C>T	c.(358-360)aCc>aTc	p.T120I	FHL1_uc010nrz.2_Missense_Mutation_p.T120I|FHL1_uc004ezq.2_Missense_Mutation_p.T120I|FHL1_uc004ezm.2_Intron|FHL1_uc004ezl.2_Missense_Mutation_p.T120I|FHL1_uc011mvy.1_Missense_Mutation_p.T120I|FHL1_uc004ezn.2_Missense_Mutation_p.T120I|FHL1_uc022ceu.1_Missense_Mutation_p.T120I|FHL1_uc011mwa.1_Missense_Mutation_p.T149I|FHL1_uc011mwb.1_Non-coding_Transcript|FHL1_uc004ezp.2_Missense_Mutation_p.T136I|FHL1_uc004ezr.2_5'UTR	NM_001159702	NP_001153174	Q13642	FHL1_HUMAN	Homo sapiens four and a half LIM domains 1 (FHL1), transcript variant 1, mRNA.	120	LIM zinc-binding 2.				cell differentiation|cell growth|muscle organ development|organ morphogenesis	cytosol|nucleus|plasma membrane	protein binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(192;0.000127)					TACAAGGGGACCGTCTGGCAC	0.557000														39			17		0	0	0.007413	0	0
TMEM132B	114795	broad.mit.edu	37	12	125834317	125834317	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:125834317C>T	uc001uhe.1	+	1	380	c.372C>T	c.(370-372)atC>atT	p.I124I	TMEM132B_uc021rgl.1_Silent_p.I14I	NM_052907	NP_443139	Q14DG7	T132B_HUMAN	Homo sapiens transmembrane protein 132B (TMEM132B), mRNA.	124						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		AATCCCACATCCTTGACAGCT	0.468000														57			60		0	0	0.014410	0	0
BEND2	139105	broad.mit.edu	37	X	18219951	18219951	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:18219951G>A	uc004cyj.4	-	5	1171	c.1017C>T	c.(1015-1017)ttC>ttT	p.F339F	BEND2_uc010nfb.2_Intron	NM_153346	NP_699177	Q8NDZ0	BEND2_HUMAN	Homo sapiens BEN domain containing 2 (BEND2), transcript variant 1, mRNA.	339								p.V338L(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						AGGGAGGGATGAAGACAGATA	0.448000														45			33		0	0	0.004878	0	0
MYLK	4638	broad.mit.edu	37	3	123512533	123512533	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:123512533G>A	uc003ego.3	-	3	438	c.156C>T	c.(154-156)ttC>ttT	p.F52F	MYLK_uc011bjw.2_Silent_p.F52F|MYLK_uc003egp.3_Silent_p.F52F|MYLK_uc003egq.3_Silent_p.F52F|MYLK_uc003egr.3_Silent_p.F52F|MYLK_uc003egs.3_5'UTR|MYLK_uc010hrs.1_Silent_p.F52F|MYLK_uc003egu.1_Silent_p.F62F	NM_053025	NP_444253	Q15746	MYLK_HUMAN	Homo sapiens myosin light chain kinase (MYLK), transcript variant 1, mRNA.	52	Ig-like C2-type 1.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	ATP binding|actin binding|calmodulin binding|metal ion binding|myosin light chain kinase activity	p.F52F(4)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CCCGCCCTTCGAACTTGGCGG	0.602000														22			22		0	0	0.003954	0	0
LTBP1	4052	broad.mit.edu	37	2	33500955	33500955	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:33500955G>A	uc021vft.1	+	17	2980	c.2957G>A	c.(2956-2958)aGc>aAc	p.S986N	LTBP1_uc002rou.3_Missense_Mutation_p.S660N|LTBP1_uc002rov.3_Missense_Mutation_p.S607N|LTBP1_uc010ymz.2_Missense_Mutation_p.S660N|LTBP1_uc010yna.2_Missense_Mutation_p.S607N	NM_206943	NP_996826	Q14766	LTBP1_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 1 (LTBP1), transcript variant 1, mRNA.	986	EGF-like 6; calcium-binding (Potential).				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				TACTGTGACAGCGGGTACCGC	0.577000														46			34		0	0	0.013726	0	0
PSG5	5673	broad.mit.edu	37	19	43679591	43679591	+	Missense_Mutation	SNP	G	A	A	rs144866823		TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:43679591G>A	uc002ovu.3	-	3	871	c.740C>T	c.(739-741)tCa>tTa	p.S247L	PSG4_uc010xwk.1_Intron|PSG5_uc002ovx.3_Missense_Mutation_p.S247L	NM_002781	NP_002772	Q15238	PSG5_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 5 (PSG5), transcript variant 1, mRNA.	247	Ig-like C2-type 2.				female pregnancy	extracellular region		p.S247L(2)		breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				ATAGGTGAATGAAGGGTAAAT	0.483000														106			88		0	0	0.014410	0	0
OR5P3	120066	broad.mit.edu	37	11	7847181	7847181	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:7847181G>A	uc010rbg.2	-	0	339	c.339C>T	c.(337-339)ttC>ttT	p.F113F		NM_153445	NP_703146	Q8WZ94	OR5P3_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily P, member 3 (OR5P3), mRNA.	113					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	15				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CAGCCAGCAGGAAGCACTCGG	0.547000														54			42		0	0	0.013114	0	0
CDH9	1007	broad.mit.edu	37	5	26890572	26890572	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:26890572G>A	uc003jgs.1	-	7	1524	c.1355C>T	c.(1354-1356)cCt>cTt	p.P452L	CDH9_uc011cnv.1_Missense_Mutation_p.P45L	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN	Homo sapiens cadherin 9, type 2 (T1-cadherin) (CDH9), mRNA.	452	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						GTTATGCCAAGGAGATGATTC	0.398000														47			25		0	0	0.004656	0	0
GPR123	84435	broad.mit.edu	37	10	134906696	134906696	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr10:134906696C>T	uc001llw.3	+	9	1967	c.1967C>T	c.(1966-1968)tCc>tTc	p.S656F	GPR123_uc001llx.4_Intron			Q86SQ6	GP123_HUMAN	Homo sapiens G protein-coupled receptor 123 (GPR123), mRNA.	217						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		GAGGAAGATTCCTTCAGGCAG	0.542000														4			9		0	0	0.004482	0	0
CCDC38	120935	broad.mit.edu	37	12	96292419	96292419	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:96292419G>A	uc001tek.2	-	5	694	c.460C>T	c.(460-462)Ctc>Ttc	p.L154F		NM_182496	NP_872302	Q502W7	CCD38_HUMAN	Homo sapiens coiled-coil domain containing 38 (CCDC38), mRNA.	154								p.L154I(2)		breast(1)|endometrium(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TCATCTTGGAGCTTTTTCTCT	0.403000														40			52		0	0	0.014410	0	0
HEG1	57493	broad.mit.edu	37	3	124731581	124731581	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:124731581G>A	uc011bke.2	-	6	3210	c.3142C>T	c.(3142-3144)Cct>Tct	p.P1048S	HEG1_uc003ehs.4_Missense_Mutation_p.P948S	NM_020733	NP_065784	Q9ULI3	HEG1_HUMAN	Homo sapiens HEG homolog 1 (zebrafish) (HEG1), mRNA.	948	EGF-like 2; calcium-binding (Potential).					extracellular region|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						TGGGGAGAAGGAGATGTTCCG	0.512000														8			18		0	0	0.004990	0	0
HCRTR2	3062	broad.mit.edu	37	6	55147023	55147023	+	Splice_Site	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr6:55147023G>A	uc003pcl.3	+	7	1421	c.1106_splice	c.e7-1	p.G369_splice	HCRTR2_uc010jzv.3_Splice_Site	NM_001526	NP_001517	O43614	OX2R_HUMAN	Homo sapiens hypocretin (orexin) receptor 2 (HCRTR2), mRNA.	369					feeding behavior	integral to plasma membrane	neuropeptide receptor activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			TGTTTGCCAGGAAAATTTCGA	0.438000														9			7		0	0	0.004482	0	0
KIAA1217	56243	broad.mit.edu	37	10	24816960	24816960	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr10:24816960C>T	uc001iru.4	+	13	3397	c.2994C>T	c.(2992-2994)atC>atT	p.I998I	KIAA1217_uc001irs.3_Silent_p.I918I|KIAA1217_uc001irt.4_Silent_p.I963I|KIAA1217_uc010qcy.2_Silent_p.I963I|KIAA1217_uc010qcz.2_Silent_p.I963I|KIAA1217_uc010qda.1_Non-coding_Transcript|KIAA1217_uc001irw.3_Silent_p.I681I|KIAA1217_uc001irz.3_Silent_p.I681I|KIAA1217_uc001irx.3_Silent_p.I681I|KIAA1217_uc001iry.3_Silent_p.I681I	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA.	998					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						AGGCCAATATCATGAAGTCAA	0.478000														46			40		0	0	0.009718	0	0
FOXN4	121643	broad.mit.edu	37	12	109723114	109723114	+	Missense_Mutation	SNP	T	C	C			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:109723114T>C	uc001toe.4	-	7	1001	c.896A>G	c.(895-897)aAc>aGc	p.N299S	FOXN4_uc009zvg.3_Missense_Mutation_p.N96S|FOXN4_uc001tof.4_Missense_Mutation_p.N119S	NM_213596	NP_998761	Q96NZ1	FOXN4_HUMAN	Homo sapiens forkhead box N4 (FOXN4), mRNA.	299					axon extension|embryo development|organ development|pattern specification process|regulation of heart contraction|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			large_intestine(5)|lung(9)|ovary(2)	16						CTCACCAGGGTTGGCCATACT	0.617000														7			3		0	0	0.009096	0	0
DSCAM	1826	broad.mit.edu	37	21	41711215	41711215	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr21:41711215C>T	uc002yyq.1	-	6	1790	c.1338G>A	c.(1336-1338)ccG>ccA	p.P446P	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	446	Ig-like C2-type 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)				CCTTGAGAATCGGGTCATCGT	0.582000														21			15		0	0	0.004007	0	0
OR2H1	26716	broad.mit.edu	37	6	29429826	29429827	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr6:29429826_29429827GG>AA	uc003nmi.3	+	2	723_724	c.280_281GG>AA	c.(280-282)gga>AAa	p.G94K	OR2H1_uc003nmj.1_Missense_Mutation_p.G94K|OR2H1_uc010jri.2_Missense_Mutation_p.G16K|OR2H1_uc021ytr.1_Missense_Mutation_p.G94K	NM_030883	NP_112145	Q9GZK4	OR2H1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily H, member 1 (OR2H1), mRNA.	94					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(5)|lung(12)	17						CAGCTTCCTGGGATGCTCTGTC	0.569000														72			32		0	0	0.004672	0	0
MECOM	2122	broad.mit.edu	37	3	168819869	168819869	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:168819869C>T	uc011bpj.1	-	10	3153	c.2750G>A	c.(2749-2751)gGa>gAa	p.G917E	MECOM_uc010hwk.1_Missense_Mutation_p.G743E|MECOM_uc003ffj.3_Missense_Mutation_p.G794E|MECOM_uc003ffi.3_Missense_Mutation_p.G729E|MECOM_uc011bpi.1_Missense_Mutation_p.G721E|MECOM_uc003ffn.3_Missense_Mutation_p.G729E|MECOM_uc003ffk.2_Missense_Mutation_p.G720E|MECOM_uc003ffl.2_Missense_Mutation_p.G880E|MECOM_uc011bpk.1_Missense_Mutation_p.G729E|MECOM_uc010hwn.2_Missense_Mutation_p.G908E	NM_004991	NP_004982	Q13465	MDS1_HUMAN	Homo sapiens MDS1 and EVI1 complex locus (MECOM), transcript variant 4, mRNA.	0							sequence-specific DNA binding transcription factor activity	p.V917V(1)		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						GCGCTCCTTTCCCTTCCGCAG	0.502000														25			24		0	0	0.004656	0	0
SCCPDH	51097	broad.mit.edu	37	1	246903475	246903475	+	Splice_Site	SNP	T	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:246903475T>A	uc001ibr.3	+	4	732	c.385_splice	c.e4-1	p.F129_splice		NM_016002	NP_057086	Q8NBX0	SCPDH_HUMAN	Homo sapiens saccharopine dehydrogenase (putative) (SCCPDH), mRNA.	129						midbody	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(9)|ovary(1)	17	all_cancers(71;6.8e-05)|all_epithelial(71;7.93e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0545)|Lung NSC(105;0.0618)	all_cancers(173;0.0343)	OV - Ovarian serous cystadenocarcinoma(106;0.00323)	GBM - Glioblastoma multiforme(49;0.0896)		ATTTTTTAGTTTCTGGAACTA	0.343000														2			105		0	0	0.014410	0	0
SLC5A6	8884	broad.mit.edu	37	2	27427440	27427440	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:27427440G>A	uc010eyv.1	-	9	1216	c.894C>T	c.(892-894)ttC>ttT	p.F298F	SLC5A6_uc002rjd.3_Silent_p.F298F	NM_021095	NP_066918	Q9Y289	SC5A6_HUMAN	Homo sapiens solute carrier family 5 (sodium-dependent vitamin transporter), member 6 (SLC5A6), transcript variant 1, mRNA.	298					biotin metabolic process|pantothenate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent multivitamin transmembrane transporter activity			endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(3)|prostate(1)|skin(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Biotin(DB00121)|Lipoic Acid(DB00166)	GCTGGAAGGGGAACACTGCAT	0.577000														20			17		0	0	0.008871	0	0
LILRB5	10990	broad.mit.edu	37	19	54760034	54760034	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:54760034G>A	uc010yer.1	-	3	611	c.500C>T	c.(499-501)tCc>tTc	p.S167F	LILRB3_uc002qew.2_Intron|LILRB5_uc002qey.3_Missense_Mutation_p.S176F|LILRB5_uc002qez.3_Intron|LILRB5_uc002qex.3_Missense_Mutation_p.S176F|LILRB5_uc002qfa.1_Intron|LILRB5_uc010yes.1_Intron			O75023	LIRB5_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5 (LILRB5), transcript variant 1, mRNA.	176	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CAGGGCCTGGGATGGCCCTTT	0.552000														28			26		0	0	0.005443	0	0
OTOF	9381	broad.mit.edu	37	2	26691317	26691317	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:26691317C>T	uc002rhk.3	-	32	4176	c.4049G>A	c.(4048-4050)gGa>gAa	p.G1350E	OTOF_uc010yla.2_Missense_Mutation_p.G80E|OTOF_uc002rhh.3_Missense_Mutation_p.G583E|OTOF_uc002rhi.3_Missense_Mutation_p.G660E|OTOF_uc002rhj.3_Missense_Mutation_p.G583E	NM_194248	NP_919224	Q9HC10	OTOF_HUMAN	Homo sapiens otoferlin (OTOF), transcript variant 1, mRNA.	1350					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			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)					CAAGTCAATTCCAGAGGGCTC	0.562000														39			31		0	0	0.006230	0	0
SERPINA11	256394	broad.mit.edu	37	14	94912826	94912826	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr14:94912826G>A	uc001ydd.1	-	2	819	c.759C>T	c.(757-759)ttC>ttT	p.F253F		NM_001080451	NP_001073920	Q86U17	SPA11_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11 (SERPINA11), mRNA.	253					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(14)|skin(1)|upper_aerodigestive_tract(1)	24				COAD - Colon adenocarcinoma(157;0.211)		GGTCATAGAGGAATCTGTGCA	0.517000														50			51		0	0	0.014410	0	0
GLIS3	169792	broad.mit.edu	37	9	3932396	3932396	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr9:3932396C>T	uc003zhx.1	-	5	2660	c.1947G>A	c.(1945-1947)aaG>aaA	p.K649K	GLIS3_uc010mhf.1_Silent_p.K43K|GLIS3_uc003zhv.1_Non-coding_Transcript|GLIS3_uc003zhw.1_Silent_p.K494K|GLIS3_uc003zhy.1_Silent_p.K427K|GLIS3_uc003zhz.1_Silent_p.K427K	NM_001042413	NP_001035878	Q8NEA6	GLIS3_HUMAN	Homo sapiens GLIS family zinc finger 3 (GLIS3), transcript variant 1, mRNA.	494					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		AAGAATGTGCCTTCACATGCT	0.378000														57			52		0	0	0.014410	0	0
HAUS2	55142	broad.mit.edu	37	15	42858950	42858950	+	Missense_Mutation	SNP	A	G	G			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr15:42858950A>G	uc001zqe.3	+	5	704	c.644A>G	c.(643-645)gAt>gGt	p.D215G	HAUS2_uc010udi.2_Missense_Mutation_p.D184G|HAUS2_uc001zqf.3_Missense_Mutation_p.D121G	NM_018097	NP_060567	Q9NVX0	HAUS2_HUMAN	Homo sapiens HAUS augmin-like complex, subunit 2 (HAUS2), transcript variant 1, mRNA.	215					G2/M transition of mitotic cell cycle|cell division|centrosome organization|mitosis|spindle assembly	HAUS complex|centrosome|cytosol|microtubule|spindle				endometrium(1)|large_intestine(1)|lung(1)	3						TATAAACATGATATTATAATG	0.318000														19			20		0	0	0.008871	0	0
SYN2	6854	broad.mit.edu	37	3	12183413	12183413	+	Missense_Mutation	SNP	T	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:12183413T>A	uc003bwm.3	+	5	596	c.432T>A	c.(430-432)ttT>ttA	p.F144L	SYN2_uc003bwl.1_Missense_Mutation_p.F144L	NM_133625	NP_598328	Q86VA8	Q86VA8_HUMAN	Homo sapiens synapsin II (SYN2), transcript variant IIa, mRNA.	148					neurotransmitter secretion	synaptic vesicle	ATP binding|ligase activity			breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	18						AGGCAGAATTTTCAGAGCTCA	0.473000														241			204		0	0	0.014410	0	0
MYT1L	23040	broad.mit.edu	37	2	1926650	1926650	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:1926650C>T	uc002qxe.3	-	9	1718	c.891G>A	c.(889-891)atG>atA	p.M297I	MYT1L_uc002qxd.3_Missense_Mutation_p.M297I|MYT1L_uc010ewl.2_Non-coding_Transcript	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN	Homo sapiens myelin transcription factor 1-like (MYT1L), mRNA.	297					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		TGACGTAATTCATATTTCTAC	0.463000														74			68		0	0	0.014410	0	0
TEX19	400629	broad.mit.edu	37	17	80320057	80320057	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr17:80320057G>A	uc002keq.3	+	1	341	c.31G>A	c.(31-33)Gaa>Aaa	p.E11K	TEX19_uc021ufp.1_Missense_Mutation_p.E11K	NM_207459	NP_997342	Q8NA77	TEX19_HUMAN	Homo sapiens testis expressed 19 (TEX19), mRNA.	11						nucleus				breast(1)|endometrium(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1)	6						GCGGTATGAGGAAGAGGGCAT	0.567000														65			52		0	0	0.014410	0	0
GPR174	84636	broad.mit.edu	37	X	78426648	78426648	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:78426648G>A	uc004edg.1	+	0	180	c.144G>A	c.(142-144)atG>atA	p.M48I		NM_032553	NP_115942	Q9BXC1	GP174_HUMAN	Homo sapiens G protein-coupled receptor 174 (GPR174), mRNA.	48						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	38						ATGGTTATATGAAAGAAACAA	0.368000										HNSCC(63;0.18)				9			8		0	0	0.004482	0	0
GABRA3	2556	broad.mit.edu	37	X	151336938	151336938	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:151336938G>A	uc010ntk.1	-	9	1481	c.1241C>T	c.(1240-1242)tCc>tTc	p.S414F		NM_000808	NP_000799	P34903	GBRA3_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 3 (GABRA3), mRNA.	414					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|protein binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6)	37	Acute lymphoblastic leukemia(192;6.56e-05)				Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	GGAGATGGTGGAAAATTCAGT	0.547000														101			145		0	0	0.014410	0	0
AMFR	267	broad.mit.edu	37	16	56423199	56423200	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr16:56423199_56423200CC>TT	uc002eiy.3	-	8	1378_1379	c.1173_1174GG>AA	c.(1171-1176)agggaa>agAAaa	p.E392K	AMFR_uc002eix.3_Intron	NM_001144	NP_001135	Q9UKV5	AMFR2_HUMAN	Homo sapiens autocrine motility factor receptor (AMFR), mRNA.	392					ER-associated protein catabolic process|endoplasmic reticulum unfolded protein response|protein oligomerization|protein polyubiquitination	integral to endoplasmic reticulum membrane|integral to membrane of membrane fraction	protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17						TGATGTTCTTCCCTGACACGAT	0.455000														49			36		0	0	0.004672	0	0
NBPF10	100132406	broad.mit.edu	37	1	144815953	144815953	+	Missense_Mutation	SNP	A	G	G			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:144815953A>G	uc009wig.1	+	10	1512	c.1318A>G	c.(1318-1320)Aat>Gat	p.N440D	NBPF10_uc010oxo.1_Missense_Mutation_p.N442D|NBPF10_uc010oxn.1_Intron|NBPF10_uc021oth.1_Intron|NBPF10_uc021otj.1_Intron|NBPF10_uc021oto.1_Intron|NBPF10_uc021otr.1_Intron|NBPF10_uc021ots.1_Intron|NBPF10_uc021otv.1_Intron|NBPF10_uc001ekk.1_Intron|NBPF10_uc010oyd.1_Intron|NBPF10_uc010oye.2_Intron|NBPF10_uc001eli.3_Non-coding_Transcript|NBPF10_uc009wii.1_Missense_Mutation_p.N171D|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron|NBPF10_uc021ouf.1_Missense_Mutation_p.N102D	NM_001037675	NP_001032764	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 9 (NBPF9), mRNA.	442								p.N184D(2)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		CAACGATGACAATGAAGATGT	0.423000														15			7		0	0	0.004482	0	0
DNAH9	1770	broad.mit.edu	37	17	11608399	11608399	+	Missense_Mutation	SNP	G	A	A	rs149294395	byFrequency	TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr17:11608399G>A	uc002gne.3	+	25	5517	c.5449G>A	c.(5449-5451)Gag>Aag	p.E1817K	DNAH9_uc010coo.3_Missense_Mutation_p.E1111K	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	1817	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)		TTGGGATGACGAGGTCAAACA	0.502000														47			42		0	0	0.010771	0	0
MAPK4	5596	broad.mit.edu	37	18	48190365	48190365	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr18:48190365G>A	uc002lev.3	+	1	1037	c.37G>A	c.(37-39)Ggg>Agg	p.G13R	MAPK4_uc010xdm.2_Intron|MAPK4_uc010doz.3_Missense_Mutation_p.G13R	NM_002747	NP_002738	P31152	MK04_HUMAN	Homo sapiens mitogen-activated protein kinase 4 (MAPK4), mRNA.	13					cell cycle		ATP binding|MAP kinase activity			lung(4)|skin(3)|upper_aerodigestive_tract(1)	8		Colorectal(6;0.0297)		Colorectal(21;0.156)		CAGTGTCTATGGGTATGACCT	0.602000														41			34		0	0	0.004289	0	0
KRT85	3891	broad.mit.edu	37	12	52756740	52756740	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:52756740C>T	uc001sag.3	-	5	1095	c.975G>A	c.(973-975)gtG>gtA	p.V325V		NM_002283	NP_002274	P78386	KRT85_HUMAN	Homo sapiens keratin 85 (KRT85), mRNA.	325	Coil 2.|Rod.				epidermis development	keratin filament	protein binding|structural molecule activity	p.T324T(1)		NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	36	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		CATGCCTGATCACCGTGGCCT	0.582000														29			22		0	0	0.003954	0	0
SCAND3	114821	broad.mit.edu	37	6	28541304	28541304	+	Missense_Mutation	SNP	T	C	C			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr6:28541304T>C	uc003nlo.3	-	3	2980	c.2362A>G	c.(2362-2364)Agt>Ggt	p.S788G		NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN	Homo sapiens SCAN domain containing 3 (SCAND3), mRNA.	788					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						ggttgtgaacttatttcttta	0.328000														44			24		0	0	0.002780	0	0
QRSL1	55278	broad.mit.edu	37	6	107088727	107088727	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr6:107088727C>T	uc003prm.3	+	2	330	c.214C>T	c.(214-216)Cct>Tct	p.P72S	QRSL1_uc003prl.2_Missense_Mutation_p.P72S	NM_018292	NP_060762	Q9H0R6	QRSL1_HUMAN	Homo sapiens glutaminyl-tRNA synthase (glutamine-hydrolyzing)-like 1 (QRSL1), mRNA.	72					translation		ATP binding|carbon-nitrogen ligase activity, with glutamine as amido-N-donor			endometrium(2)|kidney(1)|large_intestine(4)|lung(4)	11	Breast(9;0.0107)|all_epithelial(6;0.14)	all_cancers(87;0.00768)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.248)	Epithelial(6;0.000334)|all cancers(7;0.00157)|BRCA - Breast invasive adenocarcinoma(8;0.00721)|OV - Ovarian serous cystadenocarcinoma(5;0.0152)	BRCA - Breast invasive adenocarcinoma(108;0.118)|all cancers(137;0.167)|Epithelial(106;0.176)		AGATGGAATTCCTATTGCAGT	0.328000														14			131		0	0	0.014410	0	0
FARP1	10160	broad.mit.edu	37	13	99037972	99037972	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr13:99037972G>A	uc001vnh.3	+	7	902	c.663G>A	c.(661-663)cgG>cgA	p.R221R	FARP1_uc001vnj.3_Silent_p.R221R	NM_005766	NP_005757	Q9Y4F1	FARP1_HUMAN	Homo sapiens FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived) (FARP1), transcript variant 1, mRNA.	221	FERM.				regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	Rho guanyl-nucleotide exchange factor activity|cytoskeletal protein binding			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			TTGCCCGTCGGCTAGAGATGT	0.488000														47			48		0	0	0.014410	0	0
OR2L1P	26247	broad.mit.edu	37	1	248153829	248153829	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:248153829G>A	uc001idv.1	+	0	261	c.17G>A	c.(16-18)gGa>gAa	p.G6E	OR2L13_uc001ids.3_Intron					Homo sapiens olfactory receptor, family 2, subfamily L, member 1 pseudogene (OR2L1P), non-coding RNA.											lung(11)	11						TTTCTGTATGGAAACAAGTCT	0.423000														6			248		0	0	0.014410	0	0
CCDC65	85478	broad.mit.edu	37	12	49314977	49314977	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:49314977G>A	uc001rso.3	+	7	1433	c.1206G>A	c.(1204-1206)gaG>gaA	p.E402E		NM_033124	NP_149115	Q8IXS2	CCD65_HUMAN	Homo sapiens coiled-coil domain containing 65 (CCDC65), mRNA.	402										breast(1)|large_intestine(4)|lung(7)|ovary(1)|skin(2)	15						TAGGAATGGAGAATTTCTGGA	0.517000														20			17		0	0	0.008871	0	0
PRKRIR	5612	broad.mit.edu	37	11	76062171	76062171	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:76062171G>A	uc001oxh.1	-	4	2023	c.2023C>T	c.(2023-2025)Cct>Tct	p.P675S	PRKRIR_uc021qnn.1_Missense_Mutation_p.P500S|PRKRIR_uc010rrz.1_Missense_Mutation_p.P500S	NM_004705	NP_004696	O43422	P52K_HUMAN	Homo sapiens protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor) (PRKRIR), mRNA.	675					negative regulation of cell proliferation|response to stress|signal transduction		DNA binding|metal ion binding|protein dimerization activity			cervix(1)|endometrium(3)|large_intestine(4)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	25						TACACATTAGGAAAAAACTTG	0.428000														51			38		0	0	0.006999	0	0
CALCOCO1	57658	broad.mit.edu	37	12	54107533	54107533	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:54107533G>A	uc001sef.3	-	12	1887	c.1743C>T	c.(1741-1743)ccC>ccT	p.P581P	CALCOCO1_uc001see.3_Silent_p.P82P|CALCOCO1_uc010som.2_Silent_p.P496P|CALCOCO1_uc010son.2_Silent_p.P458P|CALCOCO1_uc009znd.3_Silent_p.P581P|CALCOCO1_uc001seg.3_Silent_p.P406P|CALCOCO1_uc001seh.2_Silent_p.P581P	NM_020898	NP_065949	Q9P1Z2	CACO1_HUMAN	Homo sapiens calcium binding and coiled-coil domain 1 (CALCOCO1), transcript variant 1, mRNA.	581	C-terminal AD (CTNNB1 binding site) (By similarity).				Wnt receptor signaling pathway|steroid hormone receptor signaling pathway|transcription, DNA-dependent	cytoplasm	armadillo repeat domain binding|beta-catenin binding|ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|sequence-specific DNA binding|transcription regulatory region DNA binding			NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	28						GAGGAGAAATGGGAGCCGGCT	0.622000														42			47		0	0	0.014410	0	0
LOC646813	646813	broad.mit.edu	37	11	50379486	50379486	+	RNA	SNP	T	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:50379486T>A	uc001nhe.2	+	5		c.969T>A			LOC646813_uc001nhf.1_Non-coding_Transcript|LOC646813_uc001nhg.1_Non-coding_Transcript|LOC646813_uc001nhh.1_Non-coding_Transcript|LOC646813_uc010rib.1_Non-coding_Transcript					Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 9 pseudogene (LOC646813), non-coding RNA.																		tgttttgttttTTTGCCTGTC	0.318000														4			4		0	0	0.009096	0	0
SCN5A	6331	broad.mit.edu	37	3	38592955	38592955	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:38592955C>T	uc021wvo.1	-	26	4960	c.4908G>A	c.(4906-4908)ctG>ctA	p.L1636L	SCN5A_uc021wvk.1_Silent_p.L1603L|SCN5A_uc021wvl.1_Silent_p.L1582L|SCN5A_uc021wvm.1_Silent_p.L1618L|SCN5A_uc021wvn.1_Silent_p.L1635L|SCN5A_uc021wvp.1_Silent_p.L1636L|SCN5A_uc021wvq.1_3'UTR|SCN5A_uc021wvr.1_3'UTR|SCN5A_uc021wvs.1_3'UTR|SCN5A_uc021wvt.1_3'UTR|SCN5A_uc021wvu.1_3'UTR|SCN5A_uc021wvv.1_3'UTR|SCN5A_uc021wvj.1_Silent_p.L1448L|SCN5A_uc021wvi.1_Silent_p.L1502L	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	1636					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	CCCCTCGGATCAGTCTGAGGA	0.597000														44			40		0	0	0.007835	0	0
PCSK5	5125	broad.mit.edu	37	9	78938195	78938195	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr9:78938195G>A	uc004akc.2	+	30	4787	c.4249G>A	c.(4249-4251)Gag>Aag	p.E1417K		NM_001190482	NP_001177411	Q92824	PCSK5_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 5 (PCSK5), transcript variant 1, mRNA.	666					anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	Golgi lumen|extracellular space|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						GGAGACTAAGGAGTGCAGAGG	0.507000														2			19		0	0	0.010504	0	0
DPPA3	359787	broad.mit.edu	37	12	7869615	7869615	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:7869615G>A	uc001qtf.3	+	3	500	c.422G>A	c.(421-423)tGg>tAg	p.W141*		NM_199286	NP_954980	Q6W0C5	DPPA3_HUMAN	Homo sapiens developmental pluripotency associated 3 (DPPA3), mRNA.	141						cytoplasm|nucleus				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2)	8				Kidney(36;0.0887)		TCTAATGGATGGGATCCTTCT	0.368000														96			89		0	0	0.014410	0	0
KRT74	121391	broad.mit.edu	37	12	52962062	52962062	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:52962062C>T	uc001sap.1	-	6	1294	c.1246G>A	c.(1246-1248)Gag>Aag	p.E416K		NM_175053	NP_778223	Q7RTS7	K2C74_HUMAN	Homo sapiens keratin 74 (KRT74), mRNA.	416	Coil 2.|Rod.					keratin filament	structural molecule activity			kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	28				BRCA - Breast invasive adenocarcinoma(357;0.191)		GCCAGCTCCTCCTTGGCCTGG	0.652000														33			30		0	0	0.009535	0	0
TSPAN12	23554	broad.mit.edu	37	7	120455792	120455792	+	Silent	SNP	C	T	T	rs139536082	byFrequency	TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:120455792C>T	uc003vjk.3	-	4	725	c.351G>A	c.(349-351)caG>caA	p.Q117Q		NM_012338	NP_036470	O95859	TSN12_HUMAN	Homo sapiens tetraspanin 12 (TSPAN12), mRNA.	117					angiogenesis|cell surface receptor linked signaling pathway|regulation of angiogenesis|retina layer formation	integral to plasma membrane|membrane fraction				endometrium(3)|kidney(1)|lung(4)|ovary(1)|skin(1)	10	all_neural(327;0.117)					CCATAAGTTCCTGTTCATATG	0.338000														16			18		0	0	0.010504	0	0
NF1	4763	broad.mit.edu	37	17	29553501	29553501	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr17:29553501C>T	uc002hgg.3	+	17	2433	c.2050C>T	c.(2050-2052)Cag>Tag	p.Q684*	NF1_uc002hgh.3_Nonsense_Mutation_p.Q684*|NF1_uc010csn.2_Nonsense_Mutation_p.Q544*|NF1_uc002hgi.1_5'UTR	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	684					MAPKKK cascade|Ras protein signal transduction|actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|metanephros development|myelination in peripheral nervous system|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	Ras GTPase activator activity|protein binding	p.0?(8)|p.?(4)|p.Q684*(2)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CCGACAAGCCCAGACCAAACT	0.507000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				31			22		0	0	0.002780	0	0
KCTD11	147040	broad.mit.edu	37	17	7256709	7256709	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr17:7256709G>A	uc002gge.4	+	0	1502	c.448G>A	c.(448-450)Gag>Aag	p.E150K	TMEM95_uc002ggf.1_5'Flank|TMEM95_uc002ggg.1_5'Flank|TMEM95_uc002ggh.1_5'Flank	NM_001002914	NP_001002914	Q693B1	KCD11_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 11 (KCTD11), mRNA.	150					cell cycle|regulation of growth	voltage-gated potassium channel complex	voltage-gated potassium channel activity			kidney(1)|large_intestine(2)|lung(1)	4		Prostate(122;0.157)				GGATAGGGCAGAGGGGAGCCC	0.642000														38			26		0	0	0.009535	0	0
GRIA3	2892	broad.mit.edu	37	X	122538605	122538605	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:122538605G>A	uc004etq.4	+	9	1632	c.1340G>A	c.(1339-1341)gGa>gAa	p.G447E	GRIA3_uc004etr.4_Missense_Mutation_p.G447E|GRIA3_uc004ets.4_Non-coding_Transcript|GRIA3_uc011muf.1_Missense_Mutation_p.G431E	NM_007325	NP_015564	P42263	GRIA3_HUMAN	Homo sapiens glutamate receptor, ionotrophic, AMPA 3 (GRIA3), transcript variant 1, mRNA.	447					glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					L-Glutamic Acid(DB00142)	CAACTGGAAGGAAATGAACGA	0.373000														60			23		0	0	0.005443	0	0
GPR98	84059	broad.mit.edu	37	5	90103553	90103553	+	Splice_Site	SNP	C	G	G			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:90103553C>G	uc003kju.3	+	73	15068	c.14972_splice	c.e73+1	p.R4991_splice	GPR98_uc003kjt.3_Splice_Site_p.R2697_splice|GPR98_uc003kjw.3_Splice_Site_p.R652_splice	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	4991					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AGCTCAACTCCGGTAAGACCA	0.483000														27			28		0	0	0.005443	0	0
POF1B	79983	broad.mit.edu	37	X	84561243	84561243	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:84561243C>T	uc004eer.2	-	11	1407	c.1261G>A	c.(1261-1263)Gaa>Aaa	p.E421K	POF1B_uc004ees.3_Missense_Mutation_p.E421K	NM_024921	NP_079197	Q8WVV4	POF1B_HUMAN	Homo sapiens premature ovarian failure, 1B (POF1B), mRNA.	421							actin binding			central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						TATTCCAGTTCTTTTAGTCTG	0.338000														59			42		0	0	0.010771	0	0
C15orf2	23742	broad.mit.edu	37	15	24923385	24923385	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr15:24923385G>A	uc001ywo.3	+	0	2845	c.2371G>A	c.(2371-2373)Gat>Aat	p.D791N		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	791					cell differentiation|multicellular organismal development|spermatogenesis			p.H790L(1)		NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8)	140		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		CAGTGCCCATGATTTCCTGAG	0.537000														77			69		0	0	0.014410	0	0
PLEKHA4	57664	broad.mit.edu	37	19	49362198	49362198	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:49362198G>A	uc002pkx.3	-	7	1442	c.891C>T	c.(889-891)ccC>ccT	p.P297P	PLEKHA4_uc010eml.3_Silent_p.P297P	NM_020904	NP_065955	Q9H4M7	PKHA4_HUMAN	Homo sapiens pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4 (PLEKHA4), transcript variant 1, mRNA.	297	Pro-rich.					cytoplasm|membrane	1-phosphatidylinositol binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	30		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)		GTCCTCGGCGGGGAGTAGGGG	0.662000														31			21		0	0	0.012319	0	0
TTN	7273	broad.mit.edu	37	2	179585251	179585251	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:179585251C>T	uc021vsy.1	-	76	19731	c.19506G>A	c.(19504-19506)aaG>aaA	p.K6502K	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.K3163K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	7429	Ig-like 46.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTTAAATTTCTTGCTGTTTC	0.378000														14			20		0	0	0.008871	0	0
DOT1L	84444	broad.mit.edu	37	19	2216683	2216683	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:2216683C>T	uc002lvc.1	+	5	976	c.209C>T	c.(208-210)cCg>cTg	p.P70L	DOT1L_uc002lvb.4_Missense_Mutation_p.P776L|AX746733_uc002lvd.1_5'Flank|DOT1L_uc002lve.1_Missense_Mutation_p.P70L	NM_032482	NP_115871	Q8TEK3	DOT1L_HUMAN	Homo sapiens DOT1-like, histone H3 methyltransferase (S. cerevisiae) (DOT1L), mRNA.	776						nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGGCTGTCCCCGGCCAAGATT	0.692000														23			26		0	0	0.009535	0	0
LIPK	643414	broad.mit.edu	37	10	90497538	90497538	+	Splice_Site	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr10:90497538G>A	uc010qmv.2	+	6	816	c.816_splice	c.e6+1	p.M272_splice		NM_001080518	NP_001073987	Q5VXJ0	LIPK_HUMAN	Homo sapiens lipase, family member K (LIPK), mRNA.	272					lipid catabolic process	extracellular region	hydrolase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	12		Colorectal(252;0.0381)		Colorectal(12;7.03e-05)|COAD - Colon adenocarcinoma(12;8.33e-05)		ACTTAAATATGGTAGGTGTAA	0.388000														74			53		0	0	0.014410	0	0
ODZ4	26011	broad.mit.edu	37	11	78380168	78380168	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:78380168C>T	uc001ozl.4	-	31	7685	c.7222G>A	c.(7222-7224)Gat>Aat	p.D2408N	ODZ4_uc001ozk.4_Missense_Mutation_p.D633N	NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 4 (Drosophila) (ODZ4), mRNA.	2408					signal transduction	integral to membrane				breast(4)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(45)|ovary(3)|pancreas(2)|prostate(4)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						GTGAGTGGATCATAGAGGCCA	0.517000														12			8		0	0	0.003080	0	0
KRT1	3848	broad.mit.edu	37	12	53072416	53072416	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:53072416C>T	uc001sau.1	-	1	775	c.716G>A	c.(715-717)cGa>cAa	p.R239Q	KRT1_uc001sav.1_Missense_Mutation_p.R239Q	NM_006121	NP_006112	P04264	K2C1_HUMAN	Homo sapiens keratin 1 (KRT1), mRNA.	239	Coil 1B.|Rod.				complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress	plasma membrane	protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						CACTCTCCTTCGGAGATTGTT	0.473000														70			50		0	0	0.014410	0	0
CSMD1	64478	broad.mit.edu	37	8	2823397	2823397	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr8:2823397G>A	uc022aqr.1	-	58	9570	c.9180C>T	c.(9178-9180)agC>agT	p.S3060S	CSMD1_uc011kwj.2_Silent_p.S2390S|CSMD1_uc010lrg.3_Intron	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	3061	Sushi 24.					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)		TACACTGATAGCTCACAGTCT	0.488000														11			6		0	0	0.001984	0	0
EFR3A	23167	broad.mit.edu	37	8	133008661	133008661	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr8:133008661C>T	uc003yte.3	+	18	2278	c.2074C>T	c.(2074-2076)Cga>Tga	p.R692*		NM_015137	NP_055952	Q14156	EFR3A_HUMAN	Homo sapiens EFR3 homolog A (S. cerevisiae) (EFR3A), mRNA.	692						plasma membrane	binding	p.R692*(2)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2)	35	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)			AGATGAAGATCGACTTTCTAG	0.308000														9			12		0	0	0.001855	0	0
COL4A1	1282	broad.mit.edu	37	13	110850904	110850904	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr13:110850904G>A	uc001vqw.4	-	20	1317	c.1195C>T	c.(1195-1197)Cct>Tct	p.P399S		NM_001845	NP_001836	P02462	CO4A1_HUMAN	Homo sapiens collagen, type IV, alpha 1 (COL4A1), mRNA.	399	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			GATGTACCAGGAAATCCTCGG	0.607000														31			31		0	0	0.013726	0	0
OR5B17	219965	broad.mit.edu	37	11	58125899	58125899	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:58125899G>A	uc010rke.2	-	0	644	c.644C>T	c.(643-645)tCc>tTc	p.S215F		NM_001005489	NP_001005489	Q8NGF7	OR5BH_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily B, member 17 (OR5B17), mRNA.	215					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S215F(2)		NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				GAACAGATAGGAAATCAAGGT	0.373000														22			10		0	0	0.006214	0	0
SGIP1	84251	broad.mit.edu	37	1	67147816	67147816	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:67147816C>T	uc001dcr.3	+	14	1296	c.1079C>T	c.(1078-1080)cCc>cTc	p.P360L	SGIP1_uc010opd.2_Intron|SGIP1_uc001dcs.3_Intron|SGIP1_uc001dct.3_Intron|SGIP1_uc009wat.3_Missense_Mutation_p.P127L	NM_032291	NP_115667	Q9BQI5	SGIP1_HUMAN	Homo sapiens SH3-domain GRB2-like (endophilin) interacting protein 1 (SGIP1), mRNA.	360	Pro-rich.				positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	SH3 domain binding|microtubule binding|phospholipid binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						CCCACAGGCCCCCCAGGGCCT	0.572000														11			156		0	0	0.014410	0	0
DNAH7	56171	broad.mit.edu	37	2	196738347	196738347	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:196738347C>T	uc002utj.4	-	38	6459	c.6358G>A	c.(6358-6360)Gat>Aat	p.D2120N		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	2120	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						ATGGATTTATCACTAAACTCA	0.274000														45			30		0	0	0.012213	0	0
DRP2	1821	broad.mit.edu	37	X	100515075	100515075	+	Missense_Mutation	SNP	C	T	T	rs34562102		TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:100515075C>T	uc004egz.2	+	22	3035	c.2666C>T	c.(2665-2667)tCg>tTg	p.S889L	DRP2_uc011mrh.1_Missense_Mutation_p.S811L	NM_001939	NP_001164655	Q13474	DRP2_HUMAN	Homo sapiens dystrophin related protein 2 (DRP2), transcript variant 1, mRNA.	889					central nervous system development	cytoplasm|cytoskeleton	zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						TCTGCAGGCTCGTCCCTAGCT	0.572000														63			64		0	0	0.014410	0	0
ACE	1636	broad.mit.edu	37	17	61574170	61574170	+	Missense_Mutation	SNP	A	G	G			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr17:61574170A>G	uc002jau.2	+	23	3549	c.3515A>G	c.(3514-3516)aAg>aGg	p.K1172R	ACE_uc010wpj.2_Missense_Mutation_p.K557R|ACE_uc010ddv.2_Missense_Mutation_p.K399R|ACE_uc002jav.2_Missense_Mutation_p.K598R|ACE_uc002jaw.2_Non-coding_Transcript|ACE_uc010wpk.2_Missense_Mutation_p.K377R	NM_000789	NP_000780	P12821	ACE_HUMAN	Homo sapiens angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 (ACE), transcript variant 1, mRNA.	1172	Peptidase M2 2.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	ACCGCCATGAAGCTGGGCTTC	0.627000														23			12		0	0	0.001855	0	0
SIPA1	6494	broad.mit.edu	37	11	65408595	65408595	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:65408595C>T	uc001ofb.2	+	1	370	c.203C>T	c.(202-204)cCc>cTc	p.P68L	SIPA1_uc010rom.1_Missense_Mutation_p.P68L|SIPA1_uc001ofd.2_Missense_Mutation_p.P68L	NM_006747	NP_694985	Q96FS4	SIPA1_HUMAN	Homo sapiens signal-induced proliferation-associated 1 (SIPA1), transcript variant 2, mRNA.	68					cell proliferation|cytoskeleton organization|intracellular signal transduction|negative regulation of cell adhesion|negative regulation of cell cycle|negative regulation of cell growth	cytosol|endomembrane system|membrane|perinuclear region of cytoplasm	Rap GTPase activator activity			cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						CCAGCCAGCCCCCGTGCCCGT	0.731000														12			14		0	0	0.002450	0	0
STXBP5L	9515	broad.mit.edu	37	3	120973774	120973774	+	Missense_Mutation	SNP	T	G	G			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:120973774T>G	uc003eec.4	+	15	1614	c.1474T>G	c.(1474-1476)Tca>Gca	p.S492A	STXBP5L_uc011bji.2_Missense_Mutation_p.S492A	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN	Homo sapiens syntaxin binding protein 5-like (STXBP5L), mRNA.	492					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		GCTAAAAACTTCAAAAGTGTT	0.338000														12			27		0	0	0.008361	0	0
PREX2	80243	broad.mit.edu	37	8	69032465	69032465	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr8:69032465C>T	uc003xxv.1	+	28	3566	c.3539C>T	c.(3538-3540)gCt>gTt	p.A1180V		NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA.	1180					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity|protein binding			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						AAAGGGCAGGCTGTTGTGAGG	0.383000														62			57		0	0	0.014410	0	0
TLR3	7098	broad.mit.edu	37	4	187003870	187003870	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr4:187003870C>T	uc003iyq.3	+	3	1131	c.1030C>T	c.(1030-1032)Ccc>Tcc	p.P344S	TLR3_uc011ckz.2_Missense_Mutation_p.P67S|TLR3_uc003iyr.3_Missense_Mutation_p.P67S	NM_003265	NP_003256	O15455	TLR3_HUMAN	Homo sapiens toll-like receptor 3 (TLR3), mRNA.	344					I-kappaB phosphorylation|MyD88-independent toll-like receptor signaling pathway|activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|inflammatory response|innate immune response|negative regulation of osteoclast differentiation|positive regulation of NF-kappaB import into nucleus|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway	endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane	double-stranded RNA binding|transmembrane receptor activity			breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		TGCCTCACTCCCCAAGATTGA	0.378000														39			18		0	0	0.007413	0	0
GPR123	84435	broad.mit.edu	37	10	134906629	134906629	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr10:134906629G>A	uc001llw.3	+	9	1900	c.1900G>A	c.(1900-1902)Gaa>Aaa	p.E634K	GPR123_uc001llx.4_Intron			Q86SQ6	GP123_HUMAN	Homo sapiens G protein-coupled receptor 123 (GPR123), mRNA.	488						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		GTGCAGGAAAGAAGGTTCCTC	0.607000														13			7		0	0	0.001984	0	0
MYH4	4622	broad.mit.edu	37	17	10348156	10348156	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr17:10348156C>T	uc002gmn.3	-	37	5638	c.5527G>A	c.(5527-5529)Ggt>Agt	p.G1843S	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	1843					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TTGCGAAGACCCTTGACAGCC	0.438000														76			54		0	0	0.014410	0	0
ABCB5	340273	broad.mit.edu	37	7	20725334	20725334	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:20725334G>A	uc010kuh.3	+	15	2122	c.1885G>A	c.(1885-1887)Gat>Aat	p.D629N	ABCB5_uc003suw.4_Missense_Mutation_p.D184N	NM_001163941	NP_848654	Q2M3G0	ABCB5_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 5 (ABCB5), transcript variant 1, mRNA.	184	ABC transporter 2.				regulation of membrane potential	Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						TAAAAAAGCTGATGAACAGAT	0.343000														36			31		0	0	0.003271	0	0
SPDYE3	441272	broad.mit.edu	37	7	99912223	99912223	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:99912223G>A	uc022aij.1	+	5	1235	c.1051G>A	c.(1051-1053)Gaa>Aaa	p.E351K		NM_001004351	NP_001004351	A6NKU9	SPDE3_HUMAN	Homo sapiens speedy homolog E3 (Xenopus laevis) (SPDYE3), mRNA.	351										endometrium(10)|kidney(1)|lung(8)|urinary_tract(1)	20						GTGTTTGGATGAATCTGATGA	0.602000														20			38		0	0	0.014410	0	0
PGR	5241	broad.mit.edu	37	11	100933403	100933403	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:100933403G>A	uc001pgh.2	-	3	2730	c.1987C>T	c.(1987-1989)Cca>Tca	p.P663S	PGR_uc001pgg.2_Missense_Mutation_p.P44S|PGR_uc001pgi.2_Intron|PGR_uc009yww.1_Intron|PGR_uc001pgj.2_Non-coding_Transcript|PGR_uc009ywx.1_Non-coding_Transcript	NM_000926	NP_000917	P06401	PRGR_HUMAN	Homo sapiens progesterone receptor (PGR), transcript variant 2, mRNA.	663					cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	p.V662I(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)	CTTTCATTTGGAACGCCCACT	0.428000														4			38		0	0	0.006999	0	0
ZFP112	7771	broad.mit.edu	37	19	44890960	44890960	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:44890960G>A	uc010xxa.2	-	3	1511	c.1468C>T	c.(1468-1470)Cca>Tca	p.P490S	ZFP112_uc010xwz.2_Intron|ZFP112_uc002ozd.4_Missense_Mutation_p.P483S	NM_152354	NP_689567	Q9UJU3	ZF112_HUMAN	Homo sapiens zinc finger protein 285 (ZNF285), mRNA.	776					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(1)|lung(8)|ovary(3)|prostate(4)|skin(3)	41						CATTTATATGGTTTTTCTCCA	0.383000														36			35		0	0	0.013726	0	0
KIAA0182	23199	broad.mit.edu	37	16	85704609	85704609	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr16:85704609C>T	uc002fix.3	+	14	3498	c.3424C>T	c.(3424-3426)Ctg>Ttg	p.L1142L	KIAA0182_uc002fiw.3_Silent_p.L1038L|KIAA0182_uc002fiy.3_Silent_p.L1069L|KIAA0182_uc002fiz.3_Silent_p.L284L|KIAA0182_uc010cho.3_Silent_p.L322L	NM_014615	NP_055430	Q14687	GSE1_HUMAN	Homo sapiens KIAA0182 (KIAA0182), transcript variant 1, mRNA.	1142							protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	35						AGAGCAAAATCTGGAGCGGCA	0.582000														40			36		0	0	0.004878	0	0
WISP1	8840	broad.mit.edu	37	8	134225127	134225127	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr8:134225127G>A	uc003yub.3	+	1	196	c.90G>A	c.(88-90)acG>acA	p.T30T	WISP1_uc003yuc.3_Silent_p.T30T|WISP1_uc010meb.3_Intron|WISP1_uc010mec.3_Silent_p.T30T|WISP1_uc010med.3_Intron|WISP1_uc003yud.3_5'Flank	NM_003882	NP_003873	O95388	WISP1_HUMAN	Homo sapiens WNT1 inducible signaling pathway protein 1 (WISP1), transcript variant 1, mRNA.	30					Wnt receptor signaling pathway|cell adhesion|cell-cell signaling|regulation of cell growth	extracellular region|soluble fraction	insulin-like growth factor binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21	all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			CAGCCCCTACGACCATGGACT	0.657000														10			7		0	0	0.003080	0	0
SERPINA11	256394	broad.mit.edu	37	14	94914515	94914515	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr14:94914515G>A	uc001ydd.1	-	1	657	c.597C>T	c.(595-597)ttC>ttT	p.F199F		NM_001080451	NP_001073920	Q86U17	SPA11_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11 (SERPINA11), mRNA.	199					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(14)|skin(1)|upper_aerodigestive_tract(1)	24				COAD - Colon adenocarcinoma(157;0.211)		TGTCCTGGCTGAACTCCGGGA	0.463000														63			54		0	0	0.014410	0	0
STRN	6801	broad.mit.edu	37	2	37085036	37085036	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:37085036C>T	uc002rpn.3	-	13	1809	c.1800G>A	c.(1798-1800)gaG>gaA	p.E600E	STRN_uc010ezx.3_Silent_p.E563E	NM_003162	NP_003153	O43815	STRN_HUMAN	Homo sapiens striatin, calmodulin binding protein (STRN), mRNA.	600					Wnt receptor signaling pathway|dendrite development|locomotory behavior|negative regulation of cell proliferation|tight junction assembly	cytoplasm|dendritic spine|neuronal cell body|postsynaptic density|postsynaptic membrane|tight junction	armadillo repeat domain binding|calmodulin binding|estrogen receptor binding|protein complex binding|protein phosphatase 2A binding	p.E600K(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33		Ovarian(717;0.0129)|all_hematologic(82;0.21)				CTGGAGCAACCTCAGTTGTAT	0.393000														25			19		0	0	0.002780	0	0
MYCBP2	23077	broad.mit.edu	37	13	77642739	77642739	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr13:77642739G>A	uc021rks.1	-	69	12399	c.12132C>T	c.(12130-12132)ttC>ttT	p.F4044F	MYCBP2_uc010aev.3_Silent_p.F3410F|MYCBP2_uc001vke.3_Silent_p.F623F	NM_015057	NP_055872	O75592	MYCB2_HUMAN	Homo sapiens MYC binding protein 2 (MYCBP2), mRNA.	4006					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		GAAGCAGCGAGAAGAGATCCT	0.473000														22			19		0	0	0.006122	0	0
ASXL3	80816	broad.mit.edu	37	18	31324907	31324907	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr18:31324907G>A	uc010dmg.1	+	11	5150	c.5095G>A	c.(5095-5097)Gcc>Acc	p.A1699T	ASXL3_uc002kxq.2_Missense_Mutation_p.A1406T	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA.	1699					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						TGCAGAGGGAGCCTCTAGTGT	0.522000														45			42		0	0	0.013114	0	0
COPZ2	51226	broad.mit.edu	37	17	46109536	46109536	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr17:46109536C>T	uc002imy.3	-	7	487	c.474G>A	c.(472-474)gaG>gaA	p.E158E		NM_016429	NP_057513	Q9P299	COPZ2_HUMAN	Homo sapiens coatomer protein complex, subunit zeta 2 (COPZ2), mRNA.	160					intracellular protein transport|vesicle-mediated transport	COPI vesicle coat|cis-Golgi network				lung(3)|upper_aerodigestive_tract(1)	4						CATCCACAATCTCGTCCAGCA	0.577000														8			10		0	0	0.010729	0	0
ARID1B	57492	broad.mit.edu	37	6	157528792	157528792	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr6:157528792C>T	uc003qqp.3	+	18	6478	c.6478C>T	c.(6478-6480)Cag>Tag	p.Q2160*	ARID1B_uc003qqo.3_Nonsense_Mutation_p.Q2173*|ARID1B_uc003qqn.3_Nonsense_Mutation_p.Q2213*	NM_017519	NP_059989	Q8NFD5	ARI1B_HUMAN	Homo sapiens AT rich interactive domain 1B (SWI1-like) (ARID1B), transcript variant 1, mRNA.	2160					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		GGCCCAGTACCAGCAGAGCCA	0.582000														5			23		0	0	0.002780	0	0
SLC38A10	124565	broad.mit.edu	37	17	79234139	79234139	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr17:79234139G>A	uc002jzz.1	-	10	1562	c.1187C>T	c.(1186-1188)tCt>tTt	p.S396F	SLC38A10_uc002jzy.1_Missense_Mutation_p.S314F|SLC38A10_uc002kab.3_Missense_Mutation_p.S396F	NM_001037984	NP_001033073	Q9HBR0	S38AA_HUMAN	Homo sapiens solute carrier family 38, member 10 (SLC38A10), transcript variant 1, mRNA.	396					amino acid transport|sodium ion transport	integral to membrane				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			CTCGCTCACAGACAGTGTGGT	0.672000														7			9		0	0	0.008291	0	0
C2orf71	388939	broad.mit.edu	37	2	29295609	29295609	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:29295609C>T	uc002rmt.2	-	0	1519	c.1519G>A	c.(1519-1521)Gaa>Aaa	p.E507K		NM_001029883	NP_001025054	A6NGG8	CB071_HUMAN	Homo sapiens chromosome 2 open reading frame 71 (C2orf71), mRNA.	507					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						GGAGTTTTTTCCTGCCAGGCA	0.562000														67			51		0	0	0.014410	0	0
OCLN	100506658	broad.mit.edu	37	5	68805261	68805261	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:68805261G>A	uc003jwu.3	+	2	780	c.344G>A	c.(343-345)gGa>gAa	p.G115E	OCLN_uc003jwv.4_Missense_Mutation_p.G115E|OCLN_uc021xzq.1_Intron|OCLN_uc021xzr.1_Non-coding_Transcript|OCLN_uc021xzs.1_Intron|OCLN_uc021xzt.1_Intron	NM_002538	NP_001192184	Q16625	OCLN_HUMAN	Homo sapiens occludin (OCLN), transcript variant 1, mRNA.	115	Gly/Tyr-rich.|MARVEL.				cellular component disassembly involved in apoptosis|protein complex assembly	integral to membrane|tight junction	protein binding|structural molecule activity			endometrium(2)|large_intestine(1)|liver(1)|prostate(1)|skin(1)	6		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)		GGTAGCTACGGAAGtggctat	0.527000														55			43		0	0	0.007835	0	0
SPATA21	374955	broad.mit.edu	37	1	16736220	16736220	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:16736220C>T	uc001ayn.3	-	5	946	c.463G>A	c.(463-465)Gga>Aga	p.G155R	SPATA21_uc001ayl.1_Non-coding_Transcript|SPATA21_uc010occ.2_Missense_Mutation_p.G132R	NM_198546	NP_940948	Q7Z572	SPT21_HUMAN	Homo sapiens spermatogenesis associated 21 (SPATA21), mRNA.	155	Pro-rich.						calcium ion binding	p.M154I(1)		breast(1)|endometrium(2)|lung(8)|ovary(2)|pancreas(3)|stomach(1)|urinary_tract(2)	19		Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.15e-05)|BRCA - Breast invasive adenocarcinoma(304;4.2e-05)|Kidney(64;0.000183)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.0122)|READ - Rectum adenocarcinoma(331;0.0651)		ACCGGGGCTCCCATGGGGGCA	0.697000														9			10		0	0	0.006214	0	0
ZNF681	148213	broad.mit.edu	37	19	23927908	23927908	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:23927908C>T	uc002nrk.4	-	3	586	c.444G>A	c.(442-444)atG>atA	p.M148I	ZNF681_uc002nrl.4_Missense_Mutation_p.M79I|ZNF681_uc002nrj.4_Missense_Mutation_p.M79I	NM_138286	NP_612143	Q96N22	ZN681_HUMAN	Homo sapiens zinc finger protein 681 (ZNF681), mRNA.	148					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				GAAAGATTTTCATATATTTAT	0.289000														15			7		0	0	0.003080	0	0
ARHGAP28	79822	broad.mit.edu	37	18	6889985	6889985	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr18:6889985C>T	uc002knc.3	+	12	4690	c.1479C>T	c.(1477-1479)ttC>ttT	p.F493F	ARHGAP28_uc002kne.3_Silent_p.F386F|ARHGAP28_uc010wzi.2_Silent_p.F368F|ARHGAP28_uc002knf.3_Silent_p.F377F	NM_001010000	NP_001010000	B4DXL2	B4DXL2_HUMAN	Homo sapiens Rho GTPase activating protein 28 (ARHGAP28), mRNA.	368					signal transduction	intracellular		p.F545F(1)|p.F386F(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	37		Colorectal(10;0.168)				ACCTTTTCTTCAGTAGAAGCA	0.408000														38			33		0	0	0.012213	0	0
SERPINE2	5270	broad.mit.edu	37	2	224866633	224866633	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:224866633G>A	uc010zlr.1	-	1	158	c.21C>T	c.(19-21)tcC>tcT	p.S7S	SERPINE2_uc002vnu.2_5'UTR|SERPINE2_uc002vnv.2_5'UTR	NM_001136530	NP_001130000	P07093	GDN_HUMAN	Homo sapiens serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2 (SERPINE2), transcript variant 4, mRNA.	0					negative regulation of blood coagulation|negative regulation of plasminogen activation|negative regulation of platelet aggregation|positive regulation of astrocyte differentiation|regulation of cell migration	cytosol|extracellular matrix|extracellular space|extrinsic to external side of plasma membrane|neuromuscular junction|platelet alpha granule	heparin binding|receptor binding|serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	17		Renal(207;0.025)|all_lung(227;0.0586)|Lung NSC(271;0.0682)|all_hematologic(139;0.0797)		Epithelial(121;5.68e-10)|all cancers(144;1.9e-07)|Lung(261;0.0088)|LUSC - Lung squamous cell carcinoma(224;0.00902)		CTTCCACCAAGGACGACCTGG	0.428000														24			34		0	0	0.012213	0	0
SMARCA2	6595	broad.mit.edu	37	9	2088560	2088560	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr9:2088560C>T	uc003zhc.3	+	18	2929	c.2830C>T	c.(2830-2832)Cca>Tca	p.P944S	SMARCA2_uc003zhd.3_Missense_Mutation_p.P944S|SMARCA2_uc010mha.3_Missense_Mutation_p.P877S	NM_003070	NP_003061	P51531	SMCA2_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 (SMARCA2), transcript variant 1, mRNA.	944					chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	SWI/SNF complex|WINAC complex|intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm	ATP binding|DNA-dependent ATPase activity|RNA polymerase II transcription coactivator activity|helicase activity|protein binding|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		GGTGTTAAGACCATTTTTACT	0.348000														112			92		0	0	0.014410	0	0
KIAA1045	23349	broad.mit.edu	37	9	34978046	34978046	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr9:34978046G>A	uc003zvq.3	+	7	1319	c.1141G>A	c.(1141-1143)Gtc>Atc	p.V381I	KIAA1045_uc003zvr.3_Missense_Mutation_p.V381I	NM_015297	NP_056112	Q9UPV7	K1045_HUMAN	Homo sapiens KIAA1045 (KIAA1045), mRNA.	381							calcium ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(32;0.00575)			GCAAGAGAATGTCCTCTACAT	0.557000														59			59		0	0	0.014410	0	0
FGF5	2250	broad.mit.edu	37	4	81207563	81207563	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr4:81207563G>A	uc003hmd.3	+	2	781	c.544G>A	c.(544-546)Gaa>Aaa	p.E182K	FGF5_uc003hme.3_3'UTR	NM_004464	NP_004455	P12034	FGF5_HUMAN	Homo sapiens fibroblast growth factor 5 (FGF5), transcript variant 1, mRNA.	182					cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation	extracellular space	fibroblast growth factor receptor binding|growth factor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22						ACATAGAACTGAAAAAACAGG	0.458000														80			60		0	0	0.014410	0	0
RP1L1	94137	broad.mit.edu	37	8	10467103	10467103	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr8:10467103C>T	uc003wtc.3	-	3	4734	c.4505G>A	c.(4504-4506)aGg>aAg	p.R1502K		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA.	1502					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)		CGAAGAGCTCCTCTCTGCAGC	0.647000														18			23		0	0	0.002780	0	0
BIN2	51411	broad.mit.edu	37	12	51685437	51685437	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:51685437C>T	uc001ryg.3	-	9	1505	c.1453G>A	c.(1453-1455)Gaa>Aaa	p.E485K	BIN2_uc009zlz.3_Missense_Mutation_p.E453K|BIN2_uc001ryh.3_Missense_Mutation_p.E361K|BIN2_uc010sng.2_Missense_Mutation_p.E459K	NM_016293	NP_057377	Q9UBW5	BIN2_HUMAN	Homo sapiens bridging integrator 2 (BIN2), mRNA.	485						cytoplasm	protein binding			NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3)	31						TGGATGTTTTCATTTTCTTTG	0.443000														18			15		0	0	0.004990	0	0
TNFRSF21	27242	broad.mit.edu	37	6	47221100	47221100	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr6:47221100G>A	uc003oyv.3	-	3	1834	c.1401C>T	c.(1399-1401)acC>acT	p.T467T		NM_014452	NP_055267	O75509	TNR21_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 21 (TNFRSF21), mRNA.	467	Death.				cellular lipid metabolic process	cytoplasm|integral to membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2)	21			Lung(136;0.189)			GGCCCCGGATGGTCCAGTGCT	0.597000														10			11		0	0	0.008291	0	0
ZNF679	168417	broad.mit.edu	37	7	63709527	63709527	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:63709527G>A	uc003tsx.3	+	1	301	c.32G>A	c.(31-33)cGa>cAa	p.R11Q		NM_153363	NP_699194	Q8IYX0	ZN679_HUMAN	Homo sapiens zinc finger protein 679 (ZNF679), mRNA.	11					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						CCTGGAAGCCGAGAAATGGTG	0.572000														36			19		0	0	0.014323	0	0
URB2	9816	broad.mit.edu	37	1	229773816	229773816	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:229773816C>T	uc001hts.1	+	3	3592	c.3456C>T	c.(3454-3456)gcC>gcT	p.A1152A	URB2_uc009xfd.1_Silent_p.A1152A	NM_014777	NP_055592	Q14146	URB2_HUMAN	Homo sapiens URB2 ribosome biogenesis 2 homolog (S. cerevisiae) (URB2), mRNA.	1152						nucleolus				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						CCCATGTTGCCCTCTACCAGG	0.562000														3			73		0	0	0.014410	0	0
CNGA3	1261	broad.mit.edu	37	2	99013074	99013074	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:99013074C>T	uc010fij.3	+	7	1594	c.1453C>T	c.(1453-1455)Cgc>Tgc	p.R485C	CNGA3_uc002syt.3_Missense_Mutation_p.R481C|CNGA3_uc002syu.3_Missense_Mutation_p.R463C			Q16281	CNGA3_HUMAN	Homo sapiens cyclic nucleotide gated channel alpha 3 (CNGA3), transcript variant 1, mRNA.	481			D -> V (in ACHM2).		signal transduction|visual perception	integral to membrane	cGMP binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						GAAGAAGGTTCGCATCTTCCA	0.567000														12			7		0	0	0.003080	0	0
SEC14L5	9717	broad.mit.edu	37	16	5053432	5053432	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr16:5053432G>A	uc002cye.2	+	10	1340	c.1160G>A	c.(1159-1161)gGa>gAa	p.G387E		NM_014692	NP_055507	O43304	S14L5_HUMAN	Homo sapiens SEC14-like 5 (S. cerevisiae) (SEC14L5), mRNA.	387	CRAL-TRIO.					integral to membrane|intracellular	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						GACCTGGAGGGACTCAACATG	0.642000														32			29		0	0	0.003755	0	0
SPTA1	6708	broad.mit.edu	37	1	158645977	158645977	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:158645977G>A	uc001fst.1	-	7	1265	c.1066C>T	c.(1066-1068)Cgt>Tgt	p.R356C		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	356					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GCCAGGGCACGAATATGCTCC	0.483000														8			255		0	0	0.014410	0	0
CHST1	8534	broad.mit.edu	37	11	45672072	45672072	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:45672072G>A	uc021qgn.1	-	0	402	c.402C>T	c.(400-402)ttC>ttT	p.F134F	CHST1_uc001mys.2_Silent_p.F134F	NM_003654	NP_003645	O43916	CHST1_HUMAN	Homo sapiens carbohydrate (keratan sulfate Gal-6) sulfotransferase 1 (CHST1), mRNA.	134					galactose metabolic process|inflammatory response|keratan sulfate metabolic process	Golgi membrane|integral to membrane	keratan sulfotransferase activity			breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)		AGTTCTCCAGGAAGTAGAGGT	0.697000														47			40		0	0	0.013114	0	0
OR1L3	26735	broad.mit.edu	37	9	125437934	125437934	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr9:125437934C>T	uc011lzb.2	+	0	526	c.526C>T	c.(526-528)Cat>Tat	p.H176Y		NM_001005234	NP_001005234	Q8NH93	OR1L3_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily L, member 3 (OR1L3), mRNA.	176					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	16						TGTTATCCATCATTTTTTTTG	0.463000														12			89		0	0	0.014410	0	0
SLC28A2	9153	broad.mit.edu	37	15	45554282	45554282	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr15:45554282C>T	uc001zva.2	+	3	305	c.240C>T	c.(238-240)atC>atT	p.I80I		NM_004212	NP_004203	O43868	S28A2_HUMAN	Homo sapiens solute carrier family 28 (sodium-coupled nucleoside transporter), member 2 (SLC28A2), mRNA.	80					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding|nucleoside:sodium symporter activity|purine nucleoside transmembrane transporter activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(4)|skin(1)	26		all_cancers(109;8.53e-07)|all_epithelial(112;1.39e-05)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06)		TCAAGAAGATCCTGTTGGGCC	0.408000														77			50		0	0	0.014410	0	0
ZNF799	90576	broad.mit.edu	37	19	12502508	12502508	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:12502508G>A	uc010dyt.3	-	3	908	c.704C>T	c.(703-705)tCt>tTt	p.S235F	ZNF799_uc002mts.4_Intron	NM_001080821	NP_001074290	Q96GE5	ZN799_HUMAN	Homo sapiens zinc finger protein 799 (ZNF799), mRNA.	235					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						ACTGTAAAAAGAAAAGGCTTT	0.383000														72			57		0	0	0.014410	0	0
PI4K2A	55361	broad.mit.edu	37	10	99359866	99359866	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr10:99359866G>A	uc001kny.3	+	4	1005	c.646G>A	c.(646-648)Gat>Aat	p.D216N	PI4K2A_uc001knx.2_3'UTR|PI4K2A_uc001knz.3_Intron|PI4K2A_uc010qoy.1_Intron	NM_138413	NP_612422	Q9BTU6	P4K2A_HUMAN	Homo sapiens 4-hydroxy-2-oxoglutarate aldolase 1 (HOGA1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	0	PI3K/PI4K.				phosphatidylinositol biosynthetic process	cytoplasm|integral to plasma membrane|membrane raft	1-phosphatidylinositol 4-kinase activity|ATP binding|magnesium ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1)	12		Colorectal(252;0.162)		Epithelial(162;1.24e-10)|all cancers(201;1.2e-08)		CAGGAAGCAGGATTTTCAGGT	0.547000														79			58		0	0	0.014410	0	0
CASR	846	broad.mit.edu	37	3	122002959	122002959	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:122002959G>A	uc003eew.4	+	6	2626	c.2188G>A	c.(2188-2190)Ggg>Agg	p.G730R	CASR_uc003eev.4_Missense_Mutation_p.G720R	NM_001178065	NP_001171536	P41180	CASR_HUMAN	Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA.	720					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity	p.L730L(2)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	CAAGTGGTGGGGGCTCAACCT	0.567000														11			16		0	0	0.004007	0	0
SRL	6345	broad.mit.edu	37	16	4253226	4253226	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr16:4253226G>A	uc002cvz.4	-	2	213	c.200C>T	c.(199-201)tCc>tTc	p.S67F	SRL_uc002cvy.4_Non-coding_Transcript	NM_001098814	NP_001092284	Q86TD4	SRCA_HUMAN	Homo sapiens sarcalumenin (SRL), mRNA.	526	Acidic domain, probably binds calcium (By similarity).					sarcoplasmic reticulum lumen	GTP binding|GTPase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(3)	21						AGGCTTGATGGATGAGTGGTA	0.567000														44			29		0	0	0.012213	0	0
NPTX2	4885	broad.mit.edu	37	7	98256594	98256594	+	Missense_Mutation	SNP	G	A	A	rs141241960		TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:98256594G>A	uc003upl.2	+	3	1183	c.1006G>A	c.(1006-1008)Gag>Aag	p.E336K		NM_002523	NP_002514	P47972	NPTX2_HUMAN	Homo sapiens neuronal pentraxin II (NPTX2), mRNA.	336	Pentaxin.				synaptic transmission	extracellular region	metal ion binding|sugar binding	p.E336K(2)		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)			GGGCACTGGGGAGAACCTGGC	0.642000														32			10		0	0	0.010729	0	0
HTRA3	94031	broad.mit.edu	37	4	8294051	8294051	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr4:8294051G>A	uc003gla.3	+	4	1114	c.907G>A	c.(907-909)Ggg>Agg	p.G303R	HTRA3_uc003gkz.3_Missense_Mutation_p.G303R	NM_053044	NP_444272	P83110	HTRA3_HUMAN	Homo sapiens HtrA serine peptidase 3 (HTRA3), mRNA.	303	Serine protease.				proteolysis|regulation of cell growth	extracellular region	insulin-like growth factor binding|serine-type endopeptidase activity	p.Y302*(1)		central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|prostate(1)|urinary_tract(1)	18						CTTGCAGTACGGGAACTCCGG	0.572000														31			15		0	0	0.002450	0	0
RHOT1	55288	broad.mit.edu	37	17	30533929	30533929	+	Splice_Site	SNP	T	C	C			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr17:30533929T>C	uc002hgw.3	+	17	1656	c.1417_splice	c.e17-1	p.L473_splice	RHOT1_uc002hgy.3_Splice_Site_p.L473_splice|RHOT1_uc002hgz.3_Splice_Site_p.L473_splice|RHOT1_uc002hha.3_Splice_Site_p.L346_splice|RHOT1_uc010csv.3_Splice_Site|RHOT1_uc002hgx.3_Splice_Site_p.L346_splice|RHOT1_uc010wby.2_Splice_Site_p.L473_splice|RHOT1_uc002hhb.3_Splice_Site_p.L452_splice|RHOT1_uc002hgv.3_Splice_Site_p.L473_splice	NM_001033568	NP_001028740	Q8IXI2	MIRO1_HUMAN	Homo sapiens ras homolog gene family, member T1 (RHOT1), transcript variant 1, mRNA.	473	Miro 2.				apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to mitochondrial outer membrane|plasma membrane	GTP binding|GTPase activity|calcium ion binding|protein binding			NS(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28		Myeloproliferative disorder(56;0.0255)|Breast(31;0.116)|Ovarian(249;0.182)				CTTTTACAAGTTGCATGATAT	0.303000														17			14		0	0	0.001855	0	0
HLA-DRB5	3127	broad.mit.edu	37	6	32549447	32549447	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr6:32549447C>T	uc003obp.4	-	2	633	c.539G>A	c.(538-540)gGa>gAa	p.G180E	HLA-DRB5_uc003obk.4_Intron|HLA-DRB5_uc021yvx.1_Intron|HLA-DRB5_uc003obo.1_Intron|AK293020_uc010jub.1_5'Flank|HLA-DRB5_uc011dqb.1_Missense_Mutation_p.G10E|HLA-DRB5_uc011dqc.1_Missense_Mutation_p.G10E	NM_002124	NP_002115	Q30154	DRB5_HUMAN	Homo sapiens major histocompatibility complex, class II, DR beta 1 (HLA-DRB1), transcript variant 1, mRNA.	180	Beta-2.|Ig-like C1-type.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response	Golgi apparatus|MHC class II protein complex|endoplasmic reticulum membrane|integral to membrane|late endosome membrane|lysosomal membrane				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|stomach(2)	10						GGTCCAGTCTCCATTCTGGAT	0.552000														143			12		0	0	0.009718	0	0
TLL1	7092	broad.mit.edu	37	4	166915560	166915560	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr4:166915560G>A	uc003irh.2	+	3	1036	c.389G>A	c.(388-390)gGa>gAa	p.G130E	TLL1_uc021xud.1_Missense_Mutation_p.G130E|TLL1_uc011cjn.2_Missense_Mutation_p.G130E|TLL1_uc011cjo.2_5'UTR	NM_012464	NP_036596	O43897	TLL1_HUMAN	Homo sapiens tolloid-like 1 (TLL1), transcript variant 1, mRNA.	130					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)		ACAGTTAAGGGAAAAGTACCT	0.418000														20			24		0	0	0.006320	0	0
ZNF343	79175	broad.mit.edu	37	20	2464164	2464164	+	Silent	SNP	A	G	G			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr20:2464164A>G	uc002wge.1	-	5	1931	c.1443T>C	c.(1441-1443)ctT>ctC	p.L481L	ZNF343_uc010gao.1_Silent_p.L481L|ZNF343_uc002wgd.1_Silent_p.L391L	NM_024325	NP_077301	Q6P1L6	ZN343_HUMAN	Homo sapiens zinc finger protein 343 (ZNF343), mRNA.	481					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|skin(4)|upper_aerodigestive_tract(1)	25						TCTGGTGGACAAGGAGGAGTG	0.527000														44			23		0	0	0.002780	0	0
TAF8	129685	broad.mit.edu	37	6	42036228	42036228	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr6:42036228C>T	uc003ort.3	+	6	692	c.663C>T	c.(661-663)atC>atT	p.I221I	TAF8_uc003ors.3_Silent_p.I221I|TAF8_uc003oru.1_Silent_p.I221I|TAF8_uc003orv.1_Silent_p.I221I|TAF8_uc011dun.2_Intron			Q7Z7C8	TAF8_HUMAN	Homo sapiens TAF8 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 43kDa (TAF8), mRNA.	221					cell differentiation|maintenance of protein location in nucleus|positive regulation of transcription, DNA-dependent|regulation of fat cell differentiation|transcription, DNA-dependent	perinuclear region of cytoplasm|transcription factor TFIID complex	DNA binding|protein binding			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	6	Colorectal(47;0.196)		STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|Epithelial(12;0.00179)			CTTTCACCATCCCCTACCTGA	0.522000														269			107		0	0	0.014410	0	0
ALPK1	80216	broad.mit.edu	37	4	113352475	113352475	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr4:113352475C>T	uc003ian.4	+	10	1999	c.1772C>T	c.(1771-1773)tCc>tTc	p.S591F	ALPK1_uc003iap.4_Missense_Mutation_p.S591F|ALPK1_uc011cfx.2_Missense_Mutation_p.S513F|ALPK1_uc003iao.4_Intron|ALPK1_uc010imo.3_Missense_Mutation_p.S419F	NM_001102406	NP_079420	Q96QP1	ALPK1_HUMAN	Homo sapiens alpha-kinase 1 (ALPK1), transcript variant 2, mRNA.	591							ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		GGGTTTAGTTCCTCTGCAAGC	0.512000														34			36		0	0	0.003755	0	0
FAM135B	51059	broad.mit.edu	37	8	139145022	139145022	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr8:139145022C>T	uc003yuy.3	-	19	4206	c.4035G>A	c.(4033-4035)atG>atA	p.M1345I	FAM135B_uc003yux.3_Missense_Mutation_p.M1246I|FAM135B_uc003yuz.3_Non-coding_Transcript	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA.	1345										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)			GGTTGTTGATCATTTCTGCAT	0.502000										HNSCC(54;0.14)				94			67		0	0	0.014410	0	0
NLRC3	197358	broad.mit.edu	37	16	3602201	3602201	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr16:3602201C>T	uc010btn.3	-	10	2754	c.2343G>A	c.(2341-2343)gaG>gaA	p.E781E	NLRC3_uc010bto.1_Silent_p.E47E	NM_178844	NP_849172	Q7RTR2	NLRC3_HUMAN	Homo sapiens NLR family, CARD domain containing 3 (NLRC3), mRNA.	782					I-kappaB kinase/NF-kappaB cascade|T cell activation|negative regulation of NF-kappaB transcription factor activity	cytoplasm	ATP binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CTCACATGAGCTCTTTCAGAC	0.542000														26			14		0	0	0.003163	0	0
PJA1	64219	broad.mit.edu	37	X	68381536	68381536	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:68381536C>T	uc022byl.1	-	0	1546	c.1546G>A	c.(1546-1548)Gga>Aga	p.G516R	PJA1_uc004dxg.3_Missense_Mutation_p.G328R|PJA1_uc004dxh.3_Missense_Mutation_p.G516R|PJA1_uc004dxi.3_Missense_Mutation_p.G461R|PJA1_uc011mpi.2_Missense_Mutation_p.G234R	NM_001032396	NP_001027568	Q8NG27	PJA1_HUMAN	Homo sapiens praja ring finger 1 (PJA1), transcript variant 2, mRNA.	516							zinc ion binding			endometrium(3)|large_intestine(5)|lung(12)|ovary(1)	21						TCTGCAAATCCATCAAAGAGG	0.502000														56			27		0	0	0.005443	0	0
USH2A	7399	broad.mit.edu	37	1	216497555	216497555	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:216497555C>T	uc001hku.1	-	6	1670	c.1283G>A	c.(1282-1284)gGa>gAa	p.G428E	USH2A_uc001hkv.3_Missense_Mutation_p.G428E	NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	428	Laminin N-terminal.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TTCCAAATCTCCATTGTTTTT	0.318000										HNSCC(13;0.011)				1			57		0	0	0.014410	0	0
IL17RD	54756	broad.mit.edu	37	3	57138405	57138405	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:57138405G>A	uc003dil.3	-	7	867	c.778C>T	c.(778-780)Ctt>Ttt	p.L260F	IL17RD_uc003dik.3_Missense_Mutation_p.L236F|IL17RD_uc010hna.3_Missense_Mutation_p.L116F|IL17RD_uc011bex.1_Missense_Mutation_p.L116F	NM_017563	NP_060033	Q8NFM7	I17RD_HUMAN	Homo sapiens interleukin 17 receptor D (IL17RD), mRNA.	260						Golgi membrane|integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1)	16				KIRC - Kidney renal clear cell carcinoma(284;0.0173)|Kidney(284;0.0204)		ACATTTTGAAGGAGGCAGCTG	0.413000														10			7		0	0	0.004482	0	0
RCAN2	10231	broad.mit.edu	37	2	174085957	174085957	+	Missense_Mutation	SNP	T	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:174085957T>A	uc002uhy.3	+	11	1267	c.1067T>A	c.(1066-1068)aTg>aAg	p.M356K	RCAN2_uc010zei.2_Missense_Mutation_p.M255K|RCAN2_uc002uhz.3_Intron|MLK7-AS1_uc002uib.3_Intron	NM_133646	NP_598407	Q14206	RCAN2_HUMAN	Homo sapiens sterile alpha motif and leucine zipper containing kinase AZK (ZAK), transcript variant 2, mRNA.	0					calcium-mediated signaling|central nervous system development		nucleotide binding|protein phosphatase 2B binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						AGTGCAGAGATGTCATGTCAG	0.468000														35			29		0	0	0.005443	0	0
GRIP1	23426	broad.mit.edu	37	12	66771023	66771023	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:66771023C>T	uc001stk.3	-	19	2749	c.2508G>A	c.(2506-2508)gaG>gaA	p.E836E	GRIP1_uc010sta.1_Silent_p.E780E|GRIP1_uc001stj.3_Silent_p.E618E|GRIP1_uc001stm.3_Silent_p.E836E|GRIP1_uc001stl.1_Silent_p.E728E	NM_021150	NP_066973	Q9Y3R0	GRIP1_HUMAN	Homo sapiens glutamate receptor interacting protein 1 (GRIP1), transcript variant 1, mRNA.	888					androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		ACCAGAAGTTCTCCTCTTGTT	0.458000														91			76		0	0	0.014410	0	0
TMEM151A	256472	broad.mit.edu	37	11	66063101	66063101	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:66063101G>A	uc001ohl.3	+	1	1496	c.1384G>A	c.(1384-1386)Ggg>Agg	p.G462R		NM_153266	NP_694998	Q8N4L1	T151A_HUMAN	Homo sapiens transmembrane protein 151A (TMEM151A), mRNA.	462						integral to membrane				central_nervous_system(1)|kidney(4)|lung(6)	11						CGGCTGCCAGGGGGATGGGCA	0.662000														2			3		0	0	0.004672	0	0
ITGB7	3695	broad.mit.edu	37	12	53594188	53594188	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:53594188G>A	uc009zmv.3	-	1	111	c.40C>T	c.(40-42)Ctg>Ttg	p.L14L	ITGB7_uc001scc.3_Silent_p.L14L|ITGB7_uc010snz.2_Non-coding_Transcript|ITGB7_uc010soa.1_Silent_p.L14L	NM_000889	NP_000880	P26010	ITB7_HUMAN	Homo sapiens integrin, beta 7 (ITGB7), mRNA.	14					cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|regulation of immune response	integrin complex	identical protein binding|metal ion binding|receptor activity			NS(2)|breast(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CCTCTGCTCAGGACCAGCAGC	0.552000														15			15		0	0	0.004990	0	0
RP2	6102	broad.mit.edu	37	X	46713160	46713160	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:46713160C>T	uc004dgw.4	+	1	541	c.352C>T	c.(352-354)Cgt>Tgt	p.R118C		NM_006915	NP_008846	O75695	XRP2_HUMAN	Homo sapiens retinitis pigmentosa 2 (X-linked recessive) (RP2), mRNA.	118	C-CAP/cofactor C-like.		R -> C (in RP2).|R -> H (in RP2; reduces affinity for ARL3 800-fold; loss of stimulation of tubulin GTPase activity; no effect on subcellular location).|R -> L (in RP2; dbSNP:rs28933687).		CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process|cell morphogenesis|protein folding|visual perception	cytoplasm|plasma membrane	ATP binding|GTP binding|GTPase activator activity|nucleoside diphosphate kinase activity|unfolded protein binding	p.R118C(2)		NS(1)|large_intestine(4)|lung(5)|stomach(1)	11						CCAACAATTTCGTGTGCGAGA	0.418000														64			54		0	0	0.014410	0	0
JHDM1D	80853	broad.mit.edu	37	7	139818920	139818920	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:139818920G>A	uc003vvm.3	-	8	1243	c.1239C>T	c.(1237-1239)acC>acT	p.T413T	JHDM1D_uc010lng.3_Non-coding_Transcript	NM_030647	NP_085150	Q6ZMT4	KDM7_HUMAN	Homo sapiens jumonji C domain containing histone demethylase 1 homolog D (S. cerevisiae) (JHDM1D), mRNA.	413					midbrain development|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)	22	Melanoma(164;0.0142)					TACCTTTCAGGGTTTCCAGCA	0.353000														181			77		0	0	0.014410	0	0
BAIAP3	8938	broad.mit.edu	37	16	1391445	1391445	+	Missense_Mutation	SNP	T	G	G			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr16:1391445T>G	uc002clk.2	+	7	949	c.791T>G	c.(790-792)gTg>gGg	p.V264G	BAIAP3_uc010uuz.2_Missense_Mutation_p.V229G|BAIAP3_uc010uva.2_Missense_Mutation_p.V201G|BAIAP3_uc021tag.1_Missense_Mutation_p.V206G|BAIAP3_uc002clj.3_Missense_Mutation_p.V246G|BAIAP3_uc010uvb.2_Missense_Mutation_p.V281G|BAIAP3_uc010uvc.1_Missense_Mutation_p.V229G	NM_003933	NP_001186026	O94812	BAIP3_HUMAN	Homo sapiens BAI1-associated protein 3 (BAIAP3), transcript variant 1, mRNA.	264	C2 1.				G-protein coupled receptor protein signaling pathway|neurotransmitter secretion		protein C-terminus binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42		Hepatocellular(780;0.0893)				GTCACCGAGGTGAAGAGCAGC	0.682000														44			30		0	0	0.004289	0	0
DCAF12L2	340578	broad.mit.edu	37	X	125299834	125299834	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:125299834G>A	uc004euk.2	-	0	247	c.74C>T	c.(73-75)tCg>tTg	p.S25L		NM_001013628	NP_001013650	Q5VW00	DC122_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 12-like 2 (DCAF12L2), mRNA.	25										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						TAAACCCTGCGACGACGAGCT	0.697000														14			30		0	0	0.010818	0	0
CYP4F12	66002	broad.mit.edu	37	19	15791299	15791299	+	Silent	SNP	G	A	A	rs141478890		TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:15791299G>A	uc002nbl.3	+	4	614	c.495G>A	c.(493-495)acG>acA	p.T165T	CYP4F12_uc010xoo.2_Silent_p.T165T|CYP4F12_uc010xop.2_3'UTR	NM_023944	NP_076433			Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 12 (CYP4F12), mRNA.									p.T165T(2)		NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)					CCTATATAACGATCTTCAACA	0.537000														32			14		0	0	0.003163	0	0
GRB10	2887	broad.mit.edu	37	7	50671703	50671703	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:50671703G>A	uc003tpi.2	-	13	1582	c.1536C>T	c.(1534-1536)ctC>ctT	p.L512L	GRB10_uc003tph.3_Silent_p.L454L|GRB10_uc003tpj.2_Silent_p.L466L|GRB10_uc003tpk.2_Silent_p.L512L|GRB10_uc010kzb.2_Silent_p.L454L|GRB10_uc003tpl.2_Silent_p.L506L|GRB10_uc003tpm.2_Silent_p.L454L	NM_005311	NP_005302	Q13322	GRB10_HUMAN	Homo sapiens growth factor receptor-bound protein 10 (GRB10), transcript variant 1, mRNA.	512	SH2.				insulin receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|positive regulation of phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway	cytosol|plasma membrane	SH3/SH2 adaptor activity|insulin receptor binding			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	41	Glioma(55;0.08)|all_neural(89;0.245)					ACCCATCCACGAGCCCTTGCT	0.507000									Russell-Silver syndrome					92			137		0	0	0.014410	0	0
NLRP11	204801	broad.mit.edu	37	19	56321635	56321635	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:56321635C>T	uc010ygf.2	-	4	1052	c.341G>A	c.(340-342)gGa>gAa	p.G114E	NLRP11_uc002qlz.3_Missense_Mutation_p.G15E|NLRP11_uc002qmb.3_Missense_Mutation_p.G15E|NLRP11_uc002qmc.3_Non-coding_Transcript|NLRP11_uc010ete.1_Non-coding_Transcript	NM_145007	NP_659444	P59045	NAL11_HUMAN	Homo sapiens NLR family, pyrin domain containing 11 (NLRP11), mRNA.	114							ATP binding			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)		ATGAAATTTTCCAAAAGTGTG	0.383000														19			16		0	0	0.004007	0	0
POLR1B	84172	broad.mit.edu	37	2	113330160	113330160	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:113330160C>T	uc002thw.2	+	12	2676	c.2096C>T	c.(2095-2097)cCa>cTa	p.P699L	POLR1B_uc010fkn.2_Missense_Mutation_p.P643L|POLR1B_uc002thx.2_Missense_Mutation_p.P560L|POLR1B_uc010fko.2_Missense_Mutation_p.P516L|POLR1B_uc010fkp.2_Missense_Mutation_p.P138L|POLR1B_uc002thy.2_Missense_Mutation_p.P560L|POLR1B_uc010yxo.1_Missense_Mutation_p.P476L	NM_019014	NP_061887	Q9H9Y6	RPA2_HUMAN	Homo sapiens polymerase (RNA) I polypeptide B, 128kDa (POLR1B), transcript variant 1, mRNA.	699					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						ATGGGCTTTCCACTTCTCACT	0.408000														36			30		0	0	0.003271	0	0
abParts	0	broad.mit.edu	37	14	106494244	106494244	+	RNA	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr14:106494244G>A	uc021ser.1	-	2337		c.41408C>T								Parts of antibodies, mostly variable regions.																		GCTCTTCAGAGATGGGCTGTA	0.527000														45			28		0	0	0.006320	0	0
TMEFF2	23671	broad.mit.edu	37	2	192815113	192815113	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:192815113C>T	uc002utc.3	-	9	1443	c.1049G>A	c.(1048-1050)aGa>aAa	p.R350K		NM_016192	NP_057276	Q9UIK5	TEFF2_HUMAN	Homo sapiens transmembrane protein with EGF-like and two follistatin-like domains 2 (TMEFF2), mRNA.	350						extracellular region|integral to membrane				breast(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(12)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.0835)			TCTGTGAATTCTGTTGCTTCT	0.423000														39			48		0	0	0.014410	0	0
MYH2	4620	broad.mit.edu	37	17	10432094	10432094	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr17:10432094C>T	uc010coi.3	-	26	3785	c.3657G>A	c.(3655-3657)gtG>gtA	p.V1219V	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Silent_p.V1219V|MYH2_uc010coj.3_Intron	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.	1219					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.V1219A(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						GCTTCTGCTTCACTCGCTGCA	0.512000														53			56		0	0	0.014410	0	0
XIRP1	165904	broad.mit.edu	37	3	39226238	39226238	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:39226238C>T	uc003cjk.2	-	1	4928	c.4699G>A	c.(4699-4701)Gag>Aag	p.E1567K	XIRP1_uc003cji.3_3'UTR|XIRP1_uc003cjj.3_Missense_Mutation_p.E250K|XIRP1_uc021wvz.1_Missense_Mutation_p.E1567K	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN	Homo sapiens xin actin-binding repeat containing 1 (XIRP1), transcript variant 1, mRNA.	1567							actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		GCACTGGCCTCAGGCTGGAGG	0.577000														57			36		0	0	0.003271	0	0
ELFN2	114794	broad.mit.edu	37	22	37771307	37771307	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr22:37771307C>T	uc003asq.4	-	2	1054	c.268G>A	c.(268-270)Gag>Aag	p.E90K	ELFN2_uc021wph.1_Missense_Mutation_p.E90K	NM_052906	NP_443138	Q5R3F8	LRFN6_HUMAN	Homo sapiens extracellular leucine-rich repeat and fibronectin type III domain containing 2 (ELFN2), mRNA.	90						cell surface|integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					TAGGAGATCTCGTTCTTGGTG	0.597000														19			30		0	0	0.008361	0	0
OR7D4	125958	broad.mit.edu	37	19	9324610	9324610	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:9324610C>T	uc002mla.2	-	0	938	c.904G>A	c.(904-906)Gaa>Aaa	p.E302K		NM_001005191	NP_001005191	Q8NG98	OR7D4_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily D, member 4 (OR7D4), mRNA.	302					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1)	26						AGGAGTCTTTCCAGGGCCCCC	0.552000														22			33		0	0	0.005524	0	0
ABCC8	6833	broad.mit.edu	37	11	17483175	17483175	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:17483175G>A	uc001mnc.3	-	4	903	c.777C>T	c.(775-777)gcC>gcT	p.A259A	ABCC8_uc010rcy.1_Silent_p.A259A	NM_000352	NP_000343	Q09428	ABCC8_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 8 (ABCC8), mRNA.	259					carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	AGTTGGTGAGGGCCCTCATGG	0.587000														192			169		0	0	0.014410	0	0
PCDHB7	56129	broad.mit.edu	37	5	140553447	140553447	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:140553447G>A	uc003lit.3	+	0	1205	c.1031G>A	c.(1030-1032)cGa>cAa	p.R344Q		NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	Homo sapiens protocadherin beta 7 (PCDHB7), mRNA.	344	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AACGATAATCGACCCGAGCTG	0.458000														32			16		0	0	0.004007	0	0
GCN1L1	10985	broad.mit.edu	37	12	120575762	120575762	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:120575762G>A	uc001txo.3	-	47	6349	c.6336C>T	c.(6334-6336)atC>atT	p.I2112I		NM_006836	NP_006827	Q92616	GCN1L_HUMAN	Homo sapiens GCN1 general control of amino-acid synthesis 1-like 1 (yeast) (GCN1L1), mRNA.	2112					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CCGCTGGGAGGATCACGCCAA	0.602000														15			12		0	0	0.002450	0	0
ATP9A	10079	broad.mit.edu	37	20	50221426	50221426	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr20:50221426G>A	uc002xwg.1	-	26	2937	c.2937C>T	c.(2935-2937)ctC>ctT	p.L979L	ATP9A_uc010gih.1_Silent_p.L843L|ATP9A_uc002xwf.1_Silent_p.L151L	NM_006045	NP_006036	O75110	ATP9A_HUMAN	Homo sapiens ATPase, class II, type 9A (ATP9A), mRNA.	979					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						CCACTGTCATGAGCCAGTGCC	0.587000														12			13		0	0	0.013537	0	0
SLC6A12	6539	broad.mit.edu	37	12	309836	309836	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:309836C>T	uc001qhz.3	-	7	1356	c.692G>A	c.(691-693)gGg>gAg	p.G231E	SLC6A12_uc001qhy.3_5'Flank|SLC6A12_uc001qia.3_Missense_Mutation_p.G231E|SLC6A12_uc001qib.3_Missense_Mutation_p.G231E|SLC6A12_uc009zdh.2_Missense_Mutation_p.G231E|SLC6A12_uc009zdi.1_Non-coding_Transcript	NM_003044	NP_003035	P48065	S6A12_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, betaine/GABA), member 12 (SLC6A12), transcript variant 1, mRNA.	231					cellular nitrogen compound metabolic process|neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00227)			GGACTTGACCCCCTTCCAGAT	0.627000														61			43		0	0	0.011902	0	0
ZSCAN5A	79149	broad.mit.edu	37	19	56733044	56733044	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:56733044C>T	uc002qmq.3	-	4	1557	c.1391G>A	c.(1390-1392)gGa>gAa	p.G464E	ZSCAN5A_uc010ygi.2_Missense_Mutation_p.G347E|ZSCAN5A_uc002qmr.3_Missense_Mutation_p.G464E|ZSCAN5A_uc002qms.1_Missense_Mutation_p.G463E	NM_024303	NP_077279	Q9BUG6	ZSA5A_HUMAN	Homo sapiens zinc finger and SCAN domain containing 5A (ZSCAN5A), mRNA.	464					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						GGGTTTCTCTCCGGAGTGGAT	0.498000														25			28		0	0	0.009535	0	0
PM20D1	148811	broad.mit.edu	37	1	205813229	205813229	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:205813229C>T	uc001hdj.3	-	4	769	c.693G>A	c.(691-693)aaG>aaA	p.K231K	PM20D1_uc009xbr.3_Non-coding_Transcript	NM_152491	NP_689704	Q6GTS8	P20D1_HUMAN	Homo sapiens peptidase M20 domain containing 1 (PM20D1), mRNA.	231						extracellular region	metal ion binding|peptidase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)	28	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			CGATGGGCTTCTTGAAGTTAG	0.537000														5			193		0	0	0.014410	0	0
TAP2	6891	broad.mit.edu	37	6	32782215	32782215	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr6:32782215C>T	uc011dqf.1	-	13	2468	c.2346G>A	c.(2344-2346)agG>agA	p.R782R	TAP2_uc003oca.3_Silent_p.R175R|TAP2_uc011dqg.1_Silent_p.R175R	NM_018833	NP_061313	Q03519	TAP2_HUMAN	Homo sapiens transporter 2, ATP-binding cassette, sub-family B (MDR/TAP) (TAP2), transcript variant 2, mRNA.	0					antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of T cell mediated cytotoxicity|positive regulation of antigen processing and presentation of peptide antigen via MHC class I	TAP complex|nucleus|plasma membrane	ATP binding|MHC class I protein binding|TAP1 binding|TAP2 binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|tapasin binding										AGTCTCCATTCCTGATAGGGC	0.527000														100			39		0	0	0.009718	0	0
RP1L1	94137	broad.mit.edu	37	8	10464818	10464818	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr8:10464818C>T	uc003wtc.3	-	3	7019	c.6790G>A	c.(6790-6792)Gag>Aag	p.E2264K		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA.	2264					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)		TCAGAAGCCTCCTCAGATTGG	0.612000														47			45		0	0	0.014410	0	0
VRTN	55237	broad.mit.edu	37	14	74825517	74825517	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr14:74825517C>T	uc021rwl.1	+	0	2031	c.2031C>T	c.(2029-2031)ctC>ctT	p.L677L	VRTN_uc001xpw.4_Silent_p.L677L	NM_018228	NP_060698	Q9H8Y1	VRTN_HUMAN	Homo sapiens vertebrae development homolog (pig) (VRTN), mRNA.	677					transposition, DNA-mediated		DNA binding|transposase activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						TCAGTGCCCTCTTTCCCCTCA	0.562000														29			24		0	0	0.007291	0	0
ELOVL6	79071	broad.mit.edu	37	4	110972566	110972566	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr4:110972566G>A	uc003hzz.3	-	4	852	c.726C>T	c.(724-726)taC>taT	p.Y242Y	ELOVL6_uc003iaa.3_Silent_p.Y242Y	NM_001130721	NP_076995	Q9H5J4	ELOV6_HUMAN	Homo sapiens ELOVL fatty acid elongase 6 (ELOVL6), transcript variant 2, mRNA.	242					fatty acid elongation, saturated fatty acid|long-chain fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process		fatty acid elongase activity|protein binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	8				OV - Ovarian serous cystadenocarcinoma(123;0.00462)		AGAGCACAAGGTAGCTGAGGT	0.473000														61			46		0	0	0.014410	0	0
FAAH2	158584	broad.mit.edu	37	X	57405126	57405126	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:57405126C>T	uc004dvc.3	+	5	934	c.785C>T	c.(784-786)gCc>gTc	p.A262V		NM_174912	NP_777572	Q6GMR7	FAAH2_HUMAN	Homo sapiens fatty acid amide hydrolase 2 (FAAH2), mRNA.	262						integral to membrane	carbon-nitrogen ligase activity, with glutamine as amido-N-donor|hydrolase activity			endometrium(2)|large_intestine(4)|lung(10)|ovary(3)|upper_aerodigestive_tract(3)	22						GCTGTGGGAGCCCAGGAGTTG	0.512000										HNSCC(52;0.14)				41			38		0	0	0.006230	0	0
NME8	51314	broad.mit.edu	37	7	37901644	37901644	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:37901644C>T	uc003tfn.3	+	6	657	c.285C>T	c.(283-285)atC>atT	p.I95I		NM_016616	NP_057700	Q8N427	TXND3_HUMAN	Homo sapiens thioredoxin domain containing 3 (spermatozoa) (TXNDC3), mRNA.	95	Thioredoxin.				CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process|cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity										GCAAAATTATCGAAAAGATTC	0.388000														29			40		0	0	0.013114	0	0
CEP85	64793	broad.mit.edu	37	1	26597588	26597588	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:26597588C>T	uc001bls.1	+	9	1864	c.1733C>T	c.(1732-1734)tCg>tTg	p.S578L	CEP85_uc001blr.3_Missense_Mutation_p.S578L|CEP85_uc010ofa.1_Missense_Mutation_p.S527L|CEP85_uc001blt.1_Missense_Mutation_p.S10L	NM_022778	NP_073615	Q6P2H3	CEP85_HUMAN	Homo sapiens centrosomal protein 85kDa (CEP85), mRNA.	578						centrosome|nucleolus|spindle pole				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(11)|skin(2)	25						CGATACGATTCGCTCCAAAAG	0.507000														5			60		0	0	0.014410	0	0
MAN2B2	23324	broad.mit.edu	37	4	6590804	6590804	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr4:6590804C>T	uc003gjf.1	+	4	633	c.597C>T	c.(595-597)tcC>tcT	p.S199S	MAN2B2_uc003gje.1_Silent_p.S199S|MAN2B2_uc011bwf.1_Silent_p.S199S	NM_015274	NP_056089	Q9Y2E5	MA2B2_HUMAN	Homo sapiens mannosidase, alpha, class 2B, member 2 (MAN2B2), mRNA.	199					mannose metabolic process	extracellular region	alpha-mannosidase activity|carbohydrate binding|zinc ion binding			breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						GGTCCCCATCCCTCTCAGAGC	0.612000														26			24		0	0	0.009535	0	0
FLT3	2322	broad.mit.edu	37	13	28589385	28589385	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr13:28589385G>A	uc001urw.3	-	21	2744	c.2662C>T	c.(2662-2664)Cct>Tct	p.P888S	FLT3_uc010aao.3_Non-coding_Transcript|FLT3_uc010tdn.2_Missense_Mutation_p.P847S	NM_004119	NP_004110	P36888	FLT3_HUMAN	Homo sapiens fms-related tyrosine kinase 3 (FLT3), mRNA.	888	Protein kinase.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity	p.G885fs*4(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Sorafenib(DB00398)|Sunitinib(DB01268)	CCAGGGTAAGGATTCACACCT	0.353000			"""Mis, O"""		"""AML, ALL"""									9			6		0	0	0.001984	0	0
EPHA6	285220	broad.mit.edu	37	3	97356795	97356795	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:97356795G>A	uc010how.1	+	13	2696	c.2653G>A	c.(2653-2655)Gat>Aat	p.D885N	EPHA6_uc011bgp.1_3'UTR|EPHA6_uc003drs.4_Missense_Mutation_p.D277N|EPHA6_uc003drr.4_Missense_Mutation_p.D277N|EPHA6_uc003drt.3_Missense_Mutation_p.D277N|EPHA6_uc010hox.1_Non-coding_Transcript	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	Homo sapiens EPH receptor A6 (EPHA6), transcript variant 1, mRNA.	790	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						GTATCTTTCTGATATGGGTTA	0.453000														85			73		0	0	0.014410	0	0
PRSS38	339501	broad.mit.edu	37	1	228003849	228003849	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:228003849G>A	uc001hrh.3	+	1	207	c.207G>A	c.(205-207)agG>agA	p.R69R		NM_183062	NP_898885	A1L453	PRS38_HUMAN	Homo sapiens protease, serine, 38 (PRSS38), mRNA.	69	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						CGCCCGAGAGGAAGTGGCCGT	0.667000														6			145		0	0	0.014410	0	0
FMN2	56776	broad.mit.edu	37	1	240371124	240371124	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:240371124C>T	uc010pye.2	+	5	3249	c.3024C>T	c.(3022-3024)ccC>ccT	p.P1008P	FMN2_uc010pyd.2_Silent_p.P1004P	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	Homo sapiens formin 2 (FMN2), mRNA.	1004	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)			CCCCACTTCCCGGAGCGGGCA	0.721000														37			18		0	0	0.004656	0	0
NEB	4703	broad.mit.edu	37	2	152512466	152512466	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:152512466C>T	uc021vrb.1	-	47	6596	c.6567G>A	c.(6565-6567)gtG>gtA	p.V2189V	NEB_uc002txu.3_Silent_p.V2189V|NEB_uc021vrc.1_Silent_p.V2189V|NEB_uc010fnx.3_Silent_p.V2189V|NEB_uc021vrd.1_Silent_p.V2189V	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	2189					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle	p.V2189E(1)		NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TGGCCTTCTCCACTTCCAGAG	0.428000														41			28		0	0	0.010818	0	0
SCN1A	6323	broad.mit.edu	37	2	166848847	166848847	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:166848847G>A	uc002udo.4	-	27	5165	c.4938C>T	c.(4936-4938)atC>atT	p.I1646I	SCN1A_uc010fpk.3_Silent_p.I1618I|SCN1A_uc021vsb.1_Silent_p.I1635I	NM_001202435	NP_001189364	P35498	SCN1A_HUMAN	Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA.	1646						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)	TCAGACGTAGGATTCGGCCAA	0.478000														66			46		0	0	0.014410	0	0
ARMC4	55130	broad.mit.edu	37	10	28196667	28196667	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr10:28196667G>A	uc009xky.3	-	16	2633	c.2535C>T	c.(2533-2535)tcC>tcT	p.S845S	ARMC4_uc010qds.2_Silent_p.S370S|ARMC4_uc010qdt.2_Silent_p.S537S|ARMC4_uc001itz.3_Silent_p.S845S	NM_018076	NP_060546	Q5T2S8	ARMC4_HUMAN	Homo sapiens armadillo repeat containing 4 (ARMC4), mRNA.	845							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						TTTTCAGCAGGGACCACAACA	0.433000														26			21		0	0	0.004656	0	0
COL7A1	1294	broad.mit.edu	37	3	48607608	48607608	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:48607608C>T	uc003ctz.2	-	97	7445	c.7444G>A	c.(7444-7446)Gaa>Aaa	p.E2482K		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	Homo sapiens collagen, type VII, alpha 1 (COL7A1), mRNA.	2482	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CGGCCATCTTCACCCTGGATG	0.582000														25			19		0	0	0.010504	0	0
ZBTB11	27107	broad.mit.edu	37	3	101384430	101384430	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:101384430C>T	uc003dve.4	-	3	1231	c.1001G>A	c.(1000-1002)cGa>cAa	p.R334Q		NM_014415	NP_055230	O95625	ZBT11_HUMAN	Homo sapiens zinc finger and BTB domain containing 11 (ZBTB11), mRNA.	334					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						ATTCTGTACTCGTAAGTCCTG	0.428000														41			32		0	0	0.009535	0	0
ITGB5	3693	broad.mit.edu	37	3	124538681	124538681	+	Splice_Site	SNP	C	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:124538681C>A	uc003eho.3	-	7	1240	c.943_splice	c.e7-1	p.D315_splice	ITGB5_uc010hrx.3_5'Flank	NM_002213	NP_002204	P18084	ITB5_HUMAN	Homo sapiens integrin, beta 5 (ITGB5), mRNA.	315	VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|muscle contraction	integrin complex	receptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	30				GBM - Glioblastoma multiforme(114;0.163)		GATGGATAGTCCTAGGGCCAA	0.468000														65			37		2.40579e-17	3.26389e-17	0.006230	1	0
KLHL18	23276	broad.mit.edu	37	3	47385374	47385374	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:47385374C>T	uc003crd.3	+	9	1794	c.1668C>T	c.(1666-1668)ccC>ccT	p.P556P	KLHL18_uc011bav.2_Silent_p.P444P	NM_025010	NP_079286	O94889	KLH18_HUMAN	Homo sapiens kelch-like 18 (Drosophila) (KLHL18), mRNA.	556										endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	21		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00645)|Kidney(197;0.00741)		TCATGGCCCCCATGGCGTGCC	0.597000														56			54		0	0	0.014410	0	0
CDH7	1005	broad.mit.edu	37	18	63481762	63481762	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr18:63481762C>T	uc002lkb.3	+	3	973	c.547C>T	c.(547-549)Cct>Tct	p.P183S	CDH7_uc002ljz.3_Missense_Mutation_p.P183S|CDH7_uc002lka.3_Missense_Mutation_p.P183S	NM_004361	NP_387450	Q9ULB5	CADH7_HUMAN	Homo sapiens cadherin 7, type 2 (CDH7), transcript variant b, mRNA.	183	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				TGCTGATGATCCTACATATGG	0.428000														53			39		0	0	0.011902	0	0
SPINK5	11005	broad.mit.edu	37	5	147469114	147469114	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:147469114G>A	uc003lox.2	+	6	605	c.532G>A	c.(532-534)Gaa>Aaa	p.E178K	SPINK5_uc010jgq.1_Non-coding_Transcript|SPINK5_uc010jgs.1_Missense_Mutation_p.E150K|SPINK5_uc010jgr.2_Missense_Mutation_p.E159K|SPINK5_uc003low.2_Missense_Mutation_p.E178K|SPINK5_uc003loy.2_Missense_Mutation_p.E178K	NM_006846	NP_006837	Q9NQ38	ISK5_HUMAN	Homo sapiens serine peptidase inhibitor, Kazal type 5 (SPINK5), transcript variant 2, mRNA.	178	Kazal-like 3.				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	p.R177R(1)		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)			ATGCACAAGGGAAAATGATCC	0.448000														52			33		0	0	0.003271	0	0
TLR4	7099	broad.mit.edu	37	9	120476810	120476810	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr9:120476810C>T	uc004bjz.3	+	2	2695	c.2404C>T	c.(2404-2406)Ctg>Ttg	p.L802L	TLR4_uc004bkb.3_Silent_p.L602L|TLR4_uc004bka.3_Silent_p.L762L	NM_138554	NP_612564	O00206	TLR4_HUMAN	Homo sapiens toll-like receptor 4 (TLR4), transcript variant 1, mRNA.	802	TIR.				I-kappaB phosphorylation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T-helper 1 type immune response|Toll signaling pathway|activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|innate immune response|intestinal epithelial structure maintenance|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						GGACAGTGTCCTGGGGCGGCA	0.552000														8			48		0	0	0.014410	0	0
ADCY1	107	broad.mit.edu	37	7	45717493	45717493	+	Missense_Mutation	SNP	A	C	C			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:45717493A>C	uc003tne.4	+	8	1649	c.1631A>C	c.(1630-1632)gAa>gCa	p.E544A		NM_021116	NP_066939	Q08828	ADCY1_HUMAN	Homo sapiens adenylate cyclase 1 (brain) (ADCY1), mRNA.	544					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	ACAGCCTCGGAAAAACTCAGA	0.498000														118			52		0	0	0.014410	0	0
ENOX2	10495	broad.mit.edu	37	X	129790564	129790564	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:129790564C>T	uc004evw.3	-	10	1625	c.1207G>A	c.(1207-1209)Gag>Aag	p.E403K	ENOX2_uc004evx.3_Missense_Mutation_p.E374K|ENOX2_uc004evy.3_Missense_Mutation_p.E374K|ENOX2_uc004evv.3_Missense_Mutation_p.E230K	NM_182314	NP_006366	Q16206	ENOX2_HUMAN	Homo sapiens ecto-NOX disulfide-thiol exchanger 2 (ENOX2), transcript variant 2, mRNA.	403					cell growth|electron transport chain|regulation of growth|transport|ultradian rhythm	cytosol|external side of plasma membrane|extracellular space	nucleic acid binding|nucleotide binding|protein disulfide oxidoreductase activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(3)	33						CCTGATTCCTCAGTTTCTTTT	0.318000														68			41		0	0	0.005524	0	0
CDHR1	92211	broad.mit.edu	37	10	85968030	85968030	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr10:85968030G>A	uc001kcv.3	+	10	1169	c.1064G>A	c.(1063-1065)gGa>gAa	p.G355E	CDHR1_uc001kcw.3_Missense_Mutation_p.G355E|CDHR1_uc009xst.3_Missense_Mutation_p.G114E	NM_033100	NP_149091	Q96JP9	CDHR1_HUMAN	Homo sapiens cadherin-related family member 1 (CDHR1), transcript variant 1, mRNA.	355					homophilic cell adhesion		calcium ion binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						ACATTCTATGGAGAGAGCGGA	0.592000														22			17		0	0	0.007413	0	0
OPN4	94233	broad.mit.edu	37	10	88417789	88417789	+	Splice_Site	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr10:88417789G>A	uc010qmk.1	+	4	551	c.324_splice	c.e4-1	p.Q108_splice	OPN4_uc001kdp.3_Splice_Site_p.Q108_splice|OPN4_uc001kdq.3_Splice_Site_p.R97_splice|OPN4_uc009xsx.1_5'Flank	NM_001030015	NP_001025186	Q9UHM6	OPN4_HUMAN	Homo sapiens opsin 4 (OPN4), transcript variant 2, mRNA.	97					phototransduction|protein-chromophore linkage|regulation of circadian rhythm|rhythmic process|visual perception	integral to membrane|plasma membrane	11-cis retinal binding|G-protein coupled photoreceptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(5)|ovary(3)	18						ATCCTCCCAGGAGCAGAAGCC	0.572000														23			25		0	0	0.003330	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140182346	140182346	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:140182346C>T	uc003lhf.2	+	0	1564	c.1564C>T	c.(1564-1566)Ccg>Tcg	p.P522S	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc011czy.2_Intron|PCDHAC2_uc011czz.2_Missense_Mutation_p.P522S	NM_018906	NP_061729	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 3 (PCDHA3), transcript variant 1, mRNA.	536	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCGCTGCAGCCGCTGGACCA	0.682000														83			68		0	0	0.014410	0	0
RBMXL2	27288	broad.mit.edu	37	11	7111474	7111474	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:7111474G>A	uc001mfc.2	+	0	1310	c.1123G>A	c.(1123-1125)Ggc>Agc	p.G375S		NM_014469	NP_055284	O75526	HNRGT_HUMAN	Homo sapiens RNA binding motif protein, X-linked-like 2 (RBMXL2), mRNA.	375	Arg/Gly/Pro-rich.					nucleus|ribonucleoprotein complex	RNA binding|nucleotide binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15				Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GGTGCCCAGGGGCGGAGGCCG	0.607000														4			4		0	0	0.000602	0	0
NDST1	3340	broad.mit.edu	37	5	149929308	149929308	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:149929308C>T	uc003lsk.4	+	12	2887	c.2385C>T	c.(2383-2385)ttC>ttT	p.F795F	NDST1_uc011dcj.2_Silent_p.F738F	NM_001543	NP_001534	P52848	NDST1_HUMAN	Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1 (NDST1), mRNA.	795	Heparan sulfate N-sulfotransferase 1.				heparan sulfate proteoglycan biosynthetic process|inflammatory response	Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	34		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGCAGAAGTTCCTTGGGGTGA	0.512000														21			20		0	0	0.003330	0	0
ASIC2	40	broad.mit.edu	37	17	31415911	31415911	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr17:31415911G>A	uc002hht.3	-	2	1830	c.957C>T	c.(955-957)ttC>ttT	p.F319F	ASIC2_uc002hhu.3_Silent_p.F268F	NM_183377	NP_899233	Q16515	ACCN1_HUMAN	Homo sapiens amiloride-sensitive cation channel 1, neuronal (ACCN1), transcript variant MDEG2, mRNA.	268					central nervous system development|peripheral nervous system development|synaptic transmission	integral to plasma membrane	ligand-gated sodium channel activity|protein binding									Amiloride(DB00594)	CAAAGGTCTGGAACCCTGGAG	0.577000														12			14		0	0	0.004007	0	0
RAB3C	115827	broad.mit.edu	37	5	58021869	58021869	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:58021869C>T	uc003jrp.3	+	2	390	c.293C>T	c.(292-294)gCc>gTc	p.A98V		NM_138453	NP_612462	Q96E17	RAB3C_HUMAN	Homo sapiens RAB3C, member RAS oncogene family (RAB3C), mRNA.	98					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)	21		all_cancers(5;9.93e-10)|all_epithelial(5;1.49e-10)|all_lung(5;8.97e-05)|Lung NSC(5;0.000139)|Prostate(74;0.0664)		OV - Ovarian serous cystadenocarcinoma(10;1.8e-34)		ATCACCACAGCCTATTATCGT	0.358000														49			37		0	0	0.007835	0	0
WWC3	55841	broad.mit.edu	37	X	10084537	10084537	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:10084537C>T	uc004csx.4	+	9	1252	c.1054C>T	c.(1054-1056)Cag>Tag	p.Q352*	WWC3_uc010nds.3_Nonsense_Mutation_p.Q16*|WWC3_uc010ndt.3_Non-coding_Transcript	NM_015691	NP_056506	Q9ULE0	WWC3_HUMAN	Homo sapiens WWC family member 3 (WWC3), mRNA.	352	Ser-rich.									NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						CCTCCAGTCCCAGTTAAAAAG	0.418000														67			54		0	0	0.014410	0	0
SSPO	23145	broad.mit.edu	37	7	149474858	149474858	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:149474858C>T	uc010lpk.3	+	4	657	c.657C>T	c.(655-657)taC>taT	p.Y219Y	SSPO_uc010lpl.1_Intron	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	219	VWFD 1.				cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GCTGCACCTACCTGCTGGCGG	0.682000														6			8		0	0	0.004482	0	0
DSP	1832	broad.mit.edu	37	6	7583110	7583110	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr6:7583110C>T	uc003mxp.1	+	23	5894	c.5615C>T	c.(5614-5616)tCc>tTc	p.S1872F	DSP_uc003mxq.1_Missense_Mutation_p.S1273F|DSP_uc021yle.1_Missense_Mutation_p.S1429F	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	1872	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		ACTCAATATTCCCGCAAGGAG	0.453000														57			40		0	0	0.005524	0	0
C7orf62	219557	broad.mit.edu	37	7	88423732	88423732	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:88423732G>A	uc003ujv.3	-	1	707	c.525C>T	c.(523-525)ctC>ctT	p.L175L	ZNF804B_uc011khi.2_Intron|C7orf62_uc022ahc.1_Silent_p.L175L	NM_152706	NP_689919	Q8TBZ9	CG062_HUMAN	Homo sapiens chromosome 7 open reading frame 62 (C7orf62), mRNA.	175								p.L175fs*15(1)		NS(1)|breast(1)|endometrium(3)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	30						GAGTTTGTGTGAGAAAATCTG	0.423000														95			44		0	0	0.014410	0	0
LRRC3B	116135	broad.mit.edu	37	3	26751401	26751401	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:26751401C>T	uc003cdp.3	+	1	827	c.238C>T	c.(238-240)Ccc>Tcc	p.P80S	LRRC3B_uc003cdq.3_Missense_Mutation_p.P80S|LRRC3B_uc021wuj.1_Missense_Mutation_p.P80S	NM_052953	NP_443185	Q96PB8	LRC3B_HUMAN	Homo sapiens leucine rich repeat containing 3B (LRRC3B), mRNA.	80						integral to membrane		p.P80P(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	21						CACATCTATTCCCAATGAAAT	0.403000														27			17		0	0	0.004007	0	0
SMARCB1	6598	broad.mit.edu	37	22	24167437	24167437	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr22:24167437C>T	uc002zyd.3	+	6	1055	c.848C>T	c.(847-849)tCc>tTc	p.S283F	SMARCB1_uc002zya.3_Intron|SMARCB1_uc002zyb.3_Missense_Mutation_p.S274F|SMARCB1_uc002zyc.3_Missense_Mutation_p.S265F	NM_001007468	NP_001007469	Q12824	SNF5_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 (SMARCB1), transcript variant 2, mRNA.	274	2 X approximate tandem repeats.				DNA integration|cell cycle|chromatin remodeling|interspecies interaction between organisms|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|retroviral genome replication|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex|nucleolus|nucleoplasm	p53 binding	p.?(6)|p.M283fs*77(1)|p.L266_*386del(1)		bone(4)|central_nervous_system(198)|endometrium(4)|haematopoietic_and_lymphoid_tissue(25)|kidney(3)|large_intestine(5)|liver(2)|lung(5)|meninges(5)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|soft_tissue(194)	458		Medulloblastoma(6;2.2e-09)|all_neural(6;2.73e-05)				GGAAACATTTCCCTGGTGGAC	0.572000			"""D, N, F, S"""		malignant rhabdoid	malignant rhabdoid								41			24		0	0	0.008361	0	0
CUX2	23316	broad.mit.edu	37	12	111785488	111785489	+	Missense_Mutation	DNP	GA	AT	AT			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:111785488_111785489GA>AT	uc001tsa.2	+	21	3974_3975	c.3820_3821GA>AT	c.(3820-3822)gaa>ATa	p.E1274I		NM_015267	NP_056082	O14529	CUX2_HUMAN	Homo sapiens cut-like homeobox 2 (CUX2), mRNA.	1274						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						AACCGTGAAGGAACTGGAGCTT	0.619000														21			11		0	0	0.004672	0	0
FTMT	94033	broad.mit.edu	37	5	121188309	121188309	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:121188309G>A	uc003kss.3	+	0	660	c.651G>A	c.(649-651)aaG>aaA	p.K217K		NM_177478	NP_803431	Q8N4E7	FTMT_HUMAN	Homo sapiens ferritin mitochondrial (FTMT), nuclear gene encoding mitochondrial protein, mRNA.	217	Ferritin-like diiron.				cellular iron ion homeostasis|iron ion transport|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity	mitochondrion	ferric iron binding|ferroxidase activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)		ACTTAGTGAAGATGGGGGCCC	0.507000														86			63		0	0	0.014410	0	0
SEZ6L	23544	broad.mit.edu	37	22	26688826	26688826	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr22:26688826C>T	uc003acb.3	+	1	745	c.549C>T	c.(547-549)ccC>ccT	p.P183P	SEZ6L_uc003acd.3_Silent_p.P183P|SEZ6L_uc011akd.2_Silent_p.P183P|SEZ6L_uc003ace.3_Silent_p.P183P|SEZ6L_uc011akc.2_Silent_p.P183P|SEZ6L_uc003acc.3_Silent_p.P183P|SEZ6L_uc003acf.1_5'UTR|SEZ6L_uc010gvc.1_5'UTR	NM_021115	NP_066938	Q9BYH1	SE6L1_HUMAN	Homo sapiens seizure related 6 homolog (mouse)-like (SEZ6L), transcript variant 1, mRNA.	183						endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						CAGAAGTGCCCCTTTGGCTGG	0.657000														23			24		0	0	0.008361	0	0
GGT1	2678	broad.mit.edu	37	22	25016896	25016896	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr22:25016896G>A	uc003aan.1	+	8	1079	c.592G>A	c.(592-594)Gat>Aat	p.D198N	GGT1_uc003aas.1_Missense_Mutation_p.D198N|GGT1_uc003aat.1_Missense_Mutation_p.D198N|GGT1_uc003aau.2_Missense_Mutation_p.D198N|GGT1_uc003aav.2_Missense_Mutation_p.D198N|GGT1_uc003aaw.2_Missense_Mutation_p.D198N|GGT1_uc003aax.2_Missense_Mutation_p.D198N	NM_013430	NP_038347	P19440	GGT1_HUMAN	Homo sapiens gamma-glutamyltransferase 1 (GGT1), transcript variant 3, mRNA.	198					glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity|protein binding			breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	40					Glutathione(DB00143)	GTTCTGCCGGGATAGAAAGGT	0.642000														16			7		0	0	0.006214	0	0
AHNAK	79026	broad.mit.edu	37	11	62285540	62285541	+	Missense_Mutation	DNP	GG	AA	AA	rs139375615	byFrequency	TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:62285540_62285541GG>AA	uc001ntl.3	-	4	16648_16649	c.16348_16349CC>TT	c.(16348-16350)ccg>TTg	p.P5450L	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.	5450					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GTCCACATTCGGTGCTGAAATC	0.564000														50			33		0	0	0.004672	0	0
KCND2	3751	broad.mit.edu	37	7	119915232	119915232	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:119915232G>A	uc003vjj.1	+	0	1511	c.546G>A	c.(544-546)acG>acA	p.T182T		NM_012281	NP_036413	Q9NZV8	KCND2_HUMAN	Homo sapiens potassium voltage-gated channel, Shal-related subfamily, member 2 (KCND2), mRNA.	182					regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)					ACACCAGCACGATGGCCCTGG	0.602000														20			35		0	0	0.013726	0	0
SLC26A7	115111	broad.mit.edu	37	8	92346639	92346639	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr8:92346639G>A	uc003yez.3	+	5	998	c.759G>A	c.(757-759)agG>agA	p.R253R	SLC26A7_uc003yex.3_Silent_p.R253R|SLC26A7_uc003yey.3_Non-coding_Transcript|SLC26A7_uc003yfa.3_Silent_p.R253R	NM_134266	NP_599028	Q8TE54	S26A7_HUMAN	Homo sapiens solute carrier family 26, member 7 (SLC26A7), transcript variant 2, mRNA.	253						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	p.R253R(3)		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)			AGTTTAAAAGGAAAATTAAAG	0.363000														33			20		0	0	0.010504	0	0
GPR115	221393	broad.mit.edu	37	6	47682281	47682281	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr6:47682281G>A	uc003oyz.1	+	6	1471	c.1471G>A	c.(1471-1473)Gag>Aag	p.E491K	GPR115_uc003oza.1_Missense_Mutation_p.E434K|GPR115_uc003ozb.1_Missense_Mutation_p.E434K|RN7SK_uc021zaf.1_5'Flank	NM_153838	NP_722580	Q8IZF3	GP115_HUMAN	Homo sapiens G protein-coupled receptor 115 (GPR115), mRNA.	434				M -> I (in Ref. 6; AAO85068).	neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						GGTTGTGACGGAGATATCATA	0.483000														73			49		0	0	0.014410	0	0
KCNK5	8645	broad.mit.edu	37	6	39162039	39162039	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr6:39162039G>A	uc003oon.3	-	3	904	c.540C>T	c.(538-540)ttC>ttT	p.F180F		NM_003740	NP_003731	O95279	KCNK5_HUMAN	Homo sapiens potassium channel, subfamily K, member 5 (KCNK5), mRNA.	180					excretion	integral to plasma membrane	potassium channel activity|voltage-gated ion channel activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|skin(3)	19						CCATGAATACGAAGGGTGGGA	0.572000														57			18		0	0	0.012319	0	0
LRFN2	57497	broad.mit.edu	37	6	40400569	40400569	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr6:40400569G>A	uc003oph.1	-	1	749	c.284C>T	c.(283-285)tCc>tTc	p.S95F		NM_020737	NP_065788	Q9ULH4	LRFN2_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 2 (LRFN2), mRNA.	95						cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					GTCCAGAAAGGAAAAGGGCTG	0.602000														33			15		0	0	0.004007	0	0
MLL2	8085	broad.mit.edu	37	19	36211154	36211154	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:36211154C>T	uc021usv.1	+	2	905	c.905C>T	c.(904-906)cCc>cTc	p.P302L	MLL2_uc021usu.1_5'UTR	NM_014727	NP_055542	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 4 (MLL4), mRNA.	744	Cys-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						GGTGGGCTCCCCTTTGTGATC	0.587000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)				12			10		0	0	0.008291	0	0
EPB41L1	2036	broad.mit.edu	37	20	34773072	34773072	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr20:34773072C>T	uc002xfb.3	+	6	771	c.600C>T	c.(598-600)atC>atT	p.I200I	EPB41L1_uc002xeu.3_Silent_p.I138I|EPB41L1_uc010zvo.1_Silent_p.I200I|EPB41L1_uc002xev.3_Silent_p.I200I|EPB41L1_uc002xew.3_Silent_p.I103I|EPB41L1_uc002xex.3_Silent_p.I169I|EPB41L1_uc002xey.3_Intron|EPB41L1_uc002xez.3_Silent_p.I138I	NM_012156	NP_036288	Q9H4G0	E41L1_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1-like 1 (EPB41L1), transcript variant 1, mRNA.	200	FERM.				cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					GGGCAGACATCATCACGGGCC	0.612000														36			22		0	0	0.003330	0	0
RYR3	6263	broad.mit.edu	37	15	33822854	33822854	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr15:33822854C>T	uc001zhi.3	+	3	411	c.341C>T	c.(340-342)tCt>tTt	p.S114F	RYR3_uc010bar.3_Missense_Mutation_p.S114F	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	114	MIR 1.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CTGAGGCACTCTTTCAGCGGA	0.512000														18			11		0	0	0.002450	0	0
SATL1	340562	broad.mit.edu	37	X	84363419	84363419	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:84363419G>A	uc004een.3	-	0	556	c.556C>T	c.(556-558)Cca>Tca	p.P186S		NM_001012980	NP_001012998	Q86VE3	SATL1_HUMAN	Homo sapiens spermidine/spermine N1-acetyl transferase-like 1 (SATL1), mRNA.	242	Gln-rich.						N-acetyltransferase activity			NS(1)|breast(5)|endometrium(2)|large_intestine(3)|lung(13)|skin(3)|stomach(1)|urinary_tract(1)	29						CTCATGTTTGGTTGCCTCAGG	0.552000											OREG0019887	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		58			35		0	0	0.006230	0	0
TNRC6A	27327	broad.mit.edu	37	16	24801035	24801035	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr16:24801035C>T	uc002dmm.3	+	5	1186	c.1072C>T	c.(1072-1074)Cca>Tca	p.P358S	TNRC6A_uc010bxs.3_Missense_Mutation_p.P105S|TNRC6A_uc010vcc.1_Missense_Mutation_p.P105S|TNRC6A_uc002dmn.3_Missense_Mutation_p.P105S|TNRC6A_uc002dmo.3_Missense_Mutation_p.P105S	NM_014494	NP_055309	Q8NDV7	TNR6A_HUMAN	Homo sapiens trinucleotide repeat containing 6A (TNRC6A), mRNA.	358	Ser-rich.|Sufficient for interaction with EIF2C1, EIF2C3 and EIF2C4.|Sufficient for interaction with EIF2C2.				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	RNA binding|nucleotide binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		AGGGTTAAATCCAAGCACTTT	0.453000														64			36		0	0	0.008740	0	0
RNF19A	25897	broad.mit.edu	37	8	101300206	101300206	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr8:101300206G>A	uc003yjj.1	-	2	514	c.197C>T	c.(196-198)tCa>tTa	p.S66L	RNF19A_uc003yjk.1_Missense_Mutation_p.S66L|RNF19A_uc003yjl.1_Missense_Mutation_p.S66L	NM_015435	NP_904355	Q9NV58	RN19A_HUMAN	Homo sapiens ring finger protein 19A (RNF19A), transcript variant 2, mRNA.	66					microtubule cytoskeleton organization|protein modification process	centrosome|integral to membrane	ligase activity|transcription factor binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	30	all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166)		Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525)			GGAGCCTATTGAAATTCTTCT	0.413000														50			48		0	0	0.014410	0	0
KIAA0753	9851	broad.mit.edu	37	17	6531867	6531867	+	Missense_Mutation	SNP	T	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr17:6531867T>A	uc002gde.4	-	2	647	c.288A>T	c.(286-288)agA>agT	p.R96S	KIAA0753_uc010clo.3_5'UTR|KIAA0753_uc010vte.2_5'UTR	NM_014804	NP_055619	Q2KHM9	K0753_HUMAN	Homo sapiens KIAA0753 (KIAA0753), mRNA.	96						centrosome				endometrium(4)|large_intestine(11)|lung(5)|prostate(4)	24				COAD - Colon adenocarcinoma(228;0.157)		CATAGCTAAGTCTCTCTTGGG	0.408000														46			25		0	0	0.004656	0	0
PIP	5304	broad.mit.edu	37	7	142829228	142829228	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:142829228C>T	uc003wcf.1	+	0	55	c.19C>T	c.(19-21)Ctg>Ttg	p.L7L		NM_002652	NP_002643	P12273	PIP_HUMAN	Homo sapiens prolactin-induced protein (PIP), mRNA.	7						extracellular region	actin binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	18	Melanoma(164;0.059)	Ovarian(593;2.82e-05)|Breast(660;0.012)		BRCA - Breast invasive adenocarcinoma(188;0.0026)|LUSC - Lung squamous cell carcinoma(290;0.0733)|Lung(243;0.08)		GCTCCAGCTCCTGTTCAGGGC	0.562000														150			225		0	0	0.014410	0	0
DCC	1630	broad.mit.edu	37	18	51025679	51025679	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr18:51025679G>A	uc002lfe.2	+	26	4526	c.3910G>A	c.(3910-3912)Gga>Aga	p.G1304R	DCC_uc010dpf.2_Missense_Mutation_p.G937R	NM_005215	NP_005206	P43146	DCC_HUMAN	Homo sapiens deleted in colorectal carcinoma (DCC), mRNA.	1304					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)		AGTGAGTGAAGGACCAACTAC	0.502000														28			35		0	0	0.006230	0	0
C8B	732	broad.mit.edu	37	1	57397551	57397551	+	Splice_Site	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:57397551C>T	uc001cyp.3	-	11	1620	c.1553_splice	c.e11-1	p.G518_splice	C8B_uc010oon.2_Splice_Site_p.G456_splice|C8B_uc010ooo.2_Splice_Site_p.G466_splice	NM_000066	NP_000057	P07358	CO8B_HUMAN	Homo sapiens complement component 8, beta polypeptide (C8B), mRNA.	518	EGF-like.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex		p.G518E(1)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						ACAGCGTGATCCTGAGAAGAC	0.502000														3			32		0	0	0.004878	0	0
GNB1L	54584	broad.mit.edu	37	22	19776448	19776448	+	Silent	SNP	G	A	A	rs147234999		TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr22:19776448G>A	uc002zqf.1	-	7	1005	c.768C>T	c.(766-768)atC>atT	p.I256I		NM_053004	NP_443730	Q9BYB4	GNB1L_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), beta polypeptide 1-like (GNB1L), mRNA.	256					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	internal side of plasma membrane|intracellular				breast(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1)	12	Colorectal(54;0.0993)					TGACCTCGGCGATCCCGGGAT	0.642000														23			31		0	0	0.013726	0	0
SLC35F1	222553	broad.mit.edu	37	6	118596645	118596645	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr6:118596645C>T	uc003pxx.4	+	4	862	c.661C>T	c.(661-663)Ctt>Ttt	p.L221F		NM_001029858	NP_001025029	Q5T1Q4	S35F1_HUMAN	Homo sapiens solute carrier family 35, member F1 (SLC35F1), mRNA.	221					transport	integral to membrane		p.D220Y(1)		breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(226;0.217)		GGTAGGGGACCTTCTGGTCTT	0.448000														2			17		0	0	0.004990	0	0
PTPRE	5791	broad.mit.edu	37	10	129875896	129875896	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr10:129875896G>A	uc009yat.3	+	19	2191	c.1774G>A	c.(1774-1776)Gag>Aag	p.E592K	PTPRE_uc001lkb.3_Missense_Mutation_p.E581K|PTPRE_uc009yau.2_Missense_Mutation_p.E581K|PTPRE_uc001lkd.3_Missense_Mutation_p.E523K|PTPRE_uc010quq.1_Missense_Mutation_p.E482K	NM_006504	NP_006495	P23469	PTPRE_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, E (PTPRE), transcript variant 1, mRNA.	581	Tyrosine-protein phosphatase 2.				negative regulation of insulin receptor signaling pathway|protein phosphorylation	cytoplasm|integral to membrane|intermediate filament cytoskeleton|nucleus|plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	22		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)				GGCCCGCCAGGAGGAGCAGGT	0.667000														11			10		0	0	0.001855	0	0
SALL1	6299	broad.mit.edu	37	16	51172696	51172696	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr16:51172696G>A	uc021tif.1	-	1	3468	c.3146C>T	c.(3145-3147)tCg>tTg	p.S1049L	SALL1_uc021tid.1_Missense_Mutation_p.S1049L|SALL1_uc021tie.1_Missense_Mutation_p.S1146L|SALL1_uc010cbv.3_Intron	NM_001127892	NP_001121364	Q9NSC2	SALL1_HUMAN	Homo sapiens sal-like 1 (Drosophila) (SALL1), transcript variant 2, mRNA.	1146					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	DNA binding|beta-catenin binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			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)			CAGGGCACTCGATGAGGAGAA	0.507000														13			9		0	0	0.010729	0	0
MLL3	58508	broad.mit.edu	37	7	151970823	151970823	+	Missense_Mutation	SNP	A	G	G			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:151970823A>G	uc003wla.3	-	6	1198	c.979T>C	c.(979-981)Tgt>Cgt	p.C327R		NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	327					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		TGTTCTGGACAAAGCAGGAAG	0.388000			N		medulloblastoma									229			8		0	0	0.003080	0	0
PAPPA2	60676	broad.mit.edu	37	1	176708800	176708800	+	Missense_Mutation	SNP	T	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:176708800T>A	uc001gkz.3	+	12	5001	c.3837T>A	c.(3835-3837)ttT>ttA	p.F1279L	PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	1279					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						GAGCAATTTTTATTTTTTTGA	0.443000														125			39		0	0	0.010771	0	0
OGDHL	55753	broad.mit.edu	37	10	50947747	50947747	+	Missense_Mutation	SNP	T	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr10:50947747T>A	uc009xog.3	-	15	2394	c.2360A>T	c.(2359-2361)aAt>aTt	p.N787I	OGDHL_uc001jie.3_Missense_Mutation_p.N760I|OGDHL_uc010qgt.2_Missense_Mutation_p.N703I|OGDHL_uc010qgu.2_Missense_Mutation_p.N551I	NM_001143997	NP_001137469	Q9ULD0	OGDHL_HUMAN	Homo sapiens oxoglutarate dehydrogenase-like (OGDHL), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.	760					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						CACAATGCCATTATGCCGCAC	0.642000														27			17		0	0	0.010504	0	0
FLRT2	23768	broad.mit.edu	37	14	86088939	86088939	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr14:86088939C>T	uc021rxf.1	+	0	1081	c.1081C>T	c.(1081-1083)Ccc>Tcc	p.P361S	FLRT2_uc001xvr.3_Missense_Mutation_p.P361S|FLRT2_uc010atd.3_Missense_Mutation_p.P361S	NM_013231	NP_037363	O43155	FLRT2_HUMAN	Homo sapiens fibronectin leucine rich transmembrane protein 2 (FLRT2), mRNA.	361	LRRCT.				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		TTTGTCCTGTCCCACCACGAC	0.557000														57			66		0	0	0.014410	0	0
NYAP2	57624	broad.mit.edu	37	2	226446677	226446677	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:226446677C>T	uc002voe.2	+	3	719	c.544C>T	c.(544-546)Cac>Tac	p.H182Y	NYAP2_uc010fxa.1_Intron|NYAP2_uc002vof.1_5'UTR	NM_020864	NP_065915	Q9P242	K1486_HUMAN	Homo sapiens neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2 (NYAP2), mRNA.	182																	ACCAAGACCCCACAGCGATGA	0.398000														87			63		0	0	0.014410	0	0
CLCN4	1183	broad.mit.edu	37	X	10181893	10181893	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:10181893C>T	uc004csy.4	+	10	2179	c.1749C>T	c.(1747-1749)ttC>ttT	p.F583F	CLCN4_uc011mid.2_Silent_p.F489F	NM_001830	NP_001821	P51793	CLCN4_HUMAN	Homo sapiens chloride channel 4 (CLCN4), mRNA.	583						early endosome membrane|integral to membrane|late endosome membrane	ATP binding|antiporter activity|voltage-gated chloride channel activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GGTACCCTTTCCTTGACGTGA	0.607000														32			36		0	0	0.004289	0	0
ELFN2	114794	broad.mit.edu	37	22	37769772	37769772	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr22:37769772G>A	uc003asq.4	-	2	2589	c.1803C>T	c.(1801-1803)ttC>ttT	p.F601F	ELFN2_uc021wph.1_Silent_p.F601F	NM_052906	NP_443138	Q5R3F8	LRFN6_HUMAN	Homo sapiens extracellular leucine-rich repeat and fibronectin type III domain containing 2 (ELFN2), mRNA.	601						cell surface|integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					GAGGCGAAAGGAAGCTGGGCC	0.706000														4			6		0	0	0.001984	0	0
CHN1	1123	broad.mit.edu	37	2	175677155	175677155	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:175677155C>T	uc002uji.3	-	8	1109	c.768G>A	c.(766-768)aaG>aaA	p.K256K	CHN1_uc010zeq.2_Silent_p.K230K|CHN1_uc002ujj.3_Silent_p.K31K|CHN1_uc002ujg.3_Silent_p.K131K	NM_001822	NP_001813	P15882	CHIN_HUMAN	Homo sapiens chimerin (chimaerin) 1 (CHN1), transcript variant 1, mRNA.	256					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|SH3/SH2 adaptor activity|metal ion binding			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.226)			TCAAGTCTGGCTTACAGTCAT	0.403000			T	TAF15	extraskeletal myxoid chondrosarcoma									40			25		0	0	0.005443	0	0
DKC1	1736	broad.mit.edu	37	X	153997502	153997502	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:153997502G>A	uc004fmm.3	+	8	1042	c.832G>A	c.(832-834)Gat>Aat	p.D278N	DKC1_uc010nvf.3_Missense_Mutation_p.D278N	NM_001363	NP_001354	O60832	DKC1_HUMAN	Homo sapiens dyskeratosis congenita 1, dyskerin (DKC1), transcript variant 1, mRNA.	278					cell proliferation|pseudouridine synthesis|rRNA processing|telomere maintenance via telomerase	Cajal body|nucleolus|telomerase holoenzyme complex	RNA binding|protein binding|pseudouridine synthase activity|telomerase activity			breast(2)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)	15	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TAACCACAAGGATGAGAGTTA	0.433000									Congenital Dyskeratosis					173			78		0	0	0.014410	0	0
MLL2	8085	broad.mit.edu	37	12	49433379	49433379	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:49433379G>A	uc001rta.4	-	31	8068	c.8068C>T	c.(8068-8070)Ctg>Ttg	p.L2690L		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	2690					chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						TGCCGAATCAGCAGCTCTCGT	0.572000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)				10			12		0	0	0.001855	0	0
PCDP1	200373	broad.mit.edu	37	2	120397388	120397388	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:120397388G>A	uc002tmb.3	+	21	2419	c.1307G>A	c.(1306-1308)aGc>aAc	p.S436N		NM_001029996	NP_001025167	Q4G0U5	PCDP1_HUMAN	Homo sapiens primary ciliary dyskinesia protein 1 (PCDP1), mRNA.	722						cilium	calmodulin binding					Colorectal(110;0.196)					CACTGGAAAAGCTTCCAGTCC	0.483000														36			26		0	0	0.005443	0	0
CWH43	80157	broad.mit.edu	37	4	49040068	49040068	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr4:49040068G>A	uc003gyv.3	+	12	1856	c.1674G>A	c.(1672-1674)agG>agA	p.R558R	CWH43_uc011bzl.2_Silent_p.R531R	NM_025087	NP_079363	Q9H720	PG2IP_HUMAN	Homo sapiens cell wall biogenesis 43 C-terminal homolog (S. cerevisiae) (CWH43), mRNA.	558					GPI anchor biosynthetic process	integral to membrane				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						ACCTCGACAGGAAACTGCAGG	0.353000														127			105		0	0	0.014410	0	0
MUC5B	727897	broad.mit.edu	37	11	1270696	1270696	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:1270696G>A	uc001lta.3	+	30	12645	c.12586G>A	c.(12586-12588)Gac>Aac	p.D4196N		NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	4196	7 X Cys-rich subdomain repeats.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		ATGCAGCCTGGACTTTGGCCT	0.632000														50			44		0	0	0.014410	0	0
CCDC22	28952	broad.mit.edu	37	X	49105171	49105171	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:49105171G>A	uc004dnd.2	+	11	1577	c.1407G>A	c.(1405-1407)agG>agA	p.R469R		NM_014008	NP_054727	O60826	CCD22_HUMAN	Homo sapiens coiled-coil domain containing 22 (CCDC22), mRNA.	469										NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	18						AGGCCCGCAGGAAGGAGGAGG	0.607000														10			12		0	0	0.001855	0	0
FAM5C	339479	broad.mit.edu	37	1	190067264	190067264	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:190067264G>A	uc001gse.1	-	7	2417	c.2185C>T	c.(2185-2187)Cgt>Tgt	p.R729C	FAM5C_uc010pot.1_Missense_Mutation_p.R627C	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	Homo sapiens family with sequence similarity 5, member C (FAM5C), mRNA.	729						extracellular region				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					AGTCTATGACGAAGCAAGCAA	0.463000														128			56		0	0	0.014410	0	0
THSD1P1	374500	broad.mit.edu	37	13	52854826	52854826	+	RNA	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr13:52854826C>T	uc001vgm.1	-	4		c.446G>A								Homo sapiens thrombospondin, type I, domain containing 1 pseudogene 1 (THSD1P1), non-coding RNA.																		CCATCACTTTCGTATCACCTT	0.284000														80			23		0	0	0.004656	0	0
ROS1	6098	broad.mit.edu	37	6	117724305	117724305	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr6:117724305C>T	uc003pxp.1	-	5	773	c.574G>A	c.(574-576)Gga>Aga	p.G192R	ROS1_uc011ebi.1_Non-coding_Transcript|ROS1_uc003pxq.1_Intron	NM_002944	NP_002935	P08922	ROS_HUMAN	Homo sapiens c-ros oncogene 1 , receptor tyrosine kinase (ROS1), mRNA.	192					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		ACCATACCTCCATGAGGATGA	0.413000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""									3			42		0	0	0.014410	0	0
AOAH	313	broad.mit.edu	37	7	36633966	36633966	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:36633966C>T	uc022abu.1	-	11	1318	c.917G>A	c.(916-918)gGa>gAa	p.G306E	AOAH_uc003tfh.4_Missense_Mutation_p.G306E|AOAH_uc011kba.2_Missense_Mutation_p.G274E	NM_001177506	NP_001170977	P28039	AOAH_HUMAN	Homo sapiens acyloxyacyl hydrolase (neutrophil) (AOAH), transcript variant 2, mRNA.	306					inflammatory response|lipid metabolic process	extracellular region	acyloxyacyl hydrolase activity|lipoprotein lipase activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	41						GTCCAGAAATCCTGTAGCACC	0.443000														49			56		0	0	0.014410	0	0
NTN4	59277	broad.mit.edu	37	12	96106999	96106999	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:96106999C>T	uc001tei.3	-	3	1431	c.982G>A	c.(982-984)Gag>Aag	p.E328K	NTN4_uc009ztf.3_Missense_Mutation_p.E328K|NTN4_uc009ztg.3_Missense_Mutation_p.E291K	NM_021229	NP_067052	Q9HB63	NET4_HUMAN	Homo sapiens netrin 4 (NTN4), mRNA.	328	Laminin EGF-like 1.				axon guidance	basement membrane|plasma membrane				NS(2)|breast(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						CTTCTGCACTCGTTGGGAGCC	0.502000														22			19		0	0	0.008871	0	0
KLHDC7A	127707	broad.mit.edu	37	1	18809786	18809786	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:18809786G>A	uc001bax.3	+	0	2363	c.2311G>A	c.(2311-2313)Gat>Aat	p.D771N	KLHDC7A_uc009vpg.3_Intron	NM_152375	NP_689588	Q5VTJ3	KLD7A_HUMAN	Homo sapiens kelch domain containing 7A (KLHDC7A), mRNA.	771						integral to membrane				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GCCCACCCCCGATTTGCCTCA	0.657000														5			58		0	0	0.014410	0	0
MEPE	56955	broad.mit.edu	37	4	88766623	88766623	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr4:88766623C>T	uc021xpx.1	+	3	708	c.696C>T	c.(694-696)tcC>tcT	p.S232S	MEPE_uc021xpu.1_Silent_p.S201S|MEPE_uc021xpv.1_Silent_p.S88S|MEPE_uc021xpw.1_Silent_p.S88S|MEPE_uc010ikn.3_Silent_p.S88S|MEPE_uc003hqy.3_Silent_p.S201S|MEPE_uc021xpy.1_Silent_p.S88S	NM_001184697	NP_001171626	Q9NQ76	MEPE_HUMAN	Homo sapiens matrix extracellular phosphoglycoprotein (MEPE), transcript variant 5, mRNA.	201					skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000432)		AAAGAGATTCCCAAGCCCAGA	0.383000														32			29		0	0	0.007291	0	0
GRIA1	2890	broad.mit.edu	37	5	153190778	153190778	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:153190778G>A	uc011dcy.2	+	15	2771	c.2744G>A	c.(2743-2745)gGa>gAa	p.G915E	GRIA1_uc003lva.4_Missense_Mutation_p.G905E|GRIA1_uc003luy.4_Missense_Mutation_p.G905E|GRIA1_uc003luz.4_Missense_Mutation_p.G810E|GRIA1_uc011dcv.2_Non-coding_Transcript|GRIA1_uc011dcw.2_Missense_Mutation_p.G825E|GRIA1_uc011dcx.2_Missense_Mutation_p.G836E|GRIA1_uc011dcz.2_Missense_Mutation_p.G915E	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	Homo sapiens glutamate receptor, ionotropic, AMPA 1 (GRIA1), transcript variant 2, mRNA.	905					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	PDZ domain binding|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	GGAGCCACGGGATTGTAACTG	0.557000														8			13		0	0	0.002450	0	0
FRMD4A	55691	broad.mit.edu	37	10	13698879	13698879	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr10:13698879G>A	uc001ims.3	-	21	3062	c.2710C>T	c.(2710-2712)Ctg>Ttg	p.L904L	FRMD4A_uc009xjf.1_Silent_p.L904L	NM_018027	NP_060497	Q9P2Q2	FRM4A_HUMAN	Homo sapiens FERM domain containing 4A (FRMD4A), mRNA.	904						cytoplasm|cytoskeleton	binding			breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						GGAGTCCGCAGGATCTGCGAT	0.746000														1			5		0	0	0.000602	0	0
LOC440040	440040	broad.mit.edu	37	11	49597902	49597902	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:49597902C>T	uc010rhy.2	+	1	493	c.15C>T	c.(13-15)atC>atT	p.I5I	LOC440040_uc009ymb.3_Silent_p.I5I					Homo sapiens glutamate receptor, metabotropic 5 pseudogene (LOC440040), non-coding RNA.																		TGGGTGACATCATTATTGGAG	0.498000														14			23		0	0	0.002780	0	0
MYOM2	9172	broad.mit.edu	37	8	1998971	1998971	+	Missense_Mutation	SNP	G	A	A	rs148337899		TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr8:1998971G>A	uc003wpx.4	+	1	229	c.91G>A	c.(91-93)Gaa>Aaa	p.E31K	MYOM2_uc011kwi.2_Intron	NM_003970	NP_003961	P54296	MYOM2_HUMAN	Homo sapiens myomesin (M-protein) 2, 165kDa (MYOM2), mRNA.	31					muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		CCTGCTGGACGAATATGCGTC	0.493000														16			16		0	0	0.004990	0	0
CCR8	1237	broad.mit.edu	37	3	39374688	39374688	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:39374688C>T	uc010hhr.2	+	1	1004	c.866C>T	c.(865-867)tCc>tTc	p.S289F	CCR8_uc003cjm.2_Missense_Mutation_p.S206F|CCR8_uc021wwe.1_Missense_Mutation_p.S289F	NM_005201	NP_005192	P51685	CCR8_HUMAN	Homo sapiens chemokine (C-C motif) receptor 8 (CCR8), mRNA.	289					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)		GAAATCATTTCCTTTACTCAC	0.423000														21			28		0	0	0.008361	0	0
PTPRN2	5799	broad.mit.edu	37	7	157414156	157414156	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:157414156C>T	uc003wno.3	-	14	2363	c.2242G>A	c.(2242-2244)Gag>Aag	p.E748K	PTPRN2_uc003wnp.3_Missense_Mutation_p.E731K|PTPRN2_uc003wnq.3_Missense_Mutation_p.E719K|PTPRN2_uc003wnr.3_Missense_Mutation_p.E710K|PTPRN2_uc011kwa.2_Missense_Mutation_p.E771K	NM_002847	NP_002838	Q92932	PTPR2_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, N polypeptide 2 (PTPRN2), transcript variant 1, mRNA.	748	Tyrosine-protein phosphatase.					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		GCTTCCCACTCCTTCTCCAGC	0.627000														84			170		0	0	0.014410	0	0
TPTE	7179	broad.mit.edu	37	21	10910308	10910308	+	Splice_Site	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr21:10910308G>A	uc002yip.1	-	22	1817	c.1449_splice	c.e22+1	p.S483_splice	TPTE_uc002yis.1_Splice_Site|TPTE_uc002yiq.1_Splice_Site_p.S465_splice|TPTE_uc002yir.1_Splice_Site_p.S445_splice|TPTE_uc010gkv.1_Splice_Site_p.S345_splice	NM_199261	NP_954870	P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA.	483	C2 tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ATTACTCACCGAATAGAAAAA	0.373000														122			16		0	0	0.010504	0	0
SLCO4C1	353189	broad.mit.edu	37	5	101592859	101592859	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:101592859C>T	uc003knm.3	-	7	1716	c.1429G>A	c.(1429-1431)Gaa>Aaa	p.E477K		NM_180991	NP_851322	Q6ZQN7	SO4C1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 4C1 (SLCO4C1), mRNA.	477					cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		GGCTCATTTTCACATTTGGCA	0.323000														26			25		0	0	0.004656	0	0
SLC37A3	84255	broad.mit.edu	37	7	140080110	140080110	+	Missense_Mutation	SNP	A	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:140080110A>T	uc003vvo.3	-	2	336	c.170T>A	c.(169-171)tTt>tAt	p.F57Y	SLC37A3_uc003vvp.3_Missense_Mutation_p.F57Y|SLC37A3_uc010lnh.3_Missense_Mutation_p.F57Y|SLC37A3_uc011kqz.2_Non-coding_Transcript|SLC37A3_uc011kra.1_Missense_Mutation_p.F57Y|SLC37A3_uc011krb.1_Missense_Mutation_p.F57Y	NM_207113	NP_996996	Q8NCC5	SPX3_HUMAN	Homo sapiens solute carrier family 37 (glycerol-3-phosphate transporter), member 3 (SLC37A3), transcript variant 1, mRNA.	57					carbohydrate transport|transmembrane transport	integral to membrane				endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|stomach(3)	24	Melanoma(164;0.0142)					TGACGTGTTAAAAGCACTTGG	0.458000														36			24		0	0	0.008361	0	0
KRT6B	3854	broad.mit.edu	37	12	52840992	52840992	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:52840992C>T	uc001sak.3	-	8	1725	c.1677G>A	c.(1675-1677)agG>agA	p.R559R		NM_005555	NP_005546	P04259	K2C6B_HUMAN	Homo sapiens keratin 6B (KRT6B), mRNA.	559	Tail.				ectoderm development	keratin filament	structural constituent of cytoskeleton			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2)	40				BRCA - Breast invasive adenocarcinoma(357;0.083)		TGTAGCTCTTCCTGCTGGAGG	0.617000														37			24		0	0	0.007291	0	0
BC067347	0	broad.mit.edu	37	17	20744515	20744515	+	RNA	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr17:20744515C>T	uc010crb.2	+	0		c.175C>T								Homo sapiens cDNA clone IMAGE:6269068, partial cds.																		GGACCGCCCCCTTGGGGACCC	0.736000														8			15		0	0	0.002450	0	0
SYNJ1	8867	broad.mit.edu	37	21	34072229	34072229	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr21:34072229G>A	uc002yqh.2	-	3	515	c.515C>T	c.(514-516)tCt>tTt	p.S172F	SYNJ1_uc011ads.1_Missense_Mutation_p.S133F|SYNJ1_uc002yqf.2_Missense_Mutation_p.S133F|SYNJ1_uc002yqg.2_Missense_Mutation_p.S133F|SYNJ1_uc002yqi.2_Missense_Mutation_p.S172F	NM_003895	NP_003886	O43426	SYNJ1_HUMAN	Homo sapiens synaptojanin 1 (SYNJ1), transcript variant 1, mRNA.	133	SAC.						RNA binding|inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						GCCAGATGCAGACCATGCAAA	0.383000														14			13		0	0	0.001855	0	0
SYCE2	256126	broad.mit.edu	37	19	13015451	13015451	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:13015451C>T	uc002mvr.2	-	2	176	c.161G>A	c.(160-162)gGg>gAg	p.G54E		NM_001105578	NP_001099048	Q6PIF2	SYCE2_HUMAN	Homo sapiens synaptonemal complex central element protein 2 (SYCE2), mRNA.	54					cell division	central element				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1)	8						TCCCGACTTCCCTTCCAGGAC	0.552000														64			55		0	0	0.014410	0	0
TOP2A	7153	broad.mit.edu	37	17	38568058	38568058	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr17:38568058G>A	uc002huq.3	-	7	961	c.802C>T	c.(802-804)Cgt>Tgt	p.R268C	TOP2A_uc002hur.1_5'Flank	NM_001067	NP_001058	P11388	TOP2A_HUMAN	Homo sapiens topoisomerase (DNA) II alpha 170kDa (TOP2A), mRNA.	268					DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|apoptotic chromosome condensation|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation	DNA topoisomerase complex (ATP-hydrolyzing)|cytoplasm|nucleolus|nucleoplasm|synaptonemal complex	ATP binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|chromatin binding|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00183)		Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)	ACATAACTACGAAATCCTTTT	0.343000														27			13		0	0	0.013537	0	0
RELN	5649	broad.mit.edu	37	7	103162566	103162566	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:103162566C>T	uc022ajr.1	-	47	7731	c.7571G>A	c.(7570-7572)cGa>cAa	p.R2524Q	RELN_uc022ajq.1_Missense_Mutation_p.R2524Q|RELN_uc010liz.3_Missense_Mutation_p.R2524Q	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	2524					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	p.R2524R(1)		NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		GGATGGAGCTCGATTGAAGTT	0.547000														57			23		0	0	0.014323	0	0
TNXB	7148	broad.mit.edu	37	6	32015760	32015760	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr6:32015760C>T	uc003nzl.2	-	29	10271	c.10069G>A	c.(10069-10071)Ggg>Agg	p.G3357R	TNXB_uc003nzg.1_5'Flank|TNXB_uc003nzh.1_5'Flank	NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	3404	Fibronectin type-III 25.				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						GTCAGCTCCCCCAGGCGGGGA	0.612000														268			128		0	0	0.014410	0	0
PKD1	5310	broad.mit.edu	37	16	2161784	2161784	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr16:2161784G>A	uc002cos.1	-	14	3593	c.3384C>T	c.(3382-3384)tcC>tcT	p.S1128S	TCRBV20S1_uc021tak.1_Intron|PKD1_uc002cot.1_Silent_p.S1128S	NM_001009944	NP_001009944	P98161	PKD1_HUMAN	Homo sapiens polycystic kidney disease 1 (autosomal dominant) (PKD1), transcript variant 1, mRNA.	1128	PKD 5.|PKD 6.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding	p.S1128T(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CCACAGCCACGGAGGGCAGGG	0.672000														8			6		0	0	0.001168	0	0
SF1	7536	broad.mit.edu	37	11	64534462	64534462	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:64534462G>A	uc001obb.2	-	11	1944	c.1492C>T	c.(1492-1494)Ccc>Tcc	p.P498S	SF1_uc010rnm.2_Missense_Mutation_p.P190S|SF1_uc010rnn.2_Missense_Mutation_p.P472S|SF1_uc001oaz.2_Missense_Mutation_p.P623S|SF1_uc001oba.2_Missense_Mutation_p.P498S|SF1_uc001obd.2_Missense_Mutation_p.S499F|SF1_uc001obc.2_Missense_Mutation_p.P498S|SF1_uc001obe.2_Missense_Mutation_p.S384F|SF1_uc010rno.2_Missense_Mutation_p.P383S|SF1_uc021qky.1_5'Flank	NM_004630	NP_001171502	Q15637	SF01_HUMAN	Homo sapiens splicing factor 1 (SF1), transcript variant 1, mRNA.	498	Pro-rich.				nuclear mRNA 3'-splice site recognition|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ribosome|spliceosomal complex	RNA binding|protein binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	31						TGCCATGGGGGAAGAGGACCA	0.662000														26			37		0	0	0.004878	0	0
FGA	2243	broad.mit.edu	37	4	155509998	155509998	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr4:155509998G>A	uc003iod.1	-	2	369	c.311C>T	c.(310-312)tCg>tTg	p.S104L	FGA_uc003ioe.1_Missense_Mutation_p.S104L|FGA_uc003iof.1_Missense_Mutation_p.S104L	NM_000508	NP_000499	P02671	FIBA_HUMAN	Homo sapiens fibrinogen alpha chain (FGA), transcript variant alpha-E, mRNA.	104					platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	AGTGGTCAACGAATGAGAATC	0.294000														98			88		0	0	0.014410	0	0
HEATR7B2	133558	broad.mit.edu	37	5	41004526	41004526	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:41004526G>A	uc003jmj.4	-	36	4606	c.4116C>T	c.(4114-4116)atC>atT	p.I1372I	HEATR7B2_uc003jmi.4_Silent_p.I927I	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	1372							binding	p.I1372T(1)		breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4)	133						GCAGCTCCAGGATTTTTTTTA	0.438000														52			51		0	0	0.014410	0	0
C1orf173	127254	broad.mit.edu	37	1	75036996	75036996	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:75036996C>T	uc001dgg.3	-	13	4617	c.4398G>A	c.(4396-4398)caG>caA	p.Q1466Q		NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	1466	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						CTCCTGTCTCCTGCCTCCCAT	0.587000														10			100		0	0	0.014410	0	0
RANBP3	8498	broad.mit.edu	37	19	5932511	5932511	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:5932511G>A	uc002mdw.3	-	6	744	c.517C>T	c.(517-519)Cgc>Tgc	p.R173C	RANBP3_uc002mdv.3_5'UTR|RANBP3_uc002mdx.3_Missense_Mutation_p.R173C|RANBP3_uc002mdy.3_Missense_Mutation_p.R105C|RANBP3_uc002mdz.3_Missense_Mutation_p.R105C|RANBP3_uc010duq.3_Missense_Mutation_p.R83C|RANBP3_uc010xix.2_Missense_Mutation_p.R45C	NM_007322	NP_015561	Q9H6Z4	RANB3_HUMAN	Homo sapiens RAN binding protein 3 (RANBP3), transcript variant RANBP3-d, mRNA.	173					intracellular transport|protein transport	cytoplasm|nucleus	Ran GTPase binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	18						ACTGCCGGGCGAAGCACGCTC	0.667000														50			35		0	0	0.006999	0	0
XIRP2	129446	broad.mit.edu	37	2	168074691	168074691	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:168074691G>A	uc002udx.3	+	4	828	c.739G>A	c.(739-741)Gaa>Aaa	p.E247K	XIRP2_uc010fpn.3_Missense_Mutation_p.E280K|XIRP2_uc010fpo.3_Missense_Mutation_p.E247K|XIRP2_uc002udy.3_Missense_Mutation_p.E72K|XIRP2_uc010fpq.3_Missense_Mutation_p.E25K|XIRP2_uc010fpr.3_Missense_Mutation_p.E25K	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	72					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GGAAGAATCAGAAATGTGCGC	0.378000														40			34		0	0	0.004878	0	0
PRAMEF1	65121	broad.mit.edu	37	1	12855621	12855621	+	Missense_Mutation	SNP	A	C	C			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:12855621A>C	uc001auj.2	+	3	1004	c.901A>C	c.(901-903)Act>Cct	p.T301P		NM_023013	NP_075389	O95521	PRAM1_HUMAN	Homo sapiens PRAME family member 1 (PRAMEF1), mRNA.	301										cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CTTGGAATTAACTTATGGCTA	0.473000														7			88		0	0	0.014410	0	0
PCK1	5105	broad.mit.edu	37	20	56140524	56140524	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr20:56140524C>T	uc002xyn.4	+	9	1696	c.1533C>T	c.(1531-1533)atC>atT	p.I511I	PCK1_uc010zzm.2_Silent_p.I194I	NM_002591	NP_002582	P35558	PCKGC_HUMAN	Homo sapiens phosphoenolpyruvate carboxykinase 1 (soluble) (PCK1), mRNA.	511					gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	GTP binding|carboxylic acid 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)			TGCCCAAGATCTTCCATGTCA	0.562000														30			22		0	0	0.002780	0	0
VAC14	55697	broad.mit.edu	37	16	70820255	70820255	+	Missense_Mutation	SNP	A	G	G			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr16:70820255A>G	uc002ezm.3	-	1	376	c.118T>C	c.(118-120)Ttc>Ctc	p.F40L	VAC14_uc010cfw.3_Intron|VAC14_uc002ezn.3_5'UTR|TRNA_Gly_uc021tko.1_5'Flank	NM_018052	NP_060522	Q08AM6	VAC14_HUMAN	Homo sapiens Vac14 homolog (S. cerevisiae) (VAC14), mRNA.	40					interspecies interaction between organisms	endoplasmic reticulum|endosome membrane|microsome	protein binding|receptor activity			breast(2)|endometrium(2)|kidney(10)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Ovarian(137;0.0699)				TGGGCCACGAACTCCCGGACC	0.617000														30			24		0	0	0.005443	0	0
GABRA6	2559	broad.mit.edu	37	5	161115987	161115987	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:161115987C>T	uc003lyu.2	+	3	596	c.258C>T	c.(256-258)acC>acT	p.T86T	GABRA6_uc003lyv.2_5'Flank	NM_000811	NP_000802	Q16445	GBRA6_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 6 (GABRA6), mRNA.	86					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TCCGCCAGACCTGGACTGATG	0.403000										TCGA Ovarian(5;0.080)				57			30		0	0	0.008740	0	0
ESRRG	2104	broad.mit.edu	37	1	216850662	216850662	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:216850662C>T	uc001hkw.2	-	1	401	c.228G>A	c.(226-228)caG>caA	p.Q76Q	ESRRG_uc009xdp.1_Silent_p.Q53Q|ESRRG_uc001hky.1_Silent_p.Q53Q|ESRRG_uc001hkz.2_Silent_p.Q53Q|ESRRG_uc010puc.2_Silent_p.Q53Q|ESRRG_uc001hla.2_Silent_p.Q53Q|ESRRG_uc001hlb.2_Silent_p.Q53Q|ESRRG_uc010pud.2_Intron|ESRRG_uc021pja.1_Intron|ESRRG_uc001hlc.1_Silent_p.Q53Q|ESRRG_uc001hld.1_Silent_p.Q53Q|ESRRG_uc001hkx.2_Silent_p.Q81Q|ESRRG_uc009xdo.2_Silent_p.Q53Q|ESRRG_uc001hle.2_Silent_p.Q53Q|ESRRG_uc021piz.1_Silent_p.Q53Q	NM_001438	NP_001230435	P62508	ERR3_HUMAN	Homo sapiens estrogen-related receptor gamma (ESRRG), transcript variant 1, mRNA.	76					positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	CAAGTCCGTTCTGATGGCCAT	0.572000														2			91		0	0	0.014410	0	0
CHST13	166012	broad.mit.edu	37	3	126261167	126261167	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:126261167C>T	uc003eja.3	+	2	817	c.772C>T	c.(772-774)Cgc>Tgc	p.R258C		NM_152889	NP_690849	Q8NET6	CHSTD_HUMAN	Homo sapiens carbohydrate (chondroitin 4) sulfotransferase 13 (CHST13), mRNA.	258					chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity|chondroitin 4-sulfotransferase activity			central_nervous_system(1)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(114;0.151)		CCACCCGTGTCGCCTCCGCTA	0.716000														3			4		0	0	0.009096	0	0
SOX4	6659	broad.mit.edu	37	6	21595725	21595725	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr6:21595725C>T	uc003ndi.3	+	0	1754	c.960C>T	c.(958-960)gaC>gaT	p.D320D		NM_003107	NP_003098	Q06945	SOX4_HUMAN	Homo sapiens SRY (sex determining region Y)-box 4 (SOX4), mRNA.	320					DNA damage response, detection of DNA damage|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|T cell differentiation|canonical Wnt receptor signaling pathway|cardiac ventricle formation|cellular response to glucose stimulus|glial cell development|glial cell proliferation|limb bud formation|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein export from nucleus|negative regulation of protein ubiquitination|neural tube formation|neuroepithelial cell differentiation|noradrenergic neuron differentiation|positive regulation of N-terminal peptidyl-lysine acetylation|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|positive regulation of insulin secretion|positive regulation of translation|pro-B cell differentiation|protein stabilization|skeletal system development|spinal cord motor neuron differentiation|sympathetic nervous system development	mitochondrion|nucleus	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity|core promoter sequence-specific DNA binding|protein binding			kidney(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	6	Ovarian(93;0.163)		all cancers(50;0.0751)|Epithelial(50;0.155)			ACCCCAGCGACCCCCTGGGCC	0.776000														10			5		0	0	0.001168	0	0
APOB	338	broad.mit.edu	37	2	21228558	21228558	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:21228558C>T	uc002red.3	-	25	11310	c.11182G>A	c.(11182-11184)Gat>Aat	p.D3728N		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	3728				D -> N (in Ref. 24; AAA51742).	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)	ATGAATTTATCAGCCAAAACT	0.413000														291			253		0	0	0.014410	0	0
C1QTNF3	114899	broad.mit.edu	37	5	34033477	34033477	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:34033477G>A	uc003jio.3	-	2	643	c.502C>T	c.(502-504)Cga>Tga	p.R168*	C1QTNF3_uc003jin.3_Nonsense_Mutation_p.R95*	NM_181435	NP_852100	Q9BXJ4	C1QT3_HUMAN	Homo sapiens C1q and tumor necrosis factor related protein 3 (C1QTNF3), transcript variant 2, mRNA.	95	C1q.					collagen		p.P167L(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|prostate(3)|stomach(1)|urinary_tract(1)	17	all_lung(31;0.0207)					CGCTCCCCTCGAGGCCCCAGG	0.562000														41			32		0	0	0.003271	0	0
CHMP4C	92421	broad.mit.edu	37	8	82667641	82667641	+	Silent	SNP	C	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr8:82667641C>A	uc003ycl.3	+	2	579	c.405C>A	c.(403-405)atC>atA	p.I135I		NM_152284	NP_689497	Q96CF2	CHM4C_HUMAN	Homo sapiens charged multivesicular body protein 4C (CHMP4C), mRNA.	135	Intramolecular interaction with C- terminus (By similarity).				cellular membrane organization|endosome transport|protein transport	cytosol|late endosome membrane	protein binding			NS(1)|breast(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(2)|skin(1)	10						TGCAAGAGATCACAGAGCAAC	0.338000														23			15		1.15088e-07	1.55201e-07	0.004007	1	0
PLCL2	23228	broad.mit.edu	37	3	17056385	17056385	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:17056385C>T	uc011awc.2	+	3	3072	c.2976C>T	c.(2974-2976)atC>atT	p.I992I	PLCL2_uc011awd.2_Silent_p.I874I	NM_001144382	NP_001137854	Q9UPR0	PLCL2_HUMAN	Homo sapiens phospholipase C-like 2 (PLCL2), transcript variant 1, mRNA.	1000					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						TGAAGAAGATCGTAACAACTT	0.483000														60			46		0	0	0.011902	0	0
MACC1	346389	broad.mit.edu	37	7	20201451	20201451	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:20201451C>T	uc003sus.4	-	3	344	c.35G>A	c.(34-36)gGa>gAa	p.G12E	MACC1_uc010kug.3_Missense_Mutation_p.G12E	NM_182762	NP_877439	Q6ZN28	MACC1_HUMAN	Homo sapiens metastasis associated in colon cancer 1 (MACC1), mRNA.	12					positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	growth factor activity			endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						TGCAATTCTTCCTGACCGAAA	0.333000														121			107		0	0	0.014410	0	0
ETNK1	55500	broad.mit.edu	37	12	22826574	22826574	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:22826574C>T	uc001rft.3	+	5	1214	c.1192C>T	c.(1192-1194)Caa>Taa	p.Q398*	ETNK1_uc009ziz.3_Nonsense_Mutation_p.Q398*	NM_018638	NP_061108	Q9HBU6	EKI1_HUMAN	Homo sapiens ethanolamine kinase 1 (ETNK1), transcript variant 1, mRNA.	398					phosphatidylethanolamine biosynthetic process	cytoplasm	ATP binding|ethanolamine kinase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						ACTCTTCATTCAAGTCAATCA	0.353000														21			25		0	0	0.003954	0	0
ART1	417	broad.mit.edu	37	11	3680495	3680495	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:3680495G>A	uc001lye.1	+	1	153	c.52G>A	c.(52-54)Gaa>Aaa	p.E18K	ART1_uc009yeb.1_Missense_Mutation_p.E18K	NM_004314	NP_004305	P52961	NAR1_HUMAN	Homo sapiens ADP-ribosyltransferase 1 (ART1), mRNA.	18					protein ADP-ribosylation	anchored to membrane|integral to plasma membrane|sarcoplasmic reticulum membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity			endometrium(1)|large_intestine(2)|liver(1)|lung(3)|skin(1)	8		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0351)|LUSC - Lung squamous cell carcinoma(625;0.195)	Becaplermin(DB00102)	GGGCCTCATGGAAGCACTTCA	0.547000														32			33		0	0	0.006999	0	0
PTPRE	5791	broad.mit.edu	37	10	129866536	129866536	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr10:129866536C>T	uc009yat.3	+	12	1443	c.1026C>T	c.(1024-1026)atC>atT	p.I342I	PTPRE_uc001lkb.3_Silent_p.I331I|PTPRE_uc010qup.1_Non-coding_Transcript|PTPRE_uc009yau.2_Silent_p.I331I|PTPRE_uc001lkd.3_Silent_p.I273I|PTPRE_uc010quq.1_Silent_p.I232I	NM_006504	NP_006495	P23469	PTPRE_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, E (PTPRE), transcript variant 1, mRNA.	331	Tyrosine-protein phosphatase 1.				negative regulation of insulin receptor signaling pathway|protein phosphorylation	cytoplasm|integral to membrane|intermediate filament cytoskeleton|nucleus|plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	22		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)				CTGGGCCCATCGTGGTCCACT	0.612000														23			20		0	0	0.014323	0	0
HLA-DQA1	3117	broad.mit.edu	37	6	32610394	32610394	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr6:32610394G>A	uc003obr.3	+	3	674	c.621G>A	c.(619-621)gaG>gaA	p.E207E	HLA-DQA1_uc003obs.3_Non-coding_Transcript|HLA-DQA1_uc003obt.1_3'UTR|HLA-DQA1_uc003obu.3_Non-coding_Transcript|HLA-DQA1_uc021yvy.1_5'Flank	NM_002122	NP_002113	P01909	DQA1_HUMAN	Homo sapiens major histocompatibility complex, class II, DQ alpha 1 (HLA-DQA1), mRNA.	206	Connecting peptide.				T cell costimulation|T cell receptor signaling pathway|antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway	Golgi apparatus|MHC class II protein complex|endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane|lysosomal membrane	MHC class II receptor activity			NS(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6						CAGAGCCTGAGATTCCAGCCC	0.547000														31			8		0	0	0.013537	0	0
CD163	9332	broad.mit.edu	37	12	7635594	7635594	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:7635594G>A	uc001qsz.3	-	12	3223	c.3095C>T	c.(3094-3096)tCa>tTa	p.S1032L	CD163_uc001qta.3_Missense_Mutation_p.S1032L|CD163_uc009zfw.2_Missense_Mutation_p.S1065L	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	Homo sapiens CD163 molecule (CD163), transcript variant 1, mRNA.	1032					acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						TTTCTGCACTGAAATATCTGT	0.358000														56			40		0	0	0.013114	0	0
CC2D2A	57545	broad.mit.edu	37	4	15518298	15518298	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr4:15518298C>T	uc010idv.2	+	11	1313	c.1068C>T	c.(1066-1068)ccC>ccT	p.P356P	CC2D2A_uc003gnx.3_Silent_p.P307P|CC2D2A_uc003gnv.2_Silent_p.P356P|AX746699_uc003gny.1_5'Flank	NM_001080522	NP_001073991	Q9P2K1	C2D2A_HUMAN	Homo sapiens coiled-coil and C2 domain containing 2A (CC2D2A), transcript variant 1, mRNA.	356					cell projection organization	cilium|microtubule basal body				NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|urinary_tract(2)	32						TGCCAAACCCCATCAAGCCAT	0.468000														22			9		0	0	0.004482	0	0
CA9	768	broad.mit.edu	37	9	35675809	35675809	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr9:35675809C>T	uc003zxo.4	+	2	527	c.485C>T	c.(484-486)tCc>tTc	p.S162F	C9orf100_uc003zxl.3_Non-coding_Transcript	NM_001216	NP_001207	Q16790	CAH9_HUMAN	Homo sapiens carbonic anhydrase IX (CA9), mRNA.	162	Catalytic.				one-carbon metabolic process	integral to membrane|microvillus membrane|nucleolus	carbonate dehydratase activity|zinc ion binding			kidney(1)|large_intestine(3)|lung(5)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	17	all_epithelial(49;0.217)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CGCTTCCAGTCCCCGGTGGAT	0.711000														12			7		0	0	0.003080	0	0
MLKL	197259	broad.mit.edu	37	16	74729212	74729212	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr16:74729212G>A	uc002fdb.2	-	1	885	c.444C>T	c.(442-444)ttC>ttT	p.F148F	MLKL_uc002fdc.2_Silent_p.F148F	NM_152649	NP_689862	Q8NB16	MLKL_HUMAN	Homo sapiens mixed lineage kinase domain-like (MLKL), transcript variant 1, mRNA.	148							ATP binding|protein binding|protein kinase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(6)|skin(1)|stomach(2)	19						TTAGCATCTGGAAAGCTCGCC	0.498000														46			40		0	0	0.007835	0	0
LOC440040	440040	broad.mit.edu	37	11	49598031	49598031	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:49598031G>A	uc010rhy.2	+	1	622	c.144G>A	c.(142-144)agG>agA	p.R48R	LOC440040_uc009ymb.3_Silent_p.R48R					Homo sapiens glutamate receptor, metabotropic 5 pseudogene (LOC440040), non-coding RNA.																		CCCTGGAAAGGATCAATTCAG	0.537000														7			7		0	0	0.001984	0	0
PLCB4	5332	broad.mit.edu	37	20	9317854	9317854	+	Splice_Site	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr20:9317854G>A	uc021wam.1	+	2	180	c.165_splice	c.e2+1	p.K55_splice	PLCB4_uc010gbw.1_Splice_Site_p.K55_splice|PLCB4_uc010gbx.3_Splice_Site_p.K55_splice|PLCB4_uc021wal.1_Splice_Site_p.K55_splice	NM_000933	NP_000924	Q15147	PLCB4_HUMAN	Homo sapiens phospholipase C, beta 4 (PLCB4), transcript variant 1, mRNA.	55					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						TGAAGGCAAGGTATGGCCCAA	0.418000														32			25		0	0	0.005443	0	0
TAGAP	117289	broad.mit.edu	37	6	159456927	159456927	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr6:159456927C>T	uc003qrz.3	-	9	2460	c.2128G>A	c.(2128-2130)Gtg>Atg	p.V710M	TAGAP_uc011eft.2_Missense_Mutation_p.V647M|TAGAP_uc003qsa.3_Missense_Mutation_p.V532M	NM_054114	NP_687034	Q8N103	TAGAP_HUMAN	Homo sapiens T-cell activation RhoGTPase activating protein (TAGAP), transcript variant 2, mRNA.	710					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|guanyl-nucleotide exchange factor activity	p.V710M(2)		NS(1)|autonomic_ganglia(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(2)|skin(1)	23		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		CATCGTCGCACGAGACAGTCC	0.577000														24			4		0	0	0.009096	0	0
GBX1	2636	broad.mit.edu	37	7	150845828	150845828	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:150845828C>T	uc011kvg.2	-	1	1172	c.940G>A	c.(940-942)Gcc>Acc	p.A314T		NM_001098834	NP_001092304	Q14549	GBX1_HUMAN	Homo sapiens gastrulation brain homeobox 1 (GBX1), mRNA.	314						nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(5)|skin(1)	7			OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TTCCACTTGGCCCGTCGATTC	0.537000														76			33		0	0	0.003755	0	0
IGF2BP3	10643	broad.mit.edu	37	7	23458423	23458423	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:23458423C>T	uc003swg.3	-	2	523	c.257G>A	c.(256-258)cGa>cAa	p.R86Q	IGF2BP3_uc003swh.1_Non-coding_Transcript	NM_006547	NP_006538	O00425	IF2B3_HUMAN	Homo sapiens insulin-like growth factor 2 mRNA binding protein 3 (IGF2BP3), mRNA.	86	RRM 2.				anatomical structure morphogenesis|negative regulation of translation|translation	cytosol|nucleus	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(2)|prostate(2)|skin(4)|stomach(1)	34						CGGGATATTTCGTATCTGAAG	0.303000														9			12		0	0	0.004007	0	0
ZFX	7543	broad.mit.edu	37	X	24229431	24229431	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:24229431C>T	uc011mjv.2	+	9	2722	c.2473C>T	c.(2473-2475)Cga>Tga	p.R825*	ZFX_uc004dbd.2_Nonsense_Mutation_p.R786*|ZFX_uc004dbf.3_Nonsense_Mutation_p.R786*|ZFX_uc004dbe.3_3'UTR|ZFX_uc022bua.1_Nonsense_Mutation_p.R786*|ZFX_uc010nfx.2_Nonsense_Mutation_p.R557*|ZFX_uc010nfz.3_Nonsense_Mutation_p.R442*	NM_001178086	NP_001171557	P17010	ZFX_HUMAN	Homo sapiens zinc finger protein, X-linked (ZFX), transcript variant 4, mRNA.	786					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						GAAAGGCTTCCGAAGACCTTC	0.438000														39			22		0	0	0.012319	0	0
VPS13D	55187	broad.mit.edu	37	1	12371954	12371954	+	Missense_Mutation	SNP	A	G	G			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:12371954A>G	uc001atv.3	+	28	7048	c.6907A>G	c.(6907-6909)Aga>Gga	p.R2303G	VPS13D_uc001atw.3_Missense_Mutation_p.R2303G|VPS13D_uc001atx.3_Missense_Mutation_p.R1491G|VPS13D_uc001aty.1_Missense_Mutation_p.R41G	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog D (S. cerevisiae) (VPS13D), transcript variant 1, mRNA.	2303					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		AGATCCAAAAAGAAAAGAAGG	0.378000														31			27		0	0	0.006320	0	0
PNLIP	5406	broad.mit.edu	37	10	118306806	118306806	+	Splice_Site	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr10:118306806G>A	uc001lcm.3	+	3	90	c.47_splice	c.e3-1	p.G16_splice		NM_000936	NP_000927	P16233	LIPP_HUMAN	Homo sapiens pancreatic lipase (PNLIP), mRNA.	16					lipid catabolic process|retinoid metabolic process|steroid metabolic process	extracellular region	retinyl-palmitate esterase activity|triglyceride lipase activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	43				all cancers(201;0.0131)	Bentiromide(DB00522)|Orlistat(DB01083)	GGGATTGCAGGAAAAGAAGTT	0.418000														28			24		0	0	0.004656	0	0
PTPRS	5802	broad.mit.edu	37	19	5244244	5244245	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:5244244_5244245GG>AA	uc002mbv.3	-	10	1471_1472	c.1237_1238CC>TT	c.(1237-1239)ccc>TTc	p.P413F	PTPRS_uc002mbu.1_Missense_Mutation_p.P400F|PTPRS_uc010xin.2_Missense_Mutation_p.P400F|PTPRS_uc002mbw.3_Missense_Mutation_p.P400F|PTPRS_uc002mbx.3_Missense_Mutation_p.P404F|PTPRS_uc002mby.3_Missense_Mutation_p.P400F	NM_002850	NP_002841	Q13332	PTPRS_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, S (PTPRS), transcript variant 1, mRNA.	413	Fibronectin type-III 1.				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		GGACTCGCTGGGGGGCCCCTGG	0.678000														22			18		0	0	0.004672	0	0
MYH4	4622	broad.mit.edu	37	17	10348605	10348605	+	Silent	SNP	G	A	A	rs149221663		TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr17:10348605G>A	uc002gmn.3	-	35	5355	c.5244C>T	c.(5242-5244)atC>atT	p.I1748I	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	1748					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						CTTCCTGGACGATGTCCTCCA	0.468000														69			63		0	0	0.014410	0	0
LMX1A	4009	broad.mit.edu	37	1	165218847	165218847	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:165218847G>A	uc001gcz.2	-	3	488	c.294C>T	c.(292-294)ttC>ttT	p.F98F	LMX1A_uc021pdz.1_Silent_p.F98F	NM_001174069	NP_796372	Q8TE12	LMX1A_HUMAN	Homo sapiens LIM homeobox transcription factor 1, alpha (LMX1A), transcript variant 4, mRNA.	98	LIM zinc-binding 2.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35	all_hematologic(923;0.248)					CGATGGCCTCGAAGCAGCCCC	0.542000														0			38		0	0	0.007835	0	0
CDH10	1008	broad.mit.edu	37	5	24488164	24488164	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:24488164C>T	uc003jgr.2	-	11	2481	c.1975G>A	c.(1975-1977)Gat>Aat	p.D659N	CDH10_uc011cnu.2_Non-coding_Transcript	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	Homo sapiens cadherin 10, type 2 (T2-cadherin) (CDH10), mRNA.	659					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		CCACCCTCATCGTTATAGCTC	0.453000										HNSCC(23;0.051)				57			45		0	0	0.014410	0	0
TSSK1B	83942	broad.mit.edu	37	5	112770035	112770035	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:112770035G>A	uc003kqm.2	-	0	694	c.502C>T	c.(502-504)Cga>Tga	p.R168*	MCC_uc003kql.4_Intron	NM_032028	NP_114417	Q9BXA7	TSSK1_HUMAN	Homo sapiens testis-specific serine kinase 1B (TSSK1B), mRNA.	168	Protein kinase.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(8)|ovary(2)|skin(2)|stomach(1)	13		all_cancers(142;0.0138)|all_epithelial(76;0.000445)|Colorectal(10;0.00814)|Prostate(80;0.0115)|Ovarian(225;0.156)		Epithelial(69;4.15e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.49e-08)|all cancers(49;3.2e-06)|COAD - Colon adenocarcinoma(37;0.0371)|Colorectal(14;0.0449)		AATGCCATTCGACCACTGTCA	0.567000														26			23		0	0	0.006320	0	0
MMADHC	27249	broad.mit.edu	37	2	150436117	150436117	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:150436117G>A	uc002txc.3	-	3	405	c.200C>T	c.(199-201)cCt>cTt	p.P67L		NM_015702	NP_056517	Q9H3L0	MMAD_HUMAN	Homo sapiens methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria (MMADHC), nuclear gene encoding mitochondrial protein, mRNA.	67						mitochondrion				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(2)	11						CTGATCTTGAGGTCCAAAGGG	0.433000														21			31		0	0	0.003755	0	0
BMP5	653	broad.mit.edu	37	6	55659080	55659080	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr6:55659080C>T	uc003pcq.3	-	2	1541	c.829G>A	c.(829-831)Gat>Aat	p.D277N	BMP5_uc011dxf.2_Missense_Mutation_p.D277N	NM_021073	NP_066551	P22003	BMP5_HUMAN	Homo sapiens bone morphogenetic protein 5 (BMP5), mRNA.	277					cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			TGCTTACCATCCCCTGTTTCT	0.348000														36			24		0	0	0.014323	0	0
GRIA1	2890	broad.mit.edu	37	5	153030056	153030056	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:153030056C>T	uc011dcy.2	+	3	684	c.657C>T	c.(655-657)ctC>ctT	p.L219L	GRIA1_uc003lva.4_Silent_p.L209L|GRIA1_uc003luy.4_Silent_p.L209L|GRIA1_uc003luz.4_Silent_p.L114L|GRIA1_uc011dcv.2_Non-coding_Transcript|GRIA1_uc011dcw.2_Silent_p.L129L|GRIA1_uc011dcx.2_Silent_p.L140L|GRIA1_uc011dcz.2_Silent_p.L219L|GRIA1_uc010jia.1_Silent_p.L189L	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	Homo sapiens glutamate receptor, ionotropic, AMPA 1 (GRIA1), transcript variant 2, mRNA.	209					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	PDZ domain binding|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CAGAACGCCTCAATGCTATCT	0.522000														31			14		0	0	0.003163	0	0
APOA4	337	broad.mit.edu	37	11	116692365	116692365	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:116692365G>A	uc001pps.1	-	2	513	c.409C>T	c.(409-411)Ccc>Tcc	p.P137S		NM_000482	NP_000473			Homo sapiens apolipoprotein A-IV (APOA4), mRNA.											cervix(1)|endometrium(2)|lung(10)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		TCCGCGTagggctccaggcgc	0.682000														9			70		0	0	0.014410	0	0
NOS1	4842	broad.mit.edu	37	12	117696239	117696239	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:117696239C>T	uc001twn.2	-	15	3205	c.2494G>A	c.(2494-2496)Gaa>Aaa	p.E832K	NOS1_uc021ren.1_Missense_Mutation_p.E496K|NOS1_uc021reo.1_Missense_Mutation_p.E496K|NOS1_uc001twm.2_Missense_Mutation_p.E832K	NM_001204218	NP_001191147	P29475	NOS1_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA.	832	Flavodoxin-like.				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	FMN binding|NADP binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	TGCCTCATTTCCATCAAAGCA	0.498000														34			25		0	0	0.004656	0	0
FAM83B	222584	broad.mit.edu	37	6	54805936	54805936	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr6:54805936G>A	uc003pck.3	+	4	2283	c.2167G>A	c.(2167-2169)Gaa>Aaa	p.E723K		NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN	Homo sapiens family with sequence similarity 83, member B (FAM83B), mRNA.	723										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					GGATGAGGAGGAAGTTACCAA	0.403000														38			25		0	0	0.007291	0	0
PTPRB	5787	broad.mit.edu	37	12	70932012	70932012	+	Splice_Site	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:70932012C>T	uc001swb.4	-	26	5246	c.5216_splice	c.e26-1	p.Y1739_splice	BC031864_uc001svz.3_Non-coding_Transcript|PTPRB_uc010sto.2_Splice_Site_p.Y1649_splice|PTPRB_uc010stp.2_Splice_Site_p.Y1649_splice|PTPRB_uc001swc.4_Splice_Site_p.Y1957_splice|PTPRB_uc001swa.4_Splice_Site_p.Y1869_splice	NM_002837	NP_002828	P23467	PTPRB_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA.	1739	Tyrosine-protein phosphatase.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			GTGGCATCATCTGGAAGGAGA	0.478000														25			43		0	0	0.014410	0	0
MCMBP	79892	broad.mit.edu	37	10	121618633	121618633	+	Missense_Mutation	SNP	G	A	A	rs139316442		TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr10:121618633G>A	uc001ler.2	-	2	503	c.205C>T	c.(205-207)Cgt>Tgt	p.R69C	MCMBP_uc001les.1_5'UTR|MCMBP_uc021pzr.1_5'Flank	NM_024834	NP_079110	Q9BTE3	MCMBP_HUMAN	Homo sapiens minichromosome maintenance complex binding protein (MCMBP), transcript variant 1, mRNA.	69					DNA-dependent DNA replication|S phase of mitotic cell cycle|cell division|mitosis|sister chromatid cohesion	nucleus	chromatin binding			breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(2)|skin(2)	21						ATCATGCAACGAAATTTCACA	0.343000														27			26		0	0	0.003330	0	0
PSKH2	85481	broad.mit.edu	37	8	87076231	87076231	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr8:87076231C>T	uc011lfy.2	-	1	815	c.815G>A	c.(814-816)aGg>aAg	p.R272K		NM_033126	NP_149117	Q96QS6	KPSH2_HUMAN	Homo sapiens protein serine kinase H2 (PSKH2), mRNA.	272	Protein kinase.						ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|kidney(11)|large_intestine(2)|lung(26)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(1)	47			STAD - Stomach adenocarcinoma(118;0.129)			CAGAATCTTCCTGTAAAGCCT	0.413000														18			17		0	0	0.012319	0	0
GRXCR1	389207	broad.mit.edu	37	4	42964963	42964963	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr4:42964963C>T	uc003gwt.3	+	1	440	c.439C>T	c.(439-441)Cgt>Tgt	p.R147C		NM_001080476	NP_001073945	A8MXD5	GRCR1_HUMAN	Homo sapiens glutaredoxin, cysteine rich 1 (GRXCR1), mRNA.	147	Glutaredoxin.				cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development	kinocilium|stereocilium	electron carrier activity|protein disulfide oxidoreductase activity	p.R147L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1)	32						CACCTGCCTTCGTGTGGTCCG	0.388000														48			54		0	0	0.014410	0	0
TTN	7273	broad.mit.edu	37	2	179588019	179588019	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:179588019G>A	uc021vsy.1	-	71	18208	c.17983C>T	c.(17983-17985)Cat>Tat	p.H5995Y	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.H2656Y	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	6922	Ig-like 41.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.A5994T(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTACAGAATGATCACTTAAT	0.388000														24			16		0	0	0.006122	0	0
MYBL2	4605	broad.mit.edu	37	20	42328579	42328579	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr20:42328579C>T	uc002xlb.1	+	6	1061	c.846C>T	c.(844-846)tcC>tcT	p.S282S	MYBL2_uc010zwj.1_Silent_p.S258S	NM_002466	NP_002457	P10244	MYBB_HUMAN	Homo sapiens v-myb myeloblastosis viral oncogene homolog (avian)-like 2 (MYBL2), mRNA.	282						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	46		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			AGGAAGGCTCCCCACCAGAAA	0.587000														17			6		0	0	0.001168	0	0
MUCL1	118430	broad.mit.edu	37	12	55250568	55250568	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:55250568G>A	uc001sgk.3	+	2	183	c.115G>A	c.(115-117)Gat>Aat	p.D39N		NM_058173	NP_477521	Q96DR8	MUCL1_HUMAN	Homo sapiens mucin-like 1 (MUCL1), mRNA.	39	Thr-rich.					extracellular region|membrane				breast(1)|kidney(1)|lung(1)	3						tcctgctgatgatgaagcccc	0.502000														10			8		0	0	0.003080	0	0
GPX6	257202	broad.mit.edu	37	6	28472176	28472176	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr6:28472176G>A	uc021yrx.1	-	4	609	c.559C>T	c.(559-561)Ctg>Ttg	p.L187L	GPX6_uc010jrg.1_Non-coding_Transcript	NM_182701	NP_874360	P59796	GPX6_HUMAN	Homo sapiens glutathione peroxidase 6 (olfactory) (GPX6), mRNA.	187					response to oxidative stress	extracellular region	glutathione peroxidase activity			NS(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19					Glutathione(DB00143)	GGCCCCACCAGAAATTTCTCA	0.522000														77			31		0	0	0.012213	0	0
EP400	57634	broad.mit.edu	37	12	132491260	132491260	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:132491260C>T	uc001ujn.3	+	14	3294	c.3142C>T	c.(3142-3144)Cca>Tca	p.P1048S	EP400_uc021rgq.1_Missense_Mutation_p.P1047S|EP400_uc001ujm.3_Missense_Mutation_p.P1048S	NM_015409	NP_056224	Q96L91	EP400_HUMAN	Homo sapiens E1A binding protein p400 (EP400), mRNA.	1084	Interactions with RUVBL1 and RUVBL2.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		GTTTAATGCTCCATCTTTGTT	0.398000														25			16		0	0	0.004990	0	0
EPPK1	83481	broad.mit.edu	37	8	144942083	144942083	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr8:144942083C>T	uc003zaa.1	-	0	5352	c.5339G>A	c.(5338-5340)aGa>aAa	p.R1780K		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	1780						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)			TTTTGCAGTTCTGGATTGCAA	0.532000														27			17		0	0	0.004007	0	0
KCNT2	343450	broad.mit.edu	37	1	196309516	196309516	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:196309516G>A	uc001gtd.1	-	15	1798	c.1738C>T	c.(1738-1740)Cat>Tat	p.H580Y	KCNT2_uc009wyt.1_Non-coding_Transcript|KCNT2_uc001gte.1_Missense_Mutation_p.H530Y|KCNT2_uc001gtf.1_Missense_Mutation_p.H580Y|KCNT2_uc001gtg.1_Non-coding_Transcript|KCNT2_uc009wyu.3_Missense_Mutation_p.H580Y|KCNT2_uc001gth.1_Missense_Mutation_p.H101Y	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN	Homo sapiens potassium channel, subfamily T, member 2 (KCNT2), mRNA.	580						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						GAAGGTCCATGATAAAACGAC	0.294000														10			131		0	0	0.014410	0	0
OR1D2	4991	broad.mit.edu	37	17	2996105	2996105	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr17:2996105G>A	uc010vrb.2	-	0	186	c.186C>T	c.(184-186)ttC>ttT	p.F62F		NM_002548	NP_002539	P34982	OR1D2_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily D, member 2 (OR1D2), mRNA.	62					cellular component movement|chemotaxis|protein import into nucleus, translocation|sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(2)|lung(10)|ovary(1)	15						GGTTGGCCAGGAAGAAGTACA	0.537000														90			53		0	0	0.014410	0	0
HAPLN1	1404	broad.mit.edu	37	5	82940383	82940383	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:82940383C>T	uc003kim.3	-	2	645	c.574G>A	c.(574-576)Gac>Aac	p.D192N	HAPLN1_uc003kin.3_Missense_Mutation_p.D192N	NM_001884	NP_001875	P10915	HPLN1_HUMAN	Homo sapiens hyaluronan and proteoglycan link protein 1 (HAPLN1), mRNA.	192	Link 1.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1)	34		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)		TACAGCTGGTCGAAGGAGGCG	0.592000														16			15		0	0	0.003163	0	0
FAM169A	26049	broad.mit.edu	37	5	74077563	74077563	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:74077563G>A	uc003kdm.3	-	12	1778	c.1735C>T	c.(1735-1737)Ccc>Tcc	p.P579S	FAM169A_uc010izm.3_Missense_Mutation_p.P519S|FAM169A_uc003kdl.3_Missense_Mutation_p.P397S	NM_015566	NP_056381	Q9Y6X4	F169A_HUMAN	Homo sapiens family with sequence similarity 169, member A (FAM169A), mRNA.	579										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	27						GTTTCCTGGGGCTCAGATACC	0.458000														16			17		0	0	0.004007	0	0
CACNA1E	777	broad.mit.edu	37	1	181702848	181702848	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:181702848C>T	uc009wxt.3	+	20	3419	c.3224C>T	c.(3223-3225)cCc>cTc	p.P1075L	CACNA1E_uc001gow.3_Missense_Mutation_p.P1075L|CACNA1E_uc009wxs.3_Missense_Mutation_p.P1056L|CACNA1E_uc001gox.1_Missense_Mutation_p.P301L	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	1075					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GTCGCCATCCCCGACGTGGAC	0.652000														44			11		0	0	0.001855	0	0
FAM113B	91523	broad.mit.edu	37	12	47629524	47629524	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:47629524C>T	uc001rpq.3	+	1	1203	c.678C>T	c.(676-678)caC>caT	p.H226H	FAM113B_uc001rpn.3_Silent_p.H226H|FAM113B_uc021qxi.1_Silent_p.H226H	NM_138371	NP_612380	Q96HM7	F113B_HUMAN	Homo sapiens family with sequence similarity 113, member B (FAM113B), mRNA.	226							hydrolase activity			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(10)	35	Renal(347;0.138)|Lung SC(27;0.192)					AGAACCTGCACTGGGACGGGG	0.632000														7			6		0	0	0.001168	0	0
COL2A1	1280	broad.mit.edu	37	12	48374376	48374376	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:48374376G>A	uc001rqu.3	-	38	2767	c.2586C>T	c.(2584-2586)gcC>gcT	p.A862A	COL2A1_uc009zkw.3_Non-coding_Transcript|COL2A1_uc001rqv.3_Silent_p.A793A	NM_001844	NP_001835	P02458	CO2A1_HUMAN	Homo sapiens collagen, type II, alpha 1 (COL2A1), transcript variant 1, mRNA.	862	Triple-helical region.				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	GAGGACCAGGGGCACCAGCAT	0.622000														8			3		0	0	0.000602	0	0
REG1A	5967	broad.mit.edu	37	2	79348011	79348011	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:79348011C>T	uc010ysd.2	+	0	91	c.24C>T	c.(22-24)ttC>ttT	p.F8F	REG1A_uc010ffx.1_Silent_p.F8F|REG1A_uc002snz.3_Silent_p.F8F	NM_002909	NP_002900	P05451	REG1A_HUMAN	Homo sapiens regenerating islet-derived 1 alpha (REG1A), mRNA.	8					positive regulation of cell proliferation	extracellular region	growth factor activity|sugar binding	p.Y7*(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(26)|prostate(1)|upper_aerodigestive_tract(1)	39						GCTCATACTTCATGCTGATCT	0.463000														32			39		0	0	0.011902	0	0
SATB2	23314	broad.mit.edu	37	2	200213545	200213545	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:200213545G>A	uc002uuy.2	-	6	1869	c.1052C>T	c.(1051-1053)cCa>cTa	p.P351L	SATB2_uc010fsq.2_Missense_Mutation_p.P233L|SATB2_uc002uva.2_Missense_Mutation_p.P351L|SATB2_uc002uuz.2_Missense_Mutation_p.P351L|SATB2_uc002uvb.1_Missense_Mutation_p.P94L	NM_001172509	NP_056080	Q9UPW6	SATB2_HUMAN	Homo sapiens SATB homeobox 2 (SATB2), transcript variant 1, mRNA.	351						cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						GGTTGGCTCTGGCTTAACTGC	0.537000														66			42		0	0	0.011902	0	0
SORL1	6653	broad.mit.edu	37	11	121384872	121384872	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:121384872C>T	uc001pxx.3	+	7	1182	c.1053C>T	c.(1051-1053)atC>atT	p.I351I		NM_003105	NP_003096	Q92673	SORL_HUMAN	Homo sapiens sortilin-related receptor, L(DLR class) A repeats containing (SORL1), mRNA.	351					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)		AATATTACATCGCAGATGCCT	0.438000														3			25		0	0	0.008361	0	0
ALPI	248	broad.mit.edu	37	2	233322730	233322730	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:233322730G>A	uc002vst.4	+	7	956	c.879G>A	c.(877-879)acG>acA	p.T293T	ALPI_uc002vsu.4_Silent_p.T204T	NM_001631	NP_001622	P09923	PPBI_HUMAN	Homo sapiens alkaline phosphatase, intestinal (ALPI), mRNA.	293					phosphorylation	anchored to membrane|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(2)|upper_aerodigestive_tract(1)	24		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746)		CCGGAGACACGAAATATGAGA	0.622000														28			22		0	0	0.003330	0	0
SOX17	64321	broad.mit.edu	37	8	55370970	55370970	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr8:55370970C>T	uc003xsb.4	+	0	476	c.272C>T	c.(271-273)cCa>cTa	p.P91L		NM_022454	NP_071899	Q9H6I2	SOX17_HUMAN	Homo sapiens SRY (sex determining region Y)-box 17 (SOX17), mRNA.	91					Wnt receptor signaling pathway|angiogenesis|cardiac cell fate determination|endocardial cell differentiation|endocardium formation|endoderm formation|heart formation|heart looping|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|outflow tract morphogenesis|positive regulation of transcription, DNA-dependent|protein destabilization|protein stabilization|regulation of embryonic development|renal system development|vasculogenesis	transcription factor complex	beta-catenin binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription factor binding|transcription regulatory region DNA binding			endometrium(6)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)	18		Lung NSC(129;0.109)|all_epithelial(80;0.176)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;1.9e-07)|Epithelial(17;1.7e-05)|all cancers(17;0.000159)			CAGCAGAATCCAGACCTGCAC	0.662000														19			17		0	0	0.008871	0	0
ALOX12B	242	broad.mit.edu	37	17	7984452	7984452	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr17:7984452C>T	uc002gjy.1	-	2	667	c.406G>A	c.(406-408)Gag>Aag	p.E136K	BC046191_uc010cnq.2_Non-coding_Transcript	NM_001139	NP_001130	O75342	LX12B_HUMAN	Homo sapiens arachidonate 12-lipoxygenase, 12R type (ALOX12B), mRNA.	136	Lipoxygenase.				epidermis development|leukotriene biosynthetic process		arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity	p.E136delE(2)		endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	16						GCTCTGATCTCCTCTTTTCTG	0.632000										Multiple Myeloma(8;0.094)				23			9		0	0	0.013537	0	0
CSNK1A1P1	161635	broad.mit.edu	37	15	37110049	37110049	+	RNA	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr15:37110049C>T	uc001zjg.4	-	0		c.659G>A								Homo sapiens casein kinase 1, alpha 1 pseudogene 1 (CSNK1A1P1), non-coding RNA.																		AATTGGTCTTCGAGGCTAGGT	0.408000														13			9		0	0	0.004482	0	0
GLRB	2743	broad.mit.edu	37	4	158060056	158060056	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr4:158060056G>A	uc003ipj.2	+	6	908	c.706G>A	c.(706-708)Gaa>Aaa	p.E236K	GLRB_uc021xtp.1_Missense_Mutation_p.E236K|GLRB_uc021xtq.1_Missense_Mutation_p.E236K	NM_000824	NP_001159532	P48167	GLRB_HUMAN	Homo sapiens glycine receptor, beta (GLRB), transcript variant 1, mRNA.	236					nervous system development|neuropeptide signaling pathway|startle response	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|protein binding|receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1)	27	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	Glycine(DB00145)	TATCAAAAAGGAAGATATTGA	0.299000														55			39		0	0	0.005524	0	0
EVPL	2125	broad.mit.edu	37	17	74004689	74004689	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr17:74004689C>T	uc010wss.1	-	21	4891	c.4663G>A	c.(4663-4665)Gaa>Aaa	p.E1555K	EVPL_uc002jqi.2_Missense_Mutation_p.E1533K|EVPL_uc010wst.1_Missense_Mutation_p.E1003K	NM_001988	NP_001979	Q92817	EVPL_HUMAN	Homo sapiens envoplakin (EVPL), mRNA.	1533	Central fibrous rod domain.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						CGCTCATCTTCCAGGACGCGG	0.642000														18			23		0	0	0.014323	0	0
CNTNAP2	26047	broad.mit.edu	37	7	146741041	146741041	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:146741041G>A	uc003weu.2	+	3	961	c.445G>A	c.(445-447)Gaa>Aaa	p.E149K		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	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	p.H148H(1)		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)				103			35		0	0	0.003755	0	0
GFOD1	54438	broad.mit.edu	37	6	13365137	13365137	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr6:13365137G>A	uc003nat.2	-	1	1758	c.1011C>T	c.(1009-1011)ttC>ttT	p.F337F	GFOD1_uc021ylt.1_Silent_p.F234F|GFOD1_uc003nas.2_Silent_p.F234F	NM_018988	NP_001229559	Q9NXC2	GFOD1_HUMAN	Homo sapiens glucose-fructose oxidoreductase domain containing 1 (GFOD1), transcript variant 1, mRNA.	337						extracellular region	binding|oxidoreductase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)	18	Breast(50;0.0296)|Ovarian(93;0.0454)	all_hematologic(90;0.135)	Epithelial(50;0.0348)|BRCA - Breast invasive adenocarcinoma(129;0.1)|all cancers(50;0.108)			GGCAGTCGTCGAAGGTGGCGG	0.657000														39			19		0	0	0.014323	0	0
GREM2	64388	broad.mit.edu	37	1	240656347	240656347	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:240656347G>A	uc021plf.1	-	0	429	c.429C>T	c.(427-429)ccC>ccT	p.P143P	GREM2_uc001hys.3_Silent_p.P143P	NM_022469	NP_071914	Q9H772	GREM2_HUMAN	Homo sapiens gremlin 2 (GREM2), mRNA.	143	CTCK.				BMP signaling pathway	extracellular space	cytokine activity	p.P142L(1)|p.P142T(1)		endometrium(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	10		all_cancers(173;0.0196)	OV - Ovarian serous cystadenocarcinoma(106;0.0123)			TGAGTCGGAAGGGTGGGTCCA	0.637000														1			107		0	0	0.014410	0	0
NGF	4803	broad.mit.edu	37	1	115829023	115829023	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:115829023C>T	uc021osd.1	-	0	394	c.394G>A	c.(394-396)Gaa>Aaa	p.E132K	NGF_uc001efu.1_Missense_Mutation_p.E132K	NM_002506	NP_002497	P01138	NGF_HUMAN	Homo sapiens nerve growth factor (beta polypeptide) (NGF), mRNA.	132					Ras protein signal transduction|activation of MAPKK activity|activation of phospholipase C activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of cell cycle|nerve growth factor processing|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	Golgi lumen|endosome	growth factor activity|nerve growth factor receptor binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13	Lung SC(450;0.211)	all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)	Clenbuterol(DB01407)	ACCGAGAATTCGCCCCTGTGG	0.567000														1			44		0	0	0.009718	0	0
FREM1	158326	broad.mit.edu	37	9	14797617	14797617	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr9:14797617C>T	uc003zlm.3	-	21	4534	c.3718G>A	c.(3718-3720)Gat>Aat	p.D1240N	FREM1_uc010mic.3_Non-coding_Transcript	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	Homo sapiens FRAS1 related extracellular matrix 1 (FREM1), transcript variant 1, mRNA.	1240					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		TCTGAGTCATCATGCATGTAC	0.353000														93			60		0	0	0.014410	0	0
VSX2	338917	broad.mit.edu	37	14	74707911	74707911	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr14:74707911C>T	uc001xpq.3	+	1	487	c.397C>T	c.(397-399)Cga>Tga	p.R133*		NM_182894	NP_878314	P58304	VSX2_HUMAN	Homo sapiens visual system homeobox 2 (VSX2), mRNA.	133	Ser/Thr-rich.				multicellular organismal development|response to stimulus|visual perception	nucleolus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7				BRCA - Breast invasive adenocarcinoma(234;0.00154)		CTCCAGCGATCGAAAAATGTC	0.597000														32			23		0	0	0.003954	0	0
DUOXA2	405753	broad.mit.edu	37	15	45408347	45408347	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr15:45408347C>T	uc001zuo.3	+	2	512	c.231C>T	c.(229-231)ttC>ttT	p.F77F	DUOX2_uc001zun.3_5'Flank|DUOX2_uc010bea.3_5'Flank|DUOXA2_uc010beb.3_Non-coding_Transcript	NM_207581	NP_997464	Q1HG44	DOXA2_HUMAN	Homo sapiens dual oxidase maturation factor 2 (DUOXA2), mRNA.	77					protein transport	endoplasmic reticulum membrane|integral to membrane							all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;2.88e-18)|GBM - Glioblastoma multiforme(94;3.95e-07)|COAD - Colon adenocarcinoma(120;0.0652)|Colorectal(133;0.0659)		CAGAATGGTTCGTGGGTACAG	0.552000														65			62		0	0	0.014410	0	0
RNF114	55905	broad.mit.edu	37	20	48562680	48562680	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr20:48562680C>T	uc002xux.3	+	3	442	c.406C>T	c.(406-408)Cca>Tca	p.P136S	RNF114_uc002xuy.3_Non-coding_Transcript	NM_018683	NP_061153	Q9Y508	RN114_HUMAN	Homo sapiens ring finger protein 114 (RNF114), mRNA.	136					cell differentiation|multicellular organismal development|spermatogenesis	intracellular	zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(1)|ovary(1)	5						CAGGAATGTTCCAAACCGTTA	0.408000														18			19		0	0	0.014323	0	0
OR1C1	26188	broad.mit.edu	37	1	247921673	247921673	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:247921673G>A	uc010pza.2	-	0	36	c.36C>T	c.(34-36)ttC>ttT	p.F12F		NM_012353	NP_036485	Q15619	OR1C1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily C, member 1 (OR1C1), mRNA.	12					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			CCAGAAGGACGAATTCCCTGA	0.408000														39			18		0	0	0.007413	0	0
ABCC12	94160	broad.mit.edu	37	16	48167670	48167670	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr16:48167670G>A	uc002efc.1	-	6	1402	c.1056C>T	c.(1054-1056)atC>atT	p.I352I	ABCC12_uc002eey.1_Non-coding_Transcript|ABCC12_uc002eez.1_Non-coding_Transcript|ABCC12_uc002efa.1_Non-coding_Transcript|ABCC12_uc002efb.1_Non-coding_Transcript|ABCC12_uc002efd.1_Non-coding_Transcript|ABCC12_uc002efe.1_Silent_p.I352I|ABCC12_uc010vgj.1_Non-coding_Transcript	NM_033226	NP_150229	Q96J65	MRP9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 12 (ABCC12), mRNA.	352	ABC transmembrane type-1 1.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				TGGTGGACACGATGGGGGCCA	0.502000														35			20		0	0	0.007413	0	0
TLR2	7097	broad.mit.edu	37	4	154624805	154624805	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr4:154624805C>T	uc003inq.3	+	2	965	c.746C>T	c.(745-747)tCa>tTa	p.S249L	TLR2_uc003inr.3_Missense_Mutation_p.S249L|TLR2_uc003ins.3_Missense_Mutation_p.S249L|TLR2_uc021xtl.1_Missense_Mutation_p.S249L	NM_003264	NP_003255	O60603	TLR2_HUMAN	Homo sapiens toll-like receptor 2 (TLR2), mRNA.	249					I-kappaB phosphorylation|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|cellular response to diacyl bacterial lipopeptide|cellular response to lipoteichoic acid|cellular response to triacyl bacterial lipopeptide|detection of diacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|induction of apoptosis|inflammatory response|innate immune response|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of Wnt receptor signaling pathway|positive regulation of chemokine production|positive regulation of interferon-beta production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	Toll-like receptor 1-Toll-like receptor 2 protein complex|cytoplasm|integral to plasma membrane	Gram-positive bacterial cell surface binding|lipopolysaccharide receptor activity|peptidoglycan binding|protein heterodimerization activity|transmembrane receptor activity|triacyl lipopeptide binding	p.S249L(2)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	29	all_hematologic(180;0.093)	Renal(120;0.117)				GAAACAAATTCATTGATTAAA	0.313000														25			23		0	0	0.014323	0	0
OR10A7	121364	broad.mit.edu	37	12	55615027	55615027	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:55615027C>T	uc010spf.2	+	0	219	c.219C>T	c.(217-219)ttC>ttT	p.F73F		NM_001005280	NP_001005280	Q8NGE5	O10A7_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily A, member 7 (OR10A7), mRNA.	73					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3)	24						AAGTATGTTTCACCTTGGTTA	0.408000														81			70		0	0	0.014410	0	0
FGD2	221472	broad.mit.edu	37	6	36993601	36993601	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr6:36993601G>A	uc010jwp.1	+	13	1663	c.1492G>A	c.(1492-1494)Gaa>Aaa	p.E498K	FGD2_uc003ong.2_Missense_Mutation_p.E220K|FGD2_uc011dtv.1_Missense_Mutation_p.E126K|FGD2_uc003onj.1_Missense_Mutation_p.E75K	NM_173558	NP_775829	Q7Z6J4	FGD2_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 2 (FGD2), mRNA.	498					actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	Golgi apparatus|cytoskeleton|cytosol|early endosome membrane|lamellipodium|nucleus|ruffle membrane	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding	p.E498K(2)		central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	25						CTACCGGGCCGAACTGAAATA	0.622000														59			17		0	0	0.007413	0	0
PTPRT	11122	broad.mit.edu	37	20	40790031	40790031	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr20:40790031C>T	uc002xkg.3	-	16	2827	c.2643G>A	c.(2641-2643)atG>atA	p.M881I	PTPRT_uc010ggj.3_Missense_Mutation_p.M900I|PTPRT_uc010ggi.3_Missense_Mutation_p.M84I	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	881					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)				GGCCTCTCTTCATCTGCGTGA	0.562000														29			22		0	0	0.003330	0	0
PANX1	24145	broad.mit.edu	37	11	93912790	93912790	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:93912790C>T	uc001per.3	+	3	953	c.568C>T	c.(568-570)Cac>Tac	p.H190Y	PANX1_uc001peq.3_Missense_Mutation_p.H190Y	NM_015368	NP_056183	Q96RD7	PANX1_HUMAN	Homo sapiens pannexin 1 (PANX1), mRNA.	190					positive regulation of interleukin-1 beta secretion|protein hexamerization|synaptic transmission	bleb|endoplasmic reticulum membrane|gap junction|integral to membrane	calcium channel activity|gap junction hemi-channel activity|leak channel activity|receptor binding			endometrium(2)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				ATCTGAAAGCCACTTCAAGTA	0.353000														1			10		0	0	0.008291	0	0
CCDC150	284992	broad.mit.edu	37	2	197583330	197583330	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:197583330C>T	uc002utp.1	+	17	2105	c.1970C>T	c.(1969-1971)gCt>gTt	p.A657V	CCDC150_uc010zgs.1_Missense_Mutation_p.A304V|CCDC150_uc010zgt.1_Missense_Mutation_p.A74V|CCDC150_uc002utq.1_5'Flank|CCDC150_uc002utr.1_5'Flank	NM_001080539	NP_001074008	Q8NCX0	CC150_HUMAN	Homo sapiens coiled-coil domain containing 150 (CCDC150), mRNA.	657										breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						GACCTCGAGGCTGTGGAGGAC	0.448000														39			27		0	0	0.008361	0	0
MYCBP2	23077	broad.mit.edu	37	13	77642939	77642939	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr13:77642939G>A	uc021rks.1	-	69	12199	c.11932C>T	c.(11932-11934)Cgc>Tgc	p.R3978C	MYCBP2_uc010aev.3_Missense_Mutation_p.R3344C|MYCBP2_uc001vke.3_Missense_Mutation_p.R557C	NM_015057	NP_055872	O75592	MYCB2_HUMAN	Homo sapiens MYC binding protein 2 (MYCBP2), mRNA.	3940					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	p.R3978C(1)|p.R3940C(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		GCTTCCATGCGAATAGCTTGG	0.388000														42			42		0	0	0.014410	0	0
PRSS58	136541	broad.mit.edu	37	7	141954960	141954960	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:141954960C>T	uc003vxb.3	-	2	671	c.351G>A	c.(349-351)gtG>gtA	p.V117V	PRSS58_uc003vxc.4_Silent_p.V117V	NM_001001317	NP_001001317	Q8IYP2	PRS58_HUMAN	Homo sapiens protease, serine, 58 (PRSS58), mRNA.	117	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity	p.Y116Y(1)		kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	19						TGGCTAATTTCACATAGTCAT	0.403000														84			40		0	0	0.006999	0	0
IL4	3565	broad.mit.edu	37	5	132018273	132018273	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:132018273G>A	uc003kxk.1	+	3	826	c.456G>A	c.(454-456)tcG>tcA	p.S152S	IL4_uc003kxl.1_Silent_p.S136S	NM_000589	NP_000580	P05112	IL4_HUMAN	Homo sapiens interleukin 4 (IL4), transcript variant 1, mRNA.	152					B cell differentiation|T-helper 2 cell cytokine production|cellular defense response|chemotaxis|cholesterol metabolic process|connective tissue growth factor biosynthetic process|negative regulation of apoptosis|negative regulation of osteoclast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of MHC class II biosynthetic process|positive regulation of T cell differentiation|positive regulation of interleukin-13 production|positive regulation of isotype switching to IgE isotypes|positive regulation of isotype switching to IgG isotypes|positive regulation of transcription from RNA polymerase II promoter	extracellular space	cytokine activity|growth factor activity|interleukin-4 receptor binding	p.S152L(1)		NS(1)|large_intestine(3)|lung(3)|prostate(1)	8		all_cancers(142;2.81e-05)|all_lung(232;1.47e-05)|Lung NSC(810;2.31e-05)|all_neural(839;0.0459)|Ovarian(839;0.0481)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	GBM - Glioblastoma multiforme(465;0.00245)		CAAAGTGTTCGAGCTGAATAT	0.299000														18			16		0	0	0.004990	0	0
C2orf53	339779	broad.mit.edu	37	2	27360137	27360137	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:27360137G>A	uc002rjb.2	-	2	1641	c.1061C>T	c.(1060-1062)cCc>cTc	p.P354L	PREB_uc002rix.1_5'Flank|PREB_uc002riy.1_5'Flank|C2orf53_uc021vfb.1_Missense_Mutation_p.P354L	NM_178553	NP_848648	Q53SZ7	CB053_HUMAN	Homo sapiens chromosome 2 open reading frame 53 (C2orf53), mRNA.	354										cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGTCTGGGAGGGTGTGCCTGG	0.632000														44			42		0	0	0.011902	0	0
HEPHL1	341208	broad.mit.edu	37	11	93754684	93754684	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:93754684G>A	uc001pep.2	+	0	307	c.150G>A	c.(148-150)ggG>ggA	p.G50G		NM_001098672	NP_001092142	Q6MZM0	HPHL1_HUMAN	Homo sapiens hephaestin-like 1 (HEPHL1), mRNA.	50	Plastocyanin-like 1.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				TTATTACTGGGAAAAGTTTCA	0.453000														3			48		0	0	0.014410	0	0
OR8S1	341568	broad.mit.edu	37	12	48919622	48919622	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:48919622G>A	uc010slu.2	+	0	208	c.208G>A	c.(208-210)Gat>Aat	p.D70N		NM_001005203	NP_001005203	Q8NH09	OR8S1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily S, member 1 (OR8S1), mRNA.	70					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|skin(4)	22						CTCTTTTGTTGATCTCTGCTT	0.478000														45			64		0	0	0.014410	0	0
MDH1B	130752	broad.mit.edu	37	2	207611011	207611011	+	Splice_Site	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:207611011C>T	uc002vbs.3	-	8	1411	c.1356_splice	c.e8+1	p.Q452_splice	MDH1B_uc010ziw.2_Splice_Site|MDH1B_uc002vbt.3_Splice_Site|MDH1B_uc010fui.3_Splice_Site_p.Q452_splice|MDH1B_uc021vvm.1_Splice_Site_p.Q354_splice	NM_001039845	NP_001034934	Q5I0G3	MDH1B_HUMAN	Homo sapiens malate dehydrogenase 1B, NAD (soluble) (MDH1B), mRNA.	452					carbohydrate metabolic process|malate metabolic process|tricarboxylic acid cycle		binding|malate dehydrogenase activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(14)|ovary(4)|stomach(1)	34				LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)		CTGACATTACCTGAATTAGAT	0.368000														36			22		0	0	0.003330	0	0
DMD	1756	broad.mit.edu	37	X	31165473	31165473	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:31165473C>T	uc004dda.1	-	74	10960	c.10716G>A	c.(10714-10716)ctG>ctA	p.L3572L	DMD_uc004dcq.1_Silent_p.L843L|DMD_uc004dcr.1_Silent_p.L1002L|DMD_uc004dcs.1_Silent_p.L1002L|DMD_uc004dct.1_Silent_p.L1112L|DMD_uc004dcu.1_Silent_p.L1112L|DMD_uc004dcv.1_Silent_p.L1099L|DMD_uc004dcw.2_Silent_p.L2228L|DMD_uc004dcx.2_Silent_p.L2231L|DMD_uc004dcz.2_Silent_p.L3449L|DMD_uc004dcy.1_Silent_p.L3568L|DMD_uc004ddb.1_Silent_p.L3564L|DMD_uc004dcp.1_Silent_p.L491L|DMD_uc011mkb.1_Silent_p.L394L|DMD_uc004dcm.1_Silent_p.L504L|DMD_uc004dcn.1_Silent_p.L491L|DMD_uc004dco.1_Silent_p.L504L	NM_004006	NP_004001	P11532	DMD_HUMAN	Homo sapiens dystrophin (DMD), transcript variant Dp427m, mRNA.	3572					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TCCTGGCTTCCAGGCGGCCTT	0.562000														31			34		0	0	0.013726	0	0
MEI1	150365	broad.mit.edu	37	22	42166941	42166941	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr22:42166941C>T	uc003baz.1	+	19	2545	c.2520C>T	c.(2518-2520)atC>atT	p.I840I	bK250D10.C22.8_uc003bba.1_Intron|MEI1_uc011apd.1_Non-coding_Transcript|MEI1_uc003bbb.1_Silent_p.I226I|MEI1_uc003bbc.1_Silent_p.I208I|MEI1_uc010gym.1_Silent_p.I208I|MEI1_uc003bbd.1_Silent_p.I83I	NM_152513	NP_689726	Q5TIA1	MEI1_HUMAN	Homo sapiens meiosis inhibitor 1 (MEI1), mRNA.	840							binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						TCAGAAGCATCCCCAGCATCC	0.532000														66			60		0	0	0.014410	0	0
DNAH11	8701	broad.mit.edu	37	7	21628935	21628935	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:21628935G>A	uc003svc.3	+	11	2114	c.2083G>A	c.(2083-2085)Gat>Aat	p.D695N		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	695	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						AAGTAATGTGGATGAAATCTG	0.338000									Kartagener syndrome					96			93		0	0	0.014410	0	0
FUT6	2528	broad.mit.edu	37	19	5832373	5832373	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:5832373C>T	uc002mdf.1	-	3	732	c.206G>A	c.(205-207)tGg>tAg	p.W69*	FUT6_uc021unl.1_Nonsense_Mutation_p.W69*|FUT6_uc002mdg.1_Nonsense_Mutation_p.W69*|FUT6_uc002mdh.1_Nonsense_Mutation_p.W69*|FUT6_uc021unm.1_Nonsense_Mutation_p.W69*	NM_001040701	NP_001035791	P51993	FUT6_HUMAN	Homo sapiens fucosyltransferase 6 (alpha (1,3) fucosyltransferase) (FUT6), transcript variant 2, mRNA.	69					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity|alpha(1,3)-fucosyltransferase activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)	6						GTTAAAAGGCCACGTCCACAG	0.602000														28			15		0	0	0.003163	0	0
TNR	7143	broad.mit.edu	37	1	175365852	175365852	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:175365852C>T	uc001gkp.1	-	2	1149	c.1068G>A	c.(1066-1068)gtG>gtA	p.V356V	TNR_uc009wwu.1_Silent_p.V356V|TNR_uc010pmz.1_Intron	NM_003285	NP_003276	Q92752	TENR_HUMAN	Homo sapiens tenascin R (restrictin, janusin) (TNR), mRNA.	356	Fibronectin type-III 1.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					GGTAAGAGATCACATATTCCG	0.622000														134			28		0	0	0.008361	0	0
SCN3A	6328	broad.mit.edu	37	2	166011151	166011151	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:166011151C>T	uc002ucx.3	-	10	1683	c.1191G>A	c.(1189-1191)ggG>ggA	p.G397G	SCN3A_uc002ucy.3_Silent_p.G397G|SCN3A_uc002ucz.3_Silent_p.G397G|SCN3A_uc002uda.1_Silent_p.G266G|SCN3A_uc002udb.1_Silent_p.G266G	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	Homo sapiens sodium channel, voltage-gated, type III, alpha subunit (SCN3A), transcript variant 1, mRNA.	397						voltage-gated sodium channel complex	voltage-gated sodium channel activity			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)	TGTATGTTTTCCCAGCAGCAC	0.398000														31			24		0	0	0.006320	0	0
ZNF99	7652	broad.mit.edu	37	19	22941304	22941304	+	Missense_Mutation	SNP	T	G	G			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:22941304T>G	uc021urt.1	-	3	1562	c.1407A>C	c.(1405-1407)agA>agC	p.R469S		NM_001080409	NP_001073878			Homo sapiens zinc finger protein 99 (ZNF99), mRNA.											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TCTCATGTTTTCTAAGGGCTG	0.353000														36			25		0	0	0.003954	0	0
MYH13	8735	broad.mit.edu	37	17	10212982	10212982	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr17:10212982C>T	uc002gmk.1	-	33	4912	c.4822G>A	c.(4822-4824)Gaa>Aaa	p.E1608K		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	Homo sapiens myosin, heavy chain 13, skeletal muscle (MYH13), mRNA.	1608					muscle contraction	muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						CTGCGGATTTCAGCATCCAGC	0.557000														13			8		0	0	0.003080	0	0
MKS1	54903	broad.mit.edu	37	17	56291646	56291646	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr17:56291646G>A	uc002ivr.2	-	5	693	c.618C>T	c.(616-618)atC>atT	p.I206I	MKS1_uc010wnq.2_Silent_p.I3I|MKS1_uc021uam.1_Silent_p.I196I	NM_017777	NP_060247	Q9NXB0	MKS1_HUMAN	Homo sapiens Meckel syndrome, type 1 (MKS1), transcript variant 1, mRNA.	206					cilium assembly	centrosome|cilium|microtubule basal body	protein binding			endometrium(5)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						GGTCTGCCATGATGTGCATTG	0.532000														32			35		0	0	0.004289	0	0
UNC79	57578	broad.mit.edu	37	14	94048633	94048633	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr14:94048633C>T	uc001ybv.1	+	16	2298	c.2215C>T	c.(2215-2217)Cct>Tct	p.P739S	UNC79_uc001ybs.1_Missense_Mutation_p.P739S	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	Homo sapiens unc-79 homolog (C. elegans) (UNC79), mRNA.	916						integral to membrane		p.V738V(1)		breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						GGAGGAGAATCCTGCAAGCAA	0.572000														24			11		0	0	0.010729	0	0
ST18	9705	broad.mit.edu	37	8	53084939	53084939	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr8:53084939C>T	uc003xqz.2	-	4	638	c.482G>A	c.(481-483)aGc>aAc	p.S161N	ST18_uc011ldq.1_5'UTR|ST18_uc011ldr.1_Missense_Mutation_p.S126N|ST18_uc011lds.1_Missense_Mutation_p.S66N|ST18_uc003xra.2_Missense_Mutation_p.S161N|ST18_uc003xrb.2_Missense_Mutation_p.S161N	NM_014682	NP_055497	O60284	ST18_HUMAN	Homo sapiens suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) (ST18), mRNA.	161						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				TGCTTCATCGCTCTCTGCTTT	0.388000														49			40		0	0	0.009718	0	0
OR7A10	390892	broad.mit.edu	37	19	14952516	14952516	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:14952516G>A	uc002mzx.1	-	0	174	c.174C>T	c.(172-174)ccC>ccT	p.P58P		NM_001005190	NP_001005190	O76100	OR7AA_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily A, member 10 (OR7A10), mRNA.	58					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|stomach(1)	19	Ovarian(108;0.203)					AGAAGTACATGGGGGTGTGGA	0.522000														42			19		0	0	0.012319	0	0
GPR61	83873	broad.mit.edu	37	1	110086229	110086229	+	Silent	SNP	T	C	C			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:110086229T>C	uc021orh.1	+	0	585	c.585T>C	c.(583-585)tgT>tgC	p.C195C	GPR61_uc001dxy.2_Silent_p.C195C	NM_031936	NP_114142	Q9BZJ8	GPR61_HUMAN	Homo sapiens G protein-coupled receptor 61 (GPR61), mRNA.	195						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	23		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228)		CCCCAGGCTGTTCACTCCAGT	0.572000														0			63		0	0	0.014410	0	0
OR11A1	26531	broad.mit.edu	37	6	29394864	29394864	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr6:29394864G>A	uc003nmg.3	-	0	646	c.555C>T	c.(553-555)ttC>ttT	p.F185F		NM_013937	NP_039225	Q9GZK7	O11A1_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily A, member 1 (OR11A1), mRNA.	185					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F185F(2)		cervix(1)|large_intestine(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	19						CCAGGCCCACGAAAAGCATAA	0.512000														26			11		0	0	0.008291	0	0
MAS1L	116511	broad.mit.edu	37	6	29455614	29455614	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr6:29455614C>T	uc011dlq.2	-	0	66	c.66G>A	c.(64-66)caG>caA	p.Q22Q		NM_052967	NP_443199	P35410	MAS1L_HUMAN	Homo sapiens MAS1 oncogene-like (MAS1L), mRNA.	22						cytoplasm|integral to membrane|nucleus|plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2)	28						AGAGAGATATCTGTGACTCAG	0.522000														18			45		0	0	0.014410	0	0
ATP9B	374868	broad.mit.edu	37	18	77137262	77137262	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr18:77137262C>T	uc002lmx.3	+	29	3337	c.3323C>T	c.(3322-3324)aCc>aTc	p.T1108I	ATP9B_uc002lmw.1_Missense_Mutation_p.T1097I|ATP9B_uc002lna.3_Missense_Mutation_p.T123I|ATP9B_uc010drb.3_Non-coding_Transcript	NM_198531	NP_940933	O43861	ATP9B_HUMAN	Homo sapiens ATPase, class II, type 9B (ATP9B), mRNA.	1108					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|aminophospholipid transporter activity|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(3)|prostate(1)|skin(2)|stomach(1)	38		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)		OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405)		GCCTTTATCACCACCGTGACC	0.577000														57			41		0	0	0.014410	0	0
TMED10P1	286102	broad.mit.edu	37	8	146220637	146220637	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr8:146220637G>A	uc003zey.3	+	0	387	c.366G>A	c.(364-366)gtG>gtA	p.V122V	ZNF252P_uc003zew.4_Intron|ZNF252P_uc011llo.2_Intron					Homo sapiens transmembrane emp24-like trafficking protein 10 (yeast) pseudogene 1 (TMED10P1), non-coding RNA.																		ACCAACTTGTGATCCTAGACA	0.423000														38			30		0	0	0.013726	0	0
WDR41	55255	broad.mit.edu	37	5	76754909	76754909	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:76754909G>A	uc003kff.1	-	4	676	c.389C>T	c.(388-390)tCa>tTa	p.S130L	WDR41_uc011csy.1_Missense_Mutation_p.S130L|WDR41_uc011csz.1_Missense_Mutation_p.S75L|WDR41_uc011cta.1_Non-coding_Transcript|WDR41_uc011ctb.1_Non-coding_Transcript	NM_018268	NP_060738	Q9HAD4	WDR41_HUMAN	Homo sapiens WD repeat domain 41 (WDR41), mRNA.	130										NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)	14		all_lung(232;0.000961)|Lung NSC(167;0.0011)|Ovarian(174;0.0105)|Prostate(461;0.059)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-50)|Epithelial(54;2.04e-44)|all cancers(79;6.84e-40)		CTGGAAGCATGATATTCTCTG	0.279000														53			54		0	0	0.014410	0	0
GPR112	139378	broad.mit.edu	37	X	135431967	135431967	+	Silent	SNP	A	G	G			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:135431967A>G	uc004ezu.1	+	5	6393	c.6102A>G	c.(6100-6102)acA>acG	p.T2034T	GPR112_uc010nsb.1_Silent_p.T1829T|GPR112_uc010nsc.1_Silent_p.T1801T	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA.	2034					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)					CTTCCTCTACAGTAGAGGTGT	0.453000														121			46		0	0	0.014410	0	0
EIF5A2	56648	broad.mit.edu	37	3	170625451	170625451	+	Missense_Mutation	SNP	C	G	G			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:170625451C>G	uc003fhd.3	-	1	275	c.145G>C	c.(145-147)Gga>Cga	p.G49R		NM_020390	NP_065123	Q9GZV4	IF5A2_HUMAN	Homo sapiens eukaryotic translation initiation factor 5A2 (EIF5A2), mRNA.	49					mRNA transport|peptidyl-lysine modification to hypusine|polyamine homeostasis|positive regulation of cell proliferation|positive regulation of translational elongation|positive regulation of translational termination|post-translational protein modification|protein transport|spermatogenesis|translational frameshifting|transmembrane transport	cytosol|endoplasmic reticulum membrane|nuclear pore	protein binding|ribosome binding|translation elongation factor activity			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	3	all_cancers(22;1.61e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;9.8e-16)|Lung(28;4.28e-15)			CCATGCTTTCCAGTTTTGGAA	0.478000														77			72		0	0	0.014410	0	0
ACO1	48	broad.mit.edu	37	9	32419074	32419074	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr9:32419074C>T	uc003zqw.4	+	6	852	c.697C>T	c.(697-699)Cag>Tag	p.Q233*	ACO1_uc010mjh.1_Nonsense_Mutation_p.Q67*|ACO1_uc003zqx.4_Nonsense_Mutation_p.Q233*|ACO1_uc003zqy.4_Non-coding_Transcript	NM_002197	NP_002188	P21399	ACOC_HUMAN	Homo sapiens aconitase 1, soluble (ACO1), mRNA.	233					citrate metabolic process|response to iron(II) ion|tricarboxylic acid cycle	Golgi apparatus|cytosol|endoplasmic reticulum	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron-responsive element binding|isocitrate hydro-lyase (cis-aconitate-forming) activity|metal ion binding|protein binding			breast(1)|endometrium(7)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	30			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;3.94e-06)		CATGCTGGGTCAGCCAATCAG	0.512000														21			22		0	0	0.012319	0	0
UGGT2	55757	broad.mit.edu	37	13	96553067	96553067	+	Silent	SNP	A	G	G			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr13:96553067A>G	uc001vmt.3	-	21	2798	c.2628T>C	c.(2626-2628)aaT>aaC	p.N876N		NM_020121	NP_064506	Q9NYU1	UGGG2_HUMAN	Homo sapiens UDP-glucose glycoprotein glucosyltransferase 2 (UGGT2), mRNA.	876					post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding	ER-Golgi intermediate compartment|endoplasmic reticulum lumen	UDP-glucose:glycoprotein glucosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						TTACTCTCCCATTGCTGACAA	0.393000														39			26		0	0	0.010818	0	0
GPR98	84059	broad.mit.edu	37	5	90079760	90079760	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:90079760C>T	uc003kju.3	+	66	13635	c.13539C>T	c.(13537-13539)ccC>ccT	p.P4513P	GPR98_uc003kjt.3_Silent_p.P2219P|GPR98_uc003kjw.3_Silent_p.P174P	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	4513					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GTGACTCTCCCTTTGGAGTTA	0.453000														7			7		0	0	0.001984	0	0
PRR4	11272	broad.mit.edu	37	12	10999761	10999761	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:10999761G>A	uc001qyz.4	-	2	345	c.306C>T	c.(304-306)ctC>ctT	p.L102L	PRH1_uc001qzb.4_Non-coding_Transcript|TAS2R14_uc021qve.1_Non-coding_Transcript|PRR4_uc001qza.4_Intron	NM_007244	NP_009175	Q16378	PROL4_HUMAN	Homo sapiens proline rich 4 (lacrimal) (PRR4), transcript variant 2, mRNA.	102					visual perception	extracellular space				endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	9						GGGGTAGAGAGAGTTGACGGT	0.552000														62			51		0	0	0.014410	0	0
SYTL1	84958	broad.mit.edu	37	1	27680248	27680248	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:27680248G>A	uc001bnw.2	+	14	1791	c.1594G>A	c.(1594-1596)Gag>Aag	p.E532K	SYTL1_uc001bnv.2_Missense_Mutation_p.E520K|SYTL1_uc009vsv.2_Missense_Mutation_p.E532K	NM_001193308	NP_001180237	Q8IYJ3	SYTL1_HUMAN	Homo sapiens synaptotagmin-like 1 (SYTL1), transcript variant 1, mRNA.	532					exocytosis|intracellular protein transport	extrinsic to plasma membrane|melanosome|soluble fraction	Rab GTPase binding|neurexin binding	p.E520K(1)		NS(1)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	12		Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.0115)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0908)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.5e-28)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.0013)|KIRC - Kidney renal clear cell carcinoma(1967;0.00158)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		TTCCACACCTGAGGAGAAGCA	0.637000														1			28		0	0	0.005443	0	0
C8orf76	84933	broad.mit.edu	37	8	124243746	124243746	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr8:124243746G>A	uc003yqc.2	-	3	661	c.609C>T	c.(607-609)tcC>tcT	p.S203S	C8orf76_uc003yqd.3_Silent_p.S171S	NM_032847	NP_116236	Q96K31	CH076_HUMAN	Homo sapiens chromosome 8 open reading frame 76 (C8orf76), mRNA.	203							binding			NS(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(4)	17	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			GTGGAAAGAAGGATTTGATAG	0.448000														59			45		0	0	0.010771	0	0
GRM6	2916	broad.mit.edu	37	5	178410150	178410150	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:178410150C>T	uc003mjr.3	-	8	2376	c.2197G>A	c.(2197-2199)Gtg>Atg	p.V733M	GRM6_uc003mjq.3_Missense_Mutation_p.V136M	NM_000843	NP_000834	O15303	GRM6_HUMAN	Homo sapiens glutamate receptor, metabotropic 6 (GRM6), mRNA.	733					detection of visible light|visual perception	integral to plasma membrane				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		TCGGGGTCCACCGTCCGCTGT	0.627000														11			25		0	0	0.006320	0	0
CMKLR1	1240	broad.mit.edu	37	12	108685969	108685969	+	Missense_Mutation	SNP	C	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:108685969C>A	uc009zuw.3	-	2	962	c.771G>T	c.(769-771)aaG>aaT	p.K257N	CMKLR1_uc001tmw.3_Missense_Mutation_p.K257N|CMKLR1_uc001tmv.3_Missense_Mutation_p.K255N|CMKLR1_uc009zuv.3_Missense_Mutation_p.K257N|CMKLR1_uc021rdj.1_Missense_Mutation_p.K255N	NM_001142345	NP_004063	Q99788	CML1_HUMAN	Homo sapiens chemokine-like receptor 1 (CMKLR1), transcript variant 4, mRNA.	257					chemotaxis|immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of interleukin-12 production|positive regulation of macrophage chemotaxis|regulation of calcium-mediated signaling|skeletal system development	integral to plasma membrane	chemokine receptor activity			endometrium(5)|large_intestine(3)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	37						TCTTGAAGGGCTTCTTGGTCT	0.547000														33			16		0.00498961	0.00671325	0.004990	1	0
C6orf165	154313	broad.mit.edu	37	6	88126407	88126407	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr6:88126407C>T	uc003plv.3	+	5	616	c.493C>T	c.(493-495)Cct>Tct	p.P165S	C6orf165_uc003plu.2_Missense_Mutation_p.P165S|C6orf165_uc003plw.3_5'UTR|C6orf165_uc010kbv.2_Non-coding_Transcript	NM_001031743	NP_001026913	Q8IYR0	CF165_HUMAN	Homo sapiens chromosome 6 open reading frame 165 (C6orf165), mRNA.	165										NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0419)		GAGTGTTTTTCCTCAGGCAGA	0.328000														3			20		0	0	0.003330	0	0
SLC9C2	284525	broad.mit.edu	37	1	173490494	173490494	+	Missense_Mutation	SNP	A	C	C			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:173490494A>C	uc001giz.2	-	21	3108	c.2685T>G	c.(2683-2685)tgT>tgG	p.C895W	SLC9C2_uc009wwe.2_Missense_Mutation_p.C453W	NM_178527	NP_848622	Q5TAH2	S9A11_HUMAN	Homo sapiens solute carrier family 9, member 11 (SLC9A11), mRNA.	895					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity										CACCTCCTTTACAAATGGTAT	0.323000														4			84		0	0	0.014410	0	0
TEX14	56155	broad.mit.edu	37	17	56676453	56676453	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr17:56676453G>A	uc010dcz.2	-	13	2389	c.2271C>T	c.(2269-2271)atC>atT	p.I757I	TEX14_uc002iwr.2_Silent_p.I751I|TEX14_uc002iws.2_Silent_p.I751I|TEX14_uc010dda.2_Silent_p.I531I	NM_001201457	NP_001188386	Q8IWB6	TEX14_HUMAN	Homo sapiens testis expressed 14 (TEX14), transcript variant 3, mRNA.	757						cytoplasm	ATP binding|protein kinase activity	p.D756H(1)		breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					ATATCTGCTCGATATTCCTCA	0.418000														81			58		0	0	0.014410	0	0
DHX40	79665	broad.mit.edu	37	17	57682819	57682819	+	Nonsense_Mutation	SNP	G	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr17:57682819G>T	uc002ixn.2	+	16	2131	c.1984G>T	c.(1984-1986)Gaa>Taa	p.E662*	DHX40_uc010woe.2_Nonsense_Mutation_p.E585*|DHX40_uc010wof.2_Nonsense_Mutation_p.E177*	NM_024612	NP_078888	Q8IX18	DHX40_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 40 (DHX40), transcript variant 1, mRNA.	662							ATP binding|ATP-dependent helicase activity|nucleic acid binding			endometrium(7)|large_intestine(6)|lung(6)|prostate(1)	20	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					TCATGAACAGGAAACCAAACT	0.363000														14			17		9.7654e-05	0.00013157	0.007413	1	0
SLX4	84464	broad.mit.edu	37	16	3652243	3652243	+	Missense_Mutation	SNP	A	G	G			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr16:3652243A>G	uc002cvp.2	-	3	1453	c.826T>C	c.(826-828)Ttt>Ctt	p.F276L	SLX4_uc002cvq.1_Missense_Mutation_p.F276L	NM_032444	NP_115820	Q8IY92	SLX4_HUMAN	Homo sapiens SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae) (SLX4), mRNA.	276	Interaction with C20orf94, ERCC4 and MSH2.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						ACCCGTGCAAACTCCTGCTGC	0.547000								Direct reversal of damage						57			43		0	0	0.013114	0	0
TTN	7273	broad.mit.edu	37	2	179648923	179648923	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:179648923G>A	uc021vsy.1	-	15	2874	c.2649C>T	c.(2647-2649)ttC>ttT	p.F883F	TTN_uc021vsz.1_Silent_p.F837F|TTN_uc021vta.1_Silent_p.F837F|TTN_uc021vtb.1_Silent_p.F837F|TTN_uc002unb.2_Silent_p.F883F	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	883							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)			GTGTGTCAGCGAAGGGGAACT	0.537000														45			30		0	0	0.013726	0	0
ANXA4	307	broad.mit.edu	37	2	70037755	70037755	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:70037755C>T	uc010yqo.2	+	6	689	c.175C>T	c.(175-177)Cgc>Tgc	p.R59C	ANXA4_uc010yqn.1_Non-coding_Transcript|ANXA4_uc002sfr.4_Missense_Mutation_p.R143C|ANXA4_uc002sfs.4_Missense_Mutation_p.R121C	NM_001153	NP_001144	P09525	ANXA4_HUMAN	Homo sapiens annexin A4 (ANXA4), mRNA.	141					anti-apoptosis|signal transduction	cytoplasm	calcium ion binding|calcium-dependent phospholipid binding|phospholipase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)	11						AGATGACATTCGCTCTGACAC	0.488000														39			27		0	0	0.012213	0	0
CLCA4	22802	broad.mit.edu	37	1	87043668	87043668	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:87043668C>T	uc009wcs.3	+	11	2079	c.2035C>T	c.(2035-2037)Cgg>Tgg	p.R679W	CLCA4_uc009wct.3_Missense_Mutation_p.R442W|CLCA4_uc009wcu.3_Missense_Mutation_p.R499W	NM_012128	NP_036260	Q14CN2	CLCA4_HUMAN	Homo sapiens chloride channel accessory 4 (CLCA4), transcript variant 1, mRNA.	679						apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity	p.R679W(2)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		CTTAAAAGTTCGGGCTCATGG	0.438000														3			31		0	0	0.013726	0	0
FAM131B	9715	broad.mit.edu	37	7	143056116	143056116	+	Splice_Site	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:143056116C>T	uc010lpa.3	-	5	413	c.269_splice	c.e5-1	p.G90_splice	FAM131B_uc010loz.3_Splice_Site_p.G30_splice|FAM131B_uc003wct.3_Splice_Site_p.G62_splice|FAM131B_uc003wcu.4_Splice_Site_p.G62_splice|ZYX_uc011ktd.2_5'Flank	NM_001031690	NP_055505	Q86XD5	F131B_HUMAN	Homo sapiens family with sequence similarity 131, member B (FAM131B), transcript variant a, mRNA.	62										breast(1)|endometrium(4)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24	Melanoma(164;0.205)					TCCGTGAGATCCCTATGGGGC	0.587000														12			6		0	0	0.001984	0	0
TBC1D4	9882	broad.mit.edu	37	13	75863085	75863085	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr13:75863085G>A	uc001vjl.1	-	19	3995	c.3648C>T	c.(3646-3648)ctC>ctT	p.L1216L	TBC1D4_uc010tht.1_Silent_p.L426L|TBC1D4_uc010thu.1_Silent_p.L373L|TBC1D4_uc010aer.2_Silent_p.L1208L|TBC1D4_uc010aes.2_Silent_p.L1153L	NM_014832	NP_055647	O60343	TBCD4_HUMAN	Homo sapiens TBC1 domain family, member 4 (TBC1D4), mRNA.	1216						cytoplasm	Rab GTPase activator activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		ATTTTTCTAGGAGGTCCATGT	0.408000														48			40		0	0	0.009718	0	0
OR51I2	390064	broad.mit.edu	37	11	5475583	5475583	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:5475583C>T	uc010qzf.2	+	0	946	c.865C>T	c.(865-867)Cct>Tct	p.P289S	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron	NM_001004754	NP_001004754	Q9H344	O51I2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily I, member 2 (OR51I2), mRNA.	289					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGTGCTCAACCCTCTCATTTA	0.463000														80			68		0	0	0.014410	0	0
C9orf171	389799	broad.mit.edu	37	9	135374155	135374155	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr9:135374155G>A	uc004cbn.3	+	2	425	c.377G>A	c.(376-378)cGa>cAa	p.R126Q	C9orf171_uc004cbo.3_Missense_Mutation_p.R90Q	NM_207417	NP_997300	Q6ZQR2	CI171_HUMAN	Homo sapiens chromosome 9 open reading frame 171 (C9orf171), mRNA.	126										large_intestine(7)|lung(9)|ovary(4)|prostate(3)	23						CTCTACATCCGAGGGCTTGAC	0.577000														0			10		0	0	0.008291	0	0
SLFN12L	100506736	broad.mit.edu	37	17	33802058	33802058	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr17:33802058C>T	uc002hjn.3	-	4	2452	c.1738G>A	c.(1738-1740)Gac>Aac	p.D580N	SLFN12L_uc021tuy.1_Missense_Mutation_p.D551N	NM_001195790	NP_001182719	Q6IEE8	SN12L_HUMAN	Homo sapiens schlafen family member 12-like (SLFN12L), mRNA.	583						integral to membrane	ATP binding			breast(1)|endometrium(4)|kidney(5)|large_intestine(2)|lung(3)|ovary(1)	16						TTTTCCAAGTCTTTCATTGTT	0.363000														6			13		0	0	0.013537	0	0
PRPF8	10594	broad.mit.edu	37	17	1586852	1586852	+	Missense_Mutation	SNP	G	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr17:1586852G>T	uc002fte.3	-	2	358	c.244C>A	c.(244-246)Cgc>Agc	p.R82S		NM_006445	NP_006436	Q6P2Q9	PRP8_HUMAN	Homo sapiens PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae) (PRPF8), mRNA.	82						U5 snRNP|catalytic step 2 spliceosome|nuclear speck	RNA binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		TTGTCATGGCGGAACTTCCTG	0.478000														81			5		0.00307968	0.00414545	0.003080	1	0
TAF1L	138474	broad.mit.edu	37	9	32635000	32635000	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr9:32635000G>A	uc003zrg.1	-	0	668	c.578C>T	c.(577-579)tCc>tTc	p.S193F	AX747113_uc003zrh.1_Non-coding_Transcript	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like (TAF1L), mRNA.	193					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|TBP-class protein binding|histone acetyltransferase activity|protein serine/threonine kinase activity			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		GGCCAAAAAGGAAGGGGCAAT	0.478000														32			26		0	0	0.005443	0	0
PPIP5K2	23262	broad.mit.edu	37	5	102526558	102526558	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:102526558C>T	uc003kod.4	+	28	3887	c.3368C>T	c.(3367-3369)tCc>tTc	p.S1123F	PPIP5K2_uc011cva.2_Non-coding_Transcript|PPIP5K2_uc003koe.3_Missense_Mutation_p.S1102F|PPIP5K2_uc003kof.3_Missense_Mutation_p.S305F	NM_015216	NP_056031	O43314	VIP2_HUMAN	Homo sapiens diphosphoinositol pentakisphosphate kinase 2 (PPIP5K2), mRNA.	1123					inositol metabolic process	cytosol	ATP binding|acid phosphatase activity|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						GAATTGTATTCCATGGTGCCA	0.328000														34			15		0	0	0.004007	0	0
DLG3	1741	broad.mit.edu	37	X	69669618	69669618	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:69669618G>A	uc004dyi.2	+	3	959	c.612G>A	c.(610-612)aaG>aaA	p.K204K	U4_uc022byp.1_5'Flank|DLG3_uc004dyj.2_5'Flank	NM_021120	NP_066943	Q92796	DLG3_HUMAN	Homo sapiens discs, large homolog 3 (Drosophila) (DLG3), transcript variant 1, mRNA.	204	PDZ 1.				axon guidance|negative regulation of cell proliferation|synaptic transmission	plasma membrane	guanylate kinase activity			endometrium(4)|kidney(1)|large_intestine(10)|lung(5)|pancreas(1)|urinary_tract(1)	22	Renal(35;0.156)					AGGCGCTGAAGGAGGCAGGCC	0.657000														12			12		0	0	0.002450	0	0
SLCO3A1	28232	broad.mit.edu	37	15	92706011	92706011	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr15:92706011C>T	uc002bqx.2	+	9	1980	c.1779C>T	c.(1777-1779)ttC>ttT	p.F593F	SLCO3A1_uc002bqy.2_Silent_p.F593F|SLCO3A1_uc002bqz.1_Silent_p.F535F	NM_013272	NP_037404	Q9UIG8	SO3A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 3A1 (SLCO3A1), transcript variant 1, mRNA.	593					sodium-independent organic anion transport	integral to membrane|plasma membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)			CCCTCATCTTCGGGGCTGGCA	0.567000														30			33		0	0	0.003755	0	0
ADAMTS5	11096	broad.mit.edu	37	21	28296687	28296687	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr21:28296687C>T	uc002ymg.3	-	7	3207	c.2478G>A	c.(2476-2478)acG>acA	p.T826T		NM_007038	NP_008969	Q9UNA0	ATS5_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 5 (ADAMTS5), mRNA.	826	Spacer.				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding	p.T826M(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						GAATTTCCTTCGTGGCAGAGT	0.443000														65			59		0	0	0.014410	0	0
AKR1C4	1109	broad.mit.edu	37	10	5248263	5248263	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr10:5248263G>A	uc001ihw.2	+	4	506	c.473G>A	c.(472-474)gGa>gAa	p.G158E		NM_001818	NP_001809	P17516	AK1C4_HUMAN	Homo sapiens aldo-keto reductase family 1, member C4 (chlordecone reductase; 3-alpha hydroxysteroid dehydrogenase, type I; dihydrodiol dehydrogenase 4) (AKR1C4), mRNA.	158					androgen metabolic process|bile acid biosynthetic process	cytosol	aldo-keto reductase (NADP) activity|androsterone dehydrogenase (B-specific) activity|bile acid transmembrane transporter activity|chlordecone reductase activity|electron carrier activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	18					NADH(DB00157)	AAGGATGCAGGATTGGCCAAG	0.488000														36			38		0	0	0.004878	0	0
PCDH15	65217	broad.mit.edu	37	10	55569229	55569229	+	Silent	SNP	G	A	A	rs12359240		TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr10:55569229G>A	uc021pqw.1	-	35	4985	c.4590C>T	c.(4588-4590)atC>atT	p.I1530I	PCDH15_uc010qhq.2_Intron|PCDH15_uc010qhr.2_Intron|PCDH15_uc021pqv.1_3'UTR|PCDH15_uc010qht.2_Silent_p.I1525I|PCDH15_uc021pqx.1_3'UTR	NM_001142769	NP_001136241	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant I, mRNA.	0					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	p.K1530N(1)|p.K1530_E1531>N*(1)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GTGGTTTTTCGATAGTTACAA	0.368000										HNSCC(58;0.16)				125			92		0	0	0.014410	0	0
GPR64	10149	broad.mit.edu	37	X	19027767	19027767	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:19027767C>T	uc004cyx.3	-	17	1641	c.1399G>A	c.(1399-1401)Gcc>Acc	p.A467T	GPR64_uc004cze.3_Missense_Mutation_p.A437T|GPR64_uc004cza.3_Missense_Mutation_p.A445T|GPR64_uc004czf.3_Missense_Mutation_p.A429T|GPR64_uc004cyy.3_Missense_Mutation_p.A464T|GPR64_uc004czc.3_Missense_Mutation_p.A451T|GPR64_uc004cyz.3_Missense_Mutation_p.A453T|GPR64_uc004czb.3_Missense_Mutation_p.A467T|GPR64_uc004czd.3_Missense_Mutation_p.A443T|GPR64_uc004cyw.3_Missense_Mutation_p.A451T|GPR64_uc010nfj.3_Missense_Mutation_p.A437T	NM_001079858	NP_001073327	Q8IZP9	GPR64_HUMAN	Homo sapiens G protein-coupled receptor 64 (GPR64), transcript variant 1, mRNA.	467					neuropeptide signaling pathway|spermatogenesis	cytoplasm|integral to plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1)	42	Hepatocellular(33;0.183)					GGGTCTTGGGCCACAAAGGTA	0.423000														44			32		0	0	0.004289	0	0
TMEM95	339168	broad.mit.edu	37	17	7259169	7259169	+	Missense_Mutation	SNP	C	T	T	rs139214770		TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr17:7259169C>T	uc002ggg.1	+	2	266	c.239C>T	c.(238-240)gCt>gTt	p.A80V	TMEM95_uc002ggf.1_Missense_Mutation_p.A80V|TMEM95_uc002ggh.1_Missense_Mutation_p.A80V			Q3KNT9	TMM95_HUMAN	Homo sapiens transmembrane protein 95 (TMEM95), mRNA.	80						integral to membrane				large_intestine(1)|lung(2)	3		Prostate(122;0.173)				ATCAAAGAGGCTGTCTCCTCA	0.607000											OREG0024137	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		31			20		0	0	0.012319	0	0
KIAA1324L	222223	broad.mit.edu	37	7	86569381	86569381	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:86569381G>A	uc011kha.2	-	5	977	c.792C>T	c.(790-792)atC>atT	p.I264I	KIAA1324L_uc003uie.3_Silent_p.I97I|KIAA1324L_uc011kgz.2_Silent_p.I150I|KIAA1324L_uc003uif.2_Silent_p.I16I	NM_001142749	NP_001136221	A8MWY0	K132L_HUMAN	Homo sapiens KIAA1324-like (KIAA1324L), transcript variant 1, mRNA.	264						integral to membrane				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					AACCCATAAGGATGCCTGTAG	0.408000														36			71		0	0	0.014410	0	0
ODZ3	55714	broad.mit.edu	37	4	183635383	183635383	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr4:183635383G>A	uc003ivd.1	+	11	2440	c.2365G>A	c.(2365-2367)Gga>Aga	p.G789R	ODZ3_uc003ive.1_Missense_Mutation_p.G195R	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	789					signal transduction	integral to membrane		p.G789V(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4)	129		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		GGACAATGAAGGAGGTAAGAA	0.463000														11			10		0	0	0.006214	0	0
ELN	2006	broad.mit.edu	37	7	73474738	73474738	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:73474738G>A	uc003tzw.3	+	24	1763	c.1672G>A	c.(1672-1674)Gga>Aga	p.G558R	ELN_uc003tzn.3_Missense_Mutation_p.G552R|ELN_uc003tzy.3_Missense_Mutation_p.G528R|ELN_uc003tzz.3_Missense_Mutation_p.G471R|ELN_uc003tzo.3_Missense_Mutation_p.G504R|ELN_uc003tzp.3_Missense_Mutation_p.G463R|ELN_uc003tzq.3_Missense_Mutation_p.G416R|ELN_uc003tzr.3_Intron|ELN_uc003tzs.3_Missense_Mutation_p.G533R|ELN_uc003tzt.3_Missense_Mutation_p.G557R|ELN_uc003tzu.3_Missense_Mutation_p.G538R|ELN_uc003tzv.3_Missense_Mutation_p.G523R|ELN_uc011kfe.2_Non-coding_Transcript|ELN_uc003tzx.3_Missense_Mutation_p.G542R|ELN_uc011kff.2_Missense_Mutation_p.G552R	NM_000501	NP_001075224	P15502	ELN_HUMAN	Homo sapiens elastin (ELN), transcript variant 1, mRNA.	581	Ala-rich.				blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding	p.G558S(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)			Rofecoxib(DB00533)	TGGCATCCCTGGACTTGGAGT	0.632000			T	PAX5	B-ALL		"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""							65			27		0	0	0.006320	0	0
MKL1	57591	broad.mit.edu	37	22	40827451	40827451	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr22:40827451G>A	uc003ayv.1	-	2	304	c.97C>T	c.(97-99)Cgg>Tgg	p.R33W	MKL1_uc010gyf.1_Missense_Mutation_p.R33W|MKL1_uc003ayw.1_Missense_Mutation_p.R33W|MKL1_uc010gye.1_Missense_Mutation_p.R33W	NM_020831	NP_065882	Q969V6	MKL1_HUMAN	Homo sapiens megakaryoblastic leukemia (translocation) 1 (MKL1), mRNA.	33	Mediates interaction with SCAI and ACTB (By similarity).				positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						CTCTCCGGCCGGGAACGAATC	0.473000			T	RBM15	acute megakaryocytic leukemia									109			92		0	0	0.014410	0	0
CCDC63	160762	broad.mit.edu	37	12	111321968	111321968	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:111321968G>A	uc001trv.1	+	7	1183	c.988G>A	c.(988-990)Gag>Aag	p.E330K	CCDC63_uc010sye.1_Missense_Mutation_p.E290K|CCDC63_uc001trw.1_Missense_Mutation_p.E245K	NM_152591	NP_689804	Q8NA47	CCD63_HUMAN	Homo sapiens coiled-coil domain containing 63 (CCDC63), mRNA.	330								p.K329T(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1)	39						TCTGGCCAAGGAGGAGAAGAA	0.532000														31			28		0	0	0.007291	0	0
MAPK8IP1	9479	broad.mit.edu	37	11	45924119	45924119	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:45924119C>T	uc001nbr.3	+	4	1126	c.801C>T	c.(799-801)atC>atT	p.I267I		NM_005456	NP_005447	Q9UQF2	JIP1_HUMAN	Homo sapiens mitogen-activated protein kinase 8 interacting protein 1 (MAPK8IP1), mRNA.	267	JNK-binding domain (JBD).				vesicle-mediated transport	nucleus|perinuclear region of cytoplasm	MAP-kinase scaffold activity|kinesin binding|protein kinase inhibitor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)	24				GBM - Glioblastoma multiforme(35;0.231)		GAGACCGAATCCACTACCAGG	0.687000														12			9		0	0	0.006214	0	0
CPS1	1373	broad.mit.edu	37	2	211456679	211456679	+	Missense_Mutation	SNP	G	A	A	rs149930500		TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:211456679G>A	uc010fur.3	+	10	1172	c.1090G>A	c.(1090-1092)Gat>Aat	p.D364N	CPS1_uc002vee.4_Missense_Mutation_p.D358N|CPS1_uc010fus.3_5'Flank	NM_001122633	NP_001116105	P31327	CPSM_HUMAN	Homo sapiens carbamoyl-phosphate synthase 1, mitochondrial (CPS1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	358	Glutamine amidotransferase type-1.				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)		GAATGTCAACGATCAAACAAA	0.378000														17			15		0	0	0.008871	0	0
MEOX2	4223	broad.mit.edu	37	7	15652161	15652161	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:15652161C>T	uc003stc.3	-	2	1047	c.766G>A	c.(766-768)Gaa>Aaa	p.E256K		NM_005924	NP_005915	P50222	MEOX2_HUMAN	Homo sapiens mesenchyme homeobox 2 (MEOX2), mRNA.	256					blood circulation|multicellular organismal development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.R255R(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24				UCEC - Uterine corpus endometrioid carcinoma (126;0.0822)		AGTTCCTTTTCCCGAGCCGCA	0.507000														96			54		0	0	0.014410	0	0
PZP	5858	broad.mit.edu	37	12	9322148	9322148	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:9322148G>A	uc001qvl.3	-	15	1908	c.1879C>T	c.(1879-1881)Cct>Tct	p.P627S	PZP_uc009zgl.3_Missense_Mutation_p.P496S|PZP_uc010sgo.1_5'Flank|PZP_uc009zgm.1_5'UTR	NM_002864	NP_002855			Homo sapiens pregnancy-zone protein (PZP), mRNA.									p.P627S(2)|p.P496S(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						ACATTGTCAGGAAAATTGGTG	0.418000														30			13		0	0	0.013537	0	0
PXDNL	137902	broad.mit.edu	37	8	52284457	52284457	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr8:52284457G>A	uc003xqu.4	-	18	3978	c.3877C>T	c.(3877-3879)Cga>Tga	p.R1293*	PXDNL_uc003xqt.4_Non-coding_Transcript	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	Homo sapiens peroxidasin homolog (Drosophila)-like (PXDNL), mRNA.	1293					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				TGCCACACTCGCAGGTCCACC	0.473000														17			10		0	0	0.008291	0	0
CCDC6	8030	broad.mit.edu	37	10	61552677	61552677	+	Nonstop_Mutation	SNP	A	G	G			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr10:61552677A>G	uc001jks.4	-	8	1655	c.1423T>C	c.(1423-1425)Taa>Caa	p.*475Q		NM_005436	NP_005427	Q16204	CCDC6_HUMAN	Homo sapiens coiled-coil domain containing 6 (CCDC6), mRNA.	0						cytoplasm|cytoskeleton	SH3 domain binding|structural constituent of cytoskeleton		CCDC6/RET(4)	breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|stomach(1)	18				Kidney(211;0.0597)		CTCATGCATTAAGGCTGGGAG	0.562000			T	RET	NSCLC									73			45		0	0	0.014410	0	0
C6orf195	154386	broad.mit.edu	37	6	2623697	2623697	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr6:2623697C>T	uc003mtw.2	-	2	1345	c.360G>A	c.(358-360)agG>agA	p.R120R	C6orf195_uc021ykp.1_Silent_p.R120R	NM_152554	NP_689767	Q96MT4	CF195_HUMAN	Homo sapiens chromosome 6 open reading frame 195 (C6orf195), mRNA.	120										cervix(1)|endometrium(1)|lung(2)|skin(1)	5	Ovarian(93;0.0412)	all_hematologic(90;0.0895)				TGCTAATCTCCCTCTGACGGA	0.488000														43			17		0	0	0.007413	0	0
LAMP3	27074	broad.mit.edu	37	3	182871954	182871954	+	Missense_Mutation	SNP	T	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:182871954T>A	uc003flh.4	-	1	499	c.275A>T	c.(274-276)aAa>aTa	p.K92I		NM_014398	NP_055213	Q9UQV4	LAMP3_HUMAN	Homo sapiens lysosomal-associated membrane protein 3 (LAMP3), mRNA.	92	Thr-rich.				cell proliferation	integral to membrane|lysosomal membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(2)	28	all_cancers(143;9.14e-14)|Ovarian(172;0.0355)		all cancers(12;2.91e-44)|Epithelial(37;5.52e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;4.16e-21)			TGCAGTGTTTTTTGTAGTCGC	0.483000														48			36		0	0	0.004289	0	0
ANKRD22	118932	broad.mit.edu	37	10	90591670	90591670	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr10:90591670G>A	uc001kfj.4	-	1	503	c.135C>T	c.(133-135)atC>atT	p.I45I		NM_144590	NP_653191	Q5VYY1	ANR22_HUMAN	Homo sapiens ankyrin repeat domain 22 (ANKRD22), mRNA.	45										NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(3)	10		Colorectal(252;0.0163)		Colorectal(12;6.29e-05)|COAD - Colon adenocarcinoma(12;7.69e-05)		TGCAAGCACAGATCAGGGGCG	0.473000														128			113		0	0	0.014410	0	0
EPB41L4B	54566	broad.mit.edu	37	9	112015767	112015767	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr9:112015767C>T	uc004bdz.1	-	11	1528	c.1233G>A	c.(1231-1233)agG>agA	p.R411R	EPB41L4B_uc004bea.3_Silent_p.R411R	NM_019114	NP_061987	Q9H329	E41LB_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1 like 4B (EPB41L4B), transcript variant 2, mRNA.	411						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TACTAGGCTTCCTCTCAAAGG	0.398000														13			60		0	0	0.014410	0	0
ZNF804A	91752	broad.mit.edu	37	2	185801744	185801744	+	Missense_Mutation	SNP	A	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:185801744A>T	uc002uph.3	+	3	2215	c.1621A>T	c.(1621-1623)Aat>Tat	p.N541Y		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	Homo sapiens zinc finger protein 804A (ZNF804A), mRNA.	541						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						TTCTGGAAAAAATGAGAACAC	0.338000														24			21		0	0	0.012319	0	0
ABHD1	84696	broad.mit.edu	37	2	27352206	27352206	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:27352206G>A	uc002rit.3	+	3	641	c.481G>A	c.(481-483)Ggc>Agc	p.G161S	ABHD1_uc002riu.3_Non-coding_Transcript|ABHD1_uc002riv.3_Intron	NM_032604	NP_115993	Q96SE0	ABHD1_HUMAN	Homo sapiens abhydrolase domain containing 1 (ABHD1), mRNA.	161						integral to membrane	carboxylesterase activity			endometrium(1)|kidney(1)|lung(3)	5	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TAACAACCGGGGCTGCCGTGG	0.577000														27			18		0	0	0.010504	0	0
CATSPERB	79820	broad.mit.edu	37	14	92076898	92076898	+	Missense_Mutation	SNP	A	C	C			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr14:92076898A>C	uc001xzs.1	-	20	2664	c.2524T>G	c.(2524-2526)Ttt>Gtt	p.F842V	CATSPERB_uc010aub.1_Missense_Mutation_p.F364V	NM_024764	NP_079040	Q9H7T0	CTSRB_HUMAN	Homo sapiens cation channel, sperm-associated, beta (CATSPERB), mRNA.	842					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				AATGGGATAAATTTGCTAGGA	0.378000														42			25		0	0	0.003954	0	0
DDX51	317781	broad.mit.edu	37	12	132625406	132625406	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:132625406C>T	uc001ujy.4	-	8	1449	c.1410G>A	c.(1408-1410)tcG>tcA	p.S470S		NM_175066	NP_778236	Q8N8A6	DDX51_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 51 (DDX51), mRNA.	470					rRNA processing	nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			endometrium(1)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	10	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)		OV - Ovarian serous cystadenocarcinoma(86;7.59e-08)|Epithelial(86;3.62e-07)|all cancers(50;2.13e-05)		CATACTTCCCCGAATCCCCGT	0.617000														32			26		0	0	0.008361	0	0
NPAS4	266743	broad.mit.edu	37	11	66192549	66192549	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:66192549G>A	uc001ohx.1	+	6	2364	c.2188G>A	c.(2188-2190)Gat>Aat	p.D730N	NPAS4_uc010rpc.1_Missense_Mutation_p.D520N	NM_178864	NP_849195	Q8IUM7	NPAS4_HUMAN	Homo sapiens neuronal PAS domain protein 4 (NPAS4), mRNA.	730					transcription, DNA-dependent		DNA binding|signal transducer activity			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						GGGCTCAGGGGATCCTGAGGC	0.592000														23			21		0	0	0.014323	0	0
TIMP4	7079	broad.mit.edu	37	3	12195141	12195141	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:12195141C>T	uc003bwo.3	-	4	1060	c.549G>A	c.(547-549)ttG>ttA	p.L183L	SYN2_uc003bwl.1_Intron|SYN2_uc003bwm.3_Intron|SYN2_uc003bwn.3_Intron	NM_003256	NP_003247	Q99727	TIMP4_HUMAN	Homo sapiens TIMP metallopeptidase inhibitor 4 (TIMP4), mRNA.	183							metal ion binding|metalloendopeptidase inhibitor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	11						GCTTTCGTTCCAACAGCCAGT	0.537000														201			187		0	0	0.014410	0	0
FGF3	2248	broad.mit.edu	37	11	69625228	69625228	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:69625228C>T	uc001oph.3	-	2	1056	c.565G>A	c.(565-567)Gag>Aag	p.E189K		NM_005247	NP_005238	P11487	FGF3_HUMAN	Homo sapiens fibroblast growth factor 3 (FGF3), mRNA.	189					fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of cardiac muscle tissue development|positive regulation of cell division|positive regulation of cell proliferation	extracellular region	growth factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|urinary_tract(1)	13			LUSC - Lung squamous cell carcinoma(11;5.05e-15)|STAD - Stomach adenocarcinoma(18;0.0278)			CGCACCATCTCGTGGTCCCTG	0.692000														3			8		0	0	0.006214	0	0
IARS	3376	broad.mit.edu	37	9	95043111	95043111	+	Missense_Mutation	SNP	A	G	G			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr9:95043111A>G	uc004art.1	-	6	919	c.662T>C	c.(661-663)gTt>gCt	p.V221A	IARS_uc004ars.1_Missense_Mutation_p.V66A|IARS_uc004aru.3_Missense_Mutation_p.V221A|IARS_uc010mqr.2_Missense_Mutation_p.V111A|IARS_uc010mqt.2_Intron	NM_013417	NP_038203	P41252	SYIC_HUMAN	Homo sapiens isoleucyl-tRNA synthetase (IARS), transcript variant long, mRNA.	221					isoleucyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	ATP binding|isoleucine-tRNA ligase activity|protein binding			breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35					L-Isoleucine(DB00167)	TGTCCAAGCAACTAAAGATAC	0.368000														1			24		0	0	0.003954	0	0
FCGBP	8857	broad.mit.edu	37	19	40363084	40363084	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:40363084C>T	uc002omp.4	-	31	14994	c.14986G>A	c.(14986-14988)Gac>Aac	p.D4996N		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	4996	VWFD 12.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			AGGACAAAGTCGTCACTCCAG	0.642000														17			7		0	0	0.003080	0	0
RPS18	6222	broad.mit.edu	37	6	33240417	33240417	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr6:33240417C>T	uc003odp.1	+	1	61	c.16C>T	c.(16-18)Cct>Tct	p.P6S	VPS52_uc003odm.1_5'Flank|VPS52_uc003odn.1_5'Flank|VPS52_uc003odo.1_5'Flank|VPS52_uc011dqy.1_5'Flank|VPS52_uc011dqz.1_5'Flank|RPS18_uc010jum.1_Non-coding_Transcript	NM_022551	NP_072045	P62269	RS18_HUMAN	Homo sapiens ribosomal protein S18 (RPS18), mRNA.	6					endocrine pancreas development|ribosome biogenesis|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	rRNA binding|structural constituent of ribosome			kidney(2)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	9						TCTAGTGATCCCTGAAAAGTT	0.428000														195			62		0	0	0.014410	0	0
MUC7	4589	broad.mit.edu	37	4	71347538	71347538	+	Silent	SNP	T	C	C			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr4:71347538T>C	uc011cat.2	+	3	1365	c.1077T>C	c.(1075-1077)ttT>ttC	p.F359F	MUC7_uc011cau.2_Silent_p.F359F|MUC7_uc003hfj.3_Silent_p.F359F	NM_001145006	NP_689504	Q8TAX7	MUC7_HUMAN	Homo sapiens mucin 7, secreted (MUC7), transcript variant 1, mRNA.	359						extracellular region	protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			TTTCTCGATTTCTTTTATATA	0.363000														39			21		0	0	0.014323	0	0
FOXK2	3607	broad.mit.edu	37	17	80540786	80540787	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr17:80540786_80540787CC>TT	uc002kfn.3	+	4	1250_1251	c.1079_1080CC>TT	c.(1078-1080)acc>aTT	p.T360I	FOXK2_uc002kfm.1_Missense_Mutation_p.T360I|FOXK2_uc010diu.3_Intron	NM_004514	NP_004505	Q01167	FOXK2_HUMAN	Homo sapiens forkhead box K2 (FOXK2), mRNA.	360					embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1)	17	Breast(20;0.00106)|all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0371)|BRCA - Breast invasive adenocarcinoma(99;0.0415)			TGCTTTAGAACCCCTCTGGGAC	0.470000														20			9		0	0	0.004672	0	0
PCDH11X	27328	broad.mit.edu	37	X	91723302	91723302	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:91723302C>T	uc004efk.2	+	5	4193	c.3348C>T	c.(3346-3348)ttC>ttT	p.F1116F	PCDH11X_uc004efl.2_Silent_p.F1106F|PCDH11X_uc010nmv.2_Missense_Mutation_p.S1062L|PCDH11X_uc004efm.2_Intron|PCDH11X_uc004efn.2_Intron|PCDH11X_uc004efo.2_Silent_p.F1079F	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN	Homo sapiens protocadherin 11 X-linked (PCDH11X), transcript variant c, mRNA.	1116					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						TTTTAGCTTTCATACCTGGAC	0.269000														5			4		0	0	0.004007	0	0
MED12L	116931	broad.mit.edu	37	3	150877703	150877703	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:150877703G>A	uc003eyp.3	+	6	1051	c.922G>A	c.(922-924)Gat>Aat	p.D308N	MED12L_uc011bnz.2_Intron|MED12L_uc003eyn.3_Missense_Mutation_p.D308N|MED12L_uc003eyo.3_Missense_Mutation_p.D308N	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	Homo sapiens mediator complex subunit 12-like (MED12L), mRNA.	308					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)			GCTGCTGAGCGATAGCCCCAA	0.577000														83			64		0	0	0.014410	0	0
MUM1L1	139221	broad.mit.edu	37	X	105449609	105449609	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:105449609C>T	uc022cca.1	+	0	184	c.184C>T	c.(184-186)Caa>Taa	p.Q62*	MUM1L1_uc004emg.2_Nonsense_Mutation_p.Q62*|MUM1L1_uc004emf.2_Nonsense_Mutation_p.Q62*	NM_001171020	NP_001164491	Q5H9M0	MUML1_HUMAN	Homo sapiens melanoma associated antigen (mutated) 1-like 1 (MUM1L1), transcript variant 1, mRNA.	62										autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						AAATAAATCTCAAATTGAAGC	0.398000														23			20		0	0	0.002780	0	0
ACTL7A	10881	broad.mit.edu	37	9	111624630	111624630	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr9:111624630G>A	uc004bdj.1	+	0	28	c.28G>A	c.(28-30)Ggg>Agg	p.G10R		NM_006687	NP_006678	Q9Y615	ACL7A_HUMAN	Homo sapiens actin-like 7A (ACTL7A), mRNA.	10						cytoplasm|cytoskeleton|protein complex	structural constituent of cytoskeleton			breast(1)|endometrium(2)|large_intestine(4)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						AGCAATCATGGGGGATGGGCC	0.597000														4			25		0	0	0.004656	0	0
C1orf150	148823	broad.mit.edu	37	1	247737503	247737503	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:247737503C>T	uc001idf.3	+	4	374	c.227C>T	c.(226-228)cCc>cTc	p.P76L	C1orf150_uc009xgw.3_Non-coding_Transcript|C1orf150_uc001ida.4_Non-coding_Transcript|C1orf150_uc001idb.4_Non-coding_Transcript|C1orf150_uc009xgx.3_Non-coding_Transcript	NM_145278	NP_660321	Q5JQS6	CA150_HUMAN	Homo sapiens chromosome 1 open reading frame 150 (C1orf150), mRNA.	76										breast(1)|large_intestine(2)|lung(10)|skin(2)	15	all_cancers(71;3.24e-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)		OV - Ovarian serous cystadenocarcinoma(106;0.0241)			AATCACATCCCCCATCAGAGA	0.453000														1			114		0	0	0.014410	0	0
CPNE9	151835	broad.mit.edu	37	3	9754705	9754705	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:9754705C>T	uc021wst.1	+	9	763	c.592C>T	c.(592-594)Cct>Tct	p.P198S	CPNE9_uc003bsd.3_Missense_Mutation_p.P197S	NM_153635	NP_705899	Q8IYJ1	CPNE9_HUMAN	Homo sapiens copine family member IX (CPNE9), mRNA.	198	C2 2.									breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	16	Medulloblastoma(99;0.227)					CACGCTGAATCCTGTGTGGCA	0.532000														24			18		0	0	0.007413	0	0
ANKS1B	56899	broad.mit.edu	37	12	99640632	99640632	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:99640632G>A	uc001tge.2	-	12	2184	c.1767C>T	c.(1765-1767)tcC>tcT	p.S589S	ANKS1B_uc001tgf.2_Silent_p.S169S|ANKS1B_uc001tgk.3_5'UTR|ANKS1B_uc009ztt.1_Silent_p.S555S	NM_152788	NP_690001	Q7Z6G8	ANS1B_HUMAN	Homo sapiens ankyrin repeat and sterile alpha motif domain containing 1B (ANKS1B), transcript variant 1, mRNA.	589						Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		CATCCTGTCGGGAGAGGTCAT	0.478000														90			75		0	0	0.014410	0	0
OR6F1	343169	broad.mit.edu	37	1	247875604	247875604	+	Missense_Mutation	SNP	C	A	A	rs138812909	byFrequency	TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:247875604C>A	uc001idj.1	-	0	454	c.454G>T	c.(454-456)Ggt>Tgt	p.G152C		NM_001005286	NP_001005286	Q8NGZ6	OR6F1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily F, member 1 (OR6F1), mRNA.	152					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-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)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			GCCACGAAACCACACACCCAG	0.582000														85			56		4.09171e-25	5.56145e-25	0.014410	1	0
MYRIP	25924	broad.mit.edu	37	3	40231918	40231918	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:40231918C>T	uc003cka.3	+	9	1764	c.1629C>T	c.(1627-1629)tcC>tcT	p.S543S	MYRIP_uc010hhu.3_Non-coding_Transcript|MYRIP_uc010hhv.3_Silent_p.S543S|MYRIP_uc010hhw.3_Silent_p.S454S|MYRIP_uc011ayz.2_Silent_p.S356S|FLJ33065_uc003ckb.3_Intron	NM_015460	NP_056275	Q8NFW9	MYRIP_HUMAN	Homo sapiens myosin VIIA and Rab interacting protein (MYRIP), mRNA.	543	Actin-binding.|Myosin-binding.				intracellular protein transport		actin binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)		AACCATCTTCCCCCAGCGCCC	0.602000														22			11		0	0	0.002450	0	0
SUMO2	6613	broad.mit.edu	37	17	73170892	73170892	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr17:73170892G>A	uc002jne.3	-	2	349	c.180C>T	c.(178-180)ttC>ttT	p.F60F	SUMO2_uc002jnf.3_Intron	NM_006937	NP_008868	P61956	SUMO2_HUMAN	Homo sapiens SMT3 suppressor of mif two 3 homolog 2 (S. cerevisiae) (SUMO2), transcript variant 1, mRNA.	60	Ubiquitin-like.				positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation	nucleus	ubiquitin protein ligase binding			NS(1)	1	all_lung(278;0.14)|Lung NSC(278;0.168)					CGTCAAATCGGAATCTGATCT	0.338000														14			16		0	0	0.012319	0	0
NSD1	64324	broad.mit.edu	37	5	176638709	176638709	+	Silent	SNP	C	T	T	rs142096976		TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:176638709C>T	uc003mfr.4	+	4	3447	c.3309C>T	c.(3307-3309)gaC>gaT	p.D1103D	NSD1_uc003mft.4_Silent_p.D834D|NSD1_uc003mfs.1_Silent_p.D1000D|NSD1_uc011dfx.2_Silent_p.D751D	NM_022455	NP_071900	Q96L73	NSD1_HUMAN	Homo sapiens nuclear receptor binding SET domain protein 1 (NSD1), transcript variant 2, mRNA.	1103					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		AAGATGGTGACCATTTTTCTG	0.443000			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)				31			32		0	0	0.009535	0	0
EVC	2121	broad.mit.edu	37	4	5811294	5811294	+	Missense_Mutation	SNP	C	T	T	rs148823298		TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr4:5811294C>T	uc003gil.1	+	18	2922	c.2738C>T	c.(2737-2739)cCc>cTc	p.P913L	EVC_uc003gim.1_Non-coding_Transcript	NM_153717	NP_714928	P57679	EVC_HUMAN	Homo sapiens Ellis van Creveld syndrome (EVC), mRNA.	913					muscle organ development	integral to membrane		p.P913L(2)		NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28		Myeloproliferative disorder(84;0.117)				GCCCGAGTGCCCCTTGCTGAA	0.562000														19			29		0	0	0.006230	0	0
ANKRD34B	340120	broad.mit.edu	37	5	79854664	79854664	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:79854664C>T	uc010jam.3	-	3	1525	c.1175G>A	c.(1174-1176)gGa>gAa	p.G392E	ANKRD34B_uc003kgw.3_Missense_Mutation_p.G392E|ANKRD34B_uc010jan.3_Missense_Mutation_p.G392E|ANKRD34B_uc021yax.1_Missense_Mutation_p.G392E	NM_001004441	NP_001004441	A5PLL1	AN34B_HUMAN	Homo sapiens ankyrin repeat domain 34B (ANKRD34B), mRNA.	392						cytoplasm|nucleus				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	28		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-46)|Epithelial(54;5.64e-41)|all cancers(79;3.24e-36)		CTTTTTCTTTCCTATAAGTGC	0.473000														28			21		0	0	0.010504	0	0
WAC	51322	broad.mit.edu	37	10	28897159	28897159	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr10:28897159C>T	uc001iuf.3	+	7	1052	c.964C>T	c.(964-966)Cct>Tct	p.P322S	WAC_uc001iud.3_Missense_Mutation_p.P277S|WAC_uc001iue.3_Intron|WAC_uc009xlb.3_Missense_Mutation_p.P277S|WAC_uc001iug.3_Missense_Mutation_p.P219S|WAC_uc001iuh.3_Missense_Mutation_p.P277S	NM_016628	NP_057712	Q9BTA9	WAC_HUMAN	Homo sapiens WW domain containing adaptor with coiled-coil (WAC), transcript variant 1, mRNA.	322					cell cycle checkpoint|histone H2B conserved C-terminal lysine ubiquitination|histone monoubiquitination|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nuclear speck	RNA polymerase II core binding|chromatin binding	p.P322H(1)		NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|urinary_tract(1)	32						TTGCACAACTCCTTCCACGTC	0.448000														56			44		0	0	0.014410	0	0
TRPM6	140803	broad.mit.edu	37	9	77339641	77339641	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr9:77339641G>A	uc004ajl.1	-	38	6195	c.5957C>T	c.(5956-5958)tCc>tTc	p.S1986F	TRPM6_uc004ajk.1_Missense_Mutation_p.S1981F|TRPM6_uc022bib.1_Missense_Mutation_p.S1981F|TRPM6_uc010mpb.1_Non-coding_Transcript|TRPM6_uc010mpc.1_Missense_Mutation_p.S937F|TRPM6_uc010mpd.1_Missense_Mutation_p.S819F|TRPM6_uc010mpe.1_Missense_Mutation_p.S533F|TRPM6_uc004ajj.1_Missense_Mutation_p.S942F	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 6 (TRPM6), transcript variant a, mRNA.	1986					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						CCTTTCAGGGGAATAGTCATT	0.413000														7			30		0	0	0.009535	0	0
DEFB119	245932	broad.mit.edu	37	20	29965206	29965206	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr20:29965206C>T	uc002wvt.3	-	1	218	c.98G>A	c.(97-99)gGa>gAa	p.G33E	DEFB119_uc002wvs.3_3'UTR	NM_153289	NP_695021	Q8N690	DB119_HUMAN	Homo sapiens defensin, beta 119 (DEFB119), transcript variant 1, mRNA.	33					defense response to bacterium	extracellular region				large_intestine(2)|lung(1)|prostate(1)	4	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			CCTACAAATTCCACTGTTACC	0.428000														60			48		0	0	0.014410	0	0
POTEE	445582	broad.mit.edu	37	2	132020967	132020967	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:132020967G>A	uc002tsn.2	+	14	1991	c.1939G>A	c.(1939-1941)Gaa>Aaa	p.E647K	PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_Missense_Mutation_p.E247K|POTEE_uc002tsl.2_Missense_Mutation_p.E229K|POTEE_uc010fmy.1_Missense_Mutation_p.E111K	NM_001083538	NP_001077007	Q6S8J3	POTEE_HUMAN	Homo sapiens POTE ankyrin domain family, member E (POTEE), mRNA.	647							ATP binding										CGTCTTGCATGAAAATAGTAC	0.353000														25			29		0	0	0.003271	0	0
OR5I1	10798	broad.mit.edu	37	11	55703181	55703181	+	Silent	SNP	A	G	G			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:55703181A>G	uc010ris.2	-	0	696	c.696T>C	c.(694-696)tcT>tcC	p.S232S		NM_006637	NP_006628	Q13606	OR5I1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily I, member 1 (OR5I1), mRNA.	232					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R231C(1)|p.R231G(1)|p.R231H(1)|p.R231S(1)		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						TCCCACTGAAAGAGCGGATCT	0.458000														7			6		0	0	0.001168	0	0
POU3F4	5456	broad.mit.edu	37	X	82763704	82763704	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:82763704C>T	uc004eeg.2	+	0	436	c.372C>T	c.(370-372)atC>atT	p.I124I		NM_000307	NP_000298	P49335	PO3F4_HUMAN	Homo sapiens POU class 3 homeobox 4 (POU3F4), mRNA.	124					sensory perception of sound	nucleus	sequence-specific DNA binding transcription factor activity			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	37						ACCCGTCTATCACGTCAAGCG	0.662000														15			16		0	0	0.006122	0	0
PCDHB8	56128	broad.mit.edu	37	5	140558497	140558497	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:140558497G>A	uc011dai.2	+	0	1127	c.882G>A	c.(880-882)aaG>aaA	p.K294K	PCDHB16_uc003liv.3_5'Flank	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	Homo sapiens protocadherin beta 8 (PCDHB8), mRNA.	294	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AAACTTTTAAGGTCGATTTCT	0.413000														310			58		0	0	0.014410	0	0
SCAND3	114821	broad.mit.edu	37	6	28540746	28540746	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr6:28540746C>T	uc003nlo.3	-	3	3538	c.2920G>A	c.(2920-2922)Gct>Act	p.A974T		NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN	Homo sapiens SCAN domain containing 3 (SCAND3), mRNA.	974					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						gtcattgaagctgcaccatca	0.368000														50			70		0	0	0.014410	0	0
ANO4	121601	broad.mit.edu	37	12	101295595	101295595	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:101295595G>A	uc010svm.1	+	1	604	c.32G>A	c.(31-33)gGa>gAa	p.G11E	ANO4_uc010svl.1_Non-coding_Transcript|ANO4_uc001thw.2_Missense_Mutation_p.G11E|ANO4_uc001thx.2_Missense_Mutation_p.G11E	NM_178826	NP_849148	Q32M45	ANO4_HUMAN	Homo sapiens anoctamin 4 (ANO4), mRNA.	11						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						ATCACTAATGGAAAAACCAAA	0.493000										HNSCC(74;0.22)				65			27		0	0	0.006320	0	0
TTN	7273	broad.mit.edu	37	2	179393070	179393070	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:179393070C>T	uc021vsy.1	-	309	99829	c.99604G>A	c.(99604-99606)Gga>Aga	p.G33202R	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.G26897R|TTN_uc021vta.1_Missense_Mutation_p.G26830R|TTN_uc021vtb.1_Missense_Mutation_p.G26705R|TTN_uc002umq.3_Missense_Mutation_p.G219R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	34129							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)			GTGTACTTTCCACTGTCGCTG	0.413000														30			31		0	0	0.012213	0	0
OR4K5	79317	broad.mit.edu	37	14	20388892	20388892	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr14:20388892C>T	uc010tkw.2	+	0	127	c.127C>T	c.(127-129)Ctt>Ttt	p.L43F		NM_001005483	NP_001005483	Q8NGD3	OR4K5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 5 (OR4K5), mRNA.	43					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GCTGGGAAATCTTCTCATTAT	0.403000														108			44		0	0	0.014410	0	0
FBXO10	26267	broad.mit.edu	37	9	37537215	37537215	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr9:37537215G>A	uc004aac.3	-	2	1439	c.1359C>T	c.(1357-1359)ttC>ttT	p.F453F	FBXO10_uc004aab.3_Silent_p.F437F|FBXO10_uc004aad.3_Intron	NM_012166	NP_036298	Q9UK96	FBX10_HUMAN	Homo sapiens F-box protein 10 (FBXO10), mRNA.	437						ubiquitin ligase complex	ubiquitin-protein ligase activity			breast(1)|endometrium(5)|large_intestine(11)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	34				GBM - Glioblastoma multiforme(29;0.0107)		TCCCGTCCCGGAAGAGGCACT	0.587000														22			21		0	0	0.010504	0	0
HK2	3099	broad.mit.edu	37	2	75101507	75101507	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:75101507C>T	uc002snd.3	+	6	2732	c.806C>T	c.(805-807)tCg>tTg	p.S269L		NM_000189	NP_000180	P52789	HXK2_HUMAN	Homo sapiens hexokinase 2 (HK2), mRNA.	269	Regulatory.				apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						GACGATGGCTCGCTCAACGAC	0.572000														8			10		0	0	0.006214	0	0
HOXC13	3229	broad.mit.edu	37	12	54333195	54333195	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:54333195G>A	uc001sei.3	+	0	620	c.505G>A	c.(505-507)Gcc>Acc	p.A169T		NM_017410	NP_059106	P31276	HXC13_HUMAN	Homo sapiens homeobox C13 (HOXC13), mRNA.	169						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(1)|skin(1)	3						GTCCTCTAGGGCCAAGGAGTT	0.672000			T	NUP98	AML									7			6		0	0	0.001984	0	0
BCMO1	53630	broad.mit.edu	37	16	81279168	81279168	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr16:81279168C>T	uc002fgn.1	+	1	371	c.153C>T	c.(151-153)ttC>ttT	p.F51F	BCMO1_uc002fgm.1_Silent_p.F51F|BCMO1_uc010vnp.1_Nonsense_Mutation_p.R26*	NM_017429	NP_059125	Q9HAY6	BCDO1_HUMAN	Homo sapiens beta-carotene 15,15'-monooxygenase 1 (BCMO1), mRNA.	51					retinoid metabolic process|steroid metabolic process	cytosol	beta-carotene 15,15'-monooxygenase activity|metal ion binding|monooxygenase activity			breast(2)|endometrium(1)|large_intestine(4)|lung(9)|prostate(3)|skin(3)|stomach(1)	23						ACCATTGGTTCGACGGCCTTG	0.577000														48			38		0	0	0.009718	0	0
UPK3A	7380	broad.mit.edu	37	22	45683288	45683288	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr22:45683288C>T	uc003bfy.3	+	2	471	c.444C>T	c.(442-444)ttC>ttT	p.F148F	UPK3A_uc010gzy.3_Intron	NM_006953	NP_008884	O75631	UPK3A_HUMAN	Homo sapiens uroplakin 3A (UPK3A), transcript variant 1, mRNA.	148					epithelial cell differentiation	endoplasmic reticulum membrane|integral to membrane				kidney(1)|large_intestine(1)|lung(2)|skin(1)	5		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		ATCCCAACTTCCAGGGCCTCT	0.607000														5			5		0	0	0.001984	0	0
NAV3	89795	broad.mit.edu	37	12	78574770	78574770	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:78574770G>A	uc001syp.3	+	29	5810	c.5637G>A	c.(5635-5637)agG>agA	p.R1879R	NAV3_uc001syo.3_Silent_p.R1857R|NAV3_uc010sub.2_Silent_p.R1336R|NAV3_uc009zsf.3_Silent_p.R688R	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	Homo sapiens neuron navigator 3 (NAV3), mRNA.	1879	Ser-rich.					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						CATCTTCCAGGCAGTCATTAG	0.473000										HNSCC(70;0.22)				52			40		0	0	0.008740	0	0
PPFIA2	8499	broad.mit.edu	37	12	82070582	82070582	+	Silent	SNP	C	G	G			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:82070582C>G	uc001szo.2	-	3	452	c.291G>C	c.(289-291)ggG>ggC	p.G97G	PPFIA2_uc021rbi.1_Silent_p.G97G|PPFIA2_uc021rbj.1_Silent_p.G97G|PPFIA2_uc021rbk.1_Intron|PPFIA2_uc021rbl.1_Silent_p.G97G	NM_003625	NP_003616	B7Z663	B7Z663_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2 (PPFIA2), transcript variant 1, mRNA.	14										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						GTGGATCAGCCCCCTTAGAAC	0.403000														12			13		0	0	0.003163	0	0
HLA-DQA1	3117	broad.mit.edu	37	6	32609835	32609835	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr6:32609835C>T	uc003obr.3	+	2	471	c.418C>T	c.(418-420)Cct>Tct	p.P140S	HLA-DQA1_uc003obs.3_Non-coding_Transcript|HLA-DQA1_uc003obt.1_Missense_Mutation_p.P140S|HLA-DQA1_uc003obu.3_5'Flank|HLA-DQA1_uc021yvy.1_5'Flank	NM_002122	NP_002113	P01909	DQA1_HUMAN	Homo sapiens major histocompatibility complex, class II, DQ alpha 1 (HLA-DQA1), mRNA.	139	Alpha-2.|Ig-like C1-type.				T cell costimulation|T cell receptor signaling pathway|antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway	Golgi apparatus|MHC class II protein complex|endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane|lysosomal membrane	MHC class II receptor activity			NS(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6						CAACATCTTTCCTCCTGTGGT	0.498000														34			12		0	0	0.007413	0	0
TMEM132D	121256	broad.mit.edu	37	12	130015696	130015696	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:130015696G>A	uc009zyl.1	-	2	1351	c.1023C>T	c.(1021-1023)tcC>tcT	p.S341S		NM_133448	NP_597705	Q14C87	T132D_HUMAN	Homo sapiens transmembrane protein 132D (TMEM132D), mRNA.	341						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		CATCCCAAATGGAAGGGCTGC	0.537000														39			32		0	0	0.003755	0	0
XIRP2	129446	broad.mit.edu	37	2	168106510	168106510	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:168106510C>T	uc002udx.3	+	8	8697	c.8608C>T	c.(8608-8610)Cag>Tag	p.Q2870*	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Nonsense_Mutation_p.Q2695*|XIRP2_uc010fpq.3_Nonsense_Mutation_p.Q2648*|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	2695					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TCAGAATTTTCAGCAAACACA	0.388000														61			48		0	0	0.014410	0	0
DIAPH2	1730	broad.mit.edu	37	X	96502837	96502837	+	Splice_Site	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:96502837C>T	uc004efu.4	+	23	3240	c.2844_splice	c.e23+1	p.T948_splice	DIAPH2_uc004eft.4_Splice_Site_p.T948_splice	NM_006729	NP_006720	O60879	DIAP2_HUMAN	Homo sapiens diaphanous homolog 2 (Drosophila) (DIAPH2), transcript variant 156, mRNA.	948	FH2.				cell differentiation|cytokinesis|multicellular organismal development|oogenesis	Golgi apparatus|cytosol|early endosome|mitochondrion|nucleolus	Rho GTPase binding|receptor binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						GAAAAGATGACCATATCCTTT	0.343000														33			33		0	0	0.004289	0	0
OR51G1	79324	broad.mit.edu	37	11	4944777	4944777	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:4944777G>A	uc010qyr.2	-	0	793	c.793C>T	c.(793-795)Cgc>Tgc	p.R265C		NM_001005237	NP_001005237	Q8NGK1	O51G1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily G, member 1 (OR51G1), mRNA.	265					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R265C(2)|p.R265H(1)		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)		TCACCAAAGCGATGCACAAGA	0.517000														46			34		0	0	0.003271	0	0
SYNJ2	8871	broad.mit.edu	37	6	158484847	158484847	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr6:158484847G>A	uc003qqx.2	+	8	1258	c.1152G>A	c.(1150-1152)atG>atA	p.M384I	SYNJ2_uc011efm.2_Non-coding_Transcript|SYNJ2_uc003qqw.2_Missense_Mutation_p.M384I|SYNJ2_uc003qqy.2_Missense_Mutation_p.M147I|SYNJ2_uc011efn.1_Missense_Mutation_p.M312I|SYNJ2_uc010kjo.1_Missense_Mutation_p.M333I|SYNJ2_uc003qqz.2_Missense_Mutation_p.M1I	NM_003898	NP_001171559	O15056	SYNJ2_HUMAN	Homo sapiens synaptojanin 2 (SYNJ2), transcript variant 1, mRNA.	384	SAC.						RNA binding|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		CTTTGCGGATGAACTGTCTTG	0.512000														9			54		0	0	0.014410	0	0
CARD14	79092	broad.mit.edu	37	17	78162280	78162280	+	Silent	SNP	G	C	C			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr17:78162280G>C	uc002jxw.1	+	4	974	c.780G>C	c.(778-780)ggG>ggC	p.G260G	CARD14_uc002jxt.1_Non-coding_Transcript|CARD14_uc002jxv.3_Silent_p.G260G|CARD14_uc010wud.1_Non-coding_Transcript|CARD14_uc002jxx.3_Silent_p.G23G|CARD14_uc010dhu.1_Silent_p.G58G	NM_024110	NP_077015	Q9BXL6	CAR14_HUMAN	Homo sapiens caspase recruitment domain family, member 14 (CARD14), transcript variant 1, mRNA.	260					activation of NF-kappaB-inducing kinase activity|positive regulation of protein phosphorylation|regulation of apoptosis	aggresome|cytoplasm|plasma membrane	CARD domain binding			NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(5)|prostate(1)|skin(1)	23	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			AGGAGTCCGGGGATGAGGAGC	0.597000														17			17		0	0	0.006122	0	0
TAS2R38	5726	broad.mit.edu	37	7	141673385	141673385	+	Silent	SNP	G	A	A	rs144536521		TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:141673385G>A	uc003vwx.1	-	0	189	c.105C>T	c.(103-105)ttC>ttT	p.F35F		NM_176817	NP_789787	P59533	T2R38_HUMAN	Homo sapiens taste receptor, type 2, member 38 (TAS2R38), mRNA.	35					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1)	21	Melanoma(164;0.0171)					CCAAGAAAACGAAGGCATTGG	0.483000														53			33		0	0	0.004289	0	0
CGREF1	10669	broad.mit.edu	37	2	27324350	27324350	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:27324350C>T	uc010eyr.2	-	4	1120	c.1115G>A	c.(1114-1116)gGa>gAa	p.G372E	CGREF1_uc010ylf.2_Intron|CGREF1_uc021vez.1_Intron|CGREF1_uc002riq.3_Missense_Mutation_p.G250E|CGREF1_uc021vfa.1_Missense_Mutation_p.G250E|CGREF1_uc010eys.2_Missense_Mutation_p.G250E|CGREF1_uc002rir.2_Missense_Mutation_p.G250E	NM_006569	NP_006560	Q99674	CGRE1_HUMAN	Homo sapiens cell growth regulator with EF-hand domain 1 (CGREF1), transcript variant 1, mRNA.	250					cell adhesion|cell cycle arrest|negative regulation of cell proliferation|response to stress	extracellular region	calcium ion binding			kidney(1)|lung(4)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGGGGCATCTCCTTCAGCCTC	0.706000														74			43		0	0	0.008740	0	0
ACTBL2	345651	broad.mit.edu	37	5	56778487	56778487	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:56778487C>T	uc003jrm.3	-	0	150	c.48G>A	c.(46-48)ggG>ggA	p.G16G		NM_001017992	NP_001017992	Q562R1	ACTBL_HUMAN	Homo sapiens actin, beta-like 2 (ACTBL2), mRNA.	16						cytoplasm|cytoskeleton	ATP binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(3)|pancreas(1)|prostate(2)	28		Lung NSC(810;0.000135)|Prostate(74;0.055)|Breast(144;0.0707)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;4.24e-37)		CCTTGCACATCCCTGACCCAT	0.567000														22			16		0	0	0.004007	0	0
MID1	4281	broad.mit.edu	37	X	10463689	10463689	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:10463689C>T	uc004cte.4	-	3	989	c.799G>A	c.(799-801)Gat>Aat	p.D267N	MID1_uc004ctd.4_5'UTR|MID1_uc004ctg.4_Missense_Mutation_p.D267N|MID1_uc004cth.4_Missense_Mutation_p.D229N|MID1_uc004ctk.4_Missense_Mutation_p.D267N|MID1_uc004ctj.4_Missense_Mutation_p.D267N|MID1_uc004cti.4_Missense_Mutation_p.D267N|MID1_uc011mie.1_Non-coding_Transcript|MID1_uc004ctm.2_Missense_Mutation_p.D318N|MID1_uc004ctn.2_Missense_Mutation_p.D267N|MID1_uc004cto.2_Missense_Mutation_p.D229N|MID1_uc010ndw.1_5'UTR|MID1_uc004cts.1_Missense_Mutation_p.D34N|MID1_uc004ctt.3_Missense_Mutation_p.D318N|MID1_uc004ctu.3_Missense_Mutation_p.D267N|MID1_uc004ctv.3_Missense_Mutation_p.D280N|MID1_uc004ctw.3_Missense_Mutation_p.D229N|MID1_uc010ndy.2_Intron|MID1_uc004ctc.4_Missense_Mutation_p.D34N|MID1_uc004ctp.1_Non-coding_Transcript|MID1_uc004ctq.1_Missense_Mutation_p.D34N|MID1_uc004ctr.1_Missense_Mutation_p.D34N|MID1_uc010ndu.1_Missense_Mutation_p.D34N|MID1_uc010ndv.1_5'UTR|MID1_uc010ndx.2_Non-coding_Transcript	NM_001193277	NP_150632	O15344	TRI18_HUMAN	Homo sapiens midline 1 (Opitz/BBB syndrome) (MID1), transcript variant 2, mRNA.	267					microtubule cytoskeleton organization|pattern specification process|positive regulation of stress-activated MAPK cascade	cytoplasm|microtubule|microtubule associated complex|spindle	ligase activity|ubiquitin protein ligase binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	26						ATGAGAAGATCACACTCCTCT	0.383000														45			31		0	0	0.007835	0	0
GSTM2P1	442245	broad.mit.edu	37	6	111368202	111368202	+	Silent	SNP	A	G	G			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr6:111368202A>G	uc003puq.3	-	0	556	c.421T>C	c.(421-423)Ttg>Ctg	p.L141L						Homo sapiens glutathione S-transferase mu 2 (muscle) pseudogene 1 (GSTM2P1), non-coding RNA.																		AAGGCGTCCAACCACTTGGGC	0.493000														2			46		0	0	0.014410	0	0
ITGA5	3678	broad.mit.edu	37	12	54799659	54799659	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:54799659C>T	uc001sga.3	-	9	1026	c.958G>A	c.(958-960)Gaa>Aaa	p.E320K	ITGA5_uc010sow.1_Non-coding_Transcript|ITGA5_uc009znp.1_Non-coding_Transcript	NM_002205	NP_002196	P08648	ITA5_HUMAN	Homo sapiens integrin, alpha 5 (fibronectin receptor, alpha polypeptide) (ITGA5), mRNA.	320					angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells	alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle	platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						CTTACCTGTTCCCCTGAGAAG	0.542000														52			31		0	0	0.005524	0	0
DNAH8	1769	broad.mit.edu	37	6	38820989	38820989	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr6:38820989C>T	uc021yzh.1	+	40	5708	c.5599C>T	c.(5599-5601)Cct>Tct	p.P1867S	DNAH8_uc003ooe.2_Missense_Mutation_p.P1650S	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GGCCAAAGGTCCTGTGGAGAT	0.313000														56			25		0	0	0.008361	0	0
SRP9	6726	broad.mit.edu	37	1	225971047	225971047	+	Missense_Mutation	SNP	G	C	C			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:225971047G>C	uc001hpg.3	+	1	246	c.118G>C	c.(118-120)Gtt>Ctt	p.V40L	SRP9_uc001hpf.4_Non-coding_Transcript|SRP9_uc001hph.3_Missense_Mutation_p.V40L|SRP9_uc001hpi.4_Non-coding_Transcript	NM_003133	NP_003124	P49458	SRP09_HUMAN	Homo sapiens signal recognition particle 9kDa (SRP9), transcript variant 2, mRNA.	40					SRP-dependent cotranslational protein targeting to membrane|negative regulation of translational elongation	cytosol|signal recognition particle receptor complex|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|signal recognition particle binding			endometrium(1)|kidney(1)|skin(1)	3						GAACTTGTGTGTTAAAGTAAC	0.269000														4			153		0	0	0.014410	0	0
KIF15	56992	broad.mit.edu	37	3	44856487	44856487	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:44856487C>T	uc003cnx.4	+	19	2617	c.2468C>T	c.(2467-2469)tCa>tTa	p.S823L	KIF15_uc010hiq.3_Missense_Mutation_p.S726L|KIF15_uc010hir.3_5'UTR	NM_020242	NP_064627	Q9NS87	KIF15_HUMAN	Homo sapiens kinesin family member 15 (KIF15), mRNA.	823					blood coagulation|cell proliferation|microtubule-based movement|mitosis	centrosome|cytosol|microtubule|plus-end kinesin complex|spindle	ATP binding|DNA binding|microtubule motor activity			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5)	36				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)		GAATATAGTTCATTCAAAACG	0.353000														39			38		0	0	0.006999	0	0
FGF9	2254	broad.mit.edu	37	13	22275471	22275471	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr13:22275471G>A	uc001uog.2	+	2	1361	c.524G>A	c.(523-525)gGg>gAg	p.G175E		NM_002010	NP_002001	P31371	FGF9_HUMAN	Homo sapiens fibroblast growth factor 9 (glia-activating factor) (FGF9), mRNA.	175					cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|male gonad development|positive regulation of cell division	extracellular space	growth factor activity|heparin binding	p.G175E(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|skin(2)	9		all_cancers(29;1.23e-20)|all_epithelial(30;9.83e-19)|all_lung(29;9.64e-17)|Lung SC(185;0.0262)|Breast(139;0.106)		all cancers(112;3.92e-05)|Epithelial(112;0.000166)|OV - Ovarian serous cystadenocarcinoma(117;0.00314)|Lung(94;0.163)		CCGAGAGAAGGGACTAGGACT	0.418000														24			26		0	0	0.004656	0	0
ACSF2	80221	broad.mit.edu	37	17	48551589	48551589	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr17:48551589C>T	uc010wmm.1	+	15	1937	c.1833C>T	c.(1831-1833)atC>atT	p.I611I	ACSF2_uc002iqu.2_Silent_p.I586I|ACSF2_uc010wml.1_Silent_p.I543I|ACSF2_uc010wmn.1_Silent_p.I573I|ACSF2_uc010wmo.1_Silent_p.I426I|ACSF2_uc010dbt.1_Silent_p.I90I	NM_025149	NP_079425	Q96CM8	ACSF2_HUMAN	Homo sapiens acyl-CoA synthetase family member 2 (ACSF2), mRNA.	586					fatty acid metabolic process	mitochondrion	ATP binding|ligase activity			endometrium(7)|kidney(3)|large_intestine(1)|lung(1)|stomach(1)	13	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			CGAAGTACATCGTGTTTGTCA	0.592000														56			38		0	0	0.008740	0	0
ERAP2	64167	broad.mit.edu	37	5	96215576	96215576	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:96215576C>T	uc003kmq.3	+	1	897	c.187C>T	c.(187-189)Cct>Tct	p.P63S	ERAP1_uc003kmo.1_Intron|ERAP2_uc003kmt.3_Missense_Mutation_p.P63S|ERAP2_uc003kmr.3_Non-coding_Transcript|ERAP2_uc003kms.3_Missense_Mutation_p.P57S|ERAP2_uc003kmu.3_Non-coding_Transcript	NM_022350	NP_071745	Q6P179	ERAP2_HUMAN	Homo sapiens endoplasmic reticulum aminopeptidase 2 (ERAP2), transcript variant 1, mRNA.	63					antigen processing and presentation of endogenous peptide antigen via MHC class I|proteolysis|regulation of blood pressure	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24		all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0703)		GGAACGATTTCCTTGGCAGGA	0.493000														22			20		0	0	0.010504	0	0
NBAS	51594	broad.mit.edu	37	2	15519910	15519910	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:15519910G>A	uc002rcc.1	-	29	3432	c.3406C>T	c.(3406-3408)Cac>Tac	p.H1136Y	NBAS_uc010exl.1_Missense_Mutation_p.H208Y|NBAS_uc002rcd.1_Non-coding_Transcript	NM_015909	NP_056993	A2RRP1	NBAS_HUMAN	Homo sapiens neuroblastoma amplified sequence (NBAS), mRNA.	1136										NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						CCAGCCAGGTGGATGTTTTCA	0.448000														57			42		0	0	0.013114	0	0
CUL9	23113	broad.mit.edu	37	6	43173928	43173928	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr6:43173928C>T	uc003ouk.3	+	24	5052	c.4977C>T	c.(4975-4977)ttC>ttT	p.F1659F	CUL9_uc003oul.3_Silent_p.F1659F|CUL9_uc010jyk.3_Silent_p.F811F	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN	Homo sapiens cullin 9 (CUL9), mRNA.	1659					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						ACAAGTTGTTCTTggagcagg	0.567000														13			11		0	0	0.008291	0	0
ZDHHC4	55146	broad.mit.edu	37	7	6624750	6624750	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:6624750C>T	uc003sqi.3	+	7	958	c.600C>T	c.(598-600)acC>acT	p.T200T	ZDHHC4_uc003sql.3_Silent_p.T200T|ZDHHC4_uc003sqj.3_Silent_p.T200T|ZDHHC4_uc003sqh.3_Silent_p.T200T	NM_001134388	NP_060576	Q9NPG8	ZDHC4_HUMAN	Homo sapiens zinc finger, DHHC-type containing 4 (ZDHHC4), transcript variant 2, mRNA.	200						integral to membrane	acyltransferase activity|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.1)		ACGTCTTGACCTTGACGGCCT	0.522000														58			20		0	0	0.012319	0	0
TFG	10342	broad.mit.edu	37	3	100438853	100438853	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:100438853C>T	uc003duf.3	+	2	404	c.219C>T	c.(217-219)gaC>gaT	p.D73D	TFG_uc003due.3_Silent_p.D73D|TFG_uc003dug.3_Silent_p.D73D|TFG_uc003dui.3_Silent_p.D73D	NM_001007565	NP_006061	Q92734	TFG_HUMAN	Homo sapiens TRK-fused gene (TFG), transcript variant 2, mRNA.	73					positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm	signal transducer activity		TFG/NR4A3(2)|TFG/NTRK1_ENST00000392302(5)|TFG/ALK(9)	large_intestine(4)|lung(2)|prostate(1)|stomach(1)	8						ATAGTTCTGACCTTTCCTTTG	0.249000			T	"""NTRK1, ALK"""	"""papillary thyroid, ALCL, NSCLC"""									49			27		0	0	0.008361	0	0
FAT2	2196	broad.mit.edu	37	5	150929031	150929031	+	Silent	SNP	G	A	A	rs145042858		TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:150929031G>A	uc003lue.4	-	7	4627	c.4614C>T	c.(4612-4614)ttC>ttT	p.F1538F		NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA.	1538	Cadherin 13.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCACCCACACGAAGTTCCTCT	0.537000														25			16		0	0	0.004990	0	0
ZNF521	25925	broad.mit.edu	37	18	22805882	22805882	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr18:22805882G>A	uc002kvk.2	-	3	2247	c.2000C>T	c.(1999-2001)cCt>cTt	p.P667L	ZNF521_uc010xbe.1_Non-coding_Transcript|ZNF521_uc010dly.2_Missense_Mutation_p.P667L|ZNF521_uc002kvl.2_Missense_Mutation_p.P447L	NM_015461	NP_056276	Q96K83	ZN521_HUMAN	Homo sapiens zinc finger protein 521 (ZNF521), mRNA.	667					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					GTTGCACTGAGGACAGGTCAA	0.413000			T	PAX5	ALL									78			58		0	0	0.014410	0	0
FAM135B	51059	broad.mit.edu	37	8	139163757	139163757	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr8:139163757G>A	uc003yuy.3	-	12	3132	c.2961C>T	c.(2959-2961)ccC>ccT	p.P987P	FAM135B_uc003yux.3_Silent_p.P888P|FAM135B_uc003yuz.3_Non-coding_Transcript|FAM135B_uc003yva.3_Silent_p.P549P|FAM135B_uc003yvb.3_Silent_p.P549P	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA.	987										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)			GGGTCACAGTGGGGCACACAG	0.488000										HNSCC(54;0.14)				40			31		0	0	0.008361	0	0
SEMA4D	10507	broad.mit.edu	37	9	92002362	92002362	+	Silent	SNP	G	A	A	rs146117514		TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr9:92002362G>A	uc004aqo.1	-	13	1841	c.1269C>T	c.(1267-1269)atC>atT	p.I423I	SEMA4D_uc011ltm.1_Silent_p.I423I|SEMA4D_uc011ltn.1_Non-coding_Transcript|SEMA4D_uc011lto.1_Non-coding_Transcript|SEMA4D_uc004aqp.1_Silent_p.I423I	NM_006378	NP_006369	Q92854	SEM4D_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D (SEMA4D), transcript variant 1, mRNA.	423	Sema.				anti-apoptosis|axon guidance|cell adhesion|immune response	integral to membrane|plasma membrane	receptor activity|receptor binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(8)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34						GGTCCACCACGATCTGGGTGT	0.532000														4			29		0	0	0.008361	0	0
ADAD2	161931	broad.mit.edu	37	16	84230263	84230263	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr16:84230263G>A	uc002fhq.2	+	9	1897	c.1783G>A	c.(1783-1785)Ggg>Agg	p.G595R	ADAD2_uc002fhr.2_Missense_Mutation_p.G513R|AK123582_uc002fhs.1_Intron	NM_139174	NP_631913	Q8NCV1	ADAD2_HUMAN	Homo sapiens adenosine deaminase domain containing 2 (ADAD2), transcript variant 1, mRNA.	513					RNA processing	intracellular	adenosine deaminase activity|double-stranded RNA binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(1)	13						TGCCGCCCTGGGGCCTCCCTC	0.607000														69			62		0	0	0.014410	0	0
PCDHB3	56132	broad.mit.edu	37	5	140482344	140482344	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:140482344C>T	uc003lio.3	+	0	2111	c.2111C>T	c.(2110-2112)tCg>tTg	p.S704L	BC016751_uc003lin.3_5'Flank	NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	Homo sapiens protocadherin beta 3 (PCDHB3), mRNA.	704					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTCCTCTTTTCGGTGCTCCTG	0.692000														121			84		0	0	0.014410	0	0
TAF1L	138474	broad.mit.edu	37	9	32634574	32634574	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr9:32634574G>A	uc003zrg.1	-	0	1094	c.1004C>T	c.(1003-1005)cCt>cTt	p.P335L	AX747113_uc003zrh.1_Non-coding_Transcript	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like (TAF1L), mRNA.	335					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|TBP-class protein binding|histone acetyltransferase activity|protein serine/threonine kinase activity			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		GGACTCCACAGGAACCATCAT	0.493000														54			39		0	0	0.006999	0	0
MEIS3P1	4213	broad.mit.edu	37	17	15690787	15690787	+	Silent	SNP	G	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr17:15690787G>T	uc002gpc.3	+	0	624	c.603G>T	c.(601-603)acG>acT	p.T201T						Homo sapiens Meis homeobox 3 pseudogene 1 (MEIS3P1), non-coding RNA.																		CGCAGGACACGGGGCTTACCA	0.577000														40			33		1.42033e-22	1.92872e-22	0.004289	1	0
APOBEC3H	164668	broad.mit.edu	37	22	39497339	39497339	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr22:39497339G>A	uc021wpt.1	+	2	375	c.248G>A	c.(247-249)aGc>aAc	p.S83N	APOBEC3H_uc021wps.1_Missense_Mutation_p.S83N|APOBEC3H_uc021wpu.1_Missense_Mutation_p.S83N|APOBEC3H_uc021wpv.1_Missense_Mutation_p.S83N	NM_001166003	NP_001159475	Q6NTF7	ABC3H_HUMAN	Homo sapiens apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3H (APOBEC3H), transcript variant 1, mRNA.	83					DNA cytosine deamination|negative regulation of retroviral genome replication|negative regulation of transposition	cytoplasm|nucleus	cytidine deaminase activity|zinc ion binding			central_nervous_system(1)|kidney(8)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	15	Melanoma(58;0.04)					CTCACGTGGAGCCCCTGCTCC	0.537000														34			22		0	0	0.012319	0	0
DIP2A	23181	broad.mit.edu	37	21	47924366	47924366	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr21:47924366C>T	uc002zjo.2	+	5	931	c.748C>T	c.(748-750)Cgg>Tgg	p.R250W	DIP2A_uc011afy.1_Missense_Mutation_p.R186W|DIP2A_uc011afz.1_Missense_Mutation_p.R250W|DIP2A_uc002zjl.3_Missense_Mutation_p.R250W|DIP2A_uc002zjm.3_Missense_Mutation_p.R250W|DIP2A_uc010gql.3_Intron|DIP2A_uc002zjn.3_Missense_Mutation_p.R250W|DIP2A_uc002zjp.1_5'UTR	NM_015151	NP_055966	Q14689	DIP2A_HUMAN	Homo sapiens DIP2 disco-interacting protein 2 homolog A (Drosophila) (DIP2A), transcript variant 1, mRNA.	250					multicellular organismal development	nucleus	catalytic activity|transcription factor binding			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		AAGTGTTCCTCGGGGGTGCAG	0.532000														18			13		0	0	0.003163	0	0
NLRP14	338323	broad.mit.edu	37	11	7091629	7091629	+	Missense_Mutation	SNP	G	C	C			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:7091629G>C	uc001mfb.1	+	10	3411	c.3088G>C	c.(3088-3090)Gga>Cga	p.G1030R		NM_176822	NP_789792	Q86W24	NAL14_HUMAN	Homo sapiens NLR family, pyrin domain containing 14 (NLRP14), mRNA.	1030					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		AGGATATGAAGGAATTGTGAA	0.383000														35			18		0	0	0.004990	0	0
MUC16	94025	broad.mit.edu	37	19	9076958	9076958	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:9076958C>T	uc002mkp.3	-	2	10692	c.10488G>A	c.(10486-10488)gaG>gaA	p.E3496E		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	3497	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						CCCTCAGAGTCTCAAGCCCTA	0.517000														35			29		0	0	0.006320	0	0
PDGFC	56034	broad.mit.edu	37	4	157771443	157771443	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr4:157771443C>T	uc003iph.2	-	1	735	c.244G>A	c.(244-246)Gaa>Aaa	p.E82K	PDGFC_uc003ipi.2_5'UTR|PDGFC_uc011cis.2_Intron|PDGFC_uc011cir.2_5'UTR	NM_016205	NP_057289	Q9NRA1	PDGFC_HUMAN	Homo sapiens platelet derived growth factor C (PDGFC), transcript variant 1, mRNA.	82	CUB.				central nervous system development|platelet-derived growth factor receptor signaling pathway|positive regulation of DNA replication|positive regulation of cell division|positive regulation of fibroblast proliferation|vascular endothelial growth factor receptor signaling pathway	Golgi membrane|endoplasmic reticulum lumen|extracellular space|nucleus	cell surface binding|growth factor activity|platelet-derived growth factor receptor binding|protein homodimerization activity			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.08)|Kidney(143;0.0977)|COAD - Colon adenocarcinoma(41;0.212)		CATACATTTTCCTCTACTGCT	0.368000														25			22		0	0	0.002780	0	0
RACGAP1P	83956	broad.mit.edu	37	12	45458398	45458398	+	RNA	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:45458398C>T	uc001rol.3	-	0		c.797G>A								Homo sapiens Rac GTPase activating protein 1 pseudogene (RACGAP1P), non-coding RNA.																		TACCTGTTTTCCTTTGGCTCC	0.522000														14			11		0	0	0.013537	0	0
PLCB4	5332	broad.mit.edu	37	20	9353693	9353693	+	Splice_Site	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr20:9353693G>A	uc021wam.1	+	9	702	c.687_splice	c.e9-1	p.I229_splice	PLCB4_uc010gbw.1_Splice_Site_p.I229_splice|PLCB4_uc010gbx.3_Splice_Site_p.I229_splice|PLCB4_uc021wal.1_Splice_Site_p.I229_splice|PLCB4_uc002wnh.3_Splice_Site_p.I76_splice	NM_000933	NP_000924	Q15147	PLCB4_HUMAN	Homo sapiens phospholipase C, beta 4 (PLCB4), transcript variant 1, mRNA.	229					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						TTTCTTTTCAGCAATGGAGAC	0.289000														9			9		0	0	0.006214	0	0
R3HDML	140902	broad.mit.edu	37	20	42965979	42965979	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr20:42965979G>A	uc002xls.1	+	0	354	c.182G>A	c.(181-183)aGa>aAa	p.R61K		NM_178491	NP_848586	Q9H3Y0	CRSPL_HUMAN	Homo sapiens R3H domain containing-like (R3HDML), mRNA.	61						extracellular region	peptidase inhibitor activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)	21		Myeloproliferative disorder(115;0.028)	COAD - Colon adenocarcinoma(18;0.00189)			ATCTCTGTGAGAGACATGAAT	0.617000														26			21		0	0	0.014323	0	0
CSF2RA	1438	broad.mit.edu	37	X	1409240	1409240	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:1409240G>A	uc010nct.2	+	7	806	c.484G>A	c.(484-486)Gag>Aag	p.E162K	CRLF2_uc022brt.1_Intron|CSF2RA_uc011mhb.1_Missense_Mutation_p.E162K|CSF2RA_uc004cpq.2_Missense_Mutation_p.E162K|CSF2RA_uc004cpn.2_Missense_Mutation_p.E162K|CSF2RA_uc004cpo.2_Missense_Mutation_p.E162K|CSF2RA_uc010ncu.2_Non-coding_Transcript|CSF2RA_uc011mhc.1_Missense_Mutation_p.E29K|CSF2RA_uc004cpp.2_Missense_Mutation_p.E162K|CSF2RA_uc010ncv.2_Missense_Mutation_p.E162K|CSF2RA_uc004cpr.2_Missense_Mutation_p.E162K	NM_001161529	NP_001155004	P15509	CSF2R_HUMAN	Homo sapiens colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage) (CSF2RA), transcript variant 7, mRNA.	162						extracellular region|integral to plasma membrane	cytokine receptor activity	p.R161K(1)		central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		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)			Sargramostim(DB00020)	GAGAAGGAGGGAGATCCGGTG	0.388000														104			58		0	0	0.014410	0	0
KIF3C	3797	broad.mit.edu	37	2	26203482	26203482	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:26203482C>T	uc002rgu.2	-	0	1962	c.1305G>A	c.(1303-1305)gaG>gaA	p.E435E	KIF3C_uc010eyj.1_Non-coding_Transcript|KIF3C_uc010ykr.1_Silent_p.E435E	NM_002254	NP_002245	O14782	KIF3C_HUMAN	Homo sapiens kinesin family member 3C (KIF3C), mRNA.	435					blood coagulation|microtubule-based movement	cytosol|kinesin complex|microtubule	ATP binding|microtubule motor activity			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGTTGTCATCCTCCTCTTCTG	0.632000														43			37		0	0	0.008740	0	0
LRP2	4036	broad.mit.edu	37	2	170127566	170127566	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:170127566G>A	uc002ues.3	-	15	2381	c.2168C>T	c.(2167-2169)cCg>cTg	p.P723L	LRP2_uc010zdf.1_Intron	NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	723					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	SH3 domain binding|calcium ion binding|receptor activity			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)	CAAGGTGAACGGGATCCCACG	0.448000														28			26		0	0	0.004656	0	0
ITGB8	3696	broad.mit.edu	37	7	20441498	20441498	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:20441498G>A	uc003suu.3	+	9	2141	c.1436G>A	c.(1435-1437)gGa>gAa	p.G479E	ITGB8_uc011jyh.2_Missense_Mutation_p.G344E	NM_002214	NP_002205	P26012	ITB8_HUMAN	Homo sapiens integrin, beta 8 (ITGB8), mRNA.	479	Cysteine-rich tandem repeats.				cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						GGACCTAAAGGAAAGTGTGTA	0.358000														98			69		0	0	0.014410	0	0
MRGPRX1	259249	broad.mit.edu	37	11	18956018	18956018	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:18956018G>A	uc001mpg.3	-	0	532	c.314C>T	c.(313-315)tCc>tTc	p.S105F		NM_147199	NP_671732	Q96LB2	MRGX1_HUMAN	Homo sapiens MAS-related GPR, member X1 (MRGPRX1), mRNA.	105					acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TGCAAAGTAGGAAAACATCAT	0.547000														112			49		0	0	0.014410	0	0
ALDH7A1	501	broad.mit.edu	37	5	125887820	125887820	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:125887820G>A	uc003ktx.3	-	13	1402	c.1210C>T	c.(1210-1212)Cgc>Tgc	p.R404C	ALDH7A1_uc003ktv.3_Missense_Mutation_p.R25C|ALDH7A1_uc011cxa.2_Missense_Mutation_p.R367C	NM_001201377	NP_001188306	P49419	AL7A1_HUMAN	Homo sapiens aldehyde dehydrogenase 7 family, member A1 (ALDH7A1), transcript variant 1, mRNA.	404					cellular aldehyde metabolic process|lysine catabolic process|sensory perception of sound	cytosol|mitochondrial matrix|nucleus	L-aminoadipate-semialdehyde dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|betaine-aldehyde dehydrogenase activity			endometrium(1)|kidney(4)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	16		all_cancers(142;0.24)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934)	Epithelial(69;0.0417)|OV - Ovarian serous cystadenocarcinoma(64;0.068)|all cancers(49;0.109)	NADH(DB00157)|Pyridoxine(DB00165)	TTTCCAGGGCGATCCATAACC	0.398000														13			13		0	0	0.003163	0	0
ZDHHC2	51201	broad.mit.edu	37	8	17053075	17053075	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr8:17053075G>A	uc003wxe.3	+	3	712	c.315G>A	c.(313-315)caG>caA	p.Q105Q		NM_016353	NP_057437	Q9UIJ5	ZDHC2_HUMAN	Homo sapiens zinc finger, DHHC-type containing 2 (ZDHHC2), mRNA.	105						integral to membrane	acyltransferase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|pancreas(1)|stomach(1)	8				Colorectal(111;0.0697)|COAD - Colon adenocarcinoma(73;0.244)		AAGCCCATCAGGAAGTTCTTA	0.403000														29			27		0	0	0.005443	0	0
RAB3C	115827	broad.mit.edu	37	5	58120906	58120906	+	Missense_Mutation	SNP	T	G	G			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:58120906T>G	uc003jrp.3	+	3	510	c.413T>G	c.(412-414)gTt>gGt	p.V138G		NM_138453	NP_612462	Q96E17	RAB3C_HUMAN	Homo sapiens RAB3C, member RAS oncogene family (RAB3C), mRNA.	138					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)	21		all_cancers(5;9.93e-10)|all_epithelial(5;1.49e-10)|all_lung(5;8.97e-05)|Lung NSC(5;0.000139)|Prostate(74;0.0664)		OV - Ovarian serous cystadenocarcinoma(10;1.8e-34)		AATGCCCAAGTTATTCTGGTT	0.398000														22			30		0	0	0.010818	0	0
USH2A	7399	broad.mit.edu	37	1	215972453	215972453	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:215972453G>A	uc001hku.1	-	49	10141	c.9754C>T	c.(9754-9756)Cca>Tca	p.P3252S		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	3252					maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TGTTCATCTGGACAGCATACT	0.403000										HNSCC(13;0.011)				3			56		0	0	0.014410	0	0
UBASH3A	53347	broad.mit.edu	37	21	43833249	43833249	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr21:43833249C>T	uc002zbe.3	+	3	555	c.471C>T	c.(469-471)ctC>ctT	p.L157L	UBASH3A_uc002zbf.3_Silent_p.L157L|UBASH3A_uc010gpe.3_Silent_p.L157L|UBASH3A_uc010gpc.3_Non-coding_Transcript|UBASH3A_uc010gpd.3_Non-coding_Transcript	NM_018961	NP_061834	P57075	UBS3A_HUMAN	Homo sapiens ubiquitin associated and SH3 domain containing A (UBASH3A), transcript variant 1, mRNA.	157						cytosol|nucleus				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3)	28						TCAGCTACCTCGGCTTCTTCG	0.632000														39			38		0	0	0.006999	0	0
FAM5B	57795	broad.mit.edu	37	1	177249596	177249596	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:177249596G>A	uc001glf.3	+	7	1596	c.1284G>A	c.(1282-1284)ggG>ggA	p.G428G	FAM5B_uc001glg.3_Silent_p.G323G	NM_021165	NP_066988	Q9C0B6	FAM5B_HUMAN	Homo sapiens family with sequence similarity 5, member B (FAM5B), mRNA.	428						extracellular region				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						TCTACTGTGGGGAAAGCACCT	0.542000														3			118		0	0	0.014410	0	0
PREP	5550	broad.mit.edu	37	6	105733416	105733416	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr6:105733416G>A	uc003prc.3	-	11	1727	c.1494C>T	c.(1492-1494)atC>atT	p.I498I		NM_002726	NP_002717	P48147	PPCE_HUMAN	Homo sapiens prolyl endopeptidase (PREP), mRNA.	498					proteolysis		serine-type endopeptidase activity			breast(1)|endometrium(2)|large_intestine(7)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		all_cancers(87;0.000128)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0344)|Lung NSC(302;0.191)|Colorectal(196;0.202)			Oxytocin(DB00107)	CCACTGCCAGGATACCACCCA	0.453000														5			36		0	0	0.007835	0	0
OR8G2	26492	broad.mit.edu	37	11	124096207	124096207	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:124096207C>T	uc010saf.2	+	0	810	c.810C>T	c.(808-810)ttC>ttT	p.F270F		NM_001007249	NP_001007250	Q8N0Y1	Q8N0Y1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily G, member 2 (OR8G2), mRNA.	270						integral to membrane	olfactory receptor activity						Breast(109;0.0157)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.91e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		CTGCAGCATTCATGTACCTGC	0.517000														3			19		0	0	0.003330	0	0
PDE1A	5136	broad.mit.edu	37	2	183066172	183066172	+	Silent	SNP	G	A	A	rs149666537		TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:183066172G>A	uc002uos.3	-	10	1251	c.1167C>T	c.(1165-1167)ttC>ttT	p.F389F	PDE1A_uc010zfp.1_Silent_p.F285F|PDE1A_uc002uoq.1_Silent_p.F389F|PDE1A_uc010zfq.1_Silent_p.F389F|PDE1A_uc002uor.3_Silent_p.F373F|PDE1A_uc002uou.3_Silent_p.F355F	NM_001003683	NP_001003683	P54750	PDE1A_HUMAN	Homo sapiens phosphodiesterase 1A, calmodulin-dependent (PDE1A), transcript variant 2, mRNA.	389	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	p.F389F(2)		endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)			GCACCTGCAGGAAAAACTCCT	0.483000														68			58		0	0	0.014410	0	0
PREX2	80243	broad.mit.edu	37	8	69136846	69136846	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr8:69136846C>T	uc003xxv.1	+	38	4787	c.4760C>T	c.(4759-4761)cCa>cTa	p.P1587L		NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA.	1587					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity|protein binding			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						GACCGGACTCCACAGTCTGCA	0.493000														25			19		0	0	0.008871	0	0
CSF1R	1436	broad.mit.edu	37	5	149457753	149457753	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:149457753C>T	uc003lrl.3	-	3	846	c.651G>A	c.(649-651)ggG>ggA	p.G217G	CSF1R_uc011dcd.2_Silent_p.G69G|CSF1R_uc010jhc.3_Non-coding_Transcript|CSF1R_uc003lrm.3_Silent_p.G217G|CSF1R_uc011dce.1_Silent_p.G217G|CSF1R_uc011dcf.2_Silent_p.G217G	NM_005211	NP_005202	P07333	CSF1R_HUMAN	Homo sapiens colony stimulating factor 1 receptor (CSF1R), mRNA.	217	Ig-like C2-type 3.				cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	GGGCAGCCTCCCCTCGAATCC	0.592000														38			37		0	0	0.003755	0	0
SLX4	84464	broad.mit.edu	37	16	3639402	3639402	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr16:3639402G>A	uc002cvp.2	-	11	4864	c.4237C>T	c.(4237-4239)Ccc>Tcc	p.P1413S		NM_032444	NP_115820	Q8IY92	SLX4_HUMAN	Homo sapiens SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae) (SLX4), mRNA.	1413	Interaction with MUS81.|Interaction with PLK1 and TERF2-TERF2IP.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						TCCAGTGGGGGGCTTCTGTTG	0.607000								Direct reversal of damage						47			39		0	0	0.006999	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140236230	140236230	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:140236230G>A	uc003lhx.2	+	0	597	c.597G>A	c.(595-597)ctG>ctA	p.L199L	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Silent_p.L199L|PCDHAC2_uc011dad.2_Silent_p.L199L	NM_018901	NP_061724	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 10 (PCDHA10), transcript variant 1, mRNA.	215	Cadherin 2.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAAGCTGCTGGATCGTGAAG	0.398000														50			35		0	0	0.005524	0	0
MUSK	4593	broad.mit.edu	37	9	113563105	113563105	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr9:113563105G>A	uc022blv.1	+	14	2581	c.2447G>A	c.(2446-2448)cGa>cAa	p.R816Q	MUSK_uc022blt.1_3'UTR|MUSK_uc004bez.2_Missense_Mutation_p.R727Q|MUSK_uc022blu.1_Missense_Mutation_p.R717Q	NM_005592	NP_005583	O15146	MUSK_HUMAN	Homo sapiens muscle, skeletal, receptor tyrosine kinase (MUSK), transcript variant 1, mRNA.	816	Protein kinase.				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						TACTACGTGCGAGATGGCAAC	0.557000														3			13		0	0	0.004007	0	0
NME8	51314	broad.mit.edu	37	7	37901739	37901739	+	Missense_Mutation	SNP	G	A	A	rs151218163		TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:37901739G>A	uc003tfn.3	+	6	752	c.380G>A	c.(379-381)cGa>cAa	p.R127Q		NM_016616	NP_057700	Q8N427	TXND3_HUMAN	Homo sapiens thioredoxin domain containing 3 (spermatozoa) (TXNDC3), mRNA.	127					CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process|cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity	p.R127L(1)									GAAATGGCTCGACCTCAGGTA	0.363000														17			21		0	0	0.002780	0	0
SCN1A	6323	broad.mit.edu	37	2	166929996	166929996	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:166929996C>T	uc002udo.4	-	2	363	c.136G>A	c.(136-138)Gaa>Aaa	p.E46K	SCN1A_uc010fpk.3_Missense_Mutation_p.E46K|SCN1A_uc021vsb.1_Missense_Mutation_p.E46K	NM_001202435	NP_001189364	P35498	SCN1A_HUMAN	Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA.	46						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.D45D(1)		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)	GGGCCATTTTCGTCGTCATCT	0.448000														112			77		0	0	0.014410	0	0
ZBTB4	57659	broad.mit.edu	37	17	7365821	7365821	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr17:7365821G>A	uc002ghc.4	-	3	2730	c.2480C>T	c.(2479-2481)tCc>tTc	p.S827F	ZBTB4_uc002ghd.4_Missense_Mutation_p.S827F	NM_001128833	NP_065950	Q9P1Z0	ZBTB4_HUMAN	Homo sapiens zinc finger and BTB domain containing 4 (ZBTB4), transcript variant 2, mRNA.	827					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(3)|skin(6)	36		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642)		CTCACCGCTGGATGAGGAGAC	0.632000														12			9		0	0	0.006214	0	0
PTPRR	5801	broad.mit.edu	37	12	71095033	71095033	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:71095033G>A	uc001swi.2	-	6	1492	c.1078C>T	c.(1078-1080)Cca>Tca	p.P360S	PTPRR_uc001swh.2_Missense_Mutation_p.P115S|PTPRR_uc009zrs.3_Missense_Mutation_p.P154S|PTPRR_uc010stq.2_Missense_Mutation_p.P248S|PTPRR_uc010str.1_Missense_Mutation_p.P209S	NM_002849	NP_570897	Q15256	PTPRR_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, R (PTPRR), transcript variant 1, mRNA.	360					in utero embryonic development	Golgi apparatus|cell surface|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		CGTGGTGTTGGTATAGACACA	0.458000														51			34		0	0	0.004289	0	0
IRF8	3394	broad.mit.edu	37	16	85954808	85954808	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr16:85954808C>T	uc002fjh.3	+	8	1258	c.1201C>T	c.(1201-1203)Cag>Tag	p.Q401*		NM_002163	NP_002154	Q02556	IRF8_HUMAN	Homo sapiens interferon regulatory factor 8 (IRF8), mRNA.	401					interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	24		Prostate(104;0.0771)				GCCGCCAGACCAGGTCTTCCG	0.572000														28			30		0	0	0.007291	0	0
IPO11	51194	broad.mit.edu	37	5	61763082	61763082	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:61763082C>T	uc011cqr.2	+	5	891	c.761C>T	c.(760-762)tCa>tTa	p.S254L	IPO11_uc003jtc.3_Missense_Mutation_p.S214L	NM_001134779	NP_057422	Q9UI26	IPO11_HUMAN	Homo sapiens importin 11 (IPO11), transcript variant 1, mRNA.	214						cytoplasm|nucleus	protein binding			endometrium(2)|kidney(3)|large_intestine(5)|lung(14)|skin(4)|stomach(2)	30		Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077)		Lung(70;0.0613)		ACACTGCTATCATTGAAAGGT	0.403000														50			40		0	0	0.011902	0	0
ZNF17	7565	broad.mit.edu	37	19	57931662	57931662	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:57931662C>T	uc002qop.1	+	3	1074	c.808C>T	c.(808-810)Cac>Tac	p.H270Y	ZNF17_uc021vck.1_Missense_Mutation_p.H261Y|ZNF17_uc002qoo.1_Missense_Mutation_p.H268Y	NM_006959	NP_008890	P17021	ZNF17_HUMAN	Homo sapiens zinc finger protein 17 (ZNF17), mRNA.	268					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0234)|GBM - Glioblastoma multiforme(193;0.000426)|Lung(386;0.176)		CCAGAAAATTCACACTGGAGA	0.433000														34			22		0	0	0.014323	0	0
ZNF320	162967	broad.mit.edu	37	19	53385134	53385134	+	Missense_Mutation	SNP	A	G	G	rs138794752		TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:53385134A>G	uc002qag.3	-	3	436	c.245T>C	c.(244-246)aTt>aCt	p.I82T	ZNF320_uc010eqi.1_Intron|ZNF320_uc002qah.3_Missense_Mutation_p.I28T|ZNF320_uc002qai.3_Missense_Mutation_p.I82T	NM_207333	NP_997216	A2RRD8	ZN320_HUMAN	Homo sapiens zinc finger protein 320 (ZNF320), mRNA.	82					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(4)|large_intestine(5)|liver(1)|lung(10)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(134;0.0534)		AAATGCTCCAATGTGATAACT	0.413000														102			68		0	0	0.014410	0	0
ART3	419	broad.mit.edu	37	4	77003456	77003456	+	Missense_Mutation	SNP	T	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr4:77003456T>A	uc003hjo.3	+	2	683	c.549T>A	c.(547-549)ttT>ttA	p.F183L	ART3_uc003hji.3_Missense_Mutation_p.F183L|ART3_uc003hjj.3_Missense_Mutation_p.F183L|ART3_uc003hjk.3_Missense_Mutation_p.F183L|ART3_uc010ija.2_Missense_Mutation_p.F183L|ART3_uc003hjn.3_Missense_Mutation_p.F183L|ART3_uc003hjp.3_Intron|ART3_uc010ijb.3_Intron|ART3_uc003hjq.3_Intron|ART3_uc003hjr.3_Missense_Mutation_p.F153L|ART3_uc010ijc.3_Missense_Mutation_p.F153L|ART3_uc010ijd.3_Missense_Mutation_p.F153L	NM_001130016	NP_001123488	Q13508	NAR3_HUMAN	Homo sapiens ADP-ribosyltransferase 3 (ART3), transcript variant 1, mRNA.	183					protein ADP-ribosylation	anchored to membrane|integral to plasma membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|stomach(1)	16			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			TTGGCCATTTTACCTTGGCAT	0.433000														21			16		0	0	0.003163	0	0
SPAM1	6677	broad.mit.edu	37	7	123593796	123593796	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:123593796G>A	uc003vle.3	+	2	611	c.172G>A	c.(172-174)Gaa>Aaa	p.E58K	SPAM1_uc011koa.1_5'Flank|SPAM1_uc003vld.3_Missense_Mutation_p.E58K|SPAM1_uc022aks.1_Missense_Mutation_p.E58K|SPAM1_uc003vlf.4_Missense_Mutation_p.E58K|SPAM1_uc010lku.3_Missense_Mutation_p.E58K	NM_003117	NP_003108	P38567	HYALP_HUMAN	Homo sapiens sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding) (SPAM1), transcript variant 1, mRNA.	58					binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity			breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46					Hyaluronidase(DB00070)	TGCCCCAAGTGAATTTTGTCT	0.448000														25			29		0	0	0.009535	0	0
LILRB1	10859	broad.mit.edu	37	19	55146569	55146569	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:55146569G>A	uc002qgj.3	+	11	1838	c.1498G>A	c.(1498-1500)Gat>Aat	p.D500N	LILRB1_uc010erp.1_Missense_Mutation_p.D115N|LILRB1_uc002qgl.3_Missense_Mutation_p.D500N|LILRB1_uc002qgk.3_Missense_Mutation_p.D501N|LILRB1_uc002qgm.3_Missense_Mutation_p.D501N|LILRB1_uc010erq.3_Missense_Mutation_p.D484N|LILRB1_uc010err.3_Intron	NM_006669	NP_006660	Q8NHL6	LIRB1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 (LILRB1), transcript variant 1, mRNA.	500					regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		GAGAAAGGCTGATTTCCAACA	0.607000										HNSCC(37;0.09)				10			4		0	0	0.006214	0	0
RAB27B	5874	broad.mit.edu	37	18	52555255	52555255	+	Missense_Mutation	SNP	A	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr18:52555255A>T	uc002lfr.3	+	4	616	c.373A>T	c.(373-375)Aat>Tat	p.N125Y		NM_004163	NP_004154	O00194	RB27B_HUMAN	Homo sapiens RAB27B, member RAS oncogene family (RAB27B), mRNA.	125					protein transport|small GTPase mediated signal transduction	Golgi apparatus|plasma membrane	GTP binding|GTPase activity			large_intestine(3)|lung(3)|skin(1)	7				Colorectal(16;0.0273)|READ - Rectum adenocarcinoma(59;0.219)		TTATTGTGAAAATCCAGATAT	0.408000														58			62		0	0	0.014410	0	0
ADAM30	11085	broad.mit.edu	37	1	120437687	120437687	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:120437687G>A	uc001eij.3	-	0	1461	c.1273C>T	c.(1273-1275)Cgg>Tgg	p.R425W		NM_021794	NP_068566	Q9UKF2	ADA30_HUMAN	Homo sapiens ADAM metallopeptidase domain 30 (ADAM30), mRNA.	425	Disintegrin.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	p.R425Q(1)		NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		TGGCAACACCGATCTTTCTGA	0.448000														38			514		0	0	0.014410	0	0
PHF2P1	266695	broad.mit.edu	37	13	19622291	19622291	+	RNA	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr13:19622291G>A	uc001umb.1	-	9		c.3520C>T								Homo sapiens PHD finger protein 2 pseudogene 1 (PHF2P1), non-coding RNA.																		TCAAGCAGGCGACGATGGGGG	0.577000														16			15		0	0	0.002450	0	0
C8orf74	203076	broad.mit.edu	37	8	10557840	10557840	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr8:10557840G>A	uc003wtd.1	+	3	773	c.744G>A	c.(742-744)ttG>ttA	p.L248L	C8orf74_uc003wte.1_Non-coding_Transcript	NM_001040032	NP_001035121	Q6P047	CH074_HUMAN	Homo sapiens chromosome 8 open reading frame 74 (C8orf74), mRNA.	248										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	13				COAD - Colon adenocarcinoma(149;0.0811)		TCGCCATCTTGGACCTGAAGC	0.617000														39			38		0	0	0.005524	0	0
RNF10	9921	broad.mit.edu	37	12	121014413	121014413	+	Silent	SNP	A	C	C			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:121014413A>C	uc001typ.4	+	16	2863	c.2380A>C	c.(2380-2382)Aga>Cga	p.R794R	RNF10_uc010szk.2_Non-coding_Transcript|RNF10_uc001tyq.4_Silent_p.R705R	NM_014868	NP_055683	Q8N5U6	RNF10_HUMAN	Homo sapiens ring finger protein 10 (RNF10), mRNA.	794					negative regulation of Schwann cell proliferation|positive regulation of myelination|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|transcription regulatory region DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	27	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					aggaaagaaaagaaaaaaaca	0.448000														48			34		0	0	0.003271	0	0
PDE1C	5137	broad.mit.edu	37	7	31867938	31867938	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:31867938C>T	uc003tcm.2	-	11	1714	c.1253G>A	c.(1252-1254)cGa>cAa	p.R418Q	PDE1C_uc003tcn.1_Missense_Mutation_p.R418Q|PDE1C_uc003tco.2_Missense_Mutation_p.R478Q|PDE1C_uc003tcr.3_Missense_Mutation_p.R418Q|PDE1C_uc003tcs.3_Missense_Mutation_p.R418Q	NM_001191057	NP_001177988	Q14123	PDE1C_HUMAN	Homo sapiens phosphodiesterase 1C, calmodulin-dependent 70kDa (PDE1C), transcript variant 2, mRNA.	418	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			AGTGGACTTTCGGTCACACAG	0.468000														19			41		0	0	0.011902	0	0
TNXB	7148	broad.mit.edu	37	6	32015758	32015758	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr6:32015758C>T	uc003nzl.2	-	29	10273	c.10071G>A	c.(10069-10071)ggG>ggA	p.G3357G	TNXB_uc003nzg.1_5'Flank|TNXB_uc003nzh.1_5'Flank	NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	3404	Fibronectin type-III 25.				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						CAGTCAGCTCCCCCAGGCGGG	0.622000														284			119		0	0	0.014410	0	0
MYBPC3	4607	broad.mit.edu	37	11	47364144	47364144	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:47364144C>T	uc021qis.1	-	16	1664	c.1609G>A	c.(1609-1611)Gag>Aag	p.E537K	MYBPC3_uc021qir.1_Missense_Mutation_p.E189K|MYBPC3_uc010rhl.2_Non-coding_Transcript	NM_000256	NP_000247	Q14896	MYPC3_HUMAN	Homo sapiens myosin binding protein C, cardiac (MYBPC3), mRNA.	536	Ig-like C2-type 3.				cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	C zone|cytosol|striated muscle myosin thick filament	ATPase activator activity|actin binding|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42				Lung(87;0.176)		ACAATGAGCTCAGCCAGCGCC	0.652000														5			12		0	0	0.010729	0	0
CSMD2	114784	broad.mit.edu	37	1	34209078	34209078	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:34209078G>A	uc001bxm.1	-	13	2153	c.1976C>T	c.(1975-1977)gCc>gTc	p.A659V	CSMD2_uc001bxn.1_Missense_Mutation_p.A619V	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	619	CUB 4.					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)				GTCGTTGAAGGCCAGGTGGAT	0.602000														6			67		0	0	0.014410	0	0
MBD3L1	85509	broad.mit.edu	37	19	8953751	8953751	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:8953751C>T	uc002mko.2	+	0	483	c.397C>T	c.(397-399)Cct>Tct	p.P133S		NM_145208	NP_660209	Q8WWY6	MB3L1_HUMAN	Homo sapiens methyl-CpG binding domain protein 3-like 1 (MBD3L1), mRNA.	133					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|cervix(1)|large_intestine(5)|liver(1)|lung(2)|skin(2)	12						GGAGATAATTCCTGCAGAGGG	0.522000														11			17		0	0	0.006122	0	0
OR51F2	119694	broad.mit.edu	37	11	4843076	4843076	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:4843076G>A	uc010qyn.2	+	0	461	c.461G>A	c.(460-462)cGa>cAa	p.R154Q		NM_001004753	NP_001004753	Q8NH61	O51F2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily F, member 2 (OR51F2), mRNA.	154					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		ACCAATGCCCGAATTGCCAAG	0.463000														109			84		0	0	0.014410	0	0
SGCZ	137868	broad.mit.edu	37	8	13948015	13948015	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr8:13948015G>A	uc003wwq.3	-	7	1536	c.876C>T	c.(874-876)taC>taT	p.Y292Y	SGCZ_uc010lss.3_Silent_p.Y245Y	NM_139167	NP_631906	Q96LD1	SGCZ_HUMAN	Homo sapiens sarcoglycan, zeta (SGCZ), mRNA.	279					cytoskeleton organization	cytoplasm|cytoskeleton|integral to membrane|sarcolemma				NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	47				all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)		CTGGAGAAAGGTAAAGTTTGC	0.488000														67			40		0	0	0.006230	0	0
DRD1	1812	broad.mit.edu	37	5	174869875	174869875	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:174869875C>T	uc003mcz.3	-	1	1173	c.228G>A	c.(226-228)ctG>ctA	p.L76L	DRD1_uc021yia.1_Silent_p.L76L	NM_000794	NP_000785	P21728	DRD1_HUMAN	Homo sapiens dopamine receptor D1 (DRD1), mRNA.	76					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|adult walking behavior|cerebral cortex GABAergic interneuron migration|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|mating behavior|positive regulation of cAMP biosynthetic process|positive regulation of cell migration|positive regulation of potassium ion transport|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of synaptic transmission, glutamatergic|prepulse inhibition|response to drug|synapse assembly|visual learning	endoplasmic reticulum membrane|membrane fraction	protein binding	p.L76M(1)|p.V75I(1)|p.V75V(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Carphenazine(DB01038)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Cocaine(DB00907)|Dopamine(DB00988)|Fenoldopam(DB00800)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methylergonovine(DB00353)|Minaprine(DB00805)|Olanzapine(DB00334)|Pegademase bovine(DB00061)|Pergolide(DB01186)|Perphenazine(DB00850)|Prochlorperazine(DB00433)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Triflupromazine(DB00508)|Zuclopenthixol(DB01624)	AGGGCATGACCAGGACGGCCA	0.552000														19			15		0	0	0.002450	0	0
WDR44	54521	broad.mit.edu	37	X	117529212	117529212	+	Splice_Site	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:117529212G>A	uc004eqn.3	+	6	1389	c.958_splice	c.e6-1	p.E320_splice	WDR44_uc004eqo.3_Splice_Site_p.E320_splice|WDR44_uc011mtr.2_Splice_Site_p.E295_splice|WDR44_uc010nqi.3_Splice_Site_p.E30_splice	NM_019045	NP_061918	Q5JSH3	WDR44_HUMAN	Homo sapiens WD repeat domain 44 (WDR44), transcript variant 1, mRNA.	320						Golgi apparatus|cytosol|endosome membrane|perinuclear region of cytoplasm				breast(4)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	33						ATATTTCCAGGAAAATGGAAA	0.348000														27			18		0	0	0.008871	0	0
SERPINA3	12	broad.mit.edu	37	14	95080886	95080886	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr14:95080886G>A	uc001ydp.3	+	1	267	c.108G>A	c.(106-108)caG>caA	p.Q36Q	SERPINA3_uc001ydo.4_Silent_p.Q61Q|SERPINA3_uc010avf.1_Non-coding_Transcript|SERPINA3_uc001ydr.3_Non-coding_Transcript|SERPINA3_uc021sbb.1_Non-coding_Transcript|SERPINA3_uc010avg.3_Silent_p.Q36Q|SERPINA3_uc001yds.3_Silent_p.Q36Q	NM_001085	NP_001076	P01011	AACT_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3 (SERPINA3), mRNA.	36					acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis	extracellular region|nucleus	DNA binding|protein binding|serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1)	40		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		ATCTGACCCAGGAGAACCAAG	0.592000														62			32		0	0	0.008740	0	0
TRBV4-2	28616	broad.mit.edu	37	7	142045721	142045721	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:142045721C>T	uc003vxp.4	+	1	358	c.249C>T	c.(247-249)ttC>ttT	p.F83F	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|TRBV4-2_uc022anc.1_5'Flank					SubName: Full=V_segment translation product; Flags: Fragment;																		CAAGTCGCTTCTCACCTGAAT	0.483000														172			145		0	0	0.014410	0	0
DEFA5	1670	broad.mit.edu	37	8	6914077	6914077	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr8:6914077C>T	uc003wra.1	-	0	183	c.143G>A	c.(142-144)gGa>gAa	p.G48E		NM_021010	NP_066290	Q01523	DEF5_HUMAN	Homo sapiens defensin, alpha 5, Paneth cell-specific (DEFA5), mRNA.	48					defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular space				NS(1)|lung(4)|skin(1)|stomach(1)	7				COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121)		GAGTCCATTTCCTGCAAAGGA	0.488000														58			56		0	0	0.014410	0	0
RPTOR	57521	broad.mit.edu	37	17	78811795	78811795	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr17:78811795C>T	uc002jyt.1	+	9	2015	c.1210C>T	c.(1210-1212)Cgg>Tgg	p.R404W	RPTOR_uc010wuf.1_Missense_Mutation_p.R219W|RPTOR_uc010wug.1_Missense_Mutation_p.R404W	NM_020761	NP_065812	Q8N122	RPTOR_HUMAN	Homo sapiens regulatory associated protein of MTOR, complex 1 (RPTOR), transcript variant 1, mRNA.	404					TOR signaling cascade|cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of TOR signaling cascade|positive regulation of protein serine/threonine kinase activity	TORC1 complex|cytosol|lysosome	protein complex binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						CACTGCGTTTCGGGTGAGTCC	0.627000														7			5		0	0	0.001984	0	0
RDX	5962	broad.mit.edu	37	11	110134900	110134900	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:110134900G>A	uc009yxy.3	-	4	562	c.252C>T	c.(250-252)ttC>ttT	p.F84F	RDX_uc009yxx.1_Non-coding_Transcript|RDX_uc009yxz.3_Intron|RDX_uc009yya.3_Silent_p.F52F|RDX_uc001pku.3_Silent_p.F84F|RDX_uc010rwe.2_Intron	NM_002906	NP_002897	P35241	RADI_HUMAN	Homo sapiens radixin (RDX), mRNA.	84	FERM.				actin filament capping	Golgi apparatus|cleavage furrow|cytoskeleton|extrinsic to membrane|nucleolus|plasma membrane	actin binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	18		all_cancers(61;7.18e-13)|all_epithelial(67;2.61e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.13e-06)|BRCA - Breast invasive adenocarcinoma(274;9.75e-06)|all cancers(92;5.9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0248)		CTTCAGGAAAGAATTTAGCTC	0.313000														1			24		0	0	0.002780	0	0
CCDC92	80212	broad.mit.edu	37	12	124422086	124422086	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:124422086G>A	uc001ufw.1	-	4	662	c.515C>T	c.(514-516)tCc>tTc	p.S172F	CCDC92_uc001ufv.1_Missense_Mutation_p.S155F|CCDC92_uc001ufx.1_Missense_Mutation_p.S172F	NM_025140	NP_079416	Q53HC0	CCD92_HUMAN	Homo sapiens coiled-coil domain containing 92 (CCDC92), mRNA.	172										large_intestine(5)|lung(2)	7	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;0.0002)|OV - Ovarian serous cystadenocarcinoma(86;0.000222)|all cancers(50;0.00129)|BRCA - Breast invasive adenocarcinoma(302;0.242)		GGTCCCGCTGGAGCTCATGAG	0.667000														24			15		0	0	0.002450	0	0
PPAPDC2	403313	broad.mit.edu	37	9	4663160	4663160	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr9:4663160C>T	uc003zin.3	+	0	863	c.785C>T	c.(784-786)gCt>gTt	p.A262V	SPATA6L_uc003zik.3_Intron|SPATA6L_uc003zil.3_Intron|SPATA6L_uc011lly.2_Intron|SPATA6L_uc011llz.2_Intron|SPATA6L_uc003zim.3_Intron	NM_203453	NP_982278	Q8IY26	PPAC2_HUMAN	Homo sapiens phosphatidic acid phosphatase type 2 domain containing 2 (PPAPDC2), mRNA.	262						integral to membrane	hydrolase activity			endometrium(1)|large_intestine(2)|lung(1)	4	all_hematologic(13;0.137)	Breast(48;0.238)		GBM - Glioblastoma multiforme(50;0.026)		ACCGACGTAGCTTTTGGCTTT	0.552000														42			35		0	0	0.003271	0	0
HAPLN1	1404	broad.mit.edu	37	5	82940367	82940367	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:82940367G>A	uc003kim.3	-	2	661	c.590C>T	c.(589-591)gCc>gTc	p.A197V	HAPLN1_uc003kin.3_Missense_Mutation_p.A197V	NM_001884	NP_001875	P10915	HPLN1_HUMAN	Homo sapiens hyaluronan and proteoglycan link protein 1 (HAPLN1), mRNA.	197	Link 1.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding	p.A197D(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1)	34		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)		GCCCCGCCAGGCGTCGTACAG	0.612000														24			17		0	0	0.006122	0	0
SPOCK3	50859	broad.mit.edu	37	4	167675767	167675767	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr4:167675767G>A	uc011cjq.1	-	6	916	c.859C>T	c.(859-861)Ctt>Ttt	p.L287F	SPOCK3_uc021xuf.1_Missense_Mutation_p.L278F|SPOCK3_uc011cjr.1_Missense_Mutation_p.L158F|SPOCK3_uc003iri.1_Missense_Mutation_p.L278F|SPOCK3_uc011cjs.1_Missense_Mutation_p.L227F|SPOCK3_uc003irj.1_Missense_Mutation_p.L275F|SPOCK3_uc011cjt.1_Missense_Mutation_p.L186F|SPOCK3_uc011cjp.2_Missense_Mutation_p.L235F|SPOCK3_uc011cju.1_Missense_Mutation_p.L182F|SPOCK3_uc011cjv.1_Missense_Mutation_p.L180F|SPOCK3_uc003irk.4_Missense_Mutation_p.L275F	NM_001204353	NP_001191282	Q9BQ16	TICN3_HUMAN	Homo sapiens sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3 (SPOCK3), transcript variant 4, mRNA.	278					signal transduction	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase inhibitor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)		GBM - Glioblastoma multiforme(119;0.02)		TTCTTATCAAGGTAAATGCTT	0.403000														39			36		0	0	0.004289	0	0
ASAH2	56624	broad.mit.edu	37	10	52005019	52005019	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr10:52005019C>T	uc001jjd.3	-	1	323	c.323G>A	c.(322-324)cGa>cAa	p.R108Q	ASAH2_uc009xos.3_Missense_Mutation_p.R108Q	NM_019893	NP_063946	Q9NR71	ASAH2_HUMAN	Homo sapiens N-acylsphingosine amidohydrolase (non-lysosomal ceramidase) 2 (ASAH2), transcript variant 1, mRNA.	108					apoptosis|ceramide metabolic process|signal transduction	integral to membrane|mitochondrion|plasma membrane	ceramidase activity			large_intestine(1)|lung(9)|urinary_tract(1)	11						GCAGTCAGCTCGTCCAACACC	0.448000														134			116		0	0	0.014410	0	0
LDHC	3948	broad.mit.edu	37	11	18456337	18456337	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:18456337C>T	uc001mon.4	+	4	581	c.469C>T	c.(469-471)Cgt>Tgt	p.R157C	LDHC_uc001mom.4_Missense_Mutation_p.R157C|LDHC_uc009yhp.3_Missense_Mutation_p.R157C|LDHC_uc001moo.4_Missense_Mutation_p.R41C|LDHC_uc009yhq.3_Non-coding_Transcript|LDHC_uc009yhr.3_Missense_Mutation_p.R41C	NM_017448	NP_059144	P07864	LDHC_HUMAN	Homo sapiens lactate dehydrogenase C (LDHC), transcript variant 2, mRNA.	157					glycolysis	cytoplasm	L-lactate dehydrogenase activity|binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24					NADH(DB00157)	ACCTGTAACTCGTGTAATTGG	0.368000														82			63		0	0	0.014410	0	0
KCTD5	54442	broad.mit.edu	37	16	2732687	2732687	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr16:2732687C>T	uc002crd.3	+	0	193	c.138C>T	c.(136-138)gtC>gtT	p.V46V		NM_018992	NP_061865	Q9NXV2	KCTD5_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 5 (KCTD5), mRNA.	46	BTB.				interspecies interaction between organisms	cytosol|nucleus|voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			haematopoietic_and_lymphoid_tissue(1)|lung(1)	2						CCAAGTGGGTCCGACTCAACG	0.726000														16			15		0	0	0.004007	0	0
TAF1L	138474	broad.mit.edu	37	9	32632418	32632418	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr9:32632418C>T	uc003zrg.1	-	0	3250	c.3160G>A	c.(3160-3162)Gaa>Aaa	p.E1054K	AX747113_uc003zrh.1_5'Flank	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like (TAF1L), mRNA.	1054					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|TBP-class protein binding|histone acetyltransferase activity|protein serine/threonine kinase activity			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		TGAGCCTGTTCTGTTGACATT	0.473000														106			96		0	0	0.014410	0	0
TTN	7273	broad.mit.edu	37	2	179459340	179459340	+	Missense_Mutation	SNP	T	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:179459340T>A	uc021vsy.1	-	244	50402	c.50177A>T	c.(50176-50178)aAa>aTa	p.K16726I	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.K10421I|TTN_uc021vta.1_Missense_Mutation_p.K10354I|TTN_uc021vtb.1_Missense_Mutation_p.K10229I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	17653	Fibronectin type-III 21.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.A16726A(1)|p.A16726V(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGTAACTTCTTTGACTTCCAG	0.378000														56			45		0	0	0.014410	0	0
PLCB3	5331	broad.mit.edu	37	11	64026159	64026159	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:64026159C>T	uc009ypi.3	+	10	1354	c.1227C>T	c.(1225-1227)atC>atT	p.I409I	PLCB3_uc009ypg.2_Silent_p.I409I|PLCB3_uc009yph.2_Silent_p.I342I	NM_000932	NP_000923	Q01970	PLCB3_HUMAN	Homo sapiens phospholipase C, beta 3 (phosphatidylinositol-specific) (PLCB3), transcript variant 1, mRNA.	409	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						ACCCCGTCATCCTCTCCTTCG	0.597000														42			26		0	0	0.009535	0	0
CYP2A13	1553	broad.mit.edu	37	19	41594891	41594891	+	Missense_Mutation	SNP	G	A	A	rs147576381	by1000genomes	TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:41594891G>A	uc002opt.3	+	1	247	c.238G>A	c.(238-240)Gtg>Atg	p.V80M		NM_000766	NP_000757	Q16696	CP2AD_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily A, polypeptide 13 (CYP2A13), mRNA.	80					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding			breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42					Clomipramine(DB01242)|Nicotine(DB00184)	GCGGGTCGTGGTGCTGTGCGG	0.637000														32			31		0	0	0.009718	0	0
EML2	24139	broad.mit.edu	37	19	46116831	46116831	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:46116831G>A	uc010xxm.2	-	20	2468	c.2395C>T	c.(2395-2397)Cac>Tac	p.H799Y	EML2_uc002pcn.3_Missense_Mutation_p.H598Y|EML2_uc002pcp.3_Missense_Mutation_p.H482Y|EML2_uc002pco.3_Non-coding_Transcript|EML2_uc010xxl.2_Missense_Mutation_p.H745Y	NM_001193268	NP_001180197	O95834	EMAL2_HUMAN	Homo sapiens echinoderm microtubule associated protein like 2 (EML2), transcript variant 1, mRNA.	598					sensory perception of sound|visual perception	cytoplasm|intracellular membrane-bounded organelle|microtubule|microtubule associated complex	catalytic activity|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|urinary_tract(1)	31		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)		CTAAACAGGTGAACTTTGCCA	0.582000														34			29		0	0	0.010818	0	0
CSMD2	114784	broad.mit.edu	37	1	33985159	33985159	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:33985159C>T	uc001bxm.1	-	69	11032	c.10855G>A	c.(10855-10857)Gag>Aag	p.E3619K	CSMD2_uc001bxn.1_Missense_Mutation_p.E3475K	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	3475						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)				AACTCCGCCTCGCTGGCCATG	0.612000														8			177		0	0	0.014410	0	0
STRN	6801	broad.mit.edu	37	2	37111159	37111159	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:37111159G>A	uc002rpn.3	-	8	1111	c.1102C>T	c.(1102-1104)Cct>Tct	p.P368S	STRN_uc010ezx.3_Missense_Mutation_p.P331S	NM_003162	NP_003153	O43815	STRN_HUMAN	Homo sapiens striatin, calmodulin binding protein (STRN), mRNA.	368					Wnt receptor signaling pathway|dendrite development|locomotory behavior|negative regulation of cell proliferation|tight junction assembly	cytoplasm|dendritic spine|neuronal cell body|postsynaptic density|postsynaptic membrane|tight junction	armadillo repeat domain binding|calmodulin binding|estrogen receptor binding|protein complex binding|protein phosphatase 2A binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33		Ovarian(717;0.0129)|all_hematologic(82;0.21)				TGCAATGAAGGAAGTTCATCA	0.433000														34			19		0	0	0.008871	0	0
KLKB1	3818	broad.mit.edu	37	4	187158058	187158058	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr4:187158058C>T	uc003iyy.3	+	4	523	c.452C>T	c.(451-453)tCa>tTa	p.S151L	KLKB1_uc011clc.2_5'UTR|KLKB1_uc011cld.2_Missense_Mutation_p.S113L	NM_000892	NP_000883	P03952	KLKB1_HUMAN	Homo sapiens kallikrein B, plasma (Fletcher factor) 1 (KLKB1), mRNA.	151	Apple 2.				Factor XII activation|blood coagulation, intrinsic pathway|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis	cytoplasm|extracellular space|plasma membrane	serine-type endopeptidase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		CAGTTTTTTTCATATGCCACG	0.413000														32			25		0	0	0.005443	0	0
ACSM4	341392	broad.mit.edu	37	12	7469768	7469768	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:7469768G>A	uc001qsx.1	+	3	656	c.656G>A	c.(655-657)gGa>gAa	p.G219E		NM_001080454	NP_001073923	P0C7M7	ACSM4_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 4 (ACSM4), mRNA.	219					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			endometrium(6)|kidney(1)|lung(14)	21						GTGGAAACAGGAAGTCAAGAA	0.502000														14			8		0	0	0.004482	0	0
SEMA3E	9723	broad.mit.edu	37	7	82997178	82997178	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:82997178C>T	uc003uhy.2	-	16	2673	c.2052G>A	c.(2050-2052)aaG>aaA	p.K684K	SEMA3E_uc022agy.1_Silent_p.K624K	NM_012431	NP_001171600	O15041	SEM3E_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E (SEMA3E), transcript variant 1, mRNA.	684					axon guidance	extracellular space|membrane	receptor activity			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				CCTCATCGTCCTTGTTAAACA	0.483000														38			68		0	0	0.014410	0	0
TEX261	113419	broad.mit.edu	37	2	71216111	71216111	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:71216111G>A	uc002shn.3	-	4	523	c.409C>T	c.(409-411)Ccg>Tcg	p.P137S	TEX261_uc010fdy.3_Missense_Mutation_p.P90S	NM_144582	NP_653183	Q6UWH6	TX261_HUMAN	Homo sapiens testis expressed 261 (TEX261), mRNA.	137						integral to membrane				NS(1)|breast(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	8						AACGCAAACGGAATTATCCAC	0.577000														14			10		0	0	0.013537	0	0
CEACAM16	388551	broad.mit.edu	37	19	45207314	45207314	+	Missense_Mutation	SNP	G	C	C			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:45207314G>C	uc010xxd.2	+	3	615	c.409G>C	c.(409-411)Gcc>Ccc	p.A137P		NM_001039213	NP_001034302	A7LI12	A7LI12_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 16 (CEACAM16), mRNA.	137										endometrium(3)|large_intestine(2)|lung(3)|ovary(1)	9	Lung NSC(12;0.000698)|all_lung(12;0.002)	Prostate(69;0.0376)|Ovarian(192;0.231)				CACAGTCTTGGCCAACAGCAC	0.667000														17			22		0	0	0.003954	0	0
ACSM4	341392	broad.mit.edu	37	12	7475888	7475888	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:7475888G>A	uc001qsx.1	+	7	1184	c.1184G>A	c.(1183-1185)gGa>gAa	p.G395E		NM_001080454	NP_001073923	P0C7M7	ACSM4_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 4 (ACSM4), mRNA.	395					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			endometrium(6)|kidney(1)|lung(14)	21						ATGGGGAAAGGAATGCTGCCC	0.383000														13			8		0	0	0.004482	0	0
UTP20	27340	broad.mit.edu	37	12	101750436	101750436	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:101750436C>T	uc001tia.1	+	41	5655	c.5499C>T	c.(5497-5499)tcC>tcT	p.S1833S		NM_014503	NP_055318	O75691	UTP20_HUMAN	Homo sapiens UTP20, small subunit (SSU) processome component, homolog (yeast) (UTP20), mRNA.	1833					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						TAATGCAGTCCCTTCCACAAG	0.363000														22			15		0	0	0.006122	0	0
ZC3H6	376940	broad.mit.edu	37	2	113089707	113089707	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:113089707C>T	uc002thq.1	+	11	3606	c.3212C>T	c.(3211-3213)tCa>tTa	p.S1071L		NM_198581	NP_940983	P61129	ZC3H6_HUMAN	Homo sapiens zinc finger CCCH-type containing 6 (ZC3H6), mRNA.	1071							nucleic acid binding|zinc ion binding	p.S1071L(2)		central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2)	35						GGAGAAAACTCAAAGAACCAG	0.433000														16			9		0	0	0.006214	0	0
POTEE	445582	broad.mit.edu	37	2	131976230	131976230	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:131976230C>T	uc002tsn.2	+	0	307	c.255C>T	c.(253-255)gaC>gaT	p.D85D	PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_5'UTR|POTEE_uc002tsl.2_5'UTR	NM_001083538	NP_001077007	Q6S8J3	POTEE_HUMAN	Homo sapiens POTE ankyrin domain family, member E (POTEE), mRNA.	85							ATP binding										CTTCTGGAGACCACGACGACT	0.607000														57			39		0	0	0.014410	0	0
TAS2R41	259287	broad.mit.edu	37	7	143175075	143175075	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:143175075G>A	uc003wdc.1	+	0	110	c.110G>A	c.(109-111)cGa>cAa	p.R37Q	LOC285965_uc003wda.3_Intron	NM_176883	NP_795364	P59536	T2R41_HUMAN	Homo sapiens taste receptor, type 2, member 41 (TAS2R41), mRNA.	37					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1)	18	Melanoma(164;0.15)					GAGTGGCTGCGATATGGCAGG	0.557000														65			22		0	0	0.010818	0	0
ITIH5	80760	broad.mit.edu	37	10	7618605	7618605	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr10:7618605C>T	uc021pmv.1	-	9	1895	c.1789G>A	c.(1789-1791)Gag>Aag	p.E597K	ITIH5_uc021pmu.1_Missense_Mutation_p.E383K|ITIH5_uc001ijr.2_Missense_Mutation_p.E597K	NM_030569	NP_085046	Q86UX2	ITIH5_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain family, member 5 (ITIH5), transcript variant 1, mRNA.	597					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	p.E597E(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						CGCTCCTTCTCCGGTTCATCG	0.637000														25			13		0	0	0.014323	0	0
KCNH2	3757	broad.mit.edu	37	7	150649632	150649632	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:150649632C>T	uc003wic.3	-	5	1839	c.1438G>A	c.(1438-1440)Gag>Aag	p.E480K	KCNH2_uc003wib.3_Missense_Mutation_p.E140K|KCNH2_uc011kux.2_Missense_Mutation_p.E384K|KCNH2_uc003wid.3_Missense_Mutation_p.E140K|KCNH2_uc003wie.3_Missense_Mutation_p.E480K	NM_000238	NP_000229	Q12809	KCNH2_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 2 (KCNH2), transcript variant 1, mRNA.	480					blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity	p.E480E(1)		NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)	ACCACCTCCTCGTTGGCATTG	0.597000														34			81		0	0	0.014410	0	0
PTH2R	5746	broad.mit.edu	37	2	209302345	209302345	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:209302345C>T	uc010zjb.2	+	2	581	c.295C>T	c.(295-297)Cct>Tct	p.P99S	PTH2R_uc002vdb.3_Missense_Mutation_p.P88S	NM_005048	NP_005039	P49190	PTH2R_HUMAN	Homo sapiens parathyroid hormone 2 receptor (PTH2R), mRNA.	88						integral to plasma membrane	parathyroid hormone receptor activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)		TCCATGCCCTCCTTATATTTA	0.323000														25			18		0	0	0.010504	0	0
F13B	2165	broad.mit.edu	37	1	197026252	197026252	+	Silent	SNP	A	G	G			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:197026252A>G	uc001gtt.1	-	6	1106	c.1062T>C	c.(1060-1062)taT>taC	p.Y354Y		NM_001994	NP_001985	P05160	F13B_HUMAN	Homo sapiens coagulation factor XIII, B polypeptide (F13B), mRNA.	354	Sushi 6.				blood coagulation	extracellular region				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						CCCCATTGTAATAAATCTTAG	0.413000														3			103		0	0	0.014410	0	0
BRAF	673	broad.mit.edu	37	7	140453193	140453193	+	Splice_Site	SNP	T	C	C	rs121913370		TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:140453193T>C	uc003vwc.4	-	15	1803	c.1742_splice	c.e15-1	p.N581_splice		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	581	Protein kinase.		N -> D (in CFC syndrome).|N -> S (in a colorectal adenocarcinoma sample; somatic mutation).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.N581S(9)|p.N581I(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	AAGAAATATATCTGAGGTGTA	0.358000		61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome					33			39		0	0	0.009718	0	0
NALCN	259232	broad.mit.edu	37	13	101721152	101721152	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr13:101721152C>T	uc001vox.1	-	37	4414	c.4225G>A	c.(4225-4227)Gaa>Aaa	p.E1409K		NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	Homo sapiens sodium leak channel, non-selective (NALCN), mRNA.	1409						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TATGTAAATTCATCTGGAGTA	0.398000														19			15		0	0	0.004007	0	0
FAM55C	91775	broad.mit.edu	37	3	101540558	101540558	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:101540558C>T	uc003dvn.3	+	7	2077	c.1440C>T	c.(1438-1440)gtC>gtT	p.V480V	FAM55C_uc010hpn.3_Silent_p.V480V	NM_145037	NP_659474	Q969Y0	FA55C_HUMAN	Homo sapiens family with sequence similarity 55, member C (FAM55C), transcript variant 2, mRNA.	480						extracellular region				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	32						CCGTGGTGGTCATCCGGACGG	0.572000														56			40		0	0	0.008740	0	0
EML1	2009	broad.mit.edu	37	14	100364580	100364580	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr14:100364580C>T	uc001ygr.3	+	8	964	c.895C>T	c.(895-897)Cat>Tat	p.H299Y	EML1_uc010avt.1_Missense_Mutation_p.H267Y|EML1_uc010tww.2_Missense_Mutation_p.H268Y|EML1_uc001ygq.3_Missense_Mutation_p.H299Y|EML1_uc001ygs.3_Missense_Mutation_p.H280Y	NM_001008707	NP_001008707	O00423	EMAL1_HUMAN	Homo sapiens echinoderm microtubule associated protein like 1 (EML1), transcript variant 1, mRNA.	280						cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Melanoma(154;0.0879)|all_epithelial(191;0.216)				CCTAGCAGTTCATCCTGATCG	0.363000														12			8		0	0	0.008291	0	0
SLC22A7	10864	broad.mit.edu	37	6	43267729	43267729	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr6:43267729G>A	uc021yzt.1	+	4	851	c.752G>A	c.(751-753)gGg>gAg	p.G251E	SLC22A7_uc010jyl.1_Missense_Mutation_p.G252E|SLC22A7_uc003ous.3_Missense_Mutation_p.G249E|SLC22A7_uc003out.3_Missense_Mutation_p.G249E	NM_153320	NP_696961	Q9Y694	S22A7_HUMAN	Homo sapiens solute carrier family 22 (organic anion transporter), member 7 (SLC22A7), transcript variant 2, mRNA.	251						basolateral plasma membrane|integral to plasma membrane|membrane fraction	anion:anion antiporter activity|sodium-independent organic anion transmembrane transporter activity			NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3)	26			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)			GCACTGGTTGGGTACCTGATA	0.647000														90			35		0	0	0.005524	0	0
NCOA5	57727	broad.mit.edu	37	20	44692190	44692190	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr20:44692190G>A	uc002xrd.3	-	5	1487	c.959C>T	c.(958-960)gCc>gTc	p.A320V	NCOA5_uc002xrc.3_Missense_Mutation_p.A208V|NCOA5_uc002xre.3_Missense_Mutation_p.A320V	NM_020967	NP_066018	Q9HCD5	NCOA5_HUMAN	Homo sapiens nuclear receptor coactivator 5 (NCOA5), mRNA.	320					regulation of transcription, DNA-dependent|transcription, DNA-dependent|translation	nucleus	ATP binding|aminoacyl-tRNA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				CTGCAGGATGGCTTCATCGGC	0.582000														15			21		0	0	0.014323	0	0
NLRP4	147945	broad.mit.edu	37	19	56363466	56363466	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:56363466C>T	uc002qmd.4	+	1	442	c.20C>T	c.(19-21)tCt>tTt	p.S7F		NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	Homo sapiens NLR family, pyrin domain containing 4 (NLRP4), mRNA.	7	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)		TCTTTCTTCTCTGATTTTGGT	0.393000														83			55		0	0	0.014410	0	0
FASN	2194	broad.mit.edu	37	17	80041436	80041436	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr17:80041436G>A	uc002kdu.3	-	30	5415	c.5298C>T	c.(5296-5298)ttC>ttT	p.F1766F	FASN_uc002kdv.1_5'Flank	NM_004104	NP_004095	P49327	FAS_HUMAN	Homo sapiens fatty acid synthase (FASN), mRNA.	1766	Enoyl reductase (By similarity).				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	Golgi apparatus|cytosol|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	CAATTTCCAGGAAGCGACCGT	0.642000														14			11		0	0	0.010729	0	0
ST8SIA4	7903	broad.mit.edu	37	5	100231438	100231438	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:100231438G>A	uc003knk.3	-	1	493	c.165C>T	c.(163-165)atC>atT	p.I55I	ST8SIA4_uc003knl.3_Silent_p.I55I	NM_005668	NP_005659	Q92187	SIA8D_HUMAN	Homo sapiens ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4 (ST8SIA4), transcript variant 1, mRNA.	55					N-glycan processing|axon guidance	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)	25		all_cancers(142;1.5e-07)|all_epithelial(76;1.43e-10)|Prostate(80;0.000644)|Lung NSC(167;0.0059)|all_lung(232;0.00914)|Ovarian(225;0.024)|Colorectal(57;0.09)|Breast(839;0.203)		COAD - Colon adenocarcinoma(37;0.00402)		CCTTTCGAATGATTTTATCAG	0.378000														27			23		0	0	0.002780	0	0
PNMA5	114824	broad.mit.edu	37	X	152159858	152159858	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:152159858G>A	uc022chn.1	-	0	285	c.285C>T	c.(283-285)ccC>ccT	p.P95P	PNMA5_uc010ntx.3_Silent_p.P95P|PNMA5_uc010ntw.3_Silent_p.P95P|PNMA5_uc004fgy.4_Silent_p.P95P|PNMA5_uc022chm.1_Silent_p.P95P	NM_052926	NP_443158	Q96PV4	PNMA5_HUMAN	Homo sapiens paraneoplastic antigen like 5 (PNMA5), transcript variant 3, mRNA.	95					apoptosis			p.P95P(2)		breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					ctgggttacggggttttacca	0.512000														73			115		0	0	0.014410	0	0
HR	55806	broad.mit.edu	37	8	21976782	21976783	+	Missense_Mutation	DNP	GG	AA	AA	rs150573552		TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr8:21976782_21976783GG>AA	uc003xas.3	-	14	3656_3657	c.2991_2992CC>TT	c.(2989-2994)caccgg>caTTgg	p.R998W	HR_uc003xat.3_Missense_Mutation_p.R998W	NM_005144	NP_005135	O43593	HAIR_HUMAN	Homo sapiens hairless homolog (mouse) (HR), transcript variant 1, mRNA.	998	JmjC.						DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		AGGTGTCCCCGGTGCGGGCTCA	0.599000														10			10		0	0	0.004672	0	0
PAMR1	25891	broad.mit.edu	37	11	35456238	35456238	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:35456238C>T	uc001mwf.3	-	10	1542	c.1499G>A	c.(1498-1500)gGa>gAa	p.G500E	PAMR1_uc001mwg.3_Missense_Mutation_p.G483E|PAMR1_uc010rew.2_Missense_Mutation_p.G372E|PAMR1_uc010rex.2_Missense_Mutation_p.G443E	NM_015430	NP_056245	Q6UXH9	PAMR1_HUMAN	Homo sapiens peptidase domain containing associated with muscle regeneration 1 (PAMR1), transcript variant 1, mRNA.	483	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						GAACCACGCTCCCTTGTGTAG	0.607000														30			32		0	0	0.010818	0	0
KCTD19	146212	broad.mit.edu	37	16	67327786	67327786	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr16:67327786G>A	uc002esu.2	-	11	1930	c.1879C>T	c.(1879-1881)Cct>Tct	p.P627S	KCTD19_uc002est.2_Missense_Mutation_p.P399S|KCTD19_uc010vjj.1_Missense_Mutation_p.P370S	NM_001100915	NP_001094385	Q17RG1	KCD19_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 19 (KCTD19), mRNA.	627						voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		GTGGCGGGAGGGTCTTTGGTT	0.527000														54			65		0	0	0.014410	0	0
ITIH1	3697	broad.mit.edu	37	3	52816039	52816039	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:52816039G>A	uc003dfs.3	+	6	801	c.771G>A	c.(769-771)aaG>aaA	p.K257K	ITIH1_uc010hmn.2_Non-coding_Transcript|ITIH1_uc021wzf.1_Silent_p.K115K|ITIH1_uc021wzg.1_5'UTR|ITIH1_uc021wzh.1_5'UTR|ITIH1_uc003dft.3_5'Flank	NM_002215	NP_002206	P19827	ITIH1_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain 1 (ITIH1), transcript variant 1, mRNA.	257					hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		GGCACTTCAAGGTGACCTACG	0.587000														34			22		0	0	0.010504	0	0
TNFSF18	8995	broad.mit.edu	37	1	173010752	173010752	+	Missense_Mutation	SNP	T	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:173010752T>A	uc001giu.2	-	2	356	c.355A>T	c.(355-357)Att>Ttt	p.I119F		NM_005092	NP_005083	Q9UNG2	TNF18_HUMAN	Homo sapiens tumor necrosis factor (ligand) superfamily, member 18 (TNFSF18), mRNA.	119					anti-apoptosis|cell-cell signaling|immune response|signal transduction	extracellular space|integral to membrane	cytokine activity|tumor necrosis factor receptor binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)	9						TGGCCATAAATTAAATATAAG	0.403000														7			248		0	0	0.014410	0	0
COL4A3	1285	broad.mit.edu	37	2	228135599	228135599	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:228135599G>A	uc002vom.2	+	24	1851	c.1689G>A	c.(1687-1689)ggG>ggA	p.G563G	BC035052_uc002voq.1_Intron|AK056332_uc002vor.1_Intron	NM_000091	NP_000082	Q01955	CO4A3_HUMAN	Homo sapiens collagen, type IV, alpha 3 (Goodpasture antigen) (COL4A3), mRNA.	563	Triple-helical region.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		GCCAACCTGGGAGAAAGGGCT	0.537000														30			17		0	0	0.006122	0	0
MAGEC1	9947	broad.mit.edu	37	X	140995230	140995230	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:140995230G>A	uc004fbt.3	+	3	2364	c.2040G>A	c.(2038-2040)gaG>gaA	p.E680E	MAGEC1_uc010nsl.2_Intron|MAGEC1_uc022cfi.1_Silent_p.E339E	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	680							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					AGAGTCCTGAGAGTGCTCCTG	0.567000										HNSCC(15;0.026)				47			88		0	0	0.014410	0	0
ARHGAP35	2909	broad.mit.edu	37	19	47422257	47422257	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:47422257C>T	uc010ekv.3	+	0	325	c.325C>T	c.(325-327)Cga>Tga	p.R109*		NM_004491	NP_004482	Q9NRY4	RHG35_HUMAN	Homo sapiens Rho GTPase activating protein 35 (ARHGAP35), mRNA.	109					axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity										TCAACCTCATCGAAGCACGGC	0.498000														68			52		0	0	0.014410	0	0
C12orf42	374470	broad.mit.edu	37	12	103696155	103696155	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:103696155G>A	uc001tjt.2	-	5	902	c.814C>T	c.(814-816)Ccc>Tcc	p.P272S	C12orf42_uc001tjs.3_Intron|C12orf42_uc009zuf.1_Missense_Mutation_p.P272S|C12orf42_uc001tju.2_Missense_Mutation_p.P177S	NM_198521	NP_940923	Q96LP6	CL042_HUMAN	Homo sapiens chromosome 12 open reading frame 42 (C12orf42), transcript variant 1, mRNA.	272										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)	22						TTTCCGACGGGATTTCCGGAC	0.657000														23			21		0	0	0.003330	0	0
OR11G2	390439	broad.mit.edu	37	14	20665809	20665809	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr14:20665809C>T	uc010tlb.2	+	0	315	c.315C>T	c.(313-315)tcC>tcT	p.S105S		NM_001005503	NP_001005503	Q8NGC1	O11G2_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily G, member 2 (OR11G2), mRNA.	105					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(95;0.00108)		Epithelial(56;9.76e-07)|all cancers(55;5.61e-06)	GBM - Glioblastoma multiforme(265;0.0144)		CCAACTTCTCCTTCTTGGAGA	0.532000														24			34		0	0	0.004289	0	0
SLC22A14	9389	broad.mit.edu	37	3	38355425	38355426	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:38355425_38355426CC>TT	uc003cib.2	+	6	1444_1445	c.1371_1372CC>TT	c.(1369-1374)ctccct>ctTTct	p.P458S	SLC22A14_uc010hhc.1_Missense_Mutation_p.P458S|SLC22A14_uc011ayo.1_Non-coding_Transcript	NM_004803	NP_004794	Q9Y267	S22AE_HUMAN	Homo sapiens solute carrier family 22, member 14 (SLC22A14), mRNA.	458						integral to plasma membrane	organic cation transmembrane transporter activity			central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696)		TCCTTTTCCTCCCTGAAGGTAC	0.604000														24			33		0	0	0.004672	0	0
PCSK4	54760	broad.mit.edu	37	19	1489865	1489865	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:1489865C>T	uc002ltb.1	-	1	283	c.221G>A	c.(220-222)cGg>cAg	p.R74Q	PCSK4_uc002lta.2_5'UTR|REEP6_uc010xgp.2_5'Flank|REEP6_uc002ltc.3_5'Flank	NM_017573	NP_060043	Q6UW60	PCSK4_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 4 (PCSK4), mRNA.	74					proteolysis	integral to membrane	serine-type endopeptidase activity			cervix(2)|endometrium(2)|kidney(1)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCCCGGTGCCGCAGGTGAAA	0.692000														5			5		0	0	0.000602	0	0
BCR	613	broad.mit.edu	37	22	23630295	23630295	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr22:23630295C>T	uc002zww.3	+	11	3134	c.2538C>T	c.(2536-2538)ttC>ttT	p.F846F	BCR_uc002zwx.3_Silent_p.F846F|BCR_uc011aiy.2_Silent_p.F435F|BCR_uc002zwy.2_Silent_p.F132F	NM_004327	NP_004318	P11274	BCR_HUMAN	Homo sapiens breakpoint cluster region (BCR), transcript variant 1, mRNA.	846	PH.				regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	ATP binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|protein serine/threonine kinase activity		BCR/JAK2(6)	central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	35						GTTACACGTTCCTGATCTCCT	0.562000			T	"""ABL1,  FGFR1, JAK2 """	"""CML, ALL, AML"""									40			31		0	0	0.003271	0	0
CDH17	1015	broad.mit.edu	37	8	95201490	95201490	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr8:95201490C>T	uc003ygh.2	-	2	200	c.75G>A	c.(73-75)ggG>ggA	p.G25G	CDH17_uc011lgo.1_Silent_p.G25G|CDH17_uc011lgp.1_Silent_p.G25G	NM_004063	NP_004054	Q12864	CAD17_HUMAN	Homo sapiens cadherin 17, LI cadherin (liver-intestine) (CDH17), transcript variant 1, mRNA.	25						integral to membrane	calcium ion binding			NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			CACTAAACTTCCCCTCTTGGC	0.398000														46			34		0	0	0.005524	0	0
KDM4B	23030	broad.mit.edu	37	19	5039969	5039969	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:5039969C>T	uc010xim.2	+	2	372	c.264C>T	c.(262-264)atC>atT	p.I88I	KDM4B_uc010xil.1_Silent_p.I88I|KDM4B_uc002mbq.4_Silent_p.I88I	NM_015015	NP_055830	O94953	KDM4B_HUMAN	Homo sapiens lysine (K)-specific demethylase 4B (KDM4B), mRNA.	88					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						AGTACAATATCCAGAAGAAGG	0.677000														31			19		0	0	0.010504	0	0
GPR158	57512	broad.mit.edu	37	10	25701203	25701203	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr10:25701203C>T	uc001isj.3	+	3	1196	c.1136C>T	c.(1135-1137)tCa>tTa	p.S379L		NM_020752	NP_065803	Q5T848	GP158_HUMAN	Homo sapiens G protein-coupled receptor 158 (GPR158), mRNA.	379						integral to membrane|plasma membrane	G-protein coupled receptor activity			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						CAGCATATTTCAGGAAGTACA	0.468000														64			48		0	0	0.014410	0	0
ZNF396	252884	broad.mit.edu	37	18	32954069	32954069	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr18:32954069G>A	uc010xcf.1	-	1	320	c.188C>T	c.(187-189)tCa>tTa	p.S63L		NM_145756	NP_665699	Q96N95	ZN396_HUMAN	Homo sapiens zinc finger protein 396 (ZNF396), mRNA.	63	SCAN box.				viral reproduction	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)	7						GGGCCCAGGTGAATCCTGGTA	0.592000														23			19		0	0	0.006122	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37507968	37507968	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr10:37507968G>A	uc021ppc.1	+	33	3259	c.3160G>A	c.(3160-3162)Gaa>Aaa	p.E1054K	ANKRD30A_uc001iza.1_Missense_Mutation_p.E1054K	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	1110						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						GTTGAAAAAGGAAATTGCCAT	0.289000														19			22		0	0	0.010504	0	0
GRID2	2895	broad.mit.edu	37	4	94690473	94690473	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr4:94690473G>A	uc011cdt.2	+	14	2731	c.2473G>A	c.(2473-2475)Gcc>Acc	p.A825T	GRID2_uc011cdu.2_Missense_Mutation_p.A730T	NM_001510	NP_001501	O43424	GRID2_HUMAN	Homo sapiens glutamate receptor, ionotropic, delta 2 (GRID2), mRNA.	825					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)	GAAAGGAGGCGCCCTGGACAT	0.517000														35			36		0	0	0.005524	0	0
OR5P2	120065	broad.mit.edu	37	11	7818403	7818403	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:7818403G>A	uc001mfp.1	-	0	87	c.87C>T	c.(85-87)atC>atT	p.I29I		NM_153444	NP_703145	Q8WZ92	OR5P2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily P, member 2 (OR5P2), mRNA.	29					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	22				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TCATGAAGAGGATGACTCGAA	0.433000														10			10		0	0	0.008291	0	0
MTMR7	9108	broad.mit.edu	37	8	17228656	17228656	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr8:17228656C>T	uc003wxm.3	-	2	439	c.200G>A	c.(199-201)gGa>gAa	p.G67E		NM_004686	NP_004677	Q9Y216	MTMR7_HUMAN	Homo sapiens myotubularin related protein 7 (MTMR7), mRNA.	67							protein tyrosine phosphatase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(8)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	32				Colorectal(111;0.112)		CAGAGGGCATCCGGTAGCGGT	0.433000														67			37		0	0	0.013114	0	0
FANCM	57697	broad.mit.edu	37	14	45633577	45633577	+	Missense_Mutation	SNP	C	T	T	rs146151355		TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr14:45633577C>T	uc001wwd.4	+	9	1696	c.1597C>T	c.(1597-1599)Cgt>Tgt	p.R533C	FANCM_uc001wwc.2_Missense_Mutation_p.R533C|FANCM_uc010anf.3_Missense_Mutation_p.R507C|FANCM_uc001wwe.4_Intron	NM_020937	NP_065988	Q8IYD8	FANCM_HUMAN	Homo sapiens Fanconi anemia, complementation group M (FANCM), mRNA.	533	Helicase C-terminal.				DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|DNA binding|chromatin binding|nuclease activity|protein binding			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						GAAACAGTTTCGTGACGGTGG	0.363000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia					28			25		0	0	0.005443	0	0
WDR25	79446	broad.mit.edu	37	14	100995455	100995455	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr14:100995455C>T	uc010avx.3	+	5	1416	c.1323C>T	c.(1321-1323)ttC>ttT	p.F441F	WDR25_uc001yhn.3_Silent_p.F441F|WDR25_uc010avy.3_Non-coding_Transcript|WDR25_uc001yho.3_Silent_p.F184F	NM_001161476	NP_078791	Q64LD2	WDR25_HUMAN	Homo sapiens WD repeat domain 25 (WDR25), transcript variant 2, mRNA.	441										central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|skin(1)	20		Melanoma(154;0.212)				AGCCCGTGTTCCTGGCACAGA	0.597000														17			11		0	0	0.013537	0	0
TRAT1	50852	broad.mit.edu	37	3	108572665	108572665	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:108572665C>T	uc003dxi.1	+	5	646	c.502C>T	c.(502-504)Cat>Tat	p.H168Y	TRAT1_uc010hpx.1_Missense_Mutation_p.H131Y	NM_016388	NP_057472	Q6PIZ9	TRAT1_HUMAN	Homo sapiens T cell receptor associated transmembrane adaptor 1 (TRAT1), mRNA.	168					T cell receptor signaling pathway|cellular defense response|negative regulation of receptor recycling|negative regulation of transport|positive regulation of T cell receptor signaling pathway|positive regulation of calcium-mediated signaling	T cell receptor complex|integral to plasma membrane	phosphatidylinositol-4,5-bisphosphate 3-kinase activity|transmembrane receptor protein tyrosine kinase adaptor activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(3)	28						GGAAAACATTCATGATGATCC	0.438000														45			40		0	0	0.006230	0	0
CUL9	23113	broad.mit.edu	37	6	43184184	43184185	+	Missense_Mutation	DNP	CC	AT	AT			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr6:43184184_43184185CC>AT	uc003ouk.3	+	30	6300_6301	c.6225_6226CC>AT	c.(6223-6228)agcccc>agATcc	p.2075_2076SP>RS	CUL9_uc003oul.3_Missense_Mutation_p.2047_2048SP>RS|CUL9_uc010jyk.3_Missense_Mutation_p.1227_1228SP>RS|CUL9_uc003oun.3_Intron	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN	Homo sapiens cullin 9 (CUL9), mRNA.	2075					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						TCTGTGTGAGCCCCCTGGGGTG	0.639000														138			33		0	0	0.004672	0	0
DSCAM	1826	broad.mit.edu	37	21	41719705	41719705	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr21:41719705C>T	uc002yyq.1	-	5	1554	c.1102G>A	c.(1102-1104)Gaa>Aaa	p.E368K	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	368	Ig-like C2-type 4.				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	p.E368Q(2)		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)				ATAAGGTTTTCGTGGTTGATC	0.512000														154			109		0	0	0.014410	0	0
DAB1	1600	broad.mit.edu	37	1	57476384	57476384	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:57476384G>A	uc009vzx.1	-	13	1972	c.1652C>T	c.(1651-1653)cCa>cTa	p.P551L	DAB1_uc001cyt.1_Missense_Mutation_p.P549L|DAB1_uc001cyq.1_Missense_Mutation_p.P549L|DAB1_uc001cyr.1_Missense_Mutation_p.P465L|DAB1_uc009vzw.1_Missense_Mutation_p.P533L|DAB1_uc001cys.1_Missense_Mutation_p.P551L	NM_021080	NP_066566	O75553	DAB1_HUMAN	Homo sapiens disabled homolog 1 (Drosophila) (DAB1), mRNA.	584					cell differentiation|nervous system development					central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						ACCGGCCTGTGGACTTATATT	0.468000														6			84		0	0	0.014410	0	0
BAZ1B	9031	broad.mit.edu	37	7	72861688	72861688	+	Silent	SNP	A	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:72861688A>T	uc003tyc.3	-	15	4102	c.3750T>A	c.(3748-3750)gcT>gcA	p.A1250A		NM_032408	NP_115784	Q9UIG0	BAZ1B_HUMAN	Homo sapiens bromodomain adjacent to zinc finger domain, 1B (BAZ1B), mRNA.	1250					ATP-dependent chromatin remodeling|DNA replication-dependent nucleosome disassembly|chromatin-mediated maintenance of transcription|double-strand break repair|heart morphogenesis|transcription, DNA-dependent	WINAC complex	ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				TGTCCTCAGAAGCAGACTCTT	0.458000														34			65		0	0	0.014410	0	0
SELP	6403	broad.mit.edu	37	1	169576202	169576202	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:169576202G>A	uc001ggi.4	-	8	1569	c.1504C>T	c.(1504-1506)Cct>Tct	p.P502S	SELP_uc001ggh.3_Missense_Mutation_p.P337S|SELP_uc009wvr.3_Missense_Mutation_p.P502S	NM_003005	NP_002996	P16109	LYAM3_HUMAN	Homo sapiens selectin P (granule membrane protein 140kDa, antigen CD62) (SELP), mRNA.	502	Sushi 5.				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	CATTCTGGAGGAACAGAATTC	0.433000														4			137		0	0	0.014410	0	0
MLLT6	4302	broad.mit.edu	37	17	36873715	36873715	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr17:36873715C>T	uc002hqi.4	+	10	1695	c.1682C>T	c.(1681-1683)tCc>tTc	p.S561F	MLLT6_uc002hqj.3_5'UTR|MLLT6_uc002hqk.4_5'Flank|MIR4726_uc021twg.1_5'Flank	NM_005937	NP_005928	P55198	AF17_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6 (MLLT6), mRNA.	561					regulation of transcription, DNA-dependent	nucleus	protein binding|zinc ion binding			breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(7;4.43e-21)					GACCCCATCTCCCACAGTGGC	0.662000			T	MLL	AL									43			27		0	0	0.012213	0	0
CD276	80381	broad.mit.edu	37	15	73994903	73994903	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr15:73994903C>T	uc002avv.1	+	2	621	c.387C>T	c.(385-387)ttC>ttT	p.F129F	CD276_uc010bjd.1_5'UTR|CD276_uc002avu.1_Silent_p.F129F|CD276_uc002avw.1_Silent_p.F129F|CD276_uc010ulb.1_Silent_p.F75F	NM_001024736	NP_001019907	Q5ZPR3	CD276_HUMAN	Homo sapiens CD276 molecule (CD276), transcript variant 1, mRNA.	129	Ig-like V-type 1.				T cell activation|cell proliferation|immune response|positive regulation of T cell proliferation|positive regulation of interferon-gamma biosynthetic process|regulation of immune response	external side of plasma membrane|integral to membrane	receptor binding			endometrium(3)|lung(5)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	13						TCCGGGATTTCGGCAGCGCTG	0.682000														13			9		0	0	0.003163	0	0
MCF2	4168	broad.mit.edu	37	X	138708447	138708447	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:138708447C>T	uc011mwn.1	-	8	1033	c.1027G>A	c.(1027-1029)Gat>Aat	p.D343N	MCF2_uc004fav.3_Missense_Mutation_p.D198N|MCF2_uc004fau.3_Missense_Mutation_p.D198N|MCF2_uc010nsh.2_Missense_Mutation_p.D198N|MCF2_uc011mwm.2_Missense_Mutation_p.D159N|MCF2_uc011mwl.2_Missense_Mutation_p.D159N|MCF2_uc011mwo.1_Missense_Mutation_p.D258N|MCF2_uc004faw.2_Missense_Mutation_p.D258N	NM_001171878	NP_001165349	P10911	MCF2_HUMAN	Homo sapiens MCF.2 cell line derived transforming sequence (MCF2), transcript variant 5, mRNA.	198					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	Rho guanyl-nucleotide exchange factor activity|protein binding	p.D198N(1)|p.D258N(1)		NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					GTTTCCATATCATGTACTTGA	0.348000														92			31		0	0	0.003755	0	0
RXRB	6257	broad.mit.edu	37	6	33167028	33167028	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr6:33167028G>A	uc003odb.3	-	1	580	c.401C>T	c.(400-402)cCa>cTa	p.P134L	RXRB_uc003odc.3_Missense_Mutation_p.P134L|RXRB_uc011dqr.2_Intron|RXRB_uc011dqs.1_Intron|RXRB_uc003ode.1_5'Flank|RXRB_uc011dqt.1_Missense_Mutation_p.P134L|RXRB_uc011dqu.1_Intron|JA611279_uc021ywi.1_5'Flank|SLC39A7_uc003odf.3_5'Flank|SLC39A7_uc003odg.3_5'Flank|SLC39A7_uc011dqv.2_5'Flank	NM_021976	NP_068811	P28702	RXRB_HUMAN	Homo sapiens retinoid X receptor, beta (RXRB), mRNA.	134	Modulating (By similarity).|Pro-rich.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	ligand-regulated transcription factor activity|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(1)|skin(2)	15					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)	ACTGATGACTGGAAAGGGAGA	0.667000														7			3		0	0	0.004672	0	0
MCOLN1	57192	broad.mit.edu	37	19	7595174	7595174	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:7595174C>T	uc002mgo.3	+	11	1503	c.1362C>T	c.(1360-1362)ttC>ttT	p.F454F	MCOLN1_uc002mgp.3_Silent_p.F419F	NM_020533	NP_065394	Q9GZU1	MCLN1_HUMAN	Homo sapiens mucolipin 1 (MCOLN1), mRNA.	454					calcium ion transport|cellular iron ion homeostasis|transferrin transport	integral to plasma membrane|late endosome membrane|lysosomal membrane	cation channel activity|iron ion transmembrane transporter activity			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TCTGGCAGTTCCGCTCACTCT	0.647000														59			50		0	0	0.014410	0	0
DSP	1832	broad.mit.edu	37	6	7585490	7585490	+	Silent	SNP	G	A	A	rs35379048	byFrequency	TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr6:7585490G>A	uc003mxp.1	+	23	8274	c.7995G>A	c.(7993-7995)acG>acA	p.T2665T	DSP_uc003mxq.1_Silent_p.T2066T|DSP_uc021yle.1_Silent_p.T2222T	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	2665	Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	p.T2665T(4)		biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		ACCCAACCACGGGCCAGAAGC	0.577000														104			57		0	0	0.014410	0	0
MIPEP	4285	broad.mit.edu	37	13	24433009	24433009	+	Missense_Mutation	SNP	G	A	A	rs149545169	byFrequency	TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr13:24433009G>A	uc001uox.4	-	9	1224	c.1096C>T	c.(1096-1098)Cgt>Tgt	p.R366C		NM_005932	NP_005923	Q99797	MIPEP_HUMAN	Homo sapiens mitochondrial intermediate peptidase (MIPEP), nuclear gene encoding mitochondrial protein, mRNA.	366					protein processing involved in protein targeting to mitochondrion|proteolysis	mitochondrial matrix	metal ion binding|metalloendopeptidase activity			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(12)|prostate(2)|skin(1)	27		all_cancers(29;1.83e-22)|all_epithelial(30;8.75e-19)|all_lung(29;9.17e-18)|Lung SC(185;0.0225)|Breast(139;0.14)		all cancers(112;0.00389)|Epithelial(112;0.0266)|OV - Ovarian serous cystadenocarcinoma(117;0.0717)|Lung(94;0.207)|GBM - Glioblastoma multiforme(144;0.232)		CTTTCTGCACGAATCACACCA	0.408000														20			16		0	0	0.010504	0	0
PCDHB5	26167	broad.mit.edu	37	5	140515701	140515701	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:140515701C>T	uc003liq.3	+	0	902	c.685C>T	c.(685-687)Cgc>Tgc	p.R229C		NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	Homo sapiens protocadherin beta 5 (PCDHB5), mRNA.	229	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CACCACAATTCGCATTGTCGT	0.552000														87			74		0	0	0.014410	0	0
MRS2	57380	broad.mit.edu	37	6	24423845	24423845	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr6:24423845G>A	uc011djl.2	+	11	1386	c.1264G>A	c.(1264-1266)Gat>Aat	p.D422N	MRS2_uc003neb.3_Missense_Mutation_p.D419N|MRS2_uc011djm.2_Non-coding_Transcript|MRS2_uc011djn.2_Missense_Mutation_p.D369N	NM_020662	NP_065713	Q9HD23	MRS2_HUMAN	Homo sapiens MRS2 magnesium homeostasis factor homolog (S. cerevisiae) (MRS2), mRNA.	419					ion transport	integral to membrane|mitochondrial inner membrane				breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	12						TCTTCTGGCAGATAGAAGCAT	0.373000														34			13		0	0	0.004007	0	0
TRIM6-TRIM34	445372	broad.mit.edu	37	11	5626672	5626672	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:5626672G>A	uc001mbf.3	+	3	972	c.709G>A	c.(709-711)Gag>Aag	p.E237K	HBG1_uc001mak.1_Intron|TRIM6-TRIM34_uc009yeo.2_Missense_Mutation_p.E183K|TRIM6-TRIM34_uc010qzj.2_Missense_Mutation_p.E34K|TRIM6-TRIM34_uc001mbc.2_Missense_Mutation_p.E209K|TRIM6-TRIM34_uc001mbe.3_Missense_Mutation_p.E34K|TRIM6-TRIM34_uc001mbd.3_Missense_Mutation_p.E237K|TRIM6-TRIM34_uc010qzk.2_Missense_Mutation_p.E34K|TRIM6-TRIM34_uc010qzl.2_Missense_Mutation_p.E34K|TRIM6-TRIM34_uc009yep.1_Missense_Mutation_p.E34K	NM_001003819	NP_067629	B2RNG4	B2RNG4_HUMAN	Homo sapiens TRIM6-TRIM34 readthrough (TRIM6-TRIM34), mRNA.	237						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(9)|ovary(1)|prostate(2)|stomach(2)|urinary_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;1.01e-08)|BRCA - Breast invasive adenocarcinoma(625;0.145)		GGAACAGGAAGAGAAGAAGGG	0.512000											OREG0003723	type=REGULATORY REGION|Gene=TRIM6|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay		42			29		0	0	0.007291	0	0
SLC28A2	9153	broad.mit.edu	37	15	45554216	45554216	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr15:45554216G>A	uc001zva.2	+	3	239	c.174G>A	c.(172-174)agG>agA	p.R58R		NM_004212	NP_004203	O43868	S28A2_HUMAN	Homo sapiens solute carrier family 28 (sodium-coupled nucleoside transporter), member 2 (SLC28A2), mRNA.	58					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding|nucleoside:sodium symporter activity|purine nucleoside transmembrane transporter activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(4)|skin(1)	26		all_cancers(109;8.53e-07)|all_epithelial(112;1.39e-05)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06)		TTATTAGGAGGAGTCGGTGGC	0.403000														84			48		0	0	0.014410	0	0
RPL23P8	222901	broad.mit.edu	37	7	20867419	20867419	+	RNA	SNP	A	G	G			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:20867419A>G	uc011jyj.1	+	0		c.503A>G								Homo sapiens ribosomal protein L23 pseudogene 8 (RPL23P8), non-coding RNA.																		AAAATTTTAAACCCATTAAAA	0.338000														20			13		0	0	0.013537	0	0
DIP2A	23181	broad.mit.edu	37	21	47986563	47986563	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr21:47986563C>T	uc002zjo.2	+	36	4613	c.4430C>T	c.(4429-4431)tCt>tTt	p.S1477F	DIP2A_uc011afz.1_Missense_Mutation_p.S1473F|DIP2A_uc002zjs.2_Missense_Mutation_p.S157F|DIP2A_uc002zjt.2_Non-coding_Transcript	NM_015151	NP_055966	Q14689	DIP2A_HUMAN	Homo sapiens DIP2 disco-interacting protein 2 homolog A (Drosophila) (DIP2A), transcript variant 1, mRNA.	1477					multicellular organismal development	nucleus	catalytic activity|transcription factor binding			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		ATTGAGACCTCTGTCATCCGA	0.592000														37			25		0	0	0.006320	0	0
AK7	122481	broad.mit.edu	37	14	96953373	96953373	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr14:96953373G>A	uc001yfn.2	+	16	2157	c.2113G>A	c.(2113-2115)Gaa>Aaa	p.E705K		NM_152327	NP_689540	Q96M32	KAD7_HUMAN	Homo sapiens adenylate kinase 7 (AK7), mRNA.	705	DPY-30.				cell projection organization	cytosol	ATP binding|adenylate kinase activity|cytidylate kinase activity			breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		CGTCCGACCCGAAGACCCTGT	0.413000														32			31		0	0	0.004289	0	0
SLC5A4	6527	broad.mit.edu	37	22	32647781	32647781	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr22:32647781G>A	uc003ami.3	-	2	290	c.288C>T	c.(286-288)gtC>gtT	p.V96V		NM_014227	NP_055042	Q9NY91	SC5A4_HUMAN	Homo sapiens solute carrier family 5 (low affinity glucose cotransporter), member 4 (SLC5A4), mRNA.	96					carbohydrate transport|sodium ion transport	integral to membrane	symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|pancreas(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TTACGGTGGCGACTCCTGAAG	0.473000														63			51		0	0	0.014410	0	0
TMEM134	80194	broad.mit.edu	37	11	67235031	67235031	+	Silent	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:67235031G>A	uc001olq.1	-	2	338	c.270C>T	c.(268-270)tcC>tcT	p.S90S	TMEM134_uc001olp.1_Silent_p.S81S|TMEM134_uc001olr.1_Silent_p.S90S|TMEM134_uc001ols.1_Non-coding_Transcript|TMEM134_uc010rpt.1_Silent_p.S81S|TMEM134_uc009yrx.2_Silent_p.S90S|TMEM134_uc010rpu.1_Missense_Mutation_p.P85L|TMEM134_uc001olu.3_Missense_Mutation_p.P94L	NM_025124	NP_079400	Q9H6X4	TM134_HUMAN	Homo sapiens transmembrane protein 134 (TMEM134), transcript variant 1, mRNA.	90						integral to membrane				endometrium(1)|lung(1)	2						AGGACCACTGGGAGCTGCGGA	0.657000														30			29		0	0	0.009535	0	0
MYOM3	127294	broad.mit.edu	37	1	24433595	24433595	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:24433595G>A	uc001bin.4	-	3	533	c.370C>T	c.(370-372)Cag>Tag	p.Q124*	MYOM3_uc001bio.3_Nonsense_Mutation_p.Q124*|MYOM3_uc001bip.1_5'UTR	NM_152372	NP_689585	Q5VTT5	MYOM3_HUMAN	Homo sapiens myomesin family, member 3 (MYOM3), mRNA.	124										NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		TCCCGCCTCTGGCGCAGCAGC	0.692000														0			10		0	0	0.013537	0	0
PKD1L2	114780	broad.mit.edu	37	16	81180978	81180978	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr16:81180978C>T	uc002fgh.1	-	29	5113	c.5113G>A	c.(5113-5115)Ggg>Agg	p.G1705R	PKD1L2_uc002fgg.1_Non-coding_Transcript	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN	Homo sapiens polycystic kidney disease 1-like 2 (PKD1L2), transcript variant 1, mRNA.	1705					neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						AACACCTGCCCTGATGTGTTC	0.522000														62			80		0	0	0.014410	0	0
POU5F1	5460	broad.mit.edu	37	6	31138094	31138094	+	RNA	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr6:31138094C>T	uc011dng.1	+	0		c.102C>T			POU5F1_uc003nsv.3_Missense_Mutation_p.G102R			Q01860	PO5F1_HUMAN	Homo sapiens partial mRNA for POU class 5 homeobox 1 (POU5F1 gene), clone ARO0003057_AS.						BMP signaling pathway involved in heart induction|anatomical structure morphogenesis|blastocyst development|cardiac cell fate determination|cell fate commitment involved in formation of primary germ layers|mRNA transcription from RNA polymerase II promoter|negative regulation of gene silencing by miRNA|positive regulation of SMAD protein import into nucleus|positive regulation of catenin import into nucleus|positive regulation of transcription from RNA polymerase II promoter|regulation of asymmetric cell division|regulation of heart induction by regulation of canonical Wnt receptor signaling pathway|regulation of methylation-dependent chromatin silencing|response to wounding|somatic stem cell maintenance	cytosol|nucleoplasm|transcription factor complex	miRNA binding|sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|ubiquitin protein ligase binding		EWSR1/POU5F1(10)	breast(1)|large_intestine(2)|lung(3)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	13						CTCTCCACCCCGACTCCTGCT	0.662000			T	EWSR1	sarcoma									37			9		0	0	0.008291	0	0
ZBED1	9189	broad.mit.edu	37	X	2408288	2408288	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:2408288G>A	uc022brx.1	-	0	473	c.473C>T	c.(472-474)cCc>cTc	p.P158L	DHRSX_uc004cqf.4_Intron|ZBED1_uc004cqh.2_Missense_Mutation_p.P158L|ZBED1_uc004cqg.2_Missense_Mutation_p.P158L|ZBED1_uc022brw.1_Missense_Mutation_p.P158L	NM_004729	NP_004720	O96006	ZBED1_HUMAN	Homo sapiens zinc finger, BED-type containing 1 (ZBED1), transcript variant 2, mRNA.	158						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)				CTCATACCGGGGGTCGGCCGT	0.662000														56			45		0	0	0.014410	0	0
OR4N5	390437	broad.mit.edu	37	14	20611898	20611898	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr14:20611898G>A	uc010tla.2	+	0	4	c.4G>A	c.(4-6)Gaa>Aaa	p.E2K		NM_001004724	NP_001004724	Q8IXE1	OR4N5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily N, member 5 (OR4N5), mRNA.	2					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)		AGAAATTATGGAAACACAGAA	0.368000														44			39		0	0	0.007835	0	0
PLCB4	5332	broad.mit.edu	37	20	9343600	9343600	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr20:9343600C>T	uc021wam.1	+	4	442	c.427C>T	c.(427-429)Cca>Tca	p.P143S	PLCB4_uc010gbw.1_Missense_Mutation_p.P143S|PLCB4_uc010gbx.3_Missense_Mutation_p.P143S|PLCB4_uc021wal.1_Missense_Mutation_p.P143S	NM_000933	NP_000924	Q15147	PLCB4_HUMAN	Homo sapiens phospholipase C, beta 4 (PLCB4), transcript variant 1, mRNA.	143					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						CAACGTCAGTCCAATGACATG	0.418000														13			13		0	0	0.006122	0	0
OR52J3	119679	broad.mit.edu	37	11	5068617	5068617	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:5068617C>T	uc010qyv.2	+	0	862	c.862C>T	c.(862-864)Ctc>Ttc	p.L288F		NM_001001916	NP_001001916	Q8NH60	O52J3_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily J, member 3 (OR52J3), mRNA.	288					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(6)|large_intestine(6)|lung(19)|ovary(1)|skin(2)	36		Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204)		Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19)		CCCACCCTCTCTCAACCCCAT	0.388000														35			35		0	0	0.003755	0	0
C7orf63	79846	broad.mit.edu	37	7	89897657	89897657	+	Missense_Mutation	SNP	T	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:89897657T>A	uc010lep.3	+	5	742	c.491T>A	c.(490-492)gTt>gAt	p.V164D	C7orf63_uc003ukf.2_Non-coding_Transcript|C7orf63_uc003ukg.2_5'UTR|C7orf63_uc011khj.2_Intron|C7orf63_uc010leo.2_Missense_Mutation_p.V162D	NM_001039706	NP_001034795	A5D8W1	CG063_HUMAN	Homo sapiens chromosome 7 open reading frame 63 (C7orf63), transcript variant 1, mRNA.	164							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						AAGTGTATTGTTGATTTTTAT	0.338000														43			19		0	0	0.010504	0	0
RPS6KA6	27330	broad.mit.edu	37	X	83320119	83320119	+	Splice_Site	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:83320119C>T	uc004eej.2	-	21	2008	c.1972_splice	c.e21-1	p.D658_splice	RPS6KA6_uc011mqt.2_Splice_Site_p.D658_splice|RPS6KA6_uc011mqu.2_Splice_Site_p.D555_splice	NM_014496	NP_055311	Q9UK32	KS6A6_HUMAN	Homo sapiens ribosomal protein S6 kinase, 90kDa, polypeptide 6 (RPS6KA6), mRNA.	658	Protein kinase 2.				axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						GAAAGCAAATCCTAAATTAAA	0.338000														28			20		0	0	0.012319	0	0
FAM50B	26240	broad.mit.edu	37	6	3850681	3850681	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr6:3850681C>T	uc003mvu.3	+	1	748	c.636C>T	c.(634-636)ttC>ttT	p.F212F	FAM50B_uc021ykt.1_Silent_p.F212F	NM_012135	NP_036267	Q9Y247	FA50B_HUMAN	Homo sapiens family with sequence similarity 50, member B (FAM50B), mRNA.	212						nucleus				cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(3)|urinary_tract(3)	17	Ovarian(93;0.0925)	all_hematologic(90;0.108)				TGCAGCAGTTCCTGAAGAAGG	0.652000														44			18		0	0	0.007413	0	0
BSN	8927	broad.mit.edu	37	3	49662657	49662657	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:49662657C>T	uc003cxe.4	+	1	588	c.474C>T	c.(472-474)gtC>gtT	p.V158V		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA.	158					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding	p.V158F(1)|p.V158I(1)		breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CCTACTCCGTCCCTCAGATCG	0.637000														22			23		0	0	0.003954	0	0
SPIC	121599	broad.mit.edu	37	12	101880268	101880268	+	Nonsense_Mutation	SNP	A	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:101880268A>T	uc001tid.3	+	5	625	c.466A>T	c.(466-468)Aaa>Taa	p.K156*	SPIC_uc010svp.2_Nonsense_Mutation_p.K156*|SPIC_uc009zua.3_Nonsense_Mutation_p.K31*|SPIC_uc021rcq.1_Nonsense_Mutation_p.K31*	NM_152323	NP_689536	Q8N5J4	SPIC_HUMAN	Homo sapiens Spi-C transcription factor (Spi-1/PU.1 related) (SPIC), mRNA.	156						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	22						GCTTTGGGGGAAAAGAAAAGG	0.423000														35			22		0	0	0.010504	0	0
ADAM19	8728	broad.mit.edu	37	5	156932732	156932732	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:156932732C>T	uc003lwz.3	-	10	1154	c.1075G>A	c.(1075-1077)Gat>Aat	p.D359N	ADAM19_uc003lww.2_Missense_Mutation_p.D92N|ADAM19_uc003lwy.3_5'Flank|ADAM19_uc011ddr.1_Missense_Mutation_p.D290N	NM_033274	NP_150377	Q9H013	ADA19_HUMAN	Homo sapiens ADAM metallopeptidase domain 19 (ADAM19), mRNA.	359	Peptidase M12B.				proteolysis	integral to membrane	SH3 domain binding|metalloendopeptidase activity|zinc ion binding	p.S358S(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GAGCAGCAATCTGCAGAATCA	0.602000														15			10		0	0	0.008291	0	0
MED1	5469	broad.mit.edu	37	17	37580986	37580986	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr17:37580986G>A	uc002hrv.4	-	10	957	c.745C>T	c.(745-747)Cga>Tga	p.R249*	MED1_uc010wee.2_Nonsense_Mutation_p.R77*|MED1_uc002hru.2_Nonsense_Mutation_p.R249*	NM_004774	NP_004765	Q15648	MED1_HUMAN	Homo sapiens mediator complex subunit 1 (MED1), mRNA.	249	Interaction with ESR1.|Interaction with the Mediator complex and THRA.|Interaction with the Mediator complex.				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|RNA polymerase II transcription cofactor activity|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|thyroid hormone receptor binding|vitamin D receptor binding			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		CCCAAAGATCGAGAAACTGGG	0.373000										HNSCC(31;0.082)				39			30		0	0	0.010818	0	0
TRPC6	7225	broad.mit.edu	37	11	101375405	101375405	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:101375405C>T	uc001pgk.4	-	1	720	c.295G>A	c.(295-297)Gag>Aag	p.E99K	TRPC6_uc009ywy.3_Missense_Mutation_p.E99K|TRPC6_uc009ywz.1_Missense_Mutation_p.E99K	NM_004621	NP_004612	Q9Y210	TRPC6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 6 (TRPC6), mRNA.	99					axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		AAGCGTTCCTCCTCTATAGAT	0.478000														3			67		0	0	0.014410	0	0
FLNC	2318	broad.mit.edu	37	7	128489238	128489238	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:128489238C>T	uc003vnz.4	+	28	5140	c.4931C>T	c.(4930-4932)tCc>tTc	p.S1644F	FLNC_uc003voa.4_Missense_Mutation_p.S1644F	NM_001458	NP_001449	Q14315	FLNC_HUMAN	Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA.	1644					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						TTTCCAGTGTCCATTGGAGGC	0.662000														31			11		0	0	0.001855	0	0
PI3	5266	broad.mit.edu	37	20	43804764	43804764	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr20:43804764C>T	uc002xng.3	+	1	366	c.342C>T	c.(340-342)ttC>ttT	p.F114F		NM_002638	NP_002629	P19957	ELAF_HUMAN	Homo sapiens peptidase inhibitor 3, skin-derived (PI3), mRNA.	114	WAP.				copulation	proteinaceous extracellular matrix	serine-type endopeptidase inhibitor activity			large_intestine(1)|lung(5)|skin(1)	7		Myeloproliferative disorder(115;0.0122)				TGGCCTGTTTCGTTCCCCAGT	0.567000														31			38		0	0	0.006230	0	0
DOCK3	1795	broad.mit.edu	37	3	51251646	51251646	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:51251646G>A	uc011bds.2	+	13	1243	c.1220G>A	c.(1219-1221)aGa>aAa	p.R407K		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	Homo sapiens dedicator of cytokinesis 3 (DOCK3), mRNA.	407						cytoplasm	GTP binding|GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		GCAATTACAAGAAAATTGGGA	0.453000														11			13		0	0	0.013537	0	0
TMPRSS11E	28983	broad.mit.edu	37	4	69337307	69337307	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr4:69337307C>T	uc003hdz.4	+	4	520	c.456C>T	c.(454-456)ccC>ccT	p.P152P		NM_014058	NP_054777	Q9UL52	TM11E_HUMAN	Homo sapiens transmembrane protease, serine 11E (TMPRSS11E), mRNA.	152	SEA.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			endometrium(1)|lung(19)|pancreas(1)|skin(3)	24						CTGTAGGACCCCCTAAAGTAG	0.338000														72			48		0	0	0.014410	0	0
SLC39A8	64116	broad.mit.edu	37	4	103236961	103236961	+	Silent	SNP	G	A	A	rs139422652		TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr4:103236961G>A	uc003hwb.1	-	1	775	c.246C>T	c.(244-246)tcC>tcT	p.S82S	SLC39A8_uc011ceo.1_Silent_p.S82S|SLC39A8_uc003hwa.1_Silent_p.S15S|SLC39A8_uc003hwc.2_Silent_p.S82S	NM_022154	NP_071437	Q9C0K1	S39A8_HUMAN	Homo sapiens solute carrier family 39 (zinc transporter), member 8 (SLC39A8), transcript variant 1, mRNA.	82						integral to membrane|organelle membrane|plasma membrane	zinc ion transmembrane transporter activity			large_intestine(1)|lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9		Hepatocellular(203;0.217)		all cancers(1;9.78e-10)|OV - Ovarian serous cystadenocarcinoma(123;1.52e-09)|GBM - Glioblastoma multiforme(1;0.000142)		AGCCATGAAGGGAAAAGATCT	0.353000														32			43		0	0	0.010771	0	0
VPS16	64601	broad.mit.edu	37	20	2846048	2846048	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr20:2846048C>T	uc002whe.3	+	21	2226	c.2178C>T	c.(2176-2178)ctC>ctT	p.L726L	PTPRA_uc002whj.3_Intron|VPS16_uc002whf.3_Silent_p.L582L|VPS16_uc002whg.3_Silent_p.L412L	NM_022575	NP_072097	Q9H269	VPS16_HUMAN	Homo sapiens vacuolar protein sorting 16 homolog (S. cerevisiae) (VPS16), transcript variant 1, mRNA.	726					intracellular protein transport	HOPS complex|early endosome|late endosome membrane|lysosomal membrane|recycling endosome				NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	37						CCTGCAGGCTCTGGTGGCTGA	0.572000														18			12		0	0	0.002450	0	0
SLIT1	6585	broad.mit.edu	37	10	98820540	98820540	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr10:98820540C>T	uc001kmw.2	-	8	1050	c.798G>A	c.(796-798)caG>caA	p.Q266Q	SLIT1_uc009xvh.1_Silent_p.Q266Q	NM_003061	NP_003052	O75093	SLIT1_HUMAN	Homo sapiens slit homolog 1 (Drosophila) (SLIT1), mRNA.	266					axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	Roundabout binding|calcium ion binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		CCGCTTCTCCCTGGCCTGCAG	0.637000														5			9		0	0	0.006214	0	0
EIF3L	51386	broad.mit.edu	37	22	38273863	38273863	+	Silent	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr22:38273863C>T	uc003auf.3	+	10	1338	c.1260C>T	c.(1258-1260)ttC>ttT	p.F420F	EIF3L_uc011ann.2_Silent_p.F372F|EIF3L_uc003aug.3_Silent_p.F312F	NM_016091	NP_057175	Q9Y262	EIF3L_HUMAN	Homo sapiens eukaryotic translation initiation factor 3, subunit L (EIF3L), transcript variant 1, mRNA.	420						eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity	p.F420F(2)		kidney(2)|large_intestine(3)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						GCCCCAAGTTCCTGTCGCCTG	0.502000														29			31		0	0	0.010818	0	0
ZCCHC13	389874	broad.mit.edu	37	X	73524285	73524285	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:73524285C>T	uc004ebs.4	+	0	261	c.184C>T	c.(184-186)Ctt>Ttt	p.L62F		NM_203303	NP_976048	Q8WW36	ZCH13_HUMAN	Homo sapiens zinc finger, CCHC domain containing 13 (ZCCHC13), mRNA.	62							nucleic acid binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	8						GAACTGTGTCCTTCTCGGAAA	0.517000														35			21		0	0	0.014323	0	0
ANO4	121601	broad.mit.edu	37	12	101333101	101333101	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:101333101G>A	uc010svm.1	+	3	741	c.169G>A	c.(169-171)Gat>Aat	p.D57N	ANO4_uc010svl.1_Non-coding_Transcript|ANO4_uc001thw.2_Missense_Mutation_p.D22N|ANO4_uc001thx.2_Missense_Mutation_p.D57N	NM_178826	NP_849148	Q32M45	ANO4_HUMAN	Homo sapiens anoctamin 4 (ANO4), mRNA.	57						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						AGTGGCCAAGGATGTCAATAT	0.383000										HNSCC(74;0.22)				61			39		0	0	0.014410	0	0
GLRA3	8001	broad.mit.edu	37	4	175649639	175649639	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr4:175649639G>A	uc003ity.1	-	3	981	c.478C>T	c.(478-480)Ctt>Ttt	p.L160F	GLRA3_uc003itz.1_Missense_Mutation_p.L160F	NM_006529	NP_006520	O75311	GLRA3_HUMAN	Homo sapiens glycine receptor, alpha 3 (GLRA3), transcript variant 1, mRNA.	160					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity			endometrium(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	35		Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107)		all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421)	Glycine(DB00145)	ATTGAATAAAGAACATTTCCA	0.343000														26			30		0	0	0.006320	0	0
PTPN14	5784	broad.mit.edu	37	1	214557049	214557051	+	In_Frame_Del	DEL	CCT	-	-			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:214557049_214557051delCCT	uc001hkk.2	-	12	2800_2802	c.2147_2149delAGG	c.(2146-2151)gaggct>gct	p.E716del	PTPN14_uc021piy.1_In_Frame_Del_p.E480del|PTPN14_uc010pty.2_In_Frame_Del_p.E617del	NM_005401	NP_005392	Q15678	PTN14_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 14 (PTPN14), mRNA.	716	Poly-Glu.				lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding	p.E716delE(2)		NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		GATTCTGGAGCCTCCTCCTCCTC	0.626													---	79	---	---	10	---					
FRAS1	80144	broad.mit.edu	37	4	79373459	79373460	+	Frame_Shift_Del	DEL	AA	-	-			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr4:79373459_79373460delAA	uc003hlb.2	+	46	7154_7155	c.6714_6715delAA	c.(6712-6717)agaatcfs	p.R2238fs		NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	2237					cell communication	integral to membrane|plasma membrane	metal ion binding	p.R2239T(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						TGATCTACAGAATCACCAGACA	0.460													---	18	---	---	19	---					
TNXB	7148	broad.mit.edu	37	6	32063513	32063514	+	Frame_Shift_Del	DEL	AC	-	-			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr6:32063513_32063514delAC	uc003nzl.2	-	2	2318_2319	c.2116_2117delGT	c.(2116-2118)gtafs	p.V706fs		NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	706	EGF-like 18.				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						GAAGCCCTCTACACACACACAC	0.668													---	342	---	---	11	---					
DPY19L2P2	349152	broad.mit.edu	37	7	102850713	102850713	+	Splice_Site	DEL	C	-	-			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:102850713delC	uc003vbh.4	-	19	3201	c.1010_splice	c.e19+1	p.R337_splice	DPY19L2P2_uc003vbg.4_Splice_Site|DPY19L2P2_uc010lit.3_Splice_Site					Homo sapiens dpy-19-like 2 pseudogene 2 (C. elegans) (DPY19L2P2), transcript variant 2, non-coding RNA.																		GATATAATTACCTTAGATAAA	0.254													---	9	---	---	9	---					
USP35	57558	broad.mit.edu	37	11	77921051	77921053	+	In_Frame_Del	DEL	AGA	-	-			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:77921051_77921053delAGA	uc021qny.1	+	9	2506_2508	c.2150_2152delAGA	c.(2149-2154)gagaag>gag	p.K718del	USP35_uc001oze.2_In_Frame_Del_p.K474del|USP35_uc001ozc.3_In_Frame_Del_p.K286del|USP35_uc010rsp.2_In_Frame_Del_p.K150del|USP35_uc001ozd.3_In_Frame_Del_p.K329del|USP35_uc001ozf.3_In_Frame_Del_p.K449del	NM_020798	NP_065849	Q9P2H5	UBP35_HUMAN	Homo sapiens ubiquitin specific peptidase 35 (USP35), mRNA.	718					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			gaggaagaagagaaggtggagaa	0.591													---	11	---	---	14	---					
ASUN	55726	broad.mit.edu	37	12	27089698	27089705	+	Frame_Shift_Del	DEL	AACAAACA	-	-			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:27089698_27089705delAACAAACA	uc001rhk.4	-	1	569_576	c.32_39delTGTTTGTT	c.(31-39)gtgtttgttfs	p.V11fs	ASUN_uc010sjk.2_Intron|FGFR1OP2_uc001rhl.3_5'Flank|FGFR1OP2_uc001rhm.3_5'Flank|FGFR1OP2_uc001rhn.3_5'Flank	NM_018164	NP_060634	Q9NVM9	M89BB_HUMAN	Homo sapiens asunder, spermatogenesis regulator homolog (Drosphila) (ASUN), mRNA.	11					cell division|mitosis|regulation of mitotic cell cycle		protein binding										AGTGATCCACAACAAACACTGTTTTATG	0.365													---	27	---	---	8	---					
abParts	0	broad.mit.edu	37	14	107183650	107183650	+	RNA	DEL	C	-	-			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr14:107183650delC	uc021ser.1	-	29		c.1928delG								Parts of antibodies, mostly variable regions.																		GTCTCAGGGACCCCCCAGGCT	0.592													---	84	---	---	14	---					
SERPINB2	5055	broad.mit.edu	37	18	61564981	61564982	+	Frame_Shift_Ins	INS	-	A	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr18:61564981_61564982insA	uc010xeu.2	+	5	771_772	c.438_439insA	c.(436-441)cagaaafs	p.Q146fs	SERPINB2_uc002ljo.3_Frame_Shift_Ins_p.Q146fs|SERPINB2_uc002ljp.1_5'UTR|SERPINB2_uc002ljq.1_5'UTR	NM_001143818	NP_002566	P05120	PAI2_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 2 (SERPINB2), transcript variant 1, mRNA.	146					anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis	Golgi apparatus|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1)	32		Esophageal squamous(42;0.131)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	GACTCTGTCAGAAATATTACTC	0.376													---	52	---	---	39	---					
POFUT2	23275	broad.mit.edu	37	21	46707783	46707783	+	Frame_Shift_Del	DEL	C	-	-			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr21:46707783delC	uc002zhc.3	-	0	29	c.4delG	c.(4-6)gcgfs	p.A2fs	POFUT2_uc002zhb.3_Non-coding_Transcript|POFUT2_uc002zhd.3_Frame_Shift_Del_p.A2fs|POFUT2_uc011afp.1_Frame_Shift_Del_p.A2fs|POFUT2_uc011afq.1_Frame_Shift_Del_p.A2fs|LOC642852_uc002zhf.3_5'Flank	NM_133635	NP_598368	Q9Y2G5	OFUT2_HUMAN	Homo sapiens protein O-fucosyltransferase 2 (POFUT2), transcript variant 3, mRNA.	2					fucose metabolic process	endoplasmic reticulum	peptide-O-fucosyltransferase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	20				Colorectal(79;0.243)		CTGAGTGTCGCCATGGCCCCG	0.716													---	4	---	---	2	---					
LGALS2	3957	broad.mit.edu	37	22	37967935	37967935	+	Frame_Shift_Del	DEL	C	-	-			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr22:37967935delC	uc003ata.3	-	1	122	c.10delG	c.(10-12)gaafs	p.E4fs		NM_006498	NP_006489	P05162	LEG2_HUMAN	Homo sapiens lectin, galactoside-binding, soluble, 2 (LGALS2), mRNA.	4	Galectin.							p.G3G(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|stomach(1)	11	Melanoma(58;0.0574)					ACCTCAAGTTCCCCCTGGGCC	0.547													---	49	---	---	27	---					
