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
SLC23A3	151295	broad.mit.edu	37	2	220027108	220027109	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:220027108_220027109GG>AA	uc010zkr.2	-	10	1584_1585	c.1473_1474CC>TT	c.(1471-1476)agcccc>agTTcc	p.P492S	NHEJ1_uc002vjp.4_5'Flank|NHEJ1_uc002vjq.4_Non-coding_Transcript|SLC23A3_uc010zks.2_Missense_Mutation_p.P484S|SLC23A3_uc010fwb.3_Missense_Mutation_p.P367S	NM_001144890	NP_001138362	Q6PIS1	S23A3_HUMAN	Homo sapiens solute carrier family 23 (nucleobase transporters), member 3 (SLC23A3), transcript variant 3, mRNA.	484					transmembrane transport	integral to membrane	protein binding|transporter activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	11		Renal(207;0.0474)		Epithelial(149;9.27e-07)|all cancers(144;0.000156)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACATCCAAGGGGCTCCAGCCTA	0.530000														17			11		0	0	0.004672	0	0
DDX23	9416	broad.mit.edu	37	12	49239535	49239535	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:49239535G>A	uc001rsm.3	-	1	122	c.31C>T	c.(31-33)Cgt>Tgt	p.R11C		NM_004818	NP_004809	Q9BUQ8	DDX23_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 23 (DDX23), mRNA.	11						U5 snRNP|catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent RNA helicase activity|nucleic acid binding|protein binding			NS(1)|cervix(1)|kidney(4)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(3)	36						GATGCATCACGGTCCTTTTTG	0.468000														20			12		0	0	0.001855	0	0
APPBP2	10513	broad.mit.edu	37	17	58529386	58529386	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:58529386G>A	uc002iys.1	-	11	1647	c.1359C>T	c.(1357-1359)atC>atT	p.I453I	APPBP2_uc010ddl.1_Silent_p.I382I	NM_006380	NP_006371	Q92624	APBP2_HUMAN	Homo sapiens amyloid beta precursor protein (cytoplasmic tail) binding protein 2 (APPBP2), mRNA.	453					intracellular protein transport	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|nucleus	microtubule motor activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(17)|pancreas(1)|urinary_tract(1)	25	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.67e-13)|all cancers(12;1.44e-11)|Colorectal(3;0.01)			GAATTGCTTTGATGTGCATTT	0.328000														61			13		0	0	0.004990	0	0
C4orf50	389197	broad.mit.edu	37	4	5961091	5961091	+	RNA	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:5961091G>A	uc003git.2	-	6		c.2140C>T						Q6ZRC1	CD050_HUMAN	Homo sapiens cDNA FLJ46481 fis, clone THYMU3025772.											breast(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(2)|skin(3)|urinary_tract(1)	15						TCCGGAGAATGAGTGGCCCTA	0.438000														63			21		0	0	0.002299	0	0
ATP1A4	480	broad.mit.edu	37	1	160156065	160156065	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:160156065G>A	uc001fve.4	+	21	3449	c.2970_splice	c.e21-1	p.K990_splice	ATP1A4_uc001fvf.4_Splice_Site|ATP1A4_uc001fvg.3_Splice_Site_p.K493_splice|ATP1A4_uc001fvh.3_Splice_Site_p.K126_splice	NM_144699	NP_653300	Q13733	AT1A4_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 4 polypeptide (ATP1A4), transcript variant 1, mRNA.	990					ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GCTCTCTACAGGATAACCTGG	0.512000														157			67		0	0	0.003610	0	0
MAP3K15	389840	broad.mit.edu	37	X	19443746	19443746	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chrX:19443746C>T	uc022btq.1	-	8	1342	c.1342G>A	c.(1342-1344)Gat>Aat	p.D448N	MAP3K15_uc004czj.2_5'UTR|MAP3K15_uc004czk.2_5'UTR	NM_001001671	NP_001001671	Q6ZN16	M3K15_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 15 (MAP3K15), mRNA.	448							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)					TGACCCACATCCCAGTAATTG	0.458000														2			16		0	0	0.004007	0	0
CLCN4	1183	broad.mit.edu	37	X	10176170	10176170	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chrX:10176170C>T	uc004csy.4	+	8	1359	c.929C>T	c.(928-930)cCc>cTc	p.P310L	CLCN4_uc011mid.2_Missense_Mutation_p.P216L	NM_001830	NP_001821	P51793	CLCN4_HUMAN	Homo sapiens chloride channel 4 (CLCN4), mRNA.	310						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						TCCATCAATCCCTTTGGGAAT	0.517000														46			80		0	0	0.003610	0	0
MEGF10	84466	broad.mit.edu	37	5	126781199	126781199	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:126781199G>A	uc003kuh.4	+	20	2904	c.2542G>A	c.(2542-2544)Gct>Act	p.A848T	MEGF10_uc003kui.4_Missense_Mutation_p.A848T	NM_032446	NP_115822	Q96KG7	MEG10_HUMAN	Homo sapiens multiple EGF-like-domains 10 (MEGF10), mRNA.	848	Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		AACCAGTACTGCTCTCCCTGC	0.428000														63			6		0	0	0.003080	0	0
EAF2	55840	broad.mit.edu	37	3	121575903	121575903	+	Silent	SNP	A	G	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:121575903A>G	uc003een.3	+	3	483	c.384A>G	c.(382-384)caA>caG	p.Q128Q	EAF2_uc003eeo.3_5'UTR	NM_018456	NP_060926	Q96CJ1	EAF2_HUMAN	Homo sapiens ELL associated factor 2 (EAF2), mRNA.	128	Poly-Gln.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	protein binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)	9				GBM - Glioblastoma multiforme(114;0.0972)		AACAACAGCAACAACAAATGT	0.358000														53			23		0	0	0.002299	0	0
KRTAP4-9	100132386	broad.mit.edu	37	17	39261852	39261852	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:39261852A>G	uc010wfp.2	+	0	212	c.212A>G	c.(211-213)cAg>cGg	p.Q71R		NM_001146041	NP_001139513	Q9BYQ8	KRA49_HUMAN	Homo sapiens keratin associated protein 4-9 (KRTAP4-9), mRNA.	71	29 X 5 AA repeats of C-C-[RQVHIEK]- [SPTR]-[VSTQCRNP].		Missing (in allele KAP.9-v1).			keratin filament				central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						AGCTGCTGTCAGACCACCTGT	0.652000														17			4		0	0	0.000248	0	0
PROKR2	128674	broad.mit.edu	37	20	5282769	5282769	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr20:5282769C>T	uc010zqw.2	-	1	1080	c.1072G>A	c.(1072-1074)Ggg>Agg	p.G358R	PROKR2_uc010zqx.2_Missense_Mutation_p.G358R|PROKR2_uc010zqy.2_Missense_Mutation_p.G358R	NM_144773	NP_658986	Q8NFJ6	PKR2_HUMAN	Homo sapiens prokineticin receptor 2 (PROKR2), mRNA.	358						integral to membrane|plasma membrane	neuropeptide Y receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						GACTTGCTCCCCCGCTGGGAG	0.552000										HNSCC(71;0.22)				57			21		0	0	0.001523	0	0
MAGEB6	158809	broad.mit.edu	37	X	26212270	26212270	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chrX:26212270C>T	uc022buc.1	+	0	307	c.307C>T	c.(307-309)Cct>Tct	p.P103S	MAGEB6_uc004dbr.3_Missense_Mutation_p.P103S	NM_173523	NP_775794	Q8N7X4	MAGB6_HUMAN	Homo sapiens melanoma antigen family B, 6 (MAGEB6), mRNA.	103	Ser-rich.							p.P103L(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						TGCCTCCGTTCCTCAGGAGTC	0.522000														15			39		0	0	0.002222	0	0
PACS1	55690	broad.mit.edu	37	11	66006630	66006630	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:66006630C>T	uc001oha.2	+	20	2445	c.2311C>T	c.(2311-2313)Cct>Tct	p.P771S	PACS1_uc010rou.2_Missense_Mutation_p.P307S	NM_018026	NP_060496	Q6VY07	PACS1_HUMAN	Homo sapiens phosphofurin acidic cluster sorting protein 1 (PACS1), mRNA.	771				P -> S (in Ref. 2; BAC04831).	interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction	cytosol	protein binding		RBM14/PACS1(2)	breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1)	37						GGACGATTCTCCTGTGGTCAG	0.622000														30			15		0	0	0.008871	0	0
PTPRR	5801	broad.mit.edu	37	12	71286603	71286603	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:71286603T>A	uc001swi.2	-	1	627	c.213A>T	c.(211-213)gaA>gaT	p.E71D		NM_002849	NP_570897	Q15256	PTPRR_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, R (PTPRR), transcript variant 1, mRNA.	71					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)		TTACTTGAGCTTCGGAAGAGG	0.453000														145			82		0	0	0.003610	0	0
ZNF536	9745	broad.mit.edu	37	19	31039981	31039981	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:31039981C>T	uc002nsu.1	+	3	3593	c.3455C>T	c.(3454-3456)aCc>aTc	p.T1152I	ZNF536_uc010edd.1_Missense_Mutation_p.T1152I	NM_014717	NP_055532	O15090	ZN536_HUMAN	Homo sapiens zinc finger protein 536 (ZNF536), mRNA.	1152					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					ATCCCCGAAACCACGAGTAAG	0.552000														34			12		0	0	0.000978	0	0
KRT1	3848	broad.mit.edu	37	12	53072441	53072441	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:53072441A>T	uc001sau.1	-	1	750	c.691T>A	c.(691-693)Ttt>Att	p.F231I	KRT1_uc001sav.1_Missense_Mutation_p.F231I	NM_006121	NP_006112	P04264	K2C1_HUMAN	Homo sapiens keratin 1 (KRT1), mRNA.	231	Linker 1.|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						AATGACTCAAAGTAGGGCTCT	0.483000														84			39		0	0	0.007835	0	0
PSG5	5673	broad.mit.edu	37	19	43680251	43680251	+	Silent	SNP	C	T	T	rs138774767		TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:43680251C>T	uc002ovu.3	-	2	611	c.480G>A	c.(478-480)gaG>gaA	p.E160E	PSG4_uc010xwk.1_Intron|PSG5_uc002ovx.3_Silent_p.E160E	NM_002781	NP_002772	Q15238	PSG5_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 5 (PSG5), transcript variant 1, mRNA.	160	Ig-like C2-type 1.				female pregnancy	extracellular region		p.E160E(2)|p.E160K(1)		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)				CATCCTTATTCTCCCTGGGTT	0.488000														166			67		0	0	0.003610	0	0
NIPBL	25836	broad.mit.edu	37	5	37017166	37017166	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:37017166G>C	uc003jkl.4	+	23	5321	c.4822G>C	c.(4822-4824)Gca>Cca	p.A1608P	NIPBL_uc003jkk.4_Missense_Mutation_p.A1608P	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	Homo sapiens Nipped-B homolog (Drosophila) (NIPBL), transcript variant A, mRNA.	1608					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			TTTAAGAGTGGCATCTCTTGA	0.323000														28			12		0	0	0.001368	0	0
MYOM3	127294	broad.mit.edu	37	1	24383871	24383871	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:24383871C>T	uc001bin.4	-	36	4460	c.4297G>A	c.(4297-4299)Gag>Aag	p.E1433K	MYOM3_uc001bil.4_Missense_Mutation_p.E326K|MYOM3_uc001bim.4_Missense_Mutation_p.E1090K	NM_152372	NP_689585	Q5VTT5	MYOM3_HUMAN	Homo sapiens myomesin family, member 3 (MYOM3), mRNA.	1433										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)		CTCTTCAGCTCCTTGGGCTCG	0.582000														8			14		0	0	0.002450	0	0
OR6M1	390261	broad.mit.edu	37	11	123676588	123676589	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:123676588_123676589GG>AA	uc010rzz.2	-	0	469_470	c.469_470CC>TT	c.(469-471)cca>TTa	p.P157L		NM_001005325	NP_001005325	Q8NGM8	OR6M1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily M, member 1 (OR6M1), mRNA.	157					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(2)|skin(5)|urinary_tract(1)	29		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028)		TACAATGGTTGGAAACAACACA	0.485000														27			18		0	0	0.004672	0	0
SF3A3	10946	broad.mit.edu	37	1	38450406	38450406	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:38450406G>A	uc001cci.3	-	4	473	c.349C>T	c.(349-351)Cga>Tga	p.R117*	SF3A3_uc010oik.2_Nonsense_Mutation_p.R64*	NM_006802	NP_006793	Q12874	SF3A3_HUMAN	Homo sapiens splicing factor 3a, subunit 3, 60kDa (SF3A3), mRNA.	117					nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nuclear speck	nucleic acid binding|protein binding|zinc ion binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|prostate(2)	12	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				GGATTCTCTCGAGCCTTCAGG	0.423000														64			20		0	0	0.001523	0	0
TTN	7273	broad.mit.edu	37	2	179641997	179641997	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:179641997C>A	uc021vsy.1	-	26	4918	c.4693G>T	c.(4693-4695)Gtc>Ttc	p.V1565F	TTN_uc021vsz.1_Missense_Mutation_p.V1519F|TTN_uc021vta.1_Missense_Mutation_p.V1519F|TTN_uc021vtb.1_Missense_Mutation_p.V1519F|TTN_uc002unb.2_Missense_Mutation_p.V1565F|AK123298_uc002unc.1_Non-coding_Transcript	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	1565	Ig-like 7.						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)			TTTATATTGACATTTTTCAGT	0.398000														49			27		7.92952e-12	9.61947e-12	0.003954	1	0
C1orf127	148345	broad.mit.edu	37	1	11008769	11008769	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:11008769G>A	uc010oao.2	-	11	1423	c.1423C>T	c.(1423-1425)Cac>Tac	p.H475Y	C1orf127_uc001ars.2_Missense_Mutation_p.H310Y|C1orf127_uc001arr.2_Missense_Mutation_p.H318Y	NM_001170754	NP_001164225	B7ZLG7	B7ZLG7_HUMAN	Homo sapiens chromosome 1 open reading frame 127 (C1orf127), mRNA.	326										NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5)	32	Ovarian(185;0.249)	Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509)		GGTGTGGGGTGTCCAGGGATC	0.667000														18			21		0	0	0.001882	0	0
FLJ00285	0	broad.mit.edu	37	16	15224540	15224540	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:15224540G>A	uc002ddh.2	-	1	733	c.341C>T	c.(340-342)tCc>tTc	p.S114F	PDXDC1_uc002ddc.3_Intron|FLJ00285_uc010uzs.1_Non-coding_Transcript|FLJ00285_uc002ddi.3_5'UTR|FLJ00285_uc010uzt.2_Missense_Mutation_p.S114F					RecName: Full=GPS, PLAT and transmembrane domain-containing protein FLJ00285;																		ACCCTGGAGGGACTCTGGGCG	0.672000														18			8		0	0	0.003080	0	0
PROCR	10544	broad.mit.edu	37	20	33764058	33764058	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr20:33764058G>A	uc002xbt.3	+	2	594	c.410G>A	c.(409-411)gGg>gAg	p.G137E	EDEM2_uc010zuv.1_Intron	NM_006404	NP_006395	Q9UNN8	EPCR_HUMAN	Homo sapiens protein C receptor, endothelial (PROCR), mRNA.	137					antigen processing and presentation|blood coagulation|immune response	MHC class I protein complex|integral to plasma membrane	receptor activity			breast(1)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10			BRCA - Breast invasive adenocarcinoma(18;0.0152)		Drotrecogin alfa(DB00055)	GCTGTGAATGGGAGCTCCTTT	0.597000														61			43		0	0	0.002222	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140764100	140764100	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:140764100A>G	uc003lka.2	+	0	1634	c.1634A>G	c.(1633-1635)aAc>aGc	p.N545S	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_uc003ljz.1_Missense_Mutation_p.N545S	NM_018920	NP_061743	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 7 (PCDHGA7), transcript variant 1, mRNA.	547	Cadherin 5.				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)			CTCAGCAGCAACATGTCACTG	0.562000														32			13		0	0	0.001855	0	0
PPP4R4	57718	broad.mit.edu	37	14	94700975	94700975	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:94700975C>T	uc001ycs.1	+	6	854	c.700C>T	c.(700-702)Cgg>Tgg	p.R234W		NM_058237	NP_478144	Q6NUP7	PP4R4_HUMAN	Homo sapiens protein phosphatase 4, regulatory subunit 4 (PPP4R4), transcript variant 1, mRNA.	234						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						TTGTATGTGTCGGCAATTAGA	0.383000														44			19		0	0	0.001882	0	0
FSCB	84075	broad.mit.edu	37	14	44975513	44975513	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:44975513G>A	uc001wvn.3	-	0	987	c.678C>T	c.(676-678)ccC>ccT	p.P226P		NM_032135	NP_115511	Q5H9T9	FSCB_HUMAN	Homo sapiens fibrous sheath CABYR binding protein (FSCB), mRNA.	226						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)		AAAGTACCGGGGGACCTTTTT	0.408000														57			38		0	0	0.006230	0	0
OR4M2	390538	broad.mit.edu	37	15	22369027	22369027	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:22369027G>A	uc010tzu.2	+	0	550	c.452G>A	c.(451-453)gGg>gAg	p.G151E	abParts_uc001yuj.2_Intron|OR4N4_uc001yua.3_Non-coding_Transcript|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.	151					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R150M(2)|p.R150W(1)		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)		TCCTGGAGGGGGGGCTTCATT	0.498000														289			19		0	0	0.006122	0	0
immunoglobulin_heavy_chain	0	broad.mit.edu	37	14	107034826	107034826	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:107034826C>A	uc001ysz.3	-	1	283	c.254G>T	c.(253-255)gGc>gTc	p.G85V	abParts_uc021ser.1_Non-coding_Transcript					Human CLL-12 transcript of unrearranged immunoglobulin V(H)5 gene.																		GGTGACCTGGCCTTGGAAGGA	0.597000														30			70		5.16434e-52	6.30469e-52	0.003610	1	0
OGFOD2	79676	broad.mit.edu	37	12	123463551	123463551	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:123463551C>T	uc001uea.1	+	5	804	c.783C>T	c.(781-783)ctC>ctT	p.L261L	OGFOD2_uc001uds.1_Silent_p.L97L|OGFOD2_uc001udv.1_Silent_p.L97L|OGFOD2_uc001udt.1_Silent_p.L97L|OGFOD2_uc001udu.1_Silent_p.L97L|OGFOD2_uc009zxs.1_Silent_p.L97L|OGFOD2_uc001udw.1_Silent_p.L97L|OGFOD2_uc001udy.1_Silent_p.L97L|OGFOD2_uc001udz.1_Silent_p.L201L|OGFOD2_uc001ueb.1_Silent_p.L97L|ARL6IP4_uc001uec.3_5'Flank|ARL6IP4_uc001ued.3_5'Flank|ARL6IP4_uc001uee.3_5'Flank|ARL6IP4_uc001uef.3_5'Flank|ARL6IP4_uc001ueg.3_5'Flank|ARL6IP4_uc009zxt.3_5'Flank|ARL6IP4_uc001uei.3_5'Flank	NM_024623	NP_078899	Q6N063	OGFD2_HUMAN	Homo sapiens 2-oxoglutarate and iron-dependent oxygenase domain containing 2 (OGFOD2), mRNA.	261	Fe2OG dioxygenase.						L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(1)|endometrium(2)|lung(4)|pancreas(1)	8	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.11e-05)|Epithelial(86;0.000127)|BRCA - Breast invasive adenocarcinoma(302;0.107)	Vitamin C(DB00126)	TTGGGGGCCTCTTCCAGGTGA	0.637000														36			20		0	0	0.001523	0	0
AMT	275	broad.mit.edu	37	3	49455266	49455266	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:49455266C>T	uc003cww.3	-	7	1246	c.1018G>A	c.(1018-1020)Gag>Aag	p.E340K	AMT_uc011bcn.2_Intron|AMT_uc003cwx.3_Missense_Mutation_p.E340K|AMT_uc011bco.2_Missense_Mutation_p.E296K|AMT_uc003cwy.3_Missense_Mutation_p.E292K|AMT_uc011bcq.2_Missense_Mutation_p.E284K|AMT_uc011bcp.2_Missense_Mutation_p.E243K	NM_000481	NP_000472	P48728	GCST_HUMAN	Homo sapiens aminomethyltransferase (AMT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	340					glycine catabolic process	mitochondrion	aminomethyltransferase activity|transaminase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	NADH(DB00157)|Tetrahydrofolic acid(DB00116)	TTGGTACCCTCCATGTTCAGG	0.622000														52			22		0	0	0.002299	0	0
NFX1	4799	broad.mit.edu	37	9	33295248	33295248	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:33295248C>T	uc003zsr.3	+	1	1009	c.856C>T	c.(856-858)Ctc>Ttc	p.L286F	NFX1_uc011lnw.2_Missense_Mutation_p.L286F|NFX1_uc003zso.3_Missense_Mutation_p.L286F|NFX1_uc003zsp.2_Missense_Mutation_p.L286F|NFX1_uc010mjr.2_Missense_Mutation_p.L286F|NFX1_uc003zsq.3_Missense_Mutation_p.L286F	NM_002504	NP_002495	Q12986	NFX1_HUMAN	Homo sapiens nuclear transcription factor, X-box binding 1 (NFX1), transcript variant 1, mRNA.	286					inflammatory response|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|ligase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25			LUSC - Lung squamous cell carcinoma(29;0.00506)	GBM - Glioblastoma multiforme(74;0.224)		AAAGGATGACCTCAATGAAAG	0.512000														46			11		0	0	0.001368	0	0
POLE	5426	broad.mit.edu	37	12	133202801	133202802	+	Nonsense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:133202801_133202802GG>AA	uc001uks.1	-	45	6476_6477	c.6432_6433CC>TT	c.(6430-6435)ttccga>ttTTga	p.R2145*	POLE_uc001ukq.1_Nonsense_Mutation_p.R355*|POLE_uc001ukr.1_Nonsense_Mutation_p.R949*|POLE_uc010tbq.1_Non-coding_Transcript	NM_006231	NP_006222	Q07864	DPOE1_HUMAN	Homo sapiens polymerase (DNA directed), epsilon (POLE), mRNA.	2145					DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	DNA binding|DNA-directed DNA polymerase activity|chromatin binding|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		CAGGGGTCTCGGAACTGGGCCT	0.579000								DNA polymerases (catalytic subunits)						20			10		0	0	0.004672	0	0
ZDHHC3	51304	broad.mit.edu	37	3	45000623	45000623	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:45000623G>A	uc003cod.3	-	2	580	c.306_splice	c.e2+1	p.P102_splice	ZDHHC3_uc003cog.3_Splice_Site_p.P102_splice	NM_016598	NP_057682	Q9NYG2	ZDHC3_HUMAN	Homo sapiens zinc finger, DHHC-type containing 3 (ZDHHC3), transcript variant 2, mRNA.	102						Golgi membrane|integral to membrane	zinc ion binding	p.P102P(1)		endometrium(1)|large_intestine(3)|lung(4)	8				BRCA - Breast invasive adenocarcinoma(193;0.00943)|KIRC - Kidney renal clear cell carcinoma(197;0.053)|Kidney(197;0.0665)		ACATACTCACGGGGTCCGTCA	0.582000														56			42		0	0	0.002522	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140764876	140764876	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:140764876C>T	uc003lka.2	+	0	2410	c.2410C>T	c.(2410-2412)Ctg>Ttg	p.L804L	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_uc003lkb.4_5'Flank|PCDHGC5_uc003lkc.2_5'Flank|PCDHGC5_uc003ljz.1_Silent_p.L804L	NM_018920	NP_061743	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 7 (PCDHGA7), transcript variant 1, mRNA.	814					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)			TAAAGAAAACCTGCCAAGTAT	0.383000														24			14		0	0	0.001855	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144854639	144854639	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:144854639C>T	uc021ouh.1	-	41	7133	c.6831G>A	c.(6829-6831)agG>agA	p.R2277R	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron|PDE4DIP_uc001elw.4_Silent_p.R2277R|PDE4DIP_uc001elx.4_Silent_p.R2171R|PDE4DIP_uc001elv.4_Silent_p.R1284R	NM_001198834	NP_001185763	Q5VU43	MYOME_HUMAN	Homo sapiens phosphodiesterase 4D interacting protein (PDE4DIP), transcript variant 9, mRNA.	2277					cellular protein complex assembly	Golgi apparatus|centrosome|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CCAGAAGTTCCCTTTCTGTTG	0.483000			T	PDGFRB	MPD									182			25		0	0	0.005443	0	0
SOHLH1	402381	broad.mit.edu	37	9	138589364	138589364	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:138589364G>A	uc010nbe.3	-	3	516	c.455C>T	c.(454-456)tCc>tTc	p.S152F	SOHLH1_uc004cgl.3_Missense_Mutation_p.S152F	NM_001101677	NP_001095147	Q5JUK2	SOLH1_HUMAN	Homo sapiens spermatogenesis and oogenesis specific basic helix-loop-helix 1 (SOHLH1), transcript variant 1, mRNA.	152					cell differentiation|multicellular organismal development|oogenesis|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(5)|prostate(1)	12		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.66e-07)|Epithelial(140;1.11e-06)|all cancers(34;6.45e-05)		AGTCCCGCTGGACGCTCCCGT	0.617000														25			10		0	0	0.008291	0	0
OR13C9	286362	broad.mit.edu	37	9	107379931	107379931	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:107379931C>T	uc011lvr.2	-	0	555	c.555G>A	c.(553-555)atG>atA	p.M185I		NM_001001956	NP_001001956	Q8NGT0	O13C9_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 9 (OR13C9), mRNA.	185					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(6)|lung(9)|prostate(1)|skin(4)	22						AGGCCAACTTCATGACAGCTA	0.408000														46			24		0	0	0.002299	0	0
SLC26A9	115019	broad.mit.edu	37	1	205899084	205899084	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:205899084G>A	uc001hdp.3	-	5	767	c.653C>T	c.(652-654)tCg>tTg	p.S218L	SLC26A9_uc001hdo.3_5'Flank|SLC26A9_uc001hdq.3_Missense_Mutation_p.S218L	NM_134325	NP_599152	Q7LBE3	S26A9_HUMAN	Homo sapiens solute carrier family 26, member 9 (SLC26A9), transcript variant 2, mRNA.	218						integral to membrane	chloride channel activity|secondary active sulfate transmembrane transporter activity	p.S218L(3)		NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			CTTGAGCACCGAAATCAGGAT	0.582000														20			16		0	0	0.007413	0	0
ASXL2	55252	broad.mit.edu	37	2	25972977	25972977	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:25972977G>A	uc002rgs.2	-	10	1669	c.1448C>T	c.(1447-1449)cCa>cTa	p.P483L	ASXL2_uc002rgt.1_Missense_Mutation_p.P223L	NM_018263	NP_060733	Q76L83	ASXL2_HUMAN	Homo sapiens additional sex combs like 2 (Drosophila) (ASXL2), mRNA.	483					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTCATCCTTTGGGCACTTGAT	0.473000														125			65		0	0	0.003610	0	0
MED18	54797	broad.mit.edu	37	1	28661301	28661301	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:28661301C>T	uc021okc.1	+	2	713	c.468C>T	c.(466-468)ttC>ttT	p.F156F	MED18_uc001bpt.4_Silent_p.F149F|MED18_uc009vtg.3_Silent_p.F149F	NM_017638	NP_060108	Q9BUE0	MED18_HUMAN	Homo sapiens mediator complex subunit 18 (MED18), transcript variant 1, mRNA.	149					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex	identical protein binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7		Colorectal(325;0.000147)|Lung NSC(340;0.000818)|all_lung(284;0.000996)|Renal(390;0.00357)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0557)|Ovarian(437;0.113)		OV - Ovarian serous cystadenocarcinoma(117;2.36e-22)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0141)|READ - Rectum adenocarcinoma(331;0.0649)		ACAAGATTTTCCGCATCCTGG	0.498000														50			19		0	0	0.008871	0	0
PFKL	5211	broad.mit.edu	37	21	45733006	45733006	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr21:45733006C>T	uc002zek.3	+	7	1115	c.714C>T	c.(712-714)gcC>gcT	p.A238A	PFKL_uc002zel.3_Silent_p.A191A|PFKL_uc011afd.1_Silent_p.A238A			P17858	K6PL_HUMAN	Homo sapiens phosphofructokinase, liver (PFKL), transcript variant 1, non-coding RNA.	191					fructose 6-phosphate metabolic process|glycolysis|protein oligomerization	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|fructose-6-phosphate binding|identical protein binding|kinase binding|metal ion binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	23				Colorectal(79;0.0811)		TCATCGATGCCATCACCACCA	0.677000														22			24		0	0	0.003954	0	0
MAPRE1	22919	broad.mit.edu	37	20	31421626	31421626	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr20:31421626C>T	uc002wyh.3	+	2	364	c.225C>T	c.(223-225)ttC>ttT	p.F75F		NM_012325	NP_036457	Q15691	MARE1_HUMAN	Homo sapiens microtubule-associated protein, RP/EB family, member 1 (MAPRE1), mRNA.	75	CH.				G2/M transition of mitotic cell cycle|cell division|cell proliferation|mitotic prometaphase|negative regulation of microtubule polymerization|protein localization to microtubule	centrosome|cortical microtubule cytoskeleton|cytosol	microtubule plus-end binding|protein C-terminus binding			endometrium(2)|large_intestine(1)|lung(3)|prostate(2)	8						TCCAGAACTTCAAAATACTAC	0.383000														72			50		0	0	0.003610	0	0
OR4C12	283093	broad.mit.edu	37	11	50003823	50003823	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:50003823G>A	uc010ria.2	-	0	249	c.215C>T	c.(214-216)tCt>tTt	p.S72F		NM_001005270	NP_001005270	Q96R67	OR4CC_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 12 (OR4C12), mRNA.	72					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	36						TGAAGAAGAAGAATAAACTGT	0.438000														47			21		0	0	0.008871	0	0
GALNT10	55568	broad.mit.edu	37	5	153792531	153792531	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:153792531G>A	uc003lvh.3	+	9	1601	c.1469G>A	c.(1468-1470)cGa>cAa	p.R490Q	GALNT10_uc010jic.3_Non-coding_Transcript|GALNT10_uc010jid.3_Missense_Mutation_p.R331Q|FLJ38109_uc003lvi.3_Intron	NM_198321	NP_938080	Q86SR1	GLT10_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10) (GALNT10), mRNA.	490	Ricin B-type lectin.					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	32	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			GGCTGCGTCCGAGGCCGTGGG	0.622000														26			8		0	0	0.003080	0	0
PTBP1	5725	broad.mit.edu	37	19	808653	808653	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:808653C>T	uc002lpr.2	+	11	1382	c.1276C>T	c.(1276-1278)Ctg>Ttg	p.L426L	PTBP1_uc002lps.2_Silent_p.L92L|PTBP1_uc002lpp.2_Silent_p.L452L|PTBP1_uc002lpq.2_Silent_p.L445L	NM_031991	NP_114368	P26599	PTBP1_HUMAN	Homo sapiens polypyrimidine tract binding protein 1 (PTBP1), transcript variant 3, mRNA.	426					negative regulation of muscle cell differentiation|nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome	heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	mRNA binding|nucleotide binding|poly-pyrimidine tract binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)	19		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;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		GGACCAGGGCCTGACCAAGGA	0.642000														13			6		0	0	0.003080	0	0
RPGRIP1	57096	broad.mit.edu	37	14	21793014	21793014	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:21793014C>T	uc001wag.3	+	13	2000	c.2000C>T	c.(1999-2001)cCa>cTa	p.P667L	RPGRIP1_uc001wah.3_Missense_Mutation_p.P309L|RPGRIP1_uc001wai.3_Intron|RPGRIP1_uc001waj.1_Missense_Mutation_p.P132L|RPGRIP1_uc001wak.3_Missense_Mutation_p.P142L|RPGRIP1_uc010aim.3_Missense_Mutation_p.P50L|RPGRIP1_uc001wal.3_Intron|RPGRIP1_uc001wam.3_5'UTR	NM_020366	NP_065099	Q96KN7	RPGR1_HUMAN	Homo sapiens retinitis pigmentosa GTPase regulator interacting protein 1 (RPGRIP1), mRNA.	667					response to stimulus|visual perception	cilium				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		CACTGTACCCCATTATCTGTG	0.522000														126			37		0	0	0.006999	0	0
SCNN1A	6337	broad.mit.edu	37	12	6457279	6457279	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:6457279G>A	uc001qnw.3	-	11	2211	c.1947C>T	c.(1945-1947)agC>agT	p.S649S	SCNN1A_uc001qnv.3_Silent_p.S290S|SCNN1A_uc001qnx.3_Silent_p.S590S|SCNN1A_uc010sfb.2_Silent_p.S613S	NM_001159576	NP_001029	P37088	SCNNA_HUMAN	Homo sapiens sodium channel, nonvoltage-gated 1 alpha (SCNN1A), transcript variant 2, mRNA.	590					excretion|response to stimulus|sensory perception of taste	apical plasma membrane	WW domain binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(2)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Amiloride(DB00594)|Triamterene(DB00384)	ACCAGTATCGGCTTCGGAACC	0.617000														18			8		0	0	0.003080	0	0
PLIN3	10226	broad.mit.edu	37	19	4844713	4844713	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:4844713G>A	uc002mbj.2	-	6	1104	c.927C>T	c.(925-927)ctC>ctT	p.L309L	PLIN3_uc002mbk.2_Silent_p.L297L|PLIN3_uc002mbl.3_Silent_p.L309L	NM_005817	NP_005808	O60664	PLIN3_HUMAN	Homo sapiens perilipin 3 (PLIN3), transcript variant 1, mRNA.	309					vesicle-mediated transport	Golgi apparatus|endosome membrane|lipid particle	protein binding			cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	9					Galsulfase(DB01279)|Idursulfase(DB01271)	CGGGGCCCTGGAGCTGCTTCT	0.607000														11			4		0	0	0.000248	0	0
TOP3A	7156	broad.mit.edu	37	17	18196105	18196105	+	Silent	SNP	A	G	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:18196105A>G	uc002gsx.1	-	10	1364	c.1135T>C	c.(1135-1137)Ttg>Ctg	p.L379L	TOP3A_uc010cpz.1_5'Flank|TOP3A_uc010vxr.1_Intron|TOP3A_uc002gsw.1_Intron|TOP3A_uc010vxs.1_Silent_p.L277L	NM_004618	NP_004609	Q13472	TOP3A_HUMAN	Homo sapiens topoisomerase (DNA) III alpha (TOP3A), mRNA.	379					DNA topological change|meiosis	PML body|chromosome	ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1)	36						TGTTCCACCAACACCGTCAGG	0.512000														48			15		0	0	0.004007	0	0
RGS3	5998	broad.mit.edu	37	9	116345827	116345827	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:116345827C>T	uc004bhq.3	+	20	2344	c.2135C>T	c.(2134-2136)cCt>cTt	p.P712L	RGS3_uc004bhs.3_Missense_Mutation_p.P602L|RGS3_uc004bht.3_Missense_Mutation_p.P431L|RGS3_uc010muy.3_Intron|RGS3_uc004bhv.3_Missense_Mutation_p.P33L|RGS3_uc010muz.1_Missense_Mutation_p.P51L|RGS3_uc004bhw.3_Intron|RGS3_uc011lxh.2_Missense_Mutation_p.P33L|RGS3_uc004bhx.3_Missense_Mutation_p.P33L|RGS3_uc004bhy.1_Missense_Mutation_p.P22L|RGS3_uc004bhz.3_Missense_Mutation_p.P54L	NM_144488	NP_652759	P49796	RGS3_HUMAN	Homo sapiens regulator of G-protein signaling 3 (RGS3), transcript variant 6, mRNA.	712	Pro-rich.				inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						GAGCCCTCTCCTGGCCAGGAG	0.607000														34			19		0	0	0.008871	0	0
FAM47A	158724	broad.mit.edu	37	X	34149421	34149421	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chrX:34149421G>A	uc004ddg.3	-	0	1027	c.975C>T	c.(973-975)ctC>ctT	p.L325L		NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN	Homo sapiens family with sequence similarity 47, member A (FAM47A), mRNA.	325										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						GCTCCGGGCGGAGACTGGACA	0.617000														1			5		0	0	0.000602	0	0
SAA3P	6290	broad.mit.edu	37	11	18134184	18134184	+	RNA	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:18134184C>T	uc001mnt.3	-	2		c.477G>A								Homo sapiens serum amyloid A3 pseudogene (SAA3P), non-coding RNA.											lung(2)	2						TCTGGCAGGCCAGCAGGTCGG	0.552000														17			4		0	0	0.000248	0	0
GPR174	84636	broad.mit.edu	37	X	78427255	78427255	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chrX:78427255C>T	uc004edg.1	+	0	787	c.751C>T	c.(751-753)Cct>Tct	p.P251S		NM_032553	NP_115942	Q9BXC1	GP174_HUMAN	Homo sapiens G protein-coupled receptor 174 (GPR174), mRNA.	251						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						TTTCAGTTTTCCTTTAGATTT	0.403000										HNSCC(63;0.18)				18			17		0	0	0.004990	0	0
FAM5B	57795	broad.mit.edu	37	1	177247850	177247851	+	Missense_Mutation	DNP	GA	AG	AG			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:177247850_177247851GA>AG	uc001glf.3	+	6	1476_1477	c.1164_1165GA>AG	c.(1162-1167)cggatc>cgAGtc	p.I389V	FAM5B_uc010pna.1_Missense_Mutation_p.I139V|FAM5B_uc001glg.3_Missense_Mutation_p.I284V	NM_021165	NP_066988	Q9C0B6	FAM5B_HUMAN	Homo sapiens family with sequence similarity 5, member B (FAM5B), mRNA.	389						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						AGACCCATCGGATCCTACGCCG	0.614000														63			10		0	0	0.004672	0	0
RAI1	10743	broad.mit.edu	37	17	17700174	17700174	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:17700174C>T	uc002grm.3	+	2	4381	c.3912C>T	c.(3910-3912)ctC>ctT	p.L1304L	RAI1_uc002grn.1_Silent_p.L1304L	NM_030665	NP_109590	Q7Z5J4	RAI1_HUMAN	Homo sapiens retinoic acid induced 1 (RAI1), mRNA.	1304						cytoplasm|nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		GCCTCAAGCTCGCCTCTCGGG	0.642000														54			14		0	0	0.001855	0	0
OR13D1	286365	broad.mit.edu	37	9	107457338	107457338	+	Silent	SNP	A	G	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:107457338A>G	uc011lvs.2	+	0	636	c.636A>G	c.(634-636)gaA>gaG	p.E212E		NM_001004484	NP_001004484	Q8NGV5	O13D1_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily D, member 1 (OR13D1), mRNA.	212					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(4)|lung(10)|ovary(1)|prostate(2)|skin(2)	19						TTACCTGTGAAATTTTGGCCC	0.383000														101			51		0	0	0.003610	0	0
IKBKAP	8518	broad.mit.edu	37	9	111665163	111665163	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:111665163G>A	uc004bdm.4	-	15	2330	c.1810C>T	c.(1810-1812)Cct>Tct	p.P604S	IKBKAP_uc004bdl.3_Missense_Mutation_p.P255S|IKBKAP_uc011lwc.2_Missense_Mutation_p.P490S|IKBKAP_uc010mtq.3_Missense_Mutation_p.P255S	NM_003640	NP_003631	O95163	ELP1_HUMAN	Homo sapiens inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein (IKBKAP), mRNA.	604					immune response|protein complex assembly|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	DNA-directed RNA polymerase II, holoenzyme|cytoplasm|nucleolus|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding|signal transducer activity			NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						CATGGATAAGGAAACCGAACA	0.463000														53			15		0	0	0.007413	0	0
RAD21	5885	broad.mit.edu	37	8	117861238	117861238	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:117861238G>A	uc003yod.3	-	12	1939	c.1651C>T	c.(1651-1653)Cag>Tag	p.Q551*		NM_006265	NP_006256	O60216	RAD21_HUMAN	Homo sapiens RAD21 homolog (S. pombe) (RAD21), mRNA.	551					apoptosis|cell division|chromosome segregation|double-strand break repair|mitotic metaphase/anaphase transition|mitotic prometaphase|protein localization to chromatin|reciprocal meiotic recombination|regulation of transcription from RNA polymerase II promoter	chromosome, centromeric region|cohesin complex|nuclear chromosome|nucleoplasm	protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|stomach(1)	32	all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172)					CTTTCTTCCTGATCTTGATCG	0.413000														113			51		0	0	0.003610	0	0
ADD3	120	broad.mit.edu	37	10	111881987	111881987	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:111881987C>T	uc001kyu.3	+	8	1236	c.1080C>T	c.(1078-1080)tcC>tcT	p.S360S	ADD3_uc001kyt.4_Silent_p.S360S|ADD3_uc001kys.4_Silent_p.S360S|ADD3_uc001kyv.3_Silent_p.S360S|ADD3_uc001kyw.3_Silent_p.S360S|ADD3_uc001kyx.3_5'Flank	NM_016824	NP_058432	Q9UEY8	ADDG_HUMAN	Homo sapiens adducin 3 (gamma) (ADD3), transcript variant 1, mRNA.	360						cytoskeleton	actin binding|calmodulin binding|metal ion binding|structural constituent of cytoskeleton			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	29		Breast(234;0.052)|Lung NSC(174;0.223)		Epithelial(162;4.15e-05)|all cancers(201;0.000587)|BRCA - Breast invasive adenocarcinoma(275;0.0742)		ATATGGGTTCCCATCAAAAAT	0.423000														47			22		0	0	0.002780	0	0
B3GNT2	10678	broad.mit.edu	37	2	62449926	62449926	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:62449926C>T	uc021vii.1	+	0	571	c.571C>T	c.(571-573)Cac>Tac	p.H191Y	B3GNT2_uc002sbs.3_Missense_Mutation_p.H191Y	NM_006577	NP_006568	Q9NY97	B3GN2_HUMAN	Homo sapiens UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2 (B3GNT2), mRNA.	191						Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)	18	Lung NSC(7;0.031)|all_lung(7;0.0634)		LUSC - Lung squamous cell carcinoma(7;3.55e-06)|Epithelial(17;0.0963)			AGAGGACAACCACCCCGACCT	0.512000														34			22		0	0	0.002299	0	0
SLC17A4	10050	broad.mit.edu	37	6	25777085	25777085	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:25777085G>A	uc003nfe.3	+	9	1285	c.1166G>A	c.(1165-1167)aGa>aAa	p.R389K	SLC17A4_uc011djx.2_Missense_Mutation_p.R159K|SLC17A4_uc003nff.1_Missense_Mutation_p.R178K|SLC17A4_uc003nfg.3_Missense_Mutation_p.R326K|SLC17A4_uc010jqa.3_Intron	NM_005495	NP_005486	Q9Y2C5	S17A4_HUMAN	Homo sapiens solute carrier family 17 (sodium phosphate), member 4 (SLC17A4), mRNA.	389					phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity			breast(4)|endometrium(1)|kidney(4)|large_intestine(3)|lung(21)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CCCTGGGTCAGATCCAGCCAC	0.537000														59			24		0	0	0.004656	0	0
SCN11A	11280	broad.mit.edu	37	3	38889074	38889074	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:38889074G>A	uc021wvy.1	-	25	4686	c.4487C>T	c.(4486-4488)tCt>tTt	p.S1496F		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	1496					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)	GTTGAACAGAGAAGGAAGCGA	0.468000														15			25		0	0	0.004656	0	0
TNS1	7145	broad.mit.edu	37	2	218682684	218682684	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:218682684G>A	uc002vgt.2	-	23	4457	c.4059C>T	c.(4057-4059)ttC>ttT	p.F1353F	TNS1_uc002vgr.2_Silent_p.F1340F|TNS1_uc002vgs.2_Silent_p.F1332F|TNS1_uc010zjv.1_Silent_p.F1332F	NM_022648	NP_072174	Q9HBL0	TENS1_HUMAN	Homo sapiens tensin 1 (TNS1), mRNA.	1353						cytoplasm|cytoskeleton|focal adhesion	actin binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		GGGAGACAGGGAAGGAGGGCG	0.652000														8			4		0	0	0.000602	0	0
RACGAP1P	83956	broad.mit.edu	37	12	45458502	45458502	+	RNA	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:45458502C>T	uc001rol.3	-	0		c.693G>A								Homo sapiens Rac GTPase activating protein 1 pseudogene (RACGAP1P), non-coding RNA.																		ACTATGGATTCATTCCCCCTG	0.507000														13			10		0	0	0.006214	0	0
THBS2	7058	broad.mit.edu	37	6	169632808	169632808	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:169632808C>T	uc003qwt.3	-	12	2131	c.1883G>A	c.(1882-1884)gGg>gAg	p.G628E		NM_003247	NP_003238	P35442	TSP2_HUMAN	Homo sapiens thrombospondin 2 (THBS2), mRNA.	628	EGF-like 2; calcium-binding (Potential).				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		GGGCTGGTTCCCTCTGTATCG	0.622000														46			12		0	0	0.001855	0	0
PSMD1	5707	broad.mit.edu	37	2	231937110	231937110	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:231937110C>T	uc002vrn.2	+	6	1024	c.862C>T	c.(862-864)Ccg>Tcg	p.P288S	PSMD1_uc002vrm.2_Missense_Mutation_p.P288S|PSMD1_uc010fxu.2_Missense_Mutation_p.P152S	NM_002807	NP_002798	Q99460	PSMD1_HUMAN	Homo sapiens proteasome (prosome, macropain) 26S subunit, non-ATPase, 1 (PSMD1), transcript variant 1, mRNA.	288					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding	p.P288Q(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)	31		Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168)	Bortezomib(DB00188)	GGGTACTGTTCCGGGATCAGA	0.398000														73			33		0	0	0.002445	0	0
FLG	2312	broad.mit.edu	37	1	152277329	152277329	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:152277329C>T	uc001ezu.1	-	2	10069	c.10033G>A	c.(10033-10035)Gga>Aga	p.G3345R		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	3345	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.E3344D(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCTGAATGTCCCTCACTATCA	0.587000									Ichthyosis					254			66		0	0	0.003610	0	0
C10orf68	79741	broad.mit.edu	37	10	32978001	32978001	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:32978001G>A	uc001iwm.1	+	3	453	c.217G>A	c.(217-219)Gaa>Aaa	p.E73K	C10orf68_uc001iwl.1_Missense_Mutation_p.E67K|C10orf68_uc001iwn.4_Missense_Mutation_p.E59K|C10orf68_uc010qei.1_5'UTR	NM_024688	NP_078964	Q9H943	CJ068_HUMAN	Homo sapiens chromosome 10 open reading frame 68 (C10orf68), mRNA.	59										breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(4)	29						AGAACCAAATGAAAATCTTAT	0.308000														49			13		0	0	0.001855	0	0
KDM5B	10765	broad.mit.edu	37	1	202710703	202710703	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:202710703G>A	uc009xag.3	-	19	2961	c.2845C>T	c.(2845-2847)Cgt>Tgt	p.R949C	KDM5B_uc001gyf.3_Missense_Mutation_p.R913C|KDM5B_uc001gyg.1_Missense_Mutation_p.R755C	NM_006618	NP_006609	Q9UGL1	KDM5B_HUMAN	Homo sapiens lysine (K)-specific demethylase 5B (KDM5B), mRNA.	913					negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						TGTTCCAAACGGATACGCATC	0.502000														25			14		0	0	0.001855	0	0
STEAP4	79689	broad.mit.edu	37	7	87912034	87912034	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:87912034G>A	uc022agz.1	-	3	1129	c.906C>T	c.(904-906)ttC>ttT	p.F302F	STEAP4_uc003ujs.3_Silent_p.F302F|STEAP4_uc010lek.3_Intron	NM_001205315	NP_001192244	Q687X5	STEA4_HUMAN	Homo sapiens STEAP family member 4 (STEAP4), transcript variant 2, mRNA.	302	Ferric oxidoreductase.				fat cell differentiation|ion transport|iron ion homeostasis	Golgi membrane|integral to membrane|plasma membrane	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(3)	15	Esophageal squamous(14;0.00802)					GGACATGAAGGAAGGCAAATC	0.443000														34			9		0	0	0.006214	0	0
CD1E	913	broad.mit.edu	37	1	158325175	158325175	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:158325175C>T	uc001fse.3	+	2	734	c.441C>T	c.(439-441)ttC>ttT	p.F147F	CD1E_uc010pid.2_Silent_p.F145F|CD1E_uc010pie.2_Silent_p.F48F|CD1E_uc001fsh.3_Intron|CD1E_uc001fry.3_Silent_p.F147F|CD1E_uc001fsf.3_Silent_p.F147F|CD1E_uc001fsg.3_Intron|CD1E_uc009wsv.3_Silent_p.F48F|CD1E_uc001fsj.3_Intron|CD1E_uc001fsk.3_Intron|CD1E_uc001fsa.3_Intron|CD1E_uc001fsd.3_Silent_p.F147F|CD1E_uc001frz.3_Intron|CD1E_uc010pig.2_Intron|CD1E_uc001fsc.3_Intron|CD1E_uc021pbm.1_5'Flank|CD1E_uc009wsw.3_5'Flank	NM_030893	NP_112155	P15812	CD1E_HUMAN	Homo sapiens CD1e molecule (CD1E), transcript variant 1, mRNA.	147					antigen processing and presentation|immune response	Golgi membrane|early endosome|integral to plasma membrane|late endosome|lysosomal lumen		p.D146Y(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					GGTCAGATTTCCTGAGTTTCC	0.468000														81			23		0	0	0.002299	0	0
AKR1B10	57016	broad.mit.edu	37	7	134222961	134222961	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:134222961C>T	uc003vrr.3	+	7	1077	c.757C>T	c.(757-759)Cat>Tat	p.H253Y		NM_020299	NP_064695	O60218	AK1BA_HUMAN	Homo sapiens aldo-keto reductase family 1, member B10 (aldose reductase) (AKR1B10), mRNA.	253					cellular aldehyde metabolic process|digestion|steroid metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|protein binding			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(9)|skin(5)	20						GATCCGTTTCCATATCCAGAG	0.493000														96			35		0	0	0.007835	0	0
TYRO3	7301	broad.mit.edu	37	15	41859680	41859680	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:41859680T>G	uc001zof.2	+	6	1142	c.906T>G	c.(904-906)aaT>aaG	p.N302K		NM_006293	NP_006284	Q06418	TYRO3_HUMAN	Homo sapiens TYRO3 protein tyrosine kinase (TYRO3), mRNA.	302	Fibronectin type-III 1.					integral to plasma membrane	ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1)	43		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)		GCTGTGCCAATGCCTTGGGGC	0.642000														66			19		0	0	0.001523	0	0
CNTROB	116840	broad.mit.edu	37	17	7849193	7849193	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:7849193C>T	uc002gjp.3	+	13	2832	c.1882C>T	c.(1882-1884)Cct>Tct	p.P628S	CNTROB_uc002gjq.3_Missense_Mutation_p.P628S|CNTROB_uc002gjr.3_Missense_Mutation_p.P530S	NM_001037144	NP_001032221	Q8N137	CNTRB_HUMAN	Homo sapiens centrobin, centrosomal BRCA2 interacting protein (CNTROB), transcript variant 2, mRNA.	628	Pro-rich.|Required for centrosome localization.				centriole replication|centrosome separation|cytokinesis	centriole	protein domain specific binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)	25		Prostate(122;0.173)				TGGAGCGCCTCCTGTTCTTTG	0.597000														71			39		0	0	0.008740	0	0
PPEF2	5470	broad.mit.edu	37	4	76781931	76781931	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:76781931G>A	uc003hix.3	-	16	2508	c.2151C>T	c.(2149-2151)ttC>ttT	p.F717F	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.	717	EF-hand 3.				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)			AGGCCTCCAGGAACTCATTGA	0.493000														29			6		0	0	0.001984	0	0
KIAA0586	9786	broad.mit.edu	37	14	58938959	58938959	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:58938959C>T	uc010trr.2	+	19	2999	c.2755C>T	c.(2755-2757)Cca>Tca	p.P919S	KIAA0586_uc001xdu.4_Missense_Mutation_p.P851S|KIAA0586_uc010trs.2_Missense_Mutation_p.P781S|KIAA0586_uc001xdt.4_Missense_Mutation_p.P822S|KIAA0586_uc001xdv.4_Missense_Mutation_p.P790S|KIAA0586_uc010trt.2_Missense_Mutation_p.P726S|KIAA0586_uc010tru.1_Missense_Mutation_p.P726S	NM_001244189	NP_001231118	E9PGW8	E9PGW8_HUMAN	Homo sapiens KIAA0586 (KIAA0586), transcript variant 1, mRNA.	790										endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GGTGAAGTTTCCAGGAACTAA	0.318000														10			9		0	0	0.008291	0	0
CDHR1	92211	broad.mit.edu	37	10	85961648	85961648	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:85961648G>A	uc001kcv.3	+	6	716	c.611G>A	c.(610-612)cGg>cAg	p.R204Q	CDHR1_uc001kcw.3_Missense_Mutation_p.R204Q|CDHR1_uc009xst.3_5'UTR	NM_033100	NP_149091	Q96JP9	CDHR1_HUMAN	Homo sapiens cadherin-related family member 1 (CDHR1), transcript variant 1, mRNA.	204	Cadherin 2.				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						GAGAGGTCCCGGACCCACTAC	0.592000														14			4		0	0	0.000602	0	0
MYO16	23026	broad.mit.edu	37	13	109772717	109772717	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr13:109772717G>A	uc010agk.2	+	29	4061	c.3439_splice	c.e29-1	p.M1147_splice	MYO16_uc001vqt.1_Splice_Site_p.M1125_splice|MYO16_uc010tjh.1_Splice_Site_p.M637_splice	NM_001198950	NP_001185879	Q9Y6X6	MYO16_HUMAN	Homo sapiens myosin XVI (MYO16), transcript variant 1, mRNA.	1125	IQ.				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)			TTGCATTTTAGATGGGAGTCC	0.358000														36			14		0	0	0.002450	0	0
DUSP12	11266	broad.mit.edu	37	1	161722226	161722226	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:161722226G>A	uc001gbo.3	+	3	657	c.646G>A	c.(646-648)Gag>Aag	p.E216K		NM_007240	NP_009171	Q9UNI6	DUS12_HUMAN	Homo sapiens dual specificity phosphatase 12 (DUSP12), mRNA.	216					positive regulation of glucokinase activity	cytoplasm|nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|lung(1)	5	all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00634)			ATTGAAAGATGAGGTTCTCTA	0.308000														164			68		0	0	0.003610	0	0
RFXANK	8625	broad.mit.edu	37	19	19307806	19307806	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:19307806C>T	uc002nls.3	+	3	727	c.222C>T	c.(220-222)acC>acT	p.T74T	RFXANK_uc002nlt.3_Silent_p.T73T|RFXANK_uc002nlu.3_Silent_p.T74T|RFXANK_uc002nlv.3_Silent_p.T74T|RFXANK_uc021uqt.1_Silent_p.T73T	NM_003721	NP_003712	O14593	RFXK_HUMAN	Homo sapiens regulatory factor X-associated ankyrin-containing protein (RFXANK), transcript variant 1, mRNA.	74						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			NS(1)|breast(1)|endometrium(1)|lung(8)|ovary(2)|prostate(1)	14			Epithelial(12;0.00228)			CCACTCTCACCAACCGGCAGC	0.612000														56			14		0	0	0.001855	0	0
MYH3	4621	broad.mit.edu	37	17	10535964	10535964	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:10535964C>T	uc002gmq.2	-	33	4873	c.4785G>A	c.(4783-4785)gtG>gtA	p.V1595V		NM_002470	NP_002461	P11055	MYH3_HUMAN	Homo sapiens myosin, heavy chain 3, skeletal muscle, embryonic (MYH3), mRNA.	1595					muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						GCATGGTTTCCACTGTTCTCT	0.507000														148			76		0	0	0.003610	0	0
RP1L1	94137	broad.mit.edu	37	8	10470338	10470338	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:10470338T>C	uc003wtc.3	-	3	1499	c.1270A>G	c.(1270-1272)Aag>Gag	p.K424E		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA.	424					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)		CCCCACCTCTTCCGAGCTGCC	0.662000														25			16		0	0	0.006122	0	0
KY	339855	broad.mit.edu	37	3	134327570	134327570	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:134327570C>T	uc010hty.3	-	9	1073	c.1011G>A	c.(1009-1011)gaG>gaA	p.E337E	KY_uc011blw.2_Intron|KY_uc011blx.2_Silent_p.E316E|KY_uc003eqr.1_Silent_p.E103E	NM_178554	NP_848649	Q8NBH2	KY_HUMAN	Homo sapiens kyphoscoliosis peptidase (KY), mRNA.	337						Z disc|cytoskeleton	peptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|lung(12)|ovary(2)|upper_aerodigestive_tract(2)	21						ACATGTTGTTCTCAAACTGCC	0.507000														66			27		0	0	0.005443	0	0
SPAG16	79582	broad.mit.edu	37	2	214878736	214878736	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:214878736C>T	uc002veq.3	+	12	1554	c.1462C>T	c.(1462-1464)Cct>Tct	p.P488S	SPAG16_uc010fuz.2_Missense_Mutation_p.P339S|SPAG16_uc002ver.3_Missense_Mutation_p.P434S|SPAG16_uc010zjk.2_Missense_Mutation_p.P394S	NM_024532	NP_078808	Q8N0X2	SPG16_HUMAN	Homo sapiens sperm associated antigen 16 (SPAG16), transcript variant 1, mRNA.	488					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)		TGAGTTTTTTCCTTTCTCCAA	0.363000														87			25		0	0	0.004656	0	0
SOX10	6663	broad.mit.edu	37	22	38373993	38373993	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr22:38373993C>T	uc003aun.1	-	2	856	c.578G>A	c.(577-579)gGg>gAg	p.G193E	AK098727_uc003aum.3_Intron|SOX10_uc003auo.1_Missense_Mutation_p.G193E	NM_006941	NP_008872	P56693	SOX10_HUMAN	Homo sapiens SRY (sex determining region Y)-box 10 (SOX10), mRNA.	193						cytoplasm|nucleus	DNA binding|identical protein binding|transcription coactivator activity			NS(6)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|skin(2)	20	Melanoma(58;0.045)					CTCGGCCTCCCCACCGGGGCA	0.682000														19			4		0	0	0.000248	0	0
C17orf47	284083	broad.mit.edu	37	17	56621404	56621404	+	Silent	SNP	A	C	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:56621404A>C	uc002iwq.2	-	0	330	c.144T>G	c.(142-144)ccT>ccG	p.P48P		NM_001038704	NP_001033793	Q8NEP4	CQ047_HUMAN	Homo sapiens chromosome 17 open reading frame 47 (C17orf47), mRNA.	48										NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	24	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TTCGGTGGGAAGGGTTCAGGG	0.552000														32			12		0	0	0.000978	0	0
CCDC68	80323	broad.mit.edu	37	18	52596037	52596037	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr18:52596037C>T	uc002lfs.3	-	7	849	c.677G>A	c.(676-678)gGa>gAa	p.G226E	CCDC68_uc002lft.3_Missense_Mutation_p.G226E	NM_001143829	NP_079490	Q9H2F9	CCD68_HUMAN	Homo sapiens coiled-coil domain containing 68 (CCDC68), transcript variant 2, mRNA.	226										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)		AAACCTTTTTCCATATGTAGC	0.408000														32			15		0	0	0.002450	0	0
SCN10A	6336	broad.mit.edu	37	3	38748845	38748845	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:38748845C>T	uc003ciq.3	-	24	4311	c.4311G>A	c.(4309-4311)gaG>gaA	p.E1437E		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	1437					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	TCTTCTGCTCCTCTGTCATGA	0.542000														99			59		0	0	0.003610	0	0
KIAA2026	158358	broad.mit.edu	37	9	5968635	5968635	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:5968635G>A	uc003zjq.4	-	2	1812	c.1596C>T	c.(1594-1596)ccC>ccT	p.P532P		NM_001017969	NP_001017969	Q5HYC2	K2026_HUMAN	Homo sapiens KIAA2026 (KIAA2026), mRNA.	532										breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		TGAAGGAAGAGGGCAGGCTAT	0.368000														94			68		0	0	0.003610	0	0
MRPL21	219927	broad.mit.edu	37	11	68668047	68668047	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:68668047A>G	uc010rqe.1	-	1	140	c.115T>C	c.(115-117)Ttc>Ctc	p.F39L	MRPL21_uc001ooh.3_5'UTR|MRPL21_uc001ooi.3_Missense_Mutation_p.F39L	NM_181514	NP_852615	Q7Z2W9	RM21_HUMAN	Homo sapiens mitochondrial ribosomal protein L21 (MRPL21), nuclear gene encoding mitochondrial protein, transcript variant 4, mRNA.	39					translation	mitochondrion|ribosome	RNA binding|structural constituent of ribosome			large_intestine(1)|lung(6)|prostate(1)	8			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			TGTGAATTGAACCTTCGAGAA	0.388000														165			70		0	0	0.003610	0	0
SEC61A2	55176	broad.mit.edu	37	10	12206359	12206359	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:12206359G>A	uc001ile.2	+	11	1484	c.1337G>A	c.(1336-1338)gGa>gAa	p.G446E	SEC61A2_uc010qbq.1_Missense_Mutation_p.G424E|SEC61A2_uc001ilf.4_Intron|SEC61A2_uc001ilh.4_Intron|SEC61A2_uc001ilg.4_Intron	NM_018144	NP_060614	Q9H9S3	S61A2_HUMAN	Homo sapiens Sec61 alpha 2 subunit (S. cerevisiae) (SEC61A2), transcript variant 1, mRNA.	446						endoplasmic reticulum membrane|integral to membrane	P-P-bond-hydrolysis-driven protein transmembrane transporter activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Renal(717;0.228)				TCTGGCACTGGAATTCTGCTA	0.483000														328			139		0	0	0.003610	0	0
SPHKAP	80309	broad.mit.edu	37	2	228882330	228882330	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:228882330G>A	uc002vpq.2	-	6	3287	c.3240C>T	c.(3238-3240)gcC>gcT	p.A1080A	SPHKAP_uc002vpp.2_Silent_p.A1080A|SPHKAP_uc010zlx.1_Silent_p.A1080A	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	1080						cytoplasm	protein binding	p.A1080A(3)		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)		CGCAGCTGGAGGCCTTCAGCC	0.612000														48			16		0	0	0.004990	0	0
PCDH18	54510	broad.mit.edu	37	4	138442299	138442299	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:138442299C>T	uc003ihe.4	-	3	3679	c.3292G>A	c.(3292-3294)Gaa>Aaa	p.E1098K	PCDH18_uc003ihf.4_Missense_Mutation_p.E1090K|PCDH18_uc011cgz.2_Missense_Mutation_p.E309K|PCDH18_uc003ihg.4_Missense_Mutation_p.E877K|PCDH18_uc011cha.2_Missense_Mutation_p.E278K	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	Homo sapiens protocadherin 18 (PCDH18), mRNA.	1098	Interaction with DAB1 (By similarity).				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.E1098K(4)		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)					AAATCATCTTCCTCATAATTT	0.488000														36			10		0	0	0.006214	0	0
GP2	2813	broad.mit.edu	37	16	20335310	20335310	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:20335310C>T	uc002dgv.3	-	2	446	c.363G>A	c.(361-363)ctG>ctA	p.L121L	GP2_uc002dgw.3_Silent_p.L121L|GP2_uc002dgx.3_Intron|GP2_uc002dgy.3_Intron	NM_001007240	NP_001007241	P55259	GP2_HUMAN	Homo sapiens glycoprotein 2 (zymogen granule membrane) (GP2), transcript variant 1, mRNA.	121						anchored to membrane|extracellular region|plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						GGGTCCCATTCAGCCACATGG	0.582000														36			14		0	0	0.003163	0	0
NLRP3	114548	broad.mit.edu	37	1	247588870	247588870	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:247588870C>T	uc001icr.3	+	4	2263	c.2125C>T	c.(2125-2127)Cca>Tca	p.P709S	NLRP3_uc001ics.3_Missense_Mutation_p.P709S|NLRP3_uc001icu.3_Missense_Mutation_p.P709S|NLRP3_uc001icw.3_Missense_Mutation_p.P709S|NLRP3_uc001icv.3_Missense_Mutation_p.P709S|NLRP3_uc010pyw.2_Missense_Mutation_p.P707S|NLRP3_uc001ict.1_Missense_Mutation_p.P707S	NM_001079821	NP_001230062	Q96P20	NALP3_HUMAN	Homo sapiens NLR family, pyrin domain containing 3 (NLRP3), transcript variant 3, mRNA.	709					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)			GTGTGTCCTCCCAAGCTCCTC	0.562000														24			16		0	0	0.007413	0	0
PTPRT	11122	broad.mit.edu	37	20	40713329	40713329	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr20:40713329G>A	uc002xkg.3	-	28	4313	c.4129C>T	c.(4129-4131)Cac>Tac	p.H1377Y	PTPRT_uc010ggj.3_Missense_Mutation_p.H1396Y|PTPRT_uc010ggi.3_Missense_Mutation_p.H580Y	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	1377	Tyrosine-protein phosphatase 2.				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)				CACAGGCAGTGGACCACAGTA	0.607000														16			5		0	0	0.000602	0	0
LTBP4	8425	broad.mit.edu	37	19	41135420	41135420	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:41135420C>T	uc002ooh.1	+	33	4837	c.4837C>T	c.(4837-4839)Ccg>Tcg	p.P1613S	LTBP4_uc002oog.1_Missense_Mutation_p.P1576S|LTBP4_uc002ooi.1_Missense_Mutation_p.P1546S|LTBP4_uc002ooj.1_Missense_Mutation_p.P487S|LTBP4_uc002ool.1_Missense_Mutation_p.P626S|LTBP4_uc010xvp.1_Missense_Mutation_p.P374S	NM_001042544	NP_001036009	Q8N2S1	LTBP4_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 4 (LTBP4), transcript variant 1, mRNA.	1614	EGF-like 16.				growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CACGCACCAGCCGCACCACTG	0.761000														9			6		0	0	0.001168	0	0
KCNK10	54207	broad.mit.edu	37	14	88693765	88693765	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:88693765C>T	uc001xwm.3	-	3	757	c.635G>A	c.(634-636)gGa>gAa	p.G212E	KCNK10_uc001xwn.3_Missense_Mutation_p.G212E|KCNK10_uc001xwo.3_Missense_Mutation_p.G207E	NM_138318	NP_612191	P57789	KCNKA_HUMAN	Homo sapiens potassium channel, subfamily K, member 10 (KCNK10), transcript variant 3, mRNA.	207					signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						AAAGATGGTTCCAAGTTGGTC	0.413000														87			36		0	0	0.002836	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33576177	33576177	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:33576177G>A	uc003jia.1	-	18	4117	c.3954C>T	c.(3952-3954)atC>atT	p.I1318I	ADAMTS12_uc010iuq.1_Silent_p.I1233I	NM_030955	NP_112217	P58397	ATS12_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 12 (ADAMTS12), mRNA.	1318	TSP type-1 5.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						AGTTTCCGACGATCCAGTGTG	0.453000										HNSCC(64;0.19)				52			25		0	0	0.003330	0	0
IKZF1	10320	broad.mit.edu	37	7	50467663	50467663	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:50467663G>A	uc003tow.4	+	7	1053	c.898G>A	c.(898-900)Gag>Aag	p.E300K	IKZF1_uc022acq.1_Missense_Mutation_p.E157K|IKZF1_uc003tpa.4_Missense_Mutation_p.E65K|IKZF1_uc022acr.1_Missense_Mutation_p.E75K|IKZF1_uc022acs.1_Missense_Mutation_p.E30K|IKZF1_uc022act.1_Missense_Mutation_p.E203K|IKZF1_uc022acu.1_Missense_Mutation_p.E213K|IKZF1_uc003tox.4_Missense_Mutation_p.E258K|IKZF1_uc022acv.1_Missense_Mutation_p.E161K|IKZF1_uc022acw.1_Missense_Mutation_p.E171K|IKZF1_uc022acx.1_Missense_Mutation_p.E213K|IKZF1_uc022acy.1_Missense_Mutation_p.E107K|IKZF1_uc022acz.1_Missense_Mutation_p.E117K|IKZF1_uc011kck.2_Missense_Mutation_p.E213K|IKZF1_uc003toy.4_Missense_Mutation_p.E258K|IKZF1_uc003toz.4_Missense_Mutation_p.E270K|IKZF1_uc010kyx.3_Missense_Mutation_p.E40K	NM_006060	NP_006051	Q13422	IKZF1_HUMAN	Homo sapiens IKAROS family zinc finger 1 (Ikaros) (IKZF1), transcript variant 1, mRNA.	300					cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	p.?(28)		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)				CGCCAGCTACGAGAAGGAGAA	0.632000			"""D,T"""	BCL6	"""ALL, DLBCL"""									10			5		0	0	0.001984	0	0
CLEC16A	23274	broad.mit.edu	37	16	11272417	11272417	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:11272417C>T	uc021tcy.1	+	23	3262	c.3032C>T	c.(3031-3033)cCc>cTc	p.P1011L	CLEC16A_uc002dao.3_Missense_Mutation_p.P1009L|CLEC16A_uc002dap.3_Missense_Mutation_p.P98L	NM_015226	NP_056041	Q2KHT3	CL16A_HUMAN	Homo sapiens C-type lectin domain family 16, member A (CLEC16A), transcript variant 1, mRNA.	1011								p.0?(1)		breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						ACCCTTGTCCCCCCAGTTGAC	0.697000														11			6		0	0	0.001168	0	0
PROX1	5629	broad.mit.edu	37	1	214171352	214171352	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:214171352C>T	uc001hkh.3	+	1	1746	c.1474C>T	c.(1474-1476)Cca>Tca	p.P492S	PROX1_uc001hkg.1_Missense_Mutation_p.P492S	NM_002763	NP_002754	Q92786	PROX1_HUMAN	Homo sapiens prospero homeobox 1 (PROX1), mRNA.	492					aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of S phase of mitotic cell cycle|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		GATGGCCTATCCATTTCAGAG	0.592000														47			22		0	0	0.005443	0	0
PPP1R13B	23368	broad.mit.edu	37	14	104208499	104208499	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:104208499C>T	uc001yof.1	-	10	1733	c.1450G>A	c.(1450-1452)Gaa>Aaa	p.E484K	PPP1R13B_uc010awv.1_Non-coding_Transcript|PPP1R13B_uc001yog.1_Missense_Mutation_p.E351K	NM_015316	NP_056131	Q96KQ4	ASPP1_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 13B (PPP1R13B), mRNA.	484	Pro-rich.				apoptosis|induction of apoptosis|negative regulation of cell cycle	cytoplasm|nucleus|plasma membrane	protein binding			endometrium(6)|kidney(2)|large_intestine(7)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)				AAGCTGCCTTCCTTCCTCCTT	0.642000														48			16		0	0	0.006122	0	0
TRPM5	29850	broad.mit.edu	37	11	2441525	2441525	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:2441525C>T	uc010qxl.2	-	3	585	c.576G>A	c.(574-576)ggG>ggA	p.G192G	TRPM5_uc001lwm.4_Silent_p.G192G|TRPM5_uc009ydn.3_Silent_p.G194G	NM_014555	NP_055370	Q9NZQ8	TRPM5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 5 (TRPM5), mRNA.	192						integral to membrane|plasma membrane	receptor activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		CATCGCCCTTCCCCGGGGGGC	0.687000														156			72		0	0	0.003610	0	0
abParts	0	broad.mit.edu	37	14	107095291	107095291	+	RNA	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:107095291C>T	uc021ser.1	-	113		c.5123G>A								Parts of antibodies, mostly variable regions.																		CCAGTCCCTTCCCTGGGGGCT	0.562000														36			13		0	0	0.001523	0	0
C7orf49	78996	broad.mit.edu	37	7	134851454	134851454	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:134851454G>A	uc003vsl.3	-	3	696	c.383C>T	c.(382-384)cCg>cTg	p.P128L	C7orf49_uc003vsh.3_Intron|C7orf49_uc003vsj.3_Missense_Mutation_p.P99L|C7orf49_uc022alz.1_3'UTR|C7orf49_uc022ama.1_Missense_Mutation_p.P73L|C7orf49_uc022amb.1_3'UTR|C7orf49_uc003vsm.3_3'UTR|C7orf49_uc003vso.3_Missense_Mutation_p.P73L|C7orf49_uc003vsk.3_3'UTR	NM_024033	NP_001230684	Q9BWK5	MRI_HUMAN	Homo sapiens chromosome 7 open reading frame 49 (C7orf49), transcript variant 1, mRNA.	128						cytoplasm				endometrium(1)|large_intestine(4)|lung(1)|ovary(1)	7						GGAACCCCCCGGCCTCTGGGA	0.597000														49			24		0	0	0.003330	0	0
WDR27	253769	broad.mit.edu	37	6	170013713	170013713	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:170013713G>A	uc003qwx.3	-	21	2783	c.2263C>T	c.(2263-2265)Ctt>Ttt	p.L755F	WDR27_uc003qwv.2_Intron|WDR27_uc021zio.1_Missense_Mutation_p.L755F|WDR27_uc003qwy.3_Missense_Mutation_p.L628F	NM_182552	NP_872358	A2RRH5	WDR27_HUMAN	Homo sapiens WD repeat domain 27 (WDR27), transcript variant 1, mRNA.	725										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	12		Breast(66;1.53e-05)|Ovarian(120;0.216)		OV - Ovarian serous cystadenocarcinoma(33;6.48e-20)|BRCA - Breast invasive adenocarcinoma(81;3.56e-07)|GBM - Glioblastoma multiforme(31;0.00168)		GTCAGGAAAAGGTTATAAGCC	0.498000														45			7		0	0	0.001984	0	0
TTN	7273	broad.mit.edu	37	2	179430748	179430748	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:179430748C>T	uc021vsy.1	-	274	72632	c.72407G>A	c.(72406-72408)tGg>tAg	p.W24136*	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Nonsense_Mutation_p.W17831*|TTN_uc021vta.1_Nonsense_Mutation_p.W17764*|TTN_uc021vtb.1_Nonsense_Mutation_p.W17639*	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	25063	Fibronectin type-III 75.						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)			GGGTGGCTCCCATACCAGGAA	0.438000														95			57		0	0	0.003610	0	0
COL21A1	81578	broad.mit.edu	37	6	56035908	56035908	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:56035908C>T	uc003pcs.3	-	3	891	c.659G>A	c.(658-660)cGa>cAa	p.R220Q	COL21A1_uc003pct.1_Non-coding_Transcript|COL21A1_uc011dxi.1_Missense_Mutation_p.R220Q|COL21A1_uc003pcu.1_Missense_Mutation_p.R220Q	NM_030820	NP_110447	Q96P44	COLA1_HUMAN	Homo sapiens collagen, type XXI, alpha 1 (COL21A1), mRNA.	220					cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			CACTGGAATTCGTGTTGGACA	0.323000														93			34		0	0	0.002222	0	0
GDA	9615	broad.mit.edu	37	9	74856215	74856215	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:74856215G>A	uc004air.3	+	11	1344	c.1135_splice	c.e11+1	p.A379_splice	GDA_uc011lse.2_Splice_Site_p.A305_splice|GDA_uc004aiq.3_Splice_Site_p.A379_splice|GDA_uc010mow.2_Splice_Site|GDA_uc011lsf.2_Splice_Site_p.A305_splice|GDA_uc004ais.3_Splice_Site_p.A301_splice	NM_001242505	NP_001229434	Q9Y2T3	GUAD_HUMAN	Homo sapiens guanine deaminase (GDA), transcript variant 1, mRNA.	379					nervous system development|purine base metabolic process|purine nucleotide catabolic process	cytosol	guanine deaminase activity|zinc ion binding			central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(20)|ovary(2)|skin(2)|urinary_tract(1)	32		Myeloproliferative disorder(762;0.0122)		Lung(182;0.0583)		GGAAGCCAAGGTAATGACTCT	0.378000														33			10		0	0	0.008291	0	0
SNAP91	9892	broad.mit.edu	37	6	84292059	84292059	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:84292059G>A	uc021zcf.1	-	21	2061	c.2031C>T	c.(2029-2031)ttC>ttT	p.F677F	SNAP91_uc011dzd.2_Silent_p.F180F|SNAP91_uc003pka.3_Silent_p.F675F|SNAP91_uc011dze.2_Silent_p.F675F|SNAP91_uc003pkc.3_Silent_p.F647F|SNAP91_uc003pkd.3_Silent_p.F370F|SNAP91_uc003pkb.3_Silent_p.F586F	NM_014841	NP_055656	O60641	AP180_HUMAN	Homo sapiens synaptosomal-associated protein, 91kDa homolog (mouse) (SNAP91), transcript variant 1, mRNA.	677					clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		AAGGCGCCATGAAAGAACCCC	0.418000														22			10		0	0	0.000978	0	0
OR2L13	284521	broad.mit.edu	37	1	248262848	248262848	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:248262848G>A	uc001ids.3	+	2	508	c.171G>A	c.(169-171)ccG>ccA	p.P57P	OR2L13_uc021pmc.1_Silent_p.P57P	NM_175911	NP_787107	Q8N349	OR2LD_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily L, member 13 (OR2L13), mRNA.	57					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	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;0.0132)			TCCACACACCGATGTACTTTC	0.517000														76			40		0	0	0.002222	0	0
TUSC3	7991	broad.mit.edu	37	8	15508281	15508281	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:15508281C>T	uc003wwt.3	+	2	728	c.384C>T	c.(382-384)ttC>ttT	p.F128F	TUSC3_uc003wwu.3_Silent_p.F128F	NM_006765	NP_006756	Q13454	TUSC3_HUMAN	Homo sapiens tumor suppressor candidate 3 (TUSC3), transcript variant 1, mRNA.	128					cell redox homeostasis|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(10)|ovary(2)	28				Colorectal(111;0.113)		AGCTCTTCTTCAGTATGGTGG	0.373000														114			47		0	0	0.003610	0	0
AX747417	0	broad.mit.edu	37	3	95374304	95374304	+	RNA	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:95374304C>T	uc003dro.1	-	4		c.1558G>A								Homo sapiens cDNA FLJ34909 fis, clone NT2RI2009301, moderately similar to BIFUNCTIONAL METHYLENETETRAHYDROFOLATE DEHYDROGENASE/CYCLOHYDROLASE, MITOCHONDRIAL PRECURSOR.																		AATGTCAGTTCGCTTAATTAT	0.448000														41			14		0	0	0.003163	0	0
OR4C11	219429	broad.mit.edu	37	11	55371635	55371635	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:55371635G>A	uc010rii.2	-	0	240	c.215C>T	c.(214-216)tCa>tTa	p.S72L		NM_001004700	NP_001004700	Q6IEV9	OR4CB_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 11 (OR4C11), mRNA.	72					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						TGTGGAAGTTGAAAAGCAAGA	0.388000														61			36		0	0	0.004289	0	0
ZNF320	162967	broad.mit.edu	37	19	53383908	53383908	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:53383908G>A	uc002qag.3	-	3	1662	c.1471C>T	c.(1471-1473)Cct>Tct	p.P491S	ZNF320_uc010eqi.1_Intron|ZNF320_uc002qah.3_Missense_Mutation_p.P437S|ZNF320_uc002qai.3_Missense_Mutation_p.P491S	NM_207333	NP_997216	A2RRD8	ZN320_HUMAN	Homo sapiens zinc finger protein 320 (ZNF320), mRNA.	491					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)		TCTCCAAAAGGAATTTTCTGA	0.393000														43			21		0	0	0.002299	0	0
OR4A15	81328	broad.mit.edu	37	11	55136058	55136058	+	Silent	SNP	G	A	A	rs141225150	byFrequency	TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:55136058G>A	uc010rif.2	+	0	699	c.699G>A	c.(697-699)gcG>gcA	p.A233A		NM_001005275	NP_001005275	Q8NGL6	O4A15_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 15 (OR4A15), mRNA.	233					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A233A(2)		NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						ATGGAGGAGCGATTTGTGCTG	0.413000														59			35		0	0	0.002836	0	0
C15orf23	90417	broad.mit.edu	37	15	40675131	40675131	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:40675131G>A	uc001zll.3	+	0	210	c.95G>A	c.(94-96)cGg>cAg	p.R32Q	C15orf23_uc001zlo.3_Missense_Mutation_p.R32Q|C15orf23_uc001zlm.3_Non-coding_Transcript|C15orf23_uc001zln.3_Non-coding_Transcript|C15orf23_uc010ucp.2_Missense_Mutation_p.R32Q	NM_033286	NP_150628	Q9Y448	T4AF1_HUMAN	Homo sapiens chromosome 15 open reading frame 23 (C15orf23), transcript variant 1, mRNA.	32						nucleus	protein binding			central_nervous_system(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|skin(2)|stomach(1)	14		all_cancers(109;2.34e-14)|all_epithelial(112;9.21e-12)|Lung NSC(122;2.95e-09)|all_lung(180;6.03e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;3.39e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0798)		CCTAGCTACCGGAAGTTTCTA	0.572000														46			36		0	0	0.006230	0	0
TNXB	7148	broad.mit.edu	37	6	32053659	32053659	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:32053659C>T	uc003nzl.2	-	6	3218	c.3016G>A	c.(3016-3018)Gaa>Aaa	p.E1006K		NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	1093	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						GGCAGCACTTCCTCATGTGCC	0.677000														268			107		0	0	0.003610	0	0
MUC16	94025	broad.mit.edu	37	19	9089213	9089213	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:9089213C>T	uc002mkp.3	-	0	2806	c.2602G>A	c.(2602-2604)Gaa>Aaa	p.E868K		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	868	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						TTCGAAGTTTCCTCTGTTTCT	0.478000														25			10		0	0	0.008291	0	0
TCRBV12S3	0	broad.mit.edu	37	7	142206948	142206948	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:142206948G>A	uc003vyj.2	-	0	60	c.13C>T	c.(13-15)Ctc>Ttc	p.L5F	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;																		TAGAAGAAGAGCCTGGTGCCC	0.547000														44			26		0	0	0.002445	0	0
SLC22A10	387775	broad.mit.edu	37	11	63129936	63129936	+	RNA	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:63129936G>A	uc010rmo.1	+	8		c.1058G>A						Q63ZE4	S22AA_HUMAN	Homo sapiens solute carrier family 22, member 10 (SLC22A10), mRNA.							integral to membrane	transmembrane transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CTGCATGCTGGAATAGAATGA	0.453000														12			4		0	0	0.000248	0	0
STXBP5L	9515	broad.mit.edu	37	3	120957858	120957858	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:120957858G>A	uc003eec.4	+	12	1365	c.1225G>A	c.(1225-1227)Gaa>Aaa	p.E409K	STXBP5L_uc011bji.2_Missense_Mutation_p.E409K	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN	Homo sapiens syntaxin binding protein 5-like (STXBP5L), mRNA.	409					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)		GGACATTCATGAATCACCAGT	0.313000														63			25		0	0	0.002780	0	0
RALGAPA2	57186	broad.mit.edu	37	20	20484092	20484092	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr20:20484092C>T	uc002wrz.3	-	34	5254	c.5111G>A	c.(5110-5112)gGg>gAg	p.G1704E	RALGAPA2_uc002wry.3_Missense_Mutation_p.G1319E|RALGAPA2_uc010zsg.2_Missense_Mutation_p.G1152E|RALGAPA2_uc002wsa.1_Missense_Mutation_p.G476E	NM_020343	NP_065076	Q2PPJ7	RGPA2_HUMAN	Homo sapiens Ral GTPase activating protein, alpha subunit 2 (catalytic) (RALGAPA2), mRNA.	1704	Rap-GAP.				activation of Ral GTPase activity	cytosol|nucleus	Ral GTPase activator activity|protein heterodimerization activity			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						GGCCGTCTGCCCGGTGCTGCC	0.502000														20			9		0	0	0.004482	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	T	T	rs121913377		TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome					37			21		0	0	0.001882	0	0
NRXN3	9369	broad.mit.edu	37	14	79181348	79181348	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:79181348C>T	uc001xun.3	+	4	1282	c.791C>T	c.(790-792)tCc>tTc	p.S264F	NRXN3_uc001xum.1_Non-coding_Transcript|NRXN3_uc010asv.1_Missense_Mutation_p.S398F	NM_004796	NP_004787	Q9HDB5	NRX3B_HUMAN	Homo sapiens neurexin 3 (NRXN3), transcript variant 1, mRNA.	0					angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		GGTGTCAAGTCCTCCTGTTCA	0.552000														22			9		0	0	0.008291	0	0
BTBD11	121551	broad.mit.edu	37	12	108012029	108012029	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:108012029G>A	uc001tmk.1	+	9	2847	c.2326G>A	c.(2326-2328)Gag>Aag	p.E776K	BTBD11_uc009zut.1_Intron|BTBD11_uc001tmj.3_Missense_Mutation_p.E776K|BTBD11_uc001tml.1_Missense_Mutation_p.E313K	NM_001018072	NP_001018082	A6QL63	BTBDB_HUMAN	Homo sapiens BTB (POZ) domain containing 11 (BTBD11), transcript variant a, mRNA.	776						integral to membrane	DNA binding	p.A775V(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						TGACCTGGCGGAGACAGCCCC	0.617000														31			9		0	0	0.004482	0	0
CD177	57126	broad.mit.edu	37	19	43859892	43859892	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:43859892G>A	uc002owi.3	+	3	501	c.459G>A	c.(457-459)aaG>aaA	p.K153K	CD177_uc010eis.3_Non-coding_Transcript|CD177_uc002owj.3_Non-coding_Transcript	NM_020406	NP_065139	Q8N6Q3	CD177_HUMAN	Homo sapiens CD177 molecule (CD177), mRNA.	153	UPAR/Ly6 1.				blood coagulation|leukocyte migration	anchored to membrane|plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5		Prostate(69;0.00682)				TCTGCCCCAAGGGGACCACAC	0.577000														32			13		0	0	0.001855	0	0
TAS2R60	338398	broad.mit.edu	37	7	143140973	143140973	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:143140973G>A	uc011ktg.2	+	0	428	c.428G>A	c.(427-429)tGg>tAg	p.W143*	LOC285965_uc003wda.3_Intron	NM_177437	NP_803186	P59551	T2R60_HUMAN	Homo sapiens taste receptor, type 2, member 60 (TAS2R60), mRNA.	143					sensory perception of bitter taste	integral to membrane	G-protein coupled receptor activity	p.W143*(1)		breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2)	31	Melanoma(164;0.172)					TGGCTACCATGGATGCTCTTC	0.453000														87			53		0	0	0.003610	0	0
OR2M3	127062	broad.mit.edu	37	1	248366491	248366491	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:248366491G>A	uc010pzg.2	+	0	122	c.122G>A	c.(121-123)gGa>gAa	p.G41E		NM_001004689	NP_001004689	Q8NG83	OR2M3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 3 (OR2M3), mRNA.	41					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			GCCTTCATGGGAAACTCTGTC	0.537000														118			57		0	0	0.003610	0	0
MEP1B	4225	broad.mit.edu	37	18	29797885	29797885	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr18:29797885G>A	uc002kxj.4	+	13	2095	c.2048G>A	c.(2047-2049)cGt>cAt	p.R683H		NM_005925	NP_005916	Q16820	MEP1B_HUMAN	Homo sapiens meprin A, beta (MEP1B), mRNA.	683					digestion|proteolysis	extracellular space|integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						AAGAAATATCGTGAAAGGATG	0.408000														42			16		0	0	0.004990	0	0
NTRK2	4915	broad.mit.edu	37	9	87339159	87339159	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:87339159G>A	uc004aoa.1	+	9	1679	c.741G>A	c.(739-741)caG>caA	p.Q247Q	NTRK2_uc004anv.1_Silent_p.Q247Q|NTRK2_uc004any.1_Silent_p.Q247Q|NTRK2_uc004anz.1_Silent_p.Q247Q|NTRK2_uc004aob.1_Silent_p.Q247Q|NTRK2_uc011lsz.2_Silent_p.Q247Q|NTRK2_uc011lta.2_Silent_p.Q247Q|NTRK2_uc011ltb.1_Silent_p.Q91Q	NM_001018064	NP_001018074	Q16620	NTRK2_HUMAN	Homo sapiens neurotrophic tyrosine kinase, receptor, type 2 (NTRK2), transcript variant c, mRNA.	247	Ig-like C2-type 1.				activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development	integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	46						GCCACACACAGGGCTCCTTAA	0.403000										TSP Lung(25;0.17)				68			19		0	0	0.008871	0	0
TAOK2	9344	broad.mit.edu	37	16	29998918	29998918	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:29998918C>T	uc010bzm.2	+	14	3381	c.3346C>T	c.(3346-3348)Cgg>Tgg	p.R1116W	BOLA2_uc010bzb.1_Intron|TAOK2_uc002dvb.2_Intron|TAOK2_uc021tgf.1_Missense_Mutation_p.R996W|TAOK2_uc002dva.2_Missense_Mutation_p.R1109W|TAOK2_uc002dvc.2_Intron|TAOK2_uc002dvd.2_Missense_Mutation_p.R936W	NM_016151	NP_057235	Q9UL54	TAOK2_HUMAN	Homo sapiens TAO kinase 2 (TAOK2), transcript variant 1, mRNA.	1109					actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						TGTGGGGGACCGGGGTCTGTT	0.687000														71			21		0	0	0.001882	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140868826	140868826	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:140868826C>T	uc003lla.2	+	0	19	c.19C>T	c.(19-21)Cca>Tca	p.P7S	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_uc003lkt.2_Intron|PCDHGC5_uc003lkv.2_Intron|PCDHGC5_uc003lkw.2_Intron|PCDHGC5_uc003lky.2_Intron|PCDHGC5_uc011dbc.2_Missense_Mutation_p.P7S	NM_018929	NP_061752	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily C, 5 (PCDHGC5), transcript variant 1, mRNA.	7					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)			CAAGACACTCCCACAGCTCGC	0.572000														32			9		0	0	0.006214	0	0
ANO5	203859	broad.mit.edu	37	11	22242655	22242655	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:22242655C>T	uc001mqi.2	+	4	510	c.193C>T	c.(193-195)Cag>Tag	p.Q65*	ANO5_uc001mqj.2_Nonsense_Mutation_p.Q64*	NM_213599	NP_998764	Q75V66	ANO5_HUMAN	Homo sapiens anoctamin 5 (ANO5), transcript variant 1, mRNA.	65						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						TCAAAAAAATCAGCAAAGCAA	0.323000														24			11		0	0	0.001368	0	0
CACNA1A	773	broad.mit.edu	37	19	13418659	13418659	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:13418659G>A	uc002mwy.3	-	14	2159	c.1923C>T	c.(1921-1923)ttC>ttT	p.F641F	CACNA1A_uc010dzc.2_Silent_p.F167F|CACNA1A_uc010xnd.2_Silent_p.F641F|CACNA1A_uc021ups.1_Silent_p.F641F|CACNA1A_uc010xne.2_Silent_p.F641F|CACNA1A_uc010dze.2_Silent_p.F641F|CACNA1A_uc021upt.1_Silent_p.F642F	NM_001127222	NP_001120694	O00555	CAC1A_HUMAN	Homo sapiens calcium channel, voltage-dependent, P/Q type, alpha 1A subunit (CACNA1A), transcript variant 4, mRNA.	642					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	TCCCTTCATCGAAATTAAACC	0.547000														62			21		0	0	0.001882	0	0
NLRP2	55655	broad.mit.edu	37	19	55493645	55493645	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:55493645C>T	uc021vbq.1	+	5	690	c.579C>T	c.(577-579)atC>atT	p.I193I	NLRP2_uc010yfp.2_Silent_p.I170I|NLRP2_uc002qij.3_Silent_p.I193I|NLRP2_uc010esp.3_Silent_p.I171I|NLRP2_uc010esn.3_Silent_p.I169I|NLRP2_uc010eso.3_Silent_p.I190I	NM_001174081	NP_060322	Q9NX02	NALP2_HUMAN	Homo sapiens NLR family, pyrin domain containing 2 (NLRP2), transcript variant 2, mRNA.	193					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		AGATGCTGATCCCATTCAGCA	0.537000														113			37		0	0	0.006999	0	0
ZNF569	148266	broad.mit.edu	37	19	37904821	37904821	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:37904821A>C	uc002ogj.3	-	8	1743	c.811T>G	c.(811-813)Tgt>Ggt	p.C271G	ZNF569_uc002ogh.3_Missense_Mutation_p.C88G|ZNF569_uc002ogi.3_Missense_Mutation_p.C247G	NM_152484	NP_689697	Q5MCW4	ZN569_HUMAN	Homo sapiens zinc finger protein 569 (ZNF569), mRNA.	247					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GCTTTACCACATTCATTACAT	0.338000														83			24		0	0	0.006320	0	0
BMP3	651	broad.mit.edu	37	4	81967122	81967122	+	Silent	SNP	C	T	T	rs147415195		TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:81967122C>T	uc003hmg.4	+	1	867	c.547C>T	c.(547-549)Ctg>Ttg	p.L183L		NM_001201	NP_001192	P12645	BMP3_HUMAN	Homo sapiens bone morphogenetic protein 3 (BMP3), mRNA.	183					cartilage development|cell differentiation|cell-cell signaling|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity	p.H182R(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	29						CCTTGGCCATCTGTCAGTGGA	0.438000														170			44		0	0	0.003610	0	0
NLRP3	114548	broad.mit.edu	37	1	247586560	247586560	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:247586560C>T	uc001icr.3	+	3	450	c.312C>T	c.(310-312)ccC>ccT	p.P104P	NLRP3_uc001ics.3_Silent_p.P104P|NLRP3_uc001icu.3_Silent_p.P104P|NLRP3_uc001icw.3_Silent_p.P104P|NLRP3_uc001icv.3_Silent_p.P104P|NLRP3_uc010pyw.2_Silent_p.P102P|NLRP3_uc001ict.1_Silent_p.P102P	NM_001079821	NP_001230062	Q96P20	NALP3_HUMAN	Homo sapiens NLR family, pyrin domain containing 3 (NLRP3), transcript variant 3, mRNA.	104					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.P104P(2)		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)			TTTCGAATCCCACTGTGATAT	0.408000														97			24		0	0	0.005443	0	0
QARS	5859	broad.mit.edu	37	3	49136965	49136965	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:49136965G>A	uc003cvx.3	-	15	1509	c.1504C>T	c.(1504-1506)Ctt>Ttt	p.L502F	QARS_uc011bcc.2_5'Flank|QARS_uc011bcd.2_Missense_Mutation_p.L357F|QARS_uc003cvy.3_Missense_Mutation_p.L357F|QARS_uc011bce.2_Missense_Mutation_p.L491F	NM_005051	NP_005042	P47897	SYQ_HUMAN	Homo sapiens glutaminyl-tRNA synthetase (QARS), mRNA.	502					glutaminyl-tRNA aminoacylation	cytosol|mitochondrial matrix	ATP binding|glutamine-tRNA ligase activity|protein binding			breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	L-Glutamine(DB00130)	GTTGCTACAAGCTGGAGGATC	0.522000														84			29		0	0	0.002096	0	0
ZFHX3	463	broad.mit.edu	37	16	72845856	72845856	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:72845856G>T	uc002fck.3	-	5	4284	c.3611C>A	c.(3610-3612)tCt>tAt	p.S1204Y	ZFHX3_uc002fcl.3_Missense_Mutation_p.S290Y	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA.	1204					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				AGAGAGGGGAGACTCTGAGCT	0.532000														90			35		1.06647e-15	1.29568e-15	0.003755	1	0
C19orf46	163183	broad.mit.edu	37	19	36497567	36497567	+	Missense_Mutation	SNP	C	T	T	rs149470089	by1000genomes	TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:36497567C>T	uc002ocq.1	-	4	714	c.625G>A	c.(625-627)Gag>Aag	p.E209K	C19orf46_uc021utd.1_Missense_Mutation_p.E96K|C19orf46_uc002ocr.1_Missense_Mutation_p.E209K|C19orf46_uc002ocs.1_Missense_Mutation_p.E96K|C19orf46_uc010een.1_Missense_Mutation_p.E124K	NM_001039876	NP_001034965	Q8N205	SYNE4_HUMAN	Homo sapiens chromosome 19 open reading frame 46 (C19orf46), mRNA.	209					establishment of epithelial cell apical/basal polarity	integral to nuclear outer membrane	actin binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	8	all_lung(56;1.35e-06)|Lung NSC(56;2.15e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			TTGGCCTCCTCGAACACCTGG	0.647000														21			10		0	0	0.008291	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84651759	84651759	+	Missense_Mutation	SNP	G	A	A	rs147808860		TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:84651759G>A	uc002bjz.4	+	20	3603	c.3379G>A	c.(3379-3381)Gaa>Aaa	p.E1127K	ADAMTSL3_uc010bmt.1_Missense_Mutation_p.E1127K	NM_207517	NP_997400	P82987	ATL3_HUMAN	Homo sapiens ADAMTS-like 3 (ADAMTSL3), mRNA.	1127						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	p.E1127*(2)|p.E1127K(2)		NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			GCTGGTGGCCGAATTAGCCAA	0.547000														20			8		0	0	0.006214	0	0
GDF9	2661	broad.mit.edu	37	5	132200043	132200043	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:132200043G>A	uc003kxz.1	-	0	435	c.183C>T	c.(181-183)ctC>ctT	p.L61L	GDF9_uc011cxj.1_Intron|UQCRQ_uc003kya.1_5'Flank	NM_005260	NP_005251	O60383	GDF9_HUMAN	Homo sapiens growth differentiation factor 9 (GDF9), mRNA.	61					female gamete generation|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			NS(1)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	22		all_cancers(142;0.105)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GCGCGGGAAGGAGGCCAGCTC	0.527000														75			25		0	0	0.007291	0	0
TM6SF2	53345	broad.mit.edu	37	19	19381050	19381050	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:19381050G>A	uc002nmd.1	-	3	383	c.333C>T	c.(331-333)ttC>ttT	p.F111F	HAPLN4_uc002nmc.3_5'UTR	NM_001001524	NP_001001524	Q9BZW4	TM6S2_HUMAN	Homo sapiens transmembrane 6 superfamily member 2 (TM6SF2), mRNA.	111						integral to membrane				breast(2)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	14			Epithelial(12;0.0151)			AGTAGCAGATGAAGACTCCGT	0.657000														41			16		0	0	0.001523	0	0
DCLK1	9201	broad.mit.edu	37	13	36382424	36382424	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr13:36382424C>T	uc001uvf.3	-	13	2083	c.1800G>A	c.(1798-1800)caG>caA	p.Q600Q	MAB21L1_uc001uvc.3_Intron|DCLK1_uc001uve.4_Silent_p.Q293Q|DCLK1_uc010teh.2_Silent_p.Q293Q|DCLK1_uc010abk.3_Silent_p.Q120Q	NM_004734	NP_004725	O15075	DCLK1_HUMAN	Homo sapiens doublecortin-like kinase 1 (DCLK1), transcript variant 1, mRNA.	600	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)		CCATCAAAATCTGATCAAAAA	0.433000														113			38		0	0	0.002522	0	0
DNAH5	1767	broad.mit.edu	37	5	13781029	13781029	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:13781029G>A	uc003jfd.2	-	52	8902	c.8860C>T	c.(8860-8862)Ctg>Ttg	p.L2954L		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	2954	AAA 4 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					ACCCCGACCAGGAGGGCATTT	0.463000									Kartagener syndrome					31			12		0	0	0.002450	0	0
DOCK8	81704	broad.mit.edu	37	9	432316	432316	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:432316C>T	uc003zgf.2	+	36	4889	c.4777C>T	c.(4777-4779)Ccc>Tcc	p.P1593S	DOCK8_uc022bcu.1_Missense_Mutation_p.P1525S|DOCK8_uc010mgv.3_Missense_Mutation_p.P1493S|DOCK8_uc010mgu.3_Missense_Mutation_p.P895S|DOCK8_uc003zgk.2_Missense_Mutation_p.P1051S	NM_203447	NP_001180465	Q8NF50	DOCK8_HUMAN	Homo sapiens dedicator of cytokinesis 8 (DOCK8), transcript variant 1, mRNA.	1593	DHR-2.				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		GACTCCTTTTCCCACCCAGGT	0.428000														71			18		0	0	0.002299	0	0
ANXA9	8416	broad.mit.edu	37	1	150956832	150956832	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:150956832G>A	uc001ewa.2	+	5	813	c.343G>A	c.(343-345)Gcc>Acc	p.A115T		NM_003568	NP_003559	O76027	ANXA9_HUMAN	Homo sapiens annexin A9 (ANXA9), mRNA.	115					cell-cell adhesion	cell surface|cytosol	acetylcholine receptor activity|calcium ion binding|calcium-dependent phospholipid binding|phosphatidylserine binding|protein homodimerization activity			endometrium(1)|large_intestine(1)|lung(4)|skin(2)	8	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			GCAGCCCACAGCCCAGTTTGA	0.557000														60			21		0	0	0.001882	0	0
KIF13A	63971	broad.mit.edu	37	6	17817384	17817384	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:17817384T>C	uc003ncg.4	-	16	2027	c.1867A>G	c.(1867-1869)Atg>Gtg	p.M623V	KIF13A_uc003ncf.3_Missense_Mutation_p.M623V|KIF13A_uc003nch.4_Missense_Mutation_p.M623V|KIF13A_uc003nci.4_Missense_Mutation_p.M623V|KIF13A_uc003ncj.3_Missense_Mutation_p.M299V	NM_022113	NP_071396	Q9H1H9	KI13A_HUMAN	Homo sapiens kinesin family member 13A (KIF13A), transcript variant 1, mRNA.	623					Golgi to plasma membrane protein transport|cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			CGCTCATACATGAGCCGCTGC	0.572000														47			19		0	0	0.001523	0	0
GJD2	57369	broad.mit.edu	37	15	35046624	35046624	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:35046624G>A	uc001zis.1	-	0	66	c.66C>T	c.(64-66)atC>atT	p.I22I	AK092087_uc001zit.1_5'Flank	NM_020660	NP_065711	Q9UKL4	CXD2_HUMAN	Homo sapiens gap junction protein, delta 2, 36kDa (GJD2), mRNA.	22					synaptic transmission	connexon complex|integral to membrane	gap junction channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1)	19		all_lung(180;9.67e-07)		all cancers(64;2.75e-18)|GBM - Glioblastoma multiforme(113;1.9e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0156)		CTTACCTCCCGATCATAGTGG	0.662000														18			9		0	0	0.008291	0	0
WDFY3	23001	broad.mit.edu	37	4	85694049	85694049	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:85694049G>A	uc003hpd.3	-	29	5196	c.4788C>T	c.(4786-4788)acC>acT	p.T1596T		NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	Homo sapiens WD repeat and FYVE domain containing 3 (WDFY3), mRNA.	1596						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)		AAACCGCAAAGGTTGGCAAAG	0.348000														25			5		0	0	0.000602	0	0
abParts	0	broad.mit.edu	37	2	90007990	90007990	+	RNA	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:90007990G>A	uc010yts.2	+	13		c.2278G>A								Parts of antibodies, mostly variable regions.																		CAGAAACCAGGGAAAGTTCCT	0.522000														31			15		0	0	0.001523	0	0
PCDHB11	56125	broad.mit.edu	37	5	140580484	140580484	+	Silent	SNP	A	G	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:140580484A>G	uc003liy.3	+	0	1137	c.1137A>G	c.(1135-1137)ggA>ggG	p.G379G		NM_018931	NP_061754	Q9Y5F2	PCDBB_HUMAN	Homo sapiens protocadherin beta 11 (PCDHB11), mRNA.	379	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGGACAACGGAAGAATTGTTT	0.428000														70			27		0	0	0.001786	0	0
SEMG2	6407	broad.mit.edu	37	20	43851922	43851922	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr20:43851922C>T	uc010ggz.3	+	1	1706	c.1649C>T	c.(1648-1650)tCc>tTc	p.S550F	SEMG2_uc002xnk.3_Missense_Mutation_p.S550F|SEMG2_uc002xnl.3_Missense_Mutation_p.S430F	NM_003008	NP_002999	Q02383	SEMG2_HUMAN	Homo sapiens semenogelin II (SEMG2), mRNA.	550	Repeat-rich region.				sexual reproduction	extracellular space|stored secretory granule	structural molecule activity			autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Myeloproliferative disorder(115;0.0122)				AAACAGGAATCCAGTGAGTCA	0.378000														39			22		0	0	0.002299	0	0
CRTC3	64784	broad.mit.edu	37	15	91181686	91181686	+	Silent	SNP	C	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:91181686C>A	uc002bpp.3	+	11	1381	c.1275C>A	c.(1273-1275)tcC>tcA	p.S425S	CRTC3_uc002bpo.3_Silent_p.S425S	NM_022769	NP_073606	Q6UUV7	CRTC3_HUMAN	Homo sapiens CREB regulated transcription coactivator 3 (CRTC3), transcript variant 1, mRNA.	425					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus			CRTC3/MAML2(26)	breast(1)|endometrium(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20	Melanoma(11;0.00551)|Lung NSC(78;0.0931)|all_lung(78;0.163)		BRCA - Breast invasive adenocarcinoma(143;0.0745)			AGATGGTGTCCTCAGACCGAA	0.547000			T	MAML2	salivary gland mucoepidermoid									23			13		2.32078e-09	2.80707e-09	0.003163	1	0
C1S	716	broad.mit.edu	37	12	7177206	7177206	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:7177206G>A	uc001qsj.3	+	14	2037	c.1318G>A	c.(1318-1320)Gga>Aga	p.G440R	C1S_uc001qsk.3_Missense_Mutation_p.G440R|C1S_uc001qsl.3_Missense_Mutation_p.G440R|C1S_uc009zfr.3_Missense_Mutation_p.G273R|C1S_uc009zfs.3_Non-coding_Transcript	NM_201442	NP_958850	P09871	C1S_HUMAN	Homo sapiens complement component 1, s subcomponent (C1S), transcript variant 1, mRNA.	440	Peptidase S1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	GAGGATAATTGGAGGATCCGA	0.478000														58			33		0	0	0.005524	0	0
TECTB	6975	broad.mit.edu	37	10	114044339	114044339	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:114044339C>T	uc001kzr.1	+	1	123	c.123C>T	c.(121-123)atC>atT	p.I41I		NM_058222	NP_478129	Q96PL2	TECTB_HUMAN	Homo sapiens tectorin beta (TECTB), mRNA.	41	ZP.					anchored to membrane|plasma membrane|proteinaceous extracellular matrix				kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	19		Colorectal(252;0.198)		Epithelial(162;0.0143)|all cancers(201;0.0242)		TCACCAAAATCCCCGAGTGTC	0.453000														43			15		0	0	0.008871	0	0
GIMAP1-GIMAP5	100527949	broad.mit.edu	37	7	150417509	150417509	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:150417509C>T	uc003whq.3	+	2	557	c.417C>T	c.(415-417)ttC>ttT	p.F139F	GIMAP1-GIMAP5_uc022apw.1_Intron	NM_130759	NP_570115			Homo sapiens GTPase, IMAP family member 1 (GIMAP1), mRNA.																		GGGACATGTTCGGGGAGGACG	0.647000														29			16		0	0	0.004990	0	0
ARHGAP9	64333	broad.mit.edu	37	12	57866353	57866353	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:57866353G>A	uc001sod.3	-	20	2606	c.2413C>T	c.(2413-2415)Cca>Tca	p.P805S	ARHGAP9_uc001sny.3_Non-coding_Transcript|ARHGAP9_uc001snz.3_Missense_Mutation_p.P531S|ARHGAP9_uc001soa.3_Missense_Mutation_p.P404S|ARHGAP9_uc001sob.3_3'UTR|ARHGAP9_uc001soc.3_Missense_Mutation_p.P715S	NM_032496	NP_115885	Q9BRR9	RHG09_HUMAN	Homo sapiens Rho GTPase activating protein 9 (ARHGAP9), transcript variant 1, mRNA.	734					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30			GBM - Glioblastoma multiforme(3;3.37e-34)			AGCTGCCCTGGGTAGAGAGCA	0.542000														30			15		0	0	0.006122	0	0
PGK2	5232	broad.mit.edu	37	6	49754132	49754132	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:49754132G>A	uc003ozu.3	-	0	922	c.769C>T	c.(769-771)Ctg>Ttg	p.L257L		NM_138733	NP_620061	P07205	PGK2_HUMAN	Homo sapiens phosphoglycerate kinase 2 (PGK2), mRNA.	257					glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity	p.L257M(2)		autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					TCATCAAACAGGGAAGCACCA	0.393000														61			38		0	0	0.004289	0	0
ATP10A	57194	broad.mit.edu	37	15	26026330	26026330	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:26026330G>A	uc010ayu.3	-	1	596	c.490C>T	c.(490-492)Cac>Tac	p.H164Y		NM_024490	NP_077816	O60312	AT10A_HUMAN	Homo sapiens ATPase, class V, type 10A (ATP10A), mRNA.	164					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		TCTCCCACGTGGATTTCTTTC	0.493000														14			14		0	0	0.001855	0	0
PEG3	5178	broad.mit.edu	37	19	57326279	57326279	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:57326279G>A	uc002qnu.2	-	6	3882	c.3531C>T	c.(3529-3531)ttC>ttT	p.F1177F	PEG3_uc010ygr.1_Intron|PEG3_uc010ygq.1_Intron|PEG3_uc002qnr.2_Intron|PEG3_uc010etp.2_Intron|PEG3_uc010ygs.1_Intron|PEG3_uc002qnq.2_Intron|PEG3_uc002qnt.2_Silent_p.F1148F|PEG3_uc002qnv.2_Silent_p.F1177F|PEG3_uc002qnw.2_Silent_p.F1053F|PEG3_uc002qnx.2_Silent_p.F1051F|PEG3_uc010etr.2_Silent_p.F1177F	NM_001146186	NP_001139657	Q9GZU2	PEG3_HUMAN	Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA.	1177					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)		GCTCGAAAAGGAATGAGCTAT	0.443000														67			32		0	0	0.002445	0	0
ABLIM3	22885	broad.mit.edu	37	5	148620254	148620254	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:148620254G>A	uc003lpy.2	+	13	1471	c.1220G>A	c.(1219-1221)cGg>cAg	p.R407Q	ABLIM3_uc003lpz.1_Missense_Mutation_p.R407Q|ABLIM3_uc003lqa.1_Intron|ABLIM3_uc003lqb.3_Intron|ABLIM3_uc003lqc.1_Intron|ABLIM3_uc003lqd.1_Intron|ABLIM3_uc003lqe.1_Intron|ABLIM3_uc003lqf.3_Intron	NM_014945	NP_055760	O94929	ABLM3_HUMAN	Homo sapiens actin binding LIM protein family, member 3 (ABLIM3), mRNA.	407					axon guidance|cytoskeleton organization	cytoplasm	actin binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGAGTGGCCGGAGCTCTCCA	0.567000														50			14		0	0	0.006122	0	0
FBLN1	2192	broad.mit.edu	37	22	45996225	45996225	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr22:45996225C>T	uc003bgj.1	+	16	2158	c.2011C>T	c.(2011-2013)Cat>Tat	p.H671Y	FBLN1_uc003bgk.1_Non-coding_Transcript	NM_006486	NP_006477	P23142	FBLN1_HUMAN	Homo sapiens fibulin 1 (FBLN1), transcript variant D, mRNA.	671					interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		GGGCCCATTTCATGCCGTCCT	0.572000														167			80		0	0	0.003610	0	0
CACNA1C	775	broad.mit.edu	37	12	2797631	2797631	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:2797631C>T	uc009zdu.1	+	48	6365	c.6052C>T	c.(6052-6054)Ctg>Ttg	p.L2018L	CACNA1C_uc001qkc.2_Silent_p.L1954L|CACNA1C_uc001qjz.2_Silent_p.L1935L|CACNA1C_uc001qkd.2_Silent_p.L1954L|CACNA1C_uc001qke.2_Silent_p.L1924L|CACNA1C_uc001qkf.2_Silent_p.L1943L|CACNA1C_uc009zdw.1_Silent_p.L1976L|CACNA1C_uc001qkg.2_Silent_p.L1941L|CACNA1C_uc001qkh.2_Silent_p.L1943L|CACNA1C_uc001qkl.2_Silent_p.L1983L|CACNA1C_uc001qkj.2_Silent_p.L1970L|CACNA1C_uc001qkk.2_Silent_p.L1935L|CACNA1C_uc001qkn.2_Silent_p.L1935L|CACNA1C_uc001qkm.2_Silent_p.L1995L|CACNA1C_uc001qko.2_Silent_p.L1955L|CACNA1C_uc001qkp.2_Silent_p.L1935L|CACNA1C_uc001qkq.2_Silent_p.L1963L|CACNA1C_uc001qku.2_Silent_p.L1970L|CACNA1C_uc001qkr.2_Silent_p.L1952L|CACNA1C_uc001qks.2_Silent_p.L1935L|CACNA1C_uc001qkt.2_Silent_p.L1954L|CACNA1C_uc009zdv.1_Silent_p.L1932L|CACNA1C_uc001qkb.2_Silent_p.L1935L|CACNA1C_uc001qki.1_Silent_p.L1742L|CACNA1C_uc010sea.1_Silent_p.L626L|AK093746_uc001qkx.1_Intron|CACNA1C_uc001qky.1_Silent_p.L253L	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA.	2018					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)	AGTGGCAGGCCTGAGCCCCCT	0.632000														50			15		0	0	0.004990	0	0
OR3A4P	390756	broad.mit.edu	37	17	3214036	3214036	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:3214036G>A	uc002fvi.2	+	0	498	c.432G>A	c.(430-432)caG>caA	p.Q144Q						Homo sapiens olfactory receptor, family 3, subfamily A, member 4 pseudogene (OR3A4P), non-coding RNA.																		GGGGAATCCAGCAAGCCCTGG	0.552000														52			14		0	0	0.004007	0	0
SMG6	23293	broad.mit.edu	37	17	2186922	2186922	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:2186922C>T	uc002fub.1	-	6	2500	c.2445G>A	c.(2443-2445)cgG>cgA	p.R815R	SMG6_uc002fud.2_Silent_p.R784R	NM_017575	NP_060045	Q86US8	EST1A_HUMAN	Homo sapiens smg-6 homolog, nonsense mediated mRNA decay factor (C. elegans) (SMG6), transcript variant 1, mRNA.	815					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance	chromosome, telomeric region|cytosol|nucleolus|telomerase holoenzyme complex	endoribonuclease activity|metal ion binding|protein binding|telomeric DNA binding	p.R815W(1)		NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						CACTCACCTTCCGCTTGGTCT	0.532000														52			9		0	0	0.006214	0	0
OBFC2B	79035	broad.mit.edu	37	12	56622898	56622898	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:56622898C>T	uc001skk.3	+	5	671	c.612C>T	c.(610-612)atC>atT	p.I204I	OBFC2B_uc001ski.3_Silent_p.I179I	NM_024068	NP_076973	Q9BQ15	SOSB1_HUMAN	Homo sapiens oligonucleotide/oligosaccharide-binding fold containing 2B (OBFC2B), mRNA.	179					G2/M transition checkpoint|double-strand break repair via homologous recombination|response to ionizing radiation	SOSS complex	protein binding|single-stranded DNA binding			endometrium(1)|lung(1)|ovary(1)|skin(2)	5						GCACCCGAATCACTCGAAGCC	0.617000								Other identified genes with known or suspected DNA repair function						37			18		0	0	0.006122	0	0
KANK4	163782	broad.mit.edu	37	1	62728940	62728940	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:62728940G>A	uc001dah.4	-	6	2740	c.2363C>T	c.(2362-2364)tCc>tTc	p.S788F	KANK4_uc001dai.4_Missense_Mutation_p.S160F|KANK4_uc001daf.4_5'UTR|KANK4_uc001dag.4_Missense_Mutation_p.S144F	NM_181712	NP_859063	Q5T7N3	KANK4_HUMAN	Homo sapiens KN motif and ankyrin repeat domains 4 (KANK4), mRNA.	788										NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						CTTCCGGCTGGAGACGCGGAA	0.572000														19			7		0	0	0.003080	0	0
DST	667	broad.mit.edu	37	6	56501404	56501404	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:56501404A>C	uc003pcy.4	-	8	1508	c.1400T>G	c.(1399-1401)cTc>cGc	p.L467R	DST_uc021zay.1_Missense_Mutation_p.L833R|DST_uc021zax.1_Missense_Mutation_p.L467R|DST_uc003pdc.4_Missense_Mutation_p.L467R|DST_uc003pdd.4_Missense_Mutation_p.L467R	NM_015548	NP_056363	Q03001	DYST_HUMAN	Homo sapiens dystonin (DST), transcript variant 1eA, mRNA.	793					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	Z disc|actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein C-terminus binding|protein binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			ACACTGGCAGAGCTGTAAGAT	0.443000														92			31		0	0	0.002836	0	0
FAM129B	64855	broad.mit.edu	37	9	130279140	130279140	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:130279140G>A	uc004brh.3	-	7	1171	c.969C>T	c.(967-969)atC>atT	p.I323I	FAM129B_uc004bri.3_Silent_p.I310I|FAM129B_uc004brj.4_Silent_p.I323I	NM_022833	NP_073744	Q96TA1	NIBL1_HUMAN	Homo sapiens family with sequence similarity 129, member B (FAM129B), transcript variant 1, mRNA.	323							protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						GCCTACCTCGGATCTTGCTGG	0.547000														275			91		0	0	0.003610	0	0
SOS1	6654	broad.mit.edu	37	2	39213170	39213170	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:39213170G>A	uc002rrk.4	-	22	3838	c.3797C>T	c.(3796-3798)cCt>cTt	p.P1266L	SOS1_uc002rrj.4_Missense_Mutation_p.P865L	NM_005633	NP_005624	Q07889	SOS1_HUMAN	Homo sapiens son of sevenless homolog 1 (Drosophila) (SOS1), mRNA.	1266					Ras protein signal transduction|apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	cytosol	DNA binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				TGTGCCGTGAGGAGAAGGTGT	0.532000									Noonan syndrome					75			37		0	0	0.003755	0	0
SYT10	341359	broad.mit.edu	37	12	33579230	33579230	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:33579230C>T	uc001rll.1	-	1	649	c.352G>A	c.(352-354)Gaa>Aaa	p.E118K	SYT10_uc009zju.1_5'UTR	NM_198992	NP_945343	Q6XYQ8	SYT10_HUMAN	Homo sapiens synaptotagmin X (SYT10), mRNA.	118						cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					TTTTCATTTTCCTTAATTTCT	0.408000														85			42		0	0	0.006230	0	0
DSCAML1	57453	broad.mit.edu	37	11	117329477	117329477	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:117329477C>T	uc001prh.1	-	18	3743	c.3741G>A	c.(3739-3741)aaG>aaA	p.K1247K		NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Homo sapiens Down syndrome cell adhesion molecule like 1 (DSCAML1), mRNA.	1187	Fibronectin type-III 4.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		CACCGTCCTCCTTGGTCTGGA	0.647000														19			7		0	0	0.003080	0	0
SMARCA4	6597	broad.mit.edu	37	19	11144843	11144843	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:11144843C>T	uc010dxp.3	+	28	4278	c.3918C>T	c.(3916-3918)atC>atT	p.I1306I	SMARCA4_uc010dxo.3_Silent_p.I1306I|SMARCA4_uc002mqf.4_Silent_p.I1306I|SMARCA4_uc010dxq.3_Silent_p.I1273I|SMARCA4_uc010dxr.3_Silent_p.I1273I|SMARCA4_uc002mqj.4_Silent_p.I1273I|SMARCA4_uc010dxs.3_Silent_p.I1273I|SMARCA4_uc010dxt.1_Silent_p.I493I|SMARCA4_uc002mqh.4_Silent_p.I396I|SMARCA4_uc002mqi.1_Silent_p.I476I	NM_001128844	NP_003063	P51532	SMCA4_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 (SMARCA4), transcript variant 2, mRNA.	1306					chromatin remodeling|negative regulation of S phase of mitotic cell cycle|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex|WINAC complex|nBAF complex|npBAF complex|nuclear chromatin	ATP binding|DNA binding|DNA-dependent ATPase activity|androgen receptor binding|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				ACCAGATGATCGCCCGGCACG	0.617000			"""F, N, Mis"""		NSCLC									30			25		0	0	0.005443	0	0
PRDM10	56980	broad.mit.edu	37	11	129795112	129795112	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:129795112G>A	uc001qfm.3	-	12	1787	c.1555C>T	c.(1555-1557)Cag>Tag	p.Q519*	PRDM10_uc001qfj.3_Nonsense_Mutation_p.Q433*|PRDM10_uc001qfk.3_Nonsense_Mutation_p.Q429*|PRDM10_uc001qfl.3_Nonsense_Mutation_p.Q433*|PRDM10_uc010sbx.2_Nonsense_Mutation_p.Q429*|PRDM10_uc001qfn.3_Nonsense_Mutation_p.Q515*	NM_020228	NP_064613	Q9NQV6	PRD10_HUMAN	Homo sapiens PR domain containing 10 (PRDM10), transcript variant 1, mRNA.	519					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		AACAGATGCTGAAGAGCTGCA	0.433000														31			18		0	0	0.006122	0	0
C1orf172	126695	broad.mit.edu	37	1	27278511	27278512	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:27278511_27278512CC>TT	uc001bni.2	-	1	453_454	c.360_361GG>AA	c.(358-363)gagggg>gaAAgg	p.G121R	BC016143_uc021ojq.1_Intron	NM_152365	NP_689578	Q8NAX2	CA172_HUMAN	Homo sapiens chromosome 1 open reading frame 172 (C1orf172), mRNA.	121										NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.37e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.22e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)		TCAGCAGTCCCCTCAGTGGAGT	0.673000														7			10		0	0	0.004672	0	0
FOXO4	4303	broad.mit.edu	37	X	70321417	70321417	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chrX:70321417C>T	uc004dys.2	+	1	1717	c.1337C>T	c.(1336-1338)cCc>cTc	p.P446L	FOXO4_uc004dyt.2_Missense_Mutation_p.P391L	NM_005938	NP_005929	P98177	FOXO4_HUMAN	Homo sapiens forkhead box O4 (FOXO4), transcript variant 1, mRNA.	446					G1 phase of mitotic cell cycle|cell cycle arrest|cell differentiation|embryo development|insulin receptor signaling pathway|mitotic cell cycle G2/M transition DNA damage checkpoint|muscle organ development|negative regulation of angiogenesis|negative regulation of cell proliferation|negative regulation of smooth muscle cell differentiation|nerve growth factor receptor signaling pathway|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytosol|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase 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			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)	18	Renal(35;0.156)					GCCCCCATCCCCAAGGCTCTG	0.567000														7			25		0	0	0.002780	0	0
COPS2	9318	broad.mit.edu	37	15	49447856	49447856	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:49447856C>T	uc001zxh.3	-	1	1	c.-78_splice	c.e1-1		GALK2_uc001zxi.1_5'Flank|COPS2_uc001zxf.3_Splice_Site|COPS2_uc010ufa.2_Splice_Site|LOC100306975_uc021sks.1_5'Flank	NM_001143887	NP_001137359	P61201	CSN2_HUMAN	Homo sapiens COP9 constitutive photomorphogenic homolog subunit 2 (Arabidopsis) (COPS2), transcript variant 2, mRNA.						cullin deneddylation|transcription from RNA polymerase II promoter	cytoplasm|signalosome	protein binding|signal transducer activity			cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|prostate(1)|skin(2)	18		all_lung(180;0.0428)		all cancers(107;1.34e-07)|GBM - Glioblastoma multiforme(94;3.02e-05)		CTCTCAGCTTCTTTCCGCCTT	0.542000														6			4		0	0	0.000248	0	0
MARS	4141	broad.mit.edu	37	12	57905630	57905630	+	Silent	SNP	C	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:57905630C>A	uc001sog.3	+	11	1672	c.1518C>A	c.(1516-1518)ccC>ccA	p.P506P	MARS_uc001sof.1_Non-coding_Transcript|MARS_uc010srp.1_Silent_p.P379P|MARS_uc010srq.1_Silent_p.P272P|MARS_uc001soh.1_5'Flank	NM_004990	NP_004981	P56192	SYMC_HUMAN	Homo sapiens methionyl-tRNA synthetase (MARS), mRNA.	506					methionyl-tRNA aminoacylation	cytosol	ATP binding|methionine-tRNA ligase activity|protein binding|tRNA binding			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	33			GBM - Glioblastoma multiforme(3;4.27e-41)		L-Methionine(DB00134)	CCCCTGTACCCTTAGAAGGTT	0.478000														18			9		3.09899e-07	3.73866e-07	0.004482	1	0
PCDHAC2	56134	broad.mit.edu	37	5	140181759	140181759	+	Missense_Mutation	SNP	G	A	A	rs148196865		TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:140181759G>A	uc003lhf.2	+	0	977	c.977G>A	c.(976-978)gGa>gAa	p.G326E	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc011czy.2_Intron|PCDHAC2_uc011czz.2_Missense_Mutation_p.G326E	NM_018906	NP_061729	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 3 (PCDHA3), transcript variant 1, mRNA.	341	Cadherin 3.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.G326E(1)		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)			ACGGATAAAGGAAATCCCCCA	0.378000														49			24		0	0	0.003954	0	0
OR3A4P	390756	broad.mit.edu	37	17	3214091	3214092	+	Missense_Mutation	DNP	AC	TT	TT			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:3214091_3214092AC>TT	uc002fvi.2	+	0	553_554	c.487_488AC>TT	c.(487-489)act>TTt	p.T163F						Homo sapiens olfactory receptor, family 3, subfamily A, member 4 pseudogene (OR3A4P), non-coding RNA.																		ACTGACCCAAACTGTTGCCCTG	0.545000														54			37		0	0	0.004672	0	0
SCN1A	6323	broad.mit.edu	37	2	166848493	166848493	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:166848493G>A	uc002udo.4	-	27	5519	c.5292C>T	c.(5290-5292)ttC>ttT	p.F1764F	SCN1A_uc010fpk.3_Silent_p.F1736F|SCN1A_uc021vsb.1_Silent_p.F1753F	NM_001202435	NP_001189364	P35498	SCN1A_HUMAN	Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA.	1764						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)	TGACAAAAAAGAAAATTCCAA	0.453000														81			20		0	0	0.002299	0	0
YES1	7525	broad.mit.edu	37	18	747963	747963	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr18:747963G>A	uc002kky.3	-	3	648	c.427C>T	c.(427-429)Ccg>Tcg	p.P143S	YES1_uc002kkz.3_Missense_Mutation_p.P143S	NM_005433	NP_005424	P07947	YES_HUMAN	Homo sapiens v-yes-1 Yamaguchi sarcoma viral oncogene homolog 1 (YES1), mRNA.	143	SH3.				T cell costimulation|blood coagulation|leukocyte migration|regulation of vascular permeability	cytosol|plasma membrane	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(1)	17					Dasatinib(DB01254)	TAATTGCTCGGGATATAACCA	0.393000														175			62		0	0	0.003610	0	0
MLL2	8085	broad.mit.edu	37	12	49433611	49433611	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:49433611G>A	uc001rta.4	-	30	7942	c.7942C>T	c.(7942-7944)Cca>Tca	p.P2648S		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	2648					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						CCAGTCCCTGGGTCTTCTCGC	0.602000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)				18			14		0	0	0.003163	0	0
QSER1	79832	broad.mit.edu	37	11	32955488	32955488	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:32955488C>T	uc001mty.3	+	3	2564	c.2297C>T	c.(2296-2298)cCc>cTc	p.P766L	QSER1_uc001mtz.1_Missense_Mutation_p.P527L|QSER1_uc001mua.3_Missense_Mutation_p.P271L	NM_001076786	NP_001070254	Q2KHR3	QSER1_HUMAN	Homo sapiens glutamine and serine rich 1 (QSER1), mRNA.	766	Gln-rich.									breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					ATAGTACATCCCTTCCTTCAG	0.408000														93			39		0	0	0.003610	0	0
FAM135B	51059	broad.mit.edu	37	8	139163756	139163756	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:139163756T>G	uc003yuy.3	-	12	3133	c.2962A>C	c.(2962-2964)Act>Cct	p.T988P	FAM135B_uc003yux.3_Missense_Mutation_p.T889P|FAM135B_uc003yuz.3_Non-coding_Transcript|FAM135B_uc003yva.3_Missense_Mutation_p.T550P|FAM135B_uc003yvb.3_Missense_Mutation_p.T550P	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA.	988								p.T988T(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)			TGGGTCACAGTGGGGCACACA	0.493000										HNSCC(54;0.14)				31			14		0	0	0.002450	0	0
TMCO5A	145942	broad.mit.edu	37	15	38243296	38243296	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:38243296T>G	uc001zjw.3	+	10	830	c.728T>G	c.(727-729)tTt>tGt	p.F243C	TMCO5A_uc001zjv.1_Intron	NM_152453	NP_689666	Q8N6Q1	TMC5A_HUMAN	Homo sapiens transmembrane and coiled-coil domains 5A (TMCO5A), mRNA.	243						integral to membrane				central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	15						AGCTACATGTTTTTTCATGTA	0.408000														73			12		0	0	0.000978	0	0
FOXN2	3344	broad.mit.edu	37	2	48573700	48573700	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:48573700C>T	uc002rwh.1	+	2	662	c.347C>T	c.(346-348)tCc>tTc	p.S116F		NM_002158	NP_002149	P32314	FOXN2_HUMAN	Homo sapiens forkhead box N2 (FOXN2), mRNA.	116					embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	13		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.0272)|LUSC - Lung squamous cell carcinoma(58;0.036)			CCCCCATACTCCTTTAGTCTT	0.403000														91			27		0	0	0.007291	0	0
GPR112	139378	broad.mit.edu	37	X	135453592	135453592	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chrX:135453592C>T	uc004ezu.1	+	13	7793	c.7502C>T	c.(7501-7503)tCa>tTa	p.S2501L	GPR112_uc010nsb.1_Missense_Mutation_p.S2296L	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA.	2501					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)					TCAGATATTTCACAATGTGAT	0.338000														11			27		0	0	0.004656	0	0
BAI3	577	broad.mit.edu	37	6	70070979	70070979	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:70070979A>C	uc010kak.3	+	27	4090	c.3814A>C	c.(3814-3816)Aaa>Caa	p.K1272Q	BAI3_uc003pev.4_Missense_Mutation_p.K1272Q|BAI3_uc011dxx.2_Missense_Mutation_p.K478Q	NM_001704	NP_001695	O60242	BAI3_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 3 (BAI3), mRNA.	1272					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				ATGTTTGAAAAAAGAAAATAG	0.408000														38			15		0	0	0.004007	0	0
CCDC73	493860	broad.mit.edu	37	11	32636158	32636158	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:32636158A>G	uc001mtv.3	-	15	1750	c.1706T>C	c.(1705-1707)gTt>gCt	p.V569A		NM_001008391	NP_001008392	Q6ZRK6	CCD73_HUMAN	Homo sapiens coiled-coil domain containing 73 (CCDC73), mRNA.	569										NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					GTTATTTTCAACCTCCAGATT	0.289000														47			24		0	0	0.003330	0	0
MYH8	4626	broad.mit.edu	37	17	10304075	10304075	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:10304075C>T	uc002gmm.2	-	26	3462	c.3367G>A	c.(3367-3369)Gaa>Aaa	p.E1123K	AK097500_uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA.	1123					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						TCGATTTCTTCCCCCAGCTCC	0.522000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling					48			9		0	0	0.008291	0	0
BIRC6	57448	broad.mit.edu	37	2	32740464	32740464	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:32740464T>A	uc010ezu.3	+	54	11110	c.10976T>A	c.(10975-10977)aTt>aAt	p.I3659N		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	Homo sapiens baculoviral IAP repeat containing 6 (BIRC6), mRNA.	3659					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	p.L3659R(1)		NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					TCAATAGATATTTCCCAGGAC	0.438000														18			11		0	0	0.008291	0	0
GLRA2	2742	broad.mit.edu	37	X	14748587	14748587	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chrX:14748587G>A	uc010neq.3	+	8	2099	c.1339G>A	c.(1339-1341)Gaa>Aaa	p.E447K	GLRA2_uc004cwe.4_Missense_Mutation_p.E447K|GLRA2_uc011mio.2_Missense_Mutation_p.E358K|GLRA2_uc010nep.3_Missense_Mutation_p.E447K|GLRA2_uc011mip.2_Missense_Mutation_p.E425K	NM_002063	NP_002054	P23416	GLRA2_HUMAN	Homo sapiens glycine receptor, alpha 2 (GLRA2), transcript variant 1, mRNA.	447					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)	CATTCGGCATGAAGATGTCCA	0.433000														28			49		0	0	0.003610	0	0
WDR4	10785	broad.mit.edu	37	21	44283681	44283681	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr21:44283681G>A	uc002zci.3	-	3	395	c.322C>T	c.(322-324)Ctg>Ttg	p.L108L	WDR4_uc002zck.1_Silent_p.L108L|WDR4_uc002zcl.1_5'UTR|WDR4_uc010gpg.1_Silent_p.L108L|WDR4_uc011aew.1_5'UTR|WDR4_uc010gph.1_5'UTR	NM_033661	NP_387510	P57081	WDR4_HUMAN	Homo sapiens WD repeat domain 4 (WDR4), transcript variant 2, mRNA.	108					tRNA modification	cytoplasm|nucleoplasm	protein binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|ovary(2)	11				Colorectal(79;0.0165)|Lung(125;0.0484)|STAD - Stomach adenocarcinoma(101;0.0624)|COAD - Colon adenocarcinoma(84;0.128)|LUSC - Lung squamous cell carcinoma(216;0.244)		ATGAAAGTCAGGGCTGTACAC	0.602000														31			13		0	0	0.003163	0	0
CXXC1	30827	broad.mit.edu	37	18	47811704	47811704	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr18:47811704G>A	uc002leq.4	-	5	1390	c.657C>T	c.(655-657)ttC>ttT	p.F219F	CXXC1_uc002lep.4_Silent_p.F76F|CXXC1_uc002ler.4_Silent_p.F219F|CXXC1_uc010doy.3_Silent_p.F219F	NM_014593	NP_055408	Q9P0U4	CXXC1_HUMAN	Homo sapiens CXXC finger protein 1 (CXXC1), transcript variant 2, mRNA.	219					histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	Set1C/COMPASS complex|nuclear speck	protein binding|unmethylated CpG binding|zinc ion binding	p.F219L(2)		autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	24						CCGAGGAAGGGAAGTACTTGT	0.677000														25			13		0	0	0.007413	0	0
FMN2	56776	broad.mit.edu	37	1	240601493	240601493	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:240601493A>C	uc010pye.2	+	16	5280	c.5055A>C	c.(5053-5055)aaA>aaC	p.K1685N	FMN2_uc010pyd.2_Missense_Mutation_p.K1681N|FMN2_uc010pyg.2_Missense_Mutation_p.K277N	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	Homo sapiens formin 2 (FMN2), mRNA.	1681	FH2.				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)			AAGAGAACAAACTTCTTCTAC	0.403000														68			23		0	0	0.003330	0	0
MAT1A	4143	broad.mit.edu	37	10	82043777	82043777	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:82043777C>G	uc001kbw.3	-	2	442	c.187G>C	c.(187-189)Ggc>Cgc	p.G63R		NM_000429	NP_000420	Q00266	METK1_HUMAN	Homo sapiens methionine adenosyltransferase I, alpha (MAT1A), mRNA.	63					S-adenosylmethionine biosynthetic process|methylation|xenobiotic metabolic process	cytosol	ATP binding|metal ion binding|methionine adenosyltransferase activity			endometrium(4)|large_intestine(7)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26			Colorectal(32;0.229)		L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	AGCACCATGCCGGTCTTGCAC	0.577000														14			6		0	0	0.001168	0	0
TNN	63923	broad.mit.edu	37	1	175097181	175097181	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:175097181G>A	uc001gkl.1	+	13	3172	c.3059G>A	c.(3058-3060)gGa>gAa	p.G1020E		NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	Homo sapiens tenascin N (TNN), mRNA.	1020	Fibronectin type-III 9.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		p.G1020A(2)		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)		ATGCAGCTGGGACGGGAAGAC	0.547000														29			18		0	0	0.007413	0	0
COBL	23242	broad.mit.edu	37	7	51096438	51096438	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:51096438C>T	uc003tps.3	-	10	2711	c.2526G>A	c.(2524-2526)gaG>gaA	p.E842E	COBL_uc003tpr.4_Silent_p.E785E|COBL_uc011kcl.2_Silent_p.E785E|COBL_uc003tpp.4_Silent_p.E571E|COBL_uc003tpq.4_Silent_p.E726E|COBL_uc003tpo.4_Silent_p.E327E	NM_015198	NP_056013	O75128	COBL_HUMAN	Homo sapiens cordon-bleu homolog (mouse) (COBL), mRNA.	785										NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					TGGCAGAGCTCTCTGAGGGTC	0.587000														26			7		0	0	0.001984	0	0
ERMP1	79956	broad.mit.edu	37	9	5797900	5797900	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:5797900G>A	uc003zjm.1	-	12	2357	c.2303C>T	c.(2302-2304)tCt>tTt	p.S768F	ERMP1_uc022bdc.1_Non-coding_Transcript|ERMP1_uc022bdd.1_Non-coding_Transcript|ERMP1_uc010mhs.1_Missense_Mutation_p.S382F	NM_024896	NP_079172	Q7Z2K6	ERMP1_HUMAN	Homo sapiens endoplasmic reticulum metallopeptidase 1 (ERMP1), mRNA.	768					proteolysis	endoplasmic reticulum membrane|integral to membrane	metal ion binding|metallopeptidase activity			endometrium(2)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|skin(1)	20		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00115)|Lung(218;0.111)		ATTTCTTGGAGAAACTTCTGG	0.373000														130			43		0	0	0.003214	0	0
FOCAD	54914	broad.mit.edu	37	9	20990235	20990235	+	Silent	SNP	T	C	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:20990235T>C	uc003zog.1	+	43	5481	c.5118T>C	c.(5116-5118)aaT>aaC	p.N1706N	FOCAD_uc003zoh.1_Silent_p.N1142N	NM_017794	NP_060264	Q5VW36	K1797_HUMAN	Homo sapiens KIAA1797 (KIAA1797), mRNA.	1706						integral to membrane	binding										ATCAGGAGAATGGCCCGGCTG	0.582000														17			14		0	0	0.003163	0	0
PGLYRP3	114771	broad.mit.edu	37	1	153271646	153271646	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:153271646G>A	uc001fbn.1	-	5	843	c.790C>T	c.(790-792)Cac>Tac	p.H264Y		NM_052891	NP_443123	Q96LB9	PGRP3_HUMAN	Homo sapiens peptidoglycan recognition protein 3 (PGLYRP3), mRNA.	264	Interaction with murein.				defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(1)|liver(1)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	28	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)			CCATAAGTGTGAGAGCCTTGG	0.522000														24			6		0	0	0.001984	0	0
TP53TG5	27296	broad.mit.edu	37	20	44003911	44003911	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr20:44003911G>A	uc002xny.3	-	3	617	c.536C>T	c.(535-537)aCc>aTc	p.T179I	SYS1_uc002xnw.2_3'UTR|DBNDD2_uc002xnx.3_Intron	NM_014477	NP_055292	Q9Y2B4	T53G5_HUMAN	Homo sapiens TP53 target 5 (TP53TG5), mRNA.	179					intracellular signal transduction|negative regulation of cell growth	cytoplasm|nucleus				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)	12						GGGGCCCTCGGTGAGTGGTTG	0.552000														92			29		0	0	0.007291	0	0
XPO4	64328	broad.mit.edu	37	13	21382648	21382648	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr13:21382648C>T	uc001unq.4	-	11	1602	c.1566G>A	c.(1564-1566)ccG>ccA	p.P522P		NM_022459	NP_071904	Q9C0E2	XPO4_HUMAN	Homo sapiens exportin 4 (XPO4), mRNA.	522					protein transport	cytoplasm|nucleus	protein binding			breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	41		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)		TGCTTGAACCCGGTGAAGCAA	0.363000														35			19		0	0	0.006122	0	0
MTMR14	64419	broad.mit.edu	37	3	9719716	9719716	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:9719716C>T	uc003brz.3	+	8	1022	c.871C>T	c.(871-873)Ctg>Ttg	p.L291L	MTMR14_uc003bsa.3_Silent_p.L291L|MTMR14_uc003bsb.3_Silent_p.L291L|MTMR14_uc011ath.2_Intron|MTMR14_uc010hcl.3_Intron|MTMR14_uc003bsc.3_Non-coding_Transcript	NM_001077525	NP_001070993	Q8NCE2	MTMRE_HUMAN	Homo sapiens myotubularin related protein 14 (MTMR14), transcript variant 2, mRNA.	291						perinuclear region of cytoplasm|ruffle	phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(2)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	21	Medulloblastoma(99;0.227)					GACTCACTCTCTGAACATTGA	0.557000														24			31		0	0	0.004289	0	0
HTR7	3363	broad.mit.edu	37	10	92509249	92509249	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:92509249G>A	uc001kha.3	-	1	885	c.642C>T	c.(640-642)acC>acT	p.T214T	HTR7_uc001kgz.3_Silent_p.T214T|HTR7_uc001khb.3_Silent_p.T214T	NM_019859	NP_062873	P34969	5HT7R_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 7 (adenylate cyclase-coupled) (HTR7), transcript variant d, mRNA.	214					blood circulation|circadian rhythm	integral to plasma membrane	protein binding|serotonin receptor activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30					Eletriptan(DB00216)|Methysergide(DB00247)|Ziprasidone(DB00246)	GTGGAGGTAAGGTGATGGAGG	0.502000														59			39		0	0	0.004289	0	0
ZNF124	7678	broad.mit.edu	37	1	247320008	247320008	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:247320008G>A	uc001ick.3	-	3	1055	c.916C>T	c.(916-918)Cgt>Tgt	p.R306C	ZNF124_uc001ici.3_Intron|ZNF124_uc001icj.1_Missense_Mutation_p.R244C	NM_003431	NP_003422	Q15973	ZN124_HUMAN	Homo sapiens zinc finger protein 124 (ZNF124), transcript variant 1, mRNA.	306					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R244C(1)		biliary_tract(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(3)|urinary_tract(2)	14	all_cancers(71;5.07e-05)|all_epithelial(71;8.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0488)|Lung NSC(105;0.053)		OV - Ovarian serous cystadenocarcinoma(106;0.00739)			TCATGGTCACGAAGGGAACTG	0.418000														39			21		0	0	0.003954	0	0
SPINK5	11005	broad.mit.edu	37	5	147449990	147449990	+	Silent	SNP	A	G	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:147449990A>G	uc003lox.2	+	2	259	c.186A>G	c.(184-186)aaA>aaG	p.K62K	SPINK5_uc010jgq.1_Non-coding_Transcript|SPINK5_uc010jgs.1_Silent_p.K34K|SPINK5_uc010jgr.2_Silent_p.K43K|SPINK5_uc003low.2_Silent_p.K62K|SPINK5_uc003loy.2_Silent_p.K62K	NM_006846	NP_006837	Q9NQ38	ISK5_HUMAN	Homo sapiens serine peptidase inhibitor, Kazal type 5 (SPINK5), transcript variant 2, mRNA.	62	Kazal-like 1; atypical.				anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation	cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm	serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCATCAATAAATGTGCCACGT	0.333000														78			39		0	0	0.002222	0	0
FCRL5	83416	broad.mit.edu	37	1	157514284	157514284	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:157514284C>T	uc009wsm.3	-	4	770	c.612G>A	c.(610-612)ggG>ggA	p.G204G	FCRL5_uc001fqu.3_Silent_p.G204G|FCRL5_uc010phv.1_Silent_p.G204G|FCRL5_uc010phw.1_Silent_p.G119G|FCRL5_uc001fqv.1_Silent_p.G204G|FCRL5_uc010phx.2_5'UTR	NM_001195388	NP_001182317	Q96RD9	FCRL5_HUMAN	Homo sapiens Fc receptor-like 5 (FCRL5), transcript variant 2, mRNA.	204	Ig-like C2-type 2.					integral to membrane|plasma membrane	receptor activity	p.G204W(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				TCACTGGGTTCCCGCTGATGG	0.562000														76			23		0	0	0.003954	0	0
KSR2	283455	broad.mit.edu	37	12	118199001	118199001	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:118199001G>A	uc001two.2	-	3	769	c.714C>T	c.(712-714)atC>atT	p.I238I		NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN	Homo sapiens kinase suppressor of ras 2 (KSR2), mRNA.	267	Pro-rich.				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)					CGGTGGTGACGATGTTGGGGG	0.721000														127			65		0	0	0.003610	0	0
CPAMD8	27151	broad.mit.edu	37	19	17081754	17081754	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:17081754G>A	uc002nfb.3	-	17	2333	c.2301C>T	c.(2299-2301)ttC>ttT	p.F767F		NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	Homo sapiens C3 and PZP-like, alpha-2-macroglobulin domain containing 8 (CPAMD8), mRNA.	720						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						TGTGGGGCTGGAAAGCGGGGA	0.597000														30			22		0	0	0.002299	0	0
KDM5B	10765	broad.mit.edu	37	1	202705423	202705423	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:202705423G>A	uc009xag.3	-	21	3406	c.3290C>T	c.(3289-3291)aCc>aTc	p.T1097I	KDM5B_uc001gyf.3_Missense_Mutation_p.T1061I|KDM5B_uc001gyg.1_Missense_Mutation_p.T903I	NM_006618	NP_006609	Q9UGL1	KDM5B_HUMAN	Homo sapiens lysine (K)-specific demethylase 5B (KDM5B), mRNA.	1061					negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						AGCTACTAGGGTTTCCAGTCT	0.443000														27			9		0	0	0.004482	0	0
KCNA4	3739	broad.mit.edu	37	11	30033267	30033267	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:30033267G>A	uc021qfi.1	-	0	959	c.959C>T	c.(958-960)tCc>tTc	p.S320F	KCNA4_uc001msk.3_Missense_Mutation_p.S320F	NM_002233	NP_002224	P22459	KCNA4_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 4 (KCNA4), mRNA.	320						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity	p.S320Y(2)|p.S320S(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						GATGACAATGGAGATTAAGAT	0.483000														45			25		0	0	0.006320	0	0
ABCC6	368	broad.mit.edu	37	16	16278880	16278880	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:16278880C>T	uc002den.4	-	14	1916	c.1879G>A	c.(1879-1881)Gat>Aat	p.D627N	ABCC6_uc010bvo.3_Non-coding_Transcript|ABCC6_uc010uzz.1_Missense_Mutation_p.D639N	NM_001171	NP_001162	O95255	MRP6_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 6 (ABCC6), transcript variant 1, mRNA.	627					response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		GTGATGCAATCCTTCCCGGCA	0.632000														36			12		0	0	0.001368	0	0
FBF1	85302	broad.mit.edu	37	17	73908303	73908303	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:73908303C>T	uc002jqc.3	-	27	3562	c.3288G>A	c.(3286-3288)agG>agA	p.R1096R	FBF1_uc002jqa.1_Non-coding_Transcript|FBF1_uc010wsp.2_Silent_p.R1087R|MRPL38_uc002jpz.1_5'Flank|FBF1_uc002jqb.3_Non-coding_Transcript|FBF1_uc010dgr.2_Silent_p.R406R	NM_001080542	NP_001074011	A6NLR5	A6NLR5_HUMAN	Homo sapiens Fas (TNFRSF6) binding factor 1 (FBF1), mRNA.	1096										large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	4						GCAGTGCCAGCCTGGCATGGA	0.647000														18			9		0	0	0.008291	0	0
GRIK3	2899	broad.mit.edu	37	1	37267627	37267628	+	Missense_Mutation	DNP	AC	GT	GT			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:37267627_37267628AC>GT	uc001caz.2	-	15	2719_2720	c.2584_2585GT>AC	c.(2584-2586)gtg>ACg	p.V862T		NM_000831	NP_000822	Q13003	GRIK3_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 3 (GRIK3), mRNA.	862					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	G-protein-coupled receptor binding|adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	CTCATCGGCCACGGTGCTGCAG	0.594000														18			7		0	0	0.004672	0	0
MAGI1	9223	broad.mit.edu	37	3	65415681	65415681	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:65415681C>T	uc003dmn.3	-	11	2207	c.1681G>A	c.(1681-1683)Gat>Aat	p.D561N	MAGI1_uc003dmm.3_Missense_Mutation_p.D561N|MAGI1_uc003dmo.3_Missense_Mutation_p.D561N|MAGI1_uc003dmp.3_Missense_Mutation_p.D561N|MAGI1_uc010hny.2_Missense_Mutation_p.D446N	NM_001033057	NP_001028229	Q96QZ7	MAGI1_HUMAN	Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 1 (MAGI1), transcript variant 3, mRNA.	561					cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		TCATCTGGATCAAAAGGCAAT	0.463000														49			37		0	0	0.002522	0	0
SEC23A	10484	broad.mit.edu	37	14	39508292	39508292	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:39508292G>A	uc001wup.1	-	18	2374	c.2151C>T	c.(2149-2151)ttC>ttT	p.F717F	SEC23A_uc010tqa.1_Silent_p.F603F|SEC23A_uc010tqb.1_Silent_p.F688F	NM_006364	NP_006355	Q15436	SC23A_HUMAN	Homo sapiens Sec23 homolog A (S. cerevisiae) (SEC23A), mRNA.	717					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|Golgi membrane|cytosol|smooth endoplasmic reticulum membrane	protein binding|zinc ion binding			kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(1)	23	Hepatocellular(127;0.213)		Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565)	GBM - Glioblastoma multiforme(112;0.0151)		TTGAAAGGAGGAAACGGGCCT	0.323000														59			26		0	0	0.004656	0	0
GRIK3	2899	broad.mit.edu	37	1	37267467	37267467	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:37267467G>A	uc001caz.2	-	15	2880	c.2745C>T	c.(2743-2745)gcC>gcT	p.A915A		NM_000831	NP_000822	Q13003	GRIK3_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 3 (GRIK3), mRNA.	915					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	G-protein-coupled receptor binding|adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	GGAACACAGGGGCTAAGGATG	0.612000														37			21		0	0	0.002780	0	0
ZNF488	118738	broad.mit.edu	37	10	48371385	48371385	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:48371385C>T	uc001jex.3	+	1	1015	c.853C>T	c.(853-855)Cgc>Tgc	p.R285C	ZNF488_uc021ppx.1_Missense_Mutation_p.R285C	NM_153034	NP_694579	Q96MN9	ZN488_HUMAN	Homo sapiens zinc finger protein 488 (ZNF488), mRNA.	285					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|ovary(2)	14						CCTGTCCTTTCGCCTAACGTC	0.592000														50			19		0	0	0.001523	0	0
PTGS1	5742	broad.mit.edu	37	9	125152536	125152536	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:125152536G>A	uc004bmg.1	+	9	1491	c.1356G>A	c.(1354-1356)agG>agA	p.R452R	PTGS1_uc011lys.1_Silent_p.R390R|PTGS1_uc010mwb.1_Silent_p.R306R|PTGS1_uc004bmf.1_Silent_p.R415R|PTGS1_uc004bmh.1_Silent_p.R343R|PTGS1_uc011lyt.1_Silent_p.R343R	NM_000962	NP_000953	P23219	PGH1_HUMAN	Homo sapiens prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase) (PTGS1), transcript variant 1, mRNA.	452					cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	Golgi apparatus|endoplasmic reticulum membrane|microsome|plasma membrane	heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500)|gamma-Homolinolenic acid(DB00154)	ATGTCATCAGGGAGTCTCGGG	0.592000														32			19		0	0	0.002299	0	0
ULK4	54986	broad.mit.edu	37	3	41949419	41949419	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:41949419G>A	uc003ckv.4	-	11	1301	c.1100C>T	c.(1099-1101)cCc>cTc	p.P367L	ULK4_uc003ckw.2_Missense_Mutation_p.P367L|ULK4_uc003ckx.1_Missense_Mutation_p.P367L	NM_017886	NP_060356	Q96C45	ULK4_HUMAN	Homo sapiens unc-51-like kinase 4 (C. elegans) (ULK4), mRNA.	367							ATP binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		GCTAGTTCTGGGAGTAGGACG	0.418000														64			42		0	0	0.003610	0	0
CCDC19	25790	broad.mit.edu	37	1	159842754	159842754	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:159842754C>T	uc001fui.3	-	10	1575	c.1557G>A	c.(1555-1557)agG>agA	p.R519R	CCDC19_uc009wtb.3_Non-coding_Transcript|CCDC19_uc001fuk.3_Silent_p.R434R|CCDC19_uc001fuj.3_Non-coding_Transcript	NM_012337	NP_036469	Q9UL16	CCD19_HUMAN	Homo sapiens coiled-coil domain containing 19 (CCDC19), mRNA.	519						mitochondrion|soluble fraction				endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	26	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.151)			CAAGCTTTTTCCTCTTGATCT	0.562000														33			24		0	0	0.002780	0	0
BRD8	10902	broad.mit.edu	37	5	137476508	137476508	+	Silent	SNP	T	C	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:137476508T>C	uc003lcf.1	-	25	3556	c.3501A>G	c.(3499-3501)caA>caG	p.Q1167Q	NME5_uc003lce.3_5'Flank	NM_139199	NP_631938	Q9H0E9	BRD8_HUMAN	Homo sapiens bromodomain containing 8 (BRD8), transcript variant 2, mRNA.	1167	Bromo 2.				cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter	NuA4 histone acetyltransferase complex|mitochondrion	sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			CTCGCAGGAATTGGGCCATGG	0.458000														224			82		0	0	0.003610	0	0
KIAA0355	9710	broad.mit.edu	37	19	34833157	34833157	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:34833157C>T	uc002nvd.4	+	9	3177	c.2318C>T	c.(2317-2319)tCt>tTt	p.S773F		NM_014686	NP_055501	O15063	K0355_HUMAN	Homo sapiens KIAA0355 (KIAA0355), mRNA.	773										breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	41	Esophageal squamous(110;0.162)					GCAGGTCTGTCTCCTCTTGGT	0.577000														96			29		0	0	0.008361	0	0
NXPH4	11247	broad.mit.edu	37	12	57619147	57619147	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:57619147C>T	uc010srf.2	+	1	719	c.544C>T	c.(544-546)Ctg>Ttg	p.L182L	NXPH4_uc009zpj.3_5'UTR	NM_007224	NP_009155	O95158	NXPH4_HUMAN	Homo sapiens neurexophilin 4 (NXPH4), mRNA.	182	IV (linker domain).				neuropeptide signaling pathway	extracellular region				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)	10						TACGCTCGCCCTGGAGGGGGT	0.741000														54			23		0	0	0.002780	0	0
SCARA5	286133	broad.mit.edu	37	8	27729540	27729540	+	Nonsense_Mutation	SNP	C	A	A	rs141131600		TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:27729540C>A	uc003xgj.3	-	8	2010	c.1399G>T	c.(1399-1401)Gaa>Taa	p.E467*	SCARA5_uc010luz.3_Nonsense_Mutation_p.E242*	NM_173833	NP_776194	Q6ZMJ2	SCAR5_HUMAN	Homo sapiens scavenger receptor class A, member 5 (putative) (SCARA5), mRNA.	467	SRCR.				cellular iron ion homeostasis|endocytosis|iron ion transmembrane transport|protein homotrimerization	integral to plasma membrane	ferritin receptor activity|scavenger receptor activity			central_nervous_system(1)|large_intestine(6)|lung(5)|prostate(3)|skin(3)	18		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)|Colorectal(74;0.228)		AAGATGGTTTCCTCTGTGCCC	0.552000														34			16		1.02788e-11	1.24649e-11	0.004990	1	0
LRP1B	53353	broad.mit.edu	37	2	141260627	141260627	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:141260627C>T	uc002tvj.1	-	53	9539	c.8567G>A	c.(8566-8568)cGg>cAg	p.R2856Q		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	2856	LDL-receptor class A 19.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.G2855V(1)		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)		TAGAAGACACCGCCCATCAGC	0.393000										TSP Lung(27;0.18)				49			18		0	0	0.007413	0	0
LHX9	56956	broad.mit.edu	37	1	197896838	197896838	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:197896838C>T	uc001guk.1	+	3	1288	c.851C>T	c.(850-852)tCc>tTc	p.S284F	LHX9_uc001gui.1_Missense_Mutation_p.S275F|LHX9_uc021pgw.1_Non-coding_Transcript	NM_020204	NP_064589	Q9NQ69	LHX9_HUMAN	Homo sapiens LIM homeobox 9 (LHX9), transcript variant 1, mRNA.	284					motor axon guidance|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			endometrium(8)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|skin(1)|stomach(1)	35						ACCATGAAATCCTACTTTGCC	0.532000														61			21		0	0	0.001882	0	0
OFD1	8481	broad.mit.edu	37	X	13764499	13764499	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chrX:13764499C>T	uc004cvp.4	+	6	938	c.579C>T	c.(577-579)ttC>ttT	p.F193F	OFD1_uc004cvr.4_5'UTR|OFD1_uc011mil.2_5'UTR|OFD1_uc004cvq.4_Silent_p.F53F|OFD1_uc010nen.3_Silent_p.F192F|OFD1_uc004cvs.4_Non-coding_Transcript|OFD1_uc004cvu.4_Silent_p.F192F|OFD1_uc004cvv.4_Silent_p.F192F|OFD1_uc010neo.1_5'UTR	NM_003611	NP_003602	O75665	OFD1_HUMAN	Homo sapiens oral-facial-digital syndrome 1 (OFD1), mRNA.	193					G2/M transition of mitotic cell cycle|cilium movement involved in determination of left/right asymmetry	centriole|cilium|cytosol|microtubule basal body|nuclear membrane	alpha-tubulin binding|gamma-tubulin binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	25						GTATCAAGTTCGAATCTTTAG	0.338000														12			38		0	0	0.004289	0	0
BBS4	585	broad.mit.edu	37	15	73029894	73029894	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:73029894C>T	uc002avd.3	+	15	1888	c.1550C>T	c.(1549-1551)cCa>cTa	p.P517L	BBS4_uc010ukv.2_Missense_Mutation_p.P497L|BBS4_uc002avb.3_Missense_Mutation_p.P509L|BBS4_uc002avc.3_Missense_Mutation_p.P337L	NM_001252678	NP_001239607	Q96RK4	BBS4_HUMAN	Homo sapiens Bardet-Biedl syndrome 4 (BBS4), transcript variant 2, mRNA.	509	Required for localization to centrosomes.				adult behavior|brain morphogenesis|cell cycle cytokinesis|centrosome organization|cerebral cortex development|convergent extension involved in gastrulation|dendrite development|fat cell differentiation|heart looping|hippocampus development|intracellular transport|maintenance of protein location in nucleus|melanosome transport|microtubule anchoring at centrosome|neural tube closure|nonmotile primary cilium assembly|photoreceptor cell maintenance|pigment granule aggregation in cell center|positive regulation of flagellum assembly|regulation of cilium beat frequency involved in ciliary motility|regulation of cytokinesis|regulation of lipid metabolic process|retina homeostasis|retinal rod cell development|sensory perception of smell|sensory processing|spermatid development|striatum development	BBSome|centriolar satellite|centriole|cilium membrane|microtubule basal body|motile cilium|nonmotile primary cilium|nucleus|pericentriolar material	alpha-tubulin binding|beta-tubulin binding|dynactin binding|microtubule motor activity			autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(1)	19						GAATCAAGTCCAACTGAAACA	0.433000									Bardet-Biedl syndrome					15			4		0	0	0.000602	0	0
SNAP91	9892	broad.mit.edu	37	6	84417530	84417530	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:84417530T>A	uc021zcf.1	-	0	147	c.117A>T	c.(115-117)aaA>aaT	p.K39N	SNAP91_uc003pka.3_Missense_Mutation_p.K39N|SNAP91_uc011dze.2_Missense_Mutation_p.K39N|SNAP91_uc003pkc.3_Missense_Mutation_p.K39N|SNAP91_uc003pkd.3_Missense_Mutation_p.K39N|SNAP91_uc003pkb.3_5'UTR|SNAP91_uc011dzf.1_5'UTR	NM_014841	NP_055656	O60641	AP180_HUMAN	Homo sapiens synaptosomal-associated protein, 91kDa homolog (mouse) (SNAP91), transcript variant 1, mRNA.	39	ENTH.				clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		CCAGGTGCTTTTTCTTGGGGC	0.557000														72			18		0	0	0.001523	0	0
PRKAA2	5563	broad.mit.edu	37	1	57173217	57173217	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:57173217G>A	uc001cyk.4	+	8	1561	c.1490G>A	c.(1489-1491)aGa>aAa	p.R497K		NM_006252	NP_006243	P54646	AAPK2_HUMAN	Homo sapiens protein kinase, AMP-activated, alpha 2 catalytic subunit (PRKAA2), mRNA.	497					carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm	ATP binding|metal ion binding			breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23						GGCTTACACAGACCAAGATCA	0.458000														92			35		0	0	0.003755	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110453035	110453035	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:110453035G>A	uc003yne.3	+	32	4157	c.4053G>A	c.(4051-4053)agG>agA	p.R1351R		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	1351	IPT/TIG 7.				immune response	cytosol|extracellular space|integral to membrane	receptor activity	p.T1351T(1)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TCACCATAAGGGGTTTTGGAT	0.378000										HNSCC(38;0.096)				108			45		0	0	0.003610	0	0
CRIM1	51232	broad.mit.edu	37	2	36774301	36774301	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:36774301G>A	uc002rpd.3	+	15	2987	c.2921G>A	c.(2920-2922)cGa>cAa	p.R974Q		NM_016441	NP_057525	Q9NZV1	CRIM1_HUMAN	Homo sapiens cysteine rich transmembrane BMP regulator 1 (chordin-like) (CRIM1), mRNA.	974					nervous system development|regulation of cell growth	extracellular region|integral to membrane|plasma membrane	insulin-like growth factor binding|insulin-like growth factor receptor activity|serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	45		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)				TGCTGGTATCGAACACCAACT	0.368000														50			20		0	0	0.002299	0	0
FBXL18	80028	broad.mit.edu	37	7	5540617	5540617	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:5540617G>A	uc003soo.2	-	2	1377	c.1283C>T	c.(1282-1284)tCc>tTc	p.S428F	FBXL18_uc003son.4_Missense_Mutation_p.S428F	NM_024963	NP_079239	Q96ME1	FXL18_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 18 (FBXL18), mRNA.	428								p.S428S(1)	FBXL18/RNF216(2)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)	21		Ovarian(82;0.0607)		UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13)		gcgcggcgcggAGTCAGCGAC	0.736000														7			15		0	0	0.004007	0	0
KIF21A	55605	broad.mit.edu	37	12	39760883	39760883	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:39760883G>A	uc001rly.3	-	4	1104	c.684C>T	c.(682-684)gcC>gcT	p.A228A	KIF21A_uc001rlx.3_Silent_p.A228A|KIF21A_uc001rlz.3_Silent_p.A228A|KIF21A_uc010skl.2_Silent_p.A228A	NM_001173464	NP_001166935	Q7Z4S6	KI21A_HUMAN	Homo sapiens kinesin family member 21A (KIF21A), transcript variant 1, mRNA.	228	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				TGGTAAAAATGGCATGTGAAC	0.393000														44			13		0	0	0.001855	0	0
RSPRY1	89970	broad.mit.edu	37	16	57269052	57269052	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:57269052C>T	uc002elb.3	+	13	1824	c.1546C>T	c.(1546-1548)Ctg>Ttg	p.L516L	RSPRY1_uc002elc.3_Silent_p.L516L|RSPRY1_uc002eld.3_Silent_p.L516L	NM_133368	NP_588609	Q96DX4	RSPRY_HUMAN	Homo sapiens ring finger and SPRY domain containing 1 (RSPRY1), mRNA.	516						extracellular region	zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|urinary_tract(3)	27						GCGTCTTGCTCTGTTGAAGCA	0.418000														37			15		0	0	0.003163	0	0
DPYSL5	56896	broad.mit.edu	37	2	27150136	27150136	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:27150136G>A	uc002rhu.4	+	3	594	c.436G>A	c.(436-438)Gag>Aag	p.E146K	DPYSL5_uc002rhv.4_Missense_Mutation_p.E146K|DPYSL5_uc021vev.1_Missense_Mutation_p.E146K	NM_020134	NP_064519	Q9BPU6	DPYL5_HUMAN	Homo sapiens dihydropyrimidinase-like 5 (DPYSL5), transcript variant 1, mRNA.	146					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGCAGAAATGGAGACACTGGT	0.552000														12			8		0	0	0.003080	0	0
OR2J2	26707	broad.mit.edu	37	6	29141779	29141779	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:29141779C>T	uc011dlm.2	+	0	469	c.367C>T	c.(367-369)Cgt>Tgt	p.R123C		NM_030905	NP_112167	O76002	OR2J2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily J, member 2 (OR2J2), mRNA.	123					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1)	25						GTCATATGATCGTTATGTAGC	0.448000														143			66		0	0	0.003610	0	0
MRPL1	65008	broad.mit.edu	37	4	78815335	78815335	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:78815335C>T	uc003hku.2	+	5	799	c.601C>T	c.(601-603)Cca>Tca	p.P201S		NM_020236	NP_064621	Q9BYD6	RM01_HUMAN	Homo sapiens mitochondrial ribosomal protein L1 (MRPL1), nuclear gene encoding mitochondrial protein, mRNA.	201							RNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)	17						CGTAGCTGTTCCAGAAATAAT	0.318000														188			44		0	0	0.003610	0	0
CD226	10666	broad.mit.edu	37	18	67563103	67563103	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr18:67563103G>A	uc010dqo.3	-	2	1008	c.561C>T	c.(559-561)ttC>ttT	p.F187F	CD226_uc002lkm.4_Silent_p.F187F|CD226_uc021uli.1_Silent_p.F32F	NM_006566	NP_006557	Q15762	CD226_HUMAN	Homo sapiens CD226 molecule (CD226), mRNA.	187	Ig-like C2-type 2.				cell adhesion|cell recognition|positive regulation of Fc receptor mediated stimulatory signaling pathway|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target	cell surface|integral to plasma membrane|membrane raft	cell adhesion molecule binding|integrin binding|protein kinase binding|receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	24		Esophageal squamous(42;0.129)				ACTTGGAGGTGAAATTTCTGC	0.537000														59			24		0	0	0.003330	0	0
TTN	7273	broad.mit.edu	37	2	179451886	179451886	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:179451886G>A	uc021vsy.1	-	255	56573	c.56348C>T	c.(56347-56349)cCa>cTa	p.P18783L	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.P12478L|TTN_uc021vta.1_Missense_Mutation_p.P12411L|TTN_uc021vtb.1_Missense_Mutation_p.P12286L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	19710	Fibronectin type-III 36.						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)			GACATCTGTTGGGACGCCAGG	0.433000														163			59		0	0	0.003610	0	0
PLG	5340	broad.mit.edu	37	6	161152120	161152120	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:161152120G>C	uc003qtm.4	+	10	1406	c.1294G>C	c.(1294-1296)Gat>Cat	p.D432H		NM_000301	NP_000292	P00747	PLMN_HUMAN	Homo sapiens plasminogen (PLG), transcript variant 1, mRNA.	432	Kringle 4.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	TCCAGATGCCGATAAAGGCCC	0.512000														57			8		0	0	0.003080	0	0
DCD	117159	broad.mit.edu	37	12	55039462	55039462	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:55039462C>T	uc001sgj.3	-	2	189	c.127G>A	c.(127-129)Gaa>Aaa	p.E43K	DCD_uc009znt.3_Missense_Mutation_p.E43K|DCD_uc009znu.3_Non-coding_Transcript	NM_053283	NP_444513	P81605	DCD_HUMAN	Homo sapiens dermcidin (DCD), mRNA.	43					defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular region	protein binding	p.E43K(2)		large_intestine(2)|lung(2)|ovary(1)|skin(1)	6		Myeloproliferative disorder(1001;0.0255)				CCTGCATTTTCCTTTTGAGCT	0.517000														85			34		0	0	0.005524	0	0
HEPACAM2	253012	broad.mit.edu	37	7	92838107	92838107	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:92838107G>A	uc011khy.2	-	4	890	c.867C>T	c.(865-867)atC>atT	p.I289I	HEPACAM2_uc003uml.3_Silent_p.I254I|HEPACAM2_uc010lff.3_Silent_p.I254I|HEPACAM2_uc003umm.3_Silent_p.I266I	NM_198151	NP_937794	A8MVW5	HECA2_HUMAN	Homo sapiens HEPACAM family member 2 (HEPACAM2), transcript variant 2, mRNA.	266	Ig-like C2-type 2.					integral to membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1)	28						AATCAAATAGGATGGCCTCTC	0.418000														57			12		0	0	0.001855	0	0
FAT1	2195	broad.mit.edu	37	4	187517822	187517822	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:187517822G>A	uc003izf.3	-	24	13060	c.12872C>T	c.(12871-12873)tCt>tTt	p.S4291F	FAT1_uc010isn.3_5'Flank	NM_005245	NP_005236	Q14517	FAT1_HUMAN	Homo sapiens FAT tumor suppressor homolog 1 (Drosophila) (FAT1), mRNA.	4291					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						CCCGTGCACAGACTCGGGGTT	0.557000										HNSCC(5;0.00058)				11			12		0	0	0.000978	0	0
SRCAP	10847	broad.mit.edu	37	16	30712165	30712165	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:30712165C>T	uc002dze.1	+	2	405	c.20C>T	c.(19-21)cCt>cTt	p.P7L	SRCAP_uc021tgn.1_Missense_Mutation_p.P7L	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Homo sapiens Snf2-related CREBBP activator protein (SRCAP), mRNA.	7					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)			AGCCCCTCCCCTGCTCACCCT	0.567000														16			11		0	0	0.000978	0	0
NALCN	259232	broad.mit.edu	37	13	101997716	101997716	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr13:101997716C>T	uc001vox.1	-	6	889	c.700G>A	c.(700-702)Gaa>Aaa	p.E234K	NALCN_uc001voy.3_5'UTR|NALCN_uc001voz.2_Missense_Mutation_p.E234K|NALCN_uc001vpa.2_Missense_Mutation_p.E234K	NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	Homo sapiens sodium leak channel, non-selective (NALCN), mRNA.	234						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)					TAGCCTTCTTCTAGCTCTGGT	0.438000														80			22		0	0	0.005443	0	0
COL6A1	1291	broad.mit.edu	37	21	47407549	47407549	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr21:47407549G>A	uc002zhu.1	+	7	887	c.785G>A	c.(784-786)cGg>cAg	p.R262Q		NM_001848	NP_001839	P12109	CO6A1_HUMAN	Homo sapiens collagen, type VI, alpha 1 (COL6A1), mRNA.	262	Triple-helical region.				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	Palifermin(DB00039)	CCGGGGCTCCGGGGCGACCCC	0.692000														39			23		0	0	0.005443	0	0
GPRC6A	222545	broad.mit.edu	37	6	117121795	117121795	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:117121795G>A	uc003pxj.1	-	3	1522	c.1500C>T	c.(1498-1500)gtC>gtT	p.V500V	GPRC6A_uc003pxk.1_Silent_p.V325V|GPRC6A_uc003pxl.1_Intron	NM_148963	NP_683766	Q5T6X5	GPC6A_HUMAN	Homo sapiens G protein-coupled receptor, family C, group 6, member A (GPRC6A), mRNA.	500					response to amino acid stimulus		G-protein coupled receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		GGATGATGAAGACATCATTCT	0.408000														75			18		0	0	0.001882	0	0
ITGA1	3672	broad.mit.edu	37	5	52223419	52223419	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:52223419C>T	uc003jou.3	+	19	3033	c.2619C>T	c.(2617-2619)atC>atT	p.I873I	ITGA1_uc003jov.3_Non-coding_Transcript|ITGA1_uc003jow.3_Silent_p.I404I	NM_181501	NP_852478	P56199	ITA1_HUMAN	Homo sapiens integrin, alpha 1 (ITGA1), mRNA.	873					axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				CCTAGGCTATCCAAAAAGACA	0.388000														77			37		0	0	0.004878	0	0
PPARA	5465	broad.mit.edu	37	22	46611088	46611088	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr22:46611088C>T	uc003bhb.1	+	2	350	c.227C>T	c.(226-228)tCg>tTg	p.S76L	PPARA_uc003bgw.1_Missense_Mutation_p.S76L|PPARA_uc003bgx.1_Missense_Mutation_p.S76L|PPARA_uc010hab.1_Missense_Mutation_p.S76L|PPARA_uc003bha.3_Missense_Mutation_p.S76L|PPARA_uc010hac.1_5'UTR	NM_005036	NP_005027	Q07869	PPARA_HUMAN	Homo sapiens peroxisome proliferator-activated receptor alpha (PPARA), transcript variant 5, mRNA.	76					fatty acid metabolic process|fatty acid transport|negative regulation of appetite|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fatty acid beta-oxidation|regulation of cellular ketone metabolic process by positive regulation of transcription from an RNA polymerase II promoter|regulation of glycolysis by positive regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	drug binding|ligand-regulated transcription factor activity|lipid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|ubiquitin conjugating enzyme binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	15		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00522)	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Clofibrate(DB00636)|Fenofibrate(DB01039)|Gemfibrozil(DB01241)|Simvastatin(DB00641)	TCACCAGCTTCGAGCCCCTCC	0.547000														23			12		0	0	0.001855	0	0
TPTE	7179	broad.mit.edu	37	21	10920091	10920091	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr21:10920091G>A	uc002yip.1	-	18	1531	c.1163C>T	c.(1162-1164)cCt>cTt	p.P388L	TPTE_uc002yis.1_Non-coding_Transcript|TPTE_uc002yiq.1_Missense_Mutation_p.P370L|TPTE_uc002yir.1_Missense_Mutation_p.P350L|TPTE_uc010gkv.1_Missense_Mutation_p.P250L	NM_199261	NP_954870	P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA.	388	Phosphatase 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)		TACCTGAGAAGGAGTTTTTAC	0.378000														71			10		0	0	0.008291	0	0
LRTM1	57408	broad.mit.edu	37	3	54952851	54952851	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:54952851G>A	uc003dhl.3	-	2	807	c.673C>T	c.(673-675)Cct>Tct	p.P225S	CACNA2D3_uc003dhf.3_Intron|CACNA2D3_uc003dhg.1_Intron|CACNA2D3_uc003dhh.1_Intron	NM_020678	NP_065729	Q9HBL6	LRTM1_HUMAN	Homo sapiens leucine-rich repeats and transmembrane domains 1 (LRTM1), mRNA.	225	LRRCT.					integral to membrane		p.I224I(1)		breast(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(4)	21				KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502)		AGCTCATGAGGGATCCTAAGG	0.547000														12			21		0	0	0.001523	0	0
TCRBV21S1	0	broad.mit.edu	37	7	142224244	142224244	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:142224244C>T	uc003vyi.2	-	0	41	c.24G>A	c.(22-24)tgG>tgA	p.W8*	TRBV5-1_uc011krr.1_Intron|BV13S6J2.1_uc011krx.2_Intron|BV13S6J2.1_uc011ksa.2_Intron					SubName: Full=V_segment translation product; Flags: Fragment;																		AGAGGGCCATCCAGCAGAGAA	0.527000														13			6		0	0	0.001168	0	0
DNAL1	83544	broad.mit.edu	37	14	74125602	74125602	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:74125602C>T	uc001xoq.4	+	2	260	c.95C>T	c.(94-96)gCc>gTc	p.A32V	DNAL1_uc010aru.3_5'UTR|DNAL1_uc010arv.3_Intron	NM_031427	NP_001188295	Q4LDG9	DNAL1_HUMAN	Homo sapiens dynein, axonemal, light chain 1 (DNAL1), transcript variant 1, mRNA.	32										kidney(1)|lung(2)	3				BRCA - Breast invasive adenocarcinoma(234;0.00384)|KIRC - Kidney renal clear cell carcinoma(182;0.095)		AAACTTTATGCCCAGATTCCC	0.413000														239			81		0	0	0.003610	0	0
PMS2	5395	broad.mit.edu	37	7	6026544	6026544	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:6026544G>A	uc003spl.3	-	10	1939	c.1852C>T	c.(1852-1854)Ctg>Ttg	p.L618L	PMS2_uc003spj.3_Silent_p.L512L|PMS2_uc003spk.3_Silent_p.L483L|PMS2_uc011jwl.2_Silent_p.L483L|PMS2_uc010ktg.3_Silent_p.L307L|PMS2_uc010kte.3_Intron|PMS2_uc010ktf.2_Intron	NM_000535	NP_000526	P54278	PMS2_HUMAN	Homo sapiens PMS2 postmeiotic segregation increased 2 (S. cerevisiae) (PMS2), transcript variant 1, mRNA.	618					mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes	MutLalpha complex	ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		GAAAAGTCCAGGGGCACAACT	0.383000			"""Mis, N, F"""			"""colorectal, endometrial, ovarian, medulloblastoma, glioma"""		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome					82			25		0	0	0.002780	0	0
AHNAK	79026	broad.mit.edu	37	11	62290874	62290874	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:62290874G>A	uc001ntl.3	-	4	11315	c.11015C>T	c.(11014-11016)tCc>tTc	p.S3672F	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.	3672					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)				GTCAGGCATGGAGATCTTGGG	0.488000														170			70		0	0	0.003610	0	0
SLC24A3	57419	broad.mit.edu	37	20	19677462	19677462	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr20:19677462C>T	uc002wrl.3	+	13	1710	c.1513C>T	c.(1513-1515)Ctg>Ttg	p.L505L		NM_020689	NP_065740	Q9HC58	NCKX3_HUMAN	Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 3 (SLC24A3), mRNA.	505						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity	p.L505M(2)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TGGTTACACCCTGGGGATTCC	0.572000														49			30		0	0	0.004289	0	0
OASL	8638	broad.mit.edu	37	12	121469317	121469317	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:121469317C>T	uc001tzj.1	-	2	591	c.585G>A	c.(583-585)caG>caA	p.Q195Q	OASL_uc001tzk.1_Silent_p.Q195Q	NM_003733	NP_003724	Q15646	OASL_HUMAN	Homo sapiens 2'-5'-oligoadenylate synthetase-like (OASL), transcript variant 1, mRNA.	195					interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoplasm|nucleolus	ATP binding|DNA binding|double-stranded RNA binding|thyroid hormone receptor binding|transferase activity			NS(1)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CGAAATTTCTCTGCAGCTCGC	0.582000														235			123		0	0	0.003610	0	0
C4orf37	285555	broad.mit.edu	37	4	98902414	98902414	+	Missense_Mutation	SNP	C	T	T	rs150708038		TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:98902414C>T	uc003htt.2	-	5	758	c.668G>A	c.(667-669)cGa>cAa	p.R223Q		NM_174952	NP_777612	Q8N412	CD037_HUMAN	Homo sapiens chromosome 4 open reading frame 37 (C4orf37), mRNA.	223										cervix(1)|kidney(3)|large_intestine(8)|lung(9)|prostate(3)|stomach(1)	25				OV - Ovarian serous cystadenocarcinoma(123;2.27e-08)		GAGAGCAGTTCGAGGTTCATT	0.388000														63			16		0	0	0.004007	0	0
OR2M2	391194	broad.mit.edu	37	1	248343836	248343836	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:248343836C>T	uc010pzf.2	+	0	549	c.549C>T	c.(547-549)tcC>tcT	p.S183S		NM_001004688	NP_001004688	Q96R28	OR2M2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 2 (OR2M2), mRNA.	183					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			AATTCCCTTCCCTACTAATCC	0.413000														133			59		0	0	0.003610	0	0
KLHDC8B	200942	broad.mit.edu	37	3	49212568	49212568	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:49212568G>A	uc003cwh.3	+	4	1075	c.840G>A	c.(838-840)ggG>ggA	p.G280G	KLHDC8B_uc003cwi.1_3'UTR	NM_173546	NP_775817	Q8IXV7	KLD8B_HUMAN	Homo sapiens kelch domain containing 8B (KLHDC8B), mRNA.	280						cytoplasm				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)|stomach(1)	7				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GGTCCCTTGGGGGCCACATTG	0.597000														24			9		0	0	0.006214	0	0
PTPRD	5789	broad.mit.edu	37	9	8518298	8518298	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:8518298C>T	uc003zkk.3	-	20	1836	c.1093G>A	c.(1093-1095)Gaa>Aaa	p.E365K	PTPRD_uc003zkp.3_Missense_Mutation_p.E365K|PTPRD_uc003zkq.3_Missense_Mutation_p.E365K|PTPRD_uc003zkr.3_Missense_Mutation_p.E359K|PTPRD_uc003zks.3_Missense_Mutation_p.E355K|PTPRD_uc022bdj.1_Missense_Mutation_p.E362K	NM_002839	NP_002830	P23468	PTPRD_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA.	365	Fibronectin type-III 1.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.E364_E365>D*(5)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TTGTAAAGTTCCTCAGAGTTT	0.458000										TSP Lung(15;0.13)				79			43		0	0	0.008740	0	0
ME2	4200	broad.mit.edu	37	18	48447507	48447507	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr18:48447507G>A	uc002ley.3	+	9	1265	c.1006G>A	c.(1006-1008)Gag>Aag	p.E336K	ME2_uc010dpd.3_Missense_Mutation_p.E336K	NM_002396	NP_002387	P23368	MAOM_HUMAN	Homo sapiens malic enzyme 2, NAD(+)-dependent, mitochondrial (ME2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	336					malate metabolic process	mitochondrial matrix	NAD binding|electron carrier activity|malate dehydrogenase (decarboxylating) activity|malate dehydrogenase (oxaloacetate-decarboxylating) activity|metal ion binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(3)	23		Colorectal(6;0.0273)|all_epithelial(6;0.118)		Colorectal(21;0.0313)|READ - Rectum adenocarcinoma(32;0.105)|STAD - Stomach adenocarcinoma(97;0.184)	NADH(DB00157)	GTCAGAACAAGAGGCACAAAA	0.303000														39			22		0	0	0.006320	0	0
TGFBRAP1	9392	broad.mit.edu	37	2	105890114	105890114	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:105890114C>T	uc002tcq.3	-	8	1783	c.1699G>A	c.(1699-1701)Gat>Aat	p.D567N	TGFBRAP1_uc010fjc.3_Missense_Mutation_p.D336N|TGFBRAP1_uc002tcr.4_Missense_Mutation_p.D567N	NM_004257	NP_004248	Q8WUH2	TGFA1_HUMAN	Homo sapiens transforming growth factor, beta receptor associated protein 1 (TGFBRAP1), transcript variant 1, mRNA.	567					regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|membrane	SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding			central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						TGCTGTTCATCCAAAGGTCTC	0.408000														43			12		0	0	0.001855	0	0
FLNC	2318	broad.mit.edu	37	7	128484727	128484728	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:128484727_128484728CC>TT	uc003vnz.4	+	20	3417_3418	c.3208_3209CC>TT	c.(3208-3210)ccg>TTg	p.P1070L	FLNC_uc003voa.4_Missense_Mutation_p.P1070L	NM_001458	NP_001449	Q14315	FLNC_HUMAN	Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA.	1070					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						TGCTTATGGCCCGGGTCTCAAG	0.653000														43			12		0	0	0.004672	0	0
NPFFR1	64106	broad.mit.edu	37	10	72025858	72025858	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:72025858G>A	uc021psj.1	-	1	315	c.297C>T	c.(295-297)acC>acT	p.T99T		NM_022146	NP_071429	Q9GZQ6	NPFF1_HUMAN	Homo sapiens neuropeptide FF receptor 1 (NPFFR1), mRNA.	99						integral to membrane|plasma membrane	neuropeptide receptor activity			endometrium(2)|lung(1)	3						CCACAAGGGTGGTGGGCATGC	0.542000														48			15		0	0	0.004990	0	0
NUP98	4928	broad.mit.edu	37	11	3752715	3752715	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:3752715T>C	uc001lyh.3	-	13	2057	c.1636A>G	c.(1636-1638)Aag>Gag	p.K546E	NUP98_uc001lyi.3_Missense_Mutation_p.K546E|NUP98_uc001lyj.2_Missense_Mutation_p.K546E|NUP98_uc001lyk.2_Missense_Mutation_p.K563E	NM_016320	NP_057404	P52948	NUP98_HUMAN	Homo sapiens nucleoporin 98kDa (NUP98), transcript variant 1, mRNA.	563					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)		TGTAAAGCCTTTGGCCGGACT	0.488000			T	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""	AML									126			59		0	0	0.003610	0	0
DDX52	11056	broad.mit.edu	37	17	35981555	35981555	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:35981555G>A	uc002hoi.2	-	9	1282	c.1238C>T	c.(1237-1239)cCa>cTa	p.P413L	DDX52_uc002hoh.2_Missense_Mutation_p.P305L	NM_007010	NP_008941	Q9Y2R4	DDX52_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 52 (DDX52), mRNA.	413	Helicase C-terminal.					nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			biliary_tract(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(5)|ovary(1)|skin(3)	17		Breast(25;0.00637)|Ovarian(249;0.15)				AAGAACAGGTGGATTGAAACC	0.323000														19			12		0	0	0.003163	0	0
GTDC1	79712	broad.mit.edu	37	2	144764854	144764854	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:144764854G>A	uc002tvp.3	-	6	1049	c.770C>T	c.(769-771)tCt>tTt	p.S257F	GTDC1_uc002tvo.3_Missense_Mutation_p.S257F|GTDC1_uc021vqf.1_Missense_Mutation_p.S257F|GTDC1_uc010fnn.3_Missense_Mutation_p.S257F|GTDC1_uc002tvs.3_Missense_Mutation_p.S225F|GTDC1_uc021vqg.1_Intron|GTDC1_uc002tvr.3_Missense_Mutation_p.S257F|GTDC1_uc010fno.3_Missense_Mutation_p.S128F|GTDC1_uc002tvt.2_Missense_Mutation_p.S257F	NM_001006636	NP_001158101	Q4AE62	GTDC1_HUMAN	Homo sapiens glycosyltransferase-like domain containing 1 (GTDC1), transcript variant 1, mRNA.	257					biosynthetic process		transferase activity, transferring glycosyl groups			central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(17)|ovary(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.0914)		ACCATGATGAGAGCTTGAATT	0.408000														36			25		0	0	0.003330	0	0
SPEF2	79925	broad.mit.edu	37	5	35644627	35644627	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:35644627G>A	uc003jjo.3	+	4	696	c.585_splice	c.e4+1	p.K195_splice	SPEF2_uc003jjn.1_Splice_Site_p.K195_splice|SPEF2_uc003jjq.4_Splice_Site_p.K195_splice	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	Homo sapiens sperm flagellar 2 (SPEF2), transcript variant 1, mRNA.	195					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)			ATATTGAAAAGGTTCTATAGA	0.313000														18			11		0	0	0.008291	0	0
ATP6V0A1	535	broad.mit.edu	37	17	40620096	40620096	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:40620096C>T	uc002hzs.3	+	3	432	c.265C>T	c.(265-267)Ccc>Tcc	p.P89S	ATP6V0A1_uc002hzr.3_Missense_Mutation_p.P89S|ATP6V0A1_uc002hzq.3_Missense_Mutation_p.P89S|ATP6V0A1_uc010wgj.2_Missense_Mutation_p.P89S|ATP6V0A1_uc010wgk.2_Missense_Mutation_p.P89S|ATP6V0A1_uc010cyg.3_Intron|ATP6V0A1_uc010wgl.2_5'Flank|ATP6V0A1_uc002hzp.1_Missense_Mutation_p.P89S	NM_001130020	NP_001123492	Q93050	VPP1_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal V0 subunit a1 (ATP6V0A1), transcript variant 1, mRNA.	89					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	Golgi apparatus|cytoplasmic vesicle membrane|endosome membrane|integral to membrane|melanosome|nucleus|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|urinary_tract(3)	26		all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254)		BRCA - Breast invasive adenocarcinoma(366;0.137)		CCCAGAGGTTCCCTTCCCCCG	0.393000														19			9		0	0	0.000978	0	0
SLC24A4	123041	broad.mit.edu	37	14	92922848	92922848	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:92922848C>T	uc001yak.3	+	11	1174	c.1151C>T	c.(1150-1152)cCc>cTc	p.P384L	SLC24A4_uc001yai.3_Missense_Mutation_p.P320L|SLC24A4_uc010twm.2_Missense_Mutation_p.P365L|SLC24A4_uc010auj.3_Missense_Mutation_p.P256L|SLC24A4_uc010twn.2_Missense_Mutation_p.P140L|SLC24A4_uc001yan.3_Missense_Mutation_p.P78L	NM_153646	NP_705932	Q8NFF2	NCKX4_HUMAN	Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 4 (SLC24A4), transcript variant 1, mRNA.	384						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(20)|ovary(2)|skin(1)	36		all_cancers(154;0.0347)|all_epithelial(191;0.163)		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)		GTGGAAAACCCCGAAGACCCT	0.602000											OREG0022876	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		32			16		0	0	0.004007	0	0
PHF14	9678	broad.mit.edu	37	7	11076227	11076227	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:11076227G>A	uc003sry.2	+	8	2237	c.1785G>A	c.(1783-1785)gtG>gtA	p.V595V	PHF14_uc011jxi.2_Silent_p.V310V|PHF14_uc011jxj.2_Silent_p.V310V	NM_014660	NP_055475	O94880	PHF14_HUMAN	Homo sapiens PHD finger protein 14 (PHF14), transcript variant 2, mRNA.	595							zinc ion binding			NS(2)|breast(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	35				UCEC - Uterine corpus endometrioid carcinoma (126;0.205)		TCTTTCCAGTGGACAATTCAG	0.418000														64			14		0	0	0.004007	0	0
AMPD2	271	broad.mit.edu	37	1	110170727	110170727	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:110170727C>T	uc009wfh.1	+	10	1807	c.1265C>T	c.(1264-1266)tCg>tTg	p.S422L	AMPD2_uc009wfg.1_Non-coding_Transcript|AMPD2_uc001dyb.1_Missense_Mutation_p.S341L|AMPD2_uc001dyc.1_Missense_Mutation_p.S422L|AMPD2_uc010ovr.1_Missense_Mutation_p.S347L|AMPD2_uc010ovs.1_Missense_Mutation_p.S304L|AMPD2_uc001dyd.1_Missense_Mutation_p.S303L|AMPD2_uc001dye.1_5'Flank	NM_004037	NP_004028	Q01433	AMPD2_HUMAN	Homo sapiens adenosine monophosphate deaminase 2 (AMPD2), transcript variant 1, mRNA.	422					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding	p.S422W(1)		breast(1)|large_intestine(3)|ovary(2)|skin(1)	7		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228)		ATCCATGCCTCGTCCTGCATG	0.607000														18			12		0	0	0.000978	0	0
KRTAP10-4	386672	broad.mit.edu	37	21	45994564	45994564	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr21:45994564C>T	uc002zfk.1	+	0	959	c.929C>T	c.(928-930)tCc>tTc	p.S310F	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.	310	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						TGCTGCACCTCCTCCCAAAGC	0.617000														41			32		0	0	0.002096	0	0
C8orf31	286122	broad.mit.edu	37	8	144130644	144130644	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:144130644G>A	uc003yxp.1	+	4	726	c.374G>A	c.(373-375)gGg>gAg	p.G125E	C8orf31_uc003yxq.1_Non-coding_Transcript|C8orf31_uc003yxr.1_Non-coding_Transcript	NM_173687	NP_775958	Q8N9H6	CH031_HUMAN	Homo sapiens chromosome 8 open reading frame 31 (C8orf31), mRNA.	125										breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)	10	all_cancers(97;1.89e-10)|all_epithelial(106;8.73e-09)|Lung NSC(106;0.000161)|all_lung(105;0.000447)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					cggcaccacgggaaccacctt	0.502000														45			16		0	0	0.004990	0	0
ACOT7	11332	broad.mit.edu	37	1	6453328	6453328	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:6453328G>A	uc001amt.3	-	0	499	c.132C>T	c.(130-132)atC>atT	p.I44I	ACOT7_uc001amu.3_Non-coding_Transcript	NM_007274	NP_009205	O00154	BACH_HUMAN	Homo sapiens acyl-CoA thioesterase 7 (ACOT7), transcript variant hBACHa, mRNA.	54						mitochondrion|nucleus	carboxylesterase activity|fatty-acyl-CoA binding|palmitoyl-CoA hydrolase activity			kidney(1)|large_intestine(3)|lung(10)|pancreas(1)|prostate(1)	16	Ovarian(185;0.0634)|all_lung(157;0.175)	all_cancers(23;1.42e-38)|all_epithelial(116;3.96e-23)|all_lung(118;3.69e-08)|Lung NSC(185;8.52e-07)|all_hematologic(16;6.92e-06)|Colorectal(325;4.53e-05)|Acute lymphoblastic leukemia(12;5e-05)|all_neural(13;0.000164)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0393)|Medulloblastoma(700;0.211)		Epithelial(90;9.16e-37)|GBM - Glioblastoma multiforme(13;5.89e-29)|OV - Ovarian serous cystadenocarcinoma(86;7.63e-19)|Colorectal(212;1.27e-07)|COAD - Colon adenocarcinoma(227;2.06e-05)|Kidney(185;7.74e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00129)|BRCA - Breast invasive adenocarcinoma(365;0.00132)|STAD - Stomach adenocarcinoma(132;0.00195)|READ - Rectum adenocarcinoma(331;0.0481)		GGCAGATCTGGATGGCGGACG	0.761000														11			4		0	0	0.000602	0	0
MCTP2	55784	broad.mit.edu	37	15	94910937	94910937	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:94910937C>T	uc002btj.3	+	9	1470	c.1405C>T	c.(1405-1407)Ccc>Tcc	p.P469S	MCTP2_uc002bti.2_Missense_Mutation_p.P469S|MCTP2_uc010boj.3_Missense_Mutation_p.P198S|MCTP2_uc010bok.3_Missense_Mutation_p.P469S|MCTP2_uc002btk.4_Missense_Mutation_p.P57S|MCTP2_uc002btl.3_Missense_Mutation_p.P57S	NM_018349	NP_060819	Q6DN12	MCTP2_HUMAN	Homo sapiens multiple C2 domains, transmembrane 2 (MCTP2), transcript variant 1, mRNA.	469					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)			CACACTTACACCCTGTGCGGG	0.532000														52			11		0	0	0.000978	0	0
HECTD1	25831	broad.mit.edu	37	14	31570518	31570518	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:31570518C>T	uc001wrc.1	-	41	8052	c.7563G>A	c.(7561-7563)ctG>ctA	p.L2521L	HECTD1_uc001wra.1_Silent_p.L647L|HECTD1_uc001wrb.1_Silent_p.L647L	NM_015382	NP_056197	Q9ULT8	HECD1_HUMAN	Homo sapiens HECT domain containing 1 (HECTD1), mRNA.	2521	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		TCACAAACCTCAGGAAACCAG	0.408000														43			19		0	0	0.003330	0	0
abParts	0	broad.mit.edu	37	14	107099305	107099305	+	RNA	SNP	T	C	C	rs117541988	by1000genomes	TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:107099305T>C	uc021ser.1	-	105		c.4783A>G								Parts of antibodies, mostly variable regions.																		AAACCCTTTCTTGGAGCCTGG	0.542000														31			3		0	0	0.004672	0	0
TNFRSF11A	8792	broad.mit.edu	37	18	60036649	60036650	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr18:60036649_60036650GG>AA	uc002lin.3	+	8	1537_1538	c.1499_1500GG>AA	c.(1498-1500)agg>aAA	p.R500K	TNFRSF11A_uc010dpv.3_Intron	NM_003839	NP_003830	Q9Y6Q6	TNR11_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 11a, NFKB activator (TNFRSF11A), mRNA.	500					adaptive immune response|cell-cell signaling|circadian temperature homeostasis|monocyte chemotaxis|osteoclast differentiation|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of cell proliferation|positive regulation of fever generation by positive regulation of prostaglandin secretion|response to interleukin-1|response to lipopolysaccharide	external side of plasma membrane|integral to membrane	metal ion binding|tumor necrosis factor receptor activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(13)|skin(3)|upper_aerodigestive_tract(1)	29		Colorectal(73;0.188)				GCTGATGGGAGGCTCCCAAGCT	0.644000														51			20		0	0	0.004672	0	0
GRIA2	2891	broad.mit.edu	37	4	158224878	158224878	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:158224878C>T	uc003ipm.4	+	2	863	c.404C>T	c.(403-405)gCt>gTt	p.A135V	GRIA2_uc011cit.2_Missense_Mutation_p.A88V|GRIA2_uc021xtr.1_Missense_Mutation_p.A135V|GRIA2_uc003ipl.4_Missense_Mutation_p.A135V|GRIA2_uc003ipk.4_Missense_Mutation_p.A88V|GRIA2_uc010iqh.1_Non-coding_Transcript	NM_001083619	NP_001077088	P42262	GRIA2_HUMAN	Homo sapiens glutamate receptor, ionotropic, AMPA 2 (GRIA2), transcript variant 2, mRNA.	135					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	p.G134R(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	CTCAAAGGAGCTCTCCTTAGC	0.458000														110			21		0	0	0.003330	0	0
FRY	10129	broad.mit.edu	37	13	32836501	32836501	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr13:32836501C>T	uc001utx.3	+	52	8164	c.7668C>T	c.(7666-7668)acC>acT	p.T2556T	FRY_uc010tdw.2_Non-coding_Transcript|FRY_uc001utz.3_Silent_p.T81T|FRY_uc010tdx.2_5'Flank	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	Homo sapiens furry homolog (Drosophila) (FRY), mRNA.	2556					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		AGCTGCTCACCACAGCCTGTG	0.438000														25			15		0	0	0.003163	0	0
DOCK3	1795	broad.mit.edu	37	3	51101926	51101926	+	Silent	SNP	A	G	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:51101926A>G	uc011bds.2	+	5	386	c.363A>G	c.(361-363)gaA>gaG	p.E121E		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	Homo sapiens dedicator of cytokinesis 3 (DOCK3), mRNA.	121						cytoplasm	GTP binding|GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity	p.E121E(1)		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)		TGATGAATGAACTTATTGACC	0.473000														49			87		0	0	0.003610	0	0
COL16A1	1307	broad.mit.edu	37	1	32134409	32134409	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:32134409C>T	uc001btk.1	-	49	3608	c.3243G>A	c.(3241-3243)ggG>ggA	p.G1081G	COL16A1_uc001btj.1_Silent_p.G879G	NM_001856	NP_001847	Q07092	COGA1_HUMAN	Homo sapiens collagen, type XVI, alpha 1 (COL16A1), mRNA.	1081	Triple-helical region 2 (COL2) with 2 imperfections.				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		TTACCGGCTCCCCCTTGTCTC	0.612000														33			17		0	0	0.006122	0	0
EPHA7	2045	broad.mit.edu	37	6	94120643	94120643	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:94120643C>T	uc003poe.3	-	2	649	c.408G>A	c.(406-408)agG>agA	p.R136R	EPHA7_uc003pof.3_Silent_p.R136R|EPHA7_uc011eac.2_Silent_p.R136R|EPHA7_uc003pog.4_Silent_p.R136R	NM_004440	NP_004431	Q15375	EPHA7_HUMAN	Homo sapiens EPH receptor A7 (EPHA7), mRNA.	136						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)		CTCTTATATTCCTGCCAGTGT	0.383000														62			32		0	0	0.002096	0	0
RGR	5995	broad.mit.edu	37	10	86012759	86012759	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:86012759G>A	uc001kdd.1	+	3	555	c.517G>A	c.(517-519)Ggg>Agg	p.G173R	RGR_uc001kdc.1_Missense_Mutation_p.G169R|RGR_uc001kde.1_Missense_Mutation_p.G169R	NM_002921	NP_002912	P47804	RGR_HUMAN	Homo sapiens retinal G protein coupled receptor (RGR), transcript variant 1, mRNA.	169					phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity|protein binding	p.G173G(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	17						CTACTCCAAGGGGGACAGGTG	0.572000														13			8		0	0	0.008291	0	0
PBX1	5087	broad.mit.edu	37	1	164761949	164761949	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:164761949C>T	uc001gct.3	+	2	947	c.484C>T	c.(484-486)Cat>Tat	p.H162Y	PBX1_uc010pku.2_Missense_Mutation_p.H162Y|PBX1_uc001gcs.3_Missense_Mutation_p.H162Y|PBX1_uc010pkv.2_Missense_Mutation_p.H79Y|PBX1_uc010pkw.1_Missense_Mutation_p.H52Y	NM_002585	NP_002576	P40424	PBX1_HUMAN	Homo sapiens pre-B-cell leukemia homeobox 1 (PBX1), transcript variant 1, mRNA.	162					negative regulation of sequence-specific DNA binding transcription factor activity|sex differentiation|steroid biosynthetic process	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription factor binding		EWSR1/PBX1(3)	large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	4						ACAAATCTACCATACGGAGCT	0.582000			T	"""TCF3, EWSR1"""	"""pre B-ALL, myoepithelioma"""									30			10		0	0	0.001368	0	0
NMNAT3	349565	broad.mit.edu	37	3	139297761	139297761	+	Silent	SNP	A	C	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:139297761A>C	uc003etj.3	-	1	286	c.246T>G	c.(244-246)ccT>ccG	p.P82P	NMNAT3_uc010hul.3_Intron|NMNAT3_uc003etk.3_Silent_p.P45P|NMNAT3_uc003etl.3_Non-coding_Transcript	NM_178177	NP_835471	Q96T66	NMNA3_HUMAN	Homo sapiens nicotinamide nucleotide adenylyltransferase 3 (NMNAT3), transcript variant 1, mRNA.	82					water-soluble vitamin metabolic process	cytosol|mitochondrion	ATP binding|nicotinamide-nucleotide adenylyltransferase activity|nicotinate-nucleotide adenylyltransferase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)	9						CACTCTCCCAAGGGTCCACCC	0.592000														27			11		0	0	0.001368	0	0
TRPV3	162514	broad.mit.edu	37	17	3458031	3458031	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:3458031C>T	uc002fvr.2	-	1	436	c.114G>A	c.(112-114)aaG>aaA	p.K38K	TRPV3_uc010vrk.1_Non-coding_Transcript|TRPV3_uc002fvt.1_Silent_p.K38K|TRPV3_uc010vrj.1_5'UTR|TRPV3_uc002fvu.3_Silent_p.K38K	NM_145068	NP_659505	Q8NET8	TRPV3_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 3 (TRPV3), mRNA.	38						integral to membrane	calcium channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	35					Menthol(DB00825)	CCCACCTCTTCTTTGTGGGGG	0.657000														30			17		0	0	0.008871	0	0
TGM1	7051	broad.mit.edu	37	14	24729894	24729894	+	Silent	SNP	G	A	A	rs139811103	byFrequency	TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:24729894G>A	uc001wod.3	-	3	643	c.519C>T	c.(517-519)ccC>ccT	p.P173P	TGM1_uc010tog.2_Intron|TGM1_uc021rrn.1_5'Flank	NM_000359	NP_000350	P22735	TGM1_HUMAN	Homo sapiens transglutaminase 1 (K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase) (TGM1), mRNA.	173					cell envelope organization|keratinization|peptide cross-linking	cornified envelope|intrinsic to membrane	acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)	24				GBM - Glioblastoma multiforme(265;0.0186)	L-Glutamine(DB00130)	TGCCCACCTCGGGGTTGTTTC	0.612000														22			17		0	0	0.006122	0	0
TERT	7015	broad.mit.edu	37	5	1264578	1264578	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:1264578G>A	uc003jcb.1	-	10	2842	c.2784C>T	c.(2782-2784)ttC>ttT	p.F928F	TERT_uc003jbz.1_Silent_p.F124F|TERT_uc003jcc.1_Intron|TERT_uc003jca.1_Silent_p.F916F|TERT_uc003jcd.1_Intron|TERT_uc003jce.1_Intron|TERT_uc021xvz.1_Intron|TERT_uc021xwa.1_Intron|TERT_uc021xwb.1_Silent_p.F80F	NM_198253	NP_937983	O14746	TERT_HUMAN	Homo sapiens telomerase reverse transcriptase (TERT), transcript variant 1, mRNA.	928	Required for oligomerization.|Reverse transcriptase.				DNA strand elongation|anti-apoptosis|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase	PML body|cytoplasm|nucleolus|telomerase holoenzyme complex	protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			CGCACCAGGGGAATAGGCCGT	0.647000									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis					19			12		0	0	0.001855	0	0
DAB1	1600	broad.mit.edu	37	1	57611083	57611083	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:57611083G>A	uc009vzx.1	-	2	407	c.87C>T	c.(85-87)gcC>gcT	p.A29A	DAB1_uc001cyt.1_Silent_p.A29A|DAB1_uc001cyq.1_Silent_p.A29A|DAB1_uc001cyr.1_Silent_p.A29A|DAB1_uc009vzw.1_Silent_p.A29A|DAB1_uc001cys.1_Silent_p.A29A	NM_021080	NP_066566	O75553	DAB1_HUMAN	Homo sapiens disabled homolog 1 (Drosophila) (DAB1), mRNA.	29					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						TTATCAAAGTGGCTTCACTGC	0.453000														39			18		0	0	0.001882	0	0
GNL3	26354	broad.mit.edu	37	3	52721594	52721594	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:52721594C>T	uc003dfd.3	+	3	460	c.287C>T	c.(286-288)cCt>cTt	p.P96L	PBRM1_uc003dey.2_5'Flank|GNL3_uc011beh.1_Non-coding_Transcript|GNL3_uc003dfe.3_Missense_Mutation_p.P84L|GNL3_uc003dff.3_Missense_Mutation_p.P84L|SNORD19_uc003dfg.1_5'Flank	NM_014366	NP_996562	Q9BVP2	GNL3_HUMAN	Homo sapiens guanine nucleotide binding protein-like 3 (nucleolar) (GNL3), transcript variant 1, mRNA.	96					regulation of cell proliferation	nucleolus	GTP binding|protein binding			breast(4)|endometrium(3)|large_intestine(3)|lung(2)	12				BRCA - Breast invasive adenocarcinoma(193;6.75e-05)|Kidney(197;0.000611)|KIRC - Kidney renal clear cell carcinoma(197;0.000773)|OV - Ovarian serous cystadenocarcinoma(275;0.048)		GAAACTAATCCTGATATTAAG	0.373000														35			20		0	0	0.007413	0	0
ME1	4199	broad.mit.edu	37	6	84108094	84108094	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:84108094C>T	uc003pjy.3	-	2	619	c.354G>A	c.(352-354)cgG>cgA	p.R118R	ME1_uc011dzb.2_Silent_p.R43R|ME1_uc011dzc.2_Intron	NM_002395	NP_002386	P48163	MAOX_HUMAN	Homo sapiens malic enzyme 1, NADP(+)-dependent, cytosolic (ME1), mRNA.	118					NADP biosynthetic process|carbohydrate metabolic process|cellular lipid metabolic process|malate metabolic process|response to carbohydrate stimulus|response to hormone stimulus	cytosol	ADP binding|NAD binding|NADP binding|electron carrier activity|malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|manganese ion binding			NS(2)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218)		BRCA - Breast invasive adenocarcinoma(397;0.0641)	NADH(DB00157)	ACCTTGGCTTCCGAAACACCA	0.294000														26			9		0	0	0.000978	0	0
PHF2P1	266695	broad.mit.edu	37	13	19636811	19636811	+	RNA	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr13:19636811C>T	uc001umb.1	-	5		c.771G>A								Homo sapiens PHD finger protein 2 pseudogene 1 (PHF2P1), non-coding RNA.																		CTCTTCCACTCCCAACACAGC	0.532000														9			4		0	0	0.000248	0	0
HMCN1	83872	broad.mit.edu	37	1	186086672	186086672	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:186086672G>A	uc001grq.1	+	76	11994	c.11765G>A	c.(11764-11766)gGa>gAa	p.G3922E	MIR548F1_uc021pgf.1_Intron	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	3922	Ig-like C2-type 38.				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						ACTGCTTCGGGAGTTCCATTT	0.453000														44			26		0	0	0.003330	0	0
KIF12	113220	broad.mit.edu	37	9	116856469	116856469	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:116856469C>T	uc004bif.3	-	9	1129	c.891G>A	c.(889-891)gaG>gaA	p.E297E	KIF12_uc004big.3_Non-coding_Transcript	NM_138424	NP_612433	Q96FN5	KIF12_HUMAN	Homo sapiens kinesin family member 12 (KIF12), mRNA.	430					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	17						ACCTGAGCCTCTCATTCTCTA	0.642000														46			12		0	0	0.000978	0	0
CNTN2	6900	broad.mit.edu	37	1	205035016	205035016	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:205035016G>A	uc001hbr.3	+	13	2064	c.1795G>A	c.(1795-1797)Gag>Aag	p.E599K	CNTN2_uc001hbq.1_Missense_Mutation_p.E490K|CNTN2_uc001hbs.3_Missense_Mutation_p.E387K	NM_005076	NP_005067	Q02246	CNTN2_HUMAN	Homo sapiens contactin 2 (axonal) (CNTN2), mRNA.	599	Ig-like C2-type 6.				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			CGCGTCCAAGGAGGCCACAGT	0.617000														25			11		0	0	0.001855	0	0
WDR55	54853	broad.mit.edu	37	5	140048690	140048690	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:140048690C>T	uc003lgr.4	+	5	801	c.687C>T	c.(685-687)tcC>tcT	p.S229S	WDR55_uc011czl.1_Silent_p.S68S	NM_017706	NP_060176	Q9H6Y2	WDR55_HUMAN	Homo sapiens WD repeat domain 55 (WDR55), mRNA.	229					rRNA processing	cytoplasm|nucleolus				NS(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTGTGGCTCCAGTGAAGGTA	0.537000														19			16		0	0	0.004990	0	0
TFRC	7037	broad.mit.edu	37	3	195779012	195779012	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:195779012G>A	uc003fvz.4	-	18	2367	c.2084C>T	c.(2083-2085)tCt>tTt	p.S695F	TFRC_uc003fwa.4_Missense_Mutation_p.S695F|TFRC_uc010hzy.3_Missense_Mutation_p.S614F|TFRC_uc011btr.2_Missense_Mutation_p.S413F	NM_003234	NP_003225	P02786	TFR1_HUMAN	Homo sapiens transferrin receptor (p90, CD71) (TFRC), transcript variant 1, mRNA.	695	Ligand-binding.				cellular iron ion homeostasis|endocytosis|interspecies interaction between organisms|proteolysis|transferrin transport|transmembrane transport	coated pit|endosome|integral to plasma membrane|melanosome	peptidase activity|transferrin receptor activity			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_cancers(143;1.94e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.36e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.17e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00233)		TCGGAAAGGAGACTCTTTTGG	0.448000			T	BCL6	NHL									22			14		0	0	0.002450	0	0
HK3	3101	broad.mit.edu	37	5	176311090	176311090	+	Missense_Mutation	SNP	C	T	T	rs150421022	byFrequency	TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:176311090C>T	uc003mfa.3	-	13	1995	c.1903G>A	c.(1903-1905)Gag>Aag	p.E635K	HK3_uc003mez.3_Missense_Mutation_p.E191K	NM_002115	NP_002106	P52790	HXK3_HUMAN	Homo sapiens hexokinase 3 (white cell) (HK3), nuclear gene encoding mitochondrial protein, mRNA.	635	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)			TCTTGGCCCTCGCAGTCTGAT	0.607000														56			37		0	0	0.008740	0	0
EMR1	2015	broad.mit.edu	37	19	6903930	6903930	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:6903930G>A	uc002mfw.3	+	6	809	c.771G>A	c.(769-771)ttG>ttA	p.L257L	EMR1_uc010dvc.3_Silent_p.L257L|EMR1_uc010dvb.3_Silent_p.L205L|EMR1_uc010xji.2_Silent_p.L116L|EMR1_uc010xjj.2_Intron	NM_001974	NP_001965	Q14246	EMR1_HUMAN	Homo sapiens egf-like module containing, mucin-like, hormone receptor-like 1 (EMR1), transcript variant 1, mRNA.	257	EGF-like 5; calcium-binding (Potential).				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					ATGGACAGTTGAATTTCACAG	0.453000														33			24		0	0	0.003330	0	0
DZANK1	55184	broad.mit.edu	37	20	18370464	18370464	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr20:18370464G>A	uc010zsa.2	-	18	2165	c.1956C>T	c.(1954-1956)gaC>gaT	p.D652D	DZANK1_uc010zrz.2_Silent_p.D171D|DZANK1_uc002wqp.4_Silent_p.D343D|DZANK1_uc002wqr.4_Non-coding_Transcript|DZANK1_uc002wqs.4_Silent_p.D519D|DZANK1_uc002wqq.4_Silent_p.D633D	NM_001099407	NP_001092877	Q9NVP4	CT012_HUMAN	Homo sapiens double zinc ribbon and ankyrin repeat domains 1 (DZANK1), mRNA.	460						intracellular	zinc ion binding			NS(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(10)	19						AGCAGTTGGGGTCTGCTCCCT	0.488000														97			39		0	0	0.002222	0	0
TREML2	79865	broad.mit.edu	37	6	41165886	41165886	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:41165886G>A	uc010jxm.1	-	1	516	c.337C>T	c.(337-339)Ctg>Ttg	p.L113L		NM_024807	NP_079083	Q5T2D2	TRML2_HUMAN	Homo sapiens triggering receptor expressed on myeloid cells-like 2 (TREML2), mRNA.	113	Ig-like V-type.				T cell activation	cell surface|integral to membrane|plasma membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18	Ovarian(28;0.0418)|Colorectal(47;0.196)					AAGGGGTACAGGATCCCAGAG	0.627000														20			4		0	0	0.000602	0	0
PLCB1	23236	broad.mit.edu	37	20	8628581	8628581	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr20:8628581G>C	uc002wnb.3	+	5	502	c.499G>C	c.(499-501)Ggg>Cgg	p.G167R	PLCB1_uc010zrb.1_Missense_Mutation_p.G66R|PLCB1_uc010gbv.1_Missense_Mutation_p.G167R|PLCB1_uc002wmz.1_Missense_Mutation_p.G167R|PLCB1_uc002wna.3_Missense_Mutation_p.G167R|PLCB1_uc002wnc.1_Missense_Mutation_p.G66R	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN	Homo sapiens phospholipase C, beta 1 (phosphoinositide-specific) (PLCB1), transcript variant 1, mRNA.	167					CD24 biosynthetic process|G1 phase|G2/M transition of mitotic cell cycle|activation of meiosis involved in egg activation|cerebral cortex development|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of JNK cascade|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of G-protein coupled receptor protein signaling pathway|regulation of fertilization|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	GTPase activator activity|calcium ion binding|calmodulin binding|enzyme binding|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						CACTCCAGAAGGGCGTATTCC	0.338000														72			58		0	0	0.003610	0	0
DNAH10	196385	broad.mit.edu	37	12	124330207	124330207	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:124330207G>A	uc001uft.4	+	29	5092	c.5067G>A	c.(5065-5067)tgG>tgA	p.W1689*		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	1689	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)		AGGTGTGGTGGACCTGGGAGG	0.557000														17			11		0	0	0.001368	0	0
MUC2	4583	broad.mit.edu	37	11	1080907	1080907	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:1080907G>A	uc001lsx.1	+	9	1318	c.1291G>A	c.(1291-1293)Gag>Aag	p.E431K		NM_002457	NP_002448	Q02817	MUC2_HUMAN	Homo sapiens mucin 2, oligomeric mucus/gel-forming (MUC2), mRNA.	431	VWFD 2.					inner mucus layer|outer mucus layer	protein binding	p.G430G(1)		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)	TCTCCTGGGCGAGCTGGCCCC	0.632000														47			18		0	0	0.002780	0	0
FBXO24	26261	broad.mit.edu	37	7	100190506	100190506	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:100190506C>T	uc011kjz.1	+	4	841	c.773C>T	c.(772-774)gCc>gTc	p.A258V	FBXO24_uc010lha.1_Non-coding_Transcript|FBXO24_uc003uvl.1_Missense_Mutation_p.A206V|FBXO24_uc003uvm.1_Missense_Mutation_p.A220V|FBXO24_uc003uvn.1_Intron|LOC100129845_uc011kjy.2_Non-coding_Transcript|FBXO24_uc011kka.1_Missense_Mutation_p.A208V|LOC100129845_uc022air.1_Non-coding_Transcript	NM_012172	NP_036304	O75426	FBX24_HUMAN	Homo sapiens F-box protein 24 (FBXO24), transcript variant 3, mRNA.	220						ubiquitin ligase complex	ubiquitin-protein ligase activity			NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					AGCAGCCGGGCCTGTGACTGT	0.552000														27			14		0	0	0.004990	0	0
MUC16	94025	broad.mit.edu	37	19	9045834	9045834	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:9045834C>T	uc002mkp.3	-	4	36001	c.35797G>A	c.(35797-35799)Gaa>Aaa	p.E11933K		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	11935	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						CTGGAAAATTCTGGGGGTCCA	0.493000														90			27		0	0	0.006320	0	0
PIK3AP1	118788	broad.mit.edu	37	10	98380283	98380283	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:98380283G>A	uc001kmq.3	-	11	1895	c.1767C>T	c.(1765-1767)ccC>ccT	p.P589P	PIK3AP1_uc001kmo.3_Silent_p.P188P|PIK3AP1_uc001kmp.3_Silent_p.P411P	NM_152309	NP_689522	Q6ZUJ8	BCAP_HUMAN	Homo sapiens phosphoinositide-3-kinase adaptor protein 1 (PIK3AP1), mRNA.	589						cytoplasm|plasma membrane				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		TACTCGACTGGGGCCTGTCCC	0.582000														18			15		0	0	0.003163	0	0
PCLO	27445	broad.mit.edu	37	7	82785054	82785054	+	Silent	SNP	T	C	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:82785054T>C	uc003uhx.2	-	1	1192	c.903A>G	c.(901-903)ccA>ccG	p.P301P	PCLO_uc003uhv.2_Silent_p.P301P	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	300	Gln-rich.|Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GTGGTTTGGATGGGCTTGGCA	0.517000														37			9		0	0	0.000978	0	0
SLCO1B3	28234	broad.mit.edu	37	12	21229479	21229479	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:21229479G>A	uc010sil.2	+	14	2089	c.2024G>A	c.(2023-2025)aGg>aAg	p.R675K	SLCO1B3_uc010sim.2_Missense_Mutation_p.R614K|SLCO1B3_uc010sin.2_Missense_Mutation_p.R567K			Q9NPD5	SO1B3_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1B3 (SLCO1B3), mRNA.	638					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					GGGGCTTGTAGGATATATAAT	0.353000														131			68		0	0	0.003610	0	0
VPS13B	157680	broad.mit.edu	37	8	100654161	100654161	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:100654161G>A	uc003yiv.3	+	33	5529	c.5418G>A	c.(5416-5418)gtG>gtA	p.V1806V	VPS13B_uc003yiw.3_Silent_p.V1781V	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog B (yeast) (VPS13B), transcript variant 5, mRNA.	1806					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TCAGAATAGTGCAAATAGAGC	0.433000														36			21		0	0	0.002299	0	0
DNAH3	55567	broad.mit.edu	37	16	20994050	20994050	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:20994050G>A	uc010vbe.2	-	48	7852	c.7852C>T	c.(7852-7854)Cgg>Tgg	p.R2618W	DNAH3_uc010vbd.2_Missense_Mutation_p.R53W	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	2618	AAA 4 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TACTCTACCCGAATGTTGTCA	0.413000														36			16		0	0	0.001523	0	0
AQP4	361	broad.mit.edu	37	18	24440749	24440749	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr18:24440749C>T	uc002kwa.3	-	3	743	c.680G>A	c.(679-681)tGg>tAg	p.W227*	AQP4_uc002kvz.3_Nonsense_Mutation_p.W205*	NM_001650	NP_001641	P55087	AQP4_HUMAN	Homo sapiens aquaporin 4 (AQP4), transcript variant a, mRNA.	227					cellular response to interferon-gamma|excretion|nervous system development	cytoplasm|external side of plasma membrane|integral to plasma membrane	water channel activity			kidney(2)|large_intestine(3)|lung(5)|skin(1)	11	all_cancers(21;0.0172)|Lung NSC(5;0.00299)|all_lung(6;0.00747)|Ovarian(20;0.124)					ATGGTTTTCCCAATTTCCCAT	0.408000														101			44		0	0	0.003610	0	0
LCN1	3933	broad.mit.edu	37	9	138416719	138416719	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:138416719G>A	uc022bpk.1	+	4	503	c.443G>A	c.(442-444)aGa>aAa	p.R148K	LCN1_uc022bpj.1_Missense_Mutation_p.R145K|LCN1_uc004cfz.2_Silent_p.E149E|LCN1_uc004cga.2_Silent_p.E149E	NM_001252618	NP_001239547	P31025	LCN1_HUMAN	Homo sapiens lipocalin 1 (LCN1), transcript variant 3, mRNA.	0					proteolysis|response to stimulus|sensory perception of taste	extracellular region	cysteine-type endopeptidase inhibitor activity|transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)	13		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.54e-08)|Epithelial(140;5.25e-08)|all cancers(34;9.27e-07)|READ - Rectum adenocarcinoma(205;0.155)		AGGACTTTGAGAAAGCCGCAG	0.662000														9			3		0	0	0.004672	0	0
CEP95	90799	broad.mit.edu	37	17	62504836	62504836	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:62504836C>T	uc002jem.3	+	1	204	c.146C>T	c.(145-147)cCa>cTa	p.P49L	CEP95_uc002jen.3_Non-coding_Transcript|CEP95_uc010wqb.2_5'UTR|DDX5_uc010deh.2_5'Flank|DDX5_uc002jek.2_5'Flank|DDX5_uc002jej.2_5'Flank|DDX5_uc010wqa.1_5'Flank	NM_138363	NP_612372	Q96GE4	CEP95_HUMAN	Homo sapiens centrosomal protein 95kDa (CEP95), mRNA.	49						centrosome|spindle pole	protein binding			endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)	13						GAAAAGGTACCAGGTAAGAAT	0.294000														125			27		0	0	0.008361	0	0
ACIN1	22985	broad.mit.edu	37	14	23549735	23549735	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:23549735G>A	uc001wit.4	-	5	1311	c.983C>T	c.(982-984)tCc>tTc	p.S328F	ACIN1_uc001wis.4_Missense_Mutation_p.S10F|ACIN1_uc010akg.3_Missense_Mutation_p.S328F|ACIN1_uc010tnj.2_Missense_Mutation_p.S288F	NM_014977	NP_055792	Q9UKV3	ACINU_HUMAN	Homo sapiens apoptotic chromatin condensation inducer 1 (ACIN1), transcript variant 1, mRNA.	328	Glu-rich.				apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		CTGTTCCTGGGATCTTGTTTT	0.473000														57			24		0	0	0.003330	0	0
KIAA0368	23392	broad.mit.edu	37	9	114206667	114206668	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:114206667_114206668GG>AA	uc004bfe.1	-	4	794_795	c.794_795CC>TT	c.(793-795)tcc>tTT	p.S265F	KIAA0368_uc010muc.1_Missense_Mutation_p.S87F	NM_001080398	NP_001073867			Homo sapiens KIAA0368 (KIAA0368), mRNA.											NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						CTGTGACAAAGGAAACTGCAGC	0.386000														28			24		0	0	0.004672	0	0
MYPN	84665	broad.mit.edu	37	10	69934044	69934044	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:69934044C>T	uc001jnm.4	+	11	2380	c.2195C>T	c.(2194-2196)aCc>aTc	p.T732I	MYPN_uc001jnn.4_Missense_Mutation_p.T457I|MYPN_uc001jno.4_Missense_Mutation_p.T732I|MYPN_uc009xpt.3_Missense_Mutation_p.T732I|MYPN_uc010qit.2_Missense_Mutation_p.T438I|MYPN_uc010qiu.2_Non-coding_Transcript	NM_032578	NP_115967	Q86TC9	MYPN_HUMAN	Homo sapiens myopalladin (MYPN), transcript variant 1, mRNA.	732						nucleus|sarcomere	actin binding			breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						TCCACGAACACCACCGCAGCA	0.552000														70			38		0	0	0.006999	0	0
DUSP22	56940	broad.mit.edu	37	6	348797	348797	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:348797G>A	uc003msx.3	+	6	903	c.464G>A	c.(463-465)gGa>gAa	p.G155E	DUSP22_uc011dhn.1_Missense_Mutation_p.G155E|DUSP22_uc003msy.1_Missense_Mutation_p.G112E	NM_020185	NP_064570	Q9NRW4	DUS22_HUMAN	Homo sapiens dual specificity phosphatase 22 (DUSP22), mRNA.	155					apoptosis|cell proliferation|inactivation of MAPK activity|multicellular organismal development|positive regulation of JNK cascade|regulation of cell proliferation|transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(2)	26	all_hematologic(77;0.228)	Breast(5;0.0249)|all_hematologic(90;0.0489)		OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669)		GAAGAATATGGAGAGAGCCCT	0.557000														48			9		0	0	0.001368	0	0
MEGF10	84466	broad.mit.edu	37	5	126667112	126667112	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:126667112G>A	uc003kuh.4	+	2	474	c.112G>A	c.(112-114)Gaa>Aaa	p.E38K	MEGF10_uc010jdc.1_Missense_Mutation_p.E38K|MEGF10_uc010jdd.1_Missense_Mutation_p.E38K|MEGF10_uc003kui.4_Missense_Mutation_p.E38K	NM_032446	NP_115822	Q96KG7	MEG10_HUMAN	Homo sapiens multiple EGF-like-domains 10 (MEGF10), mRNA.	38	EMI.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		TAGCCACTGGGAAAGGTAATG	0.378000														62			31		0	0	0.003271	0	0
FOLH1B	219595	broad.mit.edu	37	11	89407312	89407312	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:89407312T>G	uc001pda.3	+	5	885	c.359T>G	c.(358-360)cTt>cGt	p.L120R		NM_153696	NP_710163	Q9HBA9	FOH1B_HUMAN	Homo sapiens folate hydrolase 1B (FOLH1B), mRNA.	120					proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity	p.G119C(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						GAATTTGGTCTTCTTGGTTCT	0.318000														34			16		0	0	0.003954	0	0
ZNF284	342909	broad.mit.edu	37	19	44591126	44591126	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:44591126C>T	uc002oyg.1	+	4	1711	c.1495C>T	c.(1495-1497)Cgt>Tgt	p.R499C	ZNF284_uc010ejd.2_Non-coding_Transcript	NM_001037813	NP_001032902	Q2VY69	ZN284_HUMAN	Homo sapiens zinc finger protein 284 (ZNF284), mRNA.	499					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	15		Prostate(69;0.0435)				TTCAAAACTTCGTTTCCATCA	0.418000														23			22		0	0	0.002299	0	0
DGKI	9162	broad.mit.edu	37	7	137263039	137263039	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:137263039G>A	uc003vtt.3	-	15	1676	c.1675C>T	c.(1675-1677)Cga>Tga	p.R559*	DGKI_uc003vtu.3_Nonsense_Mutation_p.R259*	NM_004717	NP_004708	O75912	DGKI_HUMAN	Homo sapiens diacylglycerol kinase, iota (DGKI), mRNA.	559					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	p.R559*(3)		breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						ATTTTATTTCGAAAACGACTG	0.338000														28			5		0	0	0.001984	0	0
TACSTD2	4070	broad.mit.edu	37	1	59042086	59042086	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:59042086C>T	uc001cyz.4	-	0	1081	c.743G>A	c.(742-744)gGa>gAa	p.G248E		NM_002353	NP_002344	P09758	TACD2_HUMAN	Homo sapiens tumor-associated calcium signal transducer 2 (TACSTD2), mRNA.	248					cell proliferation|cell surface receptor linked signaling pathway|visual perception	cytosol|integral to plasma membrane	receptor activity					all_cancers(7;6.54e-05)					CAGGGGTTCTCCGCGCACGCG	0.632000														14			8		0	0	0.008291	0	0
HMCN1	83872	broad.mit.edu	37	1	186113689	186113689	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:186113689C>T	uc001grq.1	+	90	14349	c.14120C>T	c.(14119-14121)gCc>gTc	p.A4707V	MIR548F1_uc021pgf.1_Intron|HMCN1_uc001grs.1_Missense_Mutation_p.A276V	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	4707	TSP type-1 4.				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						GCGACTTGGGCCAGTTGGAGT	0.512000														101			51		0	0	0.003610	0	0
TRIM48	79097	broad.mit.edu	37	11	55032679	55032679	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:55032679G>A	uc010rid.2	+	1	434	c.348G>A	c.(346-348)aaG>aaA	p.K116K		NM_024114	NP_077019	Q8IWZ4	TRI48_HUMAN	Homo sapiens tripartite motif containing 48 (TRIM48), mRNA.	100						intracellular	zinc ion binding			endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						GGGAGACAAAGAAGATGTTCT	0.527000														38			13		0	0	0.001855	0	0
NFKB2	4791	broad.mit.edu	37	10	104161508	104161508	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:104161508G>C	uc001kvb.3	+	20	2565	c.2300G>C	c.(2299-2301)gGa>gCa	p.G767A	NFKB2_uc001kva.3_Missense_Mutation_p.G767A|NFKB2_uc001kvd.3_Missense_Mutation_p.G767A|NFKB2_uc009xxc.3_Missense_Mutation_p.G767A	NM_001077494	NP_001070962	Q00653	NFKB2_HUMAN	Homo sapiens nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100) (NFKB2), transcript variant 1, mRNA.	767	Death.		Missing (in truncated form EB308).|Missing (in truncated form LB40).|Missing (in truncated form p80HT).		MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|innate immune response|positive regulation of NF-kappaB transcription factor activity|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	Bcl3/NF-kappaB2 complex|cytosol|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|skin(2)	23		Colorectal(252;0.00957)		Epithelial(162;3.4e-08)|all cancers(201;6.41e-07)		TAAGGGCCGGGACTGTCACTT	0.592000			T	IGH@	B-NHL									32			7		0	0	0.001984	0	0
PGLYRP2	114770	broad.mit.edu	37	19	15586637	15586637	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:15586637G>A	uc002nbg.3	-	1	977	c.844C>T	c.(844-846)Ctt>Ttt	p.L282F	PGLYRP2_uc002nbf.4_Missense_Mutation_p.L282F	NM_052890	NP_443122	Q96PD5	PGRP2_HUMAN	Homo sapiens peptidoglycan recognition protein 2 (PGLYRP2), mRNA.	282					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						TAGTCTCCAAGGATGACCCCA	0.622000														37			8		0	0	0.006214	0	0
MTUS2	23281	broad.mit.edu	37	13	29599898	29599898	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr13:29599898G>A	uc001usl.4	+	0	1151	c.1093G>A	c.(1093-1095)Gaa>Aaa	p.E365K		NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN	Homo sapiens microtubule associated tumor suppressor candidate 2 (MTUS2), transcript variant 1, mRNA.	355						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						AGCACACCCGGAAGCCACCGA	0.577000														24			4		0	0	0.000248	0	0
RNF150	57484	broad.mit.edu	37	4	141889002	141889002	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:141889002C>T	uc003iio.1	-	1	1164	c.510G>A	c.(508-510)atG>atA	p.M170I	RNF150_uc010iok.1_Missense_Mutation_p.M170I|RNF150_uc003iip.1_Missense_Mutation_p.M170I	NM_020724	NP_065775	Q9ULK6	RN150_HUMAN	Homo sapiens ring finger protein 150 (RNF150), mRNA.	170	PA.					integral to membrane	zinc ion binding			breast(1)|large_intestine(10)|lung(7)|ovary(1)	19	all_hematologic(180;0.162)					GCTCAGGAATCATTATGGCCA	0.478000														74			34		0	0	0.003271	0	0
CAPN13	92291	broad.mit.edu	37	2	30998846	30998846	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:30998846G>A	uc021vfn.1	-	2	369	c.337C>T	c.(337-339)Ctg>Ttg	p.L113L	CAPN13_uc021vfm.1_Silent_p.L113L|CAPN13_uc002rnp.1_Silent_p.L113L	NM_144575	NP_653176	Q6MZZ7	CAN13_HUMAN	Homo sapiens calpain 13 (CAPN13), mRNA.	113	Calpain catalytic.				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					TGGACCATCAGGATCTTCTGC	0.522000														42			9		0	0	0.008291	0	0
C20orf194	25943	broad.mit.edu	37	20	3251088	3251088	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr20:3251088T>A	uc002wii.2	-	29	2822	c.2771A>T	c.(2770-2772)aAt>aTt	p.N924I	C20orf194_uc002wij.3_Missense_Mutation_p.N663I|C20orf194_uc002wik.2_Missense_Mutation_p.N598I	NM_001009984	NP_001009984	Q5TEA3	CT194_HUMAN	Homo sapiens chromosome 20 open reading frame 194 (C20orf194), mRNA.	924										NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	39						GACAATCCCATTTTCTGCAAG	0.507000														69			60		0	0	0.003610	0	0
CATSPERD	257062	broad.mit.edu	37	19	5778626	5778626	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:5778626G>A	uc002mda.3	+	21	2397	c.2336G>A	c.(2335-2337)aGg>aAg	p.R779K		NM_152784	NP_689997	Q86XM0	TM146_HUMAN	Homo sapiens transmembrane protein 146 (TMEM146), mRNA.	779						integral to membrane											GCCACAGCCAGGGCAGGCACA	0.632000														53			27		0	0	0.002096	0	0
PREX2	80243	broad.mit.edu	37	8	69020425	69020425	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:69020425T>A	uc003xxv.1	+	23	2824	c.2797T>A	c.(2797-2799)Ttc>Atc	p.F933I	PREX2_uc011lez.1_Missense_Mutation_p.F868I	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA.	933					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						CAGCAGTGATTTCTGCCCTAC	0.423000														37			15		0	0	0.004007	0	0
SLC39A4	55630	broad.mit.edu	37	8	145641266	145641266	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:145641266C>T	uc003zcq.3	-	1	502	c.402G>A	c.(400-402)aaG>aaA	p.K134K	SLC39A4_uc003zcm.1_5'Flank|SLC39A4_uc003zcn.3_5'Flank|SLC39A4_uc003zco.3_5'Flank|SLC39A4_uc003zcp.3_Silent_p.K109K	NM_130849	NP_570901	Q6P5W5	S39A4_HUMAN	Homo sapiens solute carrier family 39 (zinc transporter), member 4 (SLC39A4), transcript variant 2, mRNA.	134						cytoplasmic membrane-bounded vesicle|integral to membrane|recycling endosome membrane	zinc ion transmembrane transporter activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	14	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;1.12e-40)|all cancers(56;8.17e-36)|BRCA - Breast invasive adenocarcinoma(115;0.0407)|Colorectal(110;0.055)			GGGTCAGGGCCTTGGGGCTCT	0.701000														7			3		0	0	0.000248	0	0
PPFIA2	8499	broad.mit.edu	37	12	81734989	81734989	+	Splice_Site	SNP	T	C	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:81734989T>C	uc001szo.2	-	20	2424	c.2263_splice	c.e20-1	p.I755_splice	PPFIA2_uc010sug.2_Splice_Site|PPFIA2_uc021rbg.1_Splice_Site_p.I681_splice|PPFIA2_uc021rbh.1_Splice_Site_p.I656_splice|PPFIA2_uc021rbi.1_Splice_Site_p.I755_splice|PPFIA2_uc021rbj.1_Splice_Site_p.I755_splice|PPFIA2_uc021rbk.1_Splice_Site_p.I737_splice|PPFIA2_uc021rbl.1_Splice_Site_p.I755_splice|PPFIA2_uc010sue.2_Intron|PPFIA2_uc021rbe.1_Splice_Site_p.I322_splice|PPFIA2_uc021rbf.1_Splice_Site	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.	681										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						AACTGCAATCTAGAAGCAAAA	0.378000														58			24		0	0	0.006320	0	0
CST11	140880	broad.mit.edu	37	20	23433368	23433368	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr20:23433368C>T	uc002wtf.1	-	0	115	c.81G>A	c.(79-81)agG>agA	p.R27R	CST11_uc002wtg.1_Silent_p.R27R	NM_130794	NP_570612	Q9H112	CST11_HUMAN	Homo sapiens cystatin 11 (CST11), transcript variant 1, mRNA.	27					defense response to bacterium	cytoplasm|nucleus	cysteine-type endopeptidase inhibitor activity			kidney(2)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	14	Colorectal(13;0.0431)|Lung NSC(19;0.235)					AGGTTTTCTTCCTTGCTTGGT	0.507000														78			29		0	0	0.005443	0	0
TSPAN1	10103	broad.mit.edu	37	1	46649919	46649919	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:46649919C>T	uc001cpd.3	+	3	588	c.114C>T	c.(112-114)tcC>tcT	p.S38S		NM_005727	NP_005718	O60635	TSN1_HUMAN	Homo sapiens tetraspanin 1 (TSPAN1), mRNA.	38			S -> F (in dbSNP:rs2234267).			integral to membrane|lysosomal membrane				kidney(1)|large_intestine(1)|lung(5)|ovary(1)	8	Acute lymphoblastic leukemia(166;0.155)	Medulloblastoma(700;0.00498)|all_neural(321;0.0212)				ATGGGGCATCCTTTCTGAAGA	0.572000														62			17		0	0	0.008871	0	0
VPREB1	7441	broad.mit.edu	37	22	22599239	22599239	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr22:22599239C>T	uc002zvx.1	+	0	40	c.14C>T	c.(13-15)cCt>cTt	p.P5L	abParts_uc021wml.1_Intron	NM_007128	NP_009059	P12018	VPREB_HUMAN	Homo sapiens pre-B lymphocyte 1 (VPREB1), mRNA.	5					immune response	extracellular region	antigen binding|protein binding			large_intestine(1)|liver(1)|lung(6)|skin(1)	9	all_hematologic(9;0.0312)|Acute lymphoblastic leukemia(84;0.155)	all_cancers(3;3.14e-14)|Acute lymphoblastic leukemia(3;2.97e-57)|all_hematologic(3;5.9e-52)		READ - Rectum adenocarcinoma(21;0.145)		TCCTGGGCTCCTGTCCTGCTC	0.637000														31			14		0	0	0.004990	0	0
LHX4	89884	broad.mit.edu	37	1	180243580	180243580	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:180243580G>A	uc001goe.2	+	5	1271	c.1039G>A	c.(1039-1041)Gga>Aga	p.G347R	LOC100527964_uc001gof.2_Intron	NM_033343	NP_203129	Q969G2	LHX4_HUMAN	Homo sapiens LIM homeobox 4 (LHX4), mRNA.	347						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)	16						TGCAGGGCAGGGAGTAAGCCA	0.572000														134			25		0	0	0.003954	0	0
PRKAA1	5562	broad.mit.edu	37	5	40764629	40764629	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:40764629G>A	uc003jmb.3	-	8	1473	c.1467C>T	c.(1465-1467)ttC>ttT	p.F489F	PRKAA1_uc003jmc.3_Silent_p.F474F	NM_206907	NP_996790	Q13131	AAPK1_HUMAN	Homo sapiens protein kinase, AMP-activated, alpha 1 catalytic subunit (PRKAA1), transcript variant 2, mRNA.	474					activation of MAPK activity|cell cycle arrest|cholesterol biosynthetic process|fatty acid biosynthetic process|insulin receptor signaling pathway|negative regulation of glucosylceramide biosynthetic process|positive regulation of anti-apoptosis|positive regulation of cholesterol biosynthetic process|regulation of fatty acid oxidation|response to hypoxia	cytosol	ATP binding|cAMP-dependent protein kinase activity|metal ion binding|protein binding			breast(1)	1					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Phenformin(DB00914)	CAATACTACGGAAATCCAGTA	0.363000														26			9		0	0	0.004482	0	0
PGLYRP2	114770	broad.mit.edu	37	19	15586610	15586610	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:15586610C>T	uc002nbg.3	-	1	1004	c.871G>A	c.(871-873)Gag>Aag	p.E291K	PGLYRP2_uc002nbf.4_Missense_Mutation_p.E291K	NM_052890	NP_443122	Q96PD5	PGRP2_HUMAN	Homo sapiens peptidoglycan recognition protein 2 (PGLYRP2), mRNA.	291					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						GGCCGGGGCTCAGGAGTCCGG	0.612000														27			8		0	0	0.004482	0	0
SCN9A	6335	broad.mit.edu	37	2	167056155	167056155	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:167056155T>C	uc010fpl.3	-	26	5302	c.4961A>G	c.(4960-4962)aAc>aGc	p.N1654S	BC051759_uc002udp.3_Non-coding_Transcript	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA.	1665						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	ATAGGCAAAGTTGGACATTCC	0.423000														81			45		0	0	0.003214	0	0
SEPT5	5413	broad.mit.edu	37	22	19707911	19707911	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr22:19707911A>G	uc002zpv.2	+	5	556	c.431A>G	c.(430-432)aAc>aGc	p.N144S	SEPT5_uc002zpw.1_Missense_Mutation_p.N153S|SEPT5_uc002zpx.1_Non-coding_Transcript|GP1BB_uc002zpz.2_5'UTR	NM_002688	NP_002679	Q99719	SEPT5_HUMAN	Homo sapiens septin 5 (SEPT5), transcript variant 1, mRNA.	144					cell cycle|cytokinesis|regulation of exocytosis|synaptic vesicle targeting	plasma membrane|septin complex|synaptic vesicle	GTP binding|GTPase activity|protein binding|structural molecule activity			lung(1)|upper_aerodigestive_tract(1)	2	Colorectal(54;0.0993)					AGCGGCCTCAACCGAAAGAAC	0.602000														30			13		0	0	0.001368	0	0
TRPM5	29850	broad.mit.edu	37	11	2441489	2441489	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:2441489C>T	uc010qxl.2	-	3	621	c.612G>A	c.(610-612)ctG>ctA	p.L204L	TRPM5_uc001lwm.4_Silent_p.L204L|TRPM5_uc009ydn.3_Silent_p.L206L	NM_014555	NP_055370	Q9NZQ8	TRPM5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 5 (TRPM5), mRNA.	204						integral to membrane|plasma membrane	receptor activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		TGTGCTTCTCCAGCCTCAGCC	0.692000														117			55		0	0	0.003610	0	0
ALG2	85365	broad.mit.edu	37	9	101981082	101981082	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:101981082G>A	uc004azf.3	-	1	455	c.385C>T	c.(385-387)Cgg>Tgg	p.R129W	ALG2_uc004azg.3_Missense_Mutation_p.R36W	NM_033087	NP_149078	Q9H553	ALG2_HUMAN	Homo sapiens asparagine-linked glycosylation 2, alpha-1,3-mannosyltransferase homolog (S. cerevisiae) (ALG2), transcript variant 1, mRNA.	129					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein glycosylation in endoplasmic reticulum|response to calcium ion	endoplasmic reticulum membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm	alpha-1,3-mannosyltransferase activity|calcium-dependent protein binding|glycolipid 3-alpha-mannosyltransferase activity|protein N-terminus binding|protein anchor|protein heterodimerization activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|prostate(2)	22		Acute lymphoblastic leukemia(62;0.0559)				TTCTTCCGCCGTCTAGCCAGC	0.448000														63			18		0	0	0.007413	0	0
MEI1	150365	broad.mit.edu	37	22	42172208	42172208	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr22:42172208C>T	uc003baz.1	+	20	2672	c.2647C>T	c.(2647-2649)Cga>Tga	p.R883*	bK250D10.C22.8_uc003bba.1_Intron|MEI1_uc011apd.1_Non-coding_Transcript|MEI1_uc003bbb.1_Nonsense_Mutation_p.R269*|MEI1_uc003bbc.1_Nonsense_Mutation_p.R251*|MEI1_uc010gym.1_Nonsense_Mutation_p.R251*|MEI1_uc003bbd.1_Nonsense_Mutation_p.R126*|MEI1_uc010gyn.1_Non-coding_Transcript|MEI1_uc003bbe.1_Non-coding_Transcript	NM_152513	NP_689726	Q5TIA1	MEI1_HUMAN	Homo sapiens meiosis inhibitor 1 (MEI1), mRNA.	883							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						CGGTCTTATCCGAGGCCACTT	0.562000														53			20		0	0	0.001523	0	0
OR13C8	138802	broad.mit.edu	37	9	107332281	107332282	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:107332281_107332282CC>TT	uc011lvo.2	+	0	833_834	c.833_834CC>TT	c.(832-834)gcc>gTT	p.A278V		NM_001004483	NP_001004483	Q8NGS7	O13C8_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 8 (OR13C8), mRNA.	278					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						ATCATTGAGGCCCTCATCTCCC	0.421000														53			27		0	0	0.004672	0	0
CASC5	57082	broad.mit.edu	37	15	40913706	40913706	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:40913706C>T	uc010bbs.1	+	10	1483	c.1322C>T	c.(1321-1323)tCt>tTt	p.S441F	CASC5_uc010ucq.1_Missense_Mutation_p.S265F|CASC5_uc001zme.3_Missense_Mutation_p.S415F|CASC5_uc010bbt.1_Missense_Mutation_p.S415F	NM_170589	NP_733468	Q8NG31	CASC5_HUMAN	Homo sapiens cancer susceptibility candidate 5 (CASC5), transcript variant 1, mRNA.	441	Interaction with BUB1 and BUB1B.				CenH3-containing nucleosome assembly at centromere|acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding	p.S441Y(2)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		ACCCCAGAATCTATATATTCT	0.358000														112			20		0	0	0.002299	0	0
AHNAK2	113146	broad.mit.edu	37	14	105410925	105410925	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:105410925C>A	uc010axc.1	-	6	10983	c.10863G>T	c.(10861-10863)gaG>gaT	p.E3621D	AHNAK2_uc021sen.1_5'Flank|AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Missense_Mutation_p.E3521D	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	3621						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)			ACAGGTCTCCCTCCAGCCGCC	0.597000														53			74		1.43161e-34	1.74578e-34	0.003610	1	0
SLC52A1	55065	broad.mit.edu	37	17	4937287	4937287	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:4937287C>T	uc002gap.4	-	2	1210	c.497G>A	c.(496-498)gGt>gAt	p.G166D	SLC52A1_uc002gao.4_Missense_Mutation_p.G166D|SLC52A1_uc010ckw.3_Missense_Mutation_p.G44D|SLC52A1_uc010ckx.3_Missense_Mutation_p.G166D	NM_001104577	NP_060456	Q9NWF4	RFT_HUMAN	Homo sapiens G protein-coupled receptor 172B (GPR172B), transcript variant 1, mRNA.	166						integral to plasma membrane	receptor activity|riboflavin transporter activity										GCGGCCCACACCTTGCACTAG	0.632000														34			14		0	0	0.001855	0	0
RGS6	9628	broad.mit.edu	37	14	72941367	72941367	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:72941367G>A	uc001xna.4	+	9	1176	c.653G>A	c.(652-654)cGa>cAa	p.R218Q	RGS6_uc021rvv.1_Missense_Mutation_p.R183Q|RGS6_uc010ttn.2_Missense_Mutation_p.R218Q|RGS6_uc021rvw.1_Missense_Mutation_p.R218Q|RGS6_uc021rvx.1_Missense_Mutation_p.R218Q|RGS6_uc021rvy.1_Missense_Mutation_p.R218Q|RGS6_uc021rvz.1_Missense_Mutation_p.R218Q|RGS6_uc001xmy.4_Missense_Mutation_p.R218Q|RGS6_uc010tto.2_Non-coding_Transcript|RGS6_uc001xmx.4_Missense_Mutation_p.R218Q|RGS6_uc021rwa.1_Missense_Mutation_p.R218Q|RGS6_uc021rwb.1_Missense_Mutation_p.R218Q|RGS6_uc010ttp.1_Missense_Mutation_p.R149Q|RGS6_uc021rwc.1_Missense_Mutation_p.R79Q	NM_001204423	NP_001191352	P49758	RGS6_HUMAN	Homo sapiens regulator of G-protein signaling 6 (RGS6), transcript variant 9, mRNA.	218					G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33				all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)		ATGGATATCCGAAAATGTCGA	0.363000														27			13		0	0	0.004007	0	0
FANCM	57697	broad.mit.edu	37	14	45618195	45618195	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:45618195C>T	uc001wwd.4	+	3	1014	c.915C>T	c.(913-915)atC>atT	p.I305I	FANCM_uc001wwc.2_Silent_p.I305I|FANCM_uc010anf.3_Silent_p.I279I	NM_020937	NP_065988	Q8IYD8	FANCM_HUMAN	Homo sapiens Fanconi anemia, complementation group M (FANCM), mRNA.	305					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						AGACCTATATCCAGGTAAACC	0.313000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia					30			12		0	0	0.001855	0	0
FAM111A	63901	broad.mit.edu	37	11	58919326	58919326	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:58919326C>T	uc010rkp.2	+	4	412	c.185C>T	c.(184-186)tCa>tTa	p.S62L	FAM111A_uc010rkq.2_Missense_Mutation_p.S62L|FAM111A_uc010rkr.2_Missense_Mutation_p.S62L|FAM111A_uc001nno.3_Missense_Mutation_p.S62L|FAM111A_uc001nnp.3_Missense_Mutation_p.S62L|FAM111A_uc001nnq.3_Missense_Mutation_p.S62L	NM_001142521	NP_942144	Q96PZ2	F111A_HUMAN	Homo sapiens family with sequence similarity 111, member A (FAM111A), transcript variant 5, mRNA.	62					proteolysis		serine-type endopeptidase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_epithelial(135;0.139)				AGATTCCATTCACCTAAGAAA	0.403000														71			47		0	0	0.002852	0	0
EFHA2	286097	broad.mit.edu	37	8	16961967	16961967	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:16961967G>T	uc003wxd.2	+	9	1094	c.1052G>T	c.(1051-1053)gGa>gTa	p.G351V		NM_181723	NP_859074	Q86XE3	EFHA2_HUMAN	Homo sapiens EF-hand domain family, member A2 (EFHA2), mRNA.	351						integral to membrane	calcium ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(1)|skin(4)	23				Colorectal(111;0.0686)|COAD - Colon adenocarcinoma(73;0.239)		GGAAAGAAAGGAAAAGCTGAG	0.279000														68			17		1.33834e-09	1.61936e-09	0.007413	1	0
PRDM9	56979	broad.mit.edu	37	5	23523410	23523410	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:23523410G>A	uc003jgo.3	+	8	1075	c.893G>A	c.(892-894)gGg>gAg	p.G298E		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	Homo sapiens PR domain containing 9 (PRDM9), mRNA.	298	SET.				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	p.K297*(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						ATCACCAAGGGGAGAAACTGC	0.438000										HNSCC(3;0.000094)				62			28		0	0	0.001786	0	0
DIAPH3	81624	broad.mit.edu	37	13	60566234	60566234	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr13:60566234G>A	uc001vht.3	-	10	1431	c.1212C>T	c.(1210-1212)tcC>tcT	p.S404S	DIAPH3_uc001vhu.3_Silent_p.S141S|DIAPH3_uc001vhv.3_5'Flank|DIAPH3_uc001vhw.1_Silent_p.S393S|DIAPH3_uc010aed.1_Silent_p.S358S|DIAPH3_uc010aee.1_Silent_p.S334S	NM_001042517	NP_001035982	Q9NSV4	DIAP3_HUMAN	Homo sapiens diaphanous homolog 3 (Drosophila) (DIAPH3), transcript variant 1, mRNA.	404	GBD/FH3.				actin cytoskeleton organization		Rho GTPase binding|actin binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		CAAGGCGATGGGATAACTCAA	0.313000														58			23		0	0	0.002780	0	0
PREX2	80243	broad.mit.edu	37	8	69021805	69021805	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:69021805C>T	uc003xxv.1	+	24	3120	c.3093C>T	c.(3091-3093)ggC>ggT	p.G1031G	PREX2_uc011lez.1_Silent_p.G966G	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA.	1031					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						AACTGCTGGGCAAACTTCAGA	0.418000														83			20		0	0	0.001882	0	0
ADAMTSL1	92949	broad.mit.edu	37	9	18622265	18622265	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:18622265G>A	uc003zne.4	+	4	651	c.499G>A	c.(499-501)Gga>Aga	p.G167R	ADAMTSL1_uc003znb.3_Missense_Mutation_p.G167R|ADAMTSL1_uc003znc.4_Missense_Mutation_p.G167R	NM_001040272	NP_001035362	Q8N6G6	ATL1_HUMAN	Homo sapiens ADAMTS-like 1 (ADAMTSL1), transcript variant 4, mRNA.	167						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		TCACCAGCTGGGAAGCACCGT	0.517000														18			24		0	0	0.005443	0	0
OR2Z1	284383	broad.mit.edu	37	19	8841889	8841889	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:8841889C>T	uc010xkg.2	+	0	499	c.499C>T	c.(499-501)Ccc>Tcc	p.P167S		NM_001004699	NP_001004699	Q8NG97	OR2Z1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily Z, member 1 (OR2Z1), mRNA.	167					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P167L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CCTGCATTTTCCCTACTGTGC	0.552000														75			35		0	0	0.003755	0	0
GPC6	10082	broad.mit.edu	37	13	94938645	94938645	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr13:94938645A>G	uc001vlt.3	+	4	1552	c.920A>G	c.(919-921)aAc>aGc	p.N307S	GPC6_uc010tig.1_Missense_Mutation_p.N307S	NM_005708	NP_005699	Q9Y625	GPC6_HUMAN	Homo sapiens glypican 6 (GPC6), mRNA.	307						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	38	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)				GGGCCATTCAACATTGAGTCG	0.448000														41			12		0	0	0.001368	0	0
RAET1E	135250	broad.mit.edu	37	6	150211055	150211055	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:150211055G>A	uc003qnl.1	-	1	445	c.312C>T	c.(310-312)ctC>ctT	p.L104L	LOC100652739_uc003qni.2_Intron|RAET1E_uc003qnj.3_Silent_p.L104L|RAET1E_uc003qnk.2_Silent_p.L68L|RAET1E_uc010kih.1_Intron|RAET1E_uc021zgq.1_Silent_p.L104L|LOC100652739_uc021zgr.1_5'Flank	NM_139165	NP_631904	Q8TD07	N2DL4_HUMAN	Homo sapiens retinoic acid early transcript 1E (RAET1E), transcript variant 1, mRNA.	104	MHC class I alpha-1 like.				antigen processing and presentation|immune response|regulation of immune response	MHC class I protein complex|integral to membrane	protein binding			cervix(1)|kidney(2)|large_intestine(3)|lung(3)|skin(1)	10		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.58e-12)		TGTCACAAAGGAGCATCCTGA	0.542000														59			19		0	0	0.002299	0	0
OR4A47	403253	broad.mit.edu	37	11	48510616	48510616	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:48510616C>T	uc010rhx.2	+	0	272	c.272C>T	c.(271-273)tCc>tTc	p.S91F		NM_001005512	NP_001005512	Q6IF82	O4A47_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 47 (OR4A47), mRNA.	91					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						AATTCCATATCCTTCCAATCT	0.423000														88			36		0	0	0.006999	0	0
FAM160A2	84067	broad.mit.edu	37	11	6238931	6238931	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:6238931G>A	uc001mck.4	-	8	2286	c.1927C>T	c.(1927-1929)Cac>Tac	p.H643Y	FAM160A2_uc001mcl.4_Missense_Mutation_p.H629Y|FAM160A2_uc001mcm.2_Missense_Mutation_p.H629Y	NM_032127	NP_115503	Q8N612	F16A2_HUMAN	Homo sapiens family with sequence similarity 160, member A2 (FAM160A2), transcript variant 1, mRNA.	629					early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport	FHF complex	protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GGGGGCAGGTGACCAGGGccc	0.662000														10			6		0	0	0.001168	0	0
UGT2A1	10941	broad.mit.edu	37	4	70464963	70464963	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:70464963C>T	uc011caq.2	-	4	1610	c.1494_splice	c.e4+1	p.K498_splice	UGT2A1_uc010ihu.3_Splice_Site_p.K332_splice|UGT2A1_uc003hem.4_Splice_Site_p.K288_splice|UGT2A1_uc010ihs.3_Splice_Site_p.K297_splice|UGT2A1_uc021xox.1_Splice_Site_p.K297_splice|UGT2A1_uc010iht.3_Splice_Site_p.K288_splice	NM_001252274	NP_001239203	Q9Y4X1	UD2A1_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus (UGT2A1), transcript variant 2, mRNA.	288					detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						TGTAGACCTACCTTAGGTAAA	0.343000														22			6		0	0	0.001984	0	0
LRRN1	57633	broad.mit.edu	37	3	3887440	3887440	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:3887440C>T	uc003bpt.4	+	1	1876	c.1115C>T	c.(1114-1116)cCc>cTc	p.P372L	SUMF1_uc003bps.2_Intron|LRRN1_uc021wsh.1_Missense_Mutation_p.P372L	NM_020873	NP_065924	Q6UXK5	LRRN1_HUMAN	Homo sapiens leucine rich repeat neuronal 1 (LRRN1), mRNA.	372	LRRCT.					integral to membrane				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		CATAGCAATCCCCTCAGGTGT	0.488000														47			26		0	0	0.008361	0	0
RXFP3	51289	broad.mit.edu	37	5	33936924	33936924	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:33936924C>T	uc003jic.2	+	0	434	c.79C>T	c.(79-81)Ctg>Ttg	p.L27L		NM_016568	NP_057652	Q9NSD7	RL3R1_HUMAN	Homo sapiens relaxin/insulin-like family peptide receptor 3 (RXFP3), mRNA.	27						integral to plasma membrane	N-formyl peptide receptor activity			endometrium(4)|large_intestine(9)|lung(24)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)	42						ACTCTTCAGTCTGGTCCCGGA	0.622000														50			24		0	0	0.003330	0	0
TRPM6	140803	broad.mit.edu	37	9	77377950	77377950	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:77377950C>T	uc004ajl.1	-	25	3875	c.3637G>A	c.(3637-3639)Gat>Aat	p.D1213N	TRPM6_uc004ajk.1_Missense_Mutation_p.D1208N|TRPM6_uc022bib.1_Missense_Mutation_p.D1208N|TRPM6_uc010mpb.1_Non-coding_Transcript|TRPM6_uc010mpc.1_Intron|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron|TRPM6_uc004ajj.1_Missense_Mutation_p.D169N	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 6 (TRPM6), transcript variant a, mRNA.	1213					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity	p.Q1212*(1)		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						GCAGAGAGATCCTGCAGGTGT	0.468000														60			25		0	0	0.006320	0	0
SLA	6503	broad.mit.edu	37	8	134072418	134072418	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:134072418C>T	uc011ljd.2	-	0	186	c.108G>A	c.(106-108)ggG>ggA	p.G36G	TG_uc003ytw.3_Intron|TG_uc010mdw.3_Intron|TG_uc011ljb.2_Intron|TG_uc011ljc.2_Intron|SLA_uc003ytz.3_5'UTR|SLA_uc011lje.2_Silent_p.G13G|SLA_uc011ljf.2_Intron|SLA_uc011ljg.2_Silent_p.G13G|SLA_uc010mdy.1_5'UTR|SLA_uc010mdz.1_5'UTR|SLA_uc010mea.2_Non-coding_Transcript	NM_006748	NP_006739	Q13239	SLAP1_HUMAN	Homo sapiens Src-like-adaptor (SLA), transcript variant 3, mRNA.	0	SH3.					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)			CTTTCTTTTTCCCTGGGGCCG	0.582000														54			30		0	0	0.008361	0	0
CFTR	1080	broad.mit.edu	37	7	117246789	117246789	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:117246789C>T	uc003vjd.3	+	17	3102	c.2970C>T	c.(2968-2970)acC>acT	p.T990T	CFTR_uc011knq.2_Silent_p.T396T	NM_000492	NP_000483	P13569	CFTR_HUMAN	Homo sapiens cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) (CFTR), mRNA.	990	ABC transmembrane type-1 2.				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.L989R(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)	TGCCTCTTACCATATTTGACT	0.289000									Cystic Fibrosis					132			53		0	0	0.003610	0	0
COL6A3	1293	broad.mit.edu	37	2	238249377	238249377	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:238249377C>T	uc002vwl.2	-	37	8467	c.8182G>A	c.(8182-8184)Gaa>Aaa	p.E2728K	COL6A3_uc002vwo.2_Missense_Mutation_p.E2522K|COL6A3_uc010znj.1_Missense_Mutation_p.E2121K|COL6A3_uc002vwj.2_Missense_Mutation_p.E109K	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	2728	Nonhelical region.|VWFA 12.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GGGGCACTTTCAAAGACATTC	0.562000														58			28		0	0	0.008361	0	0
SCAMP5	192683	broad.mit.edu	37	15	75309020	75309020	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:75309020T>A	uc002azn.2	+	3	410	c.223T>A	c.(223-225)Ttt>Att	p.F75I	SCAMP5_uc002azl.2_Missense_Mutation_p.F75I|SCAMP5_uc002azm.2_Missense_Mutation_p.F75I|SCAMP5_uc002azk.2_Missense_Mutation_p.F75I|SCAMP5_uc010uly.2_Intron	NM_138967	NP_620417	Q8TAC9	SCAM5_HUMAN	Homo sapiens secretory carrier membrane protein 5 (SCAMP5), transcript variant 3, mRNA.	75					exocytosis|negative regulation of endocytosis|positive regulation of calcium ion-dependent exocytosis|positive regulation of cytokine secretion|protein transport|response to endoplasmic reticulum stress	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane|trans-Golgi network membrane	protein binding			large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	5						TGGCCTCGCCTTTCTCTGGCT	0.602000														38			28		0	0	0.007291	0	0
GFM1	85476	broad.mit.edu	37	3	158376776	158376776	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:158376776C>T	uc003fce.3	+	8	1256	c.1149C>T	c.(1147-1149)acC>acT	p.T383T	GFM1_uc003fcd.3_Silent_p.T383T|GFM1_uc003fcg.3_Silent_p.T314T	NM_024996	NP_079272	Q96RP9	EFGM_HUMAN	Homo sapiens G elongation factor, mitochondrial 1 (GFM1), nuclear gene encoding mitochondrial protein, mRNA.	383					mitochondrial translational elongation	mitochondrion	GTP binding|GTPase activity|translation elongation factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|urinary_tract(2)	22			Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)			AGGGTGACACCATCTATAACA	0.448000														47			22		0	0	0.002299	0	0
MUC16	94025	broad.mit.edu	37	19	9082654	9082654	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:9082654G>A	uc002mkp.3	-	0	9365	c.9161C>T	c.(9160-9162)tCa>tTa	p.S3054L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	3055	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						AAGAAATAGTGAAGTCTTTCT	0.478000														94			28		0	0	0.008361	0	0
TTN	7273	broad.mit.edu	37	2	179600381	179600381	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:179600381C>T	uc021vsy.1	-	46	11285	c.11060G>A	c.(11059-11061)gGg>gAg	p.G3687E	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.G348E	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	4614	Ig-like 22.						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)			ATAATCTTTCCCTGGGGGGAG	0.413000														43			22		0	0	0.006320	0	0
FAM171A1	221061	broad.mit.edu	37	10	15256467	15256468	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:15256467_15256468GG>AA	uc001iob.3	-	7	1126_1127	c.1119_1120CC>TT	c.(1117-1122)ttccct>ttTTct	p.P374S		NM_001010924	NP_001010924	Q5VUB5	F1711_HUMAN	Homo sapiens family with sequence similarity 171, member A1 (FAM171A1), mRNA.	374						integral to membrane				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						AGCGGGCCAGGGAATTCTGACG	0.589000														38			13		0	0	0.004672	0	0
THSD7B	80731	broad.mit.edu	37	2	137990490	137990490	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:137990490G>T	uc002tva.1	+	7	1844	c.1844G>T	c.(1843-1845)aGt>aTt	p.S615I	THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.3_Missense_Mutation_p.S505I	NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		TGTCCCCCTAGTCAGGCTCTC	0.453000														24			14		1.5739e-10	1.9058e-10	0.004007	1	0
ZNF560	147741	broad.mit.edu	37	19	9581123	9581123	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:9581123C>T	uc002mlp.1	-	6	603	c.393G>A	c.(391-393)caG>caA	p.Q131Q	ZNF560_uc010dwr.1_Silent_p.Q25Q	NM_152476	NP_689689	Q96MR9	ZN560_HUMAN	Homo sapiens zinc finger protein 560 (ZNF560), mRNA.	131	KRAB 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						ACAGGTTTCTCTGAGCTGGGT	0.478000														55			25		0	0	0.003330	0	0
ZNF43	7594	broad.mit.edu	37	19	21992020	21992020	+	Silent	SNP	A	G	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:21992020A>G	uc002nqj.3	-	3	949	c.819T>C	c.(817-819)ctT>ctC	p.L273L	ZNF43_uc002nql.3_Silent_p.L267L|ZNF43_uc002nqm.3_Silent_p.L267L|ZNF43_uc010ecv.3_Silent_p.L267L|ZNF43_uc002nqk.3_Silent_p.L203L	NM_003423	NP_003414	P17038	ZNF43_HUMAN	Homo sapiens zinc finger protein 43 (ZNF43), mRNA.	273					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			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)		TATGGGTAGTAAGGATTGAGG	0.338000														46			29		0	0	0.008361	0	0
THBS3	7059	broad.mit.edu	37	1	155172102	155172102	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:155172102C>T	uc001fix.3	-	8	1153	c.1048G>A	c.(1048-1050)Ggc>Agc	p.G350S	THBS3_uc021pat.1_5'Flank|THBS3_uc010pfu.2_Missense_Mutation_p.G230S|THBS3_uc009wqi.3_Missense_Mutation_p.G341S|THBS3_uc001fiy.3_5'UTR|THBS3_uc010pfv.2_Non-coding_Transcript|THBS3_uc001fja.2_Non-coding_Transcript	NM_007112	NP_009043	P49746	TSP3_HUMAN	Homo sapiens thrombospondin 3 (THBS3), transcript variant 1, mRNA.	350	EGF-like 2; calcium-binding (Potential).				cell-matrix adhesion	extracellular region|perinuclear region of cytoplasm	calcium ion binding|heparin binding|structural molecule activity			breast(6)|endometrium(4)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(3)	48	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		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)			ACCTGTGTGCCCTTGTACCCT	0.607000														44			17		0	0	0.007413	0	0
NOTCH2	4853	broad.mit.edu	37	1	120458524	120458524	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:120458524G>A	uc001eik.3	-	33	7118	c.6821C>T	c.(6820-6822)cCa>cTa	p.P2274L		NM_024408	NP_077719	Q04721	NOTC2_HUMAN	Homo sapiens notch 2 (NOTCH2), transcript variant 1, mRNA.	2274					Notch receptor processing|Notch signaling pathway|anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		GCCCTCAGCTGGAGCCAGGAC	0.572000			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome					273			136		0	0	0.003610	0	0
WBSCR16	81554	broad.mit.edu	37	7	74486466	74486466	+	Missense_Mutation	SNP	G	A	A	rs143969297		TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:74486466G>A	uc003ubr.3	-	1	568	c.442C>T	c.(442-444)Cgg>Tgg	p.R148W	WBSCR16_uc010lcb.1_Missense_Mutation_p.R148W	NM_030798	NP_110425	Q96I51	WBS16_HUMAN	Homo sapiens Williams-Beuren syndrome chromosome region 16 (WBSCR16), mRNA.	148										kidney(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	4						TTATCTTTCCGGCTCCTGTGA	0.458000														41			16		0	0	0.004990	0	0
FOXC2	2303	broad.mit.edu	37	16	86602381	86602381	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:86602381C>T	uc002fjq.3	+	0	1525	c.1440C>T	c.(1438-1440)ccC>ccT	p.P480P		NM_005251	NP_005242	Q99958	FOXC2_HUMAN	Homo sapiens forkhead box C2 (MFH-1, mesenchyme forkhead 1) (FOXC2), mRNA.	480					Notch signaling pathway|anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|embryonic viscerocranium morphogenesis|insulin receptor signaling pathway|lymphangiogenesis|metanephros development|negative regulation of transcription from RNA polymerase II promoter|neural crest cell fate commitment|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of cell adhesion mediated by integrin|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of vascular wound healing|regulation of blood vessel size|regulation of organ growth|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|ureteric bud development|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	DNA bending activity|chromatin DNA binding|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 factor binding|transcription regulatory region DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	15						GCCAGCTGCCCTACAGATCCA	0.652000									Late-onset Hereditary Lymphedema					24			7		0	0	0.004482	0	0
TLN1	7094	broad.mit.edu	37	9	35707805	35707805	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:35707805G>A	uc003zxt.2	-	34	4909	c.4555C>T	c.(4555-4557)Cct>Tct	p.P1519S		NM_006289	NP_006280	Q9Y490	TLN1_HUMAN	Homo sapiens talin 1 (TLN1), mRNA.	1519	Interaction with SYNM.				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)			TTGGCAGTAGGATTGGTGGTA	0.537000														119			40		0	0	0.006999	0	0
C3orf67	200844	broad.mit.edu	37	3	58870409	58870409	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:58870409C>T	uc003dkt.1	-	6	611	c.202G>A	c.(202-204)Gat>Aat	p.D68N	AK090895_uc003dku.1_Intron|C3orf67_uc003dkv.1_5'UTR|C3orf67_uc003dkw.3_5'UTR	NM_198463	NP_940865	Q6ZVT6	CC067_HUMAN	Homo sapiens chromosome 3 open reading frame 67 (C3orf67), mRNA.	68										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(3)|prostate(2)|skin(1)	19		all_cancers(2;0.000156)|all_epithelial(2;0.000493)|Breast(2;0.00446)|all_lung(2;0.074)|Lung NSC(2;0.248)		BRCA - Breast invasive adenocarcinoma(55;5.93e-06)|Kidney(10;0.00155)|KIRC - Kidney renal clear cell carcinoma(10;0.00172)|OV - Ovarian serous cystadenocarcinoma(275;0.23)		GTAGGCTCATCTGTTGAAAAG	0.368000														40			66		0	0	0.003610	0	0
MUC16	94025	broad.mit.edu	37	19	9056448	9056448	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:9056448G>A	uc002mkp.3	-	2	31202	c.30998C>T	c.(30997-30999)tCc>tTc	p.S10333F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	10335	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						GGTTGAAGAGGAGAATGGCAC	0.522000														46			29		0	0	0.008361	0	0
STK32A	202374	broad.mit.edu	37	5	146763046	146763046	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:146763046T>C	uc011dbw.1	+	11	1355	c.1075T>C	c.(1075-1077)Ttc>Ctc	p.F359L	STK32A_uc010jgn.1_Missense_Mutation_p.F359L	NM_001112724	NP_001106195	Q8WU08	ST32A_HUMAN	Homo sapiens serine/threonine kinase 32A (STK32A), transcript variant 1, mRNA.	359							ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCAGAAGGAGTTCATAATTTT	0.388000														5			6		0	0	0.003080	0	0
GFRAL	389400	broad.mit.edu	37	6	55196520	55196520	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:55196520G>A	uc003pcm.1	+	1	116	c.30G>A	c.(28-30)ggG>ggA	p.G10G		NM_207410	NP_997293	Q6UXV0	GFRAL_HUMAN	Homo sapiens GDNF family receptor alpha like (GFRAL), mRNA.	10						integral to membrane	receptor activity			NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			AAGCTATGGGGTTAAGCTTGG	0.323000														37			12		0	0	0.002450	0	0
CCDC88C	440193	broad.mit.edu	37	14	91744466	91744466	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:91744466C>T	uc010aty.3	-	28	5012	c.4858G>A	c.(4858-4860)Gcc>Acc	p.A1620T	CCDC88C_uc001xzj.3_Missense_Mutation_p.A144T|CCDC88C_uc001xzi.3_Missense_Mutation_p.A70T	NM_001080414	NP_001073883	Q9P219	DAPLE_HUMAN	Homo sapiens coiled-coil domain containing 88C (CCDC88C), mRNA.	1620					Wnt receptor signaling pathway|microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation	cytoplasm|insoluble fraction	PDZ domain binding|microtubule binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				GGTGTGCTGGCTTCCCGGGGC	0.687000														16			10		0	0	0.006214	0	0
DHTKD1	55526	broad.mit.edu	37	10	12139837	12139837	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:12139837C>T	uc001ild.4	+	7	1612	c.1513C>T	c.(1513-1515)Ctg>Ttg	p.L505L		NM_018706	NP_061176	Q96HY7	DHTK1_HUMAN	Homo sapiens dehydrogenase E1 and transketolase domain containing 1 (DHTKD1), nuclear gene encoding mitochondrial protein, mRNA.	505					glycolysis	mitochondrion	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			TGCCCTGAACCTGCAGGCCCA	0.552000														320			129		0	0	0.003610	0	0
CDH20	28316	broad.mit.edu	37	18	59158012	59158012	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr18:59158012G>A	uc010dps.1	+	0	378	c.226G>A	c.(226-228)Gac>Aac	p.D76N	CDH20_uc002lif.2_Missense_Mutation_p.D70N	NM_031891	NP_114097	Q9HBT6	CAD20_HUMAN	Homo sapiens cadherin 20, type 2 (CDH20), mRNA.	76	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				CACTGGGACCGACCCTTTGTA	0.453000														62			30		0	0	0.008361	0	0
ACSM2A	123876	broad.mit.edu	37	16	20486981	20486981	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:20486981C>T	uc010bwe.3	+	8	1223	c.984C>T	c.(982-984)ttC>ttT	p.F328F	ACSM2A_uc010vax.1_Silent_p.F249F|ACSM2A_uc002dhf.4_Silent_p.F328F|ACSM2A_uc002dhg.4_Silent_p.F328F|ACSM2A_uc010vay.2_Silent_p.F249F|ACSM2A_uc002dhh.4_5'UTR	NM_001010845	NP_001010845	Q08AH3	ACS2A_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 2A (ACSM2A), nuclear gene encoding mitochondrial protein, mRNA.	328					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						GTTACAAGTTCCCCCATCTAC	0.512000														84			32		0	0	0.002836	0	0
OR4M2	390538	broad.mit.edu	37	15	22369378	22369378	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:22369378C>T	uc010tzu.2	+	0	901	c.803C>T	c.(802-804)tCc>tTc	p.S268F	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.	268					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S268F(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)		GACTCGTTTTCCCTAGATAAA	0.423000														219			13		0	0	0.003163	0	0
CYP46A1	10858	broad.mit.edu	37	14	100187630	100187630	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:100187630G>A	uc001ygo.3	+	10	1035	c.1035G>A	c.(1033-1035)gaG>gaA	p.E345E	CYP46A1_uc001ygp.3_Silent_p.E192E	NM_006668	NP_006659	Q9Y6A2	CP46A_HUMAN	Homo sapiens cytochrome P450, family 46, subfamily A, polypeptide 1 (CYP46A1), mRNA.	345					bile acid biosynthetic process|cholesterol catabolic process|nervous system development|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol 24-hydroxylase activity|electron carrier activity|heme binding|steroid hydroxylase activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)	25		Melanoma(154;0.0866)|all_epithelial(191;0.179)				TGGATTTCGAGGACCTGGGGA	0.562000														44			20		0	0	0.001882	0	0
SUPT6H	6830	broad.mit.edu	37	17	27011718	27011718	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:27011718C>T	uc010crt.3	+	18	2536	c.2344C>T	c.(2344-2346)Ctc>Ttc	p.L782F	SUPT6H_uc002hby.3_Missense_Mutation_p.L782F	NM_003170	NP_003161	Q7KZ85	SPT6H_HUMAN	Homo sapiens suppressor of Ty 6 homolog (S. cerevisiae) (SUPT6H), mRNA.	782					chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	RNA binding|hydrolase activity, acting on ester bonds|sequence-specific DNA binding transcription factor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					CATTCGAGTCCTCGGCATTGC	0.478000														53			16		0	0	0.006122	0	0
TLN1	7094	broad.mit.edu	37	9	35705810	35705810	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:35705810G>A	uc003zxt.2	-	41	5904	c.5550C>T	c.(5548-5550)ttC>ttT	p.F1850F		NM_006289	NP_006280	Q9Y490	TLN1_HUMAN	Homo sapiens talin 1 (TLN1), mRNA.	1850	Interaction with SYNM.				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)			GGTAATCCACGAAGGAACCTT	0.557000														89			56		0	0	0.003610	0	0
GALNT12	79695	broad.mit.edu	37	9	101594134	101594134	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:101594134C>T	uc004ayz.3	+	3	812	c.812C>T	c.(811-813)tCc>tTc	p.S271F		NM_024642	NP_078918	Q8IXK2	GLT12_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 12 (GalNAc-T12) (GALNT12), mRNA.	271						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(1)|endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17		Acute lymphoblastic leukemia(62;0.0559)				CTGGGGAACTCCGGGGAGCCC	0.577000														33			11		0	0	0.001368	0	0
NAV3	89795	broad.mit.edu	37	12	78400637	78400637	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:78400637C>T	uc001syp.3	+	7	1492	c.1319C>T	c.(1318-1320)cCc>cTc	p.P440L	NAV3_uc001syo.3_Missense_Mutation_p.P440L	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	Homo sapiens neuron navigator 3 (NAV3), mRNA.	440						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						AATAGCAGTCCCAAAGTGTCA	0.428000										HNSCC(70;0.22)				80			25		0	0	0.003330	0	0
C1QTNF2	114898	broad.mit.edu	37	5	159776451	159776451	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:159776451G>A	uc003lyd.3	-	2	721	c.717C>T	c.(715-717)atC>atT	p.I239I		NM_031908	NP_114114	Q9BXJ5	C1QT2_HUMAN	Homo sapiens C1q and tumor necrosis factor related protein 2 (C1QTNF2), mRNA.	194	C1q.					collagen				breast(2)|endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(3)	13	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGAAGTAGTAGATCCCAGGCA	0.587000														36			16		0	0	0.003163	0	0
MAPK8IP1	9479	broad.mit.edu	37	11	45926794	45926795	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:45926794_45926795CC>TT	uc001nbr.3	+	10	2382_2383	c.2057_2058CC>TT	c.(2056-2058)tcc>tTT	p.S686F		NM_005456	NP_005447	Q9UQF2	JIP1_HUMAN	Homo sapiens mitogen-activated protein kinase 8 interacting protein 1 (MAPK8IP1), mRNA.	686	PID.				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)		CTGGCAGAGTCCGTGGGGTACG	0.639000														22			6		0	0	0.004672	0	0
USP29	57663	broad.mit.edu	37	19	57640539	57640539	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:57640539G>A	uc002qny.3	+	3	852	c.496G>A	c.(496-498)Ggt>Agt	p.G166S	USP29_uc021vci.1_Missense_Mutation_p.G166S	NM_020903	NP_065954	Q9HBJ7	UBP29_HUMAN	Homo sapiens ubiquitin specific peptidase 29 (USP29), mRNA.	166					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	p.Q165*(1)|p.G166A(1)		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)		AGAAAATCAAGGTGGGAAGGG	0.363000														67			34		0	0	0.002836	0	0
UBR2	23304	broad.mit.edu	37	6	42613322	42613322	+	Silent	SNP	T	G	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:42613322T>G	uc011dur.2	+	20	2701	c.2403T>G	c.(2401-2403)ccT>ccG	p.P801P	UBR2_uc011dus.2_Silent_p.P446P|UBR2_uc003osh.3_Non-coding_Transcript	NM_015255	NP_056070	Q8IWV8	UBR2_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 2 (UBR2), transcript variant 1, mRNA.	801					cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			AGTCTTTACCTGAAGATGTAA	0.363000														64			28		0	0	0.008361	0	0
C19orf63	284361	broad.mit.edu	37	19	50983406	50983406	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:50983406C>T	uc002psl.3	+	3	402	c.336C>T	c.(334-336)atC>atT	p.I112I	C19orf63_uc021uyd.1_Non-coding_Transcript|C19orf63_uc002psk.3_Silent_p.I112I	NM_206538	NP_996261	Q5UCC4	INM02_HUMAN	Homo sapiens chromosome 19 open reading frame 63 (C19orf63), transcript variant HSM1, mRNA.	112						extracellular region|integral to membrane				breast(1)|lung(1)	2		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00733)|GBM - Glioblastoma multiforme(134;0.0252)		GGGTCCGGATCCCAAGGCGAC	0.637000														22			5		0	0	0.000602	0	0
ATP10D	57205	broad.mit.edu	37	4	47538793	47538793	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:47538793G>A	uc003gxk.1	+	8	1398	c.1234G>A	c.(1234-1236)Gaa>Aaa	p.E412K	ATP10D_uc003gxl.1_5'UTR|ATP10D_uc003gxj.3_Missense_Mutation_p.E397K	NM_020453	NP_065186	Q9P241	AT10D_HUMAN	Homo sapiens ATPase, class V, type 10D (ATP10D), mRNA.	412					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						TTTCTACAATGAAAAAATGGA	0.398000														39			9		0	0	0.004482	0	0
ATP1A2	477	broad.mit.edu	37	1	160093166	160093166	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:160093166G>A	uc001fvc.3	+	3	473	c.341G>A	c.(340-342)gGc>gAc	p.G114D	ATP1A2_uc001fvb.2_Missense_Mutation_p.G114D|ATP1A2_uc010piz.1_5'Flank	NM_000702	NP_000693	P50993	AT1A2_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 2 polypeptide (ATP1A2), mRNA.	114					ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	p.Y113Y(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			CTGGCCTACGGCATCCAGGCT	0.612000														82			39		0	0	0.002852	0	0
HYDIN	54768	broad.mit.edu	37	GL000192.1	148109	148109	+	RNA	SNP	T	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chrGL000192.1:148109T>A	uc010yih.1	-	12		c.2576A>T						Q4G0P3	HYDIN_HUMAN	Homo sapiens mRNA for KIAA1864 protein, partial cds.											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)				TTCTTTCATTTTCTGTTTGCC	0.433000														38			20		0	0	0.003954	0	0
ROBO4	54538	broad.mit.edu	37	11	124765494	124765494	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:124765494C>T	uc001qbg.3	-	5	1035	c.895G>A	c.(895-897)Gag>Aag	p.E299K	ROBO4_uc010sas.2_Missense_Mutation_p.E154K|ROBO4_uc001qbh.2_Missense_Mutation_p.E189K|ROBO4_uc001qbi.3_5'Flank|ROBO4_uc010sat.1_5'Flank	NM_019055	NP_061928	Q8WZ75	ROBO4_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 4 (Drosophila) (ROBO4), mRNA.	299	Fibronectin type-III 1.				angiogenesis|cell differentiation	integral to membrane	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		AGCAGCTCCTCTGCCCACGGA	0.657000														53			29		0	0	0.002445	0	0
PTPN14	5784	broad.mit.edu	37	1	214557016	214557016	+	Missense_Mutation	SNP	G	A	A	rs143375730	by1000genomes	TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:214557016G>A	uc001hkk.2	-	12	2835	c.2182C>T	c.(2182-2184)Cgg>Tgg	p.R728W	PTPN14_uc021piy.1_Missense_Mutation_p.R492W|PTPN14_uc010pty.2_Missense_Mutation_p.R629W	NM_005401	NP_005392	Q15678	PTN14_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 14 (PTPN14), mRNA.	728					lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding			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)		ATCTTCTCCCGGAGCATGGGG	0.612000														29			16		0	0	0.004007	0	0
TTN	7273	broad.mit.edu	37	2	179457531	179457531	+	Missense_Mutation	SNP	G	A	A	rs72646840	by1000genomes	TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:179457531G>A	uc021vsy.1	-	248	51836	c.51611C>T	c.(51610-51612)cCg>cTg	p.P17204L	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.P10899L|TTN_uc021vta.1_Missense_Mutation_p.P10832L|TTN_uc021vtb.1_Missense_Mutation_p.P10707L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	18131	Fibronectin type-III 24.						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)			GACTGGCTCCGGAACATGAGC	0.408000														89			36		0	0	0.006230	0	0
TMC8	147138	broad.mit.edu	37	17	76128889	76128889	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:76128889C>T	uc002jup.2	+	4	851	c.469C>T	c.(469-471)Cgc>Tgc	p.R157C	TMC6_uc002jul.1_5'Flank|TMC8_uc002juq.2_5'UTR|TMC8_uc010wtr.1_5'Flank	NM_152468	NP_689681	Q8IU68	TMC8_HUMAN	Homo sapiens transmembrane channel-like 8 (TMC8), mRNA.	157						endoplasmic reticulum membrane|integral to membrane				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.192)			CCCTGGTAGCCGCCAGTCCCC	0.587000														57			19		0	0	0.003954	0	0
UNC93A	54346	broad.mit.edu	37	6	167709555	167709555	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:167709555T>C	uc003qvq.3	+	2	480	c.305T>C	c.(304-306)cTc>cCc	p.L102P	UNC93A_uc003qvr.3_Missense_Mutation_p.L102P	NM_018974	NP_061847	Q86WB7	UN93A_HUMAN	Homo sapiens unc-93 homolog A (C. elegans) (UNC93A), transcript variant 1, mRNA.	102						integral to membrane|plasma membrane				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	40		Breast(66;7.62e-05)|Ovarian(120;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		CTGCTGGGACTCGGGGCCGCC	0.567000														26			11		0	0	0.001368	0	0
FOXN3	1112	broad.mit.edu	37	14	89629013	89629013	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:89629013C>T	uc001xxo.4	-	6	1355	c.1218G>A	c.(1216-1218)aaG>aaA	p.K406K	FOXN3_uc001xxn.4_Silent_p.K384K|FOXN3_uc010atk.3_Silent_p.K384K	NM_001085471	NP_001078940	O00409	FOXN3_HUMAN	Homo sapiens forkhead box N3 (FOXN3), transcript variant 1, mRNA.	406					DNA damage checkpoint|G2 phase of mitotic cell cycle|embryo development|negative regulation of transcription, DNA-dependent|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein C-terminus binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	p.K406N(1)|p.K384N(1)		endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CCAGAGAATCCTTGGGCTCCT	0.647000														32			24		0	0	0.007291	0	0
RBM19	9904	broad.mit.edu	37	12	114395759	114395759	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:114395759G>A	uc009zwi.2	-	5	812	c.668C>T	c.(667-669)tCc>tTc	p.S223F	RBM19_uc001tvn.4_Missense_Mutation_p.S223F|RBM19_uc001tvm.3_Missense_Mutation_p.S223F	NM_001146699	NP_057280	Q9Y4C8	RBM19_HUMAN	Homo sapiens RNA binding motif protein 19 (RBM19), transcript variant 1, mRNA.	223					multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	RNA binding|nucleotide binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					TTCCTCCGAGGAAGAGGACGA	0.557000														58			33		0	0	0.002836	0	0
KRT79	338785	broad.mit.edu	37	12	53216910	53216910	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:53216910C>T	uc001sbb.3	-	6	1290	c.1257G>A	c.(1255-1257)aaG>aaA	p.K419K	KRT79_uc001sba.3_Silent_p.K190K	NM_175834	NP_787028	Q5XKE5	K2C79_HUMAN	Homo sapiens keratin 79 (KRT79), mRNA.	419	Coil 2.|Rod.					keratin filament	structural molecule activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TCAGGTCCTCCTTGGCCTGGT	0.612000														20			13		0	0	0.001855	0	0
EDARADD	128178	broad.mit.edu	37	1	236631531	236631531	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:236631531G>A	uc001hxu.1	+	5	285	c.220_splice	c.e5-1	p.G74_splice	EDARADD_uc001hxv.1_Splice_Site_p.G64_splice	NM_145861	NP_665860	Q8WWZ3	EDAD_HUMAN	Homo sapiens EDAR-associated death domain (EDARADD), transcript variant A, mRNA.	74					cell differentiation|signal transduction	cytoplasm				endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|stomach(1)	12	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.0232)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			TGGTTTTTAGGGAGAAGAAAA	0.368000														133			54		0	0	0.003610	0	0
GIMAP1-GIMAP5	100527949	broad.mit.edu	37	7	150417759	150417759	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:150417759G>A	uc003whq.3	+	2	807	c.667G>A	c.(667-669)Gag>Aag	p.E223K	GIMAP1-GIMAP5_uc022apw.1_Intron	NM_130759	NP_570115			Homo sapiens GTPase, IMAP family member 1 (GIMAP1), mRNA.																		TTACTCCAACGAGGTGTATGA	0.701000														4			7		0	0	0.003080	0	0
PPL	5493	broad.mit.edu	37	16	4934161	4934162	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:4934161_4934162CC>TT	uc002cyd.1	-	21	4584_4585	c.4494_4495GG>AA	c.(4492-4497)aaggtg>aaAAtg	p.V1499M		NM_002705	NP_002696	O60437	PEPL_HUMAN	Homo sapiens periplakin (PPL), mRNA.	1499					keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						GAGAGCACCACCTTCTCCTTGA	0.639000														45			15		0	0	0.004672	0	0
OVCH2	341277	broad.mit.edu	37	11	7726135	7726135	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:7726135C>T	uc010rbf.2	-	1	175	c.175G>A	c.(175-177)Gag>Aag	p.E59K		NM_198185	NP_937828			Homo sapiens ovochymase 2 (gene/pseudogene) (OVCH2), mRNA.											cervix(1)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(2)	15				Epithelial(150;7.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.197)		GAACCCTTCTCCACTTGGCTT	0.408000														14			12		0	0	0.001855	0	0
SYNPO2L	79933	broad.mit.edu	37	10	75406540	75406540	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:75406540C>T	uc001jut.4	-	3	3022	c.2870G>A	c.(2869-2871)cGa>cAa	p.R957Q	SYNPO2L_uc001jus.4_Missense_Mutation_p.R733Q	NM_001114133	NP_001107605	Q9H987	SYP2L_HUMAN	Homo sapiens synaptopodin 2-like (SYNPO2L), transcript variant 1, mRNA.	957						cytoplasm|cytoskeleton	actin binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Prostate(51;0.0112)					GGCTGAAAATCGGGGCCTGGC	0.642000														73			23		0	0	0.003330	0	0
ASUN	55726	broad.mit.edu	37	12	27089526	27089526	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:27089526G>A	uc001rhk.4	-	1	748	c.211C>T	c.(211-213)Cct>Tct	p.P71S	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.	71					cell division|mitosis|regulation of mitotic cell cycle		protein binding										TTTTTGAAAGGAAATATATCA	0.323000														14			9		0	0	0.006214	0	0
IDS	3423	broad.mit.edu	37	X	148579655	148579655	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chrX:148579655G>A	uc011mxe.2	-	4	908	c.691C>T	c.(691-693)Ccc>Tcc	p.P231S	IDS_uc011mxf.2_Missense_Mutation_p.P141S|IDS_uc011mxg.2_Missense_Mutation_p.P20S|IDS_uc010nsu.2_Intron|IDS_uc004fcw.4_Missense_Mutation_p.P20S|IDS_uc011mxh.2_Missense_Mutation_p.P231S|IDS_uc011mxi.2_Non-coding_Transcript	NM_000202	NP_000193	P22304	IDS_HUMAN	Homo sapiens iduronate 2-sulfatase (IDS), transcript variant 1, mRNA.	231			P -> L (in MPS2; mild form).			lysosome	iduronate-2-sulfatase activity|metal ion binding			NS(1)|breast(3)|endometrium(5)|large_intestine(2)|lung(8)|prostate(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					TATCTGAAGGGGATGTGTGGC	0.507000														80			22		0	0	0.003954	0	0
OR52E8	390079	broad.mit.edu	37	11	5878411	5878411	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:5878411G>A	uc010qzr.2	-	0	522	c.522C>T	c.(520-522)ttC>ttT	p.F174F	TRIM5_uc001mbq.1_Intron	NM_001005168	NP_001005168	Q6IFG1	O52E8_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily E, member 8 (OR52E8), mRNA.	174					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114)		Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GATGCCCACAGAAGGGCAGCC	0.517000														78			42		0	0	0.002852	0	0
GALNT6	11226	broad.mit.edu	37	12	51754508	51754508	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:51754508G>A	uc001ryk.2	-	5	1389	c.1164C>T	c.(1162-1164)ttC>ttT	p.F388F	GALNT6_uc009zma.1_Intron|GALNT6_uc001ryl.1_Silent_p.F388F|GALNT6_uc001ryj.1_5'Flank	NM_007210	NP_009141	Q8NCL4	GALT6_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6) (GALNT6), mRNA.	388	Catalytic subdomain B.				protein O-linked glycosylation	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						CTCTCACCCGGAAGGACATTT	0.537000														50			16		0	0	0.008871	0	0
YIPF3	25844	broad.mit.edu	37	6	43480049	43480049	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:43480049G>A	uc003ovl.2	-	8	1092	c.909C>T	c.(907-909)atC>atT	p.I303I	LRRC73_uc003ovk.1_5'Flank|YIPF3_uc011dvk.2_Silent_p.I268I	NM_015388	NP_056203	Q9GZM5	YIPF3_HUMAN	Homo sapiens Yip1 domain family, member 3 (YIPF3), mRNA.	303					cell differentiation	integral to membrane|plasma membrane|transport vesicle		p.G302G(1)		large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)	9	all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00736)|OV - Ovarian serous cystadenocarcinoma(102;0.0711)			GTGTGTCCAGGATCCCTGGAA	0.602000														52			16		0	0	0.008871	0	0
FBLN1	2192	broad.mit.edu	37	22	45958907	45958907	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr22:45958907C>T	uc010gzz.3	+	15	2074	c.1927C>T	c.(1927-1929)Cgc>Tgc	p.R643C	FBLN1_uc003bgh.3_Missense_Mutation_p.R605C|FBLN1_uc003bgi.1_Intron|FBLN1_uc003bgj.1_Intron	NM_001996	NP_001987	P23142	FBLN1_HUMAN	Homo sapiens fibulin 1 (FBLN1), transcript variant C, mRNA.	618					interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		GGTGGTTTTCCGCATGGGCCC	0.617000														74			37		0	0	0.003755	0	0
abParts	0	broad.mit.edu	37	14	106774206	106774206	+	RNA	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:106774206G>A	uc021ser.1	-	683		c.18604C>T								Parts of antibodies, mostly variable regions.																		TGTTGGTGTTGATCCATCCCA	0.507000														11			5		0	0	0.000602	0	0
MYOM3	127294	broad.mit.edu	37	1	24406673	24406673	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:24406673C>T	uc001bin.4	-	19	2582	c.2419G>A	c.(2419-2421)Gat>Aat	p.D807N	MYOM3_uc001bim.4_Missense_Mutation_p.D464N|MYOM3_uc001bio.3_Missense_Mutation_p.D807N	NM_152372	NP_689585	Q5VTT5	MYOM3_HUMAN	Homo sapiens myomesin family, member 3 (MYOM3), mRNA.	807	Fibronectin type-III 5.									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)		GCCCGTACATCGTACGGGGGG	0.602000														21			9		0	0	0.004482	0	0
FAM75A3	727830	broad.mit.edu	37	9	40705656	40705656	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:40705656C>T	uc010mmj.3	+	3	3342	c.3313C>T	c.(3313-3315)Ccc>Tcc	p.P1105S		NM_001083124	NP_001076593	Q5VYP0	F75A3_HUMAN	Homo sapiens family with sequence similarity 75, member A3 (FAM75A3), mRNA.	1105						integral to membrane				kidney(1)|large_intestine(2)|lung(18)|ovary(3)|prostate(1)|skin(1)	26				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		GCCAATGTTTCCCCCTATTCA	0.483000														333			113		0	0	0.003610	0	0
KCNF1	3754	broad.mit.edu	37	2	11053984	11053984	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:11053984C>T	uc002rax.3	+	0	1922	c.1432C>T	c.(1432-1434)Ccc>Tcc	p.P478S		NM_002236	NP_002227	Q9H3M0	KCNF1_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily F, member 1 (KCNF1), mRNA.	478						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(2)|skin(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)		CACCTTCATCCCCCTCCTGAC	0.662000														19			9		0	0	0.006214	0	0
CALCRL	10203	broad.mit.edu	37	2	188216918	188216918	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:188216918G>A	uc010frt.3	-	11	1434	c.1051C>T	c.(1051-1053)Ctg>Ttg	p.L351L	CALCRL_uc002upv.4_Silent_p.L351L	NM_005795	NP_005786	Q16602	CALRL_HUMAN	Homo sapiens calcitonin receptor-like (CALCRL), mRNA.	351						integral to plasma membrane				endometrium(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227)			CATGGAATCAGCACAAATTCA	0.433000														45			8		0	0	0.003080	0	0
FMN1	342184	broad.mit.edu	37	15	33261033	33261033	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:33261033G>A	uc001zhf.4	-	3	2200	c.2200C>T	c.(2200-2202)Cct>Tct	p.P734S	SNORD77_uc021sip.1_5'Flank	NM_001103184	NP_001096654	Q68DA7	FMN1_HUMAN	Homo sapiens formin 1 (FMN1), mRNA.	957	Mediates interaction with alpha-catenin (By similarity).				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding	p.P734S(2)|p.P957S(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		AAGAGTCCAGGGGGAGGTGGG	0.597000														44			10		0	0	0.008291	0	0
ADARB2	105	broad.mit.edu	37	10	1405873	1405874	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:1405873_1405874GG>AA	uc009xhq.3	-	2	752_753	c.426_427CC>TT	c.(424-429)taccgg>taTTgg	p.R143W		NM_018702	NP_061172	Q9NS39	RED2_HUMAN	Homo sapiens adenosine deaminase, RNA-specific, B2 (ADARB2), mRNA.	143	DRBM 1.				mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		GACACTGTCCGGTACTGCAGGC	0.653000														15			17		0	0	0.004672	0	0
SLC6A14	11254	broad.mit.edu	37	X	115586147	115586147	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chrX:115586147G>A	uc004eqi.3	+	10	1540	c.1409G>A	c.(1408-1410)gGa>gAa	p.G470E		NM_007231	NP_009162	Q9UN76	S6A14_HUMAN	Homo sapiens solute carrier family 6 (amino acid transporter), member 14 (SLC6A14), mRNA.	470					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)	TGGTAGGCTGGAATTTACTGG	0.318000														38			33		0	0	0.004878	0	0
BRIP1	83990	broad.mit.edu	37	17	59857760	59857760	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:59857760G>A	uc002izk.2	-	12	2103	c.1797C>T	c.(1795-1797)gcC>gcT	p.A599A	BRIP1_uc002izl.1_5'UTR	NM_032043	NP_114432	Q9BX63	FANCJ_HUMAN	Homo sapiens BRCA1 interacting protein C-terminal helicase 1 (BRIP1), mRNA.	599					DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						TATCTGAAAAGGCCTAAAAGA	0.373000			"""F, N, Mis"""			"""AML, leukemia, breast"""		Involved in tolerance or repair of DNA crosslinks						68			45		0	0	0.003610	0	0
TPTE	7179	broad.mit.edu	37	21	10951345	10951345	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr21:10951345G>A	uc002yip.1	-	9	735	c.367C>T	c.(367-369)Cct>Tct	p.P123S	TPTE_uc002yis.1_Non-coding_Transcript|TPTE_uc002yiq.1_Missense_Mutation_p.P105S|TPTE_uc002yir.1_Missense_Mutation_p.P85S|TPTE_uc010gkv.1_5'UTR	NM_199261	NP_954870	P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA.	123					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.M121_D122>IY(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)		TACTCCAAAGGAATATAAAGT	0.323000														119			21		0	0	0.001523	0	0
FMO3	2328	broad.mit.edu	37	1	171083441	171083441	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:171083441C>T	uc001ghi.3	+	6	1233	c.1122C>T	c.(1120-1122)tcC>tcT	p.S374S	FMO3_uc001ghh.3_Silent_p.S374S|FMO3_uc010pmb.2_Silent_p.S354S|FMO3_uc010pmc.2_Silent_p.S311S	NM_001002294	NP_008825	P31513	FMO3_HUMAN	Homo sapiens flavin containing monooxygenase 3 (FMO3), transcript variant 2, mRNA.	374					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TTGTCCAGTCCCTTGGGGCTG	0.438000														29			18		0	0	0.002299	0	0
OR2M2	391194	broad.mit.edu	37	1	248343914	248343914	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:248343914C>T	uc010pzf.2	+	0	627	c.627C>T	c.(625-627)ttC>ttT	p.F209F		NM_001004688	NP_001004688	Q96R28	OR2M2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 2 (OR2M2), mRNA.	209					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TGCTTGTTTTCCCTGTTGCAA	0.418000														153			37		0	0	0.007835	0	0
ERC2	26059	broad.mit.edu	37	3	56330372	56330372	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:56330372C>T	uc021wzo.1	-	1	889	c.749G>A	c.(748-750)gGa>gAa	p.G250E	ERC2_uc003dhr.1_Missense_Mutation_p.G250E	NM_015576	NP_056391	O15083	ERC2_HUMAN	Homo sapiens ELKS/RAB6-interacting/CAST family member 2 (ERC2), mRNA.	250						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		GTGCTCCGCTCCTCGGTTGCC	0.557000														45			96		0	0	0.003610	0	0
RGPD4	285190	broad.mit.edu	37	2	108475875	108475875	+	Nonsense_Mutation	SNP	T	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:108475875T>A	uc010ywk.2	+	10	1581	c.1499T>A	c.(1498-1500)tTa>tAa	p.L500*	RGPD4_uc002tdu.3_5'UTR|RGPD4_uc010ywl.2_Non-coding_Transcript	NM_182588	NP_872394	Q7Z3J3	RGPD4_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 4 (RGPD4), mRNA.	500					intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						CACTTACAATTAAAGGAGAAA	0.338000														118			28		0	0	0.008740	0	0
UROC1	131669	broad.mit.edu	37	3	126218907	126218907	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:126218907C>T	uc010hsi.2	-	12	1470	c.1416G>A	c.(1414-1416)caG>caA	p.Q472Q	UROC1_uc003eiz.2_Silent_p.Q412Q	NM_001165974	NP_001159446	Q96N76	HUTU_HUMAN	Homo sapiens urocanase domain containing 1 (UROC1), transcript variant 2, mRNA.	412					histidine catabolic process	cytosol	urocanate hydratase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		tACCTGCTCTCTGGGCCTCCA	0.627000														33			17		0	0	0.007413	0	0
ANP32D	23519	broad.mit.edu	37	12	48866508	48866508	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:48866508G>A	uc010slt.2	+	0	61	c.61G>A	c.(61-63)Gaa>Aaa	p.E21K		NM_012404	NP_036536	O95626	AN32D_HUMAN	Homo sapiens acidic (leucine-rich) nuclear phosphoprotein 32 family, member D (ANP32D), mRNA.	21										central_nervous_system(1)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	9						CGATGTGAAAGAACTTTTCCT	0.458000														113			47		0	0	0.003214	0	0
SLC26A9	115019	broad.mit.edu	37	1	205892544	205892544	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:205892544G>A	uc001hdp.3	-	14	1692	c.1578C>T	c.(1576-1578)atC>atT	p.I526I	SLC26A9_uc001hdo.3_Silent_p.I194I|SLC26A9_uc001hdq.3_Silent_p.I526I	NM_134325	NP_599152	Q7LBE3	S26A9_HUMAN	Homo sapiens solute carrier family 26, member 9 (SLC26A9), transcript variant 2, mRNA.	526	STAS.					integral to membrane	chloride channel activity|secondary active sulfate transmembrane transporter activity			NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			TAATCCCCTGGATATCCTGGG	0.488000														52			17		0	0	0.004990	0	0
PCDH18	54510	broad.mit.edu	37	4	138451129	138451129	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:138451129G>A	uc003ihe.4	-	0	2501	c.2114C>T	c.(2113-2115)tCc>tTc	p.S705F	PCDH18_uc003ihf.4_Missense_Mutation_p.S698F|PCDH18_uc011cgz.2_Intron|PCDH18_uc003ihg.4_Missense_Mutation_p.S485F|PCDH18_uc011cha.2_Intron	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	Homo sapiens protocadherin 18 (PCDH18), mRNA.	705					brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.S705F(2)		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)					TGCTCCTAAGGAAATAATTAT	0.423000														82			18		0	0	0.007413	0	0
ELMOD1	55531	broad.mit.edu	37	11	107535844	107535844	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:107535844G>A	uc010rvs.2	+	11	1330	c.926G>A	c.(925-927)aGg>aAg	p.R309K	ELMOD1_uc001pjm.3_Missense_Mutation_p.R301K|ELMOD1_uc010rvt.2_Missense_Mutation_p.R303K	NM_018712	NP_061182	Q8N336	ELMD1_HUMAN	Homo sapiens ELMO/CED-12 domain containing 1 (ELMOD1), transcript variant 1, mRNA.	309	ELMO.				phagocytosis	cytoskeleton	GTPase activator activity			endometrium(2)|large_intestine(5)|liver(2)|lung(7)|pancreas(2)|prostate(1)	19		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00304)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Epithelial(105;0.00027)|all cancers(92;0.00481)		TTCCGCAAGAGGATCATCAAA	0.458000														108			50		0	0	0.003610	0	0
LGSN	51557	broad.mit.edu	37	6	63990070	63990070	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:63990070G>A	uc003peh.3	-	3	1420	c.1386C>T	c.(1384-1386)gcC>gcT	p.A462A	LGSN_uc003pei.3_3'UTR	NM_016571	NP_057655	Q5TDP6	LGSN_HUMAN	Homo sapiens lengsin, lens protein with glutamine synthetase domain (LGSN), transcript variant 1, mRNA.	462					glutamine biosynthetic process		glutamate-ammonia ligase activity			NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34					L-Glutamic Acid(DB00142)	GTGCCACAAGGGCATCTTCTA	0.428000														43			22		0	0	0.002299	0	0
RAP2B	5912	broad.mit.edu	37	3	152880782	152880782	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:152880782C>T	uc003ezr.3	+	0	754	c.300C>T	c.(298-300)atC>atT	p.I100I		NM_002886	NP_002877	P61225	RAP2B_HUMAN	Homo sapiens RAP2B, member of RAS oncogene family (RAP2B), mRNA.	100					Rap protein signal transduction|regulation of protein tyrosine kinase activity	recycling endosome membrane	GTP binding|GTPase activity			NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	7			LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)			GGGACCAGATCATCCGCGTGA	0.627000														46			16		0	0	0.007413	0	0
KRT6C	286887	broad.mit.edu	37	12	52864383	52864383	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:52864383T>G	uc001sal.4	-	5	1157	c.1109A>C	c.(1108-1110)cAt>cCt	p.H370P		NM_173086	NP_775109	P48668	K2C6C_HUMAN	Homo sapiens keratin 6C (KRT6C), mRNA.	370	Coil 2.|Rod.				cytoskeleton organization	keratin filament	structural molecule activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2)	23				BRCA - Breast invasive adenocarcinoma(357;0.0828)		GTCGTCCCCATGTCTGCCTGC	0.552000														36			16		0	0	0.003954	0	0
NLRP13	126204	broad.mit.edu	37	19	56413448	56413448	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:56413448G>A	uc010ygg.2	-	8	2767	c.2742C>T	c.(2740-2742)ttC>ttT	p.F914F		NM_176810	NP_789780	Q86W25	NAL13_HUMAN	Homo sapiens NLR family, pyrin domain containing 13 (NLRP13), mRNA.	914							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)		CCTCACACAGGAACTTGACTC	0.547000														46			15		0	0	0.002450	0	0
PSG3	5671	broad.mit.edu	37	19	43372369	43372369	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:43372369C>T	uc002ovd.1	-	4	1265	c.1127G>A	c.(1126-1128)gGa>gAa	p.G376E	PSG3_uc002ouf.3_Intron|PSG3_uc002oug.1_Intron|PSG3_uc002oun.3_Intron|PSG3_uc002ovc.3_Missense_Mutation_p.G283E|PSG3_uc002ova.2_Missense_Mutation_p.G283E|PSG3_uc002ouz.2_Missense_Mutation_p.G376E|PSG3_uc002ovb.3_Missense_Mutation_p.G376E	NM_006905	NP_008836	Q16557	PSG3_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 1 (PSG1), transcript variant 1, mRNA.	376	Ig-like C2-type 3.			Missing (in Ref. 9).	defense response|female pregnancy	extracellular region		p.G376E(2)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				GAGCTTTTGTCCTGGTAGCTG	0.453000														135			50		0	0	0.003610	0	0
PLXND1	23129	broad.mit.edu	37	3	129290066	129290066	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:129290066G>A	uc003emx.2	-	17	3517	c.3417C>T	c.(3415-3417)ttC>ttT	p.F1139F		NM_015103	NP_055918	Q9Y4D7	PLXD1_HUMAN	Homo sapiens plexin D1 (PLXND1), mRNA.	1139	IPT/TIG 3.				axon guidance	integral to membrane|intracellular|plasma membrane			PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						CATTGATGAAGAAGTCCACTG	0.657000														31			22		0	0	0.001882	0	0
ZNF554	115196	broad.mit.edu	37	19	2834269	2834269	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:2834269C>T	uc002lwm.2	+	4	1234	c.1036C>T	c.(1036-1038)Cac>Tac	p.H346Y	ZNF554_uc002lwl.2_Missense_Mutation_p.H295Y	NM_001102651	NP_001096121	Q86TJ5	ZN554_HUMAN	Homo sapiens zinc finger protein 554 (ZNF554), mRNA.	346					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	23		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)		TCAAAGAATTCACACGGGGGA	0.527000														38			14		0	0	0.003163	0	0
NPEPL1	79716	broad.mit.edu	37	20	57287539	57287539	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr20:57287539T>C	uc010zzs.1	+	7	1000	c.905T>C	c.(904-906)tTc>tCc	p.F302S	NPEPL1_uc010zzr.2_Missense_Mutation_p.F254S|NPEPL1_uc010gjo.2_Missense_Mutation_p.F274S|NPEPL1_uc002xzp.3_Missense_Mutation_p.F190S	NM_024663	NP_078939	Q8NDH3	PEPL1_HUMAN	Homo sapiens aminopeptidase-like 1 (NPEPL1), transcript variant 1, mRNA.	302					proteolysis	cytoplasm	aminopeptidase activity|manganese ion binding|metalloexopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)	14	all_lung(29;0.0175)		BRCA - Breast invasive adenocarcinoma(13;2.88e-09)|Colorectal(105;0.109)			CTCCAGGGTTTCAAAGACAAC	0.582000														50			29		0	0	0.008361	0	0
OR1J2	26740	broad.mit.edu	37	9	125273939	125273939	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:125273939C>T	uc011lyv.2	+	0	859	c.859C>T	c.(859-861)Ccc>Tcc	p.P287S	OR1J2_uc004bmj.2_Missense_Mutation_p.P287S	NM_054107	NP_473448	Q8NGS2	OR1J2_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily J, member 2 (OR1J2), mRNA.	287					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(7)|stomach(1)	26						CATGTTGAACCCCTTTATCTA	0.438000														70			27		0	0	0.006320	0	0
THOC2	57187	broad.mit.edu	37	X	122756988	122756988	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chrX:122756988G>A	uc004etu.3	-	28	3682	c.3650C>T	c.(3649-3651)tCt>tTt	p.S1217F	THOC2_uc010nqt.1_5'Flank|THOC2_uc004etw.1_Missense_Mutation_p.S38F	NM_001081550	NP_001075019	Q8NI27	THOC2_HUMAN	Homo sapiens THO complex 2 (THOC2), mRNA.	1217					RNA splicing|intronless viral mRNA export from host nucleus|mRNA processing	THO complex part of transcription export complex	RNA binding|protein binding			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						ATCCGATTTAGATGCACTTCC	0.398000														20			36		0	0	0.003271	0	0
PRDM16	63976	broad.mit.edu	37	1	3350266	3350266	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:3350266C>T	uc001akf.3	+	16	3804	c.3722C>T	c.(3721-3723)tCc>tTc	p.S1241F	PRDM16_uc001ake.3_Intron|PRDM16_uc009vlh.3_Missense_Mutation_p.S941F|PRDM16_uc001akc.3_Intron	NM_022114	NP_071397	Q9HAZ2	PRD16_HUMAN	Homo sapiens PR domain containing 16 (PRDM16), transcript variant 1, mRNA.	1241	Mediates interaction with SKI and regulation of TGF-beta signaling.				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		CTGTCCCTTTCCGAAGACACT	0.617000			T	EVI1	"""MDS, AML"""									52			42		0	0	0.003610	0	0
LZTFL1	54585	broad.mit.edu	37	3	45877241	45877241	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:45877241G>A	uc003cox.1	-	2	302	c.164C>T	c.(163-165)tCt>tTt	p.S55F	LZTFL1_uc003coy.1_Missense_Mutation_p.S38F|LZTFL1_uc011bak.1_Non-coding_Transcript	NM_020347	NP_065080	Q9NQ48	LZTL1_HUMAN	Homo sapiens leucine zipper transcription factor-like 1 (LZTFL1), mRNA.	55										endometrium(1)|large_intestine(2)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	8				BRCA - Breast invasive adenocarcinoma(193;0.00867)|KIRC - Kidney renal clear cell carcinoma(197;0.0177)|Kidney(197;0.0208)		GAGGACTTCAGAGACTTCATC	0.403000														21			44		0	0	0.003610	0	0
ANKRD5	63926	broad.mit.edu	37	20	10030800	10030800	+	Missense_Mutation	SNP	C	T	T	rs145395317		TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr20:10030800C>T	uc002wno.3	+	6	1976	c.1583C>T	c.(1582-1584)cCg>cTg	p.P528L	LOC100131208_uc002wnn.2_Intron|ANKRD5_uc002wnp.3_Missense_Mutation_p.P528L|ANKRD5_uc010gbz.3_Missense_Mutation_p.P339L	NM_022096	NP_942093	Q9NU02	ANKR5_HUMAN	Homo sapiens ankyrin repeat domain 5 (ANKRD5), transcript variant 1, mRNA.	528							calcium ion binding			breast(2)|endometrium(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	37						TACAAAACTCCGCTAATGACG	0.423000														32			20		0	0	0.002780	0	0
OR51A2	401667	broad.mit.edu	37	11	4976459	4976459	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:4976459G>A	uc010qyt.2	-	0	485	c.485C>T	c.(484-486)cCt>cTt	p.P162L		NM_001004748	NP_001004748	Q8NGJ7	O51A2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily A, member 2 (OR51A2), mRNA.	162					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P162H(2)		endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		TAAAGTGAAAGGGAAGGGAAG	0.433000														195			34		0	0	0.004878	0	0
DNAJC10	54431	broad.mit.edu	37	2	183593635	183593635	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:183593635G>A	uc002uow.1	+	6	962	c.547G>A	c.(547-549)Gct>Act	p.A183T	DNAJC10_uc002uox.1_Non-coding_Transcript|DNAJC10_uc002uoy.1_Non-coding_Transcript|DNAJC10_uc002uoz.1_Missense_Mutation_p.A183T|DNAJC10_uc010fro.1_Non-coding_Transcript	NM_018981	NP_061854	Q8IXB1	DJC10_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 10 (DNAJC10), mRNA.	183	Thioredoxin 1.				ER-associated protein catabolic process|apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|glycerol ether metabolic process|negative regulation of protein phosphorylation|protein folding|response to endoplasmic reticulum stress	endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|extracellular region	ATPase activator activity|ATPase binding|chaperone binding|electron carrier activity|heat shock protein binding|misfolded protein binding|protein disulfide oxidoreductase activity|unfolded protein binding			breast(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(15)|ovary(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			TCGAATTGGAGCTGTTAACTG	0.403000														63			32		0	0	0.002836	0	0
ROCK2	9475	broad.mit.edu	37	2	11332715	11332715	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:11332715G>A	uc002rbd.1	-	30	4260	c.3811C>T	c.(3811-3813)Cca>Tca	p.P1271S		NM_004850	NP_004841	O75116	ROCK2_HUMAN	Homo sapiens Rho-associated, coiled-coil containing protein kinase 2 (ROCK2), mRNA.	1271	PH.				axon guidance|cytokinesis|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		CAGTTGGTTGGGAAATGATAA	0.423000														24			12		0	0	0.000978	0	0
UGT2B10	7365	broad.mit.edu	37	4	69884041	69884041	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:69884041C>T	uc011cao.1	-	3	777	c.651G>A	c.(649-651)tgG>tgA	p.W217*	UGT2B10_uc011can.1_Nonsense_Mutation_p.W133*			P36537	UDB10_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B10 (UGT2B10), transcript variant 1, mRNA.	261					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						ATTTAAAATTCCAGGAGTTTC	0.393000														98			55		0	0	0.003610	0	0
ROPN1L	83853	broad.mit.edu	37	5	10461368	10461368	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:10461368C>T	uc021xwo.1	+	4	673	c.490C>T	c.(490-492)Ccc>Tcc	p.P164S	ROPN1L_uc003jex.4_Missense_Mutation_p.P164S	NM_001201466	NP_001188395	Q96C74	ROP1L_HUMAN	Homo sapiens rhophilin associated tail protein 1-like (ROPN1L), transcript variant 2, mRNA.	164					ciliary or flagellar motility|signal transduction	cytoplasm|motile cilium	cAMP-dependent protein kinase regulator activity|protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)	14						CGCTCGCATCCCCTTCAAGAC	0.567000														76			20		0	0	0.002299	0	0
GSG2	83903	broad.mit.edu	37	17	3627278	3627278	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:3627278G>A	uc002fwp.3	+	0	82	c.49G>A	c.(49-51)Ggg>Agg	p.G17R	ITGAE_uc002fwo.4_Intron|ITGAE_uc002fwn.4_5'Flank	NM_031965	NP_114171	Q8TF76	HASP_HUMAN	Homo sapiens germ cell associated 2 (haspin) (GSG2), mRNA.	17					cell cycle|chromatin modification|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity										CCGCACATATGGGGCTGCGGA	0.692000														21			4		0	0	0.000602	0	0
RNF31	55072	broad.mit.edu	37	14	24621198	24621199	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:24621198_24621199CC>TT	uc001wmn.1	+	10	2376_2377	c.2127_2128CC>TT	c.(2125-2130)aaccgg>aaTTgg	p.R710W	RNF31_uc001wml.1_Missense_Mutation_p.R559W|RNF31_uc001wmm.1_Non-coding_Transcript|RNF31_uc010alg.1_Missense_Mutation_p.R469W|RNF31_uc001wmo.1_Missense_Mutation_p.R177W|RNF31_uc001wmp.3_Non-coding_Transcript	NM_017999	NP_060469	Q96EP0	RNF31_HUMAN	Homo sapiens ring finger protein 31 (RNF31), mRNA.	710					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)		TGCCCCACAACCGGGTAAGTCC	0.594000														15			7		0	0	0.004672	0	0
CSMD1	64478	broad.mit.edu	37	8	3226852	3226852	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:3226852G>A	uc022aqr.1	-	18	3213	c.2823C>T	c.(2821-2823)gtC>gtT	p.V941V	CSMD1_uc011kwj.2_Silent_p.V334V|CSMD1_uc003wqe.3_Silent_p.V98V	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	942	CUB 6.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CAGGAGAAAGGACTGTTCCAC	0.398000														21			7		0	0	0.001984	0	0
MUM1L1	139221	broad.mit.edu	37	X	105450534	105450534	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chrX:105450534A>T	uc022cca.1	+	0	1109	c.1109A>T	c.(1108-1110)gAt>gTt	p.D370V	MUM1L1_uc004emg.2_Missense_Mutation_p.D370V|MUM1L1_uc004emf.2_Missense_Mutation_p.D370V	NM_001171020	NP_001164491	Q5H9M0	MUML1_HUMAN	Homo sapiens melanoma associated antigen (mutated) 1-like 1 (MUM1L1), transcript variant 1, mRNA.	370										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						TCTCTATTAGATGATGATGAG	0.363000														4			11		0	0	0.000978	0	0
CMYA5	202333	broad.mit.edu	37	5	79026021	79026021	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:79026021C>T	uc003kgc.3	+	1	1505	c.1433C>T	c.(1432-1434)cCc>cTc	p.P478L		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	Homo sapiens cardiomyopathy associated 5 (CMYA5), mRNA.	478						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		CCTACCCATCCCAGTGTCAAA	0.468000														78			46		0	0	0.003610	0	0
SPINK13	153218	broad.mit.edu	37	5	147649648	147649648	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:147649648C>T	uc003lpc.3	+	1	216	c.13C>T	c.(13-15)Ccc>Tcc	p.P5S	AK054753_uc003lpb.1_Intron|SPINK13_uc010jgt.3_Non-coding_Transcript	NM_001040129	NP_001035218	Q1W4C9	ISK13_HUMAN	Homo sapiens serine peptidase inhibitor, Kazal type 13 (putative) (SPINK13), mRNA.	5						extracellular region	serine-type endopeptidase inhibitor activity			breast(2)|lung(3)	5						GGCTGCCTTTCCCCACAAGAT	0.403000														106			22		0	0	0.002299	0	0
C1orf168	199920	broad.mit.edu	37	1	57192233	57192233	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:57192233C>T	uc001cym.4	-	15	2223	c.1817G>A	c.(1816-1818)tGg>tAg	p.W606*	C1orf168_uc009vzu.1_Non-coding_Transcript|C1orf168_uc001cyl.3_Non-coding_Transcript	NM_001004303	NP_001004303	Q5VWT5	CA168_HUMAN	Homo sapiens chromosome 1 open reading frame 168 (C1orf168), mRNA.	606										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						CTTGGGCTTCCACATTTTCAG	0.363000														74			16		0	0	0.008871	0	0
ERLEC1	27248	broad.mit.edu	37	2	54024892	54024892	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:54024892C>T	uc002rxl.3	+	4	730	c.450C>T	c.(448-450)taC>taT	p.Y150Y	GPR75-ASB3_uc002rxi.4_Intron|ERLEC1_uc002rxm.3_Silent_p.Y150Y|ERLEC1_uc002rxn.3_Silent_p.Y150Y	NM_015701	NP_056516	Q96DZ1	ERLEC_HUMAN	Homo sapiens endoplasmic reticulum lectin 1 (ERLEC1), transcript variant 1, mRNA.	150	PRKCSH 1.				ER-associated protein catabolic process	endoplasmic reticulum lumen	glycoprotein binding|protein binding			endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|stomach(1)|urinary_tract(1)	18						ACGAGTACTACCTTGGGAATA	0.289000														73			34		0	0	0.007835	0	0
SCNN1G	6340	broad.mit.edu	37	16	23205548	23205548	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:23205548G>A	uc002dlm.1	+	4	1005	c.866G>A	c.(865-867)aGa>aAa	p.R289K		NM_001039	NP_001030	P51170	SCNNG_HUMAN	Homo sapiens sodium channel, nonvoltage-gated 1, gamma (SCNN1G), mRNA.	289					excretion|sensory perception of taste	apical plasma membrane|integral to plasma membrane	WW domain binding|ligand-gated sodium channel activity			NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	TTCAACAACAGAGAAAATGAG	0.493000														87			26		0	0	0.003755	0	0
NMBR	4829	broad.mit.edu	37	6	142399709	142399709	+	Missense_Mutation	SNP	C	G	G	rs145581958		TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:142399709C>G	uc003qiu.3	-	1	895	c.754G>C	c.(754-756)Gaa>Caa	p.E252Q		NM_002511	NP_002502	P28336	NMBR_HUMAN	Homo sapiens neuromedin B receptor (NMBR), mRNA.	252					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	cytoplasm|integral to plasma membrane	bombesin receptor activity			breast(2)|central_nervous_system(3)|endometrium(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013)		TTGGTATGTTCATTGTATTCT	0.353000														25			9		0	0	0.000978	0	0
HSPG2	3339	broad.mit.edu	37	1	22161318	22161318	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:22161318A>G	uc009vqd.3	-	76	10617	c.10577T>C	c.(10576-10578)gTt>gCt	p.V3526A	HSPG2_uc001bfj.3_Missense_Mutation_p.V3525A	NM_005529	NP_005520	P98160	PGBM_HUMAN	Homo sapiens heparan sulfate proteoglycan 2 (HSPG2), mRNA.	3525	Ig-like C2-type 21.				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)	GTGCCCTCCAACTTTGCTCCA	0.627000														25			13		0	0	0.001855	0	0
TRRAP	8295	broad.mit.edu	37	7	98509802	98509802	+	Missense_Mutation	SNP	C	T	T	rs147405090		TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:98509802C>T	uc003upp.3	+	17	2374	c.2165C>T	c.(2164-2166)tCc>tTc	p.S722F	TRRAP_uc011kis.2_Missense_Mutation_p.S722F|TRRAP_uc003upr.3_Missense_Mutation_p.S414F	NM_001244580	NP_001231509	Q9Y4A5	TRRAP_HUMAN	Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA.	722					histone H2A acetylation|histone H4 acetylation|histone deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	p.S722F(15)		NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GGCTCTGTCTCCCTCTTTGCA	0.463000														74			26		0	0	0.006320	0	0
ARPP21	10777	broad.mit.edu	37	3	35732379	35732379	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:35732379C>T	uc011axy.2	+	7	780	c.568C>T	c.(568-570)Cag>Tag	p.Q190*	ARPP21_uc003cga.3_Nonsense_Mutation_p.Q190*|ARPP21_uc003cgb.3_Nonsense_Mutation_p.Q190*|ARPP21_uc003cgf.3_Nonsense_Mutation_p.Q26*	NM_016300	NP_057384	Q9UBL0	ARP21_HUMAN	Homo sapiens cAMP-regulated phosphoprotein, 21kDa (ARPP21), transcript variant 1, mRNA.	190	R3H.					cytoplasm	nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						AAAGTTCCCTCAGATGTCATC	0.343000														38			24		0	0	0.005443	0	0
OR2F2	135948	broad.mit.edu	37	7	143633222	143633222	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:143633222G>A	uc011ktv.2	+	0	897	c.897G>A	c.(895-897)ggG>ggA	p.G299G		NM_001004685	NP_001004685	O95006	OR2F2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily F, member 2 (OR2F2), mRNA.	299					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)					AGGTGAAGGGGGCCTGGCATA	0.413000														32			10		0	0	0.000978	0	0
CLU	1191	broad.mit.edu	37	8	27457476	27457476	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:27457476C>T	uc003xfy.2	-	6	1165	c.1018G>A	c.(1018-1020)Gaa>Aaa	p.E340K	CLU_uc003xfw.2_Missense_Mutation_p.E329K|CLU_uc003xfx.2_Missense_Mutation_p.E329K|CLU_uc003xfz.2_Missense_Mutation_p.E329K	NM_001831	NP_001822	P10909	CLUS_HUMAN	Homo sapiens clusterin (CLU), transcript variant 1, mRNA.	329					chaperone-mediated protein folding|complement activation, classical pathway|innate immune response|lipid metabolic process|negative regulation of apoptosis|negative regulation of protein homooligomerization|platelet activation|platelet degranulation|positive regulation of NF-kappaB transcription factor activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|response to misfolded protein|response to virus|reverse cholesterol transport	chromaffin granule|cytosol|endoplasmic reticulum|microsome|mitochondrial membrane|nucleus|perinuclear region of cytoplasm|platelet alpha granule lumen|spherical high-density lipoprotein particle	misfolded protein binding|ubiquitin protein ligase binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)	21		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|Colorectal(74;0.132)		TGGAGGGATTCGTCGAGCTCC	0.557000														34			10		0	0	0.001368	0	0
PTPRF	5792	broad.mit.edu	37	1	44069127	44069127	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:44069127C>T	uc001cjr.3	+	14	2721	c.2381C>T	c.(2380-2382)tCc>tTc	p.S794F	PTPRF_uc001cjs.3_Missense_Mutation_p.S785F|PTPRF_uc001cju.3_Missense_Mutation_p.S365F|PTPRF_uc009vwt.3_Missense_Mutation_p.S356F|PTPRF_uc001cjv.3_Missense_Mutation_p.S254F|PTPRF_uc001cjw.3_Missense_Mutation_p.S20F	NM_002840	NP_002831	P10586	PTPRF_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, F (PTPRF), transcript variant 1, mRNA.	794	Fibronectin type-III 5.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				ACCACCTACTCCGTTACTGTT	0.582000														34			21		0	0	0.002780	0	0
ACP1	52	broad.mit.edu	37	2	272128	272128	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:272128C>T	uc002qwf.3	+	2	305	c.209C>T	c.(208-210)cCc>cTc	p.P70L	ACP1_uc002qwd.2_Missense_Mutation_p.P70L|ACP1_uc002qwe.4_Intron|ACP1_uc002qwg.3_Intron|ACP1_uc002qwh.3_Intron	NM_004300	NP_004291	P24666	PPAC_HUMAN	Homo sapiens acid phosphatase 1, soluble (ACP1), transcript variant 3, mRNA.	70						cytoplasm|internal side of plasma membrane|nucleus|soluble fraction	acid phosphatase activity|identical protein binding|non-membrane spanning protein tyrosine phosphatase activity			endometrium(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	12	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.00175)|Lung NSC(108;0.216)|all_epithelial(98;0.236)		all cancers(51;0.000391)|Epithelial(75;0.00281)|OV - Ovarian serous cystadenocarcinoma(76;0.00542)|GBM - Glioblastoma multiforme(21;0.127)		CACGGCATTCCCATGAGCCAC	0.577000														32			10		0	0	0.000978	0	0
CPAMD8	27151	broad.mit.edu	37	19	17115153	17115153	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:17115153C>T	uc002nfb.3	-	7	776	c.744G>A	c.(742-744)ttG>ttA	p.L248L		NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	Homo sapiens C3 and PZP-like, alpha-2-macroglobulin domain containing 8 (CPAMD8), mRNA.	201						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						ACCATTCTCCCAACACAGGCT	0.488000														46			16		0	0	0.006122	0	0
SHANK2	22941	broad.mit.edu	37	11	70332129	70332129	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:70332129G>A	uc001oqc.3	-	20	4183	c.4071C>T	c.(4069-4071)atC>atT	p.I1357I	SHANK2_uc010rqn.2_Silent_p.I833I|SHANK2_uc001opz.3_Silent_p.I828I|BC127192_uc009ysn.1_Intron|SHANK2_uc001opy.3_Intron	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 2 (SHANK2), transcript variant 1, mRNA.	1044					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|SH3 domain binding|ionotropic glutamate receptor binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			GGTCATCGGGGATATCAAAAC	0.522000														62			42		0	0	0.003610	0	0
NLRP9	338321	broad.mit.edu	37	19	56244544	56244544	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:56244544G>A	uc002qly.3	-	1	681	c.653C>T	c.(652-654)tCc>tTc	p.S218F		NM_176820	NP_789790	Q7RTR0	NALP9_HUMAN	Homo sapiens NLR family, pyrin domain containing 9 (NLRP9), mRNA.	218	NACHT.					cytoplasm	ATP binding	p.S218F(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)		CTCTGGCTGGGAAAAAATGTC	0.478000														24			10		0	0	0.000978	0	0
MR1	3140	broad.mit.edu	37	1	181021424	181021424	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:181021424C>T	uc001goq.2	+	4	819	c.658C>T	c.(658-660)Ctc>Ttc	p.L220F	MR1_uc001gor.2_Missense_Mutation_p.L175F|MR1_uc001gos.2_Intron|MR1_uc010pns.2_Intron	NM_001531	NP_001522	Q95460	HMR1_HUMAN	Homo sapiens major histocompatibility complex, class I-related (MR1), transcript variant 1, mRNA.	220	Alpha-3.|Ig-like C1-type.				antigen processing and presentation of peptide antigen via MHC class I|immune response	MHC class I protein complex|endoplasmic reticulum|extracellular region|integral to membrane	MHC class I receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	18						GGTTACAGCTCTCTTCTGCAA	0.413000														45			12		0	0	0.000978	0	0
MEP1B	4225	broad.mit.edu	37	18	29797058	29797058	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr18:29797058C>T	uc002kxj.4	+	12	1911	c.1864C>T	c.(1864-1866)Cga>Tga	p.R622*		NM_005925	NP_005916	Q16820	MEP1B_HUMAN	Homo sapiens meprin A, beta (MEP1B), mRNA.	622	EGF-like.				digestion|proteolysis	extracellular space|integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						CTGCACTGTTCGAGATGGCAA	0.398000														48			31		0	0	0.002445	0	0
FLG	2312	broad.mit.edu	37	1	152285642	152285642	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:152285642C>T	uc001ezu.1	-	2	1756	c.1720G>A	c.(1720-1722)Gag>Aag	p.E574K	AK056431_uc001ezv.3_5'Flank	NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	574	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.E574K(2)|p.E574D(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GATTGTTCCTCATTTCGTGTT	0.557000									Ichthyosis					214			65		0	0	0.003610	0	0
SALL3	27164	broad.mit.edu	37	18	76752136	76752136	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr18:76752136G>A	uc002lmt.3	+	1	145	c.145G>A	c.(145-147)Gag>Aag	p.E49K	SALL3_uc010dra.3_5'Flank	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN	Homo sapiens sal-like 3 (Drosophila) (SALL3), mRNA.	49					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)		CGGGGGCGAGGAGACCAGCGT	0.692000														8			7		0	0	0.004482	0	0
DTX1	1840	broad.mit.edu	37	12	113534574	113534574	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:113534574A>C	uc001tuk.1	+	8	2029	c.1693A>C	c.(1693-1695)Acg>Ccg	p.T565P		NM_004416	NP_004407	Q86Y01	DTX1_HUMAN	Homo sapiens deltex homolog 1 (Drosophila) (DTX1), mRNA.	565					Notch signaling pathway|negative regulation of neuron differentiation|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						CACTATCGGCACGTCCAACAC	0.642000														21			8		0	0	0.003080	0	0
FCER1A	2205	broad.mit.edu	37	1	159273745	159273745	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:159273745A>G	uc001ftq.3	+	3	201	c.104A>G	c.(103-105)aAc>aGc	p.N35S		NM_002001	NP_001992	P12319	FCERA_HUMAN	Homo sapiens Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide (FCER1A), mRNA.	35	Ig-like 1.					integral to plasma membrane				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(19)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_hematologic(112;0.0429)				Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043)	GTCTCCTTGAACCCTCCATGG	0.363000														30			12		0	0	0.001855	0	0
RGS12	6002	broad.mit.edu	37	4	3418713	3418713	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:3418713C>T	uc003ggw.3	+	7	3405	c.2501C>T	c.(2500-2502)gCg>gTg	p.A834V	RGS12_uc010ics.1_Missense_Mutation_p.A33V|RGS12_uc003ggv.3_Missense_Mutation_p.A834V|RGS12_uc003ggy.1_Missense_Mutation_p.A232V|RGS12_uc010ict.1_Missense_Mutation_p.A186V|RGS12_uc003ggz.3_Missense_Mutation_p.A186V|RGS12_uc010icu.1_Missense_Mutation_p.A33V|RGS12_uc011bvs.2_Missense_Mutation_p.A176V|RGS12_uc003gha.3_Missense_Mutation_p.A176V|RGS12_uc010icv.3_Missense_Mutation_p.A33V|RGS12_uc003ghb.2_Missense_Mutation_p.A33V	NM_198229	NP_937872	O14924	RGS12_HUMAN	Homo sapiens regulator of G-protein signaling 12 (RGS12), transcript variant 1, mRNA.	834						condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TGCATCCTGGCGGAAGTGGAG	0.582000														59			12		0	0	0.001368	0	0
SERPINI2	5276	broad.mit.edu	37	3	167159919	167159919	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:167159919C>T	uc003fes.1	-	8	1297	c.1226G>A	c.(1225-1227)gGa>gAa	p.G409E	SERPINI2_uc003fer.1_Missense_Mutation_p.G399E|SERPINI2_uc003fet.1_Missense_Mutation_p.G399E	NM_006217	NP_006208	O75830	SPI2_HUMAN	Homo sapiens serpin peptidase inhibitor, clade I (pancpin), member 2 (SERPINI2), mRNA.	399					cellular component movement|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1)	41						TAAATCTCTTCCTTTTATCTC	0.328000														31			12		0	0	0.001855	0	0
KCNH4	23415	broad.mit.edu	37	17	40322266	40322266	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:40322266C>T	uc002hzb.2	-	7	1582	c.1249G>A	c.(1249-1251)Gtg>Atg	p.V417M		NM_012285	NP_036417	Q9UQ05	KCNH4_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 4 (KCNH4), mRNA.	417					regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		GGGCCGCCCACCGAGCCATTG	0.632000														19			7		0	0	0.004482	0	0
SLC12A6	9990	broad.mit.edu	37	15	34528243	34528243	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:34528243C>T	uc001zhw.3	-	22	3364	c.3200G>A	c.(3199-3201)gGa>gAa	p.G1067E	SLC12A6_uc001zhv.3_Missense_Mutation_p.G1016E|SLC12A6_uc001zhz.3_Non-coding_Transcript|SLC12A6_uc001zhx.3_Missense_Mutation_p.G1052E|SLC12A6_uc001zhy.3_Non-coding_Transcript|SLC12A6_uc001zia.3_Missense_Mutation_p.G1008E|SLC12A6_uc001zib.3_Missense_Mutation_p.G1058E|SLC12A6_uc001zic.3_Missense_Mutation_p.G1067E|SLC12A6_uc010bau.3_Missense_Mutation_p.G1067E|SLC12A6_uc001zid.3_Missense_Mutation_p.G1008E|SLC12A6_uc001zht.3_Non-coding_Transcript|SLC12A6_uc001zhu.3_Missense_Mutation_p.G879E	NM_133647	NP_598408	Q9UHW9	S12A6_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 6 (SLC12A6), transcript variant 1, mRNA.	1067					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)	GTCCTGGAATCCTTCCATTGA	0.458000														81			17		0	0	0.001523	0	0
SIGLEC8	27181	broad.mit.edu	37	19	51960867	51960867	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:51960867G>A	uc002pwt.3	-	1	648	c.581C>T	c.(580-582)gCc>gTc	p.A194V	SIGLEC8_uc010yda.2_Intron|SIGLEC8_uc002pwu.3_Non-coding_Transcript|SIGLEC8_uc010eox.2_Intron	NM_014442	NP_055257	Q9NYZ4	SIGL8_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 8 (SIGLEC8), mRNA.	194	Ig-like C2-type 1.				cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		GGACACGGAGGCCCCAATCCA	0.652000														35			10		0	0	0.008291	0	0
PDZD2	23037	broad.mit.edu	37	5	32087274	32087274	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:32087274G>A	uc003jhl.3	+	19	4108	c.3720G>A	c.(3718-3720)ggG>ggA	p.G1240G	PDZD2_uc003jhm.3_Silent_p.G1240G	NM_178140	NP_835260	O15018	PDZD2_HUMAN	Homo sapiens PDZ domain containing 2 (PDZD2), mRNA.	1240					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						CTTCCCCAGGGAAGAAGGGGG	0.567000														67			32		0	0	0.005524	0	0
GBAS	2631	broad.mit.edu	37	7	56051492	56051492	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:56051492C>T	uc003tre.2	+	5	549	c.516C>T	c.(514-516)ttC>ttT	p.F172F	GBAS_uc003trf.2_Silent_p.F133F	NM_001483	NP_001474	O75323	NIPS2_HUMAN	Homo sapiens glioblastoma amplified sequence (GBAS), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	172						integral to plasma membrane|membrane fraction|mitochondrion	protein binding			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(2)	5	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TGTTGGAGTTCAGTTTCTGGA	0.388000														57			44		0	0	0.002522	0	0
CDX2	1045	broad.mit.edu	37	13	28537473	28537473	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr13:28537473C>T	uc001urv.3	-	2	895	c.721G>A	c.(721-723)Gag>Aag	p.E241K		NM_001265	NP_001256	Q99626	CDX2_HUMAN	Homo sapiens caudal type homeobox 2 (CDX2), mRNA.	241					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)		ATTTTCCTCTCCTTTGCTCTG	0.532000			T	ETV6	AML									9			3		0	0	0.004672	0	0
KIF5B	3799	broad.mit.edu	37	10	32328322	32328322	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:32328322G>A	uc001iwe.4	-	3	796	c.326C>T	c.(325-327)cCa>cTa	p.P109L		NM_004521	NP_004512	P33176	KINH_HUMAN	Homo sapiens kinesin family member 5B (KIF5B), mRNA.	109	Kinesin-motor.				stress granule disassembly|vesicle transport along microtubule	kinesin complex|microtubule|perinuclear region of cytoplasm|vesicle	ATP binding|microtubule binding|microtubule motor activity		KIF5B/ALK(8)|KIF5B/RET(79)	NS(2)|breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)	35		Prostate(175;0.0137)				CACTATTCTTGGAATAATTCC	0.249000			T	"""RET, ALK"""	NSCLC									54			23		0	0	0.004656	0	0
PLAU	5328	broad.mit.edu	37	10	75673753	75673753	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:75673753G>A	uc001jwa.3	+	7	842	c.696G>A	c.(694-696)aaG>aaA	p.K232K	C10orf55_uc001jvz.2_Intron|PLAU_uc010qkw.2_Silent_p.K215K|PLAU_uc010qkx.2_Silent_p.K146K|PLAU_uc001jwb.3_Non-coding_Transcript|PLAU_uc001jwc.3_Silent_p.K232K|PLAU_uc009xrq.1_Silent_p.K196K	NM_002658	NP_002649	P00749	UROK_HUMAN	Homo sapiens plasminogen activator, urokinase (PLAU), transcript variant 1, mRNA.	232	Peptidase S1.				blood coagulation|chemotaxis|fibrinolysis|proteolysis|regulation of cell adhesion mediated by integrin|regulation of receptor activity|regulation of smooth muscle cell migration|regulation of smooth muscle cell-matrix adhesion|signal transduction	cell surface|extracellular space|plasma membrane	serine-type endopeptidase activity			cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(3)|ovary(2)	16	Prostate(51;0.0112)				Amiloride(DB00594)|Urokinase(DB00013)	ACCCAAAGAAGGAGGACTACA	0.493000														46			15		0	0	0.006122	0	0
WBSCR17	64409	broad.mit.edu	37	7	70880941	70880941	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:70880941G>A	uc003tvy.3	+	3	656	c.656G>A	c.(655-657)aGa>aAa	p.R219K	WBSCR17_uc003tvz.3_5'UTR	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN	Homo sapiens Williams-Beuren syndrome chromosome region 17 (WBSCR17), mRNA.	219	Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.V218L(1)		NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				AAGGTGGTAAGAAATCAGAAG	0.537000														16			17		0	0	0.004007	0	0
KIAA0196	9897	broad.mit.edu	37	8	126061373	126061373	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:126061373G>A	uc003yrt.3	-	18	2583	c.2254C>T	c.(2254-2256)Cat>Tat	p.H752Y	KIAA0196_uc011lir.2_Missense_Mutation_p.H604Y	NM_014846	NP_055661	Q12768	STRUM_HUMAN	Homo sapiens KIAA0196 (KIAA0196), mRNA.	752					cell death	WASH complex				NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	42	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			AAAGAACGATGGAATCCATCC	0.413000														31			10		0	0	0.008291	0	0
SCN11A	11280	broad.mit.edu	37	3	38888977	38888977	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:38888977G>A	uc021wvy.1	-	25	4783	c.4584C>T	c.(4582-4584)atC>atT	p.I1528I		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	1528					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)	ATATGTCATCGATTCCAGACT	0.443000														18			38		0	0	0.007835	0	0
ZNF175	7728	broad.mit.edu	37	19	52090197	52090197	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:52090197T>G	uc002pxb.3	+	4	991	c.613T>G	c.(613-615)Ttg>Gtg	p.L205V		NM_007147	NP_009078	Q9Y473	ZN175_HUMAN	Homo sapiens zinc finger protein 175 (ZNF175), mRNA.	205					response to virus	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257)		TACAGAAAGTTTGAAGCTGAA	0.438000														52			18		0	0	0.006122	0	0
EGFLAM	133584	broad.mit.edu	37	5	38418302	38418302	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:38418302G>A	uc003jlc.2	+	11	1975	c.1629G>A	c.(1627-1629)agG>agA	p.R543R	EGFLAM_uc003jlb.2_Silent_p.R543R|EGFLAM_uc003jle.2_Silent_p.R309R|EGFLAM_uc003jlf.2_Intron	NM_001205301	NP_001192230	Q63HQ2	EGFLA_HUMAN	Homo sapiens EGF-like, fibronectin type III and laminin G domains (EGFLAM), transcript variant 5, mRNA.	543	Laminin G-like 1.					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)					TGAATGGGAGGAGAATTGACA	0.562000														37			12		0	0	0.001855	0	0
PLD2	5338	broad.mit.edu	37	17	4722407	4722407	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:4722407C>T	uc002fzc.3	+	21	2328	c.2202C>T	c.(2200-2202)tcC>tcT	p.S734S	PLD2_uc002fzd.3_Silent_p.S734S	NM_002663	NP_002654	O14939	PLD2_HUMAN	Homo sapiens phospholipase D2 (PLD2), transcript variant 1, mRNA.	734	Catalytic.				cell communication|cytoskeleton organization|small GTPase mediated signal transduction		NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)	31					Choline(DB00122)	ACTATATTTCCATCTGCGGGC	0.612000														25			8		0	0	0.003080	0	0
TIGD5	84948	broad.mit.edu	37	8	144680968	144680968	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:144680968G>A	uc003yyx.2	+	0	895	c.895G>A	c.(895-897)Gac>Aac	p.D299N	EEF1D_uc011lki.2_5'Flank|EEF1D_uc003yyv.3_5'Flank|EEF1D_uc003yyu.3_5'Flank|EEF1D_uc011lkk.2_5'Flank|EEF1D_uc003yyt.3_5'Flank|EEF1D_uc003yyr.3_5'Flank|EEF1D_uc003yys.3_5'Flank|EEF1D_uc011lkl.2_5'Flank	NM_032862	NP_116251	E7EWS2	E7EWS2_HUMAN	Homo sapiens tigger transposable element derived 5 (TIGD5), mRNA.	299					regulation of transcription, DNA-dependent	chromosome, centromeric region	DNA binding			NS(1)|lung(3)|ovary(1)|soft_tissue(1)|urinary_tract(1)	7	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)			GCGGCTGCCGGACCCGCCCAG	0.726000														17			7		0	0	0.001984	0	0
DNAJC6	9829	broad.mit.edu	37	1	65858274	65858274	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:65858274G>A	uc001dce.1	+	11	1830	c.1629G>A	c.(1627-1629)caG>caA	p.Q543Q	DNAJC6_uc001dcc.1_Silent_p.Q517Q|DNAJC6_uc001dcd.1_Silent_p.Q486Q|DNAJC6_uc010opc.1_Silent_p.Q473Q	NM_014787	NP_055602	O75061	AUXI_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 6 (DNAJC6), mRNA.	486	Pro-rich.				cellular membrane organization|post-Golgi vesicle-mediated transport	cytosol	SH3 domain binding|heat shock protein binding|protein tyrosine phosphatase activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(22)|ovary(1)|prostate(2)|skin(1)	39						AAAAGCAGCAGGAGCCAGCAG	0.562000														22			6		0	0	0.001984	0	0
KIAA0284	283638	broad.mit.edu	37	14	105353067	105353067	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:105353067C>T	uc001yps.3	+	10	2587	c.2281C>T	c.(2281-2283)Cca>Tca	p.P761S	KIAA0284_uc010axb.3_Missense_Mutation_p.P761S|KIAA0284_uc001ypt.3_5'Flank	NM_015005	NP_055820	Q9Y4F5	K0284_HUMAN	Homo sapiens KIAA0284 (KIAA0284), transcript variant 2, mRNA.	831						cytoplasm|microtubule				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(5)|prostate(3)|soft_tissue(1)	14		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000472)|OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0149)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.178)		GCCCAGCCCCCCAGCACGGGA	0.637000														21			7		0	0	0.001984	0	0
CDYL2	124359	broad.mit.edu	37	16	80667066	80667066	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:80667066C>T	uc002ffs.3	-	2	789	c.684G>A	c.(682-684)aaG>aaA	p.K228K		NM_152342	NP_689555	Q8N8U2	CDYL2_HUMAN	Homo sapiens chromodomain protein, Y-like 2 (CDYL2), mRNA.	228						nucleus	catalytic activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	21						AGACGTAGTCCTTCTCCGCTT	0.498000														64			23		0	0	0.003954	0	0
SLC4A1	6521	broad.mit.edu	37	17	42330504	42330504	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:42330504G>T	uc002igf.4	-	16	2442	c.2293C>A	c.(2293-2295)Ctg>Atg	p.L765M	SLC4A1_uc021tyc.1_Missense_Mutation_p.L399M	NM_000342	NP_000333	P02730	B3AT_HUMAN	Homo sapiens solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group) (SLC4A1), mRNA.	765	Membrane (anion exchange).				bicarbonate transport|cellular ion homeostasis	Z disc|basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		ACAGCGACCAGGAGTCCACTG	0.637000														47			6		0.00307968	0.00369494	0.003080	1	0
IL17RA	23765	broad.mit.edu	37	22	17590263	17590263	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr22:17590263C>T	uc002zly.3	+	12	2285	c.2154C>T	c.(2152-2154)ttC>ttT	p.F718F		NM_014339	NP_055154	Q96F46	I17RA_HUMAN	Homo sapiens interleukin 17 receptor A (IL17RA), mRNA.	718					fibroblast activation|positive regulation of interleukin-23 production	integral to plasma membrane	interleukin-17 receptor activity			endometrium(2)|large_intestine(8)|lung(16)|ovary(1)|skin(2)|stomach(1)	30		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.241)		GCGTCCTCTTCCTCCCCGTGG	0.711000														12			6		0	0	0.003080	0	0
CBLN2	147381	broad.mit.edu	37	18	70209173	70209173	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr18:70209173C>G	uc002lku.2	-	1	458	c.223G>C	c.(223-225)Gac>Cac	p.D75H	CBLN2_uc002lkv.2_Missense_Mutation_p.D75H	NM_182511	NP_872317	Q8IUK8	CBLN2_HUMAN	Homo sapiens cerebellin 2 precursor (CBLN2), mRNA.	75						integral to membrane				endometrium(2)|lung(15)	17		Esophageal squamous(42;0.131)				ACGGCGCCGTCCGCCGACGGG	0.711000														14			10		0	0	0.008291	0	0
CCNL2	81669	broad.mit.edu	37	1	1322766	1322766	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:1322766G>A	uc001afi.2	-	10	1440	c.1408C>T	c.(1408-1410)Cga>Tga	p.R470*	CCNL2_uc010nym.1_Non-coding_Transcript|CCNL2_uc001aff.1_Nonsense_Mutation_p.R248*|CCNL2_uc001afg.1_Nonsense_Mutation_p.R248*|CCNL2_uc001afj.2_Nonsense_Mutation_p.R248*	NM_030937	NP_112199	Q96S94	CCNL2_HUMAN	Homo sapiens cyclin L2 (CCNL2), transcript variant 1, mRNA.	470					RNA processing|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	protein kinase binding			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146)		GACCTGCTTCGAGAACGGGAA	0.552000														24			27		0	0	0.002096	0	0
OSBPL6	114880	broad.mit.edu	37	2	179247813	179247813	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:179247813C>T	uc002uly.3	+	17	2303	c.1759C>T	c.(1759-1761)Cct>Tct	p.P587S	MIR548N_uc021vsx.1_Intron|OSBPL6_uc002ulx.3_Missense_Mutation_p.P562S|OSBPL6_uc010zfe.2_Missense_Mutation_p.P531S|OSBPL6_uc002ulz.3_Missense_Mutation_p.P526S|OSBPL6_uc002uma.3_Missense_Mutation_p.P566S	NM_001201480	NP_001188409	Q9BZF3	OSBL6_HUMAN	Homo sapiens oxysterol binding protein-like 6 (OSBPL6), transcript variant 3, mRNA.	562					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)			CCTGCCAGCTCCTTGTCCTGA	0.507000														67			29		0	0	0.001786	0	0
NCAN	1463	broad.mit.edu	37	19	19339322	19339322	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:19339322G>A	uc002nlz.3	+	7	2992	c.2893G>A	c.(2893-2895)Ggc>Agc	p.G965S	NCAN_uc010ecc.1_Missense_Mutation_p.G529S	NM_004386	NP_004377	O14594	NCAN_HUMAN	Homo sapiens neurocan (NCAN), mRNA.	965					axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			TGTCACCCTGGGCATAGAGGA	0.652000														96			47		0	0	0.003610	0	0
ZNF777	27153	broad.mit.edu	37	7	149152579	149152579	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:149152579G>A	uc003wfv.3	-	1	698	c.535C>T	c.(535-537)Ccc>Tcc	p.P179S		NM_015694	NP_056509	Q9ULD5	ZN777_HUMAN	Homo sapiens zinc finger protein 777 (ZNF777), mRNA.	179					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P179L(1)		large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			TCTGCCGTGGGGAGCGGCTGT	0.617000														75			29		0	0	0.001786	0	0
ZNF286A	57335	broad.mit.edu	37	17	15620080	15620080	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:15620080C>T	uc010cot.3	+	5	1438	c.1042C>T	c.(1042-1044)Cat>Tat	p.H348Y	ZNF286A_uc002goz.4_Missense_Mutation_p.H236Y|ZNF286A_uc010vwa.2_Missense_Mutation_p.H348Y|ZNF286A_uc002gpa.3_Missense_Mutation_p.H348Y	NM_001130842	NP_065703	Q9HBT8	Z286A_HUMAN	Homo sapiens zinc finger protein 286A (ZNF286A), transcript variant 2, mRNA.	348					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(1115;0.0222)|BRCA - Breast invasive adenocarcinoma(8;0.0781)		TCAGTTGATTCATACTGGAGT	0.368000														36			21		0	0	0.003330	0	0
KIF12	113220	broad.mit.edu	37	9	116854257	116854257	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:116854257C>T	uc004bif.3	-	15	1664	c.1426G>A	c.(1426-1428)Gcc>Acc	p.A476T	KIF12_uc004big.3_Non-coding_Transcript	NM_138424	NP_612433	Q96FN5	KIF12_HUMAN	Homo sapiens kinesin family member 12 (KIF12), mRNA.	609	Pro-rich.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	17						AGTCTCTGGGCCAGGTTTGGA	0.672000														19			10		0	0	0.008291	0	0
ANK3	288	broad.mit.edu	37	10	62039349	62039349	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:62039349C>T	uc001jky.3	-	1	501	c.163G>A	c.(163-165)Gaa>Aaa	p.E55K	ANK3_uc010qih.2_Missense_Mutation_p.E38K|ANK3_uc001jkz.4_Missense_Mutation_p.E49K|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.	55					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						AGGGCCTTTTCAAGGTGTCCA	0.328000														122			58		0	0	0.003610	0	0
DDX60	55601	broad.mit.edu	37	4	169173784	169173784	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:169173784G>A	uc003irp.3	-	26	3873	c.3581C>T	c.(3580-3582)aCc>aTc	p.T1194I		NM_017631	NP_060101	Q8IY21	DDX60_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 60 (DDX60), mRNA.	1194							ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		CACATTTCTGGTTTTTTTCTG	0.323000														118			24		0	0	0.004656	0	0
KRT36	8689	broad.mit.edu	37	17	39646091	39646091	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:39646091G>A	uc002hwt.3	-	0	26	c.26C>T	c.(25-27)aCc>aTc	p.T9I		NM_003771	NP_003762	O76013	KRT36_HUMAN	Homo sapiens keratin 36 (KRT36), mRNA.	9	Head.					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)				AGTGGAGAAGGTAGGGGTGCA	0.592000														31			11		0	0	0.001855	0	0
ABCC8	6833	broad.mit.edu	37	11	17414625	17414625	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:17414625C>T	uc001mnc.3	-	38	4785	c.4659G>A	c.(4657-4659)cgG>cgA	p.R1553R		NM_000352	NP_000343	Q09428	ABCC8_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 8 (ABCC8), mRNA.	1553	ABC transporter 2.				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)	GGATGGCACCCCGCTTCAGGA	0.627000														166			84		0	0	0.003610	0	0
CNTN5	53942	broad.mit.edu	37	11	100126527	100126527	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:100126527G>A	uc001pga.3	+	16	2545	c.2041G>A	c.(2041-2043)Gaa>Aaa	p.E681K	CNTN5_uc001pfz.3_Missense_Mutation_p.E681K|CNTN5_uc021qpb.1_Missense_Mutation_p.E681K|CNTN5_uc021qpc.1_Missense_Mutation_p.E607K|CNTN5_uc010ruk.2_5'UTR	NM_014361	NP_055176	O94779	CNTN5_HUMAN	Homo sapiens contactin 5 (CNTN5), transcript variant 1, mRNA.	681	Fibronectin type-III 1.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		AATTGTTGAGGAAATAACCGA	0.478000														77			22		0	0	0.003330	0	0
ADAMTSL4	54507	broad.mit.edu	37	1	150530542	150530542	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:150530542G>A	uc009wlw.3	+	13	2526	c.2368G>A	c.(2368-2370)Gga>Aga	p.G790R	ADAMTSL4_uc001euw.3_Missense_Mutation_p.G767R|ADAMTSL4_uc001eux.3_Missense_Mutation_p.G767R|ADAMTSL4_uc010pcg.2_Missense_Mutation_p.G728R|ADAMTSL4_uc009wlx.3_5'UTR	NM_019032	NP_061905	Q6UY14	ATL4_HUMAN	Homo sapiens ADAMTS-like 4 (ADAMTSL4), transcript variant 1, mRNA.	767	TSP type-1 3.				apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding			breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			GGAGCGCTGTGGACATCTCCC	0.677000														76			48		0	0	0.003610	0	0
PIK3R1	5295	broad.mit.edu	37	5	67522769	67522769	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:67522769C>T	uc003jva.3	+	1	846	c.266C>T	c.(265-267)cCc>cTc	p.P89L		NM_181523	NP_852664	P27986	P85A_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 1 (alpha) (PIK3R1), transcript variant 1, mRNA.	89					T cell costimulation|T cell receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.0?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	ACACCAAAGCCCCGGCCACCT	0.463000			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)				30			16		0	0	0.007413	0	0
NFASC	23114	broad.mit.edu	37	1	204948605	204948605	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:204948605C>T	uc010prc.2	+	17	2324	c.795C>T	c.(793-795)taC>taT	p.Y265Y	NFASC_uc001hbj.3_Silent_p.Y698Y|NFASC_uc010pra.2_Silent_p.Y694Y|NFASC_uc001hbi.3_Silent_p.Y694Y|NFASC_uc010prb.2_Silent_p.Y709Y|NFASC_uc001hbk.1_Silent_p.Y504Y|NFASC_uc001hbl.2_5'Flank			O94856	NFASC_HUMAN	Homo sapiens neurofascin (NFASC), transcript variant 2, mRNA.	698	Ig-like C2-type 3.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			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)			ATGTCAACTACCAGTTCCGTG	0.597000														79			18		0	0	0.008871	0	0
DGCR6	8214	broad.mit.edu	37	22	18899146	18899146	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr22:18899146C>T	uc002zoh.4	+	4	759	c.607C>T	c.(607-609)Ccc>Tcc	p.P203S	DGCR6_uc002zog.3_Non-coding_Transcript|DGCR6_uc002zoi.4_Non-coding_Transcript	NM_005675	NP_005666	Q14129	DGCR6_HUMAN	Homo sapiens DiGeorge syndrome critical region gene 6 (DGCR6), mRNA.	203					cell adhesion|organ morphogenesis	nucleus|proteinaceous extracellular matrix				central_nervous_system(1)|cervix(1)|upper_aerodigestive_tract(1)	3						GCTAGGAGGTCCCTGGCAGTT	0.607000														13			4		0	0	0.000248	0	0
DNAJC28	54943	broad.mit.edu	37	21	34860693	34860693	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr21:34860693T>G	uc021wim.1	-	0	1008	c.1008A>C	c.(1006-1008)agA>agC	p.R336S	DNAJC28_uc002yrv.3_Missense_Mutation_p.R336S|DNAJC28_uc002yrw.3_Missense_Mutation_p.R336S	NM_017833	NP_060303	Q9NX36	DJC28_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 28 (DNAJC28), transcript variant 1, mRNA.	336				LIVPILTRQKVHFDAQKEIVRAQKIYETLIKTKEVTDRNPN NLDQGEGEKTPEIKKGFLNWMNLWKFIKIRSF -> CSHPD QAKSPF (in Ref. 2; BAA91185).			heat shock protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(5)|skin(1)|urinary_tract(1)	18						TTTTCTGGGCTCTGACAATTT	0.343000														36			23		0	0	0.003330	0	0
SLC5A1	6523	broad.mit.edu	37	22	32498076	32498076	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr22:32498076A>G	uc003amc.3	+	12	1767	c.1517A>G	c.(1516-1518)tAt>tGt	p.Y506C	SLC5A1_uc011alz.2_Missense_Mutation_p.Y379C	NM_000343	NP_000334	P13866	SC5A1_HUMAN	Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 1 (SLC5A1), transcript variant 1, mRNA.	506					carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37						GAGTTTGCTTATGGAACCGGG	0.478000														36			20		0	0	0.008871	0	0
TERT	7015	broad.mit.edu	37	5	1278771	1278771	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:1278771C>T	uc003jcb.1	-	5	2329	c.2271G>A	c.(2269-2271)aaG>aaA	p.K757K	TERT_uc003jbz.1_Missense_Mutation_p.R14K|TERT_uc003jcc.1_Silent_p.K757K|TERT_uc003jca.1_Silent_p.K745K|TERT_uc003jcd.1_Non-coding_Transcript|TERT_uc003jce.1_Non-coding_Transcript|TERT_uc021xvz.1_Intron|TERT_uc021xwa.1_Intron|TERT_uc021xwb.1_Intron|TERT_uc021xwc.1_Silent_p.K209K	NM_198253	NP_937983	O14746	TERT_HUMAN	Homo sapiens telomerase reverse transcriptase (TERT), transcript variant 1, mRNA.	757	Reverse transcriptase.				DNA strand elongation|anti-apoptosis|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase	PML body|cytoplasm|nucleolus|telomerase holoenzyme complex	protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			TCTTGAAGGCCTTGCGGACGT	0.567000									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis					183			80		0	0	0.003610	0	0
RASSF2	9770	broad.mit.edu	37	20	4773227	4773228	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr20:4773227_4773228CC>TT	uc002wld.3	-	4	387_388	c.333_334GG>AA	c.(331-336)gaggtg>gaAAtg	p.V112M	RASSF2_uc002wlc.3_Non-coding_Transcript|RASSF2_uc002wlf.3_Missense_Mutation_p.V112M	NM_170774	NP_739580	P50749	RASF2_HUMAN	Homo sapiens Ras association (RalGDS/AF-6) domain family member 2 (RASSF2), transcript variant 2, mRNA.	112					cell cycle|signal transduction	nucleus	protein binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|pancreas(2)|prostate(2)|skin(2)	34						GGGGCATCCACCTCTGAGATCT	0.564000														27			12		0	0	0.004672	0	0
TEAD3	7005	broad.mit.edu	37	6	35454263	35454263	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:35454263G>A	uc003oku.4	-	1	413	c.177C>T	c.(175-177)atC>atT	p.I59I	TEAD3_uc010jvx.3_Missense_Mutation_p.S42F	NM_003214	NP_003205	Q99594	TEAD3_HUMAN	Homo sapiens TEA domain family member 3 (TEAD3), mRNA.	59					female pregnancy|hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	10						CGTCTGACAGGATGATCTTCC	0.692000														28			11		0	0	0.001368	0	0
CYP4Z2P	163720	broad.mit.edu	37	1	47333708	47333708	+	RNA	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:47333708G>A	uc001cqo.1	-	7		c.1019C>T			CYP4Z2P_uc009vyn.1_Non-coding_Transcript					Homo sapiens cytochrome P450, family 4, subfamily Z, polypeptide 2 pseudogene (CYP4Z2P), non-coding RNA.																		AGCAGTAAAAGATCCAGGAGA	0.453000														13			12		0	0	0.000978	0	0
ZNF536	9745	broad.mit.edu	37	19	31039262	31039262	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:31039262G>A	uc002nsu.1	+	3	2874	c.2736G>A	c.(2734-2736)gtG>gtA	p.V912V	ZNF536_uc010edd.1_Silent_p.V912V	NM_014717	NP_055532	O15090	ZN536_HUMAN	Homo sapiens zinc finger protein 536 (ZNF536), mRNA.	912					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GCAACGGTGTGAATTTCCAAG	0.498000														138			55		0	0	0.003610	0	0
CASD1	64921	broad.mit.edu	37	7	94185045	94185045	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:94185045C>T	uc003uni.4	+	17	2596	c.2369C>T	c.(2368-2370)tCc>tTc	p.S790F	CASD1_uc003unj.4_Missense_Mutation_p.S790F	NM_022900	NP_075051	Q96PB1	CASD1_HUMAN	Homo sapiens CAS1 domain containing 1 (CASD1), mRNA.	790						integral to membrane				NS(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1)	31	all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			ATCTTATCATCCATTCAAGAT	0.338000														55			14		0	0	0.004990	0	0
FAM190B	54462	broad.mit.edu	37	10	86132173	86132173	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:86132173A>T	uc010qmd.1	+	1	1559	c.1365A>T	c.(1363-1365)gaA>gaT	p.E455D	FAM190B_uc001kdg.1_Missense_Mutation_p.E455D|FAM190B_uc001kdh.1_Missense_Mutation_p.E455D			Q9H7U1	F190B_HUMAN	Homo sapiens family with sequence similarity 190, member B (FAM190B), mRNA.	455										NS(2)|endometrium(2)|kidney(4)|large_intestine(11)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	31						CCCCCAAGGAAAATGAAAAAG	0.333000														132			39		0	0	0.003610	0	0
DPAGT1	1798	broad.mit.edu	37	11	118969169	118969169	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:118969169G>A	uc001pvi.3	-	4	1092	c.672C>T	c.(670-672)tcC>tcT	p.S224S	H2AFX_uc001pvg.3_5'Flank|DPAGT1_uc001pvj.3_Silent_p.S117S|DPAGT1_uc001pvk.3_Silent_p.S52S|DPAGT1_uc001pvm.1_Silent_p.S117S|DPAGT1_uc010rza.2_Silent_p.S117S	NM_001382	NP_001373	Q9H3H5	GPT_HUMAN	Homo sapiens dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase) (DPAGT1), mRNA.	224					dolichol biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein oligomerization	integral to endoplasmic reticulum membrane|microsome	UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity|phospho-N-acetylmuramoyl-pentapeptide-transferase activity|transferase activity, transferring glycosyl groups			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	17	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.55e-05)		TGAAGTAGAGGGAAAAGACAT	0.433000														58			23		0	0	0.004656	0	0
KCNA5	3741	broad.mit.edu	37	12	5154998	5154998	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:5154998C>T	uc001qni.3	+	0	1914	c.1685C>T	c.(1684-1686)tCc>tTc	p.S562F		NM_002234	NP_002225	P22460	KCNA5_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 5 (KCNA5), mRNA.	562						Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52						AGCAGGGGATCCTTCTGCAAG	0.642000														26			13		0	0	0.001855	0	0
AP3B2	8120	broad.mit.edu	37	15	83334278	83334278	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:83334278C>T	uc010uoi.2	-	15	2079	c.1902G>A	c.(1900-1902)aaG>aaA	p.K634K	AP3B2_uc010uoh.2_Silent_p.K634K|AP3B2_uc010uoj.2_Silent_p.K602K|AP3B2_uc010bmp.3_5'Flank|AP3B2_uc010uog.2_Silent_p.K270K|DQ601936_uc002biy.1_5'Flank	NM_004644	NP_004635	Q13367	AP3B2_HUMAN	Homo sapiens adaptor-related protein complex 3, beta 2 subunit (AP3B2), mRNA.	634					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	COPI-coated vesicle|clathrin coated vesicle membrane|membrane coat	binding|protein transporter activity			breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41			BRCA - Breast invasive adenocarcinoma(143;0.229)			AGCCTGTGGCCTTGGCATTAA	0.607000														81			19		0	0	0.002299	0	0
MORC1	27136	broad.mit.edu	37	3	108723946	108723946	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:108723946C>T	uc003dxl.3	-	18	2071	c.1984G>A	c.(1984-1986)Gaa>Aaa	p.E662K	MORC1_uc011bhn.2_Missense_Mutation_p.E641K	NM_014429	NP_055244	Q86VD1	MORC1_HUMAN	Homo sapiens MORC family CW-type zinc finger 1 (MORC1), mRNA.	662					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						TTGACATTTTCTGGCAGAGCT	0.348000														77			34		0	0	0.003271	0	0
UGT2B28	54490	broad.mit.edu	37	4	70160494	70160494	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:70160494T>G	uc003hej.3	+	5	1559	c.1557T>G	c.(1555-1557)ttT>ttG	p.F519L	UGT2B28_uc010ihr.3_3'UTR	NM_053039	NP_444267	Q9BY64	UDB28_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B28 (UGT2B28), transcript variant 1, mRNA.	519					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31					Flunitrazepam(DB01544)	TCTGGAAGTTTGCTAGAAAAG	0.403000														56			9		0	0	0.006214	0	0
CCP110	9738	broad.mit.edu	37	16	19539302	19539302	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:19539302C>T	uc002dgl.4	+	1	346	c.99C>T	c.(97-99)atC>atT	p.I33I	CCP110_uc002dgk.4_Silent_p.I33I	NM_001199022	NP_001185951	O43303	CP110_HUMAN	Homo sapiens centriolar coiled coil protein 110kDa (CCP110), transcript variant 1, mRNA.	33	CEP97 binding.				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						CTGAAAGTATCTCACTTATTC	0.388000														42			11		0	0	0.008291	0	0
SLC38A10	124565	broad.mit.edu	37	17	79220411	79220411	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:79220411C>T	uc002jzz.1	-	15	2680	c.2305G>A	c.(2305-2307)Gcc>Acc	p.A769T	SLC38A10_uc002jzy.1_Missense_Mutation_p.A687T|SLC38A10_uc021uey.1_5'UTR	NM_001037984	NP_001033073	Q9HBR0	S38AA_HUMAN	Homo sapiens solute carrier family 38, member 10 (SLC38A10), transcript variant 1, mRNA.	769					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)			GTCTCCCTGGCCTTGCCTTCA	0.632000														69			18		0	0	0.008871	0	0
GAS2L3	283431	broad.mit.edu	37	12	101017784	101017784	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:101017784A>G	uc001thu.3	+	9	1427	c.1201A>G	c.(1201-1203)Aat>Gat	p.N401D	GAS2L3_uc009zty.3_Missense_Mutation_p.N401D|GAS2L3_uc001thv.3_Missense_Mutation_p.N297D	NM_174942	NP_777602	Q86XJ1	GA2L3_HUMAN	Homo sapiens growth arrest-specific 2 like 3 (GAS2L3), mRNA.	401					cell cycle arrest			p.N400K(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35						TCCTTCAAACAATGCATCATC	0.423000														60			28		0	0	0.005443	0	0
GRM8	2918	broad.mit.edu	37	7	126746637	126746637	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:126746637C>T	uc003vlr.2	-	1	951	c.640G>A	c.(640-642)Gga>Aga	p.G214R	GRM8_uc003vls.2_Non-coding_Transcript|GRM8_uc011kof.1_Non-coding_Transcript|GRM8_uc003vlt.2_Missense_Mutation_p.G214R|GRM8_uc010lkz.1_Non-coding_Transcript|GRM8_uc003vlu.1_5'UTR	NM_000845	NP_000836	O00222	GRM8_HUMAN	Homo sapiens glutamate receptor, metabotropic 8 (GRM8), transcript variant 1, mRNA.	214					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)	TAATTCCATCCCAGTGCTGTC	0.512000										HNSCC(24;0.065)				30			22		0	0	0.002299	0	0
GALNTL6	442117	broad.mit.edu	37	4	173930333	173930333	+	Missense_Mutation	SNP	G	A	A	rs146923140		TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:173930333G>A	uc003isv.3	+	10	2112	c.1376G>A	c.(1375-1377)cGa>cAa	p.R459Q		NM_001034845	NP_001030017	Q49A17	GLTL6_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6 (GALNTL6), mRNA.	459	Ricin B-type lectin.					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						CCACAGATCCGAAATGTGGCA	0.443000														68			25		0	0	0.007291	0	0
MEPCE	56257	broad.mit.edu	37	7	100029239	100029239	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:100029239C>T	uc003uuw.3	+	0	1986	c.1598C>T	c.(1597-1599)cCc>cTc	p.P533L	ZCWPW1_uc003uut.3_5'Flank|ZCWPW1_uc011kjr.2_5'Flank|ZCWPW1_uc011kjt.1_5'Flank|ZCWPW1_uc011kju.1_5'Flank|MEPCE_uc022ain.1_Missense_Mutation_p.P64L|MEPCE_uc022aio.1_Missense_Mutation_p.P64L|MEPCE_uc003uuv.3_Missense_Mutation_p.P64L	NM_019606	NP_062552	Q7L2J0	MEPCE_HUMAN	Homo sapiens methylphosphate capping enzyme (MEPCE), transcript variant 1, mRNA.	533	Bin3-type SAM.						methyltransferase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(9)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AGCCGGGGTCCCATCGCTGCC	0.612000														18			8		0	0	0.003080	0	0
OR4C16	219428	broad.mit.edu	37	11	55339661	55339661	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:55339661T>A	uc010rih.2	+	0	58	c.58T>A	c.(58-60)Ttt>Att	p.F20I		NM_001004701	NP_001004701	Q8NGL9	OR4CG_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 16 (OR4C16), mRNA.	20					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41		all_epithelial(135;0.0748)				ACAGGATCCTTTTTGGAAGAA	0.398000														67			33		0	0	0.003755	0	0
LRP1B	53353	broad.mit.edu	37	2	141032134	141032134	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:141032134G>A	uc002tvj.1	-	84	13973	c.13001C>T	c.(13000-13002)tCa>tTa	p.S4334L		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	4334	EGF-like 13.				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)		AATGGTACATGATTCAGAATT	0.403000										TSP Lung(27;0.18)				24			12		0	0	0.003163	0	0
MT1F	4494	broad.mit.edu	37	16	56692623	56692623	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:56692623A>C	uc002ejt.3	+	1	181	c.65A>C	c.(64-66)aAa>aCa	p.K22T		NM_005949	NP_005940	P04733	MT1F_HUMAN	Homo sapiens metallothionein 1F (MT1F), mRNA.	22	Beta.					cytoplasm	cadmium ion binding|copper ion binding|zinc ion binding										TGCAAGTGCAAAGAGTGCAAA	0.562000														27			13		0	0	0.006122	0	0
TAAR8	83551	broad.mit.edu	37	6	132873904	132873904	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:132873904C>T	uc011ecj.2	+	0	73	c.73C>T	c.(73-75)Ccc>Tcc	p.P25S		NM_053278	NP_444508	Q969N4	TAAR8_HUMAN	Homo sapiens trace amine associated receptor 8 (TAAR8), mRNA.	25						plasma membrane	G-protein coupled receptor activity	p.T24S(1)		endometrium(3)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00412)|GBM - Glioblastoma multiforme(226;0.00792)		TATTGAAACTCCCTATTCTCC	0.428000														75			14		0	0	0.001855	0	0
PCLO	27445	broad.mit.edu	37	7	82584769	82584769	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:82584769C>T	uc003uhx.2	-	4	5789	c.5500G>A	c.(5500-5502)Gaa>Aaa	p.E1834K	PCLO_uc003uhv.2_Missense_Mutation_p.E1834K	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	1765					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GATGCATCTTCAATGGGAGAG	0.428000														161			67		0	0	0.003610	0	0
FCGBP	8857	broad.mit.edu	37	19	40408010	40408010	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:40408010C>T	uc002omp.4	-	8	4719	c.4711G>A	c.(4711-4713)Ggc>Agc	p.G1571S		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	1571	Cys-rich.|TIL 3.					extracellular region	protein binding	p.G1571D(1)		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)			TAGAGGAAGCCGGAGTCACAC	0.602000														35			7		0	0	0.001984	0	0
NCAM2	4685	broad.mit.edu	37	21	22838998	22838998	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr21:22838998G>A	uc002yld.2	+	12	1975	c.1726G>A	c.(1726-1728)Gga>Aga	p.G576R	NCAM2_uc011acb.2_Missense_Mutation_p.G434R	NM_004540	NP_004531	O15394	NCAM2_HUMAN	Homo sapiens neural cell adhesion molecule 2 (NCAM2), mRNA.	576	Fibronectin type-III 1.				neuron cell-cell adhesion	integral to membrane|plasma membrane				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		AAATGGAAAGGGACAAGGAGA	0.323000														14			10		0	0	0.008291	0	0
MLLT4	4301	broad.mit.edu	37	6	168325703	168325703	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:168325703G>A	uc021zik.1	+	21	3206	c.2887G>A	c.(2887-2889)Gaa>Aaa	p.E963K	MLLT4_uc003qwb.1_Missense_Mutation_p.E988K|MLLT4_uc003qwc.2_Missense_Mutation_p.E1004K|MLLT4_uc021zij.1_Missense_Mutation_p.E988K|MLLT4_uc021zim.1_Missense_Mutation_p.E550K|MLLT4_uc003qwg.1_Missense_Mutation_p.E313K	NM_001040000	NP_001035089	P55196	AFAD_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (MLLT4), transcript variant 2, mRNA.	1004					adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		TCTGAGGAAAGAACCTGAAAT	0.408000			T	MLL	AL									40			15		0	0	0.008871	0	0
USH2A	7399	broad.mit.edu	37	1	216373101	216373101	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:216373101C>T	uc001hku.1	-	16	4066	c.3679G>A	c.(3679-3681)Ggc>Agc	p.G1227S	USH2A_uc001hkv.3_Missense_Mutation_p.G1227S	NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	1227	Fibronectin type-III 2.				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)		TGTAAACAGCCCCCGCTAGTA	0.488000										HNSCC(13;0.011)				34			20		0	0	0.008871	0	0
ITPKC	80271	broad.mit.edu	37	19	41223580	41223580	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:41223580G>A	uc002oot.3	+	0	573	c.540G>A	c.(538-540)ggG>ggA	p.G180G	ADCK4_uc002ooq.2_5'Flank|ADCK4_uc002oor.2_5'Flank|ADCK4_uc002oos.2_5'Flank	NM_025194	NP_079470	Q96DU7	IP3KC_HUMAN	Homo sapiens inositol-trisphosphate 3-kinase C (ITPKC), mRNA.	180						cytoplasm|nucleus	ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	14			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			AAACGCATGGGTCACAGACTC	0.617000														32			9		0	0	0.006214	0	0
IPO5	3843	broad.mit.edu	37	13	98673250	98673250	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr13:98673250C>T	uc001vne.3	+	27	3304	c.3124C>T	c.(3124-3126)Cat>Tat	p.H1042Y		NM_002271	NP_002262	O00410	IPO5_HUMAN	Homo sapiens importin 5 (IPO5), mRNA.	1024					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						TGTCAGTAATCATCCAATTGT	0.333000														55			39		0	0	0.008740	0	0
DMKN	93099	broad.mit.edu	37	19	36002486	36002486	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:36002486C>A	uc002nzm.4	-	4	928	c.745G>T	c.(745-747)Ggc>Tgc	p.G249C	DMKN_uc002nzj.3_5'Flank|DMKN_uc002nzl.4_5'Flank|DMKN_uc002nzk.4_5'Flank|DMKN_uc002nzo.4_Intron|DMKN_uc002nzn.4_Intron|DMKN_uc002nzu.2_5'Flank|DMKN_uc002nzv.2_5'Flank|DMKN_uc002nzw.2_5'Flank|DMKN_uc002nzq.2_5'Flank|DMKN_uc002nzp.2_5'Flank|DMKN_uc002nzr.2_5'Flank|DMKN_uc002nzs.2_5'Flank|DMKN_uc002nzt.2_5'Flank|DMKN_uc010xsw.2_5'Flank|DMKN_uc010xsv.1_5'Flank|DMKN_uc002nzx.4_5'Flank|DMKN_uc002nzy.4_5'Flank|DMKN_uc002nzz.3_Missense_Mutation_p.G249C|DMKN_uc002oaa.4_Missense_Mutation_p.G249C|DMKN_uc002oab.4_Missense_Mutation_p.G249C|DMKN_uc002oac.4_Missense_Mutation_p.G249C	NM_033317	NP_201574	Q6E0U4	DMKN_HUMAN	Homo sapiens dermokine (DMKN), transcript variant 2, mRNA.	249	Gly-rich.					extracellular region				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(2)	27	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			GACTGTGAGCCGCTGCCTCCC	0.637000														14			7		1.06961e-07	1.29087e-07	0.003080	1	0
SCAF11	9169	broad.mit.edu	37	12	46320912	46320912	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:46320912C>T	uc001rox.3	-	10	2859	c.2572G>A	c.(2572-2574)Gaa>Aaa	p.E858K	SCAF11_uc001row.3_Missense_Mutation_p.E543K|SCAF11_uc001roy.1_Missense_Mutation_p.E932K	NM_004719	NP_004710	Q99590	SCAFB_HUMAN	Homo sapiens SR-related CTD-associated factor 11 (SCAF11), mRNA.	858	Arg-rich.				spliceosome assembly	nucleus	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						TGCCTCCTTTCTCTTGCAATA	0.448000														113			42		0	0	0.003610	0	0
RBM11	54033	broad.mit.edu	37	21	15599409	15599409	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr21:15599409C>T	uc002yjo.4	+	4	683	c.641C>T	c.(640-642)tCc>tTc	p.S214F	RBM11_uc002yjn.4_Missense_Mutation_p.S100F|RBM11_uc002yjp.4_Missense_Mutation_p.S100F	NM_144770	NP_658983	P57052	RBM11_HUMAN	Homo sapiens RNA binding motif protein 11 (RBM11), mRNA.	214							RNA binding|nucleotide binding			endometrium(3)|kidney(3)|lung(7)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16				Epithelial(23;0.000314)|COAD - Colon adenocarcinoma(22;0.00242)|Colorectal(24;0.0129)|Lung(58;0.141)		TCCGTGTCTTCCTCACTGAAT	0.453000														156			94		0	0	0.003610	0	0
LRP2	4036	broad.mit.edu	37	2	170038101	170038101	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:170038101G>A	uc002ues.3	-	51	10239	c.10026C>T	c.(10024-10026)caC>caT	p.H3342H		NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	3342					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)	TGTATGCGCGGTGACCCCAGT	0.488000														31			12		0	0	0.001855	0	0
C19orf57	79173	broad.mit.edu	37	19	14001203	14001203	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:14001203G>A	uc002mxl.1	-	5	525	c.466C>T	c.(466-468)Cag>Tag	p.Q156*	C19orf57_uc002mxk.1_Nonsense_Mutation_p.Q38*	NM_024323	NP_077299	Q0VDD7	CS057_HUMAN	Homo sapiens chromosome 19 open reading frame 57 (C19orf57), mRNA.	156					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)			GTGGCCTCCTGGAGGGGGACC	0.667000														41			11		0	0	0.008291	0	0
SPA17	53340	broad.mit.edu	37	11	124545175	124545175	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:124545175C>T	uc001qap.3	+	1	151	c.15C>T	c.(13-15)ttC>ttT	p.F5F	SIAE_uc001qan.3_5'Flank|SIAE_uc021qru.1_5'UTR|SIAE_uc001qao.2_5'Flank	NM_017425	NP_059121	Q15506	SP17_HUMAN	Homo sapiens sperm autoantigenic protein 17 (SPA17), mRNA.	5					binding of sperm to zona pellucida|ciliary or flagellar motility|signal transduction|spermatogenesis	cytoplasm|flagellum|membrane|motile cilium|primary cilium	cAMP-dependent protein kinase regulator activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	5	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0223)		CGATTCCATTCTCCAACACCC	0.398000														73			35		0	0	0.006999	0	0
ZFP82	284406	broad.mit.edu	37	19	36884177	36884177	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:36884177G>A	uc002ody.1	-	4	1300	c.1065C>T	c.(1063-1065)ctC>ctT	p.L355L		NM_133466	NP_597723	Q8N141	ZFP82_HUMAN	Homo sapiens zinc finger protein 82 homolog (mouse) (ZFP82), mRNA.	355					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TTCTCTGATGGAGTGTTAGTT	0.413000														51			24		0	0	0.002780	0	0
TRIM37	4591	broad.mit.edu	37	17	57181659	57181659	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:57181659T>A	uc002iwy.4	-	1	562	c.118A>T	c.(118-120)Att>Ttt	p.I40F	TRIM37_uc002iwz.4_Missense_Mutation_p.I40F|TRIM37_uc002ixa.4_5'UTR|TRIM37_uc010woc.2_Intron|BC017255_uc002ixb.3_5'Flank	NM_001005207	NP_056109	O94972	TRI37_HUMAN	Homo sapiens tripartite motif containing 37 (TRIM37), transcript variant 2, mRNA.	40						perinuclear region of cytoplasm|peroxisome	ligase activity|protein binding|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					CTTACCCTAATACAGCTGAAA	0.353000									Mulibrey Nanism					27			8		0	0	0.004482	0	0
MMRN1	22915	broad.mit.edu	37	4	90857243	90857243	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:90857243G>A	uc003hst.3	+	5	2483	c.2412G>A	c.(2410-2412)aaG>aaA	p.K804K	MMRN1_uc010iku.3_Intron|MMRN1_uc011cds.2_Silent_p.K546K	NM_007351	NP_031377	Q13201	MMRN1_HUMAN	Homo sapiens multimerin 1 (MMRN1), mRNA.	804					cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		AAGTCGCCAAGACCCTTGCAG	0.378000														47			13		0	0	0.003163	0	0
VTA1	51534	broad.mit.edu	37	6	142525151	142525151	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:142525151C>T	uc003qiw.3	+	6	742	c.727C>T	c.(727-729)Cca>Tca	p.P243S	VTA1_uc011edu.2_Intron	NM_016485	NP_057569	Q9NP79	VTA1_HUMAN	Homo sapiens Vps20-associated 1 homolog (S. cerevisiae) (VTA1), mRNA.	243	Interaction with VPS4B (By similarity).				cellular membrane organization|endosome transport|protein transport	cytosol|endosome membrane	protein binding			endometrium(2)|large_intestine(1)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;1.34e-05)|GBM - Glioblastoma multiforme(68;0.00182)		CCAACCTACTCCACAGACTAT	0.393000														30			12		0	0	0.003163	0	0
EBF3	253738	broad.mit.edu	37	10	131666094	131666094	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:131666094G>A	uc021qav.1	-	8	896	c.795C>T	c.(793-795)ttC>ttT	p.F265F	EBF3_uc001lki.2_Silent_p.F279F	NM_001005463	NP_001005463	Q9H4W6	COE3_HUMAN	Homo sapiens early B-cell factor 3 (EBF3), mRNA.	288	IPT/TIG.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding	p.W265C(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		GCCCGTCAAAGAAGTTGTCGC	0.557000														27			13		0	0	0.001368	0	0
PASD1	139135	broad.mit.edu	37	X	150840119	150840119	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chrX:150840119G>A	uc004fev.4	+	12	1637	c.1305G>A	c.(1303-1305)caG>caA	p.Q435Q		NM_173493	NP_775764	Q8IV76	PASD1_HUMAN	Homo sapiens PAS domain containing 1 (PASD1), mRNA.	435						nucleus	signal transducer activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					AGAAACAACAGAAACAACACG	0.483000														37			45		0	0	0.002522	0	0
OR2L3	391192	broad.mit.edu	37	1	248224624	248224624	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:248224624C>T	uc001idx.1	+	0	641	c.641C>T	c.(640-642)tCa>tTa	p.S214L	OR2L13_uc001ids.3_Intron	NM_001004687	NP_001004687	Q8NG85	OR2L3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily L, member 3 (OR2L3), mRNA.	214					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)			ATTGCTATTTCATGTTCCTAT	0.512000														79			26		0	0	0.004656	0	0
UBR5	51366	broad.mit.edu	37	8	103311161	103311161	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:103311161G>A	uc003ykr.2	-	24	3696	c.3241C>T	c.(3241-3243)Cga>Tga	p.R1081*	UBR5_uc003yks.2_Nonsense_Mutation_p.R1081*	NM_015902	NP_056986	O95071	UBR5_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 5 (UBR5), mRNA.	1081					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	RNA binding|protein binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			TTCGCCTTTCGATCCTTGGAT	0.378000														42			16		0	0	0.006122	0	0
SRGAP3	9901	broad.mit.edu	37	3	9052055	9052055	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:9052055C>T	uc003brf.1	-	17	2840	c.2164G>A	c.(2164-2166)Gag>Aag	p.E722K	SRGAP3_uc003brg.1_Missense_Mutation_p.E698K	NM_014850	NP_055665	O43295	SRGP2_HUMAN	Homo sapiens SLIT-ROBO Rho GTPase activating protein 3 (SRGAP3), transcript variant 1, mRNA.	722	SH3.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		GCCCCTGGCTCGCTGTGTGGG	0.572000			T	RAF1	pilocytic astrocytoma									24			31		0	0	0.002836	0	0
ATP13A5	344905	broad.mit.edu	37	3	193007718	193007718	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:193007718G>A	uc011bsq.2	-	25	2979	c.2979C>T	c.(2977-2979)ctC>ctT	p.L993L		NM_198505	NP_940907	Q4VNC0	AT135_HUMAN	Homo sapiens ATPase type 13A5 (ATP13A5), mRNA.	993					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		GCTTCACATAGAGAAATGCAC	0.398000														45			17		0	0	0.001523	0	0
ADD2	119	broad.mit.edu	37	2	70904014	70904014	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:70904014G>A	uc021vjc.1	-	12	1772	c.1507C>T	c.(1507-1509)Cga>Tga	p.R503*	ADD2_uc010fds.2_Non-coding_Transcript|ADD2_uc002sgy.3_Nonsense_Mutation_p.R503*|ADD2_uc002sgz.3_Nonsense_Mutation_p.R503*|ADD2_uc010fdt.2_Nonsense_Mutation_p.R503*|ADD2_uc002shc.2_Nonsense_Mutation_p.R503*|ADD2_uc010fdu.2_Nonsense_Mutation_p.R519*	NM_001185054	NP_001608	P35612	ADDB_HUMAN	Homo sapiens adducin 2 (beta) (ADD2), transcript variant 5, mRNA.	503					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						TTTTGTTCTCGAATCTGTGTG	0.592000														41			15		0	0	0.003163	0	0
USP46	64854	broad.mit.edu	37	4	53494232	53494232	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:53494232C>T	uc003gzn.3	-	2	401	c.216G>A	c.(214-216)aaG>aaA	p.K72K	USP46_uc003gzm.4_Silent_p.K65K|USP46_uc011bzr.2_Silent_p.K49K|USP46_uc011bzs.2_5'UTR	NM_022832	NP_073743	P62068	UBP46_HUMAN	Homo sapiens ubiquitin specific peptidase 46 (USP46), transcript variant 1, mRNA.	72					behavior|protein deubiquitination|regulation of synaptic transmission, GABAergic|ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.K72N(2)		breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)	12			LUSC - Lung squamous cell carcinoma(32;0.0295)			AGTTTTCCTTCTTCTTTTGCT	0.493000														18			8		0	0	0.006214	0	0
PLAGL1	5325	broad.mit.edu	37	6	144263309	144263309	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:144263309C>T	uc003qjv.3	-	2	1910	c.644G>A	c.(643-645)aGc>aAc	p.S215N	PLAGL1_uc003qjx.3_Missense_Mutation_p.S215N|PLAGL1_uc003qjy.3_Missense_Mutation_p.S215N|PLAGL1_uc010khl.3_Missense_Mutation_p.S215N|PLAGL1_uc010khm.3_Missense_Mutation_p.S215N|PLAGL1_uc003qjz.3_Missense_Mutation_p.S215N|PLAGL1_uc003qka.3_Missense_Mutation_p.S215N|PLAGL1_uc003qkb.3_Missense_Mutation_p.S163N|PLAGL1_uc003qkc.3_Missense_Mutation_p.S215N|PLAGL1_uc003qkd.3_Missense_Mutation_p.S163N|PLAGL1_uc003qke.3_Missense_Mutation_p.S215N|PLAGL1_uc003qkf.3_Missense_Mutation_p.S215N|PLAGL1_uc003qkg.3_Missense_Mutation_p.S163N|PLAGL1_uc003qkh.3_Missense_Mutation_p.S215N|PLAGL1_uc003qki.3_Missense_Mutation_p.S163N|PLAGL1_uc003qkj.3_Missense_Mutation_p.S215N|PLAGL1_uc003qkk.3_Missense_Mutation_p.S163N|PLAGL1_uc003qkl.3_Missense_Mutation_p.S163N|PLAGL1_uc003qkm.3_Missense_Mutation_p.S215N|PLAGL1_uc010khn.3_Missense_Mutation_p.S215N|PLAGL1_uc003qkn.3_Missense_Mutation_p.S163N|PLAGL1_uc003qko.3_Missense_Mutation_p.S215N|PLAGL1_uc003qkp.3_Missense_Mutation_p.S163N|PLAGL1_uc003qjw.3_Missense_Mutation_p.S163N|PLAGL1_uc021zgj.1_Missense_Mutation_p.S163N	NM_002656	NP_002647	Q9UM63	PLAL1_HUMAN	Homo sapiens pleiomorphic adenoma gene-like 1 (PLAGL1), transcript variant 1, mRNA.	215					cell cycle arrest|induction of apoptosis|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(4)|lung(2)|prostate(1)|skin(3)|stomach(2)	13				OV - Ovarian serous cystadenocarcinoma(155;5.74e-07)|GBM - Glioblastoma multiforme(68;0.0885)		GGTCTGCAAGCTCTCTTTCAT	0.552000											OREG0017707	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		281			125		0	0	0.003610	0	0
SCN4A	6329	broad.mit.edu	37	17	62034642	62034642	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:62034642G>A	uc002jds.1	-	12	2333	c.2256C>T	c.(2254-2256)ctC>ctT	p.L752L		NM_000334	NP_000325	P35499	SCN4A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IV, alpha subunit (SCN4A), mRNA.	752					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.L752I(1)		breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	GGAAGACGATGAGGAAGGAGT	0.577000														28			8		0	0	0.003080	0	0
MYH7B	57644	broad.mit.edu	37	20	33578591	33578591	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr20:33578591C>T	uc002xbi.2	+	22	2471	c.2154C>T	c.(2152-2154)ttC>ttT	p.F718F	MIR499B_uc021wch.1_5'Flank	NM_020884	NP_065935	A7E2Y1	MYH7B_HUMAN	Homo sapiens myosin, heavy chain 7B, cardiac muscle, beta (MYH7B), mRNA.	676	Myosin head-like.					membrane|myosin filament	ATP binding|actin binding|motor activity			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			AGCCCCACTTCGTCCGCTGCA	0.617000														38			11		0	0	0.001368	0	0
EGFLAM	133584	broad.mit.edu	37	5	38463945	38463945	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:38463945G>A	uc003jlc.2	+	22	3257	c.2911G>A	c.(2911-2913)Gaa>Aaa	p.E971K	EGFLAM_uc003jlb.2_Missense_Mutation_p.E963K|EGFLAM_uc003jle.2_Missense_Mutation_p.E729K|EGFLAM_uc003jlf.2_Missense_Mutation_p.E329K|EGFLAM_uc003jlg.2_Missense_Mutation_p.E106K|EGFLAM_uc003jlh.2_Missense_Mutation_p.E53K	NM_001205301	NP_001192230	Q63HQ2	EGFLA_HUMAN	Homo sapiens EGF-like, fibronectin type III and laminin G domains (EGFLAM), transcript variant 5, mRNA.	971	Laminin G-like 3.					cell junction|proteinaceous extracellular matrix|synapse		p.E963K(1)		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)					TGGAATGAAGGAAATTGCTCT	0.537000														45			11		0	0	0.000978	0	0
DNAH5	1767	broad.mit.edu	37	5	13777418	13777418	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:13777418G>A	uc003jfd.2	-	53	9040	c.8998C>T	c.(8998-9000)Cga>Tga	p.R3000*		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3000	AAA 4 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.R3000*(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)					CCAGCTGTTCGATACAAAACC	0.313000									Kartagener syndrome					42			20		0	0	0.001523	0	0
COL9A2	1298	broad.mit.edu	37	1	40773873	40773873	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:40773873T>A	uc001cfh.1	-	16	1003	c.891A>T	c.(889-891)aaA>aaT	p.K297N	COL9A2_uc001cfi.1_Missense_Mutation_p.K116N	NM_001852	NP_001843	Q14055	CO9A2_HUMAN	Homo sapiens collagen, type IX, alpha 2 (COL9A2), mRNA.	297	Triple-helical region 3 (COL3).				axon guidance|skeletal system development	collagen type IX				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(4)|stomach(2)|urinary_tract(2)	22	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.08e-17)			CCGTTGCTCCTTTCGGGCCTG	0.627000														15			12		0	0	0.001855	0	0
GOT1	2805	broad.mit.edu	37	10	101163320	101163320	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:101163320C>T	uc001kpr.3	-	6	1073	c.865G>A	c.(865-867)Gag>Aag	p.E289K		NM_002079	NP_002070	P17174	AATC_HUMAN	Homo sapiens glutamic-oxaloacetic transaminase 1, soluble (aspartate aminotransferase 1) (GOT1), mRNA.	289					aspartate catabolic process|cellular response to insulin stimulus|gluconeogenesis|response to glucocorticoid stimulus	cytosol	L-aspartate:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)	16		Ovarian(717;0.028)|Colorectal(252;0.234)		Epithelial(162;4.76e-10)|all cancers(201;3.84e-08)	L-Aspartic Acid(DB00128)|L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	ACGATCTTCTCCATCTGGGAA	0.532000														57			32		0	0	0.002836	0	0
UPF1	5976	broad.mit.edu	37	19	18966754	18966754	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:18966754C>T	uc002nkg.3	+	11	1873	c.1598C>T	c.(1597-1599)cCg>cTg	p.P533L	UPF1_uc002nkf.3_Missense_Mutation_p.P522L	NM_002911	NP_002902	Q92900	RENT1_HUMAN	Homo sapiens UPF1 regulator of nonsense transcripts homolog (yeast) (UPF1), mRNA.	533					DNA repair|DNA replication|cell cycle|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|DNA binding|RNA binding|chromatin binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						GTGTGTGCTCCGAGCAACATC	0.597000														28			6		0	0	0.001168	0	0
TTN	7273	broad.mit.edu	37	2	179442904	179442904	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:179442904G>A	uc021vsy.1	-	270	60859	c.60634C>T	c.(60634-60636)Ctc>Ttc	p.L20212F	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.L13907F|TTN_uc021vta.1_Missense_Mutation_p.L13840F|TTN_uc021vtb.1_Missense_Mutation_p.L13715F|AX746670_uc002umv.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	21139							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)			TTGAACTCGAGATGATACCCT	0.358000														66			32		0	0	0.003755	0	0
GLTSCR1	29998	broad.mit.edu	37	19	48197743	48197743	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:48197743C>T	uc002phh.4	+	7	2849	c.2655C>T	c.(2653-2655)tcC>tcT	p.S885S	GLTSCR1_uc002phi.4_Silent_p.S643S	NM_015711	NP_056526	Q9NZM4	GSCR1_HUMAN	Homo sapiens glioma tumor suppressor candidate region gene 1 (GLTSCR1), mRNA.	885							protein binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|pancreas(3)|prostate(4)|skin(2)	20		all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000358)|OV - Ovarian serous cystadenocarcinoma(262;0.000576)|Epithelial(262;0.0212)|GBM - Glioblastoma multiforme(486;0.0355)		CCTCCACCTCCTCTGCTGTGG	0.711000														3			3		0	0	0.000248	0	0
CECR6	27439	broad.mit.edu	37	22	17600967	17600968	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr22:17600967_17600968CC>TT	uc002zmb.2	-	0	1246_1247	c.1050_1051GG>AA	c.(1048-1053)acgggc>acAAgc	p.G351S	CECR6_uc002zma.2_5'UTR|BC021738_uc002zmc.3_5'Flank	NM_031890	NP_114096	Q9BXQ6	CECR6_HUMAN	Homo sapiens cat eye syndrome chromosome region, candidate 6 (CECR6), transcript variant 1, mRNA.	351										haematopoietic_and_lymphoid_tissue(1)	1		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.221)		AGACGGAAGCCCGTGGTGCCGA	0.668000														25			14		0	0	0.004672	0	0
KRTAP1-1	81851	broad.mit.edu	37	17	39197225	39197225	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:39197225G>A	uc002hvw.1	-	0	489	c.425C>T	c.(424-426)tCc>tTc	p.S142F		NM_030967	NP_112229	Q07627	KRA11_HUMAN	Homo sapiens keratin associated protein 1-1 (KRTAP1-1), mRNA.	142						extracellular region|keratin filament				NS(2)|endometrium(2)|kidney(5)|lung(4)|prostate(1)	14		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			CTGGCAGCAGGATGGGGGTGT	0.672000														12			11		0	0	0.001368	0	0
PCDH11Y	83259	broad.mit.edu	37	Y	4925194	4925194	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chrY:4925194A>C	uc004fqo.3	+	0	1064	c.330A>C	c.(328-330)gaA>gaC	p.E110D	PCDH11Y_uc010nwg.1_Missense_Mutation_p.E99D|PCDH11Y_uc004fql.1_Missense_Mutation_p.E99D|PCDH11Y_uc004fqm.1_Missense_Mutation_p.E99D|PCDH11Y_uc004fqn.1_Missense_Mutation_p.E110D	NM_032973	NP_116755	Q9BZA8	PC11Y_HUMAN	Homo sapiens protocadherin 11 Y-linked (PCDH11Y), transcript variant c, mRNA.	110	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						TTCGAATTGAAGAGGATACTG	0.453000														33			9		0	0	0.006214	0	0
KCNQ1	3784	broad.mit.edu	37	11	2608862	2608862	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:2608862G>A	uc001lwn.3	+	8	1299	c.1191G>A	c.(1189-1191)cgG>cgA	p.R397R	KCNQ1_uc009ydp.1_Silent_p.R181R|KCNQ1_uc001lwo.3_Silent_p.R270R	NM_000218	NP_000209	P51787	KCNQ1_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 1 (KCNQ1), transcript variant 1, mRNA.	397					blood circulation|membrane depolarization|muscle contraction|sensory perception of sound		delayed rectifier potassium channel activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)	21		all_epithelial(84;3.26e-05)|Breast(177;0.001)|Medulloblastoma(188;0.00111)|Ovarian(85;0.00158)|all_neural(188;0.00725)|all_lung(207;0.11)|Lung NSC(207;0.159)		BRCA - Breast invasive adenocarcinoma(625;0.00251)|Lung(200;0.131)	Bepridil(DB01244)|Indapamide(DB00808)	TCTACATCCGGAAGGCCCCCC	0.637000														184			76		0	0	0.003610	0	0
FAM47C	442444	broad.mit.edu	37	X	37026888	37026888	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chrX:37026888C>T	uc004ddl.2	+	0	457	c.405C>T	c.(403-405)ccC>ccT	p.P135P		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	Homo sapiens family with sequence similarity 47, member C (FAM47C), mRNA.	135										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						CCATGTACCCCAATCTGGGAG	0.577000														11			24		0	0	0.005443	0	0
NPC1L1	29881	broad.mit.edu	37	7	44579357	44579357	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:44579357C>T	uc003tlb.3	-	1	695	c.639G>A	c.(637-639)ctG>ctA	p.L213L	NPC1L1_uc011kbw.2_Silent_p.L213L|NPC1L1_uc003tlc.3_Silent_p.L213L|NPC1L1_uc003tld.3_Silent_p.L213L	NM_013389	NP_037521	Q9UHC9	NPCL1_HUMAN	Homo sapiens NPC1 (Niemann-Pick disease, type C1, gene)-like 1 (NPC1L1), transcript variant 1, mRNA.	213					cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	CCAGTGGGGCCAGACCATTGC	0.617000														44			17		0	0	0.006122	0	0
SLAMF6	114836	broad.mit.edu	37	1	160461004	160461004	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:160461004C>T	uc001fwe.2	-	2	627	c.557G>A	c.(556-558)aGg>aAg	p.R186K	SLAMF6_uc010pji.2_Missense_Mutation_p.R75K|SLAMF6_uc001fwd.2_Missense_Mutation_p.R186K|SLAMF6_uc010pjh.2_Missense_Mutation_p.R137K|SLAMF6_uc010pjj.2_Missense_Mutation_p.R75K|SLAMF6_uc009wtm.2_Missense_Mutation_p.R137K	NM_001184714	NP_001171643	Q96DU3	SLAF6_HUMAN	Homo sapiens SLAM family member 6 (SLAMF6), transcript variant 1, mRNA.	186	Ig-like.					integral to membrane|plasma membrane	receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(4)	22	all_cancers(52;1.05e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0923)			ACTGGAAATCCTGGGGTCCCA	0.498000														55			35		0	0	0.004878	0	0
SLC12A7	10723	broad.mit.edu	37	5	1076865	1076865	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:1076865G>A	uc003jbu.3	-	12	1758	c.1692C>T	c.(1690-1692)atC>atT	p.I564I		NM_006598	NP_006589	Q9Y666	S12A7_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 7 (SLC12A7), mRNA.	564					potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	CAGTCTCGCAGATGAGGACTG	0.652000														20			10		0	0	0.001368	0	0
CCDC60	160777	broad.mit.edu	37	12	119943007	119943007	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:119943007C>T	uc001txe.3	+	6	1247	c.782C>T	c.(781-783)tCg>tTg	p.S261L	AF086288_uc001txf.3_Intron	NM_178499	NP_848594	Q8IWA6	CCD60_HUMAN	Homo sapiens coiled-coil domain containing 60 (CCDC60), mRNA.	261								p.S261S(1)		endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		AACCCTGGCTCGGATGAGCCC	0.567000														102			49		0	0	0.003610	0	0
CNGA2	1260	broad.mit.edu	37	X	150912081	150912081	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chrX:150912081G>A	uc004fey.1	+	6	1330	c.1106G>A	c.(1105-1107)gGa>gAa	p.G369E		NM_005140	NP_005131	Q16280	CNGA2_HUMAN	Homo sapiens cyclic nucleotide gated channel alpha 2 (CNGA2), mRNA.	369					response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity	p.V368M(2)|p.G369*(1)		breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					ACCATCGTGGGAAATGTGGGC	0.512000														13			36		0	0	0.008740	0	0
C1orf94	84970	broad.mit.edu	37	1	34667806	34667806	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:34667806G>A	uc001bxt.3	+	3	2230	c.1392G>A	c.(1390-1392)ctG>ctA	p.L464L	C1orf94_uc001bxs.4_Silent_p.L274L	NM_001134734	NP_116273	Q6P1W5	CA094_HUMAN	Homo sapiens chromosome 1 open reading frame 94 (C1orf94), transcript variant 1, mRNA.	274							protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32		Myeloproliferative disorder(586;0.0393)				GGCTCAACCTGAACTATCCAC	0.522000														50			20		0	0	0.003954	0	0
ACSS3	79611	broad.mit.edu	37	12	81647105	81647105	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:81647105C>T	uc001szl.1	+	13	1830	c.1739C>T	c.(1738-1740)aCc>aTc	p.T580I	ACSS3_uc001szm.1_Missense_Mutation_p.T579I|ACSS3_uc001szn.1_Missense_Mutation_p.T262I	NM_024560	NP_078836	Q9H6R3	ACSS3_HUMAN	Homo sapiens acyl-CoA synthetase short-chain family member 3 (ACSS3), mRNA.	580						mitochondrion	ATP binding|acetate-CoA ligase activity	p.G579C(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						TCCCATGGTACCGTGGCAGAC	0.373000														219			99		0	0	0.003610	0	0
CPE	1363	broad.mit.edu	37	4	166405617	166405617	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:166405617C>T	uc003irg.4	+	4	1111	c.834C>T	c.(832-834)ttC>ttT	p.F278F		NM_001873	NP_001864	P16870	CBPE_HUMAN	Homo sapiens carboxypeptidase E (CPE), mRNA.	278					cardiac left ventricle morphogenesis|neuropeptide signaling pathway|protein modification process	extracellular region|nucleus|plasma membrane	metallocarboxypeptidase activity|protein binding|zinc ion binding			endometrium(2)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	26	all_hematologic(180;0.221)	Prostate(90;0.0962)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.137)	Glucagon recombinant(DB00040)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	ACGCCATTTTCCAAAGCTTGG	0.493000														152			89		0	0	0.003610	0	0
GYPA	2993	broad.mit.edu	37	4	144922363	144922363	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:144922363C>T	uc003ijm.1	-	1	167	c.111G>A	c.(109-111)aaG>aaA	p.K37K	GYPA_uc003ijn.2_Intron|GYPA_uc010ioo.1_Non-coding_Transcript|GYPA_uc010iop.2_Non-coding_Transcript|GYPA_uc011chv.1_Intron|GYPA_uc011chw.1_Intron|GYPA_uc011chx.1_Intron|GYPA_uc011chy.1_Non-coding_Transcript|GYPA_uc011chs.1_Non-coding_Transcript|GYPA_uc011cht.1_Non-coding_Transcript|GYPA_uc011chu.1_Non-coding_Transcript|GYPA_uc011chz.2_Non-coding_Transcript	NM_002100	NP_002091	P02724	GLPA_HUMAN	Homo sapiens glycophorin B (MNS blood group) (GYPB), mRNA.	37					interspecies interaction between organisms	membrane fraction	receptor activity	p.K37N(1)		central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	10	all_hematologic(180;0.15)					AGATGTAACTCTTTGTGACTG	0.368000														119			20		0	0	0.002780	0	0
CSF2RB	1439	broad.mit.edu	37	22	37334022	37334022	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr22:37334022G>A	uc003aqa.4	+	13	2389	c.2172G>A	c.(2170-2172)ggG>ggA	p.G724G	CSF2RB_uc003aqc.4_Silent_p.G730G	NM_000395	NP_000386	P32927	IL3RB_HUMAN	Homo sapiens colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage) (CSF2RB), mRNA.	724					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)	CAAACTCAGGGGCCTCGTCTG	0.632000														90			26		0	0	0.008361	0	0
ZNF708	7562	broad.mit.edu	37	19	21476932	21476932	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:21476932G>A	uc002npq.1	-	3	1034	c.836C>T	c.(835-837)cCc>cTc	p.P279L	ZNF708_uc002npr.1_Missense_Mutation_p.P215L|ZNF708_uc010ecs.1_Missense_Mutation_p.P215L	NM_021269	NP_067092	P17019	ZN708_HUMAN	Homo sapiens zinc finger protein 708 (ZNF708), mRNA.	279					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(2)|stomach(1)	32						ACATTTGTAGGGTTTCTCTCC	0.373000														16			6		0	0	0.001168	0	0
TMCO3	55002	broad.mit.edu	37	13	114150193	114150193	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr13:114150193C>T	uc001vtu.4	+	1	658	c.297C>T	c.(295-297)ttC>ttT	p.F99F	TMCO3_uc001vtt.4_Silent_p.F99F	NM_017905	NP_060375	Q6UWJ1	TMCO3_HUMAN	Homo sapiens transmembrane and coiled-coil domains 3 (TMCO3), mRNA.	99						integral to membrane	solute:hydrogen antiporter activity			NS(1)|endometrium(4)|large_intestine(9)|liver(1)|lung(8)|prostate(1)|stomach(1)	25	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983)	all cancers(43;0.0317)			TTGAAATTTTCCAGAAAGAGC	0.458000														23			14		0	0	0.001855	0	0
LIPK	643414	broad.mit.edu	37	10	90503072	90503072	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:90503072C>T	uc010qmv.2	+	7	954	c.954C>T	c.(952-954)ttC>ttT	p.F318F		NM_001080518	NP_001073987	Q5VXJ0	LIPK_HUMAN	Homo sapiens lipase, family member K (LIPK), mRNA.	318					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)		TGATGCACTTCCATCAGGTAC	0.358000														15			5		0	0	0.001984	0	0
KDELR1	10945	broad.mit.edu	37	19	48887538	48887538	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:48887538G>A	uc002pjb.1	-	3	748	c.553C>T	c.(553-555)Ctg>Ttg	p.L185L	KDELR1_uc002pja.1_Silent_p.L123L	NM_006801	NP_006792	P24390	ERD21_HUMAN	Homo sapiens KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 1 (KDELR1), mRNA.	185					intracellular protein transport|protein retention in ER lumen|vesicle-mediated transport	ER-Golgi intermediate compartment|endoplasmic reticulum membrane|integral to membrane|membrane fraction	KDEL sequence binding|protein binding|receptor activity			NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|pancreas(1)|urinary_tract(1)	11		all_epithelial(76;2.48e-06)|all_lung(116;5.76e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Prostate(7;0.122)|Breast(70;0.203)		all cancers(93;0.000114)|OV - Ovarian serous cystadenocarcinoma(262;0.000136)|Epithelial(262;0.01)|GBM - Glioblastoma multiforme(486;0.0145)		GTCTGGACCAGGCCTGCCACA	0.527000														18			12		0	0	0.000978	0	0
STS	412	broad.mit.edu	37	X	7267936	7267936	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chrX:7267936C>T	uc004cry.4	+	9	1631	c.1386C>T	c.(1384-1386)tcC>tcT	p.S462S		NM_000351	NP_000342	P08842	STS_HUMAN	Homo sapiens steroid sulfatase (microsomal), isozyme S (STS), mRNA.	462					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)	CAGGCACATCCATCTGGAAGG	0.473000									Ichthyosis					33			42		0	0	0.003610	0	0
COL11A1	1301	broad.mit.edu	37	1	103467507	103467507	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:103467507C>T	uc001dum.3	-	23	2470	c.2152G>A	c.(2152-2154)Ggt>Agt	p.G718S	COL11A1_uc001duk.3_5'UTR|COL11A1_uc001dul.3_Missense_Mutation_p.G706S|COL11A1_uc001dun.3_Missense_Mutation_p.G667S|COL11A1_uc009weh.3_Missense_Mutation_p.G590S	NM_080629	NP_542196	P12107	COBA1_HUMAN	Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript variant B, mRNA.	706	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)		CCAATTGGACCTTGTGGACCA	0.348000														63			19		0	0	0.002299	0	0
OR4D2	124538	broad.mit.edu	37	17	56247444	56247444	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:56247444G>A	uc010wnp.2	+	0	428	c.428G>A	c.(427-429)gGg>gAg	p.G143E		NM_001004707	NP_001004707	P58180	OR4D2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 2 (OR4D2), mRNA.	143					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(1)|lung(19)|ovary(1)|skin(2)|stomach(1)	26						CTCTGGGTGGGGCTGGTGGTA	0.582000														44			9		0	0	0.004482	0	0
ABCA11P	79963	broad.mit.edu	37	4	435916	435916	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:435916G>A	uc003gaf.4	-	2	2662	c.2436C>T	c.(2434-2436)ccC>ccT	p.P812P	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.P780P|ABCA11P_uc010ibe.3_Silent_p.P768P	NM_133474	NP_597731			Homo sapiens zinc finger protein 721 (ZNF721), mRNA.																		TACATTTGTAGGGTTTCTTTC	0.353000														21			6		0	0	0.001168	0	0
NLRP7	199713	broad.mit.edu	37	19	55451699	55451699	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:55451699G>A	uc002qih.4	-	3	564	c.488C>T	c.(487-489)cCc>cTc	p.P163L	NLRP7_uc010esk.3_Missense_Mutation_p.P163L|NLRP7_uc002qig.4_Missense_Mutation_p.P163L|NLRP7_uc002qii.4_Missense_Mutation_p.P163L|NLRP7_uc010esl.3_Missense_Mutation_p.P191L	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN	Homo sapiens NLR family, pyrin domain containing 7 (NLRP7), transcript variant 2, mRNA.	163							ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		GGGTGTTCTGGGATTCAAGAA	0.517000														124			53		0	0	0.003610	0	0
TTC17	55761	broad.mit.edu	37	11	43469660	43469660	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:43469660C>T	uc001mxi.3	+	18	2844	c.2774C>T	c.(2773-2775)tCa>tTa	p.S925L	TTC17_uc010rfj.2_Missense_Mutation_p.S925L|TTC17_uc001mxl.3_5'Flank	NM_018259	NP_060729	Q96AE7	TTC17_HUMAN	Homo sapiens tetratricopeptide repeat domain 17 (TTC17), mRNA.	925							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						GCAGTTTCTTCAAAAAACATT	0.507000														23			12		0	0	0.001368	0	0
SLC9C1	285335	broad.mit.edu	37	3	111988878	111988878	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:111988878G>A	uc003dyu.3	-	6	882	c.660C>T	c.(658-660)ttC>ttT	p.F220F	SLC9C1_uc011bhu.2_Intron|SLC9C1_uc010hqc.3_Silent_p.F220F	NM_183061	NP_898884	Q4G0N8	S9A10_HUMAN	Homo sapiens solute carrier family 9, member 10 (SLC9A10), mRNA.	220					cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity										TTCCAAACAAGAAACTTGCTA	0.318000														126			45		0	0	0.003610	0	0
ZNF582	147948	broad.mit.edu	37	19	56895604	56895604	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:56895604G>A	uc002qmy.3	-	4	1568	c.1275C>T	c.(1273-1275)ccC>ccT	p.P425P	ZNF582_uc002qmz.1_Silent_p.P394P	NM_144690	NP_653291	Q96NG8	ZN582_HUMAN	Homo sapiens zinc finger protein 582 (ZNF582), mRNA.	394					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P394P(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0547)		TACATTGGTAGGGTTTCTCTC	0.423000														49			25		0	0	0.004656	0	0
CPA6	57094	broad.mit.edu	37	8	68658276	68658276	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:68658276C>G	uc003xxq.4	-	0	345	c.89G>C	c.(88-90)aGc>aCc	p.S30T	CPA6_uc003xxr.4_5'UTR|CPA6_uc003xxs.2_Missense_Mutation_p.S30T	NM_020361	NP_065094	Q8N4T0	CBPA6_HUMAN	Homo sapiens carboxypeptidase A6 (CPA6), mRNA.	30					proteolysis	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(5)	26			Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136)			ATAAAGGTGGCTGTGCCCCGG	0.532000														23			14		0	0	0.003163	0	0
MIA3	375056	broad.mit.edu	37	1	222802465	222802465	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:222802465C>T	uc001hnl.3	+	3	1912	c.1903C>T	c.(1903-1905)Cca>Tca	p.P635S	MIA3_uc009xea.1_Missense_Mutation_p.P471S	NM_198551	NP_940953	Q5JRA6	MIA3_HUMAN	Homo sapiens melanoma inhibitory activity family, member 3 (MIA3), mRNA.	635					exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		ATTCTCCTCTCCAGATGAGAT	0.463000														280			115		0	0	0.003610	0	0
ZNF704	619279	broad.mit.edu	37	8	81582739	81582739	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:81582739C>T	uc003yby.2	-	5	891	c.659_splice	c.e5+1	p.G220_splice		NM_001033723	NP_001028895	Q6ZNC4	ZN704_HUMAN	Homo sapiens zinc finger protein 704 (ZNF704), mRNA.	220						intracellular	zinc ion binding			lung(9)|skin(1)|upper_aerodigestive_tract(1)	11	all_cancers(3;8.53e-08)|all_epithelial(4;4.59e-10)|Breast(3;2.56e-06)|Lung NSC(7;2.58e-06)|all_lung(9;9.4e-06)		BRCA - Breast invasive adenocarcinoma(6;0.00401)|Epithelial(68;0.00448)|all cancers(69;0.0277)			CTGCCTTACCCCAGATGGATG	0.522000														64			11		0	0	0.000978	0	0
HOXB3	3213	broad.mit.edu	37	17	46628315	46628315	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:46628315T>C	uc002inn.3	-	1	1077	c.677A>G	c.(676-678)aAc>aGc	p.N226S	HOXB3_uc010wlm.2_Missense_Mutation_p.N153S|HOXB3_uc010dbf.3_Missense_Mutation_p.N226S|HOXB3_uc010dbg.3_Missense_Mutation_p.N226S|HOXB3_uc002ino.3_Missense_Mutation_p.N226S|HOXB3_uc010wlk.2_Missense_Mutation_p.N94S|HOXB3_uc010wll.2_Missense_Mutation_p.N153S	NM_002146	NP_002137	P14651	HXB3_HUMAN	Homo sapiens homeobox B3 (HOXB3), mRNA.	226					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1)	30						CTCGCTGAGGTTCAGCAGGTT	0.607000														69			21		0	0	0.003954	0	0
PEAK1	79834	broad.mit.edu	37	15	77425472	77425472	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:77425472G>A	uc021sqy.1	-	6	4528	c.3952C>T	c.(3952-3954)Cgt>Tgt	p.R1318C		NM_024776	NP_079052	Q9H792	PEAK1_HUMAN	Homo sapiens NKF3 kinase family member (PEAK1), mRNA.	1318	Protein kinase.				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										ACTCCAAAACGGAGCTGGTCT	0.468000														48			32		0	0	0.002836	0	0
CDC5L	988	broad.mit.edu	37	6	44371580	44371580	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:44371580C>T	uc003oxl.3	+	5	884	c.574C>T	c.(574-576)Cga>Tga	p.R192*		NM_001253	NP_001244	Q99459	CDC5L_HUMAN	Homo sapiens CDC5 cell division cycle 5-like (S. pombe) (CDC5L), mRNA.	192					cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|cytoplasm|nuclear speck|nucleolus	DNA binding|RNA binding	p.L191L(1)|p.L191R(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(4)	29	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			AAGAGAACTTCGAGCAGCTGG	0.378000														46			20		0	0	0.002780	0	0
DNAH2	146754	broad.mit.edu	37	17	7691316	7691316	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:7691316G>A	uc002giu.1	+	42	6755	c.6741_splice	c.e42+1	p.K2247_splice		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	2247	AAA 2 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				GAGGCCAAAGGTATGAAGGGA	0.562000														41			20		0	0	0.001523	0	0
DPYD	1806	broad.mit.edu	37	1	97658667	97658667	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:97658667C>T	uc001drv.3	-	19	2717	c.2580G>A	c.(2578-2580)caG>caA	p.Q860Q		NM_000110	NP_000101	Q12882	DPYD_HUMAN	Homo sapiens dihydropyrimidine dehydrogenase (DPYD), transcript variant 1, mRNA.	860					'de novo' pyrimidine base biosynthetic process|UMP biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|NADP binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	GTTTCCCTTTCTGGTGACTCA	0.448000														57			36		0	0	0.006999	0	0
DNAJC10	54431	broad.mit.edu	37	2	183601005	183601005	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:183601005C>T	uc002uow.1	+	10	1294	c.879C>T	c.(877-879)gaC>gaT	p.D293D	DNAJC10_uc002uox.1_Non-coding_Transcript|DNAJC10_uc002uoy.1_Non-coding_Transcript|DNAJC10_uc002uoz.1_Intron|DNAJC10_uc010fro.1_Intron	NM_018981	NP_061854	Q8IXB1	DJC10_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 10 (DNAJC10), mRNA.	293					ER-associated protein catabolic process|apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|glycerol ether metabolic process|negative regulation of protein phosphorylation|protein folding|response to endoplasmic reticulum stress	endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|extracellular region	ATPase activator activity|ATPase binding|chaperone binding|electron carrier activity|heat shock protein binding|misfolded protein binding|protein disulfide oxidoreductase activity|unfolded protein binding			breast(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(15)|ovary(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			GATGGATGGACTGTGCCACCC	0.363000														57			20		0	0	0.001882	0	0
DOCK3	1795	broad.mit.edu	37	3	51297746	51297746	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:51297746C>T	uc011bds.2	+	22	2367	c.2344C>T	c.(2344-2346)Ctt>Ttt	p.L782F		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	Homo sapiens dedicator of cytokinesis 3 (DOCK3), mRNA.	782						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)		AGAAACACTCCTTTTTACTCA	0.468000														7			27		0	0	0.003755	0	0
LILRP2	79166	broad.mit.edu	37	19	55224626	55224626	+	RNA	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:55224626G>A	uc002qgs.1	+	0		c.5026G>A			LILRP2_uc002qgt.1_Non-coding_Transcript					Homo sapiens leukocyte immunoglobulin-like receptor pseudogene 2 (LILRP2), non-coding RNA.																		ACACAGTGGAGAATCTCATCC	0.582000														14			4		0	0	0.000602	0	0
LRP1B	53353	broad.mit.edu	37	2	141528474	141528474	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:141528474G>A	uc002tvj.1	-	33	6574	c.5602C>T	c.(5602-5604)Caa>Taa	p.Q1868*		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	1868	EGF-like 4.				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)		CGGTTCTTTTGGAGATAATAT	0.383000										TSP Lung(27;0.18)				78			29		0	0	0.002096	0	0
IGF1	3479	broad.mit.edu	37	12	102813396	102813396	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:102813396C>T	uc001tjp.4	-	2	512	c.293G>A	c.(292-294)cGg>cAg	p.R98Q	IGF1_uc001tjn.2_Missense_Mutation_p.R82Q|IGF1_uc001tjm.2_Missense_Mutation_p.R98Q|IGF1_uc001tjo.2_Missense_Mutation_p.R98Q	NM_001111285	NP_001104755	P05019	IGF1_HUMAN	Homo sapiens insulin-like growth factor 1 (somatomedin C) (IGF1), transcript variant 3, mRNA.	98	A.				DNA replication|Ras protein signal transduction|anti-apoptosis|bone mineralization involved in bone maturation|cellular component movement|glycolate metabolic process|muscle hypertrophy|myoblast differentiation|myoblast proliferation|myotube cell development|negative regulation of smooth muscle cell apoptosis|phosphatidylinositol-mediated signaling|platelet activation|platelet degranulation|positive regulation of DNA replication|positive regulation of Ras protein signal transduction|positive regulation of activated T cell proliferation|positive regulation of epithelial cell proliferation|positive regulation of fibroblast proliferation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis|positive regulation of osteoblast differentiation|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tyrosine phosphorylation of Stat5 protein|regulation of multicellular organism growth|satellite cell maintenance involved in skeletal muscle regeneration	platelet alpha granule lumen	growth factor activity|hormone activity|insulin receptor binding|insulin-like growth factor receptor binding|integrin binding	p.R98Q(3)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)	11						ATCACAGCTCCGGAAGCAGCA	0.597000														32			14		0	0	0.004007	0	0
SERPINB3	6317	broad.mit.edu	37	18	61308225	61308225	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr18:61308225C>T	uc002ljf.3	-	5	438	c.352_splice	c.e5-1	p.E118_splice	SERPINB3_uc002lje.3_Splice_Site_p.E118_splice|SERPINB3_uc002ljg.3_Intron	NM_002974	NP_002965	P29508	SPB3_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 4 (SERPINB4), mRNA.	118					regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						TCTAAATATTCCTTTGAGATA	0.343000														55			19		0	0	0.002780	0	0
DNAH10	196385	broad.mit.edu	37	12	124257439	124257439	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:124257439C>T	uc001uft.4	+	3	297	c.272C>T	c.(271-273)cCc>cTc	p.P91L		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	91	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.Q90H(1)		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)		ACCCCTCTTCCCGAGGAGTTC	0.458000														97			43		0	0	0.003610	0	0
ZNF676	163223	broad.mit.edu	37	19	22363492	22363492	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:22363492C>T	uc002nqs.1	-	2	1345	c.1027G>A	c.(1027-1029)Ggg>Agg	p.G343R		NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN	Homo sapiens zinc finger protein 676 (ZNF676), mRNA.	343					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G343A(1)		NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				AAAGCTTTCCCGCATTCTTCA	0.408000														39			12		0	0	0.003163	0	0
ABCA9	10350	broad.mit.edu	37	17	66986042	66986042	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:66986042C>T	uc002jhu.3	-	29	4010	c.3867G>A	c.(3865-3867)cgG>cgA	p.R1289R	ABCA9_uc010dez.3_Silent_p.R1251R	NM_080283	NP_525022	Q8IUA7	ABCA9_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 9 (ABCA9), mRNA.	1289	ABC transporter 2.				transport	integral to membrane	ATP binding|ATPase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					CATATTCCTTCCGTAGACAGC	0.378000														48			15		0	0	0.006122	0	0
OR52E8	390079	broad.mit.edu	37	11	5878024	5878024	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:5878024C>T	uc010qzr.2	-	0	909	c.909G>A	c.(907-909)caG>caA	p.Q303Q	TRIM5_uc001mbq.1_Intron	NM_001005168	NP_001005168	Q6IFG1	O52E8_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily E, member 8 (OR52E8), mRNA.	303					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114)		Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCTCTCGAATCTGCTTTGTCC	0.423000														125			43		0	0	0.003610	0	0
PODXL	5420	broad.mit.edu	37	7	131189150	131189150	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:131189150C>T	uc003vqw.4	-	8	1855	c.1597G>A	c.(1597-1599)Gag>Aag	p.E533K	PODXL_uc003vqx.4_Missense_Mutation_p.E501K	NM_001018111	NP_001018121	O00592	PODXL_HUMAN	Homo sapiens podocalyxin-like (PODXL), transcript variant 1, mRNA.	533					cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly	actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Melanoma(18;0.162)					TCCCCCAGCTCCCCGTTGAGG	0.577000														67			22		0	0	0.002299	0	0
ADAM32	203102	broad.mit.edu	37	8	39068812	39068812	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:39068812G>A	uc003xmt.4	+	11	1447	c.1202G>A	c.(1201-1203)gGa>gAa	p.G401E	ADAM32_uc011lch.2_Intron|ADAM32_uc003xmu.4_Intron	NM_145004	NP_659441	Q8TC27	ADA32_HUMAN	Homo sapiens ADAM metallopeptidase domain 32 (ADAM32), mRNA.	401	Disintegrin.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	31		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)			AGATTGGAGGGAAATGAAATC	0.318000														9			7		0	0	0.001984	0	0
EPYC	1833	broad.mit.edu	37	12	91366696	91366696	+	Silent	SNP	T	C	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:91366696T>C	uc001tbk.3	-	3	495	c.402A>G	c.(400-402)gaA>gaG	p.E134E		NM_004950	NP_004941	Q99645	EPYC_HUMAN	Homo sapiens epiphycan (EPYC), mRNA.	134	LRRNT.				female pregnancy	proteinaceous extracellular matrix	glycosaminoglycan binding			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|skin(2)	18						TAGCATCAAGTTCATGGTCAT	0.353000														87			38		0	0	0.003214	0	0
PAX6	5080	broad.mit.edu	37	11	31815066	31815066	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:31815066T>C	uc009yjr.3	-	10	1421	c.952A>G	c.(952-954)Aca>Gca	p.T318A	PAX6_uc001mtd.4_Missense_Mutation_p.T318A|PAX6_uc001mte.4_Missense_Mutation_p.T318A|PAX6_uc001mtg.4_Missense_Mutation_p.T332A|PAX6_uc001mtf.4_Missense_Mutation_p.T318A|PAX6_uc001mth.4_Missense_Mutation_p.T318A|PAX6_uc021qfl.1_Missense_Mutation_p.T332A|PAX6_uc021qfm.1_Missense_Mutation_p.T332A|PAX6_uc021qfn.1_Missense_Mutation_p.T318A	NM_001127612	NP_001121084	P26367	PAX6_HUMAN	Homo sapiens paired box 6 (PAX6), transcript variant 3, mRNA.	318	Pro/Ser/Thr-rich.				blood vessel development|central nervous system development|cornea development in camera-type eye|glucose homeostasis|iris morphogenesis|negative regulation of neurogenesis|neuron fate commitment|pancreatic A cell development|positive regulation of transcription, DNA-dependent|response to wounding|visual perception	cytoplasm|nuclear chromatin	R-SMAD binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|ubiquitin-protein ligase activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)	35	Lung SC(675;0.225)					GCTGTGTCTGTTCGGCCCAAC	0.537000									Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation					76			41		0	0	0.002222	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140778870	140778870	+	Silent	SNP	T	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:140778870T>A	uc003lkf.2	+	0	1176	c.1176T>A	c.(1174-1176)tcT>tcA	p.S392S	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_uc011daw.2_Silent_p.S392S	NM_018925	NP_061748	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 5 (PCDHGB5), transcript variant 1, mRNA.	398	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)			AGATTATCTCTTCATCCAAAA	0.428000														26			14		0	0	0.001855	0	0
CNGB3	54714	broad.mit.edu	37	8	87616323	87616323	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:87616323G>A	uc003ydx.3	-	14	1827	c.1779C>T	c.(1777-1779)atC>atT	p.I593I	CNGB3_uc010maj.3_Intron	NM_019098	NP_061971	Q9NQW8	CNGB3_HUMAN	Homo sapiens cyclic nucleotide gated channel beta 3 (CNGB3), mRNA.	593					signal transduction|visual perception	integral to membrane	cGMP binding			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						TCAGATACCTGATTTCTCCAA	0.373000														23			9		0	0	0.006214	0	0
TLR1	7096	broad.mit.edu	37	4	38798250	38798250	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:38798250G>A	uc003gtl.3	-	3	2477	c.2203C>T	c.(2203-2205)Ccg>Tcg	p.P735S	TLR1_uc021xnn.1_Missense_Mutation_p.P735S	NM_003263	NP_003254	Q15399	TLR1_HUMAN	Homo sapiens toll-like receptor 1 (TLR1), mRNA.	735	TIR.				cellular response to triacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|inflammatory response|innate immune response|macrophage activation|positive regulation of interleukin-6 biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	Toll-like receptor 1-Toll-like receptor 2 protein complex|integral to plasma membrane|phagocytic vesicle membrane	protein heterodimerization activity|transmembrane receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2)	28						GAGTACTGCGGAATGGGTTCC	0.443000														65			21		0	0	0.001882	0	0
NFATC2	4773	broad.mit.edu	37	20	50140318	50140318	+	Silent	SNP	G	C	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr20:50140318G>C	uc002xwd.3	-	1	682	c.462C>G	c.(460-462)ccC>ccG	p.P154P	NFATC2_uc002xwc.3_Silent_p.P154P|NFATC2_uc010zyv.2_Intron|NFATC2_uc010zyw.2_Intron|NFATC2_uc002xwe.3_Silent_p.P134P|NFATC2_uc010zyx.2_Silent_p.P134P|NFATC2_uc010zyy.2_Intron|NFATC2_uc010zyz.2_Intron	NM_173091	NP_775114	Q13469	NFAC2_HUMAN	Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 (NFATC2), transcript variant 2, mRNA.	154	Trans-activation domain A (TAD-A).				B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					AGCCGGGCACGGGCAGGGTGA	0.697000														5			13		0	0	0.001368	0	0
SCUBE3	222663	broad.mit.edu	37	6	35212515	35212515	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:35212515G>A	uc003okf.1	+	17	2334	c.2328G>A	c.(2326-2328)caG>caA	p.Q776Q	SCUBE3_uc003okg.1_Silent_p.Q775Q|SCUBE3_uc003okh.1_Silent_p.Q663Q	NM_152753	NP_689966	Q8IX30	SCUB3_HUMAN	Homo sapiens signal peptide, CUB domain, EGF-like 3 (SCUBE3), mRNA.	776					protein heterooligomerization|protein homooligomerization	cell surface|extracellular region	calcium ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	37						ACTTCCGTCAGAACTTCTGCA	0.562000														72			31		0	0	0.003271	0	0
COBL	23242	broad.mit.edu	37	7	51096964	51096964	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:51096964C>T	uc003tps.3	-	10	2185	c.2000G>A	c.(1999-2001)gGa>gAa	p.G667E	COBL_uc003tpr.4_Missense_Mutation_p.G610E|COBL_uc011kcl.2_Missense_Mutation_p.G610E|COBL_uc003tpp.4_Missense_Mutation_p.G396E|COBL_uc003tpq.4_Missense_Mutation_p.G551E|COBL_uc003tpo.4_Missense_Mutation_p.G152E	NM_015198	NP_056013	O75128	COBL_HUMAN	Homo sapiens cordon-bleu homolog (mouse) (COBL), mRNA.	610										NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					CACACGGATTCCTTTTCCGAC	0.532000														27			14		0	0	0.002450	0	0
PTPRD	5789	broad.mit.edu	37	9	8524996	8524996	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:8524996C>T	uc003zkk.3	-	17	1351	c.608G>A	c.(607-609)gGa>gAa	p.G203E	PTPRD_uc003zkp.3_Missense_Mutation_p.G203E|PTPRD_uc003zkq.3_Missense_Mutation_p.G203E|PTPRD_uc003zkr.3_Missense_Mutation_p.G197E|PTPRD_uc003zks.3_Missense_Mutation_p.G197E|PTPRD_uc022bdj.1_Missense_Mutation_p.G200E	NM_002839	NP_002830	P23468	PTPRD_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA.	203	Ig-like C2-type 2.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		CTCATATTTTCCTTGGTCAGA	0.453000										TSP Lung(15;0.13)				123			44		0	0	0.003610	0	0
SEMA5B	54437	broad.mit.edu	37	3	122632266	122632266	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:122632266G>A	uc003efz.1	-	16	2590	c.2286C>T	c.(2284-2286)ttC>ttT	p.F762F	SEMA5B_uc011bju.1_Silent_p.F704F|SEMA5B_uc003ega.1_Non-coding_Transcript|SEMA5B_uc003egb.1_Silent_p.F762F|SEMA5B_uc010hro.1_Silent_p.F704F|SEMA5B_uc003efy.1_5'Flank	NM_001031702	NP_001026872	Q9P283	SEM5B_HUMAN	Homo sapiens sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B (SEMA5B), transcript variant 1, mRNA.	762	TSP type-1 2.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		TGCACGTCTTGAACTCCTGCG	0.726000														9			4		0	0	0.000602	0	0
MRC2	9902	broad.mit.edu	37	17	60754832	60754832	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:60754832C>T	uc002jad.3	+	11	2439	c.2037C>T	c.(2035-2037)ctC>ctT	p.L679L	MRC2_uc010ddq.1_Non-coding_Transcript	NM_006039	NP_006030	Q9UBG0	MRC2_HUMAN	Homo sapiens mannose receptor, C type 2 (MRC2), mRNA.	679	C-type lectin 4.				endocytosis	integral to membrane	receptor activity|sugar binding	p.K678N(2)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						ACACCAAACTCCGGTATTGCT	0.657000														16			12		0	0	0.000978	0	0
C20orf166-AS1	253868	broad.mit.edu	37	20	61143663	61143663	+	RNA	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr20:61143663C>T	uc021wfy.1	-	0		c.220G>A			C20orf166-AS1_uc002ycy.3_Non-coding_Transcript|C20orf166-AS1_uc002ycz.2_Non-coding_Transcript					Homo sapiens chromosome 20 open reading frame 200, mRNA (cDNA clone MGC:120891 IMAGE:7939701), complete cds.																		ATCAGATGGTCCTTCCCGGCA	0.672000														42			15		0	0	0.004990	0	0
SLC8A2	6543	broad.mit.edu	37	19	47940789	47940789	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:47940789C>T	uc010ele.3	-	6	2056	c.2040G>A	c.(2038-2040)acG>acA	p.T680T	SLC8A2_uc002pgx.3_Silent_p.T680T|SLC8A2_uc010xyq.2_Silent_p.T436T|SLC8A2_uc010xyr.2_Silent_p.T143T			Q9UPR5	NAC2_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 2 (SLC8A2), mRNA.	680					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		AGGCCAAGTTCGTTTTCTTGA	0.547000														60			17		0	0	0.001523	0	0
PLA2G4F	255189	broad.mit.edu	37	15	42438008	42438008	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:42438008C>T	uc001zoz.3	-	14	1720	c.1628G>A	c.(1627-1629)cGa>cAa	p.R543Q	PLA2G4F_uc010bcq.3_5'Flank|PLA2G4F_uc001zoy.3_Missense_Mutation_p.R175Q|PLA2G4F_uc001zpa.3_Missense_Mutation_p.R294Q|PLA2G4F_uc010bcr.3_Missense_Mutation_p.R294Q|PLA2G4F_uc010bcs.3_Missense_Mutation_p.R330Q	NM_213600	NP_998765	Q68DD2	PA24F_HUMAN	Homo sapiens phospholipase A2, group IVF (PLA2G4F), transcript variant 1, mRNA.	543	PLA2c.				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.97e-07)		CTGCAGCAATCGTCCCATGAA	0.622000														34			12		0	0	0.001368	0	0
APOB	338	broad.mit.edu	37	2	21239410	21239410	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:21239410C>T	uc002red.3	-	20	3361	c.3233G>A	c.(3232-3234)aGa>aAa	p.R1078K		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	1078					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)	ATCATTAACTCTGAGGATTGT	0.448000														320			143		0	0	0.003610	0	0
SPRR3	6707	broad.mit.edu	37	1	152975872	152975872	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:152975872C>T	uc021ozo.1	+	0	376	c.376C>T	c.(376-378)Cct>Tct	p.P126S	SPRR3_uc001fax.4_Missense_Mutation_p.P126S|SPRR3_uc001faz.4_Missense_Mutation_p.P126S|SPRR3_uc001fay.2_Missense_Mutation_p.P118S	NM_005416	NP_005407	Q9UBC9	SPRR3_HUMAN	Homo sapiens small proline-rich protein 3 (SPRR3), transcript variant 1, mRNA.	126	14 X 8 AA approximate tandem repeats.				keratinization|peptide cross-linking|wound healing	cytoplasm	protein binding|structural molecule activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	11	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CATCAAGTTTCCTGAGCCAGG	0.552000														25			13		0	0	0.002450	0	0
INSIG1	3638	broad.mit.edu	37	7	155094039	155094039	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:155094039C>T	uc003wly.3	+	3	827	c.616C>T	c.(616-618)Cgt>Tgt	p.R206C	INSIG1_uc003wlz.3_Intron|INSIG1_uc011kvu.2_Missense_Mutation_p.R54C	NM_005542	NP_005533	O15503	INSI1_HUMAN	Homo sapiens insulin induced gene 1 (INSIG1), transcript variant 1, mRNA.	206					ER-nuclear sterol response pathway|cell proliferation	endoplasmic reticulum membrane|integral to membrane	protein binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(11)|prostate(1)|upper_aerodigestive_tract(2)	19	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GACATTTGATCGTTCCAGAAG	0.443000														38			21		0	0	0.001523	0	0
C17orf74	201243	broad.mit.edu	37	17	7330552	7330552	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:7330552G>A	uc002ggw.3	+	2	1315	c.1242G>A	c.(1240-1242)cgG>cgA	p.R414R	SPEM1_uc010vtw.1_Intron	NM_175734	NP_783861	Q0P670	CQ074_HUMAN	Homo sapiens chromosome 17 open reading frame 74 (C17orf74), mRNA.	414						integral to membrane		p.R414W(1)		cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	22		Prostate(122;0.157)				CCCATCAACGGACCCCAGCTC	0.677000														18			12		0	0	0.003163	0	0
CTNNA3	29119	broad.mit.edu	37	10	67862957	67862957	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:67862957G>A	uc009xpn.1	-	13	2058	c.1935C>T	c.(1933-1935)gtC>gtT	p.V645V	CTNNA3_uc001jmw.2_Silent_p.V645V	NM_001127384	NP_037398	Q9UI47	CTNA3_HUMAN	Homo sapiens catenin (cadherin-associated protein), alpha 3 (CTNNA3), transcript variant 2, mRNA.	645					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						TGTGACTGCGGACCTCGTGTT	0.468000														62			16		0	0	0.006122	0	0
ABR	29	broad.mit.edu	37	17	975864	975864	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:975864G>A	uc002fsd.3	-	7	994	c.884C>T	c.(883-885)cCc>cTc	p.P295L	ABR_uc002fse.3_Missense_Mutation_p.P249L|ABR_uc010vqg.2_Missense_Mutation_p.P77L|ABR_uc002fsg.3_Missense_Mutation_p.P258L|ABR_uc002fsh.1_Missense_Mutation_p.P179L	NM_021962	NP_001153218	Q12979	ABR_HUMAN	Homo sapiens active BCR-related gene (ABR), transcript variant 1, mRNA.	295					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39				UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)		CTCCCCCTTGGGCGTTGTCAC	0.657000														6			6		0	0	0.001984	0	0
KRT86	3892	broad.mit.edu	37	12	52699157	52699158	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:52699157_52699158GG>AA	uc010snq.2	+	5	1002_1003	c.869_870GG>AA	c.(868-870)cgg>cAA	p.R290Q	KRT86_uc009zmg.3_Missense_Mutation_p.R290Q|KRT81_uc001sac.3_Intron|KRT86_uc001sad.3_Missense_Mutation_p.R290Q	NM_002284	NP_002275	O43790	KRT86_HUMAN	Homo sapiens keratin 86 (KRT86), mRNA.	290	Coil 2.|Rod.				cytoskeleton organization	keratin filament	structural molecule activity			breast(1)|cervix(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(357;0.189)		ACCCGTAGCCGGGCTGAGGCCG	0.550000														42			18		0	0	0.004672	0	0
C12orf56	115749	broad.mit.edu	37	12	64697548	64697548	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:64697548T>A	uc021qzu.1	-	5	980	c.980A>T	c.(979-981)aAa>aTa	p.K327I	BC042855_uc001srx.3_Intron|C12orf56_uc001ssa.4_Missense_Mutation_p.K167I	NM_001170633	NP_001164104	Q8IXR9	CL056_HUMAN	Homo sapiens chromosome 12 open reading frame 56 (C12orf56), transcript variant 1, mRNA.	330										NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)	15			GBM - Glioblastoma multiforme(3;0.000582)	GBM - Glioblastoma multiforme(28;0.0259)		GTGCTTAATTTTCTCCTCAGA	0.323000														21			5		0	0	0.000602	0	0
MYOC	4653	broad.mit.edu	37	1	171605844	171605844	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:171605844C>T	uc001ghu.3	-	2	758	c.736G>A	c.(736-738)Gga>Aga	p.G246R	MYOC_uc010pmk.2_Missense_Mutation_p.G188R	NM_000261	NP_000252	Q99972	MYOC_HUMAN	Homo sapiens myocilin, trabecular meshwork inducible glucocorticoid response (MYOC), mRNA.	246	Olfactomedin-like.		G -> R (in GLC1A).		anatomical structure morphogenesis	cilium|extracellular space|rough endoplasmic reticulum	structural molecule activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(1)|urinary_tract(2)	28	all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					ACTAGTTCTCCACATCCTGGT	0.473000														46			29		0	0	0.008361	0	0
OR4N5	390437	broad.mit.edu	37	14	20612398	20612398	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:20612398C>T	uc010tla.2	+	0	504	c.504C>T	c.(502-504)ttC>ttT	p.F168F		NM_001004724	NP_001004724	Q8IXE1	OR4N5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily N, member 5 (OR4N5), mRNA.	168					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)		ACTTGCCTTTCTGTGGCCCAA	0.493000														71			36		0	0	0.005524	0	0
NSRP1	84081	broad.mit.edu	37	17	28505103	28505103	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:28505103C>T	uc002heu.3	+	3	214	c.186C>T	c.(184-186)atC>atT	p.I62I	NSRP1_uc002hev.3_Silent_p.I8I|NSRP1_uc010wbl.2_Silent_p.I8I|NSRP1_uc010wbm.2_Silent_p.I8I|NSRP1_uc002hex.3_Silent_p.I8I	NM_032141	NP_115517	Q9H0G5	NSRP1_HUMAN	Homo sapiens nuclear speckle splicing regulatory protein 1 (NSRP1), transcript variant 1, mRNA.	62					developmental process|nucleocytoplasmic transport|regulation of alternative nuclear mRNA splicing, via spliceosome	nuclear speck|ribonucleoprotein complex	mRNA binding|protein binding			autonomic_ganglia(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	14						AACTGGAAATCCAGAAGGCCC	0.323000														40			24		0	0	0.003330	0	0
PROSER1	80209	broad.mit.edu	37	13	39602369	39602369	+	Nonsense_Mutation	SNP	C	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr13:39602369C>A	uc001uwy.3	-	4	1237	c.364G>T	c.(364-366)Gaa>Taa	p.E122*	PROSER1_uc001uwz.3_Nonsense_Mutation_p.E100*	NM_025138	NP_079414	Q86XN7	CM023_HUMAN	Homo sapiens proline and serine rich 1 (PROSER1), transcript variant 1, mRNA.	122																	ACTACCTGTTCAAGTATTCTC	0.353000														15			7		8.12818e-05	9.76994e-05	0.001984	1	0
CD86	942	broad.mit.edu	37	3	121825191	121825191	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:121825191G>A	uc003eet.3	+	3	675	c.547G>A	c.(547-549)Gat>Aat	p.D183N	CD86_uc011bjo.2_Missense_Mutation_p.D101N|CD86_uc011bjp.2_Missense_Mutation_p.D71N|CD86_uc003eeu.3_Missense_Mutation_p.D177N|CD86_uc021xcz.1_Missense_Mutation_p.D177N	NM_175862	NP_008820	P42081	CD86_HUMAN	Homo sapiens CD86 molecule (CD86), transcript variant 1, mRNA.	183	Ig-like C2-type.				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)	TATCGAGTATGATGGTGTTAT	0.383000														53			42		0	0	0.003214	0	0
ATM	472	broad.mit.edu	37	11	108175548	108175548	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:108175548C>T	uc001pkb.1	+	36	6028	c.5643C>T	c.(5641-5643)agC>agT	p.S1881S	ATM_uc009yxr.1_Silent_p.S1881S|ATM_uc001pke.2_Silent_p.S533S|ATM_uc001pkg.1_Silent_p.S238S|ATM_uc009yxt.1_Missense_Mutation_p.P25S	NM_000051	NP_000042	Q13315	ATM_HUMAN	Homo sapiens ataxia telangiectasia mutated (ATM), mRNA.	1881					DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2/M transition DNA damage checkpoint|cell cycle arrest|cellular response to gamma radiation|double-strand break repair via homologous recombination|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein N-terminus binding|protein complex binding|protein dimerization activity			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		CGCAAACGAGCCGATCCACAA	0.363000			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)				31			13		0	0	0.001368	0	0
ATHL1	80162	broad.mit.edu	37	11	293452	293452	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:293452C>T	uc010qvu.2	+	8	1545	c.1430C>T	c.(1429-1431)cCc>cTc	p.P477L	ATHL1_uc001lor.4_Intron|ATHL1_uc001los.1_Missense_Mutation_p.P504L|ATHL1_uc001lou.4_Missense_Mutation_p.P52L|ATHL1_uc001lov.4_5'Flank	NM_025092	NP_079368	Q32M88	ATHL1_HUMAN	Homo sapiens ATH1, acid trehalase-like 1 (yeast) (ATHL1), mRNA.	477					carbohydrate metabolic process		hydrolase activity, acting on glycosyl bonds			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|skin(3)	17		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;5.38e-28)|Epithelial(43;3.25e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)		ATCAAGGTACCCTTTGACGTG	0.632000														31			13		0	0	0.001855	0	0
GIMAP8	155038	broad.mit.edu	37	7	150174578	150174578	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:150174578C>T	uc003whj.3	+	4	2038	c.1708C>T	c.(1708-1710)Cta>Tta	p.L570L		NM_175571	NP_783161	Q8ND71	GIMA8_HUMAN	Homo sapiens GTPase, IMAP family member 8 (GIMAP8), mRNA.	570						Golgi apparatus|endoplasmic reticulum|mitochondrion	GTP binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		GAAGGAAGACCTAGGGGCGGG	0.468000														66			23		0	0	0.005443	0	0
GPRC5C	55890	broad.mit.edu	37	17	72436201	72436201	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:72436201G>A	uc002jkp.3	+	1	932	c.421G>A	c.(421-423)Ggg>Agg	p.G141R	GPRC5C_uc002jkq.3_Intron|GPRC5C_uc002jkr.3_Missense_Mutation_p.G108R|GPRC5C_uc002jkt.3_Missense_Mutation_p.G96R	NM_022036	NP_071319	Q9NQ84	GPC5C_HUMAN	Homo sapiens G protein-coupled receptor, family C, group 5, member C (GPRC5C), transcript variant 1, mRNA.	96						cytoplasmic vesicle membrane|integral to plasma membrane	G-protein coupled receptor activity|protein binding			central_nervous_system(1)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	17						CTTCCTTCTGGGGACCCTGGG	0.597000														42			32		0	0	0.002445	0	0
SPATA5	166378	broad.mit.edu	37	4	123855400	123855400	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:123855400C>T	uc003iez.4	+	4	727	c.654C>T	c.(652-654)gcC>gcT	p.A218A	SPATA5_uc003iey.3_Silent_p.A217A	NM_145207	NP_660208	Q8NB90	SPAT5_HUMAN	Homo sapiens spermatogenesis associated 5 (SPATA5), mRNA.	218					cell differentiation|multicellular organismal development|spermatogenesis	mitochondrion	ATP binding|nucleoside-triphosphatase activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						AAAGAATGGCCTTTGAACAGT	0.498000														41			22		0	0	0.002780	0	0
SCN7A	6332	broad.mit.edu	37	2	167262858	167262858	+	Silent	SNP	A	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:167262858A>T	uc002udu.2	-	24	4411	c.4281T>A	c.(4279-4281)ctT>ctA	p.L1427L	SCN7A_uc010fpm.2_Non-coding_Transcript	NM_002976	NP_002967	Q01118	SCN7A_HUMAN	Homo sapiens sodium channel, voltage-gated, type VII, alpha (SCN7A), transcript variant 1, mRNA.	1427					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						CAACTTGAAAAAGACAGAGCA	0.363000														142			71		0	0	0.003610	0	0
DNAH9	1770	broad.mit.edu	37	17	11840836	11840836	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:11840836A>T	uc002gne.3	+	65	12725	c.12657A>T	c.(12655-12657)gaA>gaT	p.E4219D	DNAH9_uc010coo.3_Missense_Mutation_p.E3437D|DNAH9_uc002gnf.3_Missense_Mutation_p.E531D	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	4219					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)		CAAGAGAAGAAAAGGTGTGTG	0.592000														18			5		0	0	0.001984	0	0
TCF7L2	6934	broad.mit.edu	37	10	114901043	114901043	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:114901043C>T	uc021pyi.1	+	5	1160	c.653C>T	c.(652-654)cCa>cTa	p.P218L	TCF7L2_uc001lah.3_Missense_Mutation_p.P195L|TCF7L2_uc010qro.2_Missense_Mutation_p.P195L|TCF7L2_uc001lae.4_Missense_Mutation_p.P218L|TCF7L2_uc010qrm.2_Missense_Mutation_p.P218L|TCF7L2_uc010qrn.2_Missense_Mutation_p.P161L|TCF7L2_uc021pyg.1_5'UTR|TCF7L2_uc021pyh.1_Missense_Mutation_p.P195L|TCF7L2_uc021pyj.1_Missense_Mutation_p.P218L|TCF7L2_uc021pyk.1_Missense_Mutation_p.P195L|TCF7L2_uc021pyl.1_Missense_Mutation_p.P195L|TCF7L2_uc010qrp.2_Missense_Mutation_p.P195L|TCF7L2_uc021pym.1_Missense_Mutation_p.P195L|TCF7L2_uc021pyn.1_Missense_Mutation_p.P218L|TCF7L2_uc021pyo.1_Missense_Mutation_p.P218L|TCF7L2_uc021pyp.1_Missense_Mutation_p.P218L|TCF7L2_uc010qrq.2_Missense_Mutation_p.P195L|TCF7L2_uc001lac.4_Missense_Mutation_p.P195L|TCF7L2_uc010qrk.2_Missense_Mutation_p.P195L|TCF7L2_uc001lad.4_Missense_Mutation_p.P195L|TCF7L2_uc001lag.4_Missense_Mutation_p.P242L|TCF7L2_uc001laf.4_Missense_Mutation_p.P195L|TCF7L2_uc010qrl.2_Missense_Mutation_p.P195L|TCF7L2_uc010qrr.2_Missense_Mutation_p.P137L|TCF7L2_uc010qrs.2_Missense_Mutation_p.P89L|TCF7L2_uc010qrt.2_Missense_Mutation_p.P89L|TCF7L2_uc010qru.2_Missense_Mutation_p.P112L|TCF7L2_uc010qrv.2_Missense_Mutation_p.P35L|TCF7L2_uc010qrw.2_5'UTR|TCF7L2_uc010qrx.2_Missense_Mutation_p.P75L	NM_030756	NP_110383	Q9NQB0	TF7L2_HUMAN	Homo sapiens transcription factor 7-like 2 (T-cell specific, HMG-box) (TCF7L2), transcript variant 2, mRNA.	218	Mediates interaction with MAD2L2.|Pro-rich.				anti-apoptosis|blood vessel development|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell cycle arrest|cell proliferation|fat cell differentiation|glucose homeostasis|maintenance of DNA repeat elements|myoblast cell fate commitment|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|pancreas development|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of insulin secretion|positive regulation of protein binding|positive regulation of protein export from nucleus|positive regulation of protein kinase B signaling cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone metabolic process|regulation of smooth muscle cell proliferation|response to glucose stimulus	PML body|beta-catenin-TCF7L2 complex|protein-DNA complex	armadillo repeat domain binding|beta-catenin binding|gamma-catenin binding|nuclear hormone receptor binding|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding		VTI1A/TCF7L2(8)	central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1)	41		Breast(234;0.058)|Colorectal(252;0.0615)		Epithelial(162;0.00554)|all cancers(201;0.02)		AACCCACCTCCACACTTACCA	0.577000			T	VTI1A	colorectal									88			36		0	0	0.006230	0	0
C2orf65	130951	broad.mit.edu	37	2	74834279	74834279	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:74834279G>A	uc002smy.3	-	3	615	c.498C>T	c.(496-498)gaC>gaT	p.D166D	C2orf65_uc010ysa.2_Silent_p.D166D|C2orf65_uc002smz.2_Silent_p.D166D	NM_138804	NP_620159	Q8TC57	CB065_HUMAN	Homo sapiens chromosome 2 open reading frame 65 (C2orf65), mRNA.	166					RNA processing|chromatin assembly|female gamete generation|spermatogenesis	integral to membrane				endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	21						CTCTGGCTAGGTCTGTATCTT	0.458000														66			36		0	0	0.006230	0	0
ZSCAN10	84891	broad.mit.edu	37	16	3141590	3141590	+	Silent	SNP	C	T	T	rs147307513		TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:3141590C>T	uc002ctv.1	-	3	661	c.573G>A	c.(571-573)ctG>ctA	p.L191L	ZSCAN10_uc002cty.1_5'UTR|ZSCAN10_uc002ctw.1_Silent_p.L109L|ZSCAN10_uc002ctx.1_Silent_p.L119L	NM_032805	NP_116194	Q96SZ4	ZSC10_HUMAN	Homo sapiens zinc finger and SCAN domain containing 10 (ZSCAN10), mRNA.	191					negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						CCTCAAAGGTCAGGCACTCCT	0.527000														38			21		0	0	0.008871	0	0
VWA5A	4013	broad.mit.edu	37	11	124013187	124013187	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:124013187C>T	uc001pzu.3	+	16	2271	c.2062C>T	c.(2062-2064)Caa>Taa	p.Q688*	VWA5A_uc001pzt.3_Nonsense_Mutation_p.Q688*	NM_001130142	NP_055437	O00534	VMA5A_HUMAN	Homo sapiens von Willebrand factor A domain containing 5A (VWA5A), transcript variant 3, mRNA.	688										autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						GATTTACCACCAAAATGCAAA	0.443000														53			30		0	0	0.002096	0	0
GFPT2	9945	broad.mit.edu	37	5	179743856	179743856	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:179743856G>A	uc003mlw.1	-	11	1158	c.1060C>T	c.(1060-1062)Ctg>Ttg	p.L354L		NM_005110	NP_005101	O94808	GFPT2_HUMAN	Homo sapiens glutamine-fructose-6-phosphate transaminase 2 (GFPT2), mRNA.	354					UDP-N-acetylglucosamine biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		L-Glutamine(DB00130)	AAGCCACCCAGGAGCACTGCA	0.592000														16			10		0	0	0.008291	0	0
OPCML	4978	broad.mit.edu	37	11	132307126	132307126	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:132307126G>A	uc010sck.2	-	3	704	c.654C>T	c.(652-654)atC>atT	p.I218I	OPCML_uc001qgu.3_Silent_p.I211I|OPCML_uc001qgs.3_Silent_p.I218I|OPCML_uc001qgt.3_Silent_p.I217I|OPCML_uc010scl.2_Silent_p.I177I	NM_002545	NP_002536	Q14982	OPCM_HUMAN	Homo sapiens opioid binding protein/cell adhesion molecule-like (OPCML), transcript variant 1, mRNA.	218	Ig-like C2-type 2.				cell adhesion|neuron recognition	anchored to membrane|integral to plasma membrane	opioid receptor activity			endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		AGTTTACAGTGATTTTTACTT	0.537000														52			15		0	0	0.007413	0	0
UNC5D	137970	broad.mit.edu	37	8	35608148	35608148	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:35608148G>A	uc003xjr.2	+	12	2312	c.1984G>A	c.(1984-1986)Gac>Aac	p.D662N	UNC5D_uc003xjs.2_Missense_Mutation_p.D657N|UNC5D_uc003xju.2_Missense_Mutation_p.D238N	NM_080872	NP_543148	Q6UXZ4	UNC5D_HUMAN	Homo sapiens unc-5 homolog D (C. elegans) (UNC5D), mRNA.	662					apoptosis|axon guidance	integral to membrane	receptor activity	p.H662Y(1)|p.C661F(1)		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)		CTGCCTTTTGGACCCCTTTGC	0.478000														75			22		0	0	0.005443	0	0
DSG1	1828	broad.mit.edu	37	18	28911801	28911801	+	Nonsense_Mutation	SNP	C	T	T	rs145081747		TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr18:28911801C>T	uc002kwp.3	+	5	867	c.655C>T	c.(655-657)Cga>Tga	p.R219*		NM_001942	NP_001933	Q02413	DSG1_HUMAN	Homo sapiens desmoglein 1 (DSG1), mRNA.	219	Cadherin 2.				calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			TGGAGAAATTCGAACGATGAA	0.328000														74			31		0	0	0.002836	0	0
FREM2	341640	broad.mit.edu	37	13	39454676	39454676	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr13:39454676C>T	uc001uwv.3	+	23	9571	c.9262C>T	c.(9262-9264)Ccc>Tcc	p.P3088S		NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	Homo sapiens FRAS1 related extracellular matrix protein 2 (FREM2), mRNA.	3088					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		GAGGCAGATCCCCCATGGGAG	0.602000														14			5		0	0	0.000602	0	0
CEACAM20	125931	broad.mit.edu	37	19	45028069	45028069	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	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														236			83		0	0	0.003610	0	0
PHF2P1	266695	broad.mit.edu	37	13	19636755	19636755	+	RNA	SNP	T	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr13:19636755T>A	uc001umb.1	-	5		c.827A>T								Homo sapiens PHD finger protein 2 pseudogene 1 (PHF2P1), non-coding RNA.																		ACATGGGTTTTCTCATAGTTT	0.552000														11			4		0	0	0.000602	0	0
ADAMTS15	170689	broad.mit.edu	37	11	130341141	130341141	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:130341141C>T	uc010scd.2	+	6	1941	c.1941C>T	c.(1939-1941)tcC>tcT	p.S647S		NM_139055	NP_620686	Q8TE58	ATS15_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 15 (ADAMTS15), mRNA.	647	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.S647S(2)|p.T646I(1)		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)		ACTCCACCTCCGTCTGTGTCC	0.587000														20			9		0	0	0.004482	0	0
MAGEA1	4100	broad.mit.edu	37	X	152482275	152482275	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chrX:152482275C>T	uc022chs.1	-	0	736	c.736G>A	c.(736-738)Gaa>Aaa	p.E246K	MAGEA1_uc004fhf.2_Missense_Mutation_p.E246K	NM_004988	NP_004979	P43355	MAGA1_HUMAN	Homo sapiens melanoma antigen family A, 1 (directs expression of antigen MZ2-E) (MAGEA1), mRNA.	246	MAGE.					cytoplasm|plasma membrane				breast(1)|central_nervous_system(7)|kidney(2)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					AGGTACTTTTCCTGCACCAAA	0.572000														20			30		0	0	0.008361	0	0
ZG16B	124220	broad.mit.edu	37	16	2881991	2881991	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:2881991C>T	uc002cru.3	+	3	534	c.458C>T	c.(457-459)tCc>tTc	p.S153F		NM_145252	NP_660295	Q96DA0	ZG16B_HUMAN	Homo sapiens zymogen granule protein 16 homolog B (rat) (ZG16B), mRNA.	153						extracellular region	sugar binding	p.S153P(1)		central_nervous_system(1)|lung(2)|ovary(1)|prostate(1)	5						GGCCAGATCTCCTCTGCCTAC	0.507000														47			25		0	0	0.003954	0	0
TMEM2	23670	broad.mit.edu	37	9	74319652	74319652	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:74319652T>C	uc011lsa.1	-	17	3593	c.3053A>G	c.(3052-3054)aAc>aGc	p.N1018S	TMEM2_uc011lrz.1_Missense_Mutation_p.N11S|TMEM2_uc010mos.2_Missense_Mutation_p.N955S|TMEM2_uc011lsb.1_Non-coding_Transcript	NM_013390	NP_037522	Q9UHN6	TMEM2_HUMAN	Homo sapiens transmembrane protein 2 (TMEM2), transcript variant 1, mRNA.	1018						integral to membrane		p.N1018D(1)		central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		CACCATAGGGTTGGACGGATA	0.463000														46			23		0	0	0.005443	0	0
CBLN2	147381	broad.mit.edu	37	18	70205947	70205947	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr18:70205947T>C	uc002lku.2	-	2	653	c.418A>G	c.(418-420)Aaa>Gaa	p.K140E	CBLN2_uc002lkv.2_Missense_Mutation_p.K140E	NM_182511	NP_872317	Q8IUK8	CBLN2_HUMAN	Homo sapiens cerebellin 2 precursor (CBLN2), mRNA.	140	C1q.					integral to membrane				endometrium(2)|lung(15)	17		Esophageal squamous(42;0.131)				TAAATCCCTTTTCTCGGTGCT	0.413000														64			24		0	0	0.003954	0	0
CYP3A43	64816	broad.mit.edu	37	7	99447243	99447243	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:99447243C>T	uc003ury.1	+	6	699	c.596C>T	c.(595-597)cCa>cTa	p.P199L	CYP3A43_uc003urx.1_Missense_Mutation_p.P199L|CYP3A43_uc003urz.1_Missense_Mutation_p.P199L|CYP3A43_uc003usa.1_Non-coding_Transcript|CYP3A43_uc010lgi.1_Intron|CYP3A43_uc003usb.1_Silent_p.S61S	NM_022820	NP_073731	Q9HB55	CP343_HUMAN	Homo sapiens cytochrome P450, family 3, subfamily A, polypeptide 43 (CYP3A43), transcript variant 1, mRNA.	199			Missing (in allele CYP3A43*2).		xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)				Cetirizine(DB00341)|Doxycycline(DB00254)	CTCAACAATCCACAAGATCCC	0.338000														63			17		0	0	0.007413	0	0
ADAMTS10	81794	broad.mit.edu	37	19	8654208	8654208	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:8654208C>T	uc002mkj.1	-	17	2350	c.2076G>A	c.(2074-2076)gaG>gaA	p.E692E	ADAMTS10_uc002mki.1_Silent_p.E179E|ADAMTS10_uc002mkk.1_Silent_p.E324E	NM_030957	NP_112219	Q9H324	ATS10_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 10 (ADAMTS10), mRNA.	692	Cys-rich.				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						GGCACTTGTCCTCCCGCAGGT	0.687000														33			12		0	0	0.004007	0	0
ASPRV1	151516	broad.mit.edu	37	2	70188388	70188388	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:70188388C>T	uc002sfz.4	-	0	1010	c.433G>A	c.(433-435)Gag>Aag	p.E145K		NM_152792	NP_690005	Q53RT3	APRV1_HUMAN	Homo sapiens aspartic peptidase, retroviral-like 1 (ASPRV1), mRNA.	145					protein maturation by peptide bond cleavage|skin development		aspartic-type endopeptidase activity			endometrium(3)|large_intestine(4)|lung(6)|ovary(1)	14						CCCAGGGCCTCTCCTCTGAGG	0.562000														22			10		0	0	0.006214	0	0
JAKMIP3	282973	broad.mit.edu	37	10	133967453	133967453	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:133967453G>A	uc001lkx.4	+	17	2173	c.2173G>A	c.(2173-2175)Gag>Aag	p.E725K	JAKMIP3_uc009yba.1_Missense_Mutation_p.E162K	NM_001105521	NP_001098991			Homo sapiens Janus kinase and microtubule interacting protein 3 (JAKMIP3), mRNA.									p.E724*(1)		breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		CCTGGACGAGGAGCTGGACTA	0.627000														36			16		0	0	0.004990	0	0
LRP1B	53353	broad.mit.edu	37	2	141232749	141232749	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:141232749G>A	uc002tvj.1	-	59	10555	c.9583C>T	c.(9583-9585)Cac>Tac	p.H3195Y		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	3195					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)		AATTCAATGTGATTTTCATCG	0.338000										TSP Lung(27;0.18)				51			22		0	0	0.003954	0	0
OGFRL1	79627	broad.mit.edu	37	6	72006410	72006410	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:72006410C>T	uc003pfx.1	+	5	745	c.582C>T	c.(580-582)ttC>ttT	p.F194F		NM_024576	NP_078852	Q5TC84	OGRL1_HUMAN	Homo sapiens opioid growth factor receptor-like 1 (OGFRL1), mRNA.	194						membrane	receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|upper_aerodigestive_tract(1)	13						TTAGAAGATTCCTCCTGGCTT	0.333000														36			13		0	0	0.001855	0	0
RNASE12	493901	broad.mit.edu	37	14	21058713	21058713	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:21058713T>A	uc001vxt.3	-	0	270	c.170A>T	c.(169-171)gAa>gTa	p.E57V	RNASE11_uc010ahv.3_5'Flank|RNASE11_uc010ahx.3_5'Flank|RNASE11_uc010ahw.3_5'Flank|RNASE11_uc001vxs.3_5'Flank|AX747992_uc001vxu.1_Non-coding_Transcript	NM_001024822	NP_001019993	Q5GAN4	RNS12_HUMAN	Homo sapiens ribonuclease, RNase A family, 12 (non-active) (RNASE12), mRNA.	57						extracellular region	nucleic acid binding|pancreatic ribonuclease activity			kidney(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8	all_cancers(95;0.00238)		Epithelial(56;1.85e-06)|all cancers(55;1.46e-05)	GBM - Glioblastoma multiforme(265;0.013)		GTGGTCAGGTTCCCTGATAAC	0.438000														45			30		0	0	0.001786	0	0
BC068290	0	broad.mit.edu	37	16	33784745	33784745	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:33784745C>T	uc010vgb.2	+	1	154	c.134C>T	c.(133-135)gCc>gTc	p.A45V						SubName: Full=Uncharacterized protein;																		ATGGGCTGGGCCTTCGTGCTG	0.617000														20			4		0	0	0.000602	0	0
ARHGAP25	9938	broad.mit.edu	37	2	69049501	69049501	+	Silent	SNP	C	T	T	rs146486959	byFrequency	TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:69049501C>T	uc010fdg.3	+	9	1649	c.1230C>T	c.(1228-1230)acC>acT	p.T410T	ARHGAP25_uc010yql.2_Silent_p.T370T|ARHGAP25_uc002sew.3_Silent_p.T402T|ARHGAP25_uc002sex.3_Silent_p.T403T	NM_001007231	NP_001007232	P42331	RHG25_HUMAN	Homo sapiens Rho GTPase activating protein 25 (ARHGAP25), transcript variant 1, mRNA.	409					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						CCAGCCCCACCGGACAGCAGC	0.512000														82			29		0	0	0.007291	0	0
GRXCR1	389207	broad.mit.edu	37	4	42895296	42895296	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:42895296G>A	uc003gwt.3	+	0	14	c.13G>A	c.(13-15)Gag>Aag	p.E5K		NM_001080476	NP_001073945	A8MXD5	GRCR1_HUMAN	Homo sapiens glutaredoxin, cysteine rich 1 (GRXCR1), mRNA.	5					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			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1)	32						GCTTAAAAGGGAGATGAAGCC	0.507000														40			22		0	0	0.002299	0	0
GRM3	2913	broad.mit.edu	37	7	86479837	86479837	+	Missense_Mutation	SNP	G	A	A	rs144976488		TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:86479837G>A	uc003uid.3	+	4	3642	c.2543G>A	c.(2542-2544)gGa>gAa	p.G848E	GRM3_uc010lef.3_Nonsense_Mutation_p.W490*|GRM3_uc010leg.3_Missense_Mutation_p.G720E|GRM3_uc010leh.3_Missense_Mutation_p.G440E	NM_000840	NP_000831	Q14832	GRM3_HUMAN	Homo sapiens glutamate receptor, metabotropic 3 (GRM3), mRNA.	848					synaptic transmission	integral to plasma membrane		p.G848E(4)		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)	AGTGTCAGTGGAACTGGGACC	0.478000														54			24		0	0	0.007291	0	0
MYH1	4619	broad.mit.edu	37	17	10408783	10408783	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:10408783G>A	uc002gmo.3	-	19	2314	c.2220C>T	c.(2218-2220)atC>atT	p.I740I	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	740	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity			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						TCTTGCTATCGATGAATTGTC	0.413000														40			10		0	0	0.006214	0	0
CNOT3	4849	broad.mit.edu	37	19	54652020	54652020	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:54652020C>T	uc002qdj.2	+	10	1356	c.1032C>T	c.(1030-1032)ccC>ccT	p.P344P	CNOT3_uc010yel.2_Silent_p.P344P|CNOT3_uc002qdi.3_Silent_p.P257P|CNOT3_uc002qdk.2_Silent_p.P344P|CNOT3_uc010ere.2_Non-coding_Transcript	NM_014516	NP_055331	O75175	CNOT3_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 3 (CNOT3), mRNA.	344	Pro-rich.				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					ATGGGGTCCCCGCCCCCGCAG	0.716000														7			3		0	0	0.000602	0	0
CAMSAP3	57662	broad.mit.edu	37	19	7675458	7675458	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:7675458C>T	uc002mgu.4	+	7	1039	c.938C>T	c.(937-939)cCc>cTc	p.P313L	CAMSAP3_uc002mgv.4_Missense_Mutation_p.P286L	NM_001080429	NP_001073898	Q9P1Y5	CAMP3_HUMAN	Homo sapiens calmodulin regulated spectrin-associated protein family, member 3 (CAMSAP3), transcript variant 1, mRNA.	286					epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance	cytoplasm|microtubule|zonula adherens	microtubule minus-end binding			cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						CGTGGCTGCCCCCTGTCCCTT	0.647000														90			44		0	0	0.002522	0	0
SLC2A12	154091	broad.mit.edu	37	6	134349893	134349893	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:134349893G>A	uc003qem.1	-	1	1241	c.1070C>T	c.(1069-1071)tCg>tTg	p.S357L		NM_145176	NP_660159	Q8TD20	GTR12_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 12 (SLC2A12), mRNA.	357						endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity			NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	17	Breast(56;0.214)|Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0101)|GBM - Glioblastoma multiforme(68;0.0123)		GGTCACCAACGAAGCTGCCAT	0.493000														38			14		0	0	0.002450	0	0
PXDN	7837	broad.mit.edu	37	2	1687478	1687478	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:1687478A>C	uc002qxa.3	-	5	574	c.510T>G	c.(508-510)atT>atG	p.I170M	PXDN_uc002qxb.1_Missense_Mutation_p.I170M|PXDN_uc002qxc.1_5'UTR	NM_012293	NP_036425	Q92626	PXDN_HUMAN	Homo sapiens peroxidasin homolog (Drosophila) (PXDN), mRNA.	170					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		CTAAATGTGTAATCCGGTTGT	0.299000														31			15		0	0	0.003163	0	0
DNAH1	25981	broad.mit.edu	37	3	52394075	52394075	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:52394075C>T	uc011bef.2	+	26	4812	c.4551C>T	c.(4549-4551)ttC>ttT	p.F1517F		NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	Homo sapiens dynein, axonemal, heavy chain 1 (DNAH1), mRNA.	1517	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TGAATGACTTCCAGTGGATCT	0.577000														74			24		0	0	0.002780	0	0
MED12L	116931	broad.mit.edu	37	3	150911295	150911295	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:150911295G>A	uc003eyp.3	+	13	2116	c.1987G>A	c.(1987-1989)Gga>Aga	p.G663R	MED12L_uc011bnz.2_Missense_Mutation_p.G523R|MED12L_uc003eyn.3_Missense_Mutation_p.G698R|MED12L_uc003eyo.3_Missense_Mutation_p.G663R	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	Homo sapiens mediator complex subunit 12-like (MED12L), mRNA.	663					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		p.G663G(1)		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)			TCCTATGCCTGGAGAATCCTG	0.393000														44			20		0	0	0.001523	0	0
LRIG1	26018	broad.mit.edu	37	3	66460624	66460624	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:66460624G>A	uc003dmx.3	-	6	878	c.864C>T	c.(862-864)ctC>ctT	p.L288L	LRIG1_uc010hnz.3_Silent_p.L28L|LRIG1_uc010hoa.3_Silent_p.L288L	NM_015541	NP_056356	Q96JA1	LRIG1_HUMAN	Homo sapiens leucine-rich repeats and immunoglobulin-like domains 1 (LRIG1), mRNA.	288						integral to membrane				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		TGCTGAGGTGGAGCTGATGCA	0.577000														93			138		0	0	0.003610	0	0
MYH15	22989	broad.mit.edu	37	3	108129643	108129643	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:108129643G>A	uc003dxa.1	-	31	4399	c.4342C>T	c.(4342-4344)Cgc>Tgc	p.R1448C		NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN	Homo sapiens myosin, heavy chain 15 (MYH15), mRNA.	1448						myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity	p.V1447I(1)		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						GCTGCAGAGCGGACCTTCCCG	0.647000														28			12		0	0	0.002450	0	0
FMNL2	114793	broad.mit.edu	37	2	153417457	153417457	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:153417457G>A	uc002tye.3	+	5	871	c.504G>A	c.(502-504)tgG>tgA	p.W168*		NM_052905	NP_443137	Q96PY5	FMNL2_HUMAN	Homo sapiens formin-like 2 (FMNL2), mRNA.	168	GBD/FH3.				actin cytoskeleton organization	cytoplasm	Rho GTPase binding|actin binding			central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	23						CAAAGCCCTGGAGTAGGTCCA	0.498000														13			4		0	0	0.000248	0	0
OR2G2	81470	broad.mit.edu	37	1	247751908	247751908	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:247751908C>A	uc010pyy.2	+	0	247	c.247C>A	c.(247-249)Cag>Aag	p.Q83K		NM_001001915	NP_001001915	Q8NGZ5	OR2G2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily G, member 2 (OR2G2), mRNA.	83					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	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;0.017)			TGTTATTCCCCAGCTCCTGGT	0.502000														64			43		4.57556e-38	5.58174e-38	0.003214	1	0
SULF2	55959	broad.mit.edu	37	20	46365559	46365559	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr20:46365559G>A	uc002xto.3	-	2	633	c.303C>T	c.(301-303)gtC>gtT	p.V101V	SULF2_uc002xtr.3_Silent_p.V101V|SULF2_uc002xtq.3_Silent_p.V101V|SULF2_uc010ghv.1_Silent_p.V101V	NM_018837	NP_061325	Q8IWU5	SULF2_HUMAN	Homo sapiens sulfatase 2 (SULF2), transcript variant 1, mRNA.	101					bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	Golgi stack|cell surface|endoplasmic reticulum|extracellular space	arylsulfatase activity|calcium ion binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						TGTGGTTGTGGACGTACTTGC	0.602000														32			21		0	0	0.001882	0	0
OR52N5	390075	broad.mit.edu	37	11	5799030	5799030	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:5799030G>A	uc010qzn.2	-	0	868	c.835C>T	c.(835-837)Ccc>Tcc	p.P279S	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.2_Intron	NM_001001922	NP_001001922	Q8NH56	O52N5_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily N, member 5 (OR52N5), mRNA.	279					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|liver(1)|lung(17)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		AGAGAAGGGGGAATTGTGTGT	0.443000														39			18		0	0	0.007413	0	0
TLL1	7092	broad.mit.edu	37	4	166924680	166924680	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:166924680G>A	uc003irh.2	+	5	1417	c.770G>A	c.(769-771)cGa>cAa	p.R257Q	TLL1_uc021xud.1_Missense_Mutation_p.R257Q|TLL1_uc011cjn.2_Missense_Mutation_p.R257Q|TLL1_uc011cjo.2_Missense_Mutation_p.R81Q	NM_012464	NP_036596	O43897	TLL1_HUMAN	Homo sapiens tolloid-like 1 (TLL1), transcript variant 1, mRNA.	257	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)		AGACCAGATCGAGATAACCAC	0.408000														25			15		0	0	0.004990	0	0
SUN3	256979	broad.mit.edu	37	7	48056919	48056919	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:48056919C>T	uc003tof.3	-	3	325	c.228G>A	c.(226-228)caG>caA	p.Q76Q	SUN3_uc003tog.3_Silent_p.Q76Q|SUN3_uc011kcf.2_Silent_p.Q64Q	NM_152782	NP_689995	Q8TAQ9	SUN3_HUMAN	Homo sapiens Sad1 and UNC84 domain containing 3 (SUN3), transcript variant 2, mRNA.	76						integral to membrane		p.Q76H(2)		central_nervous_system(1)|endometrium(3)|large_intestine(8)|liver(1)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GTCTGGATTTCTGAGGAACAT	0.289000														27			9		0	0	0.006214	0	0
FGFRL1	53834	broad.mit.edu	37	4	1018175	1018175	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:1018175C>T	uc003gce.3	+	5	956	c.795C>T	c.(793-795)tcC>tcT	p.S265S	FGFRL1_uc003gcf.3_Silent_p.S265S|FGFRL1_uc003gcg.3_Silent_p.S265S|FGFRL1_uc010ibo.3_Silent_p.S265S	NM_021923	NP_068742	Q8N441	FGRL1_HUMAN	Homo sapiens fibroblast growth factor receptor-like 1 (FGFRL1), transcript variant 3, mRNA.	265	Ig-like C2-type 3.				regulation of cell growth	integral to membrane|plasma membrane	fibroblast growth factor receptor activity|heparin binding			endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	13			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			GGACCACGTCCTTCCAGTGCA	0.672000														45			27		0	0	0.002445	0	0
FSTL5	56884	broad.mit.edu	37	4	162841791	162841791	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:162841791C>T	uc003iqh.3	-	3	610	c.174G>A	c.(172-174)caG>caA	p.Q58Q	FSTL5_uc003iqi.3_Silent_p.Q57Q|FSTL5_uc010iqv.3_Silent_p.Q57Q	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN	Homo sapiens follistatin-like 5 (FSTL5), transcript variant 1, mRNA.	58						extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		AAGGGCCATCCTGAATCATAA	0.368000														29			7		0	0	0.003080	0	0
MARCH3	115123	broad.mit.edu	37	5	126213904	126213904	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:126213904G>A	uc003kuf.3	-	3	1031	c.576C>T	c.(574-576)ctC>ctT	p.L192L		NM_178450	NP_848545	Q86UD3	MARH3_HUMAN	Homo sapiens membrane-associated ring finger (C3HC4) 3 (MARCH3), mRNA.	192					endocytosis	cytoplasmic vesicle membrane|early endosome membrane|integral to membrane|lysosome	ligase activity|zinc ion binding			large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	6		Prostate(80;0.0928)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.074)|OV - Ovarian serous cystadenocarcinoma(64;0.0793)		AAATAGTGAAGAGTGCGACAG	0.587000														48			17		0	0	0.001523	0	0
HEG1	57493	broad.mit.edu	37	3	124689556	124689557	+	Missense_Mutation	DNP	GA	AC	AC			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:124689556_124689557GA>AC	uc011bke.2	-	17	4453_4454	c.4385_4386TC>GT	c.(4384-4386)ttc>tGT	p.F1462C	HEG1_uc003ehr.4_Missense_Mutation_p.F216C|HEG1_uc003ehs.4_Missense_Mutation_p.F1362C	NM_020733	NP_065784	Q9ULI3	HEG1_HUMAN	Homo sapiens HEG homolog 1 (zebrafish) (HEG1), mRNA.	1362						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						ACTGTCCGGGGAAAATGCAAGA	0.490000														13			5		0	0	0.004672	0	0
OR5B21	219968	broad.mit.edu	37	11	58275298	58275299	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:58275298_58275299CC>TT	uc010rki.2	-	0	280_281	c.280_281GG>AA	c.(280-282)gga>AAa	p.G94K		NM_001005218	NP_001005218	A6NL26	OR5BL_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily B, member 21 (OR5B21), mRNA.	94					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				AGCTGCACATCCATCGTAGGAG	0.550000														9			5		0	0	0.004672	0	0
WDR52	55779	broad.mit.edu	37	3	113098242	113098242	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:113098242C>G	uc003ead.2	-	16	2276	c.2209G>C	c.(2209-2211)Gag>Cag	p.E737Q	WDR52_uc003eae.2_Missense_Mutation_p.E737Q	NM_001164496	NP_001157968	Q96MT7	WDR52_HUMAN	Homo sapiens WD repeat domain 52 (WDR52), transcript variant 1, mRNA.	737	Glu-rich.									breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						GGTAATGGctcttcttcctcc	0.463000														29			18		0	0	0.004990	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125555860	125555860	+	Silent	SNP	T	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:125555860T>A	uc010flu.3	+	18	3544	c.3180T>A	c.(3178-3180)tcT>tcA	p.S1060S	CNTNAP5_uc002tno.3_Silent_p.S1059S	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	Homo sapiens contactin associated protein-like 5 (CNTNAP5), mRNA.	1059	Laminin G-like 4.				cell adhesion|signal transduction	integral to membrane	receptor binding			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)		TCAATTCTTCTTCTCAGGACT	0.502000														34			14		0	0	0.004007	0	0
TAS2R1	50834	broad.mit.edu	37	5	9630016	9630016	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:9630016C>T	uc003jem.1	-	0	448	c.129G>A	c.(127-129)ccG>ccA	p.P43P		NM_019599	NP_062545	Q9NYW7	TA2R1_HUMAN	Homo sapiens taste receptor, type 2, member 1 (TAS2R1), mRNA.	43					chemosensory behavior|sensory perception of taste	integral to membrane	taste receptor activity	p.A42V(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(19)|ovary(3)|prostate(1)|skin(1)|stomach(1)	39						GGAGATCCAGCGGAGCCATTT	0.378000														44			13		0	0	0.003163	0	0
C16orf42	115939	broad.mit.edu	37	16	1400074	1400075	+	Nonsense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:1400074_1400075GG>AA	uc002cll.3	-	3	755_756	c.687_688CC>TT	c.(685-690)ccccag>ccTTag	p.Q230*	GNPTG_uc002clm.3_5'Flank	NM_001001410	NP_001001410	Q9UJK0	TSR3_HUMAN	Homo sapiens chromosome 16 open reading frame 42 (C16orf42), mRNA.	230					rRNA processing					endometrium(1)|kidney(1)|lung(2)	4		Hepatocellular(780;0.0893)				TCCTCCTCCTGGGGGCTCTCCT	0.668000														8			7		0	0	0.004672	0	0
HMGCLL1	54511	broad.mit.edu	37	6	55406863	55406863	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:55406863C>T	uc003pcn.3	-	2	433	c.274G>A	c.(274-276)Gaa>Aaa	p.E92K	HMGCLL1_uc011dxe.2_Missense_Mutation_p.E62K|HMGCLL1_uc003pco.3_Missense_Mutation_p.E62K|HMGCLL1_uc010jzx.3_5'UTR|HMGCLL1_uc011dxc.2_Missense_Mutation_p.E62K|HMGCLL1_uc011dxd.2_Missense_Mutation_p.E62K|HMGCLL1_uc003pcp.3_Missense_Mutation_p.E62K	NM_019036	NP_061909	Q8TB92	HMGC2_HUMAN	Homo sapiens 3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1 (HMGCLL1), transcript variant 1, mRNA.	92							hydroxymethylglutaryl-CoA lyase activity|metal ion binding	p.E92K(2)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31	Lung NSC(77;0.0875)		LUSC - Lung squamous cell carcinoma(124;0.23)			ACTACCTTTTCATTCTGCAAT	0.313000														26			6		0	0	0.004482	0	0
TTN	7273	broad.mit.edu	37	2	179639813	179639813	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:179639813T>C	uc021vsy.1	-	28	6850	c.6625A>G	c.(6625-6627)Aaa>Gaa	p.K2209E	TTN_uc021vsz.1_Missense_Mutation_p.K2163E|TTN_uc021vta.1_Missense_Mutation_p.K2163E|TTN_uc021vtb.1_Missense_Mutation_p.K2163E|TTN_uc002unb.2_Missense_Mutation_p.K2209E|AK123298_uc002unc.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	2209	Ig-like 11.						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)			ATACCATCTTTATACCATTTC	0.393000														38			22		0	0	0.001523	0	0
ADAM18	8749	broad.mit.edu	37	8	39564342	39564342	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:39564342C>T	uc003xni.3	+	17	1991	c.1936C>T	c.(1936-1938)Cct>Tct	p.P646S	ADAM18_uc010lww.3_Non-coding_Transcript|ADAM18_uc010lwx.3_Missense_Mutation_p.P622S	NM_014237	NP_055052	Q9Y3Q7	ADA18_HUMAN	Homo sapiens ADAM metallopeptidase domain 18 (ADAM18), transcript variant 1, mRNA.	646	EGF-like.				cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			TCAATGCTTCCCTGGACATAG	0.353000														66			28		0	0	0.002096	0	0
ESRP1	54845	broad.mit.edu	37	8	95680343	95680343	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:95680343T>A	uc003ygq.4	+	9	1281	c.1098T>A	c.(1096-1098)gaT>gaA	p.D366E	ESRP1_uc003ygr.4_Missense_Mutation_p.D366E|ESRP1_uc003ygs.4_Missense_Mutation_p.D366E|ESRP1_uc003ygt.4_Missense_Mutation_p.D366E|ESRP1_uc003ygu.4_Missense_Mutation_p.D366E|ESRP1_uc003ygv.3_Missense_Mutation_p.D206E|ESRP1_uc003ygw.3_Missense_Mutation_p.D206E	NM_017697	NP_060167	Q6NXG1	ESRP1_HUMAN	Homo sapiens epithelial splicing regulatory protein 1 (ESRP1), transcript variant 1, mRNA.	366	RRM 2.				RNA splicing|mRNA processing|regulation of RNA splicing	nucleus|plasma membrane	mRNA binding|nucleotide binding		ESRP1/RAF1(4)	NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2)	20						CCTACCCAGATGGTAGGCCAA	0.493000														257			120		0	0	0.003610	0	0
SFMBT2	57713	broad.mit.edu	37	10	7262456	7262456	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:7262456G>A	uc009xio.2	-	10	1338	c.1247C>T	c.(1246-1248)gCt>gTt	p.A416V	SFMBT2_uc001ijn.2_Missense_Mutation_p.A416V|SFMBT2_uc010qay.2_Intron	NM_001018039	NP_001018049	Q5VUG0	SMBT2_HUMAN	Homo sapiens Scm-like with four mbt domains 2 (SFMBT2), transcript variant 2, mRNA.	416					regulation of transcription, DNA-dependent	nucleus		p.A416D(2)		NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						GGGGTTCACAGCTTCAAGTTT	0.532000														71			24		0	0	0.002299	0	0
AXIN2	8313	broad.mit.edu	37	17	63533654	63533654	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:63533654G>A	uc002jfi.3	-	5	1789	c.1500C>T	c.(1498-1500)ctC>ctT	p.L500L	AXIN2_uc002jfh.3_Silent_p.L500L	NM_004655	NP_004646	Q9Y2T1	AXIN2_HUMAN	Homo sapiens axin 2 (AXIN2), mRNA.	500					Wnt receptor signaling pathway involved in somitogenesis|cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|mRNA stabilization|maintenance of DNA repeat elements|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair	Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density	GTPase activator activity|armadillo repeat domain binding|beta-catenin binding|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	34						CTTTGCCCCCGAGGAGGGGGC	0.677000									Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome					20			15		0	0	0.002450	0	0
RPS6KC1	26750	broad.mit.edu	37	1	213445937	213445937	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:213445937C>T	uc010ptr.2	+	14	3320	c.3161C>T	c.(3160-3162)cCa>cTa	p.P1054L	RPS6KC1_uc001hkd.3_Missense_Mutation_p.P1042L|RPS6KC1_uc010pts.2_Missense_Mutation_p.P842L|RPS6KC1_uc010ptt.2_Missense_Mutation_p.P842L|RPS6KC1_uc010ptu.2_Missense_Mutation_p.P873L|RPS6KC1_uc010ptv.2_Missense_Mutation_p.P589L|RPS6KC1_uc001hke.3_Missense_Mutation_p.P873L	NM_012424	NP_036556	Q96S38	KS6C1_HUMAN	Homo sapiens ribosomal protein S6 kinase, 52kDa, polypeptide 1 (RPS6KC1), transcript variant 1, mRNA.	1054	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)		AAATCTCATCCATTTTTTACC	0.443000														60			20		0	0	0.001523	0	0
DGKG	1608	broad.mit.edu	37	3	185882754	185882754	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:185882754C>T	uc003fqa.3	-	22	2686	c.2149G>A	c.(2149-2151)Ggg>Agg	p.G717R	DGKG_uc003fqb.3_Missense_Mutation_p.G678R|DGKG_uc003fqc.3_Missense_Mutation_p.G692R|DGKG_uc011brx.2_Missense_Mutation_p.G658R	NM_001346	NP_001337	P49619	DGKG_HUMAN	Homo sapiens diacylglycerol kinase, gamma 90kDa (DGKG), transcript variant 1, mRNA.	717					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	TAGATCTGCCCCATCTCCATG	0.567000														28			21		0	0	0.008871	0	0
NID2	22795	broad.mit.edu	37	14	52520456	52520456	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:52520456G>A	uc001wzo.3	-	4	1504	c.1270C>T	c.(1270-1272)Cca>Tca	p.P424S	NID2_uc010tqs.2_Missense_Mutation_p.P424S|NID2_uc010tqt.1_Missense_Mutation_p.P424S|NID2_uc001wzp.3_Missense_Mutation_p.P424S	NM_007361	NP_031387	Q14112	NID2_HUMAN	Homo sapiens nidogen 2 (osteonidogen) (NID2), mRNA.	424						basement membrane	calcium ion binding|collagen binding			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					CCTCCATCTGGGTAGGGCTGG	0.552000														49			25		0	0	0.003330	0	0
OR6A2	8590	broad.mit.edu	37	11	6816667	6816667	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:6816667C>T	uc001mes.1	-	0	473	c.273G>A	c.(271-273)caG>caA	p.Q91Q		NM_003696	NP_003687	O95222	OR6A2_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily A, member 2 (OR6A2), mRNA.	91					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(4)|pancreas(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	29		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GTCCATGATCCTGTTTGGATC	0.458000														38			19		0	0	0.001882	0	0
NEUROD1	4760	broad.mit.edu	37	2	182543276	182543276	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:182543276C>T	uc021vto.1	-	0	312	c.312G>A	c.(310-312)atG>atA	p.M104I	CERKL_uc021vtm.1_Intron|CERKL_uc002uod.2_Intron|NEUROD1_uc002uof.3_Missense_Mutation_p.M104I|NEUROD1_uc021vtn.1_Missense_Mutation_p.M104I	NM_002500	NP_002491	Q13562	NDF1_HUMAN	Homo sapiens neurogenic differentiation 1 (NEUROD1), mRNA.	104					amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus	cytoplasm|nucleus	E-box binding|chromatin binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding			endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.088)			CGTTAGCCTTCATGCGTCTCA	0.547000														271			103		0	0	0.003610	0	0
SLC38A2	54407	broad.mit.edu	37	12	46757533	46757533	+	Missense_Mutation	SNP	G	C	C	rs36065261	byFrequency	TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:46757533G>C	uc001rpg.3	-	11	1470	c.1030C>G	c.(1030-1032)Ctc>Gtc	p.L344V	SLC38A2_uc010sli.2_Missense_Mutation_p.L182V|SLC38A2_uc001rph.3_Missense_Mutation_p.L244V	NM_018976	NP_061849	Q96QD8	S38A2_HUMAN	Homo sapiens solute carrier family 38, member 2 (SLC38A2), mRNA.	344					cellular nitrogen compound metabolic process|glutamate secretion|neurotransmitter secretion|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity	p.L344L(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	18	Lung SC(27;0.192)|Renal(347;0.236)		OV - Ovarian serous cystadenocarcinoma(5;0.0048)|Epithelial(2;0.0374)	GBM - Glioblastoma multiforme(48;0.226)		TATCCAAAGAGGGCGGCAAGC	0.358000														47			12		0	0	0.001855	0	0
ANKRD5	63926	broad.mit.edu	37	20	10030294	10030294	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr20:10030294C>T	uc002wno.3	+	6	1470	c.1077C>T	c.(1075-1077)ttC>ttT	p.F359F	LOC100131208_uc002wnn.2_Intron|ANKRD5_uc002wnp.3_Silent_p.F359F|ANKRD5_uc010gbz.3_Silent_p.F170F	NM_022096	NP_942093	Q9NU02	ANKR5_HUMAN	Homo sapiens ankyrin repeat domain 5 (ANKRD5), transcript variant 1, mRNA.	359	EF-hand.						calcium ion binding			breast(2)|endometrium(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	37						AGAACGACTTCGTGATGGTGT	0.527000														79			22		0	0	0.002299	0	0
TSIX	9383	broad.mit.edu	37	X	73042686	73042686	+	RNA	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chrX:73042686C>T	uc004ebn.2	+	0		c.30647C>T			XIST_uc004ebm.1_Non-coding_Transcript					Homo sapiens TSIX transcript, XIST antisense RNA (non-protein coding) (TSIX), antisense RNA.																		TTTAGTTTTTCCTTAGTATCG	0.348000														13			39		0	0	0.006999	0	0
ZMIZ2	83637	broad.mit.edu	37	7	44795885	44795885	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:44795885C>T	uc003tlr.3	+	1	160	c.37C>T	c.(37-39)Cct>Tct	p.P13S	ZMIZ2_uc003tlq.3_Missense_Mutation_p.P13S|ZMIZ2_uc003tls.3_Missense_Mutation_p.P13S	NM_031449	NP_113637	Q8NF64	ZMIZ2_HUMAN	Homo sapiens zinc finger, MIZ-type containing 2 (ZMIZ2), transcript variant 1, mRNA.	13					positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding			breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						TGCCCTGCCCCCTGCGCCACA	0.597000														32			9		0	0	0.002450	0	0
SH3GL1	6455	broad.mit.edu	37	19	4363869	4363870	+	Silent	DNP	GG	AA	AA			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:4363869_4363870GG>AA	uc002maj.3	-	5	671_672	c.471_472CC>TT	c.(469-474)cacctg>caTTtg	p.157_158HL>HL	SH3GL1_uc002mak.3_Silent_p.93_94HL>HL|SH3GL1_uc010xig.2_Silent_p.109_110HL>HL	NM_003025	NP_003016	Q99961	SH3G1_HUMAN	Homo sapiens SH3-domain GRB2-like 1 (SH3GL1), transcript variant 1, mRNA.	157	BAR.				central nervous system development|endocytosis|signal transduction	early endosome membrane	lipid binding|protein binding			NS(1)|endometrium(2)|kidney(16)|large_intestine(3)|lung(2)|ovary(2)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0152)|STAD - Stomach adenocarcinoma(1328;0.182)		AGTTTCTTCAGGTGGTGCTGGA	0.629000			T	MLL	AL									39			9		0	0	0.004672	0	0
C20orf94	128710	broad.mit.edu	37	20	10603735	10603735	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr20:10603735C>T	uc010zre.2	+	7	1115	c.935C>T	c.(934-936)tCt>tTt	p.S312F		NM_001009608	NP_001009608	Q5VYV7	CT094_HUMAN	Homo sapiens chromosome 20 open reading frame 94 (C20orf94), mRNA.	312							protein binding	p.S312Y(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|skin(1)	14						GGGAGAGTTTCTCTTGGAAGT	0.483000														94			58		0	0	0.003610	0	0
GAL3ST3	89792	broad.mit.edu	37	11	65810824	65810824	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:65810824G>A	uc001ogv.3	-	1	610	c.450C>T	c.(448-450)atC>atT	p.I150I	GAL3ST3_uc001ogw.3_Silent_p.I150I	NM_033036	NP_149025	Q96A11	G3ST3_HUMAN	Homo sapiens galactose-3-O-sulfotransferase 3 (GAL3ST3), mRNA.	150					monosaccharide metabolic process|oligosaccharide metabolic process|poly-N-acetyllactosamine metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|carbohydrate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity			kidney(1)|lung(9)|ovary(2)|skin(2)	14						GCTCGCGCAGGATGGTGACAT	0.697000														6			5		0	0	0.000602	0	0
LTBP2	4053	broad.mit.edu	37	14	75078154	75078154	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:75078154C>T	uc001xqa.3	-	1	881	c.494_splice	c.e1+1	p.G165_splice		NM_000428	NP_000419	Q14767	LTBP2_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 2 (LTBP2), mRNA.	165					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)		CCATGCTCACCCCGTGAGCCG	0.731000														42			22		0	0	0.003954	0	0
KRT26	353288	broad.mit.edu	37	17	38926621	38926621	+	Missense_Mutation	SNP	C	T	T	rs117795478	byFrequency	TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:38926621C>T	uc002hvf.3	-	2	611	c.565G>A	c.(565-567)Gac>Aac	p.D189N		NM_181539	NP_853517	Q7Z3Y9	K1C26_HUMAN	Homo sapiens keratin 26 (KRT26), mRNA.	189	Coil 1B.|Rod.					intermediate filament	structural molecule activity	p.A188A(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(5)	16		Breast(137;0.00526)				CCACTGGTGTCGGCCTCAACA	0.493000														60			12		0	0	0.002450	0	0
MYO1G	64005	broad.mit.edu	37	7	45006321	45006321	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:45006321G>A	uc003tmh.2	-	14	2043	c.1899C>T	c.(1897-1899)gtC>gtT	p.V633V	MYO1G_uc003tmg.2_Silent_p.V395V|MYO1G_uc010kym.2_Silent_p.V518V|MYO1G_uc003tmi.1_Silent_p.V545V	NM_033054	NP_149043	B0I1T2	MYO1G_HUMAN	Homo sapiens myosin IG (MYO1G), mRNA.	633	Myosin head-like.					myosin complex|plasma membrane	ATP binding|actin binding|calmodulin binding|motor activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4)	28						CAGCCCTGCGGACCCTCACAT	0.602000														52			28		0	0	0.005443	0	0
OR5M3	219482	broad.mit.edu	37	11	56237116	56237116	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:56237116C>T	uc010rjk.2	-	0	899	c.858G>A	c.(856-858)atG>atA	p.M286I	OR8U8_uc001nit.2_Intron	NM_001004742	NP_001004742	Q8NGP4	OR5M3_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 3 (OR5M3), mRNA.	286					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37	Esophageal squamous(21;0.00448)					GACTGTAGATCATGGGATTCA	0.403000														16			9		0	0	0.008871	0	0
NOD1	10392	broad.mit.edu	37	7	30491125	30491125	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:30491125G>A	uc003tav.3	-	5	2431	c.1908C>T	c.(1906-1908)ccC>ccT	p.P636P		NM_006092	NP_006083	Q9Y239	NOD1_HUMAN	Homo sapiens nucleotide-binding oligomerization domain containing 1 (NOD1), mRNA.	636					JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of dendritic cell antigen processing and presentation|protein oligomerization|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	basolateral plasma membrane|cytosol	ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						CCTGAACGCGGGGCAGGCTCT	0.637000														15			6		0	0	0.001168	0	0
BAG6	7917	broad.mit.edu	37	6	31608608	31608608	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:31608608G>A	uc003nvg.4	-	19	3119	c.2805C>T	c.(2803-2805)gcC>gcT	p.A935A	BAG6_uc003nvf.4_Silent_p.A929A|BAG6_uc003nvi.4_Silent_p.A929A|BAG6_uc003nvh.4_Silent_p.A929A|BAG6_uc011dnw.2_Silent_p.A929A|BAG6_uc011dnx.2_Silent_p.A803A	NM_004639	NP_004630	P46379	BAG6_HUMAN	Homo sapiens BCL2-associated athanogene 6 (BAG6), transcript variant 1, mRNA.	935					DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process	BAT3 complex|nucleus	polyubiquitin binding|proteasome binding|ribosome binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						ATCTGAGAATGGCATCAGGGC	0.572000														185			89		0	0	0.003610	0	0
KRT78	196374	broad.mit.edu	37	12	53240038	53240038	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:53240038C>T	uc001sbc.1	-	3	763	c.699G>A	c.(697-699)gaG>gaA	p.E233E		NM_173352	NP_775487	Q8N1N4	K2C78_HUMAN	Homo sapiens keratin 78 (KRT78), mRNA.	233	Coil 1B.|Rod.					keratin filament	protein binding|structural molecule activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						CCAGCTTGCCCTCCAACTCCA	0.542000														27			14		0	0	0.004007	0	0
FAM75C1	441452	broad.mit.edu	37	9	90537218	90537218	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:90537218G>A	uc010mqi.3	+	3	2425	c.2396G>A	c.(2395-2397)aGg>aAg	p.R799K	FAM75C1_uc004apq.4_Missense_Mutation_p.R782K|DQ578031_uc022bjg.1_5'Flank	NM_001145124	NP_001138596			Homo sapiens family with sequence similarity 75, member C1 (FAM75C1), mRNA.																		CAATCTTCAAGGGCTGGAGAG	0.582000														50			15		0	0	0.008871	0	0
RBFOX1	54715	broad.mit.edu	37	16	7568204	7568204	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:7568204C>T	uc002cys.2	+	4	1071	c.83C>T	c.(82-84)gCc>gTc	p.A28V	RBFOX1_uc010buf.1_Missense_Mutation_p.A28V|RBFOX1_uc002cyr.1_Missense_Mutation_p.A28V|RBFOX1_uc002cyt.2_Missense_Mutation_p.A28V|RBFOX1_uc010uxz.1_Missense_Mutation_p.A71V|RBFOX1_uc010uya.1_Missense_Mutation_p.A64V|RBFOX1_uc002cyv.1_Missense_Mutation_p.A28V|RBFOX1_uc010uyb.1_Missense_Mutation_p.A28V|RBFOX1_uc002cyw.2_Missense_Mutation_p.A48V|RBFOX1_uc002cyy.2_Missense_Mutation_p.A48V|RBFOX1_uc002cyx.2_Missense_Mutation_p.A48V|RBFOX1_uc010uyc.1_Missense_Mutation_p.A48V	NM_018723	NP_061193	Q9NWB1	RFOX1_HUMAN	Homo sapiens RNA binding protein, fox-1 homolog (C. elegans) 1 (RBFOX1), transcript variant 4, mRNA.	28					RNA splicing|RNA transport|mRNA processing	nucleus|trans-Golgi network	RNA binding|nucleotide binding|protein C-terminus binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						TACGCTTCGGCCCAGTTTGCT	0.602000														70			23		0	0	0.002780	0	0
CDH9	1007	broad.mit.edu	37	5	26881394	26881394	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:26881394C>T	uc003jgs.1	-	11	2390	c.2221G>A	c.(2221-2223)Gaa>Aaa	p.E741K	CDH9_uc011cnv.1_Missense_Mutation_p.E334K	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN	Homo sapiens cadherin 9, type 2 (T1-cadherin) (CDH9), mRNA.	741					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						TCATTCCCTTCATAGGCATAC	0.423000														49			23		0	0	0.002299	0	0
IMPG1	3617	broad.mit.edu	37	6	76660395	76660395	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:76660395C>T	uc003pik.1	-	12	1838	c.1708G>A	c.(1708-1710)Ggc>Agc	p.G570S		NM_001563	NP_001554	Q17R60	IMPG1_HUMAN	Homo sapiens interphotoreceptor matrix proteoglycan 1 (IMPG1), mRNA.	570	SEA 2.				visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity	p.G570G(1)		breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				AGCTCTCGGCCCTTGGGGGCA	0.498000														48			26		0	0	0.007291	0	0
FER1L5	90342	broad.mit.edu	37	2	97369995	97369995	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:97369995A>T	uc010fia.3	+	50	5953	c.5953A>T	c.(5953-5955)Aac>Tac	p.N1985Y	FER1L5_uc002sws.4_Missense_Mutation_p.N694Y|FER1L5_uc010yus.2_Missense_Mutation_p.N693Y	NM_001113382	NP_001106853	A0AVI2	FR1L5_HUMAN	Homo sapiens fer-1-like 5 (C. elegans) (FER1L5), mRNA.	1985						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(9)|large_intestine(9)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	38						ACCAGTTCAAAACTTCTGCTA	0.453000														39			13		0	0	0.001368	0	0
PCDH9	5101	broad.mit.edu	37	13	67800351	67800351	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr13:67800351G>A	uc001vik.3	-	1	2914	c.2222C>T	c.(2221-2223)cCa>cTa	p.P741L	PCDH9_uc001vil.3_Missense_Mutation_p.P741L|PCDH9_uc010thl.2_Missense_Mutation_p.P741L|PCDH9_uc001vin.3_Missense_Mutation_p.P741L	NM_203487	NP_982354	Q9HC56	PCDH9_HUMAN	Homo sapiens protocadherin 9 (PCDH9), transcript variant 1, mRNA.	741	Cadherin 7.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		AGTAGGTGCTGGTTTTTCTTC	0.418000														56			35		0	0	0.004289	0	0
CABP5	56344	broad.mit.edu	37	19	48544856	48544856	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:48544856C>T	uc002phu.2	-	1	200	c.68G>A	c.(67-69)aGa>aAa	p.R23K		NM_019855	NP_062829	Q9NP86	CABP5_HUMAN	Homo sapiens calcium binding protein 5 (CABP5), mRNA.	23					signal transduction	cytoplasm	calcium ion binding			endometrium(1)|large_intestine(3)|lung(3)|prostate(2)|skin(2)	11		all_cancers(25;1.86e-08)|all_lung(116;1.14e-06)|all_epithelial(76;1.16e-06)|Lung NSC(112;2.54e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;4.09e-05)|all cancers(93;0.000322)|Epithelial(262;0.01)|GBM - Glioblastoma multiforme(486;0.058)		TCCCAGTGGTCTTTCCTGGAA	0.537000														61			19		0	0	0.003330	0	0
FETUB	26998	broad.mit.edu	37	3	186370176	186370176	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:186370176G>A	uc010hyq.3	+	7	1166	c.905G>A	c.(904-906)gGa>gAa	p.G302E	FETUB_uc011brz.2_Missense_Mutation_p.G154E|FETUB_uc003fqn.3_Missense_Mutation_p.G302E|FETUB_uc010hyr.3_Missense_Mutation_p.G265E|FETUB_uc010hys.3_Missense_Mutation_p.G154E|FETUB_uc003fqp.4_Missense_Mutation_p.G237E	NM_014375	NP_055190	Q9UGM5	FETUB_HUMAN	Homo sapiens fetuin B (FETUB), mRNA.	302						extracellular space	cysteine-type endopeptidase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)	20	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0479)		GGGCCAAGAGGATCTGTCCAA	0.512000														76			25		0	0	0.003954	0	0
ACACA	31	broad.mit.edu	37	17	35640208	35640208	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:35640208G>A	uc002hnm.3	-	4	650	c.459C>T	c.(457-459)ttC>ttT	p.F153F	ACACA_uc002hnk.3_Silent_p.F75F|ACACA_uc002hnl.3_Silent_p.F95F|ACACA_uc002hnn.3_Silent_p.F153F|ACACA_uc002hno.3_Silent_p.F190F|ACACA_uc010cuz.3_Silent_p.F153F|ACACA_uc002hnq.2_Silent_p.F75F	NM_198836	NP_942135	Q13085	ACACA_HUMAN	Homo sapiens acetyl-CoA carboxylase alpha (ACACA), transcript variant 3, mRNA.	153	Biotin carboxylation.				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	ATP binding|acetyl-CoA carboxylase activity|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	CCATGACAACGAATCTAATTG	0.413000														37			14		0	0	0.004007	0	0
MCF2L2	23101	broad.mit.edu	37	3	182897933	182897933	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:182897933C>T	uc003fli.1	-	27	3121	c.3031G>A	c.(3031-3033)Gag>Aag	p.E1011K		NM_015078	NP_055893	Q86YR7	MF2L2_HUMAN	Homo sapiens MCF.2 cell line derived transforming sequence-like 2 (MCF2L2), mRNA.	1011					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			GAGCTAAACTCCCTGCTGGAG	0.542000														102			61		0	0	0.003610	0	0
GPRC6A	222545	broad.mit.edu	37	6	117150119	117150119	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:117150119G>A	uc003pxj.1	-	0	80	c.58C>T	c.(58-60)Cct>Tct	p.P20S	GPRC6A_uc003pxk.1_Missense_Mutation_p.P20S|GPRC6A_uc003pxl.1_Missense_Mutation_p.P20S	NM_148963	NP_683766	Q5T6X5	GPC6A_HUMAN	Homo sapiens G protein-coupled receptor, family C, group 6, member A (GPRC6A), mRNA.	20					response to amino acid stimulus		G-protein coupled receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		GTCTGGCAAGGCTGTGAAGTA	0.393000														29			10		0	0	0.006214	0	0
ATF1	466	broad.mit.edu	37	12	51207804	51207805	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:51207804_51207805CC>TT	uc001rww.4	+	4	648_649	c.340_341CC>TT	c.(340-342)cca>TTa	p.P114L	ATF1_uc010smu.2_5'UTR	NM_005171	NP_005162	P18846	ATF1_HUMAN	Homo sapiens activating transcription factor 1 (ATF1), mRNA.	114					MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|innate immune response|nerve growth factor receptor signaling pathway|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				EWSR1/ATF1(347)|FUS/ATF1(4)	breast(1)|large_intestine(1)|ovary(2)	4						TGCCATTGCCCCAAATGGAGCC	0.396000			T	"""EWSR1, FUS"""	"""malignant melanoma of soft parts , angiomatoid fibrous histiocytoma """									25			12		0	0	0.004672	0	0
BCLAF1	9774	broad.mit.edu	37	6	136599771	136599771	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:136599771C>T	uc003qgx.1	-	3	501	c.248G>A	c.(247-249)gGa>gAa	p.G83E	BCLAF1_uc003qgy.1_Missense_Mutation_p.G81E|BCLAF1_uc011edc.1_Non-coding_Transcript|BCLAF1_uc011edd.1_Non-coding_Transcript|BCLAF1_uc011ede.1_Missense_Mutation_p.G81E|BCLAF1_uc003qgw.1_Missense_Mutation_p.G83E	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN	Homo sapiens BCL2-associated transcription factor 1 (BCLAF1), transcript variant 1, mRNA.	83					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		ACCTCCTCCTCCTTGATAATA	0.453000														100			17		0	0	0.007413	0	0
DST	667	broad.mit.edu	37	6	56479241	56479242	+	Missense_Mutation	DNP	GG	TA	TA			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:56479241_56479242GG>TA	uc003pcy.4	-	22	3467_3468	c.3359_3360CC>TA	c.(3358-3360)gcc>gTA	p.A1120V	DST_uc021zay.1_Missense_Mutation_p.A1486V|DST_uc021zax.1_Missense_Mutation_p.A1120V	NM_015548	NP_056363	Q03001	DYST_HUMAN	Homo sapiens dystonin (DST), transcript variant 1eA, mRNA.	3522					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	Z disc|actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein C-terminus binding|protein binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GCAATTCTTTGGCTTTTTCAAC	0.361000														25			17		0	0	0.004672	0	0
GPR26	2849	broad.mit.edu	37	10	125447638	125447638	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:125447638G>A	uc001lhh.3	+	2	1029	c.976G>A	c.(976-978)Gac>Aac	p.D326N		NM_153442	NP_703143	Q8NDV2	GPR26_HUMAN	Homo sapiens G protein-coupled receptor 26 (GPR26), mRNA.	326					activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.G325S(1)		breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	20		Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)				CCTCACAGGCGACTCTCACAG	0.567000														23			9		0	0	0.008291	0	0
ACAN	176	broad.mit.edu	37	15	89398540	89398540	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:89398540G>A	uc010upo.1	+	11	3098	c.2724G>A	c.(2722-2724)gtG>gtA	p.V908V	ACAN_uc010upp.1_Silent_p.V908V|ACAN_uc002bna.2_Non-coding_Transcript	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA.	908					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)			CTTCCACAGTGGGCTCAGGCC	0.577000														19			10		0	0	0.006214	0	0
F2	2147	broad.mit.edu	37	11	46749618	46749618	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:46749618C>T	uc001ndf.4	+	9	1246	c.1203C>T	c.(1201-1203)gtC>gtT	p.V401V		NM_000506	NP_000497	P00734	THRB_HUMAN	Homo sapiens coagulation factor II (thrombin) (F2), mRNA.	401	Peptidase S1.				STAT protein import into nucleus|activation of caspase activity|acute-phase response|blood coagulation, intrinsic pathway|cell surface receptor linked signaling pathway|cytosolic calcium ion homeostasis|fibrinolysis|leukocyte migration|negative regulation of astrocyte differentiation|negative regulation of fibrinolysis|negative regulation of platelet activation|negative regulation of proteolysis|peptidyl-glutamic acid carboxylation|platelet activation|positive regulation of collagen biosynthetic process|positive regulation of protein phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of release of sequestered calcium ion into cytosol|post-translational protein modification|proteolysis|tyrosine phosphorylation of STAT protein	Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular space|plasma membrane|soluble fraction	calcium ion binding|growth factor activity|serine-type endopeptidase activity|thrombospondin receptor activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	27		all_lung(304;0.000414)|Lung NSC(402;0.0011)		BRCA - Breast invasive adenocarcinoma(625;0.146)	Antihemophilic Factor(DB00025)|Argatroban(DB00278)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)|Enoxaparin(DB01225)|Heparin(DB01109)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Simvastatin(DB00641)|Suramin(DB04786)|Warfarin(DB00682)|Ximelagatran(DB04898)	ACCGCTGGGTCCTCACCGCCG	0.622000														9			7		0	0	0.003080	0	0
KY	339855	broad.mit.edu	37	3	134322757	134322757	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:134322757G>A	uc010hty.3	-	10	1712	c.1650C>T	c.(1648-1650)ttC>ttT	p.F550F	KY_uc011blw.2_3'UTR|KY_uc011blx.2_Silent_p.F529F	NM_178554	NP_848649	Q8NBH2	KY_HUMAN	Homo sapiens kyphoscoliosis peptidase (KY), mRNA.	552						Z disc|cytoskeleton	peptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|lung(12)|ovary(2)|upper_aerodigestive_tract(2)	21						AATTAAAGACGAAGATGTAGT	0.517000														33			20		0	0	0.001523	0	0
ERMN	57471	broad.mit.edu	37	2	158178156	158178156	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:158178156C>T	uc002tzi.3	-	3	676	c.521G>A	c.(520-522)gGa>gAa	p.G174E	ERMN_uc010zcj.2_Missense_Mutation_p.G55E|ERMN_uc002tzh.3_Missense_Mutation_p.G161E|ERMN_uc010zck.2_Missense_Mutation_p.G141E	NM_001009959	NP_065762	Q8TAM6	ERMIN_HUMAN	Homo sapiens ermin, ERM-like protein (ERMN), transcript variant 1, mRNA.	161						cytoplasm|cytoskeleton				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12						TTTTCGAAATCCCAGCCATTC	0.428000														100			38		0	0	0.006230	0	0
ADAP2	55803	broad.mit.edu	37	17	29276332	29276332	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:29276332C>T	uc010csk.3	+	6	982	c.703C>T	c.(703-705)Cgt>Tgt	p.R235C	ADAP2_uc002hfy.3_Missense_Mutation_p.R229C|ADAP2_uc010csl.3_Non-coding_Transcript|ADAP2_uc002hfx.3_Missense_Mutation_p.R229C	NM_018404	NP_060874	Q9NPF8	ADAP2_HUMAN	Homo sapiens ArfGAP with dual PH domains 2 (ADAP2), mRNA.	229					heart development|regulation of ARF GTPase activity	mitochondrial envelope|plasma membrane	ARF GTPase activator activity|inositol 1,3,4,5 tetrakisphosphate binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding, bridging|zinc ion binding	p.?(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						CAATGCCCTCCGTGCAGCCCG	0.557000														45			30		0	0	0.004289	0	0
SALL3	27164	broad.mit.edu	37	18	76754462	76754462	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr18:76754462C>T	uc002lmt.3	+	1	2471	c.2471C>T	c.(2470-2472)tCc>tTc	p.S824F	SALL3_uc010dra.3_Missense_Mutation_p.S431F	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN	Homo sapiens sal-like 3 (Drosophila) (SALL3), mRNA.	824					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)		CCACTCCTGTCCTACGCGGGG	0.642000														18			7		0	0	0.003080	0	0
RPS6KC1	26750	broad.mit.edu	37	1	213303012	213303012	+	Silent	SNP	G	C	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:213303012G>C	uc010ptr.2	+	5	774	c.615G>C	c.(613-615)ggG>ggC	p.G205G	RPS6KC1_uc001hkd.3_Silent_p.G193G|RPS6KC1_uc010pts.2_Silent_p.G24G|RPS6KC1_uc010ptt.2_Silent_p.G24G|RPS6KC1_uc010ptu.2_Silent_p.G24G|RPS6KC1_uc010ptv.2_5'UTR|RPS6KC1_uc001hke.3_Silent_p.G24G	NM_012424	NP_036556	Q96S38	KS6C1_HUMAN	Homo sapiens ribosomal protein S6 kinase, 52kDa, polypeptide 1 (RPS6KC1), transcript variant 1, mRNA.	205					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)		CAGCACTAGGGGCTGTTGCTT	0.438000														48			5		0	0	0.001168	0	0
TICAM1	148022	broad.mit.edu	37	19	4817964	4817964	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:4817964G>A	uc002mbi.3	-	1	677	c.426C>T	c.(424-426)aaC>aaT	p.N142N	TICAM1_uc021unj.1_Silent_p.N142N	NM_182919	NP_891549	Q8IUC6	TCAM1_HUMAN	Homo sapiens toll-like receptor adaptor molecule 1 (TICAM1), mRNA.	142					I-kappaB kinase/NF-kappaB cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|apoptosis|inflammatory response|innate immune response|positive regulation of I-kappaB kinase/NF-kappaB 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	protein kinase binding|signal transducer activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		ACCCACACCGGTTTCGGGCCT	0.677000														70			26		0	0	0.001786	0	0
SNTB2	6645	broad.mit.edu	37	16	69333669	69333669	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:69333669G>A	uc002ewu.3	+	5	1542	c.1522G>A	c.(1522-1524)Gga>Aga	p.G508R	SNTB2_uc021tkg.1_Non-coding_Transcript	NM_006750	NP_006741	Q13425	SNTB2_HUMAN	Homo sapiens syntrophin, beta 2 (dystrophin-associated protein A1, 59kDa, basic component 2) (SNTB2), mRNA.	508	SU.					cell junction|dystrophin-associated glycoprotein complex|membrane fraction|microtubule|transport vesicle membrane	actin binding|calmodulin binding|protein binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	13		Ovarian(137;0.101)		OV - Ovarian serous cystadenocarcinoma(108;0.208)		TGGTCCCGAGGGAGAACTGGT	0.423000														35			21		0	0	0.004656	0	0
CPT1C	126129	broad.mit.edu	37	19	50209330	50209330	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:50209330G>A	uc010eng.3	+	10	1445	c.1129G>A	c.(1129-1131)Gaa>Aaa	p.E377K	CPT1C_uc002ppl.4_Missense_Mutation_p.E343K|CPT1C_uc002ppi.3_Missense_Mutation_p.E294K|CPT1C_uc002ppk.3_Missense_Mutation_p.E366K|CPT1C_uc010enh.3_Missense_Mutation_p.E377K|CPT1C_uc002ppj.3_Missense_Mutation_p.E377K|CPT1C_uc010ybc.1_Missense_Mutation_p.E248K|CPT1C_uc010eni.1_Missense_Mutation_p.E34K	NM_001199753	NP_001186682	Q8TCG5	CPT1C_HUMAN	Homo sapiens carnitine palmitoyltransferase 1C (CPT1C), transcript variant 4, mRNA.	377				HEEH -> RTRG (in Ref. 6; CAD38561).	fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		CCCCCACGAGGAACATCTGGC	0.632000														22			6		0	0	0.003080	0	0
TCF4	6925	broad.mit.edu	37	18	53017618	53017618	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr18:53017618C>T	uc002lga.3	-	8	887	c.827G>A	c.(826-828)cGa>cAa	p.R276Q	TCF4_uc010xdu.1_Missense_Mutation_p.R44Q|TCF4_uc010xdv.1_Missense_Mutation_p.R44Q|TCF4_uc021uki.1_Missense_Mutation_p.R103Q|TCF4_uc002lfx.2_Missense_Mutation_p.R103Q|TCF4_uc010xdw.1_Missense_Mutation_p.R44Q|TCF4_uc002lfy.2_Missense_Mutation_p.R132Q|TCF4_uc010xdx.1_Missense_Mutation_p.R150Q|TCF4_uc021ukj.1_Intron|TCF4_uc021ukk.1_Intron|TCF4_uc021ukl.1_Missense_Mutation_p.R172Q|TCF4_uc002lfz.2_Missense_Mutation_p.R174Q|TCF4_uc010dph.1_Missense_Mutation_p.R174Q|TCF4_uc010dpi.3_Missense_Mutation_p.R174Q|TCF4_uc010xdy.1_Missense_Mutation_p.R150Q|TCF4_uc002lgc.4_Missense_Mutation_p.R95Q|TCF4_uc021ukm.1_Missense_Mutation_p.E59K	NM_001243226	NP_001230155	P15884	ITF2_HUMAN	Homo sapiens transcription factor 4 (TCF4), transcript variant 3, mRNA.	174				NSS -> FR (in Ref. 5).	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)		AGGAACTTTTCGAACTTTCTT	0.368000														23			12		0	0	0.001855	0	0
DBH	1621	broad.mit.edu	37	9	136507353	136507353	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:136507353G>A	uc004cel.3	+	2	520	c.511G>A	c.(511-513)Ggg>Agg	p.G171R		NM_000787	NP_000778	P09172	DOPO_HUMAN	Homo sapiens dopamine beta-hydroxylase (dopamine beta-monooxygenase) (DBH), mRNA.	171	DOMON.				hormone biosynthetic process	chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane	L-ascorbic acid binding|dopamine beta-monooxygenase activity			central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Dopamine(DB00988)|Vitamin C(DB00126)	CTTGGTCTACGGGATCCTGGA	0.642000														23			8		0	0	0.006214	0	0
NRXN1	9378	broad.mit.edu	37	2	50318477	50318477	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:50318477G>A	uc021vhh.1	-	17	4623	c.3702C>T	c.(3700-3702)atC>atT	p.I1234I	NRXN1_uc010fbp.3_Silent_p.I199I|NRXN1_uc002rxb.4_Silent_p.I906I|NRXN1_uc021vhg.1_Silent_p.I1274I|NRXN1_uc021vhi.1_Silent_p.I1270I|NRXN1_uc021vhj.1_Silent_p.I1230I	NM_004801	NP_004792	Q9ULB1	NRX1A_HUMAN	Homo sapiens neurexin 1 (NRXN1), transcript variant alpha1, mRNA.	1234	Laminin G-like 6.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity	p.I199I(1)|p.I1234I(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GGTAGCGCTCGATCACTGGCC	0.448000														154			60		0	0	0.003610	0	0
HYDIN	54768	broad.mit.edu	37	16	71218768	71218768	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:71218768C>T	uc002ezr.3	-	3	412	c.261_splice	c.e3+1	p.K87_splice	HYDIN_uc010cfz.2_Splice_Site|HYDIN_uc021tkq.1_Splice_Site_p.K87_splice|HYDIN_uc010vmc.2_Splice_Site_p.K104_splice|HYDIN_uc010vmd.2_Splice_Site_p.K114_splice|HYDIN_uc002ezw.4_Splice_Site_p.K104_splice	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	87										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)				GAGCAGCTACCTTCTGATGTG	0.438000														106			31		0	0	0.004878	0	0
TRIO	7204	broad.mit.edu	37	5	14507328	14507328	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:14507328C>T	uc003jff.3	+	55	8716	c.8710C>T	c.(8710-8712)Cgg>Tgg	p.R2904W	TRIO_uc003jfg.3_Non-coding_Transcript	NM_007118	NP_009049	O75962	TRIO_HUMAN	Homo sapiens triple functional domain (PTPRF interacting) (TRIO), mRNA.	2904	Protein kinase.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|protein serine/threonine kinase activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					GGAAGCTGTCCGGTACCTGCA	0.642000														20			16		0	0	0.004007	0	0
LINGO4	339398	broad.mit.edu	37	1	151774361	151774361	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:151774361G>A	uc001ezf.1	-	1	1010	c.820C>T	c.(820-822)Cac>Tac	p.H274Y	LINGO4_uc021oyu.1_Missense_Mutation_p.H274Y	NM_001004432	NP_001004432	Q6UY18	LIGO4_HUMAN	Homo sapiens leucine rich repeat and Ig domain containing 4 (LINGO4), mRNA.	274						integral to membrane				breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			AAGCTGAGGTGGTACAGTGCT	0.627000														35			12		0	0	0.001368	0	0
THSD7B	80731	broad.mit.edu	37	2	137814117	137814117	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:137814117G>A	uc002tva.1	+	1	174	c.174G>A	c.(172-174)aaG>aaA	p.K58K	THSD7B_uc010zbj.1_Non-coding_Transcript|THSD7B_uc002tvb.3_5'UTR	NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GGCCTCCAAAGGAAAGAAGTT	0.542000														31			8		0	0	0.003080	0	0
FAM71B	153745	broad.mit.edu	37	5	156590038	156590038	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:156590038C>T	uc003lwn.3	-	1	1338	c.1238G>A	c.(1237-1239)gGa>gAa	p.G413E		NM_130899	NP_570969	Q8TC56	FA71B_HUMAN	Homo sapiens family with sequence similarity 71, member B (FAM71B), mRNA.	413						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)			TTTCTGGCTTCCATCTCGTTC	0.483000														329			150		0	0	0.003610	0	0
RPTN	126638	broad.mit.edu	37	1	152128337	152128337	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:152128337G>A	uc001ezs.1	-	2	1303	c.1238C>T	c.(1237-1239)tCc>tTc	p.S413F		NM_001122965	NP_001116437	Q6XPR3	RPTN_HUMAN	Homo sapiens repetin (RPTN), mRNA.	413	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						ACTGTAGTGGGAACTCTGGCC	0.522000														328			195		0	0	0.003610	0	0
ENTHD1	150350	broad.mit.edu	37	22	40217006	40217006	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr22:40217006G>A	uc003ayg.3	-	4	1075	c.824C>T	c.(823-825)tCg>tTg	p.S275L		NM_152512	NP_689725	Q8IYW4	ENTD1_HUMAN	Homo sapiens ENTH domain containing 1 (ENTHD1), mRNA.	275										breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3)	32	Melanoma(58;0.0749)					ACCTGCACCCGAAAGATTACA	0.383000														20			21		0	0	0.003954	0	0
CCDC7	221016	broad.mit.edu	37	10	32856770	32856770	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:32856770C>T	uc001iwj.3	+	15	1940	c.1370C>T	c.(1369-1371)tCa>tTa	p.S457L	CCDC7_uc001iwk.3_Missense_Mutation_p.S457L|CCDC7_uc009xlv.3_Non-coding_Transcript|C10orf68_uc001iwl.1_5'UTR|C10orf68_uc001iwm.1_5'UTR|C10orf68_uc001iwn.4_5'UTR	NM_145023	NP_659460	Q96M83	CCDC7_HUMAN	Homo sapiens coiled-coil domain containing 7 (CCDC7), transcript variant 1, mRNA.	457										NS(1)|breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(2)	14		Breast(68;0.000207)|Prostate(175;0.0107)				TCACTGGTTTCAGATTCAGGT	0.343000														58			32		0	0	0.005524	0	0
RPS6KA5	9252	broad.mit.edu	37	14	91338611	91338611	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:91338611G>A	uc001xys.2	-	16	2431	c.2216C>T	c.(2215-2217)cCt>cTt	p.P739L	RPS6KA5_uc010twi.1_Missense_Mutation_p.P660L	NM_004755	NP_004746	O75582	KS6A5_HUMAN	Homo sapiens ribosomal protein S6 kinase, 90kDa, polypeptide 5 (RPS6KA5), transcript variant 1, mRNA.	739					MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|axon guidance|epidermal growth factor receptor signaling pathway|histone phosphorylation|innate immune response|interleukin-1-mediated signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|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	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146)		Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201)		CTTAGCCAAAGGGGCCTTATC	0.468000														33			12		0	0	0.000978	0	0
KRTAP27-1	643812	broad.mit.edu	37	21	31709695	31709695	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr21:31709695T>G	uc002ynx.1	-	0	318	c.292A>C	c.(292-294)Aca>Cca	p.T98P		NM_001077711	NP_001071179	Q3LI81	KR271_HUMAN	Homo sapiens keratin associated protein 27-1 (KRTAP27-1), mRNA.	98						intermediate filament				endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|skin(1)	18						TGGCACGCTGTCCTTTCGCAG	0.498000														60			41		0	0	0.002222	0	0
DAXX	1616	broad.mit.edu	37	6	33288175	33288175	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:33288175G>A	uc003oec.3	-	3	1437	c.1233C>T	c.(1231-1233)gcC>gcT	p.A411A	ZBTB22_uc003oeb.3_5'Flank|ZBTB22_uc010juu.3_5'Flank|DAXX_uc021ywn.1_Silent_p.A411A|DAXX_uc021ywo.1_Silent_p.A411A|DAXX_uc011dre.2_Silent_p.A423A|DAXX_uc003oed.3_Silent_p.A411A|DAXX_uc011drd.2_Silent_p.A336A|DAXX_uc010juw.2_Silent_p.A336A	NM_001350	NP_001241646	Q9UER7	DAXX_HUMAN	Homo sapiens death-domain associated protein (DAXX), transcript variant 2, mRNA.	411	Necessary for interaction with USP7.				activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent	PML body|chromosome, centromeric region|cytosol|nucleolus	androgen receptor binding|heat shock protein binding|p53 binding|protein N-terminus binding|protein homodimerization activity|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						AATCCAAGGAGGCTTCGGGGG	0.552000			"""Mis, F, N"""		Pancreatic neuroendocrine tumors. Paediatric GBM									55			16		0	0	0.004990	0	0
PTPN11	5781	broad.mit.edu	37	12	112940036	112940036	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:112940036G>T	uc001ttx.3	+	13	2068	c.1688G>T	c.(1687-1689)tGt>tTt	p.C563F		NM_002834	NP_002825	Q06124	PTN11_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 11 (PTPN11), mRNA.	567					T cell costimulation|axon guidance|cell junction assembly|ephrin receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|platelet activation|regulation of cell adhesion mediated by integrin|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytosol	non-membrane spanning protein tyrosine phosphatase activity|protein binding			NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3)	451						CTCCCGCCTTGTACTCCAACG	0.413000			Mis		"""JMML, AML, MDS"""		Noonan Syndrome		Noonan syndrome					81			38		3.54909e-21	4.31988e-21	0.002852	1	0
CNTNAP5	129684	broad.mit.edu	37	2	125521320	125521320	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:125521320A>C	uc010flu.3	+	14	2670	c.2306A>C	c.(2305-2307)gAc>gCc	p.D769A	CNTNAP5_uc002tno.3_Missense_Mutation_p.D768A	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	Homo sapiens contactin associated protein-like 5 (CNTNAP5), mRNA.	768	Fibrinogen C-terminal.				cell adhesion|signal transduction	integral to membrane	receptor binding			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)		ACTGATACCGACAGATCAAAC	0.408000														16			5		0	0	0.000602	0	0
NPAT	4863	broad.mit.edu	37	11	108043607	108043607	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:108043607G>A	uc001pjz.4	-	12	2206	c.2104C>T	c.(2104-2106)Cct>Tct	p.P702S	NPAT_uc010rvv.2_5'Flank|NPAT_uc001pka.3_Missense_Mutation_p.P497S	NM_002519	NP_002510	Q14207	NPAT_HUMAN	Homo sapiens nuclear protein, ataxia-telangiectasia locus (NPAT), mRNA.	702					positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		GATTCTGGAGGAAGAGAGTGA	0.433000														30			11		0	0	0.001855	0	0
NUP54	53371	broad.mit.edu	37	4	77036570	77036570	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:77036570G>A	uc003hjs.3	-	11	1601	c.1473C>T	c.(1471-1473)gtC>gtT	p.V491V	NUP54_uc010ije.3_Silent_p.V209V|NUP54_uc011cbs.2_Silent_p.V311V|NUP54_uc011cbt.2_Silent_p.V443V|NUP54_uc003hjt.3_Silent_p.V275V	NM_017426	NP_059122	Q7Z3B4	NUP54_HUMAN	Homo sapiens nucleoporin 54kDa (NUP54), mRNA.	491					carbohydrate metabolic process|glucose transport|mRNA transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleoplasm				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(3)|skin(1)|stomach(1)	19						ATCCATGTTCGACCAGCTTTA	0.368000														36			19		0	0	0.008871	0	0
PSKH1	5681	broad.mit.edu	37	16	67942834	67942834	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:67942834C>T	uc002euv.3	+	1	352	c.182C>T	c.(181-183)cCc>cTc	p.P61L	PSKH1_uc010cet.2_Missense_Mutation_p.P61L	NM_006742	NP_006733	P11801	KPSH1_HUMAN	Homo sapiens protein serine kinase H1 (PSKH1), mRNA.	61						Golgi apparatus|endoplasmic reticulum membrane|microtubule organizing center|nuclear speck|plasma membrane	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(2)|large_intestine(1)|lung(7)|pancreas(1)	12		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0044)|Epithelial(162;0.0197)|all cancers(182;0.128)		TATGCACACCCCTGCCCCGGT	0.597000														14			4		0	0	0.000248	0	0
C2orf55	343990	broad.mit.edu	37	2	99439606	99439606	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:99439606G>A	uc002szf.1	-	6	1424	c.1130C>T	c.(1129-1131)cCc>cTc	p.P377L		NM_207362	NP_997245	Q6NV74	CB055_HUMAN	Homo sapiens chromosome 2 open reading frame 55 (C2orf55), mRNA.	377	Pro-rich.									NS(1)|breast(1)|endometrium(8)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28						CGGGCCTGCGGGGGGCGCCTC	0.756000														8			7		0	0	0.008291	0	0
FAM75C2	645961	broad.mit.edu	37	9	90747101	90747101	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:90747101G>A	uc011lti.2	-	3	880	c.851C>T	c.(850-852)tCt>tTt	p.S284F		NM_001166137	NP_001159609	B4DYI2	B4DYI2_HUMAN	Homo sapiens family with sequence similarity 75, member C2 (FAM75C2), mRNA.	284																	GGAGAGGGCAGAAACTTGACT	0.552000														45			18		0	0	0.004990	0	0
NEB	4703	broad.mit.edu	37	2	152500996	152500996	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:152500996C>T	uc021vrb.1	-	53	7659	c.7630G>A	c.(7630-7632)Gaa>Aaa	p.E2544K	NEB_uc002txu.3_Missense_Mutation_p.E2544K|NEB_uc021vrc.1_Missense_Mutation_p.E2544K|NEB_uc010fnx.3_Missense_Mutation_p.E2544K|NEB_uc021vrd.1_Missense_Mutation_p.E2544K	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	2544					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			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)		CTGGCAATTTCCCGGGAGGCT	0.358000														52			43		0	0	0.003214	0	0
ESRP1	54845	broad.mit.edu	37	8	95658469	95658469	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:95658469C>T	uc003ygq.4	+	3	632	c.449C>T	c.(448-450)tCa>tTa	p.S150L	ESRP1_uc003ygr.4_Missense_Mutation_p.S150L|ESRP1_uc003ygs.4_Missense_Mutation_p.S150L|ESRP1_uc003ygt.4_Missense_Mutation_p.S150L|ESRP1_uc003ygu.4_Missense_Mutation_p.S150L|ESRP1_uc003ygv.3_5'UTR|ESRP1_uc003ygw.3_5'UTR	NM_017697	NP_060167	Q6NXG1	ESRP1_HUMAN	Homo sapiens epithelial splicing regulatory protein 1 (ESRP1), transcript variant 1, mRNA.	150					RNA splicing|mRNA processing|regulation of RNA splicing	nucleus|plasma membrane	mRNA binding|nucleotide binding		ESRP1/RAF1(4)	NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2)	20						TGCCCTGGTTCACCTGATATT	0.348000														299			142		0	0	0.003610	0	0
CACNA2D3	55799	broad.mit.edu	37	3	54798247	54798247	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:54798247T>A	uc003dhf.3	+	12	1297	c.1249T>A	c.(1249-1251)Ttt>Att	p.F417I	CACNA2D3_uc011beu.1_Non-coding_Transcript|CACNA2D3_uc003dhg.1_Missense_Mutation_p.F323I|CACNA2D3_uc003dhh.1_Non-coding_Transcript|CACNA2D3_uc010hmv.1_Missense_Mutation_p.F151I	NM_018398	NP_060868	Q8IZS8	CA2D3_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 3 (CACNA2D3), mRNA.	417	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)		TTTGACAGGATTTTTTACCCA	0.478000														55			76		0	0	0.003610	0	0
OR11H1	81061	broad.mit.edu	37	22	16449062	16449062	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr22:16449062C>T	uc011agd.2	-	0	743	c.743G>A	c.(742-744)gGg>gAg	p.G248E		NM_001005239	NP_001005239	Q8NG94	O11H1_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily H, member 1 (OR11H1), mRNA.	248					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G248W(1)		central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|skin(1)	11	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.208)		Kidney(3;0.00216)|KIRC - Kidney renal clear cell carcinoma(3;0.00244)|Lung(27;0.0724)|COAD - Colon adenocarcinoma(3;0.211)		CTTATGTCTCCCAGTGCTTGA	0.433000														139			63		0	0	0.003610	0	0
SCAND3	114821	broad.mit.edu	37	6	28554492	28554492	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:28554492C>T	uc003nlo.3	-	0	621	c.3G>A	c.(1-3)atG>atA	p.M1I	AK056211_uc003nlp.1_5'Flank	NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN	Homo sapiens SCAN domain containing 3 (SCAND3), mRNA.	1					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						AGACTGCTTCCATCCCGAGCT	0.488000														40			16		0	0	0.004990	0	0
PKD1L2	114780	broad.mit.edu	37	16	81236305	81236305	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:81236305G>A	uc002fgh.1	-	5	943	c.943C>T	c.(943-945)Cct>Tct	p.P315S	PKD1L2_uc002fgj.3_Missense_Mutation_p.P315S	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN	Homo sapiens polycystic kidney disease 1-like 2 (PKD1L2), transcript variant 1, mRNA.	315					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						AATTCCCCAGGAGATGTGAAC	0.532000														21			9		0	0	0.006214	0	0
GPRIN2	9721	broad.mit.edu	37	10	46999436	46999436	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:46999436G>A	uc001jec.3	+	2	691	c.556G>A	c.(556-558)Gcc>Acc	p.A186T	GPRIN2_uc021ppt.1_Missense_Mutation_p.A186T	NM_014696	NP_055511	O60269	GRIN2_HUMAN	Homo sapiens G protein regulated inducer of neurite outgrowth 2 (GPRIN2), mRNA.	186										breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						TTCTAACTCAGCCTGGATGCT	0.632000														30			5		0	0	0.001984	0	0
SHROOM2	357	broad.mit.edu	37	X	9863835	9863835	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chrX:9863835C>T	uc004csu.1	+	3	1977	c.1887C>T	c.(1885-1887)acC>acT	p.T629T		NM_001649	NP_001640	Q13796	SHRM2_HUMAN	Homo sapiens shroom family member 2 (SHROOM2), mRNA.	629					apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				TTGCCACCACCCTGCGGAATG	0.662000														6			7		0	0	0.001984	0	0
CAMK1	8536	broad.mit.edu	37	3	9802388	9802389	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:9802388_9802389CC>TT	uc003bst.3	-	7	881_882	c.696_697GG>AA	c.(694-699)aaggcc>aaAAcc	p.A233T	OGG1_uc003bsl.3_Intron|OGG1_uc003bsk.3_Intron|OGG1_uc003bsm.3_Intron|OGG1_uc003bsn.3_Intron|OGG1_uc003bso.3_Intron|CAMK1_uc003bss.3_5'Flank|AX748417_uc003bsv.1_5'Flank	NM_003656	NP_003647	Q14012	KCC1A_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase I (CAMK1), mRNA.	233	Protein kinase.				cell differentiation|nervous system development|positive regulation of muscle cell differentiation|signal transduction	cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	12	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.0475)		TCGTACTCGGCCTTCAAAATCT	0.515000														35			19		0	0	0.004672	0	0
SEMA5A	9037	broad.mit.edu	37	5	9051999	9051999	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:9051999G>A	uc003jek.2	-	19	3543	c.2831C>T	c.(2830-2832)tCt>tTt	p.S944F		NM_003966	NP_003957	Q13591	SEM5A_HUMAN	Homo sapiens sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A (SEMA5A), mRNA.	944	TSP type-1 7.				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						GATGAAATTAGAGTCAAACAC	0.498000														37			15		0	0	0.003163	0	0
SCFD1	23256	broad.mit.edu	37	14	31142536	31142536	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:31142536C>T	uc001wqm.1	+	11	1093	c.1069C>T	c.(1069-1071)Cga>Tga	p.R357*	SCFD1_uc001wqn.1_Nonsense_Mutation_p.R290*|SCFD1_uc010tpg.1_Nonsense_Mutation_p.R298*|SCFD1_uc010tph.1_Nonsense_Mutation_p.R172*|SCFD1_uc010amf.1_Nonsense_Mutation_p.R172*|SCFD1_uc010tpi.1_Nonsense_Mutation_p.R265*|SCFD1_uc010amd.1_Nonsense_Mutation_p.R189*	NM_016106	NP_057190	Q8WVM8	SCFD1_HUMAN	Homo sapiens sec1 family domain containing 1 (SCFD1), transcript variant 1, mRNA.	357					post-Golgi vesicle-mediated transport|protein transport|regulation of ER to Golgi vesicle-mediated transport|response to toxin|retrograde vesicle-mediated transport, Golgi to ER|vesicle docking involved in exocytosis	Golgi cisterna membrane|Golgi-associated vesicle|cis-Golgi network|endoplasmic reticulum membrane|plasma membrane	syntaxin-5 binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)	13	Hepatocellular(127;0.0877)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)	GBM - Glioblastoma multiforme(265;0.0181)		TGAGGTCAAACGACTTAAAAG	0.348000														49			23		0	0	0.005443	0	0
TBC1D9B	23061	broad.mit.edu	37	5	179321405	179321405	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:179321405G>A	uc003mlh.3	-	3	593	c.558C>T	c.(556-558)tcC>tcT	p.S186S	TBC1D9B_uc003mli.3_Silent_p.S186S|TBC1D9B_uc003mlj.3_Silent_p.S186S	NM_198868	NP_942568	Q66K14	TBC9B_HUMAN	Homo sapiens TBC1 domain family, member 9B (with GRAM domain) (TBC1D9B), transcript variant 1, mRNA.	186	GRAM 1.					integral to membrane|intracellular	Rab GTPase activator activity|calcium ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	28	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCAGCAGGAAGGAGTAGAAGC	0.652000														21			7		0	0	0.001984	0	0
CCDC88C	440193	broad.mit.edu	37	14	91739898	91739898	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:91739898C>T	uc010aty.3	-	29	5312	c.5158G>A	c.(5158-5160)Gaa>Aaa	p.E1720K	CCDC88C_uc001xzj.3_Missense_Mutation_p.E244K|CCDC88C_uc001xzi.3_Missense_Mutation_p.E170K	NM_001080414	NP_001073883	Q9P219	DAPLE_HUMAN	Homo sapiens coiled-coil domain containing 88C (CCDC88C), mRNA.	1720					Wnt receptor signaling pathway|microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation	cytoplasm|insoluble fraction	PDZ domain binding|microtubule binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				TTGGCCCCTTCTTTCTTGGCA	0.637000														32			10		0	0	0.000978	0	0
ARHGEF17	9828	broad.mit.edu	37	11	73022671	73022671	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:73022671C>T	uc001otu.3	+	0	3009	c.2988C>T	c.(2986-2988)ccC>ccT	p.P996P		NM_014786	NP_055601	Q96PE2	ARHGH_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 17 (ARHGEF17), mRNA.	996	Pro-rich.				actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						GAGCCCATCCCACGTTGCAGG	0.607000														31			14		0	0	0.002450	0	0
SERPINA11	256394	broad.mit.edu	37	14	94914509	94914509	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:94914509C>T	uc001ydd.1	-	1	663	c.603G>A	c.(601-603)caG>caA	p.Q201Q		NM_001080451	NP_001073920	Q86U17	SPA11_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11 (SERPINA11), mRNA.	201					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	p.C201*(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(14)|skin(1)|upper_aerodigestive_tract(1)	24				COAD - Colon adenocarcinoma(157;0.211)		TGAACGTGTCCTGGCTGAACT	0.468000														98			42		0	0	0.008740	0	0
DDC	1644	broad.mit.edu	37	7	50537803	50537803	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:50537803C>T	uc003tpg.4	-	11	1309	c.1108G>A	c.(1108-1110)Gga>Aga	p.G370R	DDC_uc022ade.1_Missense_Mutation_p.G292R|DDC_uc003tpf.4_Missense_Mutation_p.G370R|DDC_uc022adb.1_Missense_Mutation_p.G332R|DDC_uc022adc.1_Missense_Mutation_p.G322R|DDC_uc022add.1_Missense_Mutation_p.G277R	NM_001082971	NP_001076440	P20711	DDC_HUMAN	Homo sapiens dopa decarboxylase (aromatic L-amino acid decarboxylase) (DDC), transcript variant 1, mRNA.	370					cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding			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)	CCTTTGACTCCATACATCCTA	0.393000														57			14		0	0	0.003163	0	0
ATR	545	broad.mit.edu	37	3	142253975	142253975	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:142253975C>T	uc003eux.4	-	20	4014	c.3892G>A	c.(3892-3894)Gat>Aat	p.D1298N		NM_001184	NP_001175	Q13535	ATR_HUMAN	Homo sapiens ataxia telangiectasia and Rad3 related (ATR), mRNA.	1298					DNA damage checkpoint|DNA repair|DNA replication|cell cycle|cellular response to UV|cellular response to gamma radiation|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						ATACGAACATCGACATTTTCA	0.358000								Other conserved DNA damage response genes						76			23		0	0	0.006320	0	0
DMRT3	58524	broad.mit.edu	37	9	990519	990519	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:990519G>A	uc003zgw.1	+	1	971	c.933G>A	c.(931-933)ggG>ggA	p.G311G		NM_021240	NP_067063	Q9NQL9	DMRT3_HUMAN	Homo sapiens doublesex and mab-3 related transcription factor 3 (DMRT3), mRNA.	311					cell differentiation|multicellular organismal development|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)		Lung(218;0.0196)		CCTCCAATGGGCACATCTTTG	0.562000														37			8		0	0	0.006214	0	0
CRNKL1	51340	broad.mit.edu	37	20	20033190	20033190	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr20:20033190C>T	uc002wrs.3	-	1	312	c.280G>A	c.(280-282)Gag>Aag	p.E94K	C20orf26_uc010gcw.2_5'UTR|C20orf26_uc010zse.2_5'UTR|C20orf26_uc002wru.3_5'UTR|CRNKL1_uc002wrt.1_Missense_Mutation_p.E82K	NM_016652	NP_057736	Q9BZJ0	CRNL1_HUMAN	Homo sapiens crooked neck pre-mRNA splicing factor-like 1 (Drosophila) (CRNKL1), mRNA.	94					spliceosome assembly	catalytic step 2 spliceosome|cytoplasm|nuclear speck	RNA binding			breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6)	45						TGCGCGTCCTCCTTGCGGCAG	0.662000														40			24		0	0	0.002780	0	0
MTMR3	8897	broad.mit.edu	37	22	30418657	30418657	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr22:30418657C>T	uc003agv.4	+	18	3724	c.3396C>T	c.(3394-3396)ttC>ttT	p.F1132F	MTMR3_uc003agu.4_Silent_p.F1095F|MTMR3_uc003agw.4_Silent_p.F1095F	NM_021090	NP_066576	Q13615	MTMR3_HUMAN	Homo sapiens myotubularin related protein 3 (MTMR3), transcript variant 3, mRNA.	1132					phosphatidylinositol dephosphorylation	cytoplasm|membrane|membrane fraction|nucleus	metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			ACAGTGCCTTCTGGCTTGCCA	0.612000														20			7		0	0	0.004482	0	0
FAM187B	148109	broad.mit.edu	37	19	35719419	35719419	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:35719419G>A	uc002nyk.1	-	0	210	c.165C>T	c.(163-165)ttC>ttT	p.F55F		NM_152481	NP_689694	Q17R55	F187B_HUMAN	Homo sapiens family with sequence similarity 187, member B (FAM187B), mRNA.	55						integral to membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	9						TGCCTTGTGTGAATAAATAGT	0.512000														49			28		0	0	0.001786	0	0
CEP85	64793	broad.mit.edu	37	1	26584097	26584098	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:26584097_26584098GG>AA	uc001bls.1	+	4	1044_1045	c.913_914GG>AA	c.(913-915)gga>AAa	p.G305K	CEP85_uc001blr.3_Missense_Mutation_p.G305K|CEP85_uc010ofa.1_Missense_Mutation_p.G254K	NM_022778	NP_073615	Q6P2H3	CEP85_HUMAN	Homo sapiens centrosomal protein 85kDa (CEP85), mRNA.	305						centrosome|nucleolus|spindle pole				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(11)|skin(2)	25						GCTTCAGAATGGAGCCATCTGC	0.495000														161			88		0	0	0.004672	0	0
CHAF1A	10036	broad.mit.edu	37	19	4429773	4429773	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:4429773C>T	uc002mal.3	+	9	1942	c.1842C>T	c.(1840-1842)tcC>tcT	p.S614S		NM_005483	NP_005474	Q13111	CAF1A_HUMAN	Homo sapiens chromatin assembly factor 1, subunit A (p150) (CHAF1A), mRNA.	614					DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|cell cycle|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|WINAC complex	chromatin binding|chromo shadow domain binding|unfolded protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		AGTCCCTGTCCCACAGTGAGG	0.557000								Chromatin Structure						69			26		0	0	0.007291	0	0
ZNF474	133923	broad.mit.edu	37	5	121488489	121488490	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:121488489_121488490CC>TT	uc003ksv.3	+	1	1180_1181	c.804_805CC>TT	c.(802-807)cccctt>ccTTtt	p.L269F	ZNF474_uc021ycy.1_Missense_Mutation_p.L269F	NM_207317	NP_997200	Q6S9Z5	ZN474_HUMAN	Homo sapiens zinc finger protein 474 (ZNF474), mRNA.	269						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)		AGCCTCAGCCCCTTCCGAATGC	0.545000														28			12		0	0	0.004672	0	0
SLC36A3	285641	broad.mit.edu	37	5	150666847	150666847	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:150666847G>A	uc003ltx.2	-	6	1210	c.791C>T	c.(790-792)aCc>aTc	p.T264I	SLC36A3_uc003ltv.2_Missense_Mutation_p.T208I|SLC36A3_uc003ltw.2_Missense_Mutation_p.T223I	NM_001145017	NP_001138489	Q495N2	S36A3_HUMAN	Homo sapiens solute carrier family 36 (proton/amino acid symporter), member 3 (SLC36A3), transcript variant 1, mRNA.	223						integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	21		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCTCCCAAGGGTGGTGATGTT	0.512000														36			18		0	0	0.001523	0	0
SMARCAL1	50485	broad.mit.edu	37	2	217297570	217297570	+	Silent	SNP	C	T	T	rs139469074		TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:217297570C>T	uc002vgc.4	+	7	1794	c.1464C>T	c.(1462-1464)tcC>tcT	p.S488S	SMARCAL1_uc002vgd.4_Silent_p.S488S|SMARCAL1_uc010fvg.3_Silent_p.S488S	NM_014140	NP_054859	Q9NZC9	SMAL1_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1 (SMARCAL1), transcript variant 1, mRNA.	488	Helicase ATP-binding.				DNA metabolic process|chromatin modification|regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1)	42		Renal(323;0.0458)		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)		TGCCATCCTCCGTGCGCTTCA	0.517000									Schimke Immuno-Osseous Dysplasia					70			38		0	0	0.002522	0	0
SUSD4	55061	broad.mit.edu	37	1	223465924	223465924	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:223465924C>T	uc001hnx.3	-	1	852	c.218G>A	c.(217-219)gGg>gAg	p.G73E	SUSD4_uc001hny.4_Missense_Mutation_p.G73E|SUSD4_uc010puw.2_5'UTR|SUSD4_uc001hnz.2_Missense_Mutation_p.G73E|SUSD4_uc010pux.1_Intron	NM_017982	NP_060452	Q5VX71	SUSD4_HUMAN	Homo sapiens sushi domain containing 4 (SUSD4), transcript variant 1, mRNA.	73	Sushi 1.					integral to membrane		p.G72G(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(131;0.0611)		AAAGAAAACCCCTCCGCTGGG	0.507000														68			23		0	0	0.002780	0	0
OR4D6	219983	broad.mit.edu	37	11	59224522	59224522	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:59224522T>G	uc010rku.2	+	0	89	c.89T>G	c.(88-90)gTc>gGc	p.V30G		NM_001004708	NP_001004708	Q8NGJ1	OR4D6_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 6 (OR4D6), mRNA.	30					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	34						TTGTTTGTGGTCTTCTTTGCT	0.463000														92			46		0	0	0.003610	0	0
USP36	57602	broad.mit.edu	37	17	76799751	76799751	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:76799751C>T	uc002jvz.1	-	15	2851	c.2526G>A	c.(2524-2526)ggG>ggA	p.G842G	USP36_uc002jwa.1_Silent_p.G842G|USP36_uc002jwb.1_Silent_p.G454G|USP36_uc002jwc.1_Silent_p.G542G|USP36_uc002jvy.1_5'Flank	NM_025090	NP_079366	Q9P275	UBP36_HUMAN	Homo sapiens ubiquitin specific peptidase 36 (USP36), mRNA.	842					ubiquitin-dependent protein catabolic process	nucleolus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34			BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)			tcttcctcttcCCGTGGGGAG	0.632000														12			6		0	0	0.001168	0	0
COL22A1	169044	broad.mit.edu	37	8	139824047	139824047	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:139824047C>T	uc003yvd.3	-	8	1891	c.1444G>A	c.(1444-1446)Gag>Aag	p.E482K		NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	Homo sapiens collagen, type XXII, alpha 1 (COL22A1), mRNA.	482	Collagen-like 1.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			AATACCTTCTCTCCAGCTGGG	0.602000										HNSCC(7;0.00092)				36			19		0	0	0.002299	0	0
AICDA	57379	broad.mit.edu	37	12	8758041	8758041	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:8758041G>A	uc001qur.2	-	2	276	c.197C>T	c.(196-198)tCg>tTg	p.S66L	AICDA_uc001qup.1_Missense_Mutation_p.S61L|AICDA_uc001quq.1_Missense_Mutation_p.S61L|AICDA_uc009zgd.1_Intron	NM_020661	NP_065712	Q9GZX7	AICDA_HUMAN	Homo sapiens activation-induced cytidine deaminase (AICDA), mRNA.	66					B cell differentiation|DNA demethylation|mRNA processing|negative regulation of methylation-dependent chromatin silencing	cytoplasm	cytidine deaminase activity|protein binding|zinc ion binding	p.I65I(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)	16	Lung SC(5;0.184)					GTCCCAGTCCGAGATGTAGCG	0.587000														46			15		0	0	0.004007	0	0
KRTAP4-3	85290	broad.mit.edu	37	17	39323977	39323977	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:39323977A>C	uc010cxl.3	-	0	448	c.448T>G	c.(448-450)Tgc>Ggc	p.C150G		NM_033187	NP_149443	Q9BYR4	KRA43_HUMAN	Homo sapiens keratin associated protein 4-3 (KRTAP4-3), mRNA.	150	29 X 5 AA repeats of C-C-[GIKRQVH]-[SPT]- [STA].					keratin filament				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	12		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			GCCGGGCGGCAGCAGGAGGGC	0.627000														6			4		0	0	0.000248	0	0
MS4A10	341116	broad.mit.edu	37	11	60558512	60558512	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:60558512G>A	uc001npz.1	+	2	345	c.249G>A	c.(247-249)aaG>aaA	p.K83K		NM_206893	NP_996776	Q96PG2	M4A10_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 10 (MS4A10), mRNA.	83						integral to membrane	receptor activity	p.K83K(2)		endometrium(1)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|skin(2)	21						CTATAGTCAAGAACCTTCACC	0.582000														89			26		0	0	0.008361	0	0
ABHD16A	7920	broad.mit.edu	37	6	31656841	31656841	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:31656841G>A	uc003nvy.2	-	12	1216	c.1137C>T	c.(1135-1137)tcC>tcT	p.S379S	ABHD16A_uc003nvx.2_Silent_p.S160S|ABHD16A_uc011dny.2_Silent_p.S346S|ABHD16A_uc010jtc.2_Silent_p.S160S|ABHD16A_uc011dnz.2_Silent_p.S160S	NM_021160	NP_066983	O95870	ABHGA_HUMAN	Homo sapiens abhydrolase domain containing 16A (ABHD16A), transcript variant 1, mRNA.	379						integral to membrane	hydrolase activity|protein binding			endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	10						GGTCATCAAAGGAGGCATCCA	0.587000														136			60		0	0	0.003610	0	0
HCN2	610	broad.mit.edu	37	19	615843	615843	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:615843C>T	uc002lpe.3	+	7	2092	c.2039C>T	c.(2038-2040)tCg>tTg	p.S680L		NM_001194	NP_001185	Q9UL51	HCN2_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 2 (HCN2), mRNA.	680					cell-cell signaling|muscle contraction	voltage-gated potassium channel complex	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			endometrium(5)|lung(4)	9		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		GACCTCAACTCGGGCGTATTC	0.612000														24			12		0	0	0.001855	0	0
MUC17	140453	broad.mit.edu	37	7	100686970	100686970	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:100686970C>T	uc003uxp.1	+	2	12326	c.12273C>T	c.(12271-12273)acC>acT	p.T4091T	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	4091						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)					CTGTCACCACCATGACCACCA	0.562000														43			21		0	0	0.001523	0	0
STAG1	10274	broad.mit.edu	37	3	136152423	136152423	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:136152423G>A	uc003era.1	-	15	1917	c.1625C>T	c.(1624-1626)cCa>cTa	p.P542L	STAG1_uc003erb.1_Missense_Mutation_p.P542L|STAG1_uc003erc.1_Missense_Mutation_p.P316L|STAG1_uc010hua.1_Missense_Mutation_p.P405L	NM_005862	NP_005853	Q8WVM7	STAG1_HUMAN	Homo sapiens stromal antigen 1 (STAG1), mRNA.	542					cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						CCTTCCCACTGGAGGATGTGC	0.378000														56			19		0	0	0.002780	0	0
LRRC1	55227	broad.mit.edu	37	6	53743805	53743805	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:53743805C>T	uc003pcd.1	+	2	813	c.292C>T	c.(292-294)Cca>Tca	p.P98S		NM_018214	NP_060684	Q9BTT6	LRRC1_HUMAN	Homo sapiens leucine rich repeat containing 1 (LRRC1), mRNA.	98						cytoplasm|membrane				cervix(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Lung NSC(77;0.0147)			BRCA - Breast invasive adenocarcinoma(397;0.0745)		TCCTGAAATTCCAGAAAGCAT	0.393000														19			4		0	0	0.000248	0	0
COL11A1	1301	broad.mit.edu	37	1	103427776	103427776	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:103427776C>T	uc001dum.3	-	39	3424	c.3106G>A	c.(3106-3108)Gga>Aga	p.G1036R	COL11A1_uc001duk.3_Missense_Mutation_p.G220R|COL11A1_uc001dul.3_Missense_Mutation_p.G1024R|COL11A1_uc001dun.3_Missense_Mutation_p.G985R|COL11A1_uc009weh.3_Missense_Mutation_p.G908R	NM_080629	NP_542196	P12107	COBA1_HUMAN	Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript variant B, mRNA.	1024	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)		CCACGTAATCCTGCTGGTCCA	0.388000														94			35		0	0	0.008740	0	0
DTNA	1837	broad.mit.edu	37	18	32455319	32455319	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr18:32455319C>T	uc010dmn.1	+	16	1780	c.1779C>T	c.(1777-1779)tcC>tcT	p.S593S	DTNA_uc002kxw.2_Silent_p.S536S|DTNA_uc002kxz.2_Silent_p.S540S|DTNA_uc002kxy.2_Silent_p.S533S|DTNA_uc010dmj.3_Silent_p.S533S|DTNA_uc010xby.1_Silent_p.S283S|DTNA_uc002kye.3_Silent_p.S241S|DTNA_uc010xca.2_Silent_p.S245S|DTNA_uc010xbz.2_Silent_p.S302S	NM_001390	NP_001381	Q9Y4J8	DTNA_HUMAN	Homo sapiens dystrobrevin, alpha (DTNA), transcript variant 1, mRNA.	593					neuromuscular synaptic transmission|signal transduction|striated muscle contraction	cell junction|cytoplasm|synapse	calcium ion binding|protein binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						CGCAGGACTCCCTCACAGGAG	0.562000														47			20		0	0	0.002780	0	0
DEFB112	245915	broad.mit.edu	37	6	50016297	50016297	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:50016297G>A	uc011dws.2	-	0	68	c.68C>T	c.(67-69)tCc>tTc	p.S23F		NM_001037498	NP_001032587	Q30KQ8	DB112_HUMAN	Homo sapiens defensin, beta 112 (DEFB112), mRNA.	23					defense response to bacterium	extracellular region				central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	19	Lung NSC(77;0.042)					AAATATTGTGGAAGATGTATT	0.333000														63			18		0	0	0.001523	0	0
ABCA2	20	broad.mit.edu	37	9	139917473	139917473	+	Silent	SNP	G	C	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:139917473G>C	uc004ckm.1	-	3	332	c.282C>G	c.(280-282)gcC>gcG	p.A94A	ABCA2_uc022bpy.1_5'UTR|ABCA2_uc022bpz.1_Silent_p.A65A|ABCA2_uc011mem.1_Silent_p.A64A|ABCA2_uc004ckl.1_5'UTR|ABCA2_uc004cko.1_5'UTR|ABCA2_uc010nca.3_5'UTR	NM_212533	NP_997698	Q9BZC7	ABCA2_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 2 (ABCA2), transcript variant 2, mRNA.	64					cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		GCAGGATGCCGGCAGACGTCA	0.657000														6			3		0	0	0.004672	0	0
RIMBP2	23504	broad.mit.edu	37	12	130927050	130927050	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:130927050C>T	uc001uil.2	-	7	1012	c.796G>A	c.(796-798)Gac>Aac	p.D266N	RIMBP2_uc001uim.3_Missense_Mutation_p.D174N	NM_015347	NP_056162	O15034	RIMB2_HUMAN	Homo sapiens RIMS binding protein 2 (RIMBP2), mRNA.	266						cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		GAGTGGAGGTCCAGGATGTGC	0.592000														58			32		0	0	0.003271	0	0
RGS21	431704	broad.mit.edu	37	1	192335101	192335101	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:192335101A>T	uc001gsh.3	+	4	480	c.306A>T	c.(304-306)gaA>gaT	p.E102D		NM_001039152	NP_001034241	Q2M5E4	RGS21_HUMAN	Homo sapiens regulator of G-protein signaling 21 (RGS21), mRNA.	102	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						ATATTGCTGAACCAACACTCA	0.348000														74			32		0	0	0.005524	0	0
ADCY9	115	broad.mit.edu	37	16	4042190	4042190	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:4042190C>T	uc002cvx.3	-	4	2703	c.2164G>A	c.(2164-2166)Gag>Aag	p.E722K		NM_001116	NP_001107	O60503	ADCY9_HUMAN	Homo sapiens adenylate cyclase 9 (ADCY9), mRNA.	722					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						TCCGTTTTCTCCCGGATGTTC	0.552000														57			20		0	0	0.002299	0	0
PRDM1	639	broad.mit.edu	37	6	106547183	106547183	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:106547183C>T	uc003prd.2	+	3	654	c.420C>T	c.(418-420)tcC>tcT	p.S140S	PRDM1_uc003pre.3_Silent_p.S6S	NM_001198	NP_001189	O75626	PRDM1_HUMAN	Homo sapiens PR domain containing 1, with ZNF domain (PRDM1), transcript variant 1, mRNA.	140	SET.				negative regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)		AGATCTATTCCAGAGGGGAGC	0.498000			"""D, N, Mis, F, S"""		DLBCL									56			24		0	0	0.005443	0	0
OR5H15	403274	broad.mit.edu	37	3	97888442	97888442	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:97888442C>T	uc011bgu.2	+	0	899	c.899C>T	c.(898-900)tCa>tTa	p.S300L		NM_001005515	NP_001005515	A6NDH6	O5H15_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily H, member 15 (OR5H15), mRNA.	300					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S300L(2)		NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1)	35						GTCATAGTTTCATTCATAAAA	0.308000														43			13		0	0	0.001368	0	0
FAM179A	165186	broad.mit.edu	37	2	29259574	29259574	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:29259574G>A	uc010ezl.3	+	17	2937	c.2586G>A	c.(2584-2586)ggG>ggA	p.G862G	FAM179A_uc010ymm.2_Silent_p.G807G|FAM179A_uc002rmr.4_Silent_p.G389G|FAM179A_uc002rms.1_Silent_p.G160G	NM_199280	NP_954974	Q6ZUX3	F179A_HUMAN	Homo sapiens family with sequence similarity 179, member A (FAM179A), mRNA.	862							binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						AGAACTCAGGGATTTACGCTG	0.577000														21			6		0	0	0.001168	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37431154	37431154	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:37431154A>C	uc021ppc.1	+	6	1260	c.1161A>C	c.(1159-1161)gaA>gaC	p.E387D	ANKRD30A_uc001iza.1_Missense_Mutation_p.E387D	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	443						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						AAGTTTTGGAAAAAGGAAGAT	0.378000														46			11		0	0	0.008291	0	0
CARNS1	57571	broad.mit.edu	37	11	67191509	67191509	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:67191509G>A	uc001olc.4	+	7	3518	c.2338G>A	c.(2338-2340)Gcg>Acg	p.A780T	PPP1CA_uc001okx.1_5'Flank|CARNS1_uc010rpr.2_Missense_Mutation_p.A764T|CARNS1_uc009yrp.3_Missense_Mutation_p.A641T|CARNS1_uc021qmh.1_Missense_Mutation_p.A199T	NM_020811	NP_065862	A5YM72	CRNS1_HUMAN	Homo sapiens carnosine synthase 1 (CARNS1), transcript variant 2, mRNA.	641					carnosine biosynthetic process		ATP binding|carnosine synthase activity|metal ion binding	p.A764T(1)|p.A199T(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)	11						CACTGAGACGGCGGCCTGCAT	0.642000														13			8		0	0	0.004482	0	0
ITGA8	8516	broad.mit.edu	37	10	15590465	15590465	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:15590465T>C	uc001ioc.1	-	26	2869	c.2869A>G	c.(2869-2871)Acc>Gcc	p.T957A	ITGA8_uc010qcb.1_Missense_Mutation_p.T942A	NM_003638	NP_003629	P53708	ITA8_HUMAN	Homo sapiens integrin, alpha 8 (ITGA8), mRNA.	957					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						TGGAGGAAGGTGTGGGCCCAT	0.473000														39			15		0	0	0.003163	0	0
C14orf21	161424	broad.mit.edu	37	14	24769719	24769719	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:24769719C>T	uc001wol.1	+	1	416	c.353C>T	c.(352-354)cCc>cTc	p.P118L	C14orf21_uc001wom.1_5'Flank|DHRS1_uc001woj.2_5'Flank|DHRS1_uc001wok.3_5'Flank	NM_174913	NP_777573	Q86U38	CN021_HUMAN	Homo sapiens chromosome 14 open reading frame 21 (C14orf21), mRNA.	118							RNA binding			breast(3)|central_nervous_system(2)|large_intestine(3)|liver(1)|lung(3)|prostate(2)|skin(3)	17				GBM - Glioblastoma multiforme(265;0.0185)		GGATTCAGTCCCTTGAAACCG	0.522000														51			25		0	0	0.003954	0	0
XPNPEP1	7511	broad.mit.edu	37	10	111635351	111635351	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:111635351G>A	uc001kyp.2	-	14	1446	c.1326C>T	c.(1324-1326)gtC>gtT	p.V442V	XPNPEP1_uc009xxt.2_Intron|XPNPEP1_uc001kyq.2_Silent_p.V328V|XPNPEP1_uc010qrb.2_3'UTR|XPNPEP1_uc010qra.1_3'UTR	NM_020383	NP_065116	Q9NQW7	XPP1_HUMAN	Homo sapiens X-prolyl aminopeptidase (aminopeptidase P) 1, soluble (XPNPEP1), transcript variant 1, mRNA.	399					bradykinin catabolic process|proteolysis		manganese ion binding|metalloaminopeptidase activity|protein homodimerization activity			endometrium(2)|kidney(9)|large_intestine(4)|lung(9)|ovary(3)|pancreas(2)|skin(1)|urinary_tract(1)	31		Breast(234;0.174)		Epithelial(162;1.64e-05)|all cancers(201;0.000564)|BRCA - Breast invasive adenocarcinoma(275;0.0721)		TCGTCTCAGGGACTGGCCTAA	0.408000														20			11		0	0	0.001368	0	0
CCDC6	8030	broad.mit.edu	37	10	61574451	61574451	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:61574451A>T	uc001jks.4	-	3	877	c.645T>A	c.(643-645)aaT>aaA	p.N215K		NM_005436	NP_005427	Q16204	CCDC6_HUMAN	Homo sapiens coiled-coil domain containing 6 (CCDC6), mRNA.	215	5 X 29 AA tandem repeats.					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)		TCCAGAGGCGATTAACTAGTG	0.428000			T	RET	NSCLC									69			24		0	0	0.007291	0	0
OSGIN1	29948	broad.mit.edu	37	16	83994339	83994339	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:83994339C>T	uc002fha.3	+	4	619	c.619C>T	c.(619-621)Cgg>Tgg	p.R207W	OSGIN1_uc002fhb.3_Missense_Mutation_p.R124W|OSGIN1_uc002fhc.3_Missense_Mutation_p.R124W	NM_182981	NP_892026	Q9UJX0	OSGI1_HUMAN	Homo sapiens oxidative stress induced growth inhibitor 1 (OSGIN1), nuclear gene encoding mitochondrial protein, mRNA.	207					cell differentiation|multicellular organismal development|negative regulation of cell growth		growth factor activity			autonomic_ganglia(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	12						GGTTCTGGGCCGGAACCTCCC	0.657000														18			6		0	0	0.004482	0	0
ATE1	11101	broad.mit.edu	37	10	123600677	123600677	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:123600677G>A	uc001lfp.3	-	8	1159	c.1077C>T	c.(1075-1077)ctC>ctT	p.L359L	ATE1_uc001lfq.3_Silent_p.L359L|ATE1_uc010qtr.2_Silent_p.L244L|ATE1_uc010qts.2_Silent_p.L263L|ATE1_uc010qtt.2_Silent_p.L352L|ATE1_uc001lfr.3_Silent_p.L60L|ATE1_uc009xzu.3_Non-coding_Transcript	NM_007041	NP_008972	O95260	ATE1_HUMAN	Homo sapiens arginyltransferase 1 (ATE1), transcript variant 2, mRNA.	359					protein arginylation	cytoplasm|nucleus	acyltransferase activity|arginyltransferase activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		all_neural(114;0.061)|Lung NSC(174;0.095)|all_lung(145;0.124)|Breast(234;0.212)				CACAGTTTGGGAGGATGTCAA	0.473000														13			12		0	0	0.001368	0	0
RP1L1	94137	broad.mit.edu	37	8	10470221	10470221	+	Nonsense_Mutation	SNP	C	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:10470221C>A	uc003wtc.3	-	3	1616	c.1387G>T	c.(1387-1389)Gag>Tag	p.E463*		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA.	463					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)		TCCGAGCCCTCGGGGAGGCCG	0.716000														39			16		1.15919e-05	1.39589e-05	0.008871	1	0
NRXN2	9379	broad.mit.edu	37	11	64457898	64457898	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:64457898C>T	uc021qkw.1	-	4	1291	c.829G>A	c.(829-831)Gat>Aat	p.D277N	NRXN2_uc021qkx.1_Intron|NRXN2_uc001oas.3_Intron|NRXN2_uc001oaq.3_5'UTR	NM_015080	NP_055895	Q9P2S2	NRX2A_HUMAN	Homo sapiens neurexin 2 (NRXN2), transcript variant alpha-1, mRNA.	277					cell adhesion	integral to membrane	metal ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						TGGTGCACATCGCCGGCTCCT	0.632000														14			10		0	0	0.000978	0	0
AHNAK2	113146	broad.mit.edu	37	14	105411838	105411838	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:105411838G>A	uc010axc.1	-	6	10070	c.9950C>T	c.(9949-9951)tCg>tTg	p.S3317L	AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Missense_Mutation_p.S3217L	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	3317						nucleus		p.S3317L(1)		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)			CGCCCTGTACGACGGCATCTT	0.617000														72			125		0	0	0.003610	0	0
LOC100128164	100128164	broad.mit.edu	37	3	169664194	169664194	+	RNA	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:169664194C>T	uc011bpp.2	-	1		c.3609G>A								Homo sapiens four and a half LIM domains 1 pseudogene (LOC100128164), transcript variant 1, non-coding RNA.																		CCTTGTACTCCATTTTTGATC	0.507000														27			23		0	0	0.002780	0	0
TGS1	96764	broad.mit.edu	37	8	56723525	56723525	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:56723525C>T	uc003xsj.4	+	10	2616	c.2229C>T	c.(2227-2229)ttC>ttT	p.F743F	TGS1_uc010lyh.3_Intron	NM_024831	NP_079107	Q96RS0	TGS1_HUMAN	Homo sapiens trimethylguanosine synthase 1 (TGS1), mRNA.	743	Sufficient for catalytic activity.				RNA capping|cellular lipid metabolic process|ncRNA metabolic process|regulation of transcription, DNA-dependent|spliceosomal snRNP assembly|transcription, DNA-dependent	Cajal body|cytosol	RNA trimethylguanosine synthase activity			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		all_lung(136;0.119)|all_epithelial(80;0.125)|Lung NSC(129;0.147)	Epithelial(17;0.00027)|all cancers(17;0.00251)			AGATAGAGTTCATCTGTGGAG	0.448000														102			46		0	0	0.003610	0	0
EIF3B	8662	broad.mit.edu	37	7	2409303	2409304	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:2409303_2409304CC>TT	uc003slx.3	+	9	1683_1684	c.1600_1601CC>TT	c.(1600-1602)ccg>TTg	p.P534L	EIF3B_uc003sly.3_Missense_Mutation_p.P534L|EIF3B_uc003sma.3_Missense_Mutation_p.P262L	NM_003751	NP_003742	P55884	EIF3B_HUMAN	Homo sapiens eukaryotic translation initiation factor 3, subunit B (EIF3B), transcript variant 1, mRNA.	534					regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex	nucleotide binding|protein complex scaffold|translation initiation factor activity			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	24		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14)		AGATAGGACTCCGAAAGGCACC	0.485000														28			28		0	0	0.004672	0	0
EGR2	1959	broad.mit.edu	37	10	64573881	64573881	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:64573881G>A	uc010qio.2	-	2	576	c.556C>T	c.(556-558)Cct>Tct	p.P186S	EGR2_uc010qim.2_Missense_Mutation_p.P173S|EGR2_uc010qin.2_Missense_Mutation_p.P123S|EGR2_uc001jmi.3_Missense_Mutation_p.P173S|EGR2_uc009xph.3_Missense_Mutation_p.P173S	NM_001136179	NP_001129651	P11161	EGR2_HUMAN	Homo sapiens early growth response 2 (EGR2), transcript variant 4, mRNA.	173					fat cell differentiation|protein export from nucleus|transcription from RNA polymerase II promoter	cytoplasm|nucleus	RNA polymerase II activating transcription factor binding|chromatin binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	36	Prostate(12;0.0297)|all_hematologic(501;0.228)					CCAGAATAAGGAGGAGGAGGC	0.637000														53			29		0	0	0.005443	0	0
CLTC	1213	broad.mit.edu	37	17	57725728	57725728	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:57725728T>C	uc002ixr.1	+	3	1102	c.659T>C	c.(658-660)tTt>tCt	p.F220S	CLTC_uc002ixp.3_Missense_Mutation_p.F216S|CLTC_uc002ixq.1_Missense_Mutation_p.F216S	NM_004859	NP_004850	Q00610	CLH1_HUMAN	Homo sapiens clathrin, heavy chain (Hc) (CLTC), mRNA.	216	Globular terminal domain.				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle	protein binding|structural molecule activity		CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					TCAACGTTATTTTGTTTTGCA	0.393000			T	"""ALK, TFE3"""	"""ALCL, renal """									77			45		0	0	0.003610	0	0
NAA11	84779	broad.mit.edu	37	4	80246511	80246511	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:80246511G>A	uc003hlt.4	-	0	661	c.521C>T	c.(520-522)tCc>tTc	p.S174F	NAA11_uc021xpl.1_Missense_Mutation_p.S174F	NM_032693	NP_116082	Q9BSU3	NAA11_HUMAN	Homo sapiens N(alpha)-acetyltransferase 11, NatA catalytic subunit (NAA11), mRNA.	174						cytoplasm|nucleus	peptide alpha-N-acetyltransferase activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|skin(2)	23						GTTCTCCCTGGAGCCCAGGAC	0.547000														12			4		0	0	0.000248	0	0
FCHO2	115548	broad.mit.edu	37	5	72377793	72377793	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:72377793C>A	uc003kcl.3	+	22	2280	c.2164C>A	c.(2164-2166)Ctt>Att	p.L722I	FCHO2_uc011csl.2_Missense_Mutation_p.L689I|FCHO2_uc010izb.3_Missense_Mutation_p.L150I|FCHO2_uc011csn.2_Missense_Mutation_p.L150I	NM_138782	NP_620137	Q0JRZ9	FCHO2_HUMAN	Homo sapiens FCH domain only 2 (FCHO2), transcript variant 1, mRNA.	722										cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(1)	17		Lung NSC(167;0.0465)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;4.6e-53)		CATGCAGTCCCTTCCCCCTGC	0.418000														91			41		2.95478e-19	3.59516e-19	0.008740	1	0
CD84	8832	broad.mit.edu	37	1	160523163	160523163	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:160523163C>T	uc001fwh.4	-	3	844	c.765G>A	c.(763-765)agG>agA	p.R255R	CD84_uc001fwf.4_Intron|CD84_uc009wtn.3_Intron|CD84_uc001fwi.4_Intron|CD84_uc001fwg.4_Intron|CD84_uc001fwj.3_Silent_p.R255R	NM_001184879	NP_001171808	Q9UIB8	SLAF5_HUMAN	Homo sapiens CD84 molecule (CD84), transcript variant 1, mRNA.	255					blood coagulation|defense response|homophilic cell adhesion|leukocyte migration	integral to plasma membrane	receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(1)	24	all_cancers(52;3.62e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			CTGGGAAAATCCTACCTTGTC	0.458000														41			5		0	0	0.001168	0	0
PCDHB8	56128	broad.mit.edu	37	5	140559084	140559084	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:140559084C>T	uc011dai.2	+	0	1714	c.1469C>T	c.(1468-1470)tCg>tTg	p.S490L	PCDHB16_uc003liv.3_5'Flank	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	Homo sapiens protocadherin beta 8 (PCDHB8), mRNA.	490	Cadherin 5.				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)			GTCACCTACTCGCTGCTGCCG	0.657000														31			27		0	0	0.006320	0	0
GRIK2	2898	broad.mit.edu	37	6	102376335	102376335	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:102376335G>A	uc003pqp.4	+	12	2206	c.1913G>A	c.(1912-1914)gGc>gAc	p.G638D	GRIK2_uc010kcw.3_Missense_Mutation_p.G638D|GRIK2_uc003pqo.4_Missense_Mutation_p.G638D|GRIK2_uc021zdk.1_Intron|GRIK2_uc021zdl.1_Intron	NM_021956	NP_068775	Q13002	GRIK2_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 2 (GRIK2), transcript variant 1, mRNA.	638					glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	ATAGTGGGAGGCATTTGGTGG	0.453000														57			16		0	0	0.004990	0	0
OR4D11	219986	broad.mit.edu	37	11	59271645	59271645	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:59271645G>A	uc001noa.1	+	0	597	c.597G>A	c.(595-597)atG>atA	p.M199I		NM_001004706	NP_001004706	Q8NGI4	OR4DB_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 11 (OR4D11), mRNA.	199					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						AGTTCTTGATGATTTCCAACA	0.498000														95			45		0	0	0.003214	0	0
ZSCAN20	7579	broad.mit.edu	37	1	33960447	33960447	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:33960447C>T	uc001bxj.4	+	7	2670	c.2503C>T	c.(2503-2505)Cca>Tca	p.P835S	ZSCAN20_uc009vui.3_Missense_Mutation_p.P834S	NM_145238	NP_660281	P17040	ZSC20_HUMAN	Homo sapiens zinc finger and SCAN domain containing 20 (ZSCAN20), mRNA.	835					viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				TGCCCAAAGCCCATCTTTTAG	0.473000														130			38		0	0	0.006230	0	0
SYNRG	11276	broad.mit.edu	37	17	35930926	35930926	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:35930926G>A	uc002hoa.3	-	9	1240	c.1157C>T	c.(1156-1158)cCa>cTa	p.P386L	SYNRG_uc010wde.2_Missense_Mutation_p.P308L|SYNRG_uc010wdf.2_Missense_Mutation_p.P308L|SYNRG_uc002hoc.3_Missense_Mutation_p.P307L|SYNRG_uc002hoe.3_Missense_Mutation_p.P308L|SYNRG_uc002hod.3_Missense_Mutation_p.P308L|SYNRG_uc010wdg.2_Intron|SYNRG_uc002hob.3_Missense_Mutation_p.P386L|SYNRG_uc002hof.3_Missense_Mutation_p.P98L|SYNRG_uc010cvd.1_Missense_Mutation_p.P186L|SYNRG_uc002hog.1_Missense_Mutation_p.P520L	NM_007247	NP_009178	Q9UMZ2	SYNRG_HUMAN	Homo sapiens synergin, gamma (SYNRG), transcript variant 1, mRNA.	386	EH.				endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						ACTTAAAGTTGGAATAGGAGC	0.488000														63			50		0	0	0.003610	0	0
C9orf170	401535	broad.mit.edu	37	9	89763693	89763693	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:89763693C>T	uc004apa.1	+	0	135	c.48C>T	c.(46-48)ctC>ctT	p.L16L		NM_001001709	NP_001001709	A2RU37	CI170_HUMAN	Homo sapiens chromosome 9 open reading frame 170 (C9orf170), mRNA.	16										large_intestine(3)|lung(2)|prostate(1)	6						CCCTGCATCTCCTCCTGGGGG	0.726000														15			8		0	0	0.003080	0	0
SYCP2L	221711	broad.mit.edu	37	6	10894423	10894423	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:10894423G>A	uc003mzo.3	+	3	618	c.322G>A	c.(322-324)Gga>Aga	p.G108R	SYCP2L_uc011dim.1_Non-coding_Transcript	NM_001040274	NP_001035364	Q5T4T6	SYC2L_HUMAN	Homo sapiens synaptonemal complex protein 2-like (SYCP2L), mRNA.	108						nucleus				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)			AATTCGGCAGGGACTGATCCC	0.368000														79			16		0	0	0.008871	0	0
FAIM3	9214	broad.mit.edu	37	1	207078479	207078479	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:207078479G>A	uc001hey.3	-	7	1237	c.1058C>T	c.(1057-1059)cCc>cTc	p.P353L	FAIM3_uc010prz.2_Missense_Mutation_p.P241L|FAIM3_uc021pif.1_3'UTR|FAIM3_uc010psa.2_Missense_Mutation_p.P262L	NM_005449	NP_005440	O60667	FAIM3_HUMAN	Homo sapiens Fas apoptotic inhibitory molecule 3 (FAIM3), transcript variant 1, mRNA.	353					anti-apoptosis|cellular defense response	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(84;0.201)					ATGGAGCCAGGGAGATTCAGA	0.517000														29			17		0	0	0.006122	0	0
UPK3BL	100134938	broad.mit.edu	37	7	102213067	102213067	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:102213067C>T	uc003uzw.2	-	1	1	c.-181_splice	c.e1-1		POLR2J3_uc011kkw.1_Splice_Site	NM_001114403	NP_001107875	B0FP48	UPK3L_HUMAN	Homo sapiens uroplakin 3B-like (UPK3BL), mRNA.							integral to membrane				kidney(2)|stomach(1)	3						CGGGGCAAACCCGCGCAAGGA	0.657000														10			6		0	0	0.003080	0	0
GPR155	151556	broad.mit.edu	37	2	175301022	175301022	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:175301022C>T	uc002uit.3	-	16	2826	c.2435G>A	c.(2434-2436)gGg>gAg	p.G812E	GPR155_uc002uiu.3_Missense_Mutation_p.G812E|GPR155_uc002uiv.3_Missense_Mutation_p.G812E|GPR155_uc010fqs.3_Missense_Mutation_p.G784E	NM_001033045	NP_689742	Q7Z3F1	GP155_HUMAN	Homo sapiens G protein-coupled receptor 155 (GPR155), transcript variant 9, mRNA.	812	DEP.				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						GATGACTCCCCCTTGTACCAG	0.483000														89			35		0	0	0.005524	0	0
B3GAT1	27087	broad.mit.edu	37	11	134251915	134251915	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:134251915G>A	uc001qhq.3	-	5	1183	c.922C>T	c.(922-924)Ctg>Ttg	p.L308L	B3GAT1_uc001qhr.3_Silent_p.L308L|B3GAT1_uc010scv.1_Silent_p.L321L	NM_018644	NP_473366	Q9P2W7	B3GA1_HUMAN	Homo sapiens beta-1,3-glucuronyltransferase 1 (glucuronosyltransferase P) (B3GAT1), transcript variant 1, mRNA.	308					carbohydrate metabolic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(175;0.127)	all_cancers(12;1.39e-23)|all_epithelial(12;7.17e-17)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|Medulloblastoma(222;0.0125)|all_neural(223;0.0137)|Esophageal squamous(93;0.0559)		Epithelial(10;2.58e-11)|all cancers(11;5.75e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.000879)|Lung(977;0.0864)		TGCCACACCAGGATCTGTGTG	0.577000														37			17		0	0	0.001882	0	0
PIK3CG	5294	broad.mit.edu	37	7	106515219	106515219	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:106515219G>A	uc003vdv.4	+	4	2447	c.2362G>A	c.(2362-2364)Gat>Aat	p.D788N	PIK3CG_uc003vdu.3_Missense_Mutation_p.D788N|PIK3CG_uc003vdw.3_Missense_Mutation_p.D788N	NM_002649	NP_002640	P48736	PK3CG_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, gamma polypeptide (PIK3CG), mRNA.	788					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						AGTTCCATATGATCCTGGACT	0.433000														32			14		0	0	0.004007	0	0
KIF4B	285643	broad.mit.edu	37	5	154394581	154394581	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:154394581C>T	uc010jih.1	+	0	1322	c.1162C>T	c.(1162-1164)Ctg>Ttg	p.L388L		NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	Homo sapiens kinesin family member 4B (KIF4B), mRNA.	388					axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TCTACAATCCCTGATGGAGAA	0.463000														94			50		0	0	0.003610	0	0
FIBCD1	84929	broad.mit.edu	37	9	133799745	133799745	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:133799745C>T	uc004bzz.3	-	2	836	c.591G>A	c.(589-591)gtG>gtA	p.V197V	FIBCD1_uc011mcc.2_Silent_p.V197V	NM_032843	NP_116232	Q8N539	FBCD1_HUMAN	Homo sapiens fibrinogen C domain containing 1 (FIBCD1), transcript variant 1, mRNA.	197					signal transduction	extracellular space|integral to membrane	chitin binding|metal ion binding|receptor binding			kidney(1)|large_intestine(3)|lung(2)|prostate(5)|urinary_tract(1)	12	all_hematologic(7;0.0028)			OV - Ovarian serous cystadenocarcinoma(145;3.52e-05)|Epithelial(140;0.00019)		TGACGGAGTTCACCAGGTGAG	0.701000														20			12		0	0	0.001368	0	0
ATP13A5	344905	broad.mit.edu	37	3	193071934	193071934	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:193071934C>T	uc011bsq.2	-	5	588	c.588G>A	c.(586-588)tgG>tgA	p.W196*		NM_198505	NP_940907	Q4VNC0	AT135_HUMAN	Homo sapiens ATPase type 13A5 (ATP13A5), mRNA.	196					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		CAAGCAGCTTCCATATGGGTT	0.373000														54			24		0	0	0.007291	0	0
LOC647264	0	broad.mit.edu	37	13	64321127	64321127	+	RNA	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr13:64321127G>A	uc010thk.1	+	0		c.168G>A								Homo sapiens hypothetical LOC647264, mRNA (cDNA clone MGC:189721 IMAGE:9057045), complete cds.																		tgtggctatggaactggctac	0.567000														6			6		0	0	0.001168	0	0
KLF12	11278	broad.mit.edu	37	13	74420039	74420039	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr13:74420039C>T	uc001vjf.3	-	3	817	c.595G>A	c.(595-597)Gct>Act	p.A199T	KLF12_uc010aeq.3_Missense_Mutation_p.A199T|KLF12_uc001vjg.3_Missense_Mutation_p.A199T	NM_007249	NP_009180	Q9Y4X4	KLF12_HUMAN	Homo sapiens Kruppel-like factor 12 (KLF12), mRNA.	199					negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	16		Prostate(6;0.00217)|Breast(118;0.0838)		GBM - Glioblastoma multiforme(99;0.00677)		GACCTTACAGCTGTGTAGACA	0.493000														49			14		0	0	0.004007	0	0
LILRB1	10859	broad.mit.edu	37	19	55143575	55143575	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:55143575C>T	uc002qgj.3	+	5	888	c.548C>T	c.(547-549)tCc>tTc	p.S183F	LILRB1_uc010erp.1_Intron|LILRB1_uc002qgl.3_Missense_Mutation_p.S183F|LILRB1_uc002qgk.3_Missense_Mutation_p.S183F|LILRB1_uc002qgm.3_Missense_Mutation_p.S183F|LILRB1_uc010erq.3_Missense_Mutation_p.S183F|LILRB1_uc010err.3_Non-coding_Transcript	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.	183	Ig-like C2-type 2.				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity	p.F182F(1)		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)		GCCATCTTCTCCGTGGGCCCC	0.577000										HNSCC(37;0.09)				77			26		0	0	0.005443	0	0
ENTHD1	150350	broad.mit.edu	37	22	40139745	40139745	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr22:40139745G>A	uc003ayg.3	-	6	2014	c.1763C>T	c.(1762-1764)tCa>tTa	p.S588L		NM_152512	NP_689725	Q8IYW4	ENTD1_HUMAN	Homo sapiens ENTH domain containing 1 (ENTHD1), mRNA.	588										breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3)	32	Melanoma(58;0.0749)					GCTTATTTGTGAACTATTCAG	0.413000														61			29		0	0	0.006320	0	0
TLR4	7099	broad.mit.edu	37	9	120475362	120475362	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:120475362C>A	uc004bjz.3	+	2	1247	c.956C>A	c.(955-957)aCt>aAt	p.T319N	TLR4_uc004bkb.3_Missense_Mutation_p.T119N|TLR4_uc004bka.3_Missense_Mutation_p.T279N	NM_138554	NP_612564	O00206	TLR4_HUMAN	Homo sapiens toll-like receptor 4 (TLR4), transcript variant 1, mRNA.	319					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						GTGAGTGTGACTATTGAAAGG	0.318000														49			37		1.42033e-22	1.72944e-22	0.004289	1	0
RYR1	6261	broad.mit.edu	37	19	38984995	38984995	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:38984995C>T	uc002oit.3	+	38	6408	c.6278C>T	c.(6277-6279)tCc>tTc	p.S2093F	RYR1_uc002oiu.3_Missense_Mutation_p.S2093F|RYR1_uc002oiv.1_5'Flank	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	2093	6 X approximate repeats.				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)	TTCCCAGGGTCCCTGCAGGAG	0.647000														39			12		0	0	0.004007	0	0
MSL3P1	151507	broad.mit.edu	37	2	234775127	234775127	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:234775127G>A	uc010znf.2	-	1	953	c.715C>T	c.(715-717)Cct>Tct	p.P239S						Homo sapiens male-specific lethal 3 homolog (Drosophila) pseudogene 1 (MSL3P1), non-coding RNA.																		TCCTGGCTAGGAGTCAGAGTA	0.512000														39			22		0	0	0.003954	0	0
LILRB3	11025	broad.mit.edu	37	19	54724529	54724529	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:54724529T>A	uc010erh.1	-	5	1251	c.1127A>T	c.(1126-1128)aAg>aTg	p.K376M	LILRB3_uc002qee.1_Missense_Mutation_p.K376M|LILRB3_uc002qef.1_Missense_Mutation_p.K376M|LILRB3_uc002qer.1_Non-coding_Transcript|LILRB3_uc002qes.1_Missense_Mutation_p.K376M|LILRB3_uc002qeh.1_Missense_Mutation_p.K376M|LILRB3_uc002qeg.1_Non-coding_Transcript|LILRB3_uc002qei.1_Missense_Mutation_p.K376M|LILRB3_uc002qek.1_Intron|LILRB3_uc002qej.1_Non-coding_Transcript|LILRB3_uc002qel.1_Intron|LILRB3_uc002qem.1_Intron|LILRB3_uc002qen.1_Intron|LILRB3_uc002qeo.1_Missense_Mutation_p.K376M|LILRB3_uc002qep.1_Missense_Mutation_p.K376M|LILRB3_uc002qeq.1_Missense_Mutation_p.K376M|LILRB3_uc010yep.1_Intron|LILRB3_uc010yeq.1_Intron	NM_006864	NP_006855	O75022	LIRB3_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3 (LILRB3), transcript variant 2, mRNA.	376	Ig-like C2-type 4.				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)		AGCCTGGTACTTATGAGCTCC	0.567000														28			8		0	0	0.004990	0	0
PDE6C	5146	broad.mit.edu	37	10	95405749	95405749	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:95405749C>T	uc001kiu.4	+	14	2018	c.1880C>T	c.(1879-1881)tCt>tTt	p.S627F		NM_006204	NP_006195	P51160	PDE6C_HUMAN	Homo sapiens phosphodiesterase 6C, cGMP-specific, cone, alpha prime (PDE6C), mRNA.	627					visual perception	plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.123)				CTTCATGGTTCTTCTATTTTG	0.408000														43			25		0	0	0.002445	0	0
ACE	1636	broad.mit.edu	37	17	61568382	61568382	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:61568382G>A	uc002jau.2	+	17	2743	c.2709G>A	c.(2707-2709)tcG>tcA	p.S903S	ACE_uc010wpj.2_Silent_p.S329S|ACE_uc010ddv.2_Silent_p.S130S|ACE_uc002jav.2_Silent_p.S329S|ACE_uc002jaw.2_Non-coding_Transcript|ACE_uc010wpk.2_Silent_p.S149S	NM_000789	NP_000780	P12821	ACE_HUMAN	Homo sapiens angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 (ACE), transcript variant 1, mRNA.	903	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)	CAGCCCCCTCGATGGACACCA	0.642000														46			20		0	0	0.003954	0	0
RNF157	114804	broad.mit.edu	37	17	74154583	74154583	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:74154583C>T	uc002jqz.3	-	13	1374	c.1305_splice	c.e13-1	p.K435_splice	RNF157_uc002jra.3_Splice_Site_p.K435_splice	NM_052916	NP_443148	Q96PX1	RN157_HUMAN	Homo sapiens ring finger protein 157 (RNF157), mRNA.	435	Ser-rich.						zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	25			LUSC - Lung squamous cell carcinoma(166;0.187)			GGAAGTGGATCTGTAGGAGTC	0.478000														45			25		0	0	0.003330	0	0
CPNE3	8895	broad.mit.edu	37	8	87570629	87570629	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:87570629G>A	uc003ydv.2	+	16	1767	c.1605G>A	c.(1603-1605)caG>caA	p.Q535Q	CPNE3_uc003ydw.1_Silent_p.Q251Q	NM_003909	NP_003900	O75131	CPNE3_HUMAN	Homo sapiens copine III (CPNE3), mRNA.	535					lipid metabolic process|vesicle-mediated transport	cytosol	calcium-dependent phospholipid binding|protein serine/threonine kinase activity|transporter activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	23						CGAAACAACAGAAGCAGTGAC	0.473000														52			20		0	0	0.003330	0	0
ANK3	288	broad.mit.edu	37	10	61844448	61844448	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:61844448C>T	uc001jky.3	-	31	4324	c.3986G>A	c.(3985-3987)cGa>cAa	p.R1329Q	ANK3_uc001jkw.3_Missense_Mutation_p.R463Q|ANK3_uc009xpa.3_Missense_Mutation_p.R463Q|ANK3_uc001jkx.3_Missense_Mutation_p.R507Q|ANK3_uc010qih.2_Missense_Mutation_p.R1330Q|ANK3_uc001jkz.4_Missense_Mutation_p.R1323Q|ANK3_uc001jla.1_Missense_Mutation_p.R395Q|ANK3_uc001jlb.1_Missense_Mutation_p.R847Q|ANK3_uc001jkv.3_5'Flank	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	1329					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	p.R1329*(1)		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						GCAGAAACATCGCAAGGAAGA	0.398000														96			36		0	0	0.005524	0	0
COL19A1	1310	broad.mit.edu	37	6	70890386	70890386	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:70890386C>T	uc003pfc.1	+	43	2863	c.2746C>T	c.(2746-2748)Cct>Tct	p.P916S		NM_001858	NP_001849	Q14993	COJA1_HUMAN	Homo sapiens collagen, type XIX, alpha 1 (COL19A1), mRNA.	916	Triple-helical region 5 (COL5).				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging	p.F915F(1)		breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						TATAGGTTTCCCTGGACCAGA	0.408000														43			5		0	0	0.001168	0	0
SLC6A5	9152	broad.mit.edu	37	11	20648366	20648366	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:20648366G>A	uc001mqd.3	+	7	1646	c.1373G>A	c.(1372-1374)tGg>tAg	p.W458*	SLC6A5_uc009yic.3_Nonsense_Mutation_p.W223*	NM_004211	NP_004202	Q9Y345	SC6A5_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, glycine), member 5 (SLC6A5), mRNA.	458					synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	ACACCCAAGTGGGAGAAACTC	0.562000														48			21		0	0	0.005443	0	0
ANPEP	290	broad.mit.edu	37	15	90348431	90348431	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:90348431G>A	uc002bop.4	-	3	1067	c.775C>T	c.(775-777)Cca>Tca	p.P259S		NM_001150	NP_001141	P15144	AMPN_HUMAN	Homo sapiens alanyl (membrane) aminopeptidase (ANPEP), mRNA.	259	Metalloprotease.				angiogenesis|cell differentiation|interspecies interaction between organisms	ER-Golgi intermediate compartment|cytosol|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)	GGGTCTTCTGGAAGTGGGGTG	0.612000														88			13		0	0	0.002450	0	0
PITPNM2	57605	broad.mit.edu	37	12	123497270	123497270	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:123497270G>A	uc001uej.1	-	3	504	c.305C>T	c.(304-306)cCt>cTt	p.P102L	PITPNM2_uc001uek.1_Missense_Mutation_p.P102L|PITPNM2_uc009zxu.1_Missense_Mutation_p.P102L|MIR4304_uc021rfr.1_5'Flank	NM_020845	NP_065896	Q9BZ72	PITM2_HUMAN	Homo sapiens phosphatidylinositol transfer protein, membrane-associated 2 (PITPNM2), mRNA.	102					metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		CTCCACGAAAGGACAGGTGAA	0.517000														99			51		0	0	0.003610	0	0
CABS1	85438	broad.mit.edu	37	4	71200984	71200984	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:71200984A>T	uc003hff.3	+	0	314	c.228A>T	c.(226-228)aaA>aaT	p.K76N	CABS1_uc021xoz.1_Missense_Mutation_p.K76N	NM_033122	NP_149113	Q96KC9	CABS1_HUMAN	Homo sapiens calcium-binding protein, spermatid-specific 1 (CABS1), mRNA.	76			K -> Q (in dbSNP:rs3796706).			flagellum	calcium ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(4)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						AAAAACTCAAATCAGAAGATG	0.378000														50			31		0	0	0.008361	0	0
MAMDC4	158056	broad.mit.edu	37	9	139751484	139751484	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:139751484C>T	uc004cjs.3	+	15	2013	c.1963C>T	c.(1963-1965)Ccc>Tcc	p.P655S	MAMDC4_uc011mej.2_5'UTR	NM_206920	NP_996803	Q6UXC1	AEGP_HUMAN	Homo sapiens MAM domain containing 4 (MAMDC4), mRNA.	734	MAM 4.				protein transport	integral to membrane				breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	19	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		CCTCCATGGGCCCCAGATTGG	0.667000														27			8		0	0	0.003080	0	0
DNAH5	1767	broad.mit.edu	37	5	13901467	13901467	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:13901467G>A	uc003jfd.2	-	13	1988	c.1946C>T	c.(1945-1947)gCt>gTt	p.A649V		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	649	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)					GCTTAGCACAGCTGGGTGCTG	0.557000									Kartagener syndrome					29			8		0	0	0.004482	0	0
POTEH	23784	broad.mit.edu	37	22	16287502	16287502	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr22:16287502C>T	uc010gqp.2	-	0	436	c.384G>A	c.(382-384)atG>atA	p.M128I	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.	128										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						TGAGTGTCTTCATAGCAGAGT	0.617000														100			32		0	0	0.002522	0	0
SMC1A	8243	broad.mit.edu	37	X	53440018	53440018	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chrX:53440018T>G	uc004dsg.3	-	4	755	c.686A>C	c.(685-687)tAc>tCc	p.Y229S	SMC1A_uc011moe.2_Missense_Mutation_p.Y207S|SMC1A_uc011mof.2_Intron	NM_006306	NP_006297	Q14683	SMC1A_HUMAN	Homo sapiens structural maintenance of chromosomes 1A (SMC1A), mRNA.	229					DNA repair|cell cycle checkpoint|cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic sister chromatid cohesion|mitotic spindle organization|negative regulation of DNA endoreduplication|nuclear mRNA splicing, via spliceosome|response to radiation|signal transduction in response to DNA damage	cohesin core heterodimer|condensed chromosome kinetochore|condensed nuclear chromosome|cytoplasm|meiotic cohesin complex|nucleoplasm	ATP binding|chromatin binding|microtubule motor activity|protein heterodimerization activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						TTCATTATGGTAAAGCTTAAA	0.507000														10			11		0	0	0.008291	0	0
FSIP2	401024	broad.mit.edu	37	2	186670004	186670004	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:186670004A>G	uc002upl.3	+	16	16238	c.16238A>G	c.(16237-16239)aAg>aGg	p.K5413R	FSIP2_uc002upm.3_Intron	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						AGGGAATTTAAGAAAAGTGAT	0.294000														100			26		0	0	0.003330	0	0
PTPRN2	5799	broad.mit.edu	37	7	157926392	157926392	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:157926392C>T	uc003wno.3	-	8	1654	c.1533G>A	c.(1531-1533)cgG>cgA	p.R511R	PTPRN2_uc003wnp.3_Silent_p.R494R|PTPRN2_uc003wnq.3_Silent_p.R511R|PTPRN2_uc003wnr.3_Silent_p.R473R|PTPRN2_uc011kwa.2_Silent_p.R534R	NM_002847	NP_002838	Q92932	PTPR2_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, N polypeptide 2 (PTPRN2), transcript variant 1, mRNA.	511						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.A510A(1)		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)		CGATGTAGCCCCGCGCCTCTT	0.662000														42			12		0	0	0.002450	0	0
KLRK1	22914	broad.mit.edu	37	12	10541474	10541474	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:10541474C>T	uc009zhj.3	-	2	113	c.-64_splice	c.e2-1		AK096314_uc001qya.1_Intron|KLRK1_uc001qyb.3_Splice_Site|KLRK1_uc001qyc.3_Splice_Site|KLRK1_uc009zhk.3_Splice_Site|KLRK1_uc001qyd.3_Splice_Site	NM_007360	NP_001186734	P26718	NKG2D_HUMAN	Homo sapiens killer cell lectin-like receptor subfamily K, member 1 (KLRK1), mRNA.						T cell costimulation|natural killer cell activation	integral to plasma membrane	sugar binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|skin(1)	9						ACAAAGGATTCCTGAATAAAA	0.393000														12			5		0	0	0.000602	0	0
DNAH17	8632	broad.mit.edu	37	17	76503643	76503643	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:76503643C>T	uc010dhp.2	-	27	4606	c.4481G>A	c.(4480-4482)cGa>cAa	p.R1494Q		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)			GCTCCAGGTTCGCTGGACCTC	0.592000														21			6		0	0	0.001168	0	0
TIE1	7075	broad.mit.edu	37	1	43786957	43786957	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:43786957T>G	uc001ciu.3	+	19	3302	c.3125T>G	c.(3124-3126)cTt>cGt	p.L1042R	TIE1_uc010oke.2_Missense_Mutation_p.L997R|TIE1_uc009vwq.3_Missense_Mutation_p.L998R|TIE1_uc010okg.2_Missense_Mutation_p.L687R|TIE1_uc021omo.1_Non-coding_Transcript	NM_005424	NP_005415	P35590	TIE1_HUMAN	Homo sapiens tyrosine kinase with immunoglobulin-like and EGF-like domains 1 (TIE1), transcript variant 1, mRNA.	1042	Protein kinase.				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	p.V1041V(1)|p.V1041F(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TTTGGAGTCCTTCTTTGGGAG	0.552000														75			33		0	0	0.007835	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110487439	110487439	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:110487439T>A	uc003yne.3	+	50	8802	c.8698T>A	c.(8698-8700)Ttt>Att	p.F2900I		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	2900					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TAACTGGTATTTTAAAGGTGT	0.328000										HNSCC(38;0.096)				44			23		0	0	0.002299	0	0
ANK3	288	broad.mit.edu	37	10	61946567	61946567	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:61946567C>T	uc001jky.3	-	16	2329	c.1991G>A	c.(1990-1992)gGa>gAa	p.G664E	ANK3_uc010qih.2_Missense_Mutation_p.G647E|ANK3_uc001jkz.4_Missense_Mutation_p.G658E|ANK3_uc001jlb.1_Missense_Mutation_p.G193E|ANK3_uc001jlc.1_Missense_Mutation_p.G325E	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	664					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						GGAAGCAATTCCTTGCCGGGT	0.527000														42			16		0	0	0.007413	0	0
BFSP2	8419	broad.mit.edu	37	3	133191377	133191377	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:133191377C>T	uc003epn.1	+	5	1350	c.1212C>T	c.(1210-1212)tcC>tcT	p.S404S		NM_003571	NP_003562	Q13515	BFSP2_HUMAN	Homo sapiens beaded filament structural protein 2, phakinin (BFSP2), mRNA.	404	Tail.				response to stimulus|visual perception	cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|urinary_tract(1)	13						ACGTGGCGTCCTACCACGCCC	0.577000														23			10		0	0	0.000978	0	0
FAM5B	57795	broad.mit.edu	37	1	177199095	177199095	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:177199095C>T	uc001glf.3	+	1	395	c.83C>T	c.(82-84)cCt>cTt	p.P28L		NM_021165	NP_066988	Q9C0B6	FAM5B_HUMAN	Homo sapiens family with sequence similarity 5, member B (FAM5B), mRNA.	28						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						CTGGGCCTGCCTGGCTGGGTG	0.677000														19			7		0	0	0.003080	0	0
KRT15	3866	broad.mit.edu	37	17	39672365	39672365	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:39672365G>A	uc002hwy.3	-	3	1082	c.891C>T	c.(889-891)ttC>ttT	p.F297F	KRT15_uc002hwz.3_Silent_p.F199F|KRT15_uc002hxa.3_Silent_p.F132F|KRT15_uc002hxb.1_Silent_p.F132F	NM_002275	NP_002266	P19012	K1C15_HUMAN	Homo sapiens keratin 15 (KRT15), mRNA.	297	Coil 2.|Rod.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		Breast(137;0.000286)				CCTTGCTGAAGAACCAGGCCT	0.637000														57			34		0	0	0.003755	0	0
PCDH15	65217	broad.mit.edu	37	10	55582235	55582235	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:55582235G>A	uc010qhy.1	-	34	5667	c.5272C>T	c.(5272-5274)Cct>Tct	p.P1758S	PCDH15_uc010qhq.2_Intron|PCDH15_uc010qhr.2_Intron|PCDH15_uc021pqv.1_Intron|PCDH15_uc021pqw.1_Intron|PCDH15_uc010qht.2_Intron|PCDH15_uc021pqx.1_Intron|PCDH15_uc001jjv.1_Intron|PCDH15_uc021pqy.1_Missense_Mutation_p.P1753S|PCDH15_uc021pqz.1_Missense_Mutation_p.P1728S|PCDH15_uc010qhv.1_Missense_Mutation_p.P1748S|PCDH15_uc010qhw.1_Missense_Mutation_p.P1711S|PCDH15_uc010qhx.1_Missense_Mutation_p.P1682S|PCDH15_uc010qhz.1_Missense_Mutation_p.P1753S|PCDH15_uc010qia.1_Missense_Mutation_p.P1731S|PCDH15_uc001jju.1_Missense_Mutation_p.P1751S|PCDH15_uc010qib.1_Missense_Mutation_p.P1728S	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA.	1751					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			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)				gaaataggaggaggaggggga	0.468000										HNSCC(58;0.16)				9			3		0	0	0.000248	0	0
MYB	4602	broad.mit.edu	37	6	135518139	135518139	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:135518139T>G	uc003qfh.3	+	9	1443	c.1244T>G	c.(1243-1245)tTt>tGt	p.F415C	MYB_uc003qfp.3_Non-coding_Transcript|MYB_uc003qfn.3_Intron|MYB_uc003qfk.3_Intron|MYB_uc003qfc.3_Intron|MYB_uc003qfr.3_Intron|MYB_uc003qft.3_Intron|MYB_uc003qfs.3_Intron|MYB_uc003qfw.3_Intron|MYB_uc010kgi.3_Intron|MYB_uc003qfq.3_Missense_Mutation_p.F412C|MYB_uc010kgj.3_Intron|MYB_uc003qfo.3_Intron|MYB_uc003qfu.3_Intron|MYB_uc003qfy.3_Non-coding_Transcript|MYB_uc003qfl.3_Intron|MYB_uc003qfv.3_Intron|MYB_uc003qfz.3_Non-coding_Transcript|MYB_uc003qfx.3_Intron|MYB_uc003qga.3_Intron|MYB_uc003qgb.3_Intron|MYB_uc010kgk.3_Intron|MYB_uc003qfd.3_Intron|MYB_uc003qfi.3_Missense_Mutation_p.F399C|MYB_uc003qfe.3_Intron|MYB_uc003qfg.3_Intron|MYB_uc003qff.3_Intron|MYB_uc003qfj.3_Intron|MYB_uc003qfm.3_Non-coding_Transcript|MYB_uc003qgc.3_Intron|MYB_uc003qfb.1_Intron|MYB_uc003qge.1_Non-coding_Transcript	NM_001130173	NP_001123645	P10242	MYB_HUMAN	Homo sapiens v-myb myeloblastosis viral oncogene homolog (avian) (MYB), transcript variant 1, mRNA.	405	Negative regulatory domain (By similarity).				blood coagulation|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of T-helper cell differentiation|positive regulation of histone H3-K4 methylation|positive regulation of histone H3-K9 methylation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear matrix	DNA binding|protein binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	all_epithelial(2;0.109)|Breast(56;0.158)|Colorectal(23;0.221)	Lung NSC(302;3.08e-05)|Ovarian(999;0.208)		OV - Ovarian serous cystadenocarcinoma(155;0.0079)|GBM - Glioblastoma multiforme(68;0.0117)		TTTGAATTCTTTGAAGAAGCA	0.453000			T	NFIB	adenoid cystic carcinoma									93			22		0	0	0.002299	0	0
DCTN1	1639	broad.mit.edu	37	2	74593972	74593973	+	Nonsense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:74593972_74593973GG>AA	uc002skx.3	-	20	2721_2722	c.2403_2404CC>TT	c.(2401-2406)atccga>atTTga	p.R802*	DCTN1_uc002skt.2_5'Flank|DCTN1_uc002skv.3_Nonsense_Mutation_p.R668*|DCTN1_uc002sku.3_Nonsense_Mutation_p.R668*|DCTN1_uc002skw.2_Nonsense_Mutation_p.R795*|DCTN1_uc010ffd.3_Nonsense_Mutation_p.R782*|DCTN1_uc002sky.3_Nonsense_Mutation_p.R765*	NM_004082	NP_004073	Q14203	DCTN1_HUMAN	Homo sapiens dynactin 1 (DCTN1), transcript variant 1, mRNA.	802					G2/M transition of mitotic cell cycle|cell death|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding	p.R802Q(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						ATTCGCCTTCGGATCTTCTTGC	0.550000														47			15		0	0	0.004672	0	0
PAPPA	5069	broad.mit.edu	37	9	118974017	118974017	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:118974017G>A	uc004bjn.3	+	3	2105	c.1724G>A	c.(1723-1725)cGa>cAa	p.R575Q	PAPPA_uc011lxp.1_Intron|PAPPA_uc011lxq.2_Intron	NM_002581	NP_002572	Q13219	PAPP1_HUMAN	Homo sapiens pregnancy-associated plasma protein A, pappalysin 1 (PAPPA), mRNA.	575	Metalloprotease.				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						CACGTCTTCCGAGGCATCTCA	0.547000														37			28		0	0	0.006320	0	0
DNAH5	1767	broad.mit.edu	37	5	13841134	13841134	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:13841134G>A	uc003jfd.2	-	33	5632	c.5590C>T	c.(5590-5592)Ctg>Ttg	p.L1864L		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	1864	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)					AGTAGCTCCAGGAAAGCCTGA	0.403000									Kartagener syndrome					49			27		0	0	0.005443	0	0
MYOT	9499	broad.mit.edu	37	5	137217693	137217693	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:137217693G>A	uc011cye.2	+	5	732	c.715G>A	c.(715-717)Gat>Aat	p.D239N	MYOT_uc003lbv.3_Missense_Mutation_p.D239N|MYOT_uc011cyg.2_Missense_Mutation_p.D55N|MYOT_uc011cyh.2_Missense_Mutation_p.D124N	NM_001135940	NP_001129412	Q9UBF9	MYOTI_HUMAN	Homo sapiens myotilin (MYOT), transcript variant 2, mRNA.	239	Necessary for interaction with ACTA1.|Necessary for interaction with FLNC.				muscle contraction	actin cytoskeleton|sarcolemma|sarcomere	actin binding|structural constituent of muscle			cervix(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			AGATGTGAATGATCAGGATGC	0.368000														39			18		0	0	0.008871	0	0
KIAA0494	9813	broad.mit.edu	37	1	47183625	47183625	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:47183625G>A	uc001cqk.4	-	0	1112	c.135C>T	c.(133-135)tcC>tcT	p.S45S	KIAA0494_uc010omh.1_Silent_p.S45S	NM_014774	NP_055589	O75071	K0494_HUMAN	Homo sapiens KIAA0494 (KIAA0494), mRNA.	45							calcium ion binding			endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	7	Acute lymphoblastic leukemia(166;0.155)					CTTCCTCTTCGGAGCTGGACT	0.557000														30			15		0	0	0.003163	0	0
TMEM199	147007	broad.mit.edu	37	17	26686008	26686008	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:26686008C>T	uc010wah.1	+	1	288	c.281C>T	c.(280-282)cCa>cTa	p.P94L	POLDIP2_uc002haz.3_5'Flank|POLDIP2_uc010wag.2_5'Flank|TMEM199_uc002hba.3_Missense_Mutation_p.P94L|MIR4723_uc021ttq.1_5'Flank	NM_152464	NP_689677	Q8N511	TM199_HUMAN	Homo sapiens transmembrane protein 199 (TMEM199), mRNA.	94						integral to membrane				endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	6	all_lung(13;0.000354)|Lung NSC(42;0.00115)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		GTGAAGCCTCCACGGGTATGT	0.398000														31			18		0	0	0.007413	0	0
ZNF629	23361	broad.mit.edu	37	16	30795488	30795488	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:30795488T>G	uc002dzs.1	-	2	369	c.161A>C	c.(160-162)gAa>gCa	p.E54A		NM_001080417	NP_001073886	Q9UEG4	ZN629_HUMAN	Homo sapiens zinc finger protein 629 (ZNF629), mRNA.	54					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1)	22			Colorectal(24;0.198)			GTCCTTGGATTCTGGACTCTG	0.572000														14			7		0	0	0.001984	0	0
IL1A	3552	broad.mit.edu	37	2	113535625	113535625	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:113535625C>T	uc002tig.3	-	5	1514	c.554G>A	c.(553-555)aGa>aAa	p.R185K		NM_000575	NP_000566	P01583	IL1A_HUMAN	Homo sapiens interleukin 1, alpha (IL1A), mRNA.	185					anti-apoptosis|apoptosis|cell proliferation|cellular response to heat|cytokine-mediated signaling pathway|fever generation|immune response|negative regulation of cell proliferation|positive regulation of angiogenesis|positive regulation of cell division|positive regulation of cytokine secretion|positive regulation of interleukin-2 biosynthetic process|positive regulation of mitosis|positive regulation vascular endothelial growth factor production|response to copper ion	cytosol|extracellular space	copper ion binding|cytokine activity|interleukin-1 receptor binding			breast(2)|large_intestine(1)|lung(9)	12						TTTTGAGATTCTTAGAATCAC	0.373000														50			18		0	0	0.007413	0	0
CMTM5	116173	broad.mit.edu	37	14	23848025	23848025	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:23848025G>A	uc010akm.3	+	2	871	c.427G>A	c.(427-429)Ggc>Agc	p.G143S	CMTM5_uc010akn.3_Intron|CMTM5_uc001wju.3_Intron|CMTM5_uc010ako.3_Intron|CMTM5_uc001wjs.3_Intron|CMTM5_uc001wjt.3_Intron	NM_138460	NP_612469	Q96DZ9	CKLF5_HUMAN	Homo sapiens CKLF-like MARVEL transmembrane domain containing 5 (CMTM5), transcript variant 1, mRNA.	143	MARVEL.				chemotaxis	extracellular space|integral to membrane	cytokine activity			endometrium(1)|large_intestine(1)|lung(4)|prostate(1)|stomach(1)	8	all_cancers(95;2e-05)			GBM - Glioblastoma multiforme(265;0.0064)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0382)		CCCAGCGCCTGGCTTCTGGTC	0.617000														17			8		0	0	0.006214	0	0
COIL	8161	broad.mit.edu	37	17	55027768	55027768	+	Silent	SNP	A	G	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:55027768A>G	uc002iuu.3	-	1	866	c.835T>C	c.(835-837)Tta>Cta	p.L279L		NM_004645	NP_004636	P38432	COIL_HUMAN	Homo sapiens coilin (COIL), mRNA.	279						Cajal body|nucleolus	protein C-terminus binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	15	Breast(9;6.15e-08)					TCCTTTGATAACTCAGTTGGT	0.448000														57			33		0	0	0.003755	0	0
GABRR2	2570	broad.mit.edu	37	6	89967665	89967665	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:89967665G>A	uc003pnb.2	-	8	1205	c.1197C>T	c.(1195-1197)acC>acT	p.T399T	GABRR2_uc011dzx.1_Silent_p.T275T	NM_002043	NP_002034	P28476	GBRR2_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) receptor, rho 2 (GABRR2), mRNA.	399					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(10)|prostate(2)|urinary_tract(1)	21		all_cancers(76;1.67e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.77e-07)|all_epithelial(107;2.51e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0158)		CCAGCATCATGGTTTTTGAAT	0.512000														26			10		0	0	0.001368	0	0
ARHGAP5	394	broad.mit.edu	37	14	32561408	32561408	+	Silent	SNP	T	C	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:32561408T>C	uc001wrl.3	+	1	1772	c.1533T>C	c.(1531-1533)agT>agC	p.S511S	ARHGAP5_uc001wrm.3_Silent_p.S511S|ARHGAP5_uc001wrn.3_Silent_p.S511S|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.	511	FF 4.				Rho protein signal transduction|cell adhesion	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding			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)		CAACACCTAGTTCAGATAAAA	0.338000														35			15		0	0	0.002450	0	0
GABRB3	2562	broad.mit.edu	37	15	26866567	26866567	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:26866567G>A	uc001zbb.3	-	4	626	c.523C>T	c.(523-525)Ccc>Tcc	p.P175S	GABRB3_uc021sgg.1_Missense_Mutation_p.P48S|GABRB3_uc021sgh.1_Missense_Mutation_p.P34S|GABRB3_uc001zaz.3_Missense_Mutation_p.P119S|GABRB3_uc001zba.3_Missense_Mutation_p.P119S|GABRB3_uc001zbc.3_Non-coding_Transcript	NM_001191320	NP_001178249	P28472	GBRB3_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 3 (GABRB3), transcript variant 3, mRNA.	119					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	TATGTGTCGGGCACCCATAGC	0.458000														61			15		0	0	0.003163	0	0
ACTB	60	broad.mit.edu	37	7	5569212	5569212	+	Missense_Mutation	SNP	G	A	A	rs11546929		TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:5569212G>A	uc003sot.4	-	1	161	c.77C>T	c.(76-78)gCc>gTc	p.A26V	ACTB_uc003sor.4_5'UTR|ACTB_uc003soq.4_5'UTR|ACTB_uc011jwi.1_5'Flank	NM_001101	NP_001092	P60709	ACTB_HUMAN	Homo sapiens actin, beta (ACTB), mRNA.	26					'de novo' posttranslational protein folding|adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	MLL5-L complex|NuA4 histone acetyltransferase complex|cytoskeleton|cytosol|ribonucleoprotein complex	ATP binding|kinesin binding|nitric-oxide synthase binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2)	8		Ovarian(82;0.0606)		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)		GGCCCGGGGGGCATCGTCGCC	0.721000														20			13		0	0	0.001855	0	0
ABCB5	340273	broad.mit.edu	37	7	20793112	20793112	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:20793112G>A	uc010kuh.3	+	26	3796	c.3559G>A	c.(3559-3561)Gat>Aat	p.D1187N	ABCB5_uc003suw.4_Missense_Mutation_p.D742N	NM_001163941	NP_848654	Q2M3G0	ABCB5_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 5 (ABCB5), transcript variant 1, mRNA.	742					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						TTCAGCCCTCGATAATGACAG	0.393000														73			18		0	0	0.001882	0	0
DSG2	1829	broad.mit.edu	37	18	29099784	29099784	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr18:29099784G>A	uc002kwu.4	+	2	288	c.100G>A	c.(100-102)Gaa>Aaa	p.E34K		NM_001943	NP_001934	Q14126	DSG2_HUMAN	Homo sapiens desmoglein 2 (DSG2), mRNA.	34					cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			CACAAGAAATGAAAATAAGCT	0.398000														40			30		0	0	0.007291	0	0
DNAH2	146754	broad.mit.edu	37	17	7689558	7689558	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:7689558C>T	uc002giu.1	+	38	6260	c.6246C>T	c.(6244-6246)atC>atT	p.I2082I		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	2082	AAA 2 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CCACCATGATCGTGGGCTGCA	0.572000														31			12		0	0	0.004656	0	0
PEG3	5178	broad.mit.edu	37	19	57325417	57325417	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:57325417C>T	uc002qnu.2	-	6	4744	c.4393G>A	c.(4393-4395)Gct>Act	p.A1465T	PEG3_uc010ygr.1_Intron|PEG3_uc010ygq.1_Intron|PEG3_uc002qnr.2_Intron|PEG3_uc010etp.2_Intron|PEG3_uc010ygs.1_Intron|PEG3_uc002qnq.2_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.A1436T|PEG3_uc002qnv.2_Missense_Mutation_p.A1465T|PEG3_uc002qnw.2_Missense_Mutation_p.A1341T|PEG3_uc002qnx.2_Missense_Mutation_p.A1339T|PEG3_uc010etr.2_Missense_Mutation_p.A1465T	NM_001146186	NP_001139657	Q9GZU2	PEG3_HUMAN	Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA.	1465	Glu-rich.				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)		GGCTCTTCAGCTCTTTCTTCT	0.542000														77			26		0	0	0.007291	0	0
TMPO	7112	broad.mit.edu	37	12	98927237	98927237	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:98927237C>T	uc001tfh.2	+	3	1497	c.1202C>T	c.(1201-1203)cCc>cTc	p.P401L	TMPO_uc001tfi.2_Intron|TMPO_uc001tfl.3_Intron|TMPO_uc001tfj.3_Intron|TMPO_uc001tfk.3_Intron	NM_003276	NP_003267	P42167	LAP2B_HUMAN	Homo sapiens thymopoietin (TMPO), transcript variant 1, mRNA.	310	Nucleoplasmic (Potential).					integral to membrane|nuclear inner membrane	DNA binding|lamin binding			breast(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						AACTCTATGCCCCCACTGGAT	0.448000														47			21		0	0	0.002299	0	0
RPTN	126638	broad.mit.edu	37	1	152128862	152128862	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:152128862G>A	uc001ezs.1	-	2	778	c.713C>T	c.(712-714)tCt>tTt	p.S238F		NM_001122965	NP_001116437	Q6XPR3	RPTN_HUMAN	Homo sapiens repetin (RPTN), mRNA.	238	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						ACCATAATGAGAATCCTGAAT	0.403000														114			71		0	0	0.003610	0	0
PANX3	116337	broad.mit.edu	37	11	124489711	124489711	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:124489711G>A	uc001qah.3	+	3	1059	c.1059G>A	c.(1057-1059)aaG>aaA	p.K353K		NM_052959	NP_443191	Q96QZ0	PANX3_HUMAN	Homo sapiens pannexin 3 (PANX3), mRNA.	353					protein hexamerization	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|urinary_tract(1)	26	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0219)		GTGTGTTGAAGGATACAACCA	0.438000														76			35		0	0	0.004289	0	0
EHD4	30844	broad.mit.edu	37	15	42245963	42245963	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:42245963G>A	uc001zot.3	-	2	476	c.413_splice	c.e2+1	p.R138_splice	EHD4_uc001zou.2_Splice_Site_p.R138_splice	NM_139265	NP_644670	Q9H223	EHD4_HUMAN	Homo sapiens EH-domain containing 4 (EHD4), mRNA.	138					endocytic recycling|protein homooligomerization	early endosome membrane|endoplasmic reticulum|nucleus|recycling endosome membrane	ATP binding|GTP binding|GTPase activity|calcium ion binding|nucleic acid binding|protein binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(7)|ovary(2)|stomach(1)|urinary_tract(1)	20		all_cancers(109;2.54e-12)|all_epithelial(112;6.59e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		OV - Ovarian serous cystadenocarcinoma(18;1.6e-19)|GBM - Glioblastoma multiforme(94;3.77e-06)|COAD - Colon adenocarcinoma(120;0.0474)|Colorectal(105;0.0538)		GGTCCTTACCGATTCAGGAAA	0.458000														63			30		0	0	0.003271	0	0
MRPS18A	55168	broad.mit.edu	37	6	43643091	43643091	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:43643091G>A	uc003owa.2	-	3	549	c.516C>T	c.(514-516)ttC>ttT	p.F172F	MRPS18A_uc003ovy.2_Intron|MRPS18A_uc003ovz.2_Intron	NM_018135	NP_060605	Q9NVS2	RT18A_HUMAN	Homo sapiens mitochondrial ribosomal protein S18A (MRPS18A), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	0					translation	mitochondrial small ribosomal subunit	structural constituent of ribosome			kidney(3)|large_intestine(1)	4	all_cancers(18;6.56e-06)|Lung NSC(15;0.00161)|all_lung(25;0.004)		all cancers(41;0.000479)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0102)|OV - Ovarian serous cystadenocarcinoma(102;0.137)			AAGGGAGCGGGAAGGTTGGCA	0.562000														8			4		0	0	0.000248	0	0
PRKDC	5591	broad.mit.edu	37	8	48749903	48749903	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:48749903G>A	uc003xqi.3	-	57	7685	c.7628C>T	c.(7627-7629)tCc>tTc	p.S2543F	PRKDC_uc003xqj.3_Missense_Mutation_p.S2543F	NM_006904	NP_008835	P78527	PRKDC_HUMAN	Homo sapiens protein kinase, DNA-activated, catalytic polypeptide (PRKDC), transcript variant 1, mRNA.	2544	KIP-binding.				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.L2542V(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)				AGAATATAAGGAATTTAGTGC	0.373000								Non-homologous end-joining						34			6		0	0	0.001168	0	0
NLRP8	126205	broad.mit.edu	37	19	56467089	56467089	+	Missense_Mutation	SNP	G	A	A	rs149835864		TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:56467089G>A	uc002qmh.3	+	2	1736	c.1665G>A	c.(1663-1665)atG>atA	p.M555I	NLRP8_uc010etg.3_Missense_Mutation_p.M555I	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	Homo sapiens NLR family, pyrin domain containing 8 (NLRP8), mRNA.	555						cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		TCTCTCACATGGGACTTTTCT	0.468000														33			19		0	0	0.006122	0	0
CSMD1	64478	broad.mit.edu	37	8	2807756	2807756	+	Silent	SNP	A	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:2807756A>T	uc022aqr.1	-	66	10701	c.10311T>A	c.(10309-10311)ggT>ggA	p.G3437G	CSMD1_uc011kwj.2_Silent_p.G2752G|CSMD1_uc010lrg.3_Silent_p.G1329G	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	3438						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)		TACTTACATAACCATCTAGTC	0.443000														72			29		0	0	0.008361	0	0
ZNF768	79724	broad.mit.edu	37	16	30536501	30536501	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:30536501G>A	uc002dyk.4	-	1	1136	c.960C>T	c.(958-960)ccC>ccT	p.P320P	ZNF768_uc010vex.2_Silent_p.P289P|ZNF768_uc010vew.2_Silent_p.P289P	NM_024671	NP_078947	Q9H5H4	ZN768_HUMAN	Homo sapiens zinc finger protein 768 (ZNF768), mRNA.	320					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						TGCCGCAACGGGGACATTTGT	0.602000														16			6		0	0	0.001168	0	0
IGLON5	402665	broad.mit.edu	37	19	51828705	51828705	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:51828705G>A	uc002pwc.2	+	3	497	c.497G>A	c.(496-498)tGg>tAg	p.W166*		NM_001101372	NP_001094842	A6NGN9	IGLO5_HUMAN	Homo sapiens IgLON family member 5 (IGLON5), mRNA.	166	Ig-like C2-type 2.					extracellular region				large_intestine(5)|lung(6)|prostate(1)	12						ACGGTCACCTGGAGACAGCTC	0.637000														14			4		0	0	0.000248	0	0
FAAH2	158584	broad.mit.edu	37	X	57458368	57458368	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chrX:57458368A>C	uc004dvc.3	+	7	1163	c.1014A>C	c.(1012-1014)gaA>gaC	p.E338D		NM_174912	NP_777572	Q6GMR7	FAAH2_HUMAN	Homo sapiens fatty acid amide hydrolase 2 (FAAH2), mRNA.	338						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						TTCACCTTGAAACTATTCTAG	0.383000										HNSCC(52;0.14)				14			17		0	0	0.004007	0	0
ALPK2	115701	broad.mit.edu	37	18	56274662	56274662	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr18:56274662T>C	uc002lhj.4	-	2	333	c.119A>G	c.(118-120)aAg>aGg	p.K40R		NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN	Homo sapiens alpha-kinase 2 (ALPK2), mRNA.	40	Ig-like 1.						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						TACCTCTGGCTTGGGCTGACC	0.348000														41			23		0	0	0.003330	0	0
SAG	6295	broad.mit.edu	37	2	234217864	234217864	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:234217864C>T	uc002vuh.2	+	1	417	c.29C>T	c.(28-30)tCc>tTc	p.S10F	SAG_uc002vug.2_Intron|SAG_uc010zmq.1_5'UTR	NM_000541	NP_000532	P10523	ARRS_HUMAN	Homo sapiens S-antigen; retina and pineal gland (arrestin) (SAG), mRNA.	10					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)		ACCAGCAAGTCCGAACCGAAC	0.463000														23			5		0	0	0.001168	0	0
DENND1A	57706	broad.mit.edu	37	9	126439053	126439053	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:126439053G>A	uc011lzm.1	-	3	436	c.222C>T	c.(220-222)ttC>ttT	p.F74F	DENND1A_uc004bny.1_Intron|DENND1A_uc004bnz.1_Silent_p.F106F|DENND1A_uc004boa.1_Silent_p.F106F|DENND1A_uc004bob.1_Silent_p.F76F|DENND1A_uc004boc.3_Silent_p.F74F	NM_020946	NP_065997	Q8TEH3	DEN1A_HUMAN	Homo sapiens DENN/MADD domain containing 1A (DENND1A), transcript variant 1, mRNA.	106	UDENN.					cell junction|clathrin coated vesicle membrane|presynaptic membrane	guanyl-nucleotide exchange factor activity	p.V74M(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						AAAATACCTCGAACCAGGGGA	0.333000														42			24		0	0	0.002096	0	0
OR10G2	26534	broad.mit.edu	37	14	22102951	22102951	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:22102951G>A	uc010tmc.2	-	0	48	c.48C>T	c.(46-48)ttC>ttT	p.F16F		NM_001005466	NP_001005466	Q8NGC3	O10G2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 2 (OR10G2), mRNA.	16					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)		CCAGAAGAATGAAATCTGTCA	0.458000														86			36		0	0	0.002222	0	0
KCNA10	3744	broad.mit.edu	37	1	111060265	111060265	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:111060265A>C	uc001dzt.1	-	0	1533	c.1145T>G	c.(1144-1146)cTc>cGc	p.L382R		NM_005549	NP_005540	Q16322	KCA10_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 10 (KCNA10), mRNA.	382						voltage-gated potassium channel complex	intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)		TCCAATGAAGAGAAAGAAGAT	0.542000														29			20		0	0	0.007413	0	0
BAGE	574	broad.mit.edu	37	21	11021110	11021110	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr21:11021110C>T	uc002yiu.1	-	8	1687	c.1487_splice	c.e8+1		TPTE_uc002yis.1_Splice_Site|BAGE_uc002yit.1_Splice_Site	NM_182484	NP_872290	Q13072	BAGE1_HUMAN	Homo sapiens B melanoma antigen family, member 5 (BAGE5), mRNA.							extracellular region								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)		AAGTTCAAACCTGATTCAAAG	0.358000														106			8		0	0	0.004482	0	0
GPR179	440435	broad.mit.edu	37	17	36485943	36485943	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:36485943C>T	uc002hpz.3	-	10	3530	c.3509G>A	c.(3508-3510)cGg>cAg	p.R1170Q		NM_001004334	NP_001004334	Q6PRD1	GP179_HUMAN	Homo sapiens G protein-coupled receptor 179 (GPR179), mRNA.	1170						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.R1170L(2)		breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				GCTGCCCTCCCGTTGACAGAC	0.577000														82			55		0	0	0.003610	0	0
OR2W1	26692	broad.mit.edu	37	6	29012589	29012589	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:29012589G>A	uc003nlw.2	-	0	364	c.364C>T	c.(364-366)Cgt>Tgt	p.R122C	LOC100129636_uc021ytq.1_Intron	NM_030903	NP_112165	Q9Y3N9	OR2W1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily W, member 1 (OR2W1), mRNA.	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R122G(2)|p.R122S(2)		endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|skin(1)	23						GCTGTAAAACGATCATAGGAC	0.398000														24			8		0	0	0.003080	0	0
LRP4	4038	broad.mit.edu	37	11	46890564	46890564	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:46890564G>A	uc001ndn.4	-	31	5055	c.4812C>T	c.(4810-4812)atC>atT	p.I1604I	LOC100507401_uc001ndl.3_Intron	NM_002334	NP_002325	O75096	LRP4_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 4 (LRP4), mRNA.	1604					Wnt receptor signaling pathway|endocytosis|negative regulation of canonical Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		GGGAAACCACGATGATATCCA	0.547000														78			25		0	0	0.007291	0	0
STAT3	6774	broad.mit.edu	37	17	40475291	40475291	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:40475291G>A	uc002hzl.1	-	18	1975	c.1735C>T	c.(1735-1737)Ctt>Ttt	p.L579F	STAT3_uc002hzk.1_Missense_Mutation_p.L579F|STAT3_uc002hzm.1_Missense_Mutation_p.L579F|STAT3_uc010wgh.1_Missense_Mutation_p.L481F|STAT3_uc002hzn.1_Missense_Mutation_p.L579F	NM_139276	NP_644805	P40763	STAT3_HUMAN	Homo sapiens signal transducer and activator of transcription 3 (acute-phase response factor) (STAT3), transcript variant 1, mRNA.	579					JAK-STAT cascade involved in growth hormone signaling pathway|cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis	cytosol|nucleus|plasma membrane	calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)		BRCA - Breast invasive adenocarcinoma(366;0.139)		TCGTTCCAAAGGGCCAGGATG	0.507000									Hyperimmunoglobulin E Recurrent Infection Syndrome		OREG0024421	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		52			44		0	0	0.003610	0	0
XIRP2	129446	broad.mit.edu	37	2	168104177	168104177	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:168104177A>T	uc002udx.3	+	8	6364	c.6275A>T	c.(6274-6276)aAt>aTt	p.N2092I	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.N1917I|XIRP2_uc010fpq.3_Missense_Mutation_p.N1870I|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	1917					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						GTTAAGAATAATCTAACAACT	0.403000														21			12		0	0	0.000978	0	0
abParts	0	broad.mit.edu	37	14	106452778	106452778	+	RNA	SNP	T	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:106452778T>A	uc021ser.1	-	2607		c.45182A>T								Parts of antibodies, mostly variable regions.																		CCCTGAAACTTCTGTGCATAG	0.562000														50			86		0	0	0.003610	0	0
ABCC1	4363	broad.mit.edu	37	16	16230362	16230362	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:16230362C>T	uc010bvi.3	+	28	4328	c.4153C>T	c.(4153-4155)Cga>Tga	p.R1385*	ABCC1_uc010bvj.3_Nonsense_Mutation_p.R1326*|ABCC1_uc010bvk.3_Nonsense_Mutation_p.R1329*|ABCC1_uc010bvl.3_Nonsense_Mutation_p.R1385*|ABCC1_uc010bvm.3_Nonsense_Mutation_p.R1270*|ABCC1_uc002del.4_Nonsense_Mutation_p.R1279*	NM_004996	NP_004987	P33527	MRP1_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 1 (ABCC1), transcript variant 1, mRNA.	1385	ABC transporter 2.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	GGGTTCCCTCCGAATGAACCT	0.552000														24			9		0	0	0.001368	0	0
PPFIA1	8500	broad.mit.edu	37	11	70208469	70208469	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:70208469C>T	uc001opo.3	+	20	2955	c.2740C>T	c.(2740-2742)Ctg>Ttg	p.L914L	PPFIA1_uc001opn.2_Silent_p.L914L|PPFIA1_uc001opp.3_Non-coding_Transcript|PPFIA1_uc001opr.3_Silent_p.L22L	NM_003626	NP_003617	Q13136	LIPA1_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1 (PPFIA1), transcript variant 2, mRNA.	914	SAM 1.				cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity			breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			CATGTCGGCCCTGTCCGACAC	0.617000														36			21		0	0	0.001523	0	0
CEL	1056	broad.mit.edu	37	9	135946607	135946607	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:135946607C>T	uc010naa.1	+	10	1743	c.1727C>T	c.(1726-1728)cCc>cTc	p.P576L		NM_001807	NP_001798	P19835	CEL_HUMAN	Homo sapiens carboxyl ester lipase (bile salt-stimulated lipase) (CEL), mRNA.	573	17 X 11 AA tandem repeats, glycodomain, O-linked (mucin type).				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)		CCCGTGCCCCCCACGGGTGAC	0.771000														59			17		0	0	0.007413	0	0
LRRC4B	94030	broad.mit.edu	37	19	51022661	51022661	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:51022661C>T	uc002pss.3	-	2	446	c.309G>A	c.(307-309)acG>acA	p.T103T		NM_001080457	NP_001073926	Q9NT99	LRC4B_HUMAN	Homo sapiens leucine rich repeat containing 4B (LRRC4B), mRNA.	103						cell junction|integral to membrane|presynaptic membrane				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		TGAACGTGTCCGTCCGGATCA	0.652000														6			4		0	0	0.000248	0	0
DUOX1	53905	broad.mit.edu	37	15	45426452	45426452	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:45426452G>A	uc001zus.1	+	4	598	c.252G>A	c.(250-252)agG>agA	p.R84R	DUOX1_uc001zut.1_Silent_p.R84R|DUOX1_uc010bee.1_5'UTR	NM_017434	NP_787954	Q9NRD9	DUOX1_HUMAN	Homo sapiens dual oxidase 1 (DUOX1), transcript variant 1, mRNA.	84	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)		CCATCTCAAGGGGCCCTGCAG	0.627000														23			4		0	0	0.000248	0	0
MAGEA10	4109	broad.mit.edu	37	X	151303507	151303507	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chrX:151303507G>A	uc022cgz.1	-	0	586	c.586C>T	c.(586-588)Ccc>Tcc	p.P196S	MAGEA5_uc022cgy.1_Intron|MAGEA10_uc004ffk.3_Missense_Mutation_p.P196S|MAGEA10_uc004ffm.2_Missense_Mutation_p.P196S|MAGEA10_uc004ffl.3_Missense_Mutation_p.P196S	NM_021048	NP_066386	P43363	MAGAA_HUMAN	Homo sapiens melanoma antigen family A, 10 (MAGEA10), transcript variant 2, mRNA.	196	MAGE.									endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					TGGCCAGTGGGATCCACTTCC	0.493000														18			20		0	0	0.002299	0	0
A2ML1	144568	broad.mit.edu	37	12	8995898	8995898	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:8995898G>A	uc001quz.4	+	11	1515	c.1417G>A	c.(1417-1419)Gat>Aat	p.D473N	A2ML1_uc001qva.1_Missense_Mutation_p.D53N|A2ML1_uc010sgm.2_5'Flank	NM_144670	NP_653271	B3KVV6	B3KVV6_HUMAN	Homo sapiens alpha-2-macroglobulin-like 1 (A2ML1), mRNA.	317						extracellular space	endopeptidase inhibitor activity			NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						AGTGCTGGTGGATTATTACAT	0.582000														45			14		0	0	0.003163	0	0
PAPPA	5069	broad.mit.edu	37	9	119065205	119065205	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:119065205C>T	uc004bjn.3	+	9	3504	c.3123C>T	c.(3121-3123)atC>atT	p.I1041I	PAPPA_uc011lxp.1_Silent_p.I736I|PAPPA_uc011lxq.2_Silent_p.I416I	NM_002581	NP_002572	Q13219	PAPP1_HUMAN	Homo sapiens pregnancy-associated plasma protein A, pappalysin 1 (PAPPA), mRNA.	1041					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						GCTGGGTCATCATCGGACAGC	0.532000														33			17		0	0	0.008871	0	0
XRCC1	7515	broad.mit.edu	37	19	44058893	44058894	+	Missense_Mutation	DNP	GG	AA	AA	rs144559135		TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:44058893_44058894GG>AA	uc002owt.2	-	3	438_439	c.318_319CC>TT	c.(316-321)aaccgc>aaTTgc	p.R107C	XRCC1_uc010xwp.1_Missense_Mutation_p.R76C	NM_006297	NP_006288	P18887	XRCC1_HUMAN	Homo sapiens X-ray repair complementing defective repair in Chinese hamster cells 1 (XRCC1), mRNA.	107			R -> H (in dbSNP:rs2228487).		base-excision repair|single strand break repair	nucleoplasm	damaged DNA binding|protein binding	p.R107H(1)		breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Prostate(69;0.0153)				ATGCGAACGCGGTTGGGGTTTG	0.604000								Other BER factors						85			36		0	0	0.004672	0	0
ARHGEF18	23370	broad.mit.edu	37	19	7535057	7535057	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:7535057C>T	uc002mgi.3	+	18	3648	c.3395C>T	c.(3394-3396)tCc>tTc	p.S1132F	ARHGEF18_uc010xjm.1_Missense_Mutation_p.S974F|ARHGEF18_uc002mgh.3_Missense_Mutation_p.S974F|ARHGEF18_uc002mgj.1_Missense_Mutation_p.S769F|ARHGEF18_uc021unt.1_5'Flank	NM_001130955	NP_056133	Q6ZSZ5	ARHGI_HUMAN	Homo sapiens Rho/Rac guanine nucleotide exchange factor (GEF) 18 (ARHGEF18), transcript variant 2, mRNA.	1132	Pro-rich.				actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|regulation of cell shape|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	23		Renal(5;0.0902)				GACAGCCCCTCCGAGGGCTTC	0.726000														51			19		0	0	0.001882	0	0
BRCA2	675	broad.mit.edu	37	13	32893344	32893344	+	Silent	SNP	A	G	G	rs28897700		TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr13:32893344A>G	uc001uub.1	+	2	425	c.198A>G	c.(196-198)caA>caG	p.Q66Q	BRCA2_uc001uua.1_5'UTR	NM_000059	NP_000050	P51587	BRCA2_HUMAN	Homo sapiens breast cancer 2, early onset (BRCA2), mRNA.	66					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|gamma-tubulin binding|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		AAACTCCACAAAGGAAACCAT	0.373000			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)				81			18		0	0	0.008871	0	0
TRIOBP	11078	broad.mit.edu	37	22	38120219	38120219	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr22:38120219C>T	uc003atr.3	+	6	1927	c.1656C>T	c.(1654-1656)tcC>tcT	p.S552S	TRIOBP_uc003atu.3_Silent_p.S380S|TRIOBP_uc003atq.1_Silent_p.S552S|TRIOBP_uc003ats.1_Silent_p.S380S	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN	Homo sapiens TRIO and F-actin binding protein (TRIOBP), transcript variant 6, mRNA.	552					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	GTP-Rho binding|actin binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					CCACAACATCCTGTGCCCAGC	0.592000														107			10		0	0	0.006214	0	0
C8orf34	116328	broad.mit.edu	37	8	69699744	69699744	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:69699744G>A	uc010lyz.3	+	11	1813	c.1522G>A	c.(1522-1524)Gaa>Aaa	p.E508K	C8orf34_uc003xyb.3_Missense_Mutation_p.E397K	NM_052958	NP_443190	Q49A92	CH034_HUMAN	Homo sapiens chromosome 8 open reading frame 34 (C8orf34), transcript variant 1, mRNA.	422					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)			CACAGAAAGTGAAGGAGTGGA	0.353000														17			6		0	0	0.004482	0	0
NLGN4Y	22829	broad.mit.edu	37	Y	16734175	16734175	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chrY:16734175G>A	uc011nas.1	+	1	355	c.176G>A	c.(175-177)aGa>aAa	p.R59K	NLGN4Y_uc004fte.2_Intron|NLGN4Y_uc004ftg.2_Missense_Mutation_p.R59K|NLGN4Y_uc004ftf.2_5'UTR|NLGN4Y_uc004fth.2_Missense_Mutation_p.R59K|NLGN4Y_uc004fti.4_Missense_Mutation_p.R59K	NM_001206850	NP_001193779	Q8NFZ3	NLGNY_HUMAN	Homo sapiens neuroligin 4, Y-linked (NLGN4Y), transcript variant 3, mRNA.	59					brainstem development|cell adhesion|cerebellum development|male courtship behavior|positive regulation of organ growth|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|integral to plasma membrane|synapse	neurexin binding|receptor activity			large_intestine(3)|lung(7)|prostate(2)|skin(2)	14						CAGGGCCTAAGAACACCATTA	0.502000														17			5		0	0	0.001168	0	0
CDS1	1040	broad.mit.edu	37	4	85564200	85564200	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:85564200C>T	uc011ccv.2	+	10	1554	c.1056C>T	c.(1054-1056)ttC>ttT	p.F352F	CDS1_uc010ike.1_Intron	NM_001263	NP_001254	Q92903	CDS1_HUMAN	Homo sapiens CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 1 (CDS1), mRNA.	352					signal transduction|visual perception	endoplasmic reticulum membrane|integral to membrane	diacylglycerol cholinephosphotransferase activity|phosphatidate cytidylyltransferase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|ovary(1)	20		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.00101)		TGTACCCTTTCCAGATCCACA	0.428000														152			29		0	0	0.008361	0	0
ZNF503	84858	broad.mit.edu	37	10	77158601	77158601	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:77158601G>A	uc001jxg.3	-	1	2183	c.1847C>T	c.(1846-1848)cCc>cTc	p.P616L	ZNF503-AS2_uc010qlf.2_5'Flank	NM_032772	NP_116161	Q96F45	ZN503_HUMAN	Homo sapiens zinc finger protein 503 (ZNF503), mRNA.	616					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			lung(4)|ovary(1)|skin(1)	6	all_cancers(46;0.105)|all_epithelial(25;0.00449)|Prostate(51;0.0112)|Ovarian(15;0.088)					CACCGGCACGGGGGCGCCAGG	0.726000														7			4		0	0	0.000602	0	0
NBEAL2	23218	broad.mit.edu	37	3	47042835	47042835	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:47042835C>T	uc003cqp.3	+	28	4730	c.4551C>T	c.(4549-4551)gcC>gcT	p.A1517A	NBEAL2_uc010hjm.2_Silent_p.A894A|NBEAL2_uc010hjn.2_5'Flank	NM_015175	NP_055990	Q6ZNJ1	NBEL2_HUMAN	Homo sapiens neurobeachin-like 2 (NBEAL2), mRNA.	1517							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)		GGGTCCTGGCCAGCCTCACCC	0.617000														33			14		0	0	0.006122	0	0
SERPING1	710	broad.mit.edu	37	11	57381837	57381837	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:57381837G>A	uc001nkp.1	+	7	1477	c.1286G>A	c.(1285-1287)gGg>gAg	p.G429E	SERPING1_uc010rju.1_Missense_Mutation_p.G377E|SERPING1_uc010rjv.1_Missense_Mutation_p.G434E|SERPING1_uc001nkr.1_Missense_Mutation_p.G429E|SERPING1_uc001nks.1_Missense_Mutation_p.G120E	NM_000062	NP_001027466	P05155	IC1_HUMAN	Homo sapiens serpin peptidase inhibitor, clade G (C1 inhibitor), member 1 (SERPING1), transcript variant 1, mRNA.	429			G -> R (in HAE; type 2).		blood circulation|blood coagulation, intrinsic pathway|complement activation, classical pathway|innate immune response|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation	extracellular space|platelet alpha granule lumen	protein binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(1)	27						AACCTGTGTGGGCTGACAGAG	0.527000														66			39		0	0	0.008740	0	0
TTN	7273	broad.mit.edu	37	2	179478823	179478823	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:179478823C>T	uc021vsy.1	-	210	41822	c.41597G>A	c.(41596-41598)gGt>gAt	p.G13866D	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002ump.2_Non-coding_Transcript|TTN_uc021vsz.1_Missense_Mutation_p.G7561D|TTN_uc021vta.1_Missense_Mutation_p.G7494D|TTN_uc021vtb.1_Missense_Mutation_p.G7369D	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	14793							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)			AACTGGTTCACCAACACCATA	0.393000														31			15		0	0	0.004990	0	0
MAP4K5	11183	broad.mit.edu	37	14	50901138	50901138	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:50901138G>C	uc001wya.3	-	26	2458	c.2138C>G	c.(2137-2139)tCt>tGt	p.S713C	MAP4K5_uc001wyb.3_Missense_Mutation_p.S713C	NM_006575	NP_006566	Q9Y4K4	M4K5_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase kinase 5 (MAP4K5), transcript variant 1, mRNA.	713	CNH.				activation of JUN kinase activity	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	all_epithelial(31;0.000415)|Breast(41;0.0102)					AAACCATGAAGATGCAGAGTT	0.348000														18			8		0	0	0.004482	0	0
RAC1	5879	broad.mit.edu	37	7	6426892	6426892	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:6426892C>T	uc003spx.3	+	1	326	c.85C>T	c.(85-87)Cct>Tct	p.P29S	RAC1_uc003spw.3_Missense_Mutation_p.P29S|RAC1_uc021zzg.1_5'UTR	NM_006908	NP_008839	P63000	RAC1_HUMAN	Homo sapiens ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1) (RAC1), transcript variant Rac1, mRNA.	29					T cell costimulation|actin filament polymerization|apoptosis|axon guidance|cell motility|cell-matrix adhesion|induction of apoptosis by extracellular signals|inflammatory response|lamellipodium assembly|localization within membrane|negative regulation of interleukin-23 production|negative regulation of receptor-mediated endocytosis|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of Rho protein signal transduction|positive regulation of lamellipodium assembly|regulation of cell migration|regulation of defense response to virus by virus|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|ruffle organization|small GTPase mediated signal transduction|viral reproduction	cytosol|melanosome|plasma membrane	GTP binding|GTP-dependent protein binding|GTPase activity|thioesterase binding	p.P29S(2)		cervix(1)|endometrium(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	8		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.104)	Pravastatin(DB00175)|Simvastatin(DB00641)	CAATGCATTTCCTGGAGAATA	0.353000														73			67		0	0	0.003610	0	0
HOXC5	3222	broad.mit.edu	37	12	54427174	54427174	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:54427174G>A	uc001sew.3	+	0	343	c.268G>A	c.(268-270)Gaa>Aaa	p.E90K	HOXC5_uc001set.3_Intron|HOXC4_uc001seu.3_Intron|MIR615_uc021qyl.1_5'Flank	NM_018953	NP_061826	Q00444	HXC5_HUMAN	Homo sapiens homeobox C5 (HOXC5), transcript variant 1, mRNA.	90					regulation of transcription from RNA polymerase II promoter	cell junction|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(2)|urinary_tract(1)	12						GGGCAGAGACGAAGCGGCTCC	0.701000														12			11		0	0	0.008291	0	0
ERC2	26059	broad.mit.edu	37	3	56468947	56468947	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:56468947C>T	uc021wzo.1	-	0	229	c.89G>A	c.(88-90)cGa>cAa	p.R30Q	ERC2_uc003dhr.1_Missense_Mutation_p.R30Q	NM_015576	NP_056391	O15083	ERC2_HUMAN	Homo sapiens ELKS/RAB6-interacting/CAST family member 2 (ERC2), mRNA.	30						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		ACTTGTTCTTCGGTGGCCCAA	0.493000														32			24		0	0	0.003330	0	0
UGT3A1	133688	broad.mit.edu	37	5	35965644	35965644	+	Silent	SNP	G	A	A	rs150885334		TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:35965644G>A	uc003jjv.2	-	3	880	c.687C>T	c.(685-687)ttC>ttT	p.F229F	UGT3A1_uc003jjw.2_Non-coding_Transcript|UGT3A1_uc011coq.2_Silent_p.F229F|UGT3A1_uc011cor.2_Silent_p.F195F|UGT3A1_uc003jjy.2_Silent_p.F175F	NM_152404	NP_689617	Q6NUS8	UD3A1_HUMAN	Homo sapiens UDP glycosyltransferase 3 family, polypeptide A1 (UGT3A1), transcript variant 1, mRNA.	229						integral to membrane	glucuronosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AGCCTTCTGGGAAATGCTCCT	0.458000														43			25		0	0	0.003954	0	0
LAMC3	10319	broad.mit.edu	37	9	133911687	133911688	+	Missense_Mutation	DNP	GG	AA	AA	rs45444592		TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:133911687_133911688GG>AA	uc004caa.1	+	3	1042_1043	c.944_945GG>AA	c.(943-945)cgg>cAA	p.R315Q		NM_006059	NP_006050	Q9Y6N6	LAMC3_HUMAN	Homo sapiens laminin, gamma 3 (LAMC3), mRNA.	315	Laminin EGF-like 1.				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)		CCGTGGGCCCGGGGCACCGCCG	0.688000														26			9		0	0	0.004672	0	0
MAGEC1	9947	broad.mit.edu	37	X	140995068	140995068	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chrX:140995068G>A	uc004fbt.3	+	3	2202	c.1878G>A	c.(1876-1878)caG>caA	p.Q626Q	MAGEC1_uc010nsl.2_Intron|MAGEC1_uc022cfi.1_Silent_p.Q285Q	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	626							protein binding	p.L625F(1)		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)					CTTCTCTCCAGAGCCCTGTGA	0.567000										HNSCC(15;0.026)				42			69		0	0	0.003610	0	0
ZFHX3	463	broad.mit.edu	37	16	72827388	72827388	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:72827388C>T	uc002fck.3	-	8	9866	c.9193G>A	c.(9193-9195)Gaa>Aaa	p.E3065K	ZFHX3_uc002fcl.3_Missense_Mutation_p.E2151K	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA.	3065					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				TCAAAGTATTCTTTCTCCTTG	0.498000														100			28		0	0	0.003755	0	0
IMPACT	55364	broad.mit.edu	37	18	22023081	22023081	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr18:22023081C>T	uc002kvh.4	+	6	671	c.559C>T	c.(559-561)Cag>Tag	p.Q187*	IMPACT_uc002kvg.4_Nonsense_Mutation_p.Q169*	NM_018439	NP_060909	Q9P2X3	IMPCT_HUMAN	Homo sapiens Impact homolog (mouse) (IMPACT), mRNA.	187										endometrium(1)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(2)	16	all_cancers(21;0.00018)|all_epithelial(16;1.5e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991)					AAGTACTTTTCAGGCACACTT	0.343000														77			31		0	0	0.003271	0	0
PTGS1	5742	broad.mit.edu	37	9	125140808	125140808	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:125140808A>T	uc004bmg.1	+	3	443	c.308A>T	c.(307-309)aAt>aTt	p.N103I	PTGS1_uc011lys.1_Missense_Mutation_p.N78I|PTGS1_uc010mwb.1_5'UTR|PTGS1_uc004bmf.1_Missense_Mutation_p.N103I|PTGS1_uc004bmh.1_5'UTR|PTGS1_uc011lyt.1_5'UTR	NM_000962	NP_000953	P23219	PGH1_HUMAN	Homo sapiens prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase) (PTGS1), transcript variant 1, mRNA.	103					cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	Golgi apparatus|endoplasmic reticulum membrane|microsome|plasma membrane	heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500)|gamma-Homolinolenic acid(DB00154)	GAGTTTGTCAATGCCACCTTC	0.627000														36			20		0	0	0.008871	0	0
ADH6	130	broad.mit.edu	37	4	100129951	100129951	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:100129951C>T	uc003huo.2	-	5	796	c.702G>A	c.(700-702)caG>caA	p.Q234Q	LOC100507053_uc003hum.2_Intron|ADH6_uc011cef.1_Silent_p.Q25Q|ADH6_uc003hup.4_Silent_p.Q234Q|ADH6_uc010ile.3_Silent_p.Q234Q	NM_001102470	NP_001095940	P28332	ADH6_HUMAN	Homo sapiens alcohol dehydrogenase 6 (class V) (ADH6), transcript variant 1, mRNA.	234					ethanol oxidation|response to ethanol|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|electron carrier activity|zinc ion binding			breast(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)	20				OV - Ovarian serous cystadenocarcinoma(123;3.58e-08)	Abacavir(DB01048)|NADH(DB00157)	CACCCAATTCCTGTGCCTTCT	0.453000														221			91		0	0	0.003610	0	0
IL27RA	9466	broad.mit.edu	37	19	14159847	14159847	+	Missense_Mutation	SNP	C	T	T	rs148333746	by1000genomes	TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:14159847C>T	uc002mxx.3	+	8	1619	c.1196C>T	c.(1195-1197)tCa>tTa	p.S399L		NM_004843	NP_004834	Q6UWB1	I27RA_HUMAN	Homo sapiens interleukin 27 receptor, alpha (IL27RA), mRNA.	399	Fibronectin type-III 2.				cell surface receptor linked signaling pathway|immune response	integral to plasma membrane	transmembrane receptor activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	26						GTCTCTGCTTCAGGCTTGGCC	0.552000											OREG0025303	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		37			15		0	0	0.008871	0	0
PLG	5340	broad.mit.edu	37	6	161173178	161173178	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:161173178C>T	uc003qtm.4	+	17	2269	c.2157C>T	c.(2155-2157)gcC>gcT	p.A719A		NM_000301	NP_000292	P00747	PLMN_HUMAN	Homo sapiens plasminogen (PLG), transcript variant 1, mRNA.	719	Peptidase S1.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	TCAAGGAAGCCCAGCTCCCTG	0.468000														33			14		0	0	0.002450	0	0
SSPO	23145	broad.mit.edu	37	7	149480748	149480748	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:149480748G>A	uc010lpk.3	+	16	2454	c.2454G>A	c.(2452-2454)agG>agA	p.R818R	SSPO_uc010lpl.1_Silent_p.R153R	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	818					cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CTCCCTGGAGGAACCAGACCC	0.662000														68			23		0	0	0.003330	0	0
FCRL3	115352	broad.mit.edu	37	1	157668383	157668383	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:157668383G>A	uc001fqz.4	-	3	381	c.89C>T	c.(88-90)cCa>cTa	p.P30L	FCRL3_uc001fqx.4_Non-coding_Transcript|FCRL3_uc001fqy.4_Non-coding_Transcript|FCRL3_uc009wsn.3_Non-coding_Transcript|FCRL3_uc009wso.3_Non-coding_Transcript|FCRL3_uc001fra.3_5'Flank|FCRL3_uc001frb.3_Missense_Mutation_p.P30L|FCRL3_uc001frc.1_Missense_Mutation_p.P30L	NM_052939	NP_443171	Q96P31	FCRL3_HUMAN	Homo sapiens Fc receptor-like 3 (FCRL3), mRNA.	30	Ig-like C2-type 1.					integral to membrane|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					TGTGGACCATGGAGGATTGAG	0.502000														44			16		0	0	0.004990	0	0
PUM2	23369	broad.mit.edu	37	2	20463104	20463104	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:20463104G>A	uc002rds.1	-	12	2093	c.2075C>T	c.(2074-2076)cCt>cTt	p.P692L	PUM2_uc002rdq.1_Missense_Mutation_p.P69L|PUM2_uc002rdt.1_Missense_Mutation_p.P692L|PUM2_uc002rdr.2_Missense_Mutation_p.P552L|PUM2_uc010yjy.1_Missense_Mutation_p.P613L|PUM2_uc002rdu.1_Missense_Mutation_p.P692L|PUM2_uc010yjz.1_Missense_Mutation_p.P631L	NM_015317	NP_056132	Q8TB72	PUM2_HUMAN	Homo sapiens pumilio homolog 2 (Drosophila) (PUM2), mRNA.	692					regulation of translation	perinuclear region of cytoplasm|stress granule	RNA binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3)	42	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AAGCCGGGAAGGAGGAAAGAG	0.463000														30			10		0	0	0.008291	0	0
MYOC	4653	broad.mit.edu	37	1	171605338	171605338	+	Silent	SNP	T	C	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:171605338T>C	uc001ghu.3	-	2	1264	c.1242A>G	c.(1240-1242)gaA>gaG	p.E414E	MYOC_uc010pmk.2_Silent_p.E356E	NM_000261	NP_000252	Q99972	MYOC_HUMAN	Homo sapiens myocilin, trabecular meshwork inducible glucocorticoid response (MYOC), mRNA.	414	Olfactomedin-like.		E -> K.		anatomical structure morphogenesis	cilium|extracellular space|rough endoplasmic reticulum	structural molecule activity	p.E414K(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(1)|urinary_tract(2)	28	all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					CCCAGGTTTGTTCGAGTTCCA	0.522000														63			45		0	0	0.003610	0	0
AVIL	10677	broad.mit.edu	37	12	58200210	58200210	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:58200210G>A	uc001sqj.2	-	12	1633	c.1604C>T	c.(1603-1605)tCc>tTc	p.S535F	AVIL_uc009zqe.2_Missense_Mutation_p.S528F|AVIL_uc001sqk.1_Missense_Mutation_p.S113F|AVIL_uc001sql.4_Missense_Mutation_p.S512F	NM_006576	NP_006567	O75366	AVIL_HUMAN	Homo sapiens advillin (AVIL), mRNA.	535	Core (By similarity).				actin filament capping|cilium morphogenesis|cytoskeleton organization|positive regulation of neuron projection development	actin cytoskeleton|axon|cytoplasm	actin binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(6)	32	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)					GTTTAGGGAGGAGGCAAAGGC	0.527000														29			20		0	0	0.007413	0	0
SEMA3G	56920	broad.mit.edu	37	3	52475648	52475648	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:52475648G>A	uc003dea.1	-	5	609	c.609C>T	c.(607-609)ttC>ttT	p.F203F		NM_020163	NP_064548	Q9NS98	SEM3G_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G (SEMA3G), mRNA.	203	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)		CTCCACTTCGGAAGATCATGG	0.642000														12			17		0	0	0.007413	0	0
INHBA	3624	broad.mit.edu	37	7	41729932	41729932	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:41729932C>T	uc003thq.3	-	1	832	c.597G>A	c.(595-597)ggG>ggA	p.G199G	INHBA_uc003thr.3_Silent_p.G199G	NM_002192	NP_002183	P08476	INHBA_HUMAN	Homo sapiens inhibin, beta A (INHBA), mRNA.	199					G1/S transition of mitotic cell cycle|cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway	activin A complex|inhibin A complex	cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity			biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						CACTCCTCTCCCCCTTTAAGC	0.587000										TSP Lung(11;0.080)				21			9		0	0	0.006214	0	0
RALGAPA1	253959	broad.mit.edu	37	14	36154224	36154224	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:36154224G>A	uc001wtj.3	-	18	3078	c.2687C>T	c.(2686-2688)cCt>cTt	p.P896L	RALGAPA1_uc001wti.3_Missense_Mutation_p.P896L|RALGAPA1_uc010tpv.2_Missense_Mutation_p.P909L|RALGAPA1_uc010tpw.1_Missense_Mutation_p.P943L|RALGAPA1_uc001wtk.1_Missense_Mutation_p.P794L	NM_194301	NP_919277	Q6GYQ0	RGPA1_HUMAN	Homo sapiens Ral GTPase activating protein, alpha subunit 1 (catalytic) (RALGAPA1), transcript variant 2, mRNA.	896					activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	Ral GTPase activator activity|protein heterodimerization activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TGCACTGGCAGGAGAAGTCCA	0.478000														14			7		0	0	0.006214	0	0
PRR11	55771	broad.mit.edu	37	17	57262831	57262831	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:57262831C>T	uc002ixf.2	+	3	622	c.310C>T	c.(310-312)Cca>Tca	p.P104S	PRR11_uc021uar.1_Non-coding_Transcript	NM_018304	NP_060774	Q96HE9	PRR11_HUMAN	Homo sapiens proline rich 11 (PRR11), mRNA.	104										breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|pancreas(1)	16	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					CACCATCTTTCCATCTCGTAT	0.353000														54			15		0	0	0.004990	0	0
CNTN5	53942	broad.mit.edu	37	11	100169975	100169975	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:100169975G>A	uc001pga.3	+	19	2971	c.2467G>A	c.(2467-2469)Gaa>Aaa	p.E823K	CNTN5_uc001pfz.3_Missense_Mutation_p.E823K|CNTN5_uc021qpb.1_Missense_Mutation_p.E823K|CNTN5_uc021qpc.1_Missense_Mutation_p.E749K|CNTN5_uc010ruk.2_Missense_Mutation_p.E94K	NM_014361	NP_055176	O94779	CNTN5_HUMAN	Homo sapiens contactin 5 (CNTN5), transcript variant 1, mRNA.	823	Fibronectin type-III 2.				cell adhesion	anchored to membrane|plasma membrane	protein binding	p.E823K(2)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		TGGCTGGAAGGAAAAAATGGT	0.408000														27			14		0	0	0.003163	0	0
BCAT1	586	broad.mit.edu	37	12	25031472	25031472	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:25031472C>T	uc001rgd.4	-	4	1029	c.502G>A	c.(502-504)Gga>Aga	p.G168R	BCAT1_uc001rgc.3_Missense_Mutation_p.G167R|BCAT1_uc010six.2_Missense_Mutation_p.G180R|BCAT1_uc010siy.2_Missense_Mutation_p.G131R|BCAT1_uc001rge.4_Missense_Mutation_p.G107R	NM_005504	NP_005495	P54687	BCAT1_HUMAN	Homo sapiens branched chain amino-acid transaminase 1, cytosolic (BCAT1), transcript variant 1, mRNA.	168					G1/S transition of mitotic cell cycle|branched chain family amino acid biosynthetic process|branched chain family amino acid catabolic process|cell proliferation	cytosol	L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity			breast(1)|large_intestine(1)|lung(3)|prostate(2)	7	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Ovarian(17;0.107)|Colorectal(261;0.196)				Gabapentin(DB00996)|L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|L-Valine(DB00161)|Pyridoxal Phosphate(DB00114)	ACCTCAGTTCCAATGAATGTA	0.373000														33			12		0	0	0.001855	0	0
SCN2A	6326	broad.mit.edu	37	2	166229797	166229798	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:166229797_166229798CC>TT	uc002udc.3	+	20	4202_4203	c.3912_3913CC>TT	c.(3910-3915)tccctc>tcTTtc	p.L1305F	SCN2A_uc002udd.3_Missense_Mutation_p.L1305F|SCN2A_uc002ude.3_Missense_Mutation_p.L1305F	NM_001040142	NP_066287	Q99250	SCN2A_HUMAN	Homo sapiens sodium channel, voltage-gated, type II, alpha subunit (SCN2A), transcript variant 2, mRNA.	1305					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.S1304S(3)		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)	CCATCAAATCCCTCAGAACACT	0.406000														73			26		0	0	0.004672	0	0
NLRC5	84166	broad.mit.edu	37	16	57060774	57060774	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:57060774C>T	uc021tiu.1	+	4	2046	c.1919C>T	c.(1918-1920)cCc>cTc	p.P640L	NLRC5_uc021tit.1_Missense_Mutation_p.P640L|NLRC5_uc010ccq.1_Non-coding_Transcript|NLRC5_uc021tiv.1_Missense_Mutation_p.P445L|NLRC5_uc021tiw.1_Missense_Mutation_p.P445L|NLRC5_uc010ccr.1_Non-coding_Transcript	NM_032206	NP_115582	Q86WI3	NLRC5_HUMAN	Homo sapiens NLR family, CARD domain containing 5 (NLRC5), mRNA.	640					defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|RNA polymerase II core promoter sequence-specific DNA binding|protein binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				TATCAACTGCCCTTCCACAAT	0.582000														37			14		0	0	0.001855	0	0
FAM214A	56204	broad.mit.edu	37	15	52905952	52905952	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:52905952C>T	uc010ugf.2	-	1	274	c.140G>A	c.(139-141)cGa>cAa	p.R47Q	FAM214A_uc002acg.4_Missense_Mutation_p.R40Q|FAM214A_uc002ach.4_Non-coding_Transcript|FAM214A_uc010bfg.1_Intron	NM_019600	NP_062546	Q32MH5	K1370_HUMAN	Homo sapiens family with sequence similarity 214, member A (FAM214A), mRNA.	40																	GCTTTCTGTTCGACCTTTTAC	0.433000														21			6		0	0	0.001168	0	0
EFEMP2	30008	broad.mit.edu	37	11	65638023	65638023	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:65638023G>A	uc001ofy.4	-	4	733	c.474C>T	c.(472-474)atC>atT	p.I158I	EFEMP2_uc001ofz.3_Non-coding_Transcript	NM_016938	NP_058634	O95967	FBLN4_HUMAN	Homo sapiens EGF containing fibulin-like extracellular matrix protein 2 (EFEMP2), transcript variant 1, mRNA.	158	EGF-like 2; calcium-binding (Potential).				blood coagulation	basement membrane|membrane	calcium ion binding|extracellular matrix structural constituent|protein binding|transmembrane receptor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21				READ - Rectum adenocarcinoma(159;0.169)		ACTCGGGCCCGATCTTGCGGT	0.622000														15			7		0	0	0.003080	0	0
PLCB1	23236	broad.mit.edu	37	20	8707959	8707959	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr20:8707959G>A	uc002wnb.3	+	16	1685	c.1682G>A	c.(1681-1683)aGa>aAa	p.R561K	PLCB1_uc010zrb.1_Missense_Mutation_p.R460K|PLCB1_uc002wna.3_Missense_Mutation_p.R561K|PLCB1_uc002wnc.1_Missense_Mutation_p.R460K|PLCB1_uc002wnd.1_Missense_Mutation_p.R138K	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN	Homo sapiens phospholipase C, beta 1 (phosphoinositide-specific) (PLCB1), transcript variant 1, mRNA.	561	PI-PLC Y-box.				CD24 biosynthetic process|G1 phase|G2/M transition of mitotic cell cycle|activation of meiosis involved in egg activation|cerebral cortex development|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of JNK cascade|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of G-protein coupled receptor protein signaling pathway|regulation of fertilization|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	GTPase activator activity|calcium ion binding|calmodulin binding|enzyme binding|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						AACTCAGAAAGAAATAAAAGT	0.318000														47			10		0	0	0.006214	0	0
KCNC3	3748	broad.mit.edu	37	19	50827210	50827210	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:50827210G>A	uc002pru.1	-	1	1295	c.1000C>T	c.(1000-1002)Ccg>Tcg	p.P334S	KCNC3_uc002prt.1_5'UTR	NM_004977	NP_004968	Q14003	KCNC3_HUMAN	Homo sapiens potassium voltage-gated channel, Shaw-related subfamily, member 3 (KCNC3), mRNA.	334					cell death	voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(2)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)	13		all_neural(266;0.057)|Ovarian(192;0.208)		OV - Ovarian serous cystadenocarcinoma(262;0.00283)|GBM - Glioblastoma multiforme(134;0.0181)		ATGTTCTCCGGAGGTGCCCCG	0.597000														32			10		0	0	0.006214	0	0
SBK1	388228	broad.mit.edu	37	16	28331765	28331765	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:28331765C>T	uc002dpd.3	+	3	1587	c.798C>T	c.(796-798)ttC>ttT	p.F266F		NM_001024401	NP_001019572	Q52WX2	SBK1_HUMAN	Homo sapiens SH3-binding domain kinase 1 (SBK1), mRNA.	266	Protein kinase.					cytoplasm	ATP binding|protein serine/threonine kinase activity			kidney(1)|lung(3)|ovary(1)	5						TCGAGGAGTTCGTGCGCTGGC	0.716000														23			11		0	0	0.002450	0	0
CA8	767	broad.mit.edu	37	8	61192324	61192324	+	Silent	SNP	T	C	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:61192324T>C	uc003xtz.1	-	1	464	c.216A>G	c.(214-216)ccA>ccG	p.P72P	CA8_uc003xua.1_Silent_p.P72P|CA8_uc003xub.3_Silent_p.P72P	NM_004056	NP_004047	P35219	CAH8_HUMAN	Homo sapiens carbonic anhydrase VIII (CA8), mRNA.	72					one-carbon metabolic process		carbonate dehydratase activity|zinc ion binding			endometrium(2)|large_intestine(5)|lung(6)|prostate(2)|skin(1)	16		all_cancers(86;0.172)|all_epithelial(80;0.0383)|all_lung(136;0.0413)|Lung NSC(129;0.0474)				CCACATAATTTGGGGAGAGGC	0.438000														37			18		0	0	0.007413	0	0
IGSF9	57549	broad.mit.edu	37	1	159907537	159907537	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:159907537C>T	uc001fur.2	-	3	537	c.339G>A	c.(337-339)ctG>ctA	p.L113L	IGSF9_uc001fuq.2_Silent_p.L113L	NM_001135050	NP_001128522	Q9P2J2	TUTLA_HUMAN	Homo sapiens immunoglobulin superfamily, member 9 (IGSF9), transcript variant 1, mRNA.	113	Ig-like 1.					cell junction|integral to membrane|synapse				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			TGTGCTGGTCCAGGAAGAACA	0.607000														40			20		0	0	0.001523	0	0
DCLK3	85443	broad.mit.edu	37	3	36779922	36779922	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:36779922C>T	uc003cgi.2	-	1	720	c.229G>A	c.(229-231)Ggg>Agg	p.G77R		NM_033403	NP_208382	Q9C098	DCLK3_HUMAN	Homo sapiens doublecortin-like kinase 3 (DCLK3), mRNA.	77						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						GGGATCTTCCCCTGGTGCCTC	0.602000														87			44		0	0	0.003610	0	0
OR2T6	254879	broad.mit.edu	37	1	248551611	248551611	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:248551611G>A	uc001iei.1	+	0	702	c.702G>A	c.(700-702)agG>agA	p.R234R		NM_001005471	NP_001005471	Q8NHC8	OR2T6_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 6 (OR2T6), mRNA.	234					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55	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)			CTGAAGGGAGGAAGAAGGCCT	0.522000														60			34		0	0	0.002836	0	0
PGK2	5232	broad.mit.edu	37	6	49754646	49754646	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:49754646G>A	uc003ozu.3	-	0	408	c.255C>T	c.(253-255)ctC>ctT	p.L85L		NM_138733	NP_620061	P07205	PGK2_HUMAN	Homo sapiens phosphoglycerate kinase 2 (PGK2), mRNA.	85					glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity	p.L85I(1)		autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					GCAAGGATTTGAGCTCAACAG	0.512000														59			20		0	0	0.001523	0	0
MUC16	94025	broad.mit.edu	37	19	9061857	9061857	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:9061857C>T	uc002mkp.3	-	2	25793	c.25589G>A	c.(25588-25590)gGa>gAa	p.G8530E		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	8532	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						GTGTGAAAATCCTGGAGATGC	0.522000														50			24		0	0	0.003330	0	0
C9orf131	138724	broad.mit.edu	37	9	35044975	35044975	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:35044975G>A	uc003zvw.3	+	1	2378	c.2349G>A	c.(2347-2349)tgG>tgA	p.W783*	C9orf131_uc003zvu.3_Nonsense_Mutation_p.W735*|C9orf131_uc003zvv.3_Nonsense_Mutation_p.W710*|C9orf131_uc003zvx.3_Nonsense_Mutation_p.W748*	NM_203299	NP_976044	Q5VYM1	CI131_HUMAN	Homo sapiens chromosome 9 open reading frame 131 (C9orf131), transcript variant 1, mRNA.	783										cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			CCTGGCAGTGGAGTAGAGAGC	0.582000														60			43		0	0	0.002522	0	0
GRM6	2916	broad.mit.edu	37	5	178408731	178408731	+	Missense_Mutation	SNP	C	T	T	rs145110689		TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:178408731C>T	uc003mjr.3	-	9	2740	c.2561G>A	c.(2560-2562)cGa>cAa	p.R854Q	GRM6_uc003mjq.3_Missense_Mutation_p.R257Q	NM_000843	NP_000834	O15303	GRM6_HUMAN	Homo sapiens glutamate receptor, metabotropic 6 (GRM6), mRNA.	854					detection of visible light|visual perception	integral to plasma membrane		p.R854*(1)		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)		GCTCCGCTTTCGCTTCTGCAC	0.612000														56			33		0	0	0.002836	0	0
CCDC14	64770	broad.mit.edu	37	3	123666084	123666084	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:123666084G>A	uc011bjx.2	-	7	1002	c.911C>T	c.(910-912)tCa>tTa	p.S304L	CCDC14_uc003egv.4_Intron|CCDC14_uc003egx.4_Missense_Mutation_p.S104L|CCDC14_uc010hrt.3_Missense_Mutation_p.S263L|CCDC14_uc003egy.4_Missense_Mutation_p.S104L|CCDC14_uc003egz.2_Missense_Mutation_p.S104L	NM_022757	NP_073594	Q49A88	CCD14_HUMAN	Homo sapiens coiled-coil domain containing 14 (CCDC14), mRNA.	304						centrosome				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)	21		Lung NSC(201;0.0371)|Prostate(884;0.0405)|Myeloproliferative disorder(1037;0.205)		Lung(219;0.00942)|GBM - Glioblastoma multiforme(114;0.159)		GGTATTAAATGAATTCCGTAG	0.408000														73			30		0	0	0.008361	0	0
LOXL4	84171	broad.mit.edu	37	10	100017523	100017523	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:100017523C>T	uc001kpa.1	-	7	1295	c.1144G>A	c.(1144-1146)Gga>Aga	p.G382R		NM_032211	NP_115587	Q96JB6	LOXL4_HUMAN	Homo sapiens lysyl oxidase-like 4 (LOXL4), mRNA.	382	SRCR 3.					extracellular space|membrane	copper ion binding|protein binding|scavenger receptor activity			breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(8)|ovary(4)|prostate(1)|skin(2)	26		Colorectal(252;0.234)		Epithelial(162;2.14e-11)|all cancers(201;2.49e-09)		CGCTCATATCCCCTGCAGCGC	0.587000														42			17		0	0	0.007413	0	0
JMJD1C	221037	broad.mit.edu	37	10	64968437	64968437	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:64968437C>T	uc001jmn.3	-	9	3292	c.2992G>A	c.(2992-2994)Gat>Aat	p.D998N	JMJD1C_uc001jml.3_Missense_Mutation_p.D779N|JMJD1C_uc001jmm.3_Missense_Mutation_p.D710N|JMJD1C_uc010qiq.2_Missense_Mutation_p.D816N|JMJD1C_uc009xpi.3_Missense_Mutation_p.D816N|JMJD1C_uc009xpj.2_Non-coding_Transcript|JMJD1C_uc009xpk.1_Missense_Mutation_p.D35N	NM_032776	NP_116165	Q15652	JHD2C_HUMAN	Homo sapiens jumonji domain containing 1C (JMJD1C), transcript variant 1, mRNA.	998					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)					AATACTGGATCCACAAAATGC	0.418000														103			38		0	0	0.007835	0	0
FRMPD1	22844	broad.mit.edu	37	9	37746220	37746221	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:37746220_37746221CC>TT	uc004aag.1	+	15	4235_4236	c.4191_4192CC>TT	c.(4189-4194)agccac>agTTac	p.H1398Y	FRMPD1_uc004aah.1_Missense_Mutation_p.H1398Y	NM_014907	NP_055722	Q5SYB0	FRPD1_HUMAN	Homo sapiens FERM and PDZ domain containing 1 (FRMPD1), mRNA.	1398						cytoskeleton|cytosol|plasma membrane				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		CGAGGAAAAGCCACATCTGGCC	0.653000														11			13		0	0	0.004672	0	0
NDNF	79625	broad.mit.edu	37	4	121958041	121958041	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:121958041A>C	uc003idq.1	-	3	1612	c.1085T>G	c.(1084-1086)tTt>tGt	p.F362C		NM_024574	NP_078850	Q8TB73	CD031_HUMAN	Homo sapiens neuron-derived neurotrophic factor (NDNF), mRNA.	362										breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1)	29						AAACCGTAGAAACTTTGCTCC	0.428000														52			30		0	0	0.008361	0	0
EPB41L1	2036	broad.mit.edu	37	20	34810283	34810283	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr20:34810283C>T	uc010gfq.3	+	10	3261	c.2898C>T	c.(2896-2898)gaC>gaT	p.D966D	EPB41L1_uc002xeu.3_Silent_p.D766D|EPB41L1_uc002xev.3_Silent_p.D867D|EPB41L1_uc002xew.3_Silent_p.D759D|EPB41L1_uc002xex.3_Silent_p.D688D|EPB41L1_uc002xey.3_Silent_p.D618D|EPB41L1_uc002xez.3_Silent_p.D766D|EPB41L1_uc002xfb.3_Silent_p.D868D	NM_012156	NP_036288	Q9H4G0	E41L1_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1-like 1 (EPB41L1), transcript variant 1, mRNA.	868					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)					GAGAAACAGACCCATCCCCAG	0.552000														55			48		0	0	0.003610	0	0
SIGLEC7	27036	broad.mit.edu	37	19	51650087	51650087	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:51650087C>T	uc002pvv.1	+	4	1173	c.1104C>T	c.(1102-1104)tcC>tcT	p.S368S	SIGLEC7_uc002pvw.1_Silent_p.S275S|SIGLEC7_uc010eoq.1_Intron|SIGLEC7_uc010eor.1_Intron	NM_014385	NP_055200	Q9Y286	SIGL7_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 7 (SIGLEC7), transcript variant 1, mRNA.	368					cell adhesion	integral to plasma membrane	receptor activity|sugar binding	p.S368F(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(11)|skin(2)|stomach(1)	29		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297)		TCTTCCTCTCCTTCTGTGTCA	0.587000														58			31		0	0	0.003755	0	0
CSRNP1	64651	broad.mit.edu	37	3	39186737	39186737	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:39186737G>A	uc003cjg.3	-	2	430	c.216C>T	c.(214-216)atC>atT	p.I72I	CSRNP1_uc003cjh.3_Silent_p.I72I	NM_033027	NP_149016	Q96S65	CSRN1_HUMAN	Homo sapiens cysteine-serine-rich nuclear protein 1 (CSRNP1), mRNA.	72					apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|skin(3)	24						CCCGCTTCAGGATAGACAGGG	0.592000														13			29		0	0	0.002445	0	0
NPSR1	387129	broad.mit.edu	37	7	34724193	34724193	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:34724193C>T	uc003teh.1	+	1	305	c.177C>T	c.(175-177)ctC>ctT	p.L59L	NPSR1-AS1_uc010kwo.2_Intron|NPSR1-AS1_uc010kwp.2_Intron|NPSR1-AS1_uc003tdz.3_Intron|NPSR1-AS1_uc010kwq.2_Intron|NPSR1-AS1_uc003teb.1_Intron|NPSR1-AS1_uc011kaq.1_Intron|NPSR1_uc003teg.1_Silent_p.L59L|NPSR1_uc010kwt.1_5'UTR|NPSR1_uc010kwu.1_5'UTR|NPSR1_uc010kwv.1_Silent_p.L59L|NPSR1_uc003tei.1_Silent_p.L59L|NPSR1_uc010kww.1_Silent_p.L59L|NPSR1_uc011kar.1_Silent_p.L59L	NM_207173	NP_997056	Q6W5P4	NPSR1_HUMAN	Homo sapiens neuropeptide S receptor 1 (NPSR1), transcript variant 2, mRNA.	59						cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	TGTGGGTCCTCTTTGTTTTTA	0.428000														83			23		0	0	0.004656	0	0
APIP	51074	broad.mit.edu	37	11	34916658	34916658	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:34916658C>T	uc010reo.1	-	3	261	c.109_splice	c.e3-1	p.D37_splice	APIP_uc001mvs.2_Splice_Site_p.D20_splice			Q96GX9	MTNB_HUMAN	Homo sapiens APAF1 interacting protein (APIP), mRNA.	20					L-methionine salvage|apoptosis	cytoplasm	identical protein binding|metal ion binding|methylthioribulose 1-phosphate dehydratase activity			kidney(2)|lung(1)|skin(1)	4	all_epithelial(35;0.161)	all_hematologic(20;0.107)	STAD - Stomach adenocarcinoma(6;0.000425)			GCTCCTTGTCCTTAAAAAGAA	0.368000														57			17		0	0	0.004990	0	0
PTPRD	5789	broad.mit.edu	37	9	8518111	8518111	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:8518111C>T	uc003zkk.3	-	20	2023	c.1280G>A	c.(1279-1281)cGa>cAa	p.R427Q	PTPRD_uc003zkp.3_Missense_Mutation_p.R427Q|PTPRD_uc003zkq.3_Missense_Mutation_p.R427Q|PTPRD_uc003zkr.3_Missense_Mutation_p.R421Q|PTPRD_uc003zks.3_Missense_Mutation_p.R417Q|PTPRD_uc022bdj.1_Missense_Mutation_p.R424Q	NM_002839	NP_002830	P23468	PTPRD_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA.	427	Fibronectin type-III 2.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.A426E(1)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		ACTCAACATTCGTGCCTGGAC	0.502000										TSP Lung(15;0.13)				103			28		0	0	0.007291	0	0
TRPV1	7442	broad.mit.edu	37	17	3495396	3495396	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:3495396G>A	uc010vro.2	-	0	282	c.249C>T	c.(247-249)acC>acT	p.T83T	TRPV1_uc010vrp.2_Silent_p.T83T|TRPV1_uc010vrq.2_Missense_Mutation_p.P58L|TRPV1_uc010vrr.2_Silent_p.T83T|TRPV1_uc010vrs.2_Silent_p.T83T|TRPV1_uc010vrt.2_Silent_p.T83T|TRPV1_uc010vru.2_Silent_p.T83T	NM_080706	NP_542437	Q8NER1	TRPV1_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 1 (TRPV1), transcript variant 3, mRNA.	83					cell surface receptor linked signaling pathway|chemosensory behavior|thermoception	cell junction|dendritic spine membrane|integral to plasma membrane|postsynaptic membrane	ATP binding|calcium channel activity|calmodulin binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	17				Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131)	Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159)	GCCTCTGGATGGTGATAACAG	0.652000														30			8		0	0	0.006214	0	0
TPR	7175	broad.mit.edu	37	1	186292853	186292853	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:186292853G>A	uc001grv.3	-	42	6559	c.6262C>T	c.(6262-6264)Cat>Tat	p.H2088Y	MIR548F1_uc021pgf.1_Intron	NM_003292	NP_003283	P12270	TPR_HUMAN	Homo sapiens translocated promoter region (to activated MET oncogene) (TPR), mRNA.	2088					carbohydrate metabolic process|glucose transport|mRNA transport|mitotic cell cycle spindle assembly checkpoint|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		GGTGGGGCATGAATGGTCAGT	0.483000			T	NTRK1	papillary thyroid									111			49		0	0	0.003610	0	0
SULF2	55959	broad.mit.edu	37	20	46331341	46331341	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr20:46331341G>A	uc002xto.3	-	3	819	c.489C>T	c.(487-489)ctC>ctT	p.L163L	SULF2_uc002xtr.3_Silent_p.L163L|SULF2_uc002xtq.3_Silent_p.L163L|SULF2_uc010ghv.1_Silent_p.L163L	NM_018837	NP_061325	Q8IWU5	SULF2_HUMAN	Homo sapiens sulfatase 2 (SULF2), transcript variant 1, mRNA.	163					bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	Golgi stack|cell surface|endoplasmic reticulum|extracellular space	arylsulfatase activity|calcium ion binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						AGTTTTTAAGGAGTCCGACCC	0.542000														40			25		0	0	0.006320	0	0
KRTAP5-5	439915	broad.mit.edu	37	11	1651510	1651510	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:1651510G>A	uc001lty.3	+	0	478	c.440G>A	c.(439-441)gGg>gAg	p.G147E	MOB2_uc001ltq.2_Intron	NM_001001480	NP_001001480	Q701N2	KRA55_HUMAN	Homo sapiens keratin associated protein 5-5 (KRTAP5-5), mRNA.	147	8 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		GGGTCCAAGGGGGGCTGTGGT	0.677000														37			21		0	0	0.006320	0	0
CPSF1	29894	broad.mit.edu	37	8	145619979	145619980	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:145619979_145619980GG>AA	uc003zcj.3	-	30	3521_3522	c.3446_3447CC>TT	c.(3445-3447)ccc>cTT	p.P1149L	MIR939_uc022bcn.1_5'Flank	NM_013291	NP_037423	Q10570	CPSF1_HUMAN	Homo sapiens cleavage and polyadenylation specific factor 1, 160kDa (CPSF1), mRNA.	1149					mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	mRNA 3'-UTR binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			GGCCAGGCTCGGGCACCACCTC	0.614000														24			9		0	0	0.004672	0	0
NOTCH2NL	388677	broad.mit.edu	37	1	145273348	145273348	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:145273348C>T	uc001emn.4	+	2	572	c.202C>T	c.(202-204)Cat>Tat	p.H68Y	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|NOTCH2NL_uc001emm.4_Missense_Mutation_p.H68Y|NOTCH2NL_uc001emo.2_Missense_Mutation_p.H68Y|NBPF10_uc010oyh.1_Non-coding_Transcript|NBPF10_uc021ouk.1_5'UTR	NM_203458	NP_982283	Q7Z3S9	NT2NL_HUMAN	Homo sapiens notch 2 N-terminal like (NOTCH2NL), mRNA.	68	EGF-like 3.				Notch signaling pathway|cell differentiation|multicellular organismal development	cytoplasm|extracellular region	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	27						CTCGACATCTCATCCATGCTT	0.557000														876			50		0	0	0.003610	0	0
SLC47A1	55244	broad.mit.edu	37	17	19451383	19451383	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:19451383G>A	uc002gvx.3	+	3	478	c.392G>A	c.(391-393)tGg>tAg	p.W131*	SLC47A1_uc010vyy.1_Non-coding_Transcript|SLC47A1_uc002gvy.1_Nonsense_Mutation_p.W131*|SLC47A1_uc010vyz.1_Nonsense_Mutation_p.W108*|SLC47A1_uc010cqp.1_Nonsense_Mutation_p.W131*|SLC47A1_uc010cqq.1_5'UTR	NM_018242	NP_060712	Q96FL8	S47A1_HUMAN	Homo sapiens solute carrier family 47, member 1 (SLC47A1), mRNA.	131						integral to membrane|plasma membrane	drug:hydrogen antiporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(5)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345)					TTCCCCTGCTGGGCGCTCTTT	0.622000														24			10		0	0	0.006214	0	0
CYTH4	27128	broad.mit.edu	37	22	37708142	37708142	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr22:37708142G>A	uc003arf.3	+	11	1155	c.1039G>A	c.(1039-1041)Gag>Aag	p.E347K	CYTH4_uc011amw.2_Missense_Mutation_p.E290K	NM_013385	NP_037517	Q9UIA0	CYH4_HUMAN	Homo sapiens cytohesin 4 (CYTH4), mRNA.	347	PH.				regulation of ARF protein signal transduction|regulation of cell adhesion	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(2)|stomach(1)	15						CAGGGTGGTGGAGGGCAAGCA	0.632000														28			12		0	0	0.000978	0	0
ACAN	176	broad.mit.edu	37	15	89400745	89400745	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:89400745C>T	uc010upo.1	+	11	5303	c.4929C>T	c.(4927-4929)ccC>ccT	p.P1643P	ACAN_uc010upp.1_Silent_p.P1643P|ACAN_uc002bna.2_Non-coding_Transcript	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA.	1643					cell adhesion		hyaluronic acid binding|sugar binding	p.S1642S(1)		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)			GTGGCCCACCCTCTGGCCTGC	0.522000														80			28		0	0	0.008361	0	0
TAF1L	138474	broad.mit.edu	37	9	32632307	32632307	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:32632307G>A	uc003zrg.1	-	0	3361	c.3271C>T	c.(3271-3273)Cta>Tta	p.L1091L	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.	1091					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)		TTGTTCTGTAGGTCAAAGATA	0.443000														53			46		0	0	0.002222	0	0
TAF1C	9013	broad.mit.edu	37	16	84212935	84212935	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:84212935G>A	uc002fhn.3	-	13	2464	c.2222C>T	c.(2221-2223)tCg>tTg	p.S741L	TAF1C_uc010vnz.2_Missense_Mutation_p.S409L|TAF1C_uc002fho.3_Missense_Mutation_p.S264L|TAF1C_uc010voa.2_Missense_Mutation_p.S409L|TAF1C_uc002fhm.3_Missense_Mutation_p.S647L|TAF1C_uc010vnx.2_Missense_Mutation_p.S715L|TAF1C_uc010vny.2_Missense_Mutation_p.S332L	NM_005679	NP_001230088	Q15572	TAF1C_HUMAN	Homo sapiens TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa (TAF1C), transcript variant 1, mRNA.	741					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding			endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	26						CCCGGGCTCCGAGGTCCTGCC	0.687000														14			9		0	0	0.004482	0	0
APOBR	55911	broad.mit.edu	37	16	28509498	28509498	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:28509498C>T	uc002dqb.2	+	2	3085	c.3052C>T	c.(3052-3054)Cgt>Tgt	p.R1018C	NPIPL1_uc010vct.2_Intron|APOBR_uc010byg.2_Missense_Mutation_p.R547C	NM_018690	NP_061160	Q0VD83	APOBR_HUMAN	Homo sapiens apolipoprotein B receptor (APOBR), mRNA.	1009					cholesterol metabolic process|lipid transport	chylomicron|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1)	29						GCCCTCTTTTCGTCGGACTCC	0.682000														5			5		0	0	0.000602	0	0
TNK2	10188	broad.mit.edu	37	3	195609174	195609174	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:195609174G>A	uc003fvu.1	-	5	1178	c.635C>T	c.(634-636)tCg>tTg	p.S212L	TNK2_uc003fvs.1_Missense_Mutation_p.S244L|TNK2_uc003fvt.1_Missense_Mutation_p.S275L|TNK2_uc010hzw.1_Non-coding_Transcript|TNK2_uc003fvv.1_Missense_Mutation_p.S42L|TNK2_uc010hzx.1_Missense_Mutation_p.S226L	NM_005781	NP_005772	Q07912	ACK1_HUMAN	Homo sapiens tyrosine kinase, non-receptor, 2 (TNK2), transcript variant 1, mRNA.	212	Protein kinase.				positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction	adherens junction|cytoplasmic vesicle membrane|endosome|nucleus	ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	GTCCAACAACGATCCCAGAGG	0.657000														27			9		0	0	0.008291	0	0
FBXW8	26259	broad.mit.edu	37	12	117465849	117465849	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:117465849C>T	uc001twg.1	+	10	1751	c.1669C>T	c.(1669-1671)Cgc>Tgc	p.R557C	FBXW8_uc001twf.1_Missense_Mutation_p.R491C|FBXW8_uc021rel.1_5'Flank	NM_153348	NP_699179	Q8N3Y1	FBXW8_HUMAN	Homo sapiens F-box and WD repeat domain containing 8 (FBXW8), transcript variant 1, mRNA.	557							protein binding	p.R557C(2)|p.R557H(1)		endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	22	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0353)		GGGGCTGATCCGCGCCTATGA	0.622000														22			8		0	0	0.004482	0	0
HM13	81502	broad.mit.edu	37	20	30126009	30126009	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr20:30126009C>T	uc002wwc.3	+	2	424	c.310C>T	c.(310-312)Ctg>Ttg	p.L104L	HM13_uc002wwd.3_Silent_p.L104L|HM13_uc002wwe.3_Silent_p.L104L|HM13_uc002wwb.1_Silent_p.L104L	NM_178581	NP_848696	Q8TCT9	HM13_HUMAN	Homo sapiens histocompatibility (minor) 13 (HM13), transcript variant 3, mRNA.	104					membrane protein proteolysis	cell surface|endoplasmic reticulum membrane|integral to membrane|plasma membrane	aspartic-type endopeptidase activity|protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	12	all_cancers(5;3.44e-05)|Lung NSC(7;4.38e-06)|all_lung(7;7.65e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		all cancers(5;0.000479)|Colorectal(19;0.00202)|COAD - Colon adenocarcinoma(19;0.0264)			CATCAACCTCCTGCTGTCCAT	0.507000														44			49		0	0	0.003610	0	0
OR1A1	8383	broad.mit.edu	37	17	3119115	3119115	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:3119115C>T	uc010vrc.2	+	0	201	c.201C>T	c.(199-201)tcC>tcT	p.S67S		NM_014565	NP_055380	Q9P1Q5	OR1A1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily A, member 1 (OR1A1), mRNA.	67					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	23						CCAACCTCTCCTTGGTTGACA	0.483000														153			37		0	0	0.002522	0	0
TUBB6	84617	broad.mit.edu	37	18	12325201	12325201	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr18:12325201C>T	uc002kqw.3	+	3	448	c.413C>T	c.(412-414)tCg>tTg	p.S138L	TUBB6_uc002kqv.3_Missense_Mutation_p.S66L|TUBB6_uc010dld.3_Non-coding_Transcript|TUBB6_uc002kqy.3_Intron	NM_032525	NP_115914	Q9BUF5	TBB6_HUMAN	Homo sapiens tubulin, beta 6 class V (TUBB6), mRNA.	138					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	p.S138S(2)		endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)	14				READ - Rectum adenocarcinoma(1;0.0649)		CTCACGCACTCGCTGGGCGGC	0.662000														32			14		0	0	0.002450	0	0
APOL3	80833	broad.mit.edu	37	22	36538010	36538010	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr22:36538010C>T	uc003aot.3	-	2	485	c.447G>A	c.(445-447)agG>agA	p.R149R	APOL3_uc003aoq.3_Silent_p.R78R|APOL3_uc003aor.3_Silent_p.R78R|APOL3_uc003aos.3_Silent_p.R78R|APOL3_uc003aou.3_5'UTR|APOL3_uc003aov.3_5'UTR|APOL3_uc021wol.1_5'Flank	NM_145640	NP_663617	O95236	APOL3_HUMAN	Homo sapiens apolipoprotein L, 3 (APOL3), transcript variant alpha/d, mRNA.	149					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						AAAACCATTCCCTAAACTGCT	0.453000														56			28		0	0	0.006320	0	0
CSMD1	64478	broad.mit.edu	37	8	2964161	2964161	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:2964161C>T	uc022aqr.1	-	45	7228	c.6838G>A	c.(6838-6840)Gat>Aat	p.D2280N	CSMD1_uc011kwj.2_Missense_Mutation_p.D1673N|CSMD1_uc010lrg.3_Missense_Mutation_p.D349N	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	2281	Sushi 13.					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)		TTCACAAAATCTCCTAGAAGA	0.468000														17			6		0	0	0.001168	0	0
COL7A1	1294	broad.mit.edu	37	3	48620846	48620846	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:48620846G>A	uc003ctz.2	-	40	4418	c.4417C>T	c.(4417-4419)Cct>Tct	p.P1473S		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	Homo sapiens collagen, type VII, alpha 1 (COL7A1), mRNA.	1473	Interrupted collagenous region.|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)		ATAGCTCCAGGAGGTCCCCGT	0.567000														7			11		0	0	0.002450	0	0
TUBGCP6	85378	broad.mit.edu	37	22	50658792	50658792	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr22:50658792G>A	uc003bkb.1	-	15	4508	c.3996C>T	c.(3994-3996)ccC>ccT	p.P1332P	TUBGCP6_uc003bka.1_Silent_p.P419P|TUBGCP6_uc010har.1_Silent_p.P1324P|TUBGCP6_uc010has.1_Non-coding_Transcript	NM_020461	NP_065194	Q96RT7	GCP6_HUMAN	Homo sapiens tubulin, gamma complex associated protein 6 (TUBGCP6), mRNA.	1332					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		AGCCCGAGCTGGGGGAGGACA	0.667000														23			8		0	0	0.004482	0	0
DSG3	1830	broad.mit.edu	37	18	29052254	29052254	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr18:29052254C>T	uc002kws.3	+	12	2014	c.1905C>T	c.(1903-1905)ccC>ccT	p.P635P	DSG3_uc002kwt.3_5'Flank	NM_001944	NP_001935	P32926	DSG3_HUMAN	Homo sapiens desmoglein 3 (DSG3), mRNA.	635					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)			TAGTGGCCCCCCTTCTGCTGT	0.403000														80			27		0	0	0.002836	0	0
SMTNL1	219537	broad.mit.edu	37	11	57313408	57313408	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:57313408G>A	uc021qjh.1	+	3	974	c.972G>A	c.(970-972)ggG>ggA	p.G324G		NM_001105565	NP_001099035	E9PPJ3	E9PPJ3_HUMAN	Homo sapiens smoothelin-like 1 (SMTNL1), mRNA.	324										endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	8						CTTCCTCAGGGGAGAAGAAGG	0.627000														13			5		0	0	0.001168	0	0
OR10G8	219869	broad.mit.edu	37	11	123900559	123900559	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:123900559C>T	uc001pzp.1	+	0	230	c.230C>T	c.(229-231)cCc>cTc	p.P77L		NM_001004464	NP_001004464	Q8NGN5	O10G8_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 8 (OR10G8), mRNA.	77					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		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;0.0521)		GTCACGGTGCCCAAATTGCTG	0.527000														55			22		0	0	0.001882	0	0
CAPN10	11132	broad.mit.edu	37	2	241537768	241537768	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:241537768G>A	uc002vzk.2	+	11	2140	c.1944_splice	c.e11-1	p.R648_splice	CAPN10_uc002vzp.2_Splice_Site|CAPN10_uc002vzm.2_Splice_Site_p.R114_splice|CAPN10_uc002vzl.2_Splice_Site_p.R493_splice|CAPN10_uc002vzn.2_Splice_Site_p.R520_splice|CAPN10_uc002vzo.2_Splice_Site|CAPN10_uc010fzg.2_Splice_Site|CAPN10_uc002vzq.2_Intron	NM_023083	NP_075571	Q9HC96	CAN10_HUMAN	Homo sapiens calpain 10 (CAPN10), transcript variant 1, mRNA.	648	Domain III 2.				actin cytoskeleton reorganization|cellular response to insulin stimulus|positive regulation of apoptosis|positive regulation of glucose import|positive regulation of insulin secretion|positive regulation of intracellular transport|proteolysis	cytosol|plasma membrane	SNARE binding|calcium-dependent cysteine-type endopeptidase activity|cytoskeletal protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|urinary_tract(1)	27		all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032)		TCTCTCCACAGGCCATCCATT	0.632000														33			8		0	0	0.008291	0	0
HMSD	284293	broad.mit.edu	37	18	61620733	61620733	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr18:61620733A>G	uc010dqj.3	+	1	193	c.44A>G	c.(43-45)aAg>aGg	p.K15R		NM_001123366	NP_001116838	A8MTL9	HMSD_HUMAN	Homo sapiens histocompatibility (minor) serpin domain containing (HMSD), mRNA.	15						extracellular region	serine-type endopeptidase inhibitor activity			kidney(1)|large_intestine(2)|lung(2)|stomach(1)	6						ATGGGGGCAAAGGGAAACACT	0.403000														21			13		0	0	0.003163	0	0
FUT1	2523	broad.mit.edu	37	19	49253551	49253551	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:49253551G>A	uc002pkk.3	-	3	1963	c.988C>T	c.(988-990)Ctg>Ttg	p.L330L	FUT1_uc021uwy.1_Silent_p.L330L	NM_000148	NP_000139	P19526	FUT1_HUMAN	Homo sapiens fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase, H blood group) (FUT1), mRNA.	330					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to plasma membrane|membrane fraction	galactoside 2-alpha-L-fucosyltransferase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(3)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	17		all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000135)|all cancers(93;0.000354)|Epithelial(262;0.0191)|GBM - Glioblastoma multiforme(486;0.0222)		GAGTCTGGCAGGGTGAAGTTG	0.572000														21			15		0	0	0.003163	0	0
MYH2	4620	broad.mit.edu	37	17	10433055	10433055	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:10433055C>T	uc010coi.3	-	23	3071	c.2943G>A	c.(2941-2943)gtG>gtA	p.V981V	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Silent_p.V981V|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.	981					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						TGAGGTTTTTCACCTACAAAG	0.458000														103			62		0	0	0.003610	0	0
KIAA1244	57221	broad.mit.edu	37	6	138584555	138584555	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:138584555G>A	uc003qhu.3	+	11	2106	c.1935G>A	c.(1933-1935)cgG>cgA	p.R645R		NM_020340	NP_065073	Q5TH69	BIG3_HUMAN	Homo sapiens KIAA1244 (KIAA1244), mRNA.	645	SEC7.				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		AGACACCCCGGGACTGCCTAG	0.577000														44			29		0	0	0.008361	0	0
SPATA19	219938	broad.mit.edu	37	11	133714505	133714505	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:133714505C>T	uc001qgv.1	-	2	217	c.166G>A	c.(166-168)Gaa>Aaa	p.E56K		NM_174927	NP_777587	Q7Z5L4	SPT19_HUMAN	Homo sapiens spermatogenesis associated 19 (SPATA19), mRNA.	56					cell differentiation|multicellular organismal development|spermatogenesis	mitochondrial outer membrane				cervix(1)|endometrium(2)|large_intestine(2)|lung(5)|prostate(1)	11	all_hematologic(175;0.127)	all_cancers(12;5.59e-17)|all_epithelial(12;2.65e-12)|all_lung(97;0.00045)|Lung NSC(97;0.000861)|Breast(109;0.000873)|Medulloblastoma(222;0.0425)|Esophageal squamous(93;0.0844)|all_neural(223;0.117)		Epithelial(10;4.36e-10)|all cancers(11;7.1e-09)|BRCA - Breast invasive adenocarcinoma(10;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00286)|Lung(977;0.207)		GACAGCTTTTCCTTTATGCCC	0.522000														49			16		0	0	0.004990	0	0
PREX2	80243	broad.mit.edu	37	8	68956771	68956771	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:68956771C>T	uc003xxv.1	+	7	916	c.889C>T	c.(889-891)Cgt>Tgt	p.R297C	PREX2_uc003xxu.1_Missense_Mutation_p.R297C|PREX2_uc011lez.1_Missense_Mutation_p.R232C	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA.	297	PH.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity|protein binding	p.R297H(1)		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						GTACCTTTTTCGTGGCCGGAT	0.398000														88			41		0	0	0.003610	0	0
LMBRD2	92255	broad.mit.edu	37	5	36116632	36116632	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:36116632G>A	uc003jkb.1	-	10	1781	c.1366C>T	c.(1366-1368)Cgt>Tgt	p.R456C		NM_001007527	NP_001007528	Q68DH5	LMBD2_HUMAN	Homo sapiens LMBR1 domain containing 2 (LMBRD2), mRNA.	456						integral to membrane				breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(31;0.000146)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TTAAATACACGAATCCTGAAC	0.348000														72			27		0	0	0.003954	0	0
HLA-DOA	3111	broad.mit.edu	37	6	32975332	32975332	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:32975332C>T	uc003ocr.3	-	2	445	c.369G>A	c.(367-369)gtG>gtA	p.V123V	HLA-DOA_uc010juj.3_Silent_p.V93V|HLA-DOA_uc010jui.3_Silent_p.V123V	NM_002119	NP_002110	P06340	DOA_HUMAN	Homo sapiens major histocompatibility complex, class II, DO alpha (HLA-DOA), mRNA.	123	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	MHC class II protein complex|endosome membrane|integral to membrane|lysosomal membrane	MHC class II receptor activity			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)	9						GGCCCAGCTCCACCCGAGACT	0.607000														68			17		0	0	0.004990	0	0
SORL1	6653	broad.mit.edu	37	11	121448082	121448082	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:121448082G>A	uc001pxx.3	+	24	3682	c.3553G>A	c.(3553-3555)Gac>Aac	p.D1185N	SORL1_uc010rzp.1_Missense_Mutation_p.D31N	NM_003105	NP_003096	Q92673	SORL_HUMAN	Homo sapiens sortilin-related receptor, L(DLR class) A repeats containing (SORL1), mRNA.	1185	LDL-receptor class A 3.				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		CGACTGCAGGGACTGGTCTGA	0.522000														49			41		0	0	0.008740	0	0
PGK2	5232	broad.mit.edu	37	6	49754671	49754671	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:49754671G>A	uc003ozu.3	-	0	383	c.230C>T	c.(229-231)tCc>tTc	p.S77F		NM_138733	NP_620061	P07205	PGK2_HUMAN	Homo sapiens phosphoglycerate kinase 2 (PGK2), mRNA.	77					glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					AGGTGCTAAGGAATATTTGTC	0.502000														51			31		0	0	0.002445	0	0
ZFHX4	79776	broad.mit.edu	37	8	77767085	77767085	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:77767085G>A	uc003yau.2	+	9	8315	c.7928G>A	c.(7927-7929)gGg>gAg	p.G2643E	ZFHX4_uc003yaw.1_Missense_Mutation_p.G2598E	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	2598						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R2643R(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CGCGAAGTCGGGCTGAAAAAA	0.512000										HNSCC(33;0.089)				40			18		0	0	0.007413	0	0
SH3D21	79729	broad.mit.edu	37	1	36786171	36786171	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:36786171C>T	uc010oia.1	+	13	1935	c.1907C>T	c.(1906-1908)cCt>cTt	p.P636L	SH3D21_uc010oib.1_Missense_Mutation_p.P525L|SH3D21_uc010oic.1_Non-coding_Transcript|SH3D21_uc009vuz.1_Missense_Mutation_p.P282L	NM_001162530	NP_078952	A4FU49	SH321_HUMAN	Homo sapiens SH3 domain containing 21 (SH3D21), transcript variant 1, mRNA.	520										endometrium(1)|large_intestine(6)|lung(4)|pancreas(1)	12						GAATTGCCCCCTAAAGAGGAA	0.577000														32			15		0	0	0.003163	0	0
ATM	472	broad.mit.edu	37	11	108236211	108236211	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:108236211C>T	uc001pkb.1	+	62	9532	c.9147C>T	c.(9145-9147)ttC>ttT	p.F3049F	ATM_uc009yxr.1_Silent_p.F3049F|C11orf65_uc010rvx.1_Intron|C11orf65_uc009yxu.2_Intron|ATM_uc001pke.2_Silent_p.F1701F	NM_000051	NP_000042	Q13315	ATM_HUMAN	Homo sapiens ataxia telangiectasia mutated (ATM), mRNA.	3049	FATC.				DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2/M transition DNA damage checkpoint|cell cycle arrest|cellular response to gamma radiation|double-strand break repair via homologous recombination|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein N-terminus binding|protein complex binding|protein dimerization activity			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		GCCGACTTTTCCCAGGATGGA	0.413000			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)				24			15		0	0	0.004007	0	0
FLG2	388698	broad.mit.edu	37	1	152326459	152326459	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:152326459C>T	uc001ezw.4	-	2	3876	c.3803G>A	c.(3802-3804)cGa>cAa	p.R1268Q	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	1268	Ser-rich.						calcium ion binding|structural molecule activity	p.R1268*(1)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTAGATCTTCGTCTTCTAGT	0.458000														109			56		0	0	0.003610	0	0
BCL6B	255877	broad.mit.edu	37	17	6930106	6930107	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:6930106_6930107GG>AA	uc010clt.1	+	6	1199_1200	c.1137_1138GG>AA	c.(1135-1140)tcggga>tcAAga	p.G380R	BCL6B_uc002geg.2_Missense_Mutation_p.G380R	NM_181844	NP_862827	Q8N143	BCL6B_HUMAN	Homo sapiens B-cell CLL/lymphoma 6, member B (BCL6B), mRNA.	380						nucleus	zinc ion binding			skin(1)	1						GCATCCATTCGGGAGAGAAGCC	0.569000														24			14		0	0	0.004672	0	0
CLSTN2	64084	broad.mit.edu	37	3	140167509	140167509	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:140167509G>A	uc003etn.3	+	5	1126	c.936G>A	c.(934-936)cgG>cgA	p.R312R	CLSTN2_uc003etm.2_Silent_p.R312R	NM_022131	NP_071414	Q9H4D0	CSTN2_HUMAN	Homo sapiens calsyntenin 2 (CLSTN2), mRNA.	312					homophilic cell adhesion	Golgi membrane|endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						GTTGTGACCGGGAGACCTACT	0.443000										HNSCC(16;0.037)				99			41		0	0	0.002522	0	0
ASB4	51666	broad.mit.edu	37	7	95157127	95157127	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:95157127G>A	uc011kij.2	+	2	561	c.490G>A	c.(490-492)Gcg>Acg	p.A164T	ASB4_uc003unx.3_Missense_Mutation_p.A164T	NM_016116	NP_057200	Q9Y574	ASB4_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 4 (ASB4), transcript variant 1, mRNA.	164					intracellular signal transduction					central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|pancreas(1)|prostate(1)|skin(2)	20	all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246)		STAD - Stomach adenocarcinoma(171;0.0151)			CTTTATAGGGGCGAATGTGAA	0.438000											OREG0018172	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		24			7		0	0	0.003080	0	0
DPPA3	359787	broad.mit.edu	37	12	7867807	7867807	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:7867807G>A	uc001qtf.3	+	1	189	c.111G>A	c.(109-111)ttG>ttA	p.L37L		NM_199286	NP_954980	Q6W0C5	DPPA3_HUMAN	Homo sapiens developmental pluripotency associated 3 (DPPA3), mRNA.	37						cytoplasm|nucleus				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2)	8				Kidney(36;0.0887)		CCGAGACGTTGATAAAGAACC	0.458000														75			51		0	0	0.003610	0	0
POLR3B	55703	broad.mit.edu	37	12	106772061	106772061	+	Silent	SNP	T	G	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:106772061T>G	uc001tlp.3	+	7	735	c.513T>G	c.(511-513)gtT>gtG	p.V171V	POLR3B_uc001tlq.3_Silent_p.V113V	NM_018082	NP_001154180	Q9NW08	RPC2_HUMAN	Homo sapiens polymerase (RNA) III (DNA directed) polypeptide B (POLR3B), transcript variant 1, mRNA.	171					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						ACTTCATTGTTAAAGGAGTAG	0.398000														70			34		0	0	0.002445	0	0
TCRBV14S1	0	broad.mit.edu	37	7	142423519	142423519	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:142423519G>A	uc010lol.1	+	1	208	c.175G>A	c.(175-177)Ggg>Agg	p.G59R	TRBV5-1_uc011krr.1_Intron|TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TRBV23-1_uc022ans.1_Intron|TCRBV14S1_uc011ksj.1_Non-coding_Transcript|TCRBV14S1_uc022ant.1_5'Flank					SubName: Full=V_segment translation product; Flags: Fragment;																		ACAAGACCCAGGGCTGGGCTT	0.438000														30			13		0	0	0.004990	0	0
ANKK1	255239	broad.mit.edu	37	11	113266842	113266842	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:113266842C>A	uc001pny.3	+	4	830	c.736C>A	c.(736-738)Cta>Ata	p.L246I		NM_178510	NP_848605	Q8NFD2	ANKK1_HUMAN	Homo sapiens ankyrin repeat and kinase domain containing 1 (ANKK1), mRNA.	246	Protein kinase.						ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|stomach(1)	29		all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194)		BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238)		GCGGCCCTCCCTACAGCCTGT	0.582000														57			19		1.01871e-10	1.23399e-10	0.008871	1	0
LAMP1	3916	broad.mit.edu	37	13	113975755	113975755	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr13:113975755C>T	uc001vtm.1	+	6	1194	c.913C>T	c.(913-915)Cag>Tag	p.Q305*	LAMP1_uc010tka.1_Nonsense_Mutation_p.Q252*	NM_005561	NP_005552	P11279	LAMP1_HUMAN	Homo sapiens lysosomal-associated membrane protein 1 (LAMP1), mRNA.	305	Second lumenal domain.					endosome membrane|integral to plasma membrane|lysosomal membrane|membrane fraction				NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(2)|prostate(1)|skin(1)|stomach(2)	16	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.025)|GBM - Glioblastoma multiforme(44;0.206)|Epithelial(84;0.246)			ACAAGGAATCCAGTTGAATAC	0.488000														60			20		0	0	0.002299	0	0
NHS	4810	broad.mit.edu	37	X	17744107	17744107	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chrX:17744107C>T	uc011mix.2	+	6	2219	c.1881C>T	c.(1879-1881)caC>caT	p.H627H	NHS_uc004cxx.3_Silent_p.H606H|NHS_uc004cxy.3_Silent_p.H450H|NHS_uc004cxz.3_Silent_p.H429H|NHS_uc004cya.3_Silent_p.H329H	NM_001136024	NP_001129496	Q6T4R5	NHS_HUMAN	Homo sapiens Nance-Horan syndrome (congenital cataracts and dental anomalies) (NHS), transcript variant 2, mRNA.	606						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)					AAGATGACCACCAGTCATCCA	0.587000														14			26		0	0	0.003330	0	0
MAGI1	9223	broad.mit.edu	37	3	65376990	65376990	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:65376990C>T	uc003dmn.3	-	13	2769	c.2243G>A	c.(2242-2244)aGt>aAt	p.S748N	MAGI1_uc003dmm.3_Missense_Mutation_p.S748N|MAGI1_uc003dmo.3_Missense_Mutation_p.S748N|MAGI1_uc003dmp.3_Missense_Mutation_p.S748N|MAGI1_uc010hnx.1_Missense_Mutation_p.S31N	NM_001033057	NP_001028229	Q96QZ7	MAGI1_HUMAN	Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 1 (MAGI1), transcript variant 3, mRNA.	748					cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		GCTGGAAACACTGTGCTGAGA	0.507000														34			13		0	0	0.002450	0	0
ENAM	10117	broad.mit.edu	37	4	71508967	71508967	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:71508967C>T	uc011caw.1	+	8	2105	c.1824C>T	c.(1822-1824)ccC>ccT	p.P608P		NM_031889	NP_114095	Q9NRM1	ENAM_HUMAN	Homo sapiens enamelin (ENAM), mRNA.	608					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			CATATGATCCCAGGGAAAACT	0.428000														118			31		0	0	0.002836	0	0
STX11	8676	broad.mit.edu	37	6	144507918	144507918	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:144507918C>T	uc003qks.4	+	1	346	c.154C>T	c.(154-156)Cag>Tag	p.Q52*	STX11_uc021zgk.1_Nonsense_Mutation_p.Q52*	NM_003764	NP_003755	O75558	STX11_HUMAN	Homo sapiens syntaxin 11 (STX11), mRNA.	52					cellular membrane fusion|intracellular protein transport|vesicle-mediated transport	Golgi apparatus|membrane	SNAP receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	12				OV - Ovarian serous cystadenocarcinoma(155;2.17e-06)|GBM - Glioblastoma multiforme(68;0.0492)		CCGGGACATTCAGGATGAAAA	0.612000									Familial Hemophagocytic Lymphohistiocytosis					15			5		0	0	0.000602	0	0
LRRC42	115353	broad.mit.edu	37	1	54417990	54417991	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:54417990_54417991CC>TT	uc001cwj.1	+	1	518_519	c.318_319CC>TT	c.(316-321)tccctt>tcTTtt	p.L107F	LRRC42_uc001cwk.1_Missense_Mutation_p.L107F	NM_052940	NP_443172	Q9Y546	LRC42_HUMAN	Homo sapiens leucine rich repeat containing 42 (LRRC42), transcript variant 2, mRNA.	107										breast(2)|kidney(1)|large_intestine(1)|lung(5)	9						ACATTGATTCCCTTATTGGCTT	0.500000														67			18		0	0	0.004672	0	0
WASF3	10810	broad.mit.edu	37	13	27255399	27255399	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr13:27255399C>T	uc001uqv.3	+	7	1150	c.925C>T	c.(925-927)Ccc>Tcc	p.P309S	WASF3_uc001uqw.3_Missense_Mutation_p.P306S	NM_006646	NP_006637	Q9UPY6	WASF3_HUMAN	Homo sapiens WAS protein family, member 3 (WASF3), mRNA.	309	Poly-Pro.				actin filament polymerization	cytoplasm|cytoskeleton	actin binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)		CCCCCCGCCTCCCCCTCAGGC	0.682000														38			18		0	0	0.001523	0	0
C19orf44	84167	broad.mit.edu	37	19	16612055	16612055	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:16612055C>T	uc002neh.1	+	1	525	c.452C>T	c.(451-453)tCc>tTc	p.S151F	MED26_uc002nee.2_Intron|C19orf44_uc002nef.1_Missense_Mutation_p.S151F|C19orf44_uc002neg.3_Missense_Mutation_p.S151F|C19orf44_uc010eai.1_Non-coding_Transcript	NM_032207	NP_115583	Q9H6X5	CS044_HUMAN	Homo sapiens chromosome 19 open reading frame 44 (C19orf44), mRNA.	151										endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	16						GACAAAACTTCCCAGAATCAA	0.483000														56			27		0	0	0.005443	0	0
PGA5	5222	broad.mit.edu	37	11	61018705	61018705	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:61018705C>T	uc001nqz.3	+	8	1174	c.1119C>T	c.(1117-1119)acC>acT	p.T373T		NM_014224	NP_055039	P00790	PEPA_HUMAN	Homo sapiens pepsinogen 5, group I (pepsinogen A) (PGA5), mRNA.	373					digestion|proteolysis	extracellular region	aspartic-type endopeptidase activity			large_intestine(1)|skin(1)	2						AGTACTTTACCGTCTTCGACA	0.587000														101			57		0	0	0.003610	0	0
PSG8	440533	broad.mit.edu	37	19	43259144	43259144	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:43259144G>A	uc002ouo.2	-	3	1082	c.984C>T	c.(982-984)gtC>gtT	p.V328V	PSG3_uc002ouf.3_Intron|PSG3_uc002oug.1_Intron|PSG8_uc010eim.3_Intron|PSG8_uc002ouh.3_Silent_p.V328V|PSG8_uc010ein.3_Silent_p.V206V|PSG3_uc002oun.3_Intron	NM_182707	NP_874366	Q9UQ74	PSG8_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 8 (PSG8), transcript variant 1, mRNA.	328						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)				ACTCACAGAGGACATTCAGGG	0.483000														40			19		0	0	0.002780	0	0
NAV2	89797	broad.mit.edu	37	11	19735246	19735246	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:19735246C>T	uc010rdm.2	+	0	366	c.5C>T	c.(4-6)cCg>cTg	p.P2L	NAV2_uc001mpp.3_Intron|NAV2_uc001mpr.4_Missense_Mutation_p.P2L|NAV2_uc021qew.1_Missense_Mutation_p.P2L|LOC100126784_uc010rdl.2_3'UTR	NM_001244963	NP_001231892	Q8IVL1	NAV2_HUMAN	Homo sapiens neuron navigator 2 (NAV2), transcript variant 5, mRNA.	2						nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						GAGAAGATGCCGGCCATCCTG	0.736000														13			6		0	0	0.001984	0	0
ADAM7	8756	broad.mit.edu	37	8	24324313	24324313	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:24324313G>A	uc003xeb.3	+	6	503	c.390_splice	c.e6-1	p.R130_splice	ADAM7_uc003xea.1_Splice_Site_p.R130_splice	NM_003817	NP_003808	Q9H2U9	ADAM7_HUMAN	Homo sapiens ADAM metallopeptidase domain 7 (ADAM7), mRNA.	130					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)		TTTCTACAGGGGATTCTTCAG	0.378000														43			16		0	0	0.006122	0	0
CNOT1	23019	broad.mit.edu	37	16	58580365	58580365	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:58580365T>C	uc002env.3	-	28	4159	c.3866A>G	c.(3865-3867)aAc>aGc	p.N1289S	CNOT1_uc002enw.3_Non-coding_Transcript|CNOT1_uc002enu.4_Missense_Mutation_p.N1284S|CNOT1_uc002enx.3_Missense_Mutation_p.N1289S|CNOT1_uc010vik.2_Missense_Mutation_p.N246S	NM_016284	NP_057368	A5YKK6	CNOT1_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 1 (CNOT1), transcript variant 1, mRNA.	1289					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		TAATGCAAGGTTCTTGCAGAG	0.348000														48			23		0	0	0.003330	0	0
SLC27A6	28965	broad.mit.edu	37	5	128320902	128320902	+	Silent	SNP	T	G	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:128320902T>G	uc003kuy.3	+	2	954	c.558T>G	c.(556-558)gtT>gtG	p.V186V	SLC27A6_uc003kuz.3_Silent_p.V186V	NM_014031	NP_054750	Q9Y2P4	S27A6_HUMAN	Homo sapiens solute carrier family 27 (fatty acid transporter), member 6 (SLC27A6), transcript variant 1, mRNA.	186					long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		AAGATTCTGTTCCACAAGGTG	0.458000														33			13		0	0	0.001855	0	0
MYH4	4622	broad.mit.edu	37	17	10348625	10348625	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:10348625G>A	uc002gmn.3	-	35	5335	c.5224C>T	c.(5224-5226)Cag>Tag	p.Q1742*	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	1742					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						ATCTCTCCCTGGATTTGGGAA	0.443000														85			38		0	0	0.006230	0	0
MCC	4163	broad.mit.edu	37	5	112389430	112389430	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:112389430C>T	uc003kql.4	-	14	2856	c.2440G>A	c.(2440-2442)Gcc>Acc	p.A814T	MCC_uc003kqj.4_Missense_Mutation_p.A624T|MCC_uc003kqk.4_Non-coding_Transcript|MCC_uc011cwb.1_Missense_Mutation_p.A624T	NM_001085377	NP_001078846	P23508	CRCM_HUMAN	Homo sapiens mutated in colorectal cancers (MCC), transcript variant 1, mRNA.	624					Wnt receptor signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity			endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		ACCTTCATGGCCATGAGCTCC	0.537000														30			8		0	0	0.003080	0	0
NEB	4703	broad.mit.edu	37	2	152376255	152376255	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:152376255C>T	uc021vrb.1	-	124	17433	c.17404G>A	c.(17404-17406)Gaa>Aaa	p.E5802K	NEB_uc002txr.3_Missense_Mutation_p.E2268K|NEB_uc002txu.3_Missense_Mutation_p.E7503K|NEB_uc021vrc.1_Missense_Mutation_p.E7503K|NEB_uc010fnx.3_Missense_Mutation_p.E5790K|NEB_uc021vrd.1_Missense_Mutation_p.E5802K|NEB_uc002txt.4_Missense_Mutation_p.E307K	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	5802					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			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)		TTGCCCTTTTCTTTATCGAAA	0.348000														83			22		0	0	0.003330	0	0
FAM181A	90050	broad.mit.edu	37	14	94391701	94391701	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:94391701G>A	uc001ybz.2	+	1	409	c.84G>A	c.(82-84)gcG>gcA	p.A28A	FAM181A-AS1_uc001yby.2_Intron|FAM181A_uc021say.1_Intron|FAM181A_uc021saz.1_5'Flank|FAM181A_uc010aus.2_5'Flank|FAM181A_uc001yca.2_5'Flank	NM_138344	NP_001194003	Q8N9Y4	F181A_HUMAN	Homo sapiens family with sequence similarity 181, member A (FAM181A), transcript variant 1, mRNA.	28			A -> T (in dbSNP:rs10141024).					p.A28V(1)		cervix(1)|endometrium(2)|large_intestine(8)|lung(4)|prostate(1)|skin(2)	18						AGAAAAGGGCGAGCACAGCAA	0.532000														22			10		0	0	0.000978	0	0
HSP90AA1	3320	broad.mit.edu	37	14	102552569	102552569	+	Silent	SNP	A	T	T	rs143957536		TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:102552569A>T	uc001yku.4	-	1	337	c.147T>A	c.(145-147)atT>atA	p.I49I	HSP90AA1_uc001ykv.4_Silent_p.I171I|HSP90AA1_uc001ykw.1_5'UTR|HSP90AA1_uc001ykx.1_Silent_p.I38I	NM_005348	NP_005339	P07900	HS90A_HUMAN	Homo sapiens heat shock protein 90kDa alpha (cytosolic), class A member 1 (HSP90AA1), transcript variant 2, mRNA.	49					G2/M transition of mitotic cell cycle|axon guidance|cellular chaperone-mediated protein complex assembly|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction	cytosol|melanosome|plasma membrane	ATP binding|ATPase activity|TPR domain binding|nitric-oxide synthase regulator activity|protein homodimerization activity|unfolded protein binding	p.P48S(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1)	28					Rifabutin(DB00615)	ATGAATTTGAAATGAGCTCTC	0.378000														38			12		0	0	0.001368	0	0
OR9A2	135924	broad.mit.edu	37	7	142724186	142724186	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:142724186G>A	uc003wcc.1	-	0	34	c.34C>T	c.(34-36)Cac>Tac	p.H12Y		NM_001001658	NP_001001658	Q8NGT5	OR9A2_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily A, member 2 (OR9A2), mRNA.	12					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(3)|endometrium(4)|large_intestine(1)|lung(14)|skin(3)	25	Melanoma(164;0.059)					CCTAGAAGGTGGAATTCAGTG	0.423000														23			15		0	0	0.004990	0	0
DOCK1	1793	broad.mit.edu	37	10	128807059	128807059	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:128807059C>T	uc010qun.2	+	10	1113	c.1049C>T	c.(1048-1050)cCc>cTc	p.P350L	DOCK1_uc001ljt.3_Missense_Mutation_p.P350L	NM_001380	NP_001371	Q14185	DOCK1_HUMAN	Homo sapiens dedicator of cytokinesis 1 (DOCK1), mRNA.	350					apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		CATTTCATTCCCTTTCAGCCG	0.318000														14			4		0	0	0.000248	0	0
ACACA	31	broad.mit.edu	37	17	35557126	35557126	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:35557126C>T	uc002hnm.3	-	35	4194	c.4003_splice	c.e35-1	p.D1335_splice	ACACA_uc002hnk.3_Splice_Site_p.D1257_splice|ACACA_uc002hnl.3_Splice_Site_p.D1277_splice|ACACA_uc002hnn.3_Splice_Site_p.D1335_splice|ACACA_uc002hno.3_Splice_Site_p.D1372_splice|ACACA_uc010cuy.3_Splice_Site_p.D29_splice	NM_198836	NP_942135	Q13085	ACACA_HUMAN	Homo sapiens acetyl-CoA carboxylase alpha (ACACA), transcript variant 3, mRNA.	1335					acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	ATP binding|acetyl-CoA carboxylase activity|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	TTTCTGAAATCCTTTCAAATA	0.318000														49			26		0	0	0.005443	0	0
ADAMTS14	140766	broad.mit.edu	37	10	72517946	72517946	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:72517946C>T	uc001jrg.3	+	20	3092	c.3092C>T	c.(3091-3093)tCc>tTc	p.S1031F	ADAMTS14_uc001jrh.3_Missense_Mutation_p.S1028F	NM_139155	NP_631894	Q8WXS8	ATS14_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 14 (ADAMTS14), transcript variant 1, mRNA.	1028					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						CACCAGAACTCCACGGTGAGG	0.542000														20			14		0	0	0.006122	0	0
ETV5	2119	broad.mit.edu	37	3	185823275	185823275	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:185823275C>T	uc003fpy.3	-	3	335	c.270G>A	c.(268-270)caG>caA	p.Q90Q	ETV5_uc003fpz.3_Silent_p.Q48Q	NM_004454	NP_004445	P41161	ETV5_HUMAN	Homo sapiens ets variant 5 (ETV5), mRNA.	48					cellular response to oxidative stress	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(2)|cervix(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	28	all_cancers(143;4.06e-12)|Ovarian(172;0.0386)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.62e-24)			GACTGAGATCCTGAAATAGCT	0.388000			T	"""TMPRSS2, SCL45A3"""	Prostate									57			29		0	0	0.002836	0	0
CLMN	79789	broad.mit.edu	37	14	95670239	95670239	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:95670239C>T	uc001yef.2	-	8	1563	c.1447G>A	c.(1447-1449)Gaa>Aaa	p.E483K		NM_024734	NP_079010	Q96JQ2	CLMN_HUMAN	Homo sapiens calmin (calponin-like, transmembrane) (CLMN), mRNA.	483						integral to membrane	actin binding			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44				Epithelial(152;0.193)		GAGGAGGATTCTGGAATCTTC	0.463000														27			13		0	0	0.002450	0	0
GCAT	23464	broad.mit.edu	37	22	38212609	38212609	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr22:38212609C>T	uc003aua.2	+	8	1285	c.1222C>T	c.(1222-1224)Ccc>Tcc	p.P408S	GCAT_uc003atz.3_Missense_Mutation_p.P382S	NM_001171690	NP_001165161	O75600	KBL_HUMAN	Homo sapiens glycine C-acetyltransferase (GCAT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	382					biosynthetic process|cellular amino acid metabolic process		glycine C-acetyltransferase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	12	Melanoma(58;0.045)				Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	CCCCGTGGTCCCCAAGGGCAA	0.607000														46			16		0	0	0.004007	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140307291	140307291	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:140307291C>T	uc003lih.2	+	0	990	c.814C>T	c.(814-816)Cta>Tta	p.L272L	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lif.2_Intron|PCDHAC2_uc003lie.1_Intron|PCDHAC2_uc003lig.1_Silent_p.L272L	NM_018898	NP_061721	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha subfamily C, 1 (PCDHAC1), transcript variant 1, mRNA.	296	Cadherin 3.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCAGTACTCCCTAAGCAACAG	0.552000														19			6		0	0	0.003080	0	0
INHBC	3626	broad.mit.edu	37	12	57843232	57843232	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:57843232C>T	uc001snv.1	+	1	613	c.486C>T	c.(484-486)ctC>ctT	p.L162L		NM_005538	NP_005529	P55103	INHBC_HUMAN	Homo sapiens inhibin, beta C (INHBC), mRNA.	162					growth	extracellular region	growth factor activity|hormone activity|transforming growth factor beta receptor binding			breast(2)|endometrium(1)|large_intestine(6)|liver(2)|lung(4)|prostate(1)	16						ATACCAACCTCACCTTGGCTA	0.562000														89			42		0	0	0.003214	0	0
BARX2	8538	broad.mit.edu	37	11	129312769	129312769	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:129312769G>T	uc001qfc.4	+	2	578	c.528G>T	c.(526-528)caG>caT	p.Q176H		NM_003658	NP_003649	Q9UMQ3	BARX2_HUMAN	Homo sapiens BARX homeobox 2 (BARX2), mRNA.	176										breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	20	all_hematologic(175;0.0749)	Lung NSC(97;0.000383)|all_lung(97;0.000824)|Breast(109;0.000962)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.00929)|Lung(977;0.0245)|LUSC - Lung squamous cell carcinoma(976;0.0253)		CTCAGCTGCAGGTGAAGACCT	0.488000														97			43		2.55665e-31	3.11654e-31	0.003610	1	0
SPTA1	6708	broad.mit.edu	37	1	158612323	158612323	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:158612323G>A	uc001fst.1	-	32	4814	c.4615C>T	c.(4615-4617)Ctg>Ttg	p.L1539L		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	1539					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)					TGGTGTTTCAGGTATTTCCTC	0.398000														45			26		0	0	0.007291	0	0
DCC	1630	broad.mit.edu	37	18	50985684	50985684	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr18:50985684G>A	uc002lfe.2	+	23	4091	c.3475G>A	c.(3475-3477)Gaa>Aaa	p.E1159K	DCC_uc010dpf.2_Missense_Mutation_p.E794K	NM_005215	NP_005206	P43146	DCC_HUMAN	Homo sapiens deleted in colorectal carcinoma (DCC), mRNA.	1159					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)		CCATCATGAAGAAATGGAGAT	0.512000														59			35		0	0	0.002836	0	0
RARG	5916	broad.mit.edu	37	12	53621185	53621185	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:53621185G>A	uc001scf.3	-	2	637	c.145C>T	c.(145-147)Ctg>Ttg	p.L49L	RARG_uc001scg.3_Intron|RARG_uc010soc.2_Intron|RARG_uc001sce.3_Silent_p.L49L	NM_000966	NP_001230660	P13631	RARG_HUMAN	Homo sapiens retinoic acid receptor, gamma (RARG), transcript variant 1, mRNA.	49	Modulating.				canonical Wnt receptor signaling pathway|embryonic eye morphogenesis|embryonic hindlimb morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|regulation of cell size|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid	integral to membrane|transcription factor complex	retinoic acid receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)	GGCTGGCCCAGGCCCCGGAAG	0.612000														48			19		0	0	0.002780	0	0
PCDP1	200373	broad.mit.edu	37	2	120404598	120404598	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:120404598G>A	uc002tmb.3	+	22	2544	c.1432G>A	c.(1432-1434)Gaa>Aaa	p.E478K		NM_001029996	NP_001025167	Q4G0U5	PCDP1_HUMAN	Homo sapiens primary ciliary dyskinesia protein 1 (PCDP1), mRNA.	764						cilium	calmodulin binding					Colorectal(110;0.196)					TGCCTTACCAGAAGAGGACAG	0.408000														78			34		0	0	0.004289	0	0
ZNF385B	151126	broad.mit.edu	37	2	180348096	180348096	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:180348096C>T	uc002unn.4	-	5	1177	c.573G>A	c.(571-573)acG>acA	p.T191T	ZNF385B_uc002unj.3_Silent_p.T89T|ZNF385B_uc002unl.3_Silent_p.T88T|ZNF385B_uc002unk.3_Non-coding_Transcript|ZNF385B_uc002unm.3_Silent_p.T115T	NM_152520	NP_001106869	Q569K4	Z385B_HUMAN	Homo sapiens zinc finger protein 385B (ZNF385B), transcript variant 1, mRNA.	191						nucleus	nucleic acid binding|zinc ion binding	p.T191T(2)|p.T191M(1)		breast(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	26			Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201)			GTTTATTTTTCGTTGCGTCTA	0.468000														53			16		0	0	0.007413	0	0
AGAP7	653268	broad.mit.edu	37	10	51465504	51465504	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:51465504G>A	uc001jio.3	-	6	1078	c.952C>T	c.(952-954)Cca>Tca	p.P318S	PARG_uc001jih.3_Intron|TIMM23_uc010qha.2_Intron|TIMM23_uc001jin.3_Intron|TIMM23_uc010qhb.2_Intron|TIMM23_uc010qhc.2_Intron	NM_001077685	NP_001071153	Q5VUJ5	AGAP7_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 7 (AGAP7), mRNA.	318	PH.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	11						CACTTTCCTGGGACTTTGATG	0.468000														110			40		0	0	0.003610	0	0
ONECUT2	9480	broad.mit.edu	37	18	55143862	55143862	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr18:55143862C>T	uc002lgo.3	+	1	1454	c.1422C>T	c.(1420-1422)ttC>ttT	p.F474F		NM_004852	NP_004843	O95948	ONEC2_HUMAN	Homo sapiens one cut homeobox 2 (ONECUT2), mRNA.	474					organ morphogenesis	nucleus	sequence-specific DNA binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(4)|ovary(2)|skin(1)	15		Colorectal(73;0.234)		READ - Rectum adenocarcinoma(59;0.227)|Colorectal(16;0.245)		GCAACTTCTTCATGAACGCCC	0.577000														38			21		0	0	0.001523	0	0
ODC1	4953	broad.mit.edu	37	2	10583694	10583694	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:10583694G>A	uc010exg.1	-	6	1022	c.588C>T	c.(586-588)ttC>ttT	p.F196F	ODC1_uc002rao.1_Silent_p.F196F|ODC1_uc010yjd.1_Silent_p.F66F	NM_002539	NP_002530	P11926	DCOR_HUMAN	Homo sapiens ornithine decarboxylase 1 (ODC1), mRNA.	196					polyamine biosynthetic process|regulation of cellular amino acid metabolic process|response to virus	cytosol	ornithine decarboxylase activity|protein binding			NS(1)|central_nervous_system(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(3)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.161)	Pyridoxal Phosphate(DB00114)|Spermine(DB00127)	TTCCTACATGGAAGCTGGGGT	0.443000														49			29		0	0	0.008361	0	0
PGM1	5236	broad.mit.edu	37	1	64095621	64095622	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:64095621_64095622CC>TT	uc010ooz.2	+	2	717_718	c.472_473CC>TT	c.(472-474)cca>TTa	p.P158L	PGM1_uc001dbh.3_Missense_Mutation_p.P140L|PGM1_uc010ooy.2_5'UTR	NM_001172818	NP_001166290	P36871	PGM1_HUMAN	Homo sapiens phosphoglucomutase 1 (PGM1), transcript variant 2, mRNA.	140					cellular calcium ion homeostasis|galactose catabolic process|glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	magnesium ion binding|phosphoglucomutase activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20						AGGTCCTGCTCCAGAAGCAATA	0.431000														37			11		0	0	0.004672	0	0
TBX15	6913	broad.mit.edu	37	1	119427724	119427724	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:119427724G>A	uc001ehl.1	-	7	1437	c.1122C>T	c.(1120-1122)gtC>gtT	p.V374V	TBX15_uc009whj.1_Silent_p.V198V	NM_152380	NP_689593	Q96SF7	TBX15_HUMAN	Homo sapiens T-box 15 (TBX15), mRNA.	480						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		CTGCCTGCATGACATACTGAA	0.567000														27			12		0	0	0.001855	0	0
RBM5	10181	broad.mit.edu	37	3	50147119	50147119	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:50147119C>T	uc003cyg.3	+	14	1451	c.1276C>T	c.(1276-1278)Ccg>Tcg	p.P426S	RBM5_uc011bdj.2_Missense_Mutation_p.P370S|RBM5_uc011bdk.2_Missense_Mutation_p.P254S	NM_005778	NP_005769	P52756	RBM5_HUMAN	Homo sapiens RNA binding motif protein 5 (RBM5), transcript variant 1, mRNA.	426	Required for interaction with U2AF2.				apoptosis|negative regulation of cell proliferation|positive regulation of apoptosis|regulation of alternative nuclear mRNA splicing, via spliceosome|spliceosome assembly	nucleoplasm|spliceosomal complex	DNA binding|mRNA binding|nucleotide binding|protein binding|zinc ion binding	p.P426P(1)		breast(2)|cervix(2)|endometrium(3)|large_intestine(4)|lung(6)|prostate(2)	19				BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		ACCTGGCTCTCCGGTAATCCT	0.463000														24			67		0	0	0.003610	0	0
OR2T33	391195	broad.mit.edu	37	1	248437021	248437021	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:248437021G>A	uc010pzi.2	-	0	96	c.96C>T	c.(94-96)atC>atT	p.I32I		NM_001004695	NP_001004695	Q8NG76	O2T33_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 33 (OR2T33), mRNA.	32					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			AGGTCAAAACGATACTCAGAA	0.478000														26			24		0	0	0.007291	0	0
SDPR	8436	broad.mit.edu	37	2	192701210	192701210	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:192701210C>T	uc002utb.3	-	1	1072	c.717G>A	c.(715-717)gtG>gtA	p.V239V		NM_004657	NP_004648	O95810	SDPR_HUMAN	Homo sapiens serum deprivation response (SDPR), mRNA.	239						caveola|cytosol	phosphatidylserine binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23			OV - Ovarian serous cystadenocarcinoma(117;0.0647)		Phosphatidylserine(DB00144)	TGAGGCTATCCACTTTCTTCA	0.453000														173			68		0	0	0.003610	0	0
CLN8	2055	broad.mit.edu	37	8	1728728	1728729	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:1728728_1728729CC>TT	uc003wpo.4	+	2	1161_1162	c.856_857CC>TT	c.(856-858)cca>TTa	p.P286L		NM_018941	NP_061764	Q9UBY8	CLN8_HUMAN	Homo sapiens ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation) (CLN8), mRNA.	286					cell death|ceramide biosynthetic process|cholesterol metabolic process|lipid transport|negative regulation of proteolysis|phospholipid metabolic process	ER-Golgi intermediate compartment membrane|endoplasmic reticulum membrane|integral to membrane				central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24		Ovarian(12;0.0563)|Colorectal(14;0.0815)|Hepatocellular(245;0.0831)		BRCA - Breast invasive adenocarcinoma(11;7.67e-05)|READ - Rectum adenocarcinoma(644;0.0913)		GAAGAAGAGGCCATAGCTGCTC	0.594000														36			18		0	0	0.004672	0	0
TTN	7273	broad.mit.edu	37	2	179426563	179426563	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:179426563G>A	uc021vsy.1	-	274	76817	c.76592C>T	c.(76591-76593)tCt>tTt	p.S25531F	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.S19226F|TTN_uc021vta.1_Missense_Mutation_p.S19159F|TTN_uc021vtb.1_Missense_Mutation_p.S19034F	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	26458	Fibronectin type-III 86.						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)			CCATGTTGTAGAGGTGGTTTC	0.403000														31			12		0	0	0.001368	0	0
AOC3	8639	broad.mit.edu	37	17	41004751	41004751	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:41004751C>T	uc002ibv.3	+	0	1551	c.1391C>T	c.(1390-1392)tCt>tTt	p.S464F		NM_003734	NP_003725	Q16853	AOC3_HUMAN	Homo sapiens amine oxidase, copper containing 3 (vascular adhesion protein 1) (AOC3), mRNA.	464					amine metabolic process|cell adhesion|inflammatory response	cell surface|integral to membrane|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|protein homodimerization activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity			breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8)	41		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)	Hydralazine(DB01275)|Phenelzine(DB00780)	GTCGTCAGATCTATGTCCACC	0.547000														35			30		0	0	0.008361	0	0
C7orf43	55262	broad.mit.edu	37	7	99755306	99755306	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:99755306C>T	uc003utr.3	-	2	767	c.587G>A	c.(586-588)cGa>cAa	p.R196Q	C7orf43_uc010lgo.3_5'Flank|C7orf43_uc010lgp.3_5'Flank|C7orf43_uc011kjj.2_5'UTR|C7orf43_uc003uts.3_5'UTR|C7orf43_uc022aih.1_5'Flank	NM_018275	NP_060745	Q8WVR3	CG043_HUMAN	Homo sapiens chromosome 7 open reading frame 43 (C7orf43), mRNA.	196										breast(1)|endometrium(3)|large_intestine(3)|lung(2)|prostate(1)	10	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CCCAGGAGATCGGGTCTGCAG	0.577000											OREG0018198	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		93			27		0	0	0.006320	0	0
IGSF9B	22997	broad.mit.edu	37	11	133791010	133791010	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:133791010C>T	uc001qgx.4	-	17	2841	c.2610G>A	c.(2608-2610)aaG>aaA	p.K870K		NM_014987	NP_055802	Q9UPX0	TUTLB_HUMAN	Homo sapiens immunoglobulin superfamily, member 9B (IGSF9B), mRNA.	870						integral to membrane|plasma membrane				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		TGCGCCTGCTCTTCAGCGAGG	0.662000														61			22		0	0	0.003330	0	0
VN1R2	317701	broad.mit.edu	37	19	53762659	53762659	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:53762659C>T	uc002qbi.2	+	0	1115	c.1031C>T	c.(1030-1032)tCc>tTc	p.S344F		NM_173856	NP_776255	Q8NFZ6	VN1R2_HUMAN	Homo sapiens vomeronasal 1 receptor 2 (VN1R2), mRNA.	344					response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(134;0.00301)		TTCGATAATTCCAGTTGGTGG	0.463000														122			48		0	0	0.003214	0	0
PRKACG	5568	broad.mit.edu	37	9	71628484	71628484	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:71628484G>A	uc004agy.3	-	0	556	c.525C>T	c.(523-525)atC>atT	p.I175I		NM_002732	NP_002723	P22612	KAPCG_HUMAN	Homo sapiens protein kinase, cAMP-dependent, catalytic, gamma (PRKACG), mRNA.	175	Protein kinase.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|gluconeogenesis|intracellular protein kinase cascade|male gonad development|nerve growth factor receptor signaling pathway|regulation of insulin secretion|spermatogenesis|transmembrane transport|triglyceride catabolic process|water transport	cytosol|nucleoplasm	ATP binding|cAMP-dependent protein kinase activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						CCTGCTGGTCGATGAGGAGAT	0.642000														10			9		0	0	0.004482	0	0
VSIG2	23584	broad.mit.edu	37	11	124618586	124618586	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:124618586G>A	uc001qas.3	-	4	736	c.660C>T	c.(658-660)acC>acT	p.T220T	VSIG2_uc001qat.3_Silent_p.T220T	NM_014312	NP_055127	Q96IQ7	VSIG2_HUMAN	Homo sapiens V-set and immunoglobulin domain containing 2 (VSIG2), mRNA.	220	Ig-like C2-type.					integral to plasma membrane|membrane fraction				central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(5)	19	all_hematologic(175;0.215)	Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0215)		CCATCTGGTTGGTGGCCACAC	0.602000														26			9		0	0	0.006214	0	0
DNAH9	1770	broad.mit.edu	37	17	11597666	11597666	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:11597666G>A	uc002gne.3	+	21	4842	c.4774G>A	c.(4774-4776)Gag>Aag	p.E1592K	DNAH9_uc010coo.3_Missense_Mutation_p.E886K	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	1592	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)		GGCCCTGGCAGAGTACCTCGA	0.483000														47			8		0	0	0.003080	0	0
LRRC37A11P	342666	broad.mit.edu	37	17	37187776	37187776	+	RNA	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:37187776C>T	uc002hrd.1	+	0		c.1618C>T								Homo sapiens FLJ43826 protein (FLJ43826), non-coding RNA.																		ATTCTACACCCCTGAAGAAGA	0.493000														91			23		0	0	0.003330	0	0
PPP2R5B	5526	broad.mit.edu	37	11	64693246	64693246	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:64693246C>T	uc001obz.3	+	0	333	c.40C>T	c.(40-42)Ccc>Tcc	p.P14S	PPP2R5B_uc001oby.3_Missense_Mutation_p.P14S	NM_006244	NP_006235	Q15173	2A5B_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit B', beta (PPP2R5B), mRNA.	14					signal transduction	cytoplasm|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)	21						CCCCACTAGCCCCTCCTCCCC	0.721000														5			7		0	0	0.001984	0	0
ANKRD5	63926	broad.mit.edu	37	20	10026277	10026277	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr20:10026277G>A	uc002wno.3	+	5	1145	c.752G>A	c.(751-753)gGg>gAg	p.G251E	LOC100131208_uc002wnn.2_Intron|ANKRD5_uc002wnp.3_Missense_Mutation_p.G251E|ANKRD5_uc010gbz.3_Missense_Mutation_p.G62E	NM_022096	NP_942093	Q9NU02	ANKR5_HUMAN	Homo sapiens ankyrin repeat domain 5 (ANKRD5), transcript variant 1, mRNA.	251							calcium ion binding			breast(2)|endometrium(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	37						TCGATAAATGGGAACACACCA	0.388000														63			19		0	0	0.008871	0	0
CPZ	8532	broad.mit.edu	37	4	8607895	8607895	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:8607895G>A	uc003glm.3	+	4	1063	c.889G>A	c.(889-891)Gag>Aag	p.E297K	CPZ_uc003gll.3_Non-coding_Transcript|CPZ_uc003glo.3_Missense_Mutation_p.E286K|CPZ_uc003gln.3_Missense_Mutation_p.E160K	NM_001014447	NP_001014448	Q66K79	CBPZ_HUMAN	Homo sapiens carboxypeptidase Z (CPZ), transcript variant 1, mRNA.	297					Wnt receptor signaling pathway|proteolysis	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						TGACGGCTATGAGGTGGCAGC	0.607000														15			5		0	0	0.001168	0	0
POLR3A	11128	broad.mit.edu	37	10	79782129	79782129	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:79782129G>A	uc001jzn.3	-	5	792	c.659C>T	c.(658-660)cCc>cTc	p.P220L		NM_007055	NP_008986	O14802	RPC1_HUMAN	Homo sapiens polymerase (RNA) III (DNA directed) polypeptide A, 155kDa (POLR3A), mRNA.	220					innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding			breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			AACTACTAAGGGATTCAAGTT	0.393000														44			15		0	0	0.001523	0	0
REV3L	5980	broad.mit.edu	37	6	111678278	111678278	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:111678278C>T	uc003puy.4	-	17	7464	c.7123G>A	c.(7123-7125)Gaa>Aaa	p.E2375K	REV3L_uc003pux.4_Missense_Mutation_p.E2297K|REV3L_uc003puz.4_Missense_Mutation_p.E2297K|REV3L_uc003pva.1_Non-coding_Transcript	NM_002912	NP_002903	O60673	DPOLZ_HUMAN	Homo sapiens REV3-like, catalytic subunit of DNA polymerase zeta (yeast) (REV3L), mRNA.	2375					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		TAGGTGACTTCGAGTCCTGTA	0.274000								DNA polymerases (catalytic subunits)						111			19		0	0	0.002780	0	0
FOXH1	8928	broad.mit.edu	37	8	145699683	145699683	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:145699683T>A	uc003zdc.3	-	2	1615	c.1036A>T	c.(1036-1038)Agc>Tgc	p.S346C		NM_003923	NP_003914	O75593	FOXH1_HUMAN	Homo sapiens forkhead box H1 (FOXH1), mRNA.	346	SMAD-interaction domain (SID).				axial mesoderm development|blood vessel development|cell migration involved in gastrulation|embryonic heart tube anterior/posterior pattern formation|floor plate formation|heart looping|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|specification of organ position|transforming growth factor beta receptor signaling pathway	activin responsive factor complex	DNA bending activity|R-SMAD binding|double-stranded DNA binding|promoter binding|protein domain specific 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			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.76e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			CGAGGGTGGCTGACCCAAACG	0.672000														33			9		0	0	0.004482	0	0
SYDE1	85360	broad.mit.edu	37	19	15222495	15222495	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:15222495C>T	uc002nah.1	+	5	1501	c.1470C>T	c.(1468-1470)ccC>ccT	p.P490P	SYDE1_uc002nai.1_Silent_p.P423P|SYDE1_uc002naj.1_Silent_p.P147P	NM_033025	NP_149014	Q6ZW31	SYDE1_HUMAN	Homo sapiens synapse defective 1, Rho GTPase, homolog 1 (C. elegans) (SYDE1), mRNA.	490	Rho-GAP.				activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity			endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|pancreas(1)|skin(1)	17						TCACCCAGCCCCTGTATAAGG	0.617000														27			21		0	0	0.001523	0	0
CLSTN2	64084	broad.mit.edu	37	3	140281652	140281652	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:140281652G>A	uc003etn.3	+	14	2403	c.2213_splice	c.e14-1	p.G738_splice		NM_022131	NP_071414	Q9H4D0	CSTN2_HUMAN	Homo sapiens calsyntenin 2 (CLSTN2), mRNA.	738					homophilic cell adhesion	Golgi membrane|endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						TCTTGGCACAGGTGTGGGCTC	0.567000										HNSCC(16;0.037)				36			21		0	0	0.003330	0	0
DNAAF3	352909	broad.mit.edu	37	19	55677912	55677912	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:55677912G>A	uc002qjl.1	-	0	107	c.105C>T	c.(103-105)tcC>tcT	p.S35S	DNAAF3_uc002qji.1_5'UTR|DNAAF3_uc002qjj.1_Silent_p.S35S|DNAAF3_uc002qjk.1_5'UTR	NM_178837	NP_849159	Q8N9W5	CS051_HUMAN	Homo sapiens chromosome 19 open reading frame 51 (C19orf51), mRNA.	0																	AAATATCCCGGGACGCCCCTT	0.612000											OREG0025679	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		88			43		0	0	0.003610	0	0
PCID2	55795	broad.mit.edu	37	13	113851353	113851353	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr13:113851353G>A	uc021rmt.1	-	3	486	c.405C>T	c.(403-405)ctC>ctT	p.L135L	PCID2_uc021rmq.1_Intron|PCID2_uc021rmr.1_Intron|PCID2_uc021rms.1_Intron	NM_018386	NP_060856	Q5JVF3	PCID2_HUMAN	Homo sapiens PCI domain containing 2 (PCID2), transcript variant 3, mRNA.	89					negative regulation of apoptosis|negative regulation of cysteine-type endopeptidase activity|positive regulation of mitotic cell cycle spindle assembly checkpoint|positive regulation of transcription, DNA-dependent|regulation of mRNA stability|spleen development		protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)	20	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_lung(25;0.216)|all_epithelial(44;0.234)	all cancers(43;0.104)			GAGCTGAAACGAGCTTCTGTT	0.438000														56			34		0	0	0.005524	0	0
SPANXN4	441525	broad.mit.edu	37	X	142113816	142113817	+	Missense_Mutation	DNP	TC	GT	GT			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chrX:142113816_142113817TC>GT	uc004fbv.4	+	0	113_114	c.16_17TC>GT	c.(16-18)tcc>GTc	p.S6V		NM_001009613	NP_001009613	Q5MJ08	SPXN4_HUMAN	Homo sapiens SPANX family, member N4 (SPANXN4), mRNA.	6										endometrium(2)|large_intestine(2)|lung(3)|ovary(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					AGAGCCAACTTCCAGCACCAAC	0.426000														1			6		0	0	0.004672	0	0
ATG2A	23130	broad.mit.edu	37	11	64678702	64678702	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:64678702G>A	uc001obx.3	-	9	1389	c.1274C>T	c.(1273-1275)tCg>tTg	p.S425L		NM_015104	NP_055919	Q2TAZ0	ATG2A_HUMAN	Homo sapiens ATG2 autophagy related 2 homolog A (S. cerevisiae) (ATG2A), mRNA.	425							protein binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						CTTCAGCAGCGAGTCAGGGCG	0.627000														42			19		0	0	0.008871	0	0
RBP3	5949	broad.mit.edu	37	10	48388759	48388759	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:48388759C>T	uc001jez.3	-	0	2233	c.2119G>A	c.(2119-2121)Gag>Aag	p.E707K		NM_002900	NP_002891	P10745	RET3_HUMAN	Homo sapiens retinol binding protein 3, interstitial (RBP3), mRNA.	707	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	ACCACCAGCTCGCCAGGGCTG	0.622000														45			14		0	0	0.004990	0	0
PCDHB13	56123	broad.mit.edu	37	5	140594625	140594625	+	Silent	SNP	C	T	T	rs150808997		TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:140594625C>T	uc003lja.1	+	0	1117	c.930C>T	c.(928-930)ttC>ttT	p.F310F		NM_018933	NP_061756	Q9Y5F0	PCDBD_HUMAN	Homo sapiens protocadherin beta 13 (PCDHB13), mRNA.	310	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	p.F310F(4)|p.D309N(1)		NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AACTCGATTTCGAAAAACTTC	0.378000														85			34		0	0	0.002836	0	0
CCT2	10576	broad.mit.edu	37	12	69983283	69983283	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:69983283C>T	uc001svb.1	+	6	559	c.465C>T	c.(463-465)ttC>ttT	p.F155F	CCT2_uc010stl.1_Silent_p.F108F	NM_006431	NP_001185771	P78371	TCPB_HUMAN	Homo sapiens chaperonin containing TCP1, subunit 2 (beta) (CCT2), transcript variant 1, mRNA.	155					'de novo' posttranslational protein folding	nucleus	ATP binding|unfolded protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(1)	24	all_cancers(2;7.7e-106)|Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.72e-18)|GBM - Glioblastoma multiforme(2;2.58e-10)|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)			AAGTTAAATTCCGTCAAGATT	0.303000														25			11		0	0	0.000978	0	0
MUC16	94025	broad.mit.edu	37	19	9063622	9063622	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:9063622A>C	uc002mkp.3	-	2	24028	c.23824T>G	c.(23824-23826)Tca>Gca	p.S7942A		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	7944	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						TGTGAGTGTGAAAATCCTTGA	0.458000														67			25		0	0	0.002780	0	0
OR52H1	390067	broad.mit.edu	37	11	5566205	5566205	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:5566205G>A	uc010qzh.2	-	0	549	c.549C>T	c.(547-549)ccC>ccT	p.P183P	HBG1_uc001mak.1_Intron	NM_001005289	NP_001005289	Q8NGJ2	O52H1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily H, member 1 (OR52H1), mRNA.	183					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(2)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;5.33e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGTATGTGTGGGGTATGATGC	0.493000														31			17		0	0	0.006122	0	0
DSC1	1823	broad.mit.edu	37	18	28714589	28714589	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr18:28714589G>A	uc002kwn.3	-	11	2084	c.1822C>T	c.(1822-1824)Caa>Taa	p.Q608*	DSC1_uc002kwm.3_Nonsense_Mutation_p.Q608*	NM_024421	NP_077739	Q08554	DSC1_HUMAN	Homo sapiens desmocollin 1 (DSC1), transcript variant Dsc1a, mRNA.	608	Cadherin 5.				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			AGAAAGAATTGAAAAGGTGGT	0.358000														29			11		0	0	0.001855	0	0
ITSN2	50618	broad.mit.edu	37	2	24428097	24428097	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:24428097G>A	uc002rfe.2	-	37	5006	c.4748C>T	c.(4747-4749)gCc>gTc	p.A1583V	ITSN2_uc002rff.2_Missense_Mutation_p.A1556V|ITSN2_uc021vep.1_5'Flank	NM_006277	NP_006268	Q9NZM3	ITSN2_HUMAN	Homo sapiens intersectin 2 (ITSN2), transcript variant 1, mRNA.	1583	C2.				endocytosis|regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity|calcium ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGGTTTGCAGGCTTTTAATTC	0.443000														31			18		0	0	0.001882	0	0
MOV10	4343	broad.mit.edu	37	1	113232670	113232670	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:113232670C>T	uc001eck.3	+	4	1056	c.786C>T	c.(784-786)acC>acT	p.T262T	MOV10_uc001ecl.2_Silent_p.T262T|MOV10_uc001ecn.3_Silent_p.T262T|MOV10_uc001ecm.3_Silent_p.T202T|MOV10_uc009wgj.1_Silent_p.T202T	NM_001130079	NP_066014	Q9HCE1	MOV10_HUMAN	Homo sapiens Mov10, Moloney leukemia virus 10, homolog (mouse) (MOV10), transcript variant 2, mRNA.	262					mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body	ATP binding|RNA binding|helicase activity|protein binding			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3)	38	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)		CCCGGATCACCGGAAACCCTG	0.607000														48			8		0	0	0.003080	0	0
PARP1	142	broad.mit.edu	37	1	226564857	226564857	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:226564857G>A	uc001hqd.4	-	12	2064	c.1893C>T	c.(1891-1893)ttC>ttT	p.F631F		NM_001618	NP_001609	P09874	PARP1_HUMAN	Homo sapiens poly (ADP-ribose) polymerase 1 (PARP1), mRNA.	631					cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nuclear envelope|nucleolus|transcription factor complex	DNA binding|NAD+ ADP-ribosyltransferase activity|identical protein binding|protein N-terminus binding|transcription factor binding|zinc ion binding			breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		GATACTTCGTGAAATTTTTGG	0.453000								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA						118			67		0	0	0.003610	0	0
MLL2	8085	broad.mit.edu	37	12	49434302	49434302	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:49434302G>A	uc001rta.4	-	30	7251	c.7251C>T	c.(7249-7251)tcC>tcT	p.S2417S		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	2417	Pro-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	p.R2417*(1)		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						AGCTGGACTGGGACTGAGGAC	0.642000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)				27			10		0	0	0.006214	0	0
COL4A3BP	10087	broad.mit.edu	37	5	74677854	74677854	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:74677854G>C	uc011csu.2	-	14	1959	c.1537C>G	c.(1537-1539)Cga>Gga	p.R513G	COL4A3BP_uc003kds.3_Missense_Mutation_p.R487G|COL4A3BP_uc003kdt.3_Missense_Mutation_p.R641G|COL4A3BP_uc003kdu.2_Missense_Mutation_p.R513G	NM_005713	NP_005704	Q9Y5P4	C43BP_HUMAN	Homo sapiens collagen, type IV, alpha 3 (Goodpasture antigen) binding protein (COL4A3BP), transcript variant 1, mRNA.	513	START.				ER to Golgi ceramide transport|immune response	Golgi apparatus|cytosol|endoplasmic reticulum membrane	ceramide binding|phosphatidylinositol-4-phosphate binding|protein binding|protein kinase activity			breast(1)|kidney(1)|large_intestine(5)|lung(4)|skin(3)|stomach(1)|urinary_tract(1)	16		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;1e-53)		GGTATCTTTCGAATGACAGAA	0.373000														25			10		0	0	0.000978	0	0
MUC16	94025	broad.mit.edu	37	19	9088564	9088564	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:9088564G>A	uc002mkp.3	-	0	3455	c.3251C>T	c.(3250-3252)cCa>cTa	p.P1084L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	1084	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.P1084Q(3)		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						GGACTGAGATGGAGATACTGA	0.448000														43			17		0	0	0.006122	0	0
RWDD2A	112611	broad.mit.edu	37	6	83904175	83904175	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:83904175C>T	uc003pjx.4	+	1	276	c.5C>T	c.(4-6)tCt>tTt	p.S2F	PGM3_uc003pju.2_5'Flank|PGM3_uc003pjw.3_5'Flank|PGM3_uc011dyz.2_5'Flank|PGM3_uc021zcd.1_5'Flank|RWDD2A_uc011dza.2_Intron	NM_033411	NP_219479	Q9UIY3	RWD2A_HUMAN	Homo sapiens RWD domain containing 2A (RWDD2A), mRNA.	2										cervix(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	5		all_cancers(76;2.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00217)		BRCA - Breast invasive adenocarcinoma(397;0.045)		GGCAACATGTCTGCTTCGGTG	0.478000														19			6		0	0	0.003080	0	0
FUT9	10690	broad.mit.edu	37	6	96651530	96651531	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:96651530_96651531CC>TT	uc003pop.4	+	2	840_841	c.499_500CC>TT	c.(499-501)cct>TTt	p.P167F	FUT9_uc021zcw.1_Missense_Mutation_p.P167F	NM_006581	NP_006572	Q9Y231	FUT9_HUMAN	Homo sapiens fucosyltransferase 9 (alpha (1,3) fucosyltransferase) (FUT9), mRNA.	167					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	34		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)		TATCCAAGTGCCTTATGGCTTC	0.460000														31			10		0	0	0.004672	0	0
KRTAP19-4	337971	broad.mit.edu	37	21	31869219	31869219	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr21:31869219C>T	uc011acz.2	-	0	210	c.210G>A	c.(208-210)acG>acA	p.T70T		NM_181610	NP_853641	Q3LI73	KR194_HUMAN	Homo sapiens keratin associated protein 19-4 (KRTAP19-4), mRNA.	70						intermediate filament				central_nervous_system(1)|large_intestine(2)|lung(1)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						CCTCTGATATCGTGTCCTCAG	0.408000														69			40		0	0	0.006230	0	0
DNAJC13	23317	broad.mit.edu	37	3	132185203	132185203	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:132185203C>T	uc003eor.3	+	18	2094	c.2029C>T	c.(2029-2031)Cgg>Tgg	p.R677W	DNAJC13_uc010htq.2_Missense_Mutation_p.R677W	NM_015268	NP_056083	O75165	DJC13_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 13 (DNAJC13), mRNA.	677							heat shock protein binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						GGATGCTGATCGGATGCATGT	0.388000														51			20		0	0	0.002299	0	0
ALMS1	7840	broad.mit.edu	37	2	73651767	73651767	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:73651767C>T	uc002sje.1	+	4	1085	c.974C>T	c.(973-975)tCg>tTg	p.S325L	ALMS1_uc002sjf.1_Missense_Mutation_p.S283L	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Homo sapiens Alstrom syndrome 1 (ALMS1), mRNA.	325					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole		p.S325L(2)		breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						GAGACTATTTCGTCTGTTGAT	0.418000														28			6		0	0	0.001168	0	0
HEPHL1	341208	broad.mit.edu	37	11	93837739	93837739	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:93837739G>A	uc001pep.2	+	15	2885	c.2728G>A	c.(2728-2730)Gga>Aga	p.G910R	AF086184_uc001pen.1_Intron	NM_001098672	NP_001092142	Q6MZM0	HPHL1_HUMAN	Homo sapiens hephaestin-like 1 (HEPHL1), mRNA.	910					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)				ATGCCGAAAAGGAGTCTTGAA	0.333000														52			22		0	0	0.005443	0	0
ODZ3	55714	broad.mit.edu	37	4	183600818	183600819	+	Splice_Site	DNP	GT	AA	AA			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:183600818_183600819GT>AA	uc003ivd.1	+	7	1402	c.1327_splice	c.e7-1	p.Y443_splice	ODZ3_uc003ive.1_5'Flank	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	443					signal transduction	integral to membrane				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)		CCTCCCCCCAGTATGACTTCGT	0.520000														46			19		0	0	0.004672	0	0
GLUL	2752	broad.mit.edu	37	1	182353819	182353819	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:182353819G>A	uc001gpa.2	-	6	1086	c.843C>T	c.(841-843)caC>caT	p.H281H	GLUL_uc010pnt.2_Silent_p.H68H|GLUL_uc001gpb.2_Silent_p.H281H|GLUL_uc001gpc.2_Silent_p.H281H|GLUL_uc001gpd.2_Silent_p.H281H	NM_001033056	NP_002056	P15104	GLNA_HUMAN	Homo sapiens glutamate-ammonia ligase (GLUL), transcript variant 3, mRNA.	281					cell proliferation|glutamine biosynthetic process|neurotransmitter uptake	Golgi apparatus|cytosol|mitochondrion	ATP binding|glutamate decarboxylase activity|glutamate-ammonia ligase activity|identical protein binding			endometrium(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1)	16					Asparaginase(DB00023)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)|L-Methionine(DB00134)	TGTGGTACTGGTGCCGCTTGC	0.498000														68			49		0	0	0.003610	0	0
NRF1	4899	broad.mit.edu	37	7	129311382	129311382	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:129311382C>T	uc003vpa.3	+	3	458	c.338_splice	c.e3+1	p.R113_splice	NRF1_uc003voz.3_Splice_Site_p.R113_splice|NRF1_uc011kpa.2_Intron|NRF1_uc003vpb.3_Splice_Site_p.R113_splice	NM_005011	NP_005002	Q16656	NRF1_HUMAN	Homo sapiens nuclear respiratory factor 1 (NRF1), transcript variant 1, mRNA.	113					generation of precursor metabolites and energy|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	24						ACGTTTGCTTCGGTGAGGGCT	0.458000														37			19		0	0	0.007413	0	0
ANKRD30BP2	149992	broad.mit.edu	37	21	14424137	14424137	+	RNA	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr21:14424137C>T	uc002yiy.3	+	4		c.2952C>T			ANKRD30BP2_uc002yja.4_Non-coding_Transcript					Homo sapiens ankyrin repeat domain 30B pseudogene 2 (ANKRD30BP2), non-coding RNA.																		TGAAGGAACACCTGACGAGGC	0.448000														23			4		0	0	0.000248	0	0
ZNF99	7652	broad.mit.edu	37	19	22941853	22941853	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:22941853T>A	uc021urt.1	-	3	1013	c.858A>T	c.(856-858)aaA>aaT	p.K286N		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)				ATTCTTCACATTTATATGGTT	0.363000														16			11		0	0	0.000978	0	0
PSD4	23550	broad.mit.edu	37	2	113940066	113940066	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:113940066C>T	uc002tjc.3	+	1	216	c.33C>T	c.(31-33)ccC>ccT	p.P11P	PSD4_uc002tjd.3_5'UTR|PSD4_uc002tje.3_Silent_p.P10P|PSD4_uc002tjf.3_5'Flank	NM_012455	NP_036587	Q8NDX1	PSD4_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing 4 (PSD4), mRNA.	11					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						CTGACCACCCCCAGCCCATGG	0.592000														32			6		0	0	0.001984	0	0
ARHGAP26	23092	broad.mit.edu	37	5	142437220	142437220	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:142437220G>A	uc011dbj.2	+	16	1481	c.1446G>A	c.(1444-1446)caG>caA	p.Q482Q	ARHGAP26_uc003lmt.3_Silent_p.Q482Q|ARHGAP26_uc003lmw.3_Silent_p.Q482Q	NM_015071	NP_055886	Q9UNA1	RHG26_HUMAN	Homo sapiens Rho GTPase activating protein 26 (ARHGAP26), transcript variant 1, mRNA.	482	Rho-GAP.				actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction	cytoskeleton|cytosol|focal adhesion	Rho GTPase activator activity|SH3 domain binding|cytoskeletal adaptor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1)	25		all_hematologic(541;0.0416)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGGAGAACCAGGAGTCTCGGG	0.443000														99			46		0	0	0.003610	0	0
SLC22A3	6581	broad.mit.edu	37	6	160828154	160828154	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:160828154C>T	uc003qti.3	+	2	642	c.615C>T	c.(613-615)ttC>ttT	p.F205F	SLC22A3_uc011efx.2_Non-coding_Transcript	NM_021977	NP_068812	O75751	S22A3_HUMAN	Homo sapiens solute carrier family 22 (extraneuronal monoamine transporter), member 3 (SLC22A3), mRNA.	205						integral to plasma membrane|membrane fraction	protein binding|quaternary ammonium group transmembrane transporter activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		Breast(66;0.00028)|Ovarian(120;0.0308)|Prostate(117;0.218)		OV - Ovarian serous cystadenocarcinoma(65;9.47e-17)|BRCA - Breast invasive adenocarcinoma(81;9.75e-06)		CACCAAACTTCCCTGTGTTTG	0.478000														98			24		0	0	0.003954	0	0
TCRBV12S2	0	broad.mit.edu	37	7	142231754	142231754	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:142231754G>A	uc003vyh.2	-	1	261	c.163C>T	c.(163-165)Cga>Tga	p.R55*	TRBV5-1_uc011krr.1_Intron|BV13S6J2.1_uc011krx.2_Intron|BV13S6J2.1_uc011ksa.2_Intron|TCRBV12S2_uc022anm.1_Non-coding_Transcript					SubName: Full=V_segment translation product; Flags: Fragment;																		AGGTCTTGTCGATACCAGAAC	0.488000														95			40		0	0	0.003610	0	0
CWH43	80157	broad.mit.edu	37	4	49005959	49005959	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:49005959A>G	uc003gyv.3	+	6	1192	c.1010A>G	c.(1009-1011)aAg>aGg	p.K337R	CWH43_uc011bzl.2_Missense_Mutation_p.K310R	NM_025087	NP_079363	Q9H720	PG2IP_HUMAN	Homo sapiens cell wall biogenesis 43 C-terminal homolog (S. cerevisiae) (CWH43), mRNA.	337					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						ACAGCTTTTAAGTTTGTCCCA	0.388000														30			6		0	0	0.001984	0	0
HNRNPA2B1	3181	broad.mit.edu	37	7	26232960	26232960	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:26232960C>T	uc003sxr.4	-	9	1127	c.911G>A	c.(910-912)gGa>gAa	p.G304E	HNRNPA2B1_uc003sxs.4_Missense_Mutation_p.G292E	NM_031243	NP_112533	P22626	ROA2_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein A2/B1 (HNRNPA2B1), transcript variant B1, mRNA.	304	Gly-rich.				RNA transport	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	RNA binding|nucleotide binding|protein binding|single-stranded telomeric DNA binding	p.G292A(1)	HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22						GTTATAATTTCCAAAATCATT	0.368000			T	ETV1	prostate									46			15		0	0	0.002450	0	0
ZNF462	58499	broad.mit.edu	37	9	109691436	109691436	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:109691436C>T	uc004bcz.3	+	2	5532	c.5243C>T	c.(5242-5244)cCg>cTg	p.P1748L	MIR548Q_uc022bli.1_Intron|ZNF462_uc010mto.3_Missense_Mutation_p.P1596L|ZNF462_uc004bda.3_Missense_Mutation_p.P1596L	NM_021224	NP_067047	Q96JM2	ZN462_HUMAN	Homo sapiens zinc finger protein 462 (ZNF462), mRNA.	1748					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						ATCCCATCCCCGCCCAAGGAC	0.567000														16			10		0	0	0.006214	0	0
FBXW10	10517	broad.mit.edu	37	17	18668146	18668146	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:18668146G>T	uc002gul.3	+	6	1844	c.1612G>T	c.(1612-1614)Gta>Tta	p.V538L	FBXW10_uc002guj.3_Missense_Mutation_p.V509L|FBXW10_uc002guk.3_Missense_Mutation_p.V509L|FBXW10_uc010cqh.2_Missense_Mutation_p.V509L	NM_031456	NP_113644	Q5XX13	FBW10_HUMAN	Homo sapiens F-box and WD repeat domain containing 10 (FBXW10), mRNA.	509										NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						GAACAGGCTCGTATCTGGAGG	0.463000														55			29		1.4709e-25	1.79235e-25	0.003610	1	0
OR12D2	26529	broad.mit.edu	37	6	29364563	29364563	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:29364563C>T	uc003nmf.4	+	0	148	c.87C>T	c.(85-87)ttC>ttT	p.F29F		NM_013936	NP_039224	P58182	O12D2_HUMAN	Homo sapiens olfactory receptor, family 12, subfamily D, member 2 (OR12D2), mRNA.	29					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	31						TCGTGGTTTTCCTCACCATCT	0.448000														96			33		0	0	0.002096	0	0
SLC5A1	6523	broad.mit.edu	37	22	32445970	32445970	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr22:32445970T>G	uc003amc.3	+	1	426	c.176T>G	c.(175-177)tTc>tGc	p.F59C		NM_000343	NP_000334	P13866	SC5A1_HUMAN	Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 1 (SLC5A1), transcript variant 1, mRNA.	59					carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37						GGAGGCTTCTTCCTGGCAGGC	0.448000														160			79		0	0	0.003610	0	0
ALG12	79087	broad.mit.edu	37	22	50297903	50297903	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr22:50297903C>T	uc003biy.3	-	9	1437	c.1163_splice	c.e9-1	p.D388_splice		NM_024105	NP_077010	Q9BV10	ALG12_HUMAN	Homo sapiens asparagine-linked glycosylation 12, alpha-1,6-mannosyltransferase homolog (S. cerevisiae) (ALG12), mRNA.	388					GPI anchor biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding	integral to membrane|intrinsic to endoplasmic reticulum membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(3)	12		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		BRCA - Breast invasive adenocarcinoma(115;0.199)|LUAD - Lung adenocarcinoma(64;0.247)		AGAAGGACGTCTAGGAAAACC	0.647000														34			13		0	0	0.001855	0	0
SPHKAP	80309	broad.mit.edu	37	2	228884203	228884203	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:228884203G>A	uc002vpq.2	-	6	1414	c.1367C>T	c.(1366-1368)cCa>cTa	p.P456L	SPHKAP_uc002vpp.2_Missense_Mutation_p.P456L|SPHKAP_uc010zlx.1_Missense_Mutation_p.P456L	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	456						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		ACTGCCATCTGGACTCTGAAC	0.512000														54			25		0	0	0.004656	0	0
PTGFRN	5738	broad.mit.edu	37	1	117527523	117527523	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:117527523C>T	uc001egv.1	+	7	2526	c.2389C>T	c.(2389-2391)Cca>Tca	p.P797S		NM_020440	NP_065173	Q9P2B2	FPRP_HUMAN	Homo sapiens prostaglandin F2 receptor negative regulator (PTGFRN), mRNA.	797	Ig-like C2-type 6.					Golgi apparatus|endoplasmic reticulum membrane|integral to membrane	protein binding			NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		TTCCGTGACTCCATGGGTGAA	0.532000														45			8		0	0	0.008291	0	0
GPR87	53836	broad.mit.edu	37	3	151012615	151012615	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:151012615T>A	uc003eyt.2	-	2	780	c.419A>T	c.(418-420)tAt>tTt	p.Y140F	MED12L_uc003eyp.3_Intron|MED12L_uc011bnz.2_Intron	NM_023915	NP_076404	Q9BY21	GPR87_HUMAN	Homo sapiens G protein-coupled receptor 87 (GPR87), mRNA.	140						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(6)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	19			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CACCTTCAGATAGCGATCAAT	0.413000														41			22		0	0	0.002780	0	0
CHRNB4	1143	broad.mit.edu	37	15	78923522	78923522	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:78923522C>T	uc002bed.1	-	3	367	c.255G>A	c.(253-255)tgG>tgA	p.W85*	CHRNB4_uc002bee.1_Nonsense_Mutation_p.W85*|CHRNB4_uc010blh.1_5'UTR	NM_000750	NP_000741	P30926	ACHB4_HUMAN	Homo sapiens cholinergic receptor, nicotinic, beta 4 (CHRNB4), mRNA.	85					regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			endometrium(7)|kidney(1)|lung(13)|prostate(1)	22						GGTAATCAGTCCATTCCTGGA	0.572000														40			14		0	0	0.003163	0	0
GPR141	353345	broad.mit.edu	37	7	37780794	37780794	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:37780794G>A	uc003tfm.1	+	0	799	c.799G>A	c.(799-801)Gaa>Aaa	p.E267K	BC043356_uc003tfl.3_Intron	NM_181791	NP_861456	Q7Z602	GP141_HUMAN	Homo sapiens G protein-coupled receptor 141 (GPR141), mRNA.	267						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.N266K(1)		NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						ATTTTATAACGAAATCTTCTT	0.383000														64			20		0	0	0.008871	0	0
PLXDC2	84898	broad.mit.edu	37	10	20357116	20357116	+	Silent	SNP	C	T	T	rs7912840		TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:20357116C>T	uc001iqg.1	+	3	1126	c.489C>T	c.(487-489)ttC>ttT	p.F163F	PLXDC2_uc001iqh.1_Silent_p.F114F	NM_032812	NP_116201	Q6UX71	PXDC2_HUMAN	Homo sapiens plexin domain containing 2 (PLXDC2), mRNA.	163						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						ATCTGTCCTTCGATTTTCCAT	0.388000														43			14		0	0	0.003163	0	0
BZW2	28969	broad.mit.edu	37	7	16737780	16737780	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:16737780C>T	uc003stj.2	+	9	1239	c.1077C>T	c.(1075-1077)gcC>gcT	p.A359A	BZW2_uc011jxx.1_Silent_p.A165A|BZW2_uc003stl.2_Silent_p.A359A|BZW2_uc003stm.2_Silent_p.A165A	NM_014038	NP_054757	Q9Y6E2	BZW2_HUMAN	Homo sapiens basic leucine zipper and W2 domains 2 (BZW2), transcript variant 2, mRNA.	359	W2.				RNA metabolic process|cell differentiation|nervous system development		protein binding	p.A359V(2)		cervix(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	15	Lung NSC(10;0.0367)|all_lung(11;0.0837)			UCEC - Uterine corpus endometrioid carcinoma (126;0.199)		TCATGAAAGCCTTTCAGAAGA	0.498000														85			59		0	0	0.003610	0	0
RBM15B	29890	broad.mit.edu	37	3	51429941	51429942	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:51429941_51429942CC>TT	uc003dbd.3	+	0	1243_1244	c.1111_1112CC>TT	c.(1111-1113)cct>TTt	p.P371F		NM_013286	NP_037418	Q8NDT2	RB15B_HUMAN	Homo sapiens RNA binding motif protein 15B (RBM15B), mRNA.	371	RRM 2.				RNA splicing|interspecies interaction between organisms|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	RNA binding|nucleotide binding|protein binding			endometrium(4)|large_intestine(5)|lung(3)	12				BRCA - Breast invasive adenocarcinoma(193;0.000224)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CATCAAGAGGCCTGCCCGTGGC	0.584000														9			36		0	0	0.004672	0	0
SEC24D	9871	broad.mit.edu	37	4	119665155	119665155	+	Nonsense_Mutation	SNP	G	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:119665155G>T	uc003ici.4	-	14	2255	c.1983C>A	c.(1981-1983)taC>taA	p.Y661*	SEC24D_uc003ich.4_Non-coding_Transcript|SEC24D_uc003icj.4_Nonsense_Mutation_p.Y662*|SEC24D_uc003icl.2_Non-coding_Transcript	NM_014822	NP_055637	O94855	SC24D_HUMAN	Homo sapiens SEC24 family, member D (S. cerevisiae) (SEC24D), mRNA.	661					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			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						GGAAATTGTTGTATTTGTAAA	0.443000														22			14		3.27435e-08	3.95314e-08	0.002450	1	0
ATP1A3	478	broad.mit.edu	37	19	42471394	42471394	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:42471394C>T	uc002osh.3	-	21	3174	c.3020G>A	c.(3019-3021)gGa>gAa	p.G1007E	ATP1A3_uc010xwf.2_Intron|ATP1A3_uc010xwg.2_Intron|ATP1A3_uc002osg.3_Intron|ATP1A3_uc010xwh.2_Intron			P13637	AT1A3_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 3 polypeptide (ATP1A3), transcript variant 1, mRNA.	0					ATP biosynthetic process	Golgi apparatus|endoplasmic reticulum	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						TTGCCGAGCTCCCTCACCCCC	0.657000														18			10		0	0	0.001368	0	0
CCDC110	256309	broad.mit.edu	37	4	186381105	186381105	+	Missense_Mutation	SNP	C	A	A	rs142282326		TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:186381105C>A	uc003ixu.4	-	5	712	c.636G>T	c.(634-636)atG>atT	p.M212I	CCDC110_uc003ixv.4_Missense_Mutation_p.M175I|CCDC110_uc011ckt.1_Missense_Mutation_p.M212I	NM_152775	NP_689988	Q8TBZ0	CC110_HUMAN	Homo sapiens coiled-coil domain containing 110 (CCDC110), transcript variant 1, mRNA.	212						nucleus				NS(1)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(9)	30		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)		CAGCTTGAGACATCACATTTG	0.318000														21			17		3.32936e-07	4.0151e-07	0.006122	1	0
PCDHB11	56125	broad.mit.edu	37	5	140581700	140581700	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:140581700G>A	uc003liy.3	+	0	2353	c.2353G>A	c.(2353-2355)Gaa>Aaa	p.E785K		NM_018931	NP_061754	Q9Y5F2	PCDBB_HUMAN	Homo sapiens protocadherin beta 11 (PCDHB11), mRNA.	785					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAATAGTGAAGAAAACTCCAC	0.353000														42			13		0	0	0.002450	0	0
ZBP1	81030	broad.mit.edu	37	20	56191424	56191424	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr20:56191424G>A	uc002xyo.3	-	1	416	c.135C>T	c.(133-135)ctC>ctT	p.L45L	ZBP1_uc010gjm.3_Silent_p.L45L|ZBP1_uc002xyp.3_Intron|ZBP1_uc010zzn.2_Silent_p.L45L	NM_030776	NP_110403	Q9H171	ZBP1_HUMAN	Homo sapiens Z-DNA binding protein 1 (ZBP1), transcript variant 1, mRNA.	45						cytoplasm|nucleus	RNA binding|double-stranded RNA adenosine deaminase activity|left-handed Z-DNA binding			large_intestine(11)|lung(8)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	27	Lung NSC(12;0.000545)|all_lung(29;0.00195)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;7.87e-13)|Epithelial(14;3.26e-09)|all cancers(14;3.62e-08)			GGACTTGGTTGAGCTCCCTCT	0.572000														86			31		0	0	0.004289	0	0
LPHN2	23266	broad.mit.edu	37	1	82456096	82456096	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:82456096G>A	uc001dit.4	+	20	3660	c.3479G>A	c.(3478-3480)aGg>aAg	p.R1160K	LPHN2_uc001dis.3_Missense_Mutation_p.R140K|LPHN2_uc001diu.3_Missense_Mutation_p.R1160K|LPHN2_uc001div.3_3'UTR|LPHN2_uc009wcd.3_3'UTR|LPHN2_uc001diw.3_Missense_Mutation_p.R787K	NM_012302	NP_036434	O95490	LPHN2_HUMAN	Homo sapiens latrophilin 2 (LPHN2), mRNA.	1216					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding	p.A1159T(1)		NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		AACAATGCCAGGGATACAAGT	0.418000														55			28		0	0	0.003755	0	0
TCHH	7062	broad.mit.edu	37	1	152081742	152081742	+	Silent	SNP	T	C	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:152081742T>C	uc009wne.1	-	2	4223	c.3951A>G	c.(3949-3951)gaA>gaG	p.E1317E	TCHH_uc001ezp.2_Silent_p.E1317E	NM_007113	NP_009044	Q07283	TRHY_HUMAN	Homo sapiens trichohyalin (TCHH), mRNA.	1317	23 X 26 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCAACTGCTTTTCCTCTTGGG	0.552000														110			62		0	0	0.003610	0	0
DNAH10	196385	broad.mit.edu	37	12	124305290	124305290	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:124305290C>T	uc001uft.4	+	22	3835	c.3810C>T	c.(3808-3810)ctC>ctT	p.L1270L		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	1270	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)		TTTACGAGCTCTATGAAGGAC	0.473000														65			39		0	0	0.006230	0	0
PABPC5	140886	broad.mit.edu	37	X	90691122	90691123	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chrX:90691122_90691123CC>TT	uc022bzs.1	+	0	546_547	c.546_547CC>TT	c.(544-549)ttccca>ttTTca	p.P183S	PABPC5_uc004efg.3_Missense_Mutation_p.P183S	NM_080832	NP_543022	Q96DU9	PABP5_HUMAN	Homo sapiens poly(A) binding protein, cytoplasmic 5 (PABPC5), mRNA.	183						cytoplasm	RNA binding|nucleotide binding	p.P183T(2)		central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1)	42						GATTCAAATTCCCAGAAGAGCG	0.485000														11			7		0	0	0.004672	0	0
ZNF648	127665	broad.mit.edu	37	1	182027103	182027103	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:182027103G>A	uc001goz.3	-	1	251	c.43C>T	c.(43-45)Cct>Tct	p.P15S	ZNF648_uc021pfu.1_Missense_Mutation_p.P15S	NM_001009992	NP_001009992	Q5T619	ZN648_HUMAN	Homo sapiens zinc finger protein 648 (ZNF648), mRNA.	15					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(7)|large_intestine(10)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	40						CTGCTGAGAGGAGACGCCTCT	0.552000														43			16		0	0	0.004007	0	0
CNGB3	54714	broad.mit.edu	37	8	87683197	87683197	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:87683197G>A	uc003ydx.3	-	3	516	c.468C>T	c.(466-468)tcC>tcT	p.S156S	CNGB3_uc010maj.3_Silent_p.S18S	NM_019098	NP_061971	Q9NQW8	CNGB3_HUMAN	Homo sapiens cyclic nucleotide gated channel beta 3 (CNGB3), mRNA.	156			S -> F (in ACHM3).		signal transduction|visual perception	integral to membrane	cGMP binding	p.L155L(1)		NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						CTTCGGGTGAGGAGAGATCTC	0.468000														158			46		0	0	0.003610	0	0
ZNF300	91975	broad.mit.edu	37	5	150282705	150282706	+	Nonsense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:150282705_150282706GG>AA	uc021yfx.1	-	3	488_489	c.60_61CC>TT	c.(58-63)tcccag>tcTTag	p.Q21*	ZNF300_uc021yfy.1_Nonsense_Mutation_p.Q5*|ZNF300_uc021yfz.1_Intron	NM_001172831	NP_001166303	Q96RE9	ZN300_HUMAN	Homo sapiens zinc finger protein 300 (ZNF300), transcript variant 1, mRNA.	5	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)	27		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CAACTCACCTGGGACTTCATCA	0.347000														51			8		0	0	0.004672	0	0
ADAM7	8756	broad.mit.edu	37	8	24350739	24350739	+	Silent	SNP	A	G	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:24350739A>G	uc003xeb.3	+	15	1952	c.1839A>G	c.(1837-1839)ggA>ggG	p.G613G	ADAM7_uc003xec.3_Silent_p.G385G	NM_003817	NP_003808	Q9H2U9	ADAM7_HUMAN	Homo sapiens ADAM metallopeptidase domain 7 (ADAM7), mRNA.	613	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)		GTGGAGAGGGAATGGTAAGAC	0.363000														31			8		0	0	0.003080	0	0
ENDOV	284131	broad.mit.edu	37	17	78389004	78389004	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:78389004G>A	uc021ueo.1	+	0	38	c.10G>A	c.(10-12)Gag>Aag	p.E4K	LOC100294362_uc002jyi.2_5'Flank|ENDOV_uc002jyj.1_Missense_Mutation_p.E4K|ENDOV_uc002jyk.3_Missense_Mutation_p.E4K|ENDOV_uc002jyl.2_Missense_Mutation_p.E4K|ENDOV_uc021uep.1_5'Flank|ENDOV_uc021ueq.1_5'Flank|ENDOV_uc021uer.1_5'Flank|ENDOV_uc021ues.1_5'Flank	NM_173627	NP_775898	Q8N8Q3	ENDOV_HUMAN	Homo sapiens endonuclease V (ENDOV), transcript variant 1, mRNA.	4					DNA repair		endodeoxyribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding	p.L3L(1)		endometrium(1)|lung(1)|pancreas(1)|prostate(1)	4						CATGGCCCTGGAGGCGGCGGG	0.711000								Direct reversal of damage						25			14		0	0	0.003163	0	0
PTGIS	5740	broad.mit.edu	37	20	48156158	48156158	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr20:48156158G>A	uc002xut.3	-	4	676	c.622C>T	c.(622-624)Cgc>Tgc	p.R208C	PTGIS_uc010zyi.2_Missense_Mutation_p.R69C	NM_000961	NP_000952	Q16647	PTGIS_HUMAN	Homo sapiens prostaglandin I2 (prostacyclin) synthase (PTGIS), mRNA.	208					hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|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|prostaglandin-I synthase activity	p.R208C(2)|p.R208H(1)		endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(12;2.37e-05)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Phenylbutazone(DB00812)	TCGAGCTGGCGAAAGGTGTGG	0.642000														34			22		0	0	0.004656	0	0
KCNH5	27133	broad.mit.edu	37	14	63416913	63416913	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:63416913C>T	uc001xfx.3	-	6	1358	c.1307G>A	c.(1306-1308)gGa>gAa	p.G436E	KCNH5_uc001xfy.3_Missense_Mutation_p.G436E|KCNH5_uc001xfz.1_Missense_Mutation_p.G378E|KCNH5_uc001xga.3_Missense_Mutation_p.G378E	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 5 (KCNH5), transcript variant 1, mRNA.	436					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		AGCTATGTTTCCAAATCCTAT	0.398000														42			23		0	0	0.002299	0	0
SLC6A3	6531	broad.mit.edu	37	5	1441518	1441518	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:1441518C>T	uc003jck.3	-	2	500	c.374G>A	c.(373-375)aGg>aAg	p.R125K		NM_001044	NP_001035	Q01959	SC6A3_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, dopamine), member 3 (SLC6A3), mRNA.	125					cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body		p.R125M(2)		breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)	GGCCCCTTCCCTGTTGAACTG	0.597000														34			12		0	0	0.001368	0	0
GSK3B	2932	broad.mit.edu	37	3	119666176	119666176	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:119666176C>T	uc003edo.3	-	2	1288	c.305G>A	c.(304-306)aGa>aAa	p.R102K	GSK3B_uc003edn.3_Missense_Mutation_p.R102K	NM_001146156	NP_001139628	P49841	GSK3B_HUMAN	Homo sapiens glycogen synthase kinase 3 beta (GSK3B), transcript variant 2, mRNA.	102	Protein kinase.				ER overload response|axon guidance|epithelial to mesenchymal transition|glycogen metabolic process|hippocampus development|negative regulation of apoptosis|negative regulation of protein binding|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|positive regulation of Rac GTPase activity|positive regulation of cell-matrix adhesion|positive regulation of protein complex assembly|positive regulation of protein export from nucleus|regulation of microtubule-based process|superior temporal gyrus development	Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|nucleus|plasma membrane	ATP binding|NF-kappaB binding|RNA polymerase II transcription factor binding|beta-catenin binding|p53 binding|protein kinase A catalytic subunit binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin protein ligase binding			endometrium(1)|large_intestine(8)|lung(7)|prostate(2)	18				GBM - Glioblastoma multiforme(114;0.24)	Lithium(DB01356)	ATCTAGCTTTCTCATGATCTG	0.343000														81			38		0	0	0.006999	0	0
INTU	27152	broad.mit.edu	37	4	128564854	128564854	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:128564854C>T	uc003ifk.2	+	1	428	c.325C>T	c.(325-327)Ccc>Tcc	p.P109S	INTU_uc011cgq.2_Non-coding_Transcript	NM_015693	NP_056508	Q9ULD6	PDZD6_HUMAN	Homo sapiens inturned planar cell polarity effector homolog (Drosophila) (INTU), mRNA.	109								p.P109H(1)|p.P109P(1)		breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						AAAGTATGAACCCAAACTCAA	0.363000														63			44		0	0	0.008740	0	0
MUC6	4588	broad.mit.edu	37	11	1018215	1018215	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:1018215G>T	uc001lsw.2	-	30	4637	c.4586C>A	c.(4585-4587)aCt>aAt	p.T1529N		NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN	Homo sapiens mucin 6, oligomeric mucus/gel-forming (MUC6), mRNA.	1529	Pro-rich.|Thr-rich.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|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;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGTGGAGGAAGTGTGTGAATG	0.552000														120			66		3.00472e-47	3.66684e-47	0.003610	1	0
BCL11B	64919	broad.mit.edu	37	14	99641885	99641885	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:99641885C>T	uc001yga.3	-	3	1555	c.1288G>A	c.(1288-1290)Gag>Aag	p.E430K	BCL11B_uc001ygb.3_Missense_Mutation_p.E359K	NM_138576	NP_612808	Q9C0K0	BC11B_HUMAN	Homo sapiens B-cell CLL/lymphoma 11B (zinc finger protein) (BCL11B), transcript variant 1, mRNA.	430						nucleus	zinc ion binding			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		CCGCAGAACTCGCACGACTTG	0.687000			T	TLX3	T-ALL									16			12		0	0	0.002450	0	0
MYT1L	23040	broad.mit.edu	37	2	1926536	1926536	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:1926536G>A	uc002qxe.3	-	9	1832	c.1005C>T	c.(1003-1005)ttC>ttT	p.F335F	MYT1L_uc002qxd.3_Silent_p.F335F|MYT1L_uc010ewl.2_Non-coding_Transcript	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN	Homo sapiens myelin transcription factor 1-like (MYT1L), mRNA.	335					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)		TGGCCAGGTCGAAGCACTGAT	0.562000														26			22		0	0	0.002780	0	0
SLIT3	6586	broad.mit.edu	37	5	168212958	168212958	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:168212958C>T	uc010jjg.3	-	11	1525	c.1105G>A	c.(1105-1107)Gag>Aag	p.E369K	SLIT3_uc003mab.3_Missense_Mutation_p.E369K|SLIT3_uc010jji.2_Missense_Mutation_p.E369K|SLIT3_uc003mac.1_Missense_Mutation_p.E166K	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA.	369					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)			TTGACAATCTCGGTGATCTTG	0.522000														31			17		0	0	0.006122	0	0
LILRA1	11024	broad.mit.edu	37	19	55106306	55106306	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:55106306T>C	uc002qgh.1	+	3	429	c.247T>C	c.(247-249)Ttc>Ctc	p.F83L	LILRA1_uc010yfg.1_Intron|LILRA1_uc010yfh.2_Missense_Mutation_p.F83L	NM_006863	NP_006854	O75019	LIRA1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1 (LILRA1), mRNA.	83	Ig-like C2-type 1.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity	p.F83F(1)|p.F83L(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		GAAGGGCCAGTTCCCCATCCC	0.562000														43			31		0	0	0.003271	0	0
ABHD1	84696	broad.mit.edu	37	2	27351330	27351330	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:27351330C>T	uc002rit.3	+	1	296	c.136C>T	c.(136-138)Ccg>Tcg	p.P46S	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.	46						integral to membrane	carboxylesterase activity			endometrium(1)|kidney(1)|lung(3)	5	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGTGGCTGGGCCGCAGTTTCT	0.572000														47			16		0	0	0.003163	0	0
FAM135B	51059	broad.mit.edu	37	8	139189659	139189659	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:139189659C>T	uc003yuy.3	-	10	1205	c.1034G>A	c.(1033-1035)cGa>cAa	p.R345Q	FAM135B_uc003yux.3_Missense_Mutation_p.R246Q|FAM135B_uc003yuz.3_Non-coding_Transcript	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA.	345								p.R345Q(3)		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)			AGAAAACCTTCGGACCTGCAG	0.378000										HNSCC(54;0.14)				15			7		0	0	0.004482	0	0
C1orf87	127795	broad.mit.edu	37	1	60538248	60538248	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:60538248C>T	uc001czs.2	-	1	176	c.68G>A	c.(67-69)gGa>gAa	p.G23E		NM_152377	NP_689590	Q8N0U7	CA087_HUMAN	Homo sapiens chromosome 1 open reading frame 87 (C1orf87), mRNA.	23							calcium ion binding			breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33						GTGTTTACTTCCAATGATTTT	0.393000														56			27		0	0	0.002445	0	0
FMN1	342184	broad.mit.edu	37	15	33261035	33261035	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:33261035G>T	uc001zhf.4	-	3	2198	c.2198C>A	c.(2197-2199)cCc>cAc	p.P733H	SNORD77_uc021sip.1_5'Flank	NM_001103184	NP_001096654	Q68DA7	FMN1_HUMAN	Homo sapiens formin 1 (FMN1), mRNA.	956	Mediates interaction with alpha-catenin (By similarity).				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		GAGTCCAGGGGGAGGTGGGGG	0.607000														41			11		6.40141e-05	7.69721e-05	0.000978	1	0
TAP2	6891	broad.mit.edu	37	6	32782108	32782108	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:32782108G>A	uc011dqf.1	-	13	2575	c.2453C>T	c.(2452-2454)tCt>tTt	p.S818F	TAP2_uc003oca.3_Missense_Mutation_p.S211F|TAP2_uc011dqg.1_Missense_Mutation_p.S211F	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										CCACTCCACAGAAACAGGGCT	0.488000														47			17		0	0	0.008871	0	0
CUL9	23113	broad.mit.edu	37	6	43164546	43164546	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:43164546C>T	uc003ouk.3	+	10	2824	c.2749C>T	c.(2749-2751)Ctc>Ttc	p.L917F	CUL9_uc003oul.3_Missense_Mutation_p.L917F|CUL9_uc010jyk.3_Missense_Mutation_p.L69F	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN	Homo sapiens cullin 9 (CUL9), mRNA.	917					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						ACGCACCATCCTCATGATGCT	0.537000														33			6		0	0	0.001168	0	0
ATP6V1A	523	broad.mit.edu	37	3	113508623	113508623	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:113508623G>A	uc003eao.3	+	7	1032	c.924G>A	c.(922-924)agG>agA	p.R308R	ATP6V1A_uc011bik.2_Silent_p.R275R	NM_001690	NP_001681	P38606	VATA_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A (ATP6V1A), mRNA.	308					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|integral to plasma membrane|proton-transporting V-type ATPase, V1 domain	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TTATGAAGAGGACAGCTTTGG	0.368000														86			25		0	0	0.002096	0	0
COMMD8	54951	broad.mit.edu	37	4	47455144	47455144	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:47455144G>A	uc003gxi.3	-	3	471	c.463C>T	c.(463-465)Cct>Tct	p.P155S		NM_017845	NP_060315	Q9NX08	COMD8_HUMAN	Homo sapiens COMM domain containing 8 (COMMD8), mRNA.	155	COMM.						protein binding			large_intestine(2)|lung(5)|prostate(1)	8						ATAGAATAAGGTTTTACTTCA	0.353000														57			28		0	0	0.005443	0	0
TCRA	0	broad.mit.edu	37	14	22616474	22616474	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:22616474A>C	uc010ajk.2	+	1	301	c.215A>C	c.(214-216)gAa>gCa	p.E72A	TCRA_uc001wbw.2_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron|T-Cell_Receptor_V-alpha_region_uc021rpl.1_Intron|TCRA_uc010tmo.2_Intron|TCRA_uc001wco.3_Intron|TCRA_uc010aje.1_Intron|TCRA_uc001wcp.2_Intron|TCRA_uc001wcr.1_Intron|TCRA_uc001wcs.1_Intron|TCRA_uc010ajf.1_Intron|TCRA_uc001wcu.4_Intron|TCRA_uc021rpn.1_Intron|TCRA_uc001wcx.4_Intron|TCRA_uc021rpr.1_Intron|TCRA_uc001wdd.2_Intron|TCRA_uc010ajj.1_Intron|TCRA_uc001wde.1_Intron|TCRA_uc001wdg.1_5'UTR|TCRA_uc021rpt.1_5'UTR					SubName: Full=TRA@ protein;																		ACGGGTGGAGAAGTGAAGAAG	0.502000														26			6		0	0	0.001168	0	0
ASXL3	80816	broad.mit.edu	37	18	31323920	31323920	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr18:31323920C>T	uc010dmg.1	+	11	4163	c.4108C>T	c.(4108-4110)Cct>Tct	p.P1370S	ASXL3_uc002kxq.2_Missense_Mutation_p.P1077S	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA.	1370					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						CAACAGATTTCCTTCTGAGAA	0.498000											OREG0024911	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		80			45		0	0	0.002852	0	0
ARPP21	10777	broad.mit.edu	37	3	35729359	35729359	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:35729359C>T	uc011axy.2	+	4	602	c.390C>T	c.(388-390)atC>atT	p.I130I	ARPP21_uc003cga.3_Silent_p.I130I|ARPP21_uc003cgb.3_Silent_p.I130I|ARPP21_uc003cgf.3_5'Flank	NM_016300	NP_057384	Q9UBL0	ARP21_HUMAN	Homo sapiens cAMP-regulated phosphoprotein, 21kDa (ARPP21), transcript variant 1, mRNA.	130						cytoplasm	nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						AACCCAAGATCAGAATGTTAT	0.338000														98			28		0	0	0.002096	0	0
CASC4	113201	broad.mit.edu	37	15	44673061	44673061	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:44673061C>T	uc001ztp.3	+	7	1278	c.959C>T	c.(958-960)cCt>cTt	p.P320L	CASC4_uc001ztq.3_Missense_Mutation_p.P320L|CASC4_uc001zto.2_Missense_Mutation_p.P320L	NM_138423	NP_612432	Q6P4E1	CASC4_HUMAN	Homo sapiens cancer susceptibility candidate 4 (CASC4), transcript variant 1, mRNA.	320						integral to membrane				NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(2)	17		all_cancers(109;1.69e-13)|all_epithelial(112;3.94e-11)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.027)		all cancers(107;2.91e-20)|GBM - Glioblastoma multiforme(94;1.57e-06)|COAD - Colon adenocarcinoma(120;0.217)|Colorectal(105;0.237)		CCTTCCAGTCCTCTTCAGCGT	0.373000														29			11		0	0	0.001368	0	0
KLK8	11202	broad.mit.edu	37	19	51501066	51501066	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:51501066C>T	uc002puq.1	-	4	889	c.703G>A	c.(703-705)Ggg>Agg	p.G235R	KLK8_uc002pur.1_Missense_Mutation_p.G190R|KLK8_uc002pus.1_Missense_Mutation_p.G49R|KLK8_uc002put.1_Intron|KLK8_uc002puu.1_Missense_Mutation_p.G190R|KLK8_uc002puv.1_Non-coding_Transcript	NM_144505	NP_653088	O60259	KLK8_HUMAN	Homo sapiens kallikrein-related peptidase 8 (KLK8), transcript variant 2, mRNA.	190	Peptidase S1.				cell death|keratinocyte proliferation|memory|negative regulation of axon regeneration|negative regulation of myelination|neuron projection morphogenesis|proteolysis|regulation of synapse organization|response to wounding	cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|prostate(1)	15		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.0033)|GBM - Glioblastoma multiforme(134;0.00888)		GTGATCTGCCCCGGGTAAGCA	0.502000														60			32		0	0	0.004289	0	0
CSMD2	114784	broad.mit.edu	37	1	34383744	34383744	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:34383744C>T	uc001bxm.1	-	4	1048	c.871G>A	c.(871-873)Gat>Aat	p.D291N	CSMD2_uc001bxn.1_Missense_Mutation_p.D251N	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	251	CUB 2.					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)				TCGTAACCATCCTCCAGCTGG	0.527000														19			12		0	0	0.001855	0	0
CIT	11113	broad.mit.edu	37	12	120204947	120204947	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:120204947G>A	uc001txj.2	-	18	2304	c.2248C>T	c.(2248-2250)Cag>Tag	p.Q750*	CIT_uc001txh.2_Nonsense_Mutation_p.Q242*|CIT_uc001txi.2_Nonsense_Mutation_p.Q708*	NM_001206999	NP_001193928	O14578	CTRO_HUMAN	Homo sapiens citron (rho-interacting, serine/threonine kinase 21) (CIT), transcript variant 1, mRNA.	708					intracellular signal transduction		ATP binding|SH3 domain binding|metal ion binding|protein serine/threonine kinase activity|small GTPase regulator activity	p.A750V(1)		breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		TCTAGGTGCTGGGCTGAGACT	0.483000														151			80		0	0	0.003610	0	0
TCIRG1	10312	broad.mit.edu	37	11	67816408	67816408	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:67816408C>T	uc001one.3	+	13	1746	c.1617C>T	c.(1615-1617)gtC>gtT	p.V539V	TCIRG1_uc001ong.3_Silent_p.V323V|TCIRG1_uc009ysd.3_5'Flank	NM_006019	NP_006044	Q13488	VPP3_HUMAN	Homo sapiens T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3 (TCIRG1), transcript variant 1, mRNA.	539					ATP hydrolysis coupled proton transport|cellular defense response|cellular iron ion homeostasis|insulin receptor signaling pathway|positive regulation of cell proliferation|transferrin transport	apical plasma membrane|endosome membrane|integral to plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity			breast(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(3)|prostate(1)	16						AGATGTCCGTCATCCTGGGCG	0.632000														89			46		0	0	0.003610	0	0
SYCP1	6847	broad.mit.edu	37	1	115453110	115453110	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:115453110C>T	uc001efr.3	+	16	1622	c.1413C>T	c.(1411-1413)ctC>ctT	p.L471L	SYCP1_uc010owt.2_Non-coding_Transcript|SYCP1_uc001efq.3_Silent_p.L471L|SYCP1_uc009wgw.3_Silent_p.L471L	NM_003176	NP_003167	Q15431	SYCP1_HUMAN	Homo sapiens synaptonemal complex protein 1 (SYCP1), mRNA.	471					cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		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)		TTGGTCTTCTCCAAGCCAGAG	0.259000														83			24		0	0	0.005443	0	0
LUC7L2	51631	broad.mit.edu	37	7	139090426	139090426	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:139090426A>G	uc011kqt.2	+	5	835	c.601A>G	c.(601-603)Aaa>Gaa	p.K201E	LUC7L2_uc011kqs.2_Missense_Mutation_p.K132E|LUC7L2_uc003vuy.3_Missense_Mutation_p.K134E|LUC7L2_uc003vux.3_Missense_Mutation_p.K135E|LUC7L2_uc003vuz.1_Missense_Mutation_p.K82E|LUC7L2_uc003vva.3_Missense_Mutation_p.K82E	NM_001244584	NP_001231513	Q9Y383	LC7L2_HUMAN	Homo sapiens LUC7-like 2 (S. cerevisiae) (LUC7L2), transcript variant 2, mRNA.	135							enzyme binding|metal ion binding			NS(2)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	16	Melanoma(164;0.242)					AGAAATTGGTAAATTGTTAGC	0.343000														33			5		0	0	0.000602	0	0
MUC16	94025	broad.mit.edu	37	19	9009333	9009333	+	Splice_Site	SNP	A	G	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:9009333A>G	uc002mkp.3	-	40	39343	c.39139_splice	c.e40-1	p.L13047_splice	MUC16_uc010dwi.3_5'Flank|MUC16_uc010dwj.3_5'Flank|MUC16_uc021uog.1_Intron	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	13049	SEA 7.				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						CAAGGGACCAAGCTGTGGAAA	0.547000														33			11		0	0	0.001855	0	0
SENP5	205564	broad.mit.edu	37	3	196612362	196612362	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:196612362T>C	uc003fwz.4	+	1	559	c.310T>C	c.(310-312)Ttc>Ctc	p.F104L	SENP5_uc011bty.2_Missense_Mutation_p.F104L	NM_152699	NP_689912	Q96HI0	SENP5_HUMAN	Homo sapiens SUMO1/sentrin specific peptidase 5 (SENP5), mRNA.	104					cell cycle|cell division|proteolysis	nucleolus	cysteine-type peptidase activity			NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(14)|skin(1)	32	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;3.14e-24)|all cancers(36;2.1e-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;0.004)		CGCTAAACACTTCATTTCCTC	0.408000														38			19		0	0	0.007413	0	0
KIAA1279	26128	broad.mit.edu	37	10	70748929	70748929	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:70748929G>A	uc001joy.3	+	0	453	c.341G>A	c.(340-342)gGg>gAg	p.G114E		NM_015634	NP_056449	Q96EK5	KBP_HUMAN	Homo sapiens KIAA1279 (KIAA1279), nuclear gene encoding mitochondrial protein, mRNA.	114					cell differentiation|mitochondrial transport|nervous system development	mitochondrion	kinesin binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	14						CTGTCGGCGGGGGAGGAGCAC	0.682000														34			11		0	0	0.008291	0	0
KIF1B	23095	broad.mit.edu	37	1	10386322	10386322	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:10386322C>T	uc001aqx.4	+	26	3031	c.2829C>T	c.(2827-2829)gcC>gcT	p.A943A	KIF1B_uc001aqw.4_Silent_p.A897A|KIF1B_uc001aqy.3_Silent_p.A917A|KIF1B_uc001aqz.3_Silent_p.A943A|KIF1B_uc001ara.3_Silent_p.A903A|KIF1B_uc001arb.3_Silent_p.A929A	NM_015074	NP_055889	O60333	KIF1B_HUMAN	Homo sapiens kinesin family member 1B (KIF1B), transcript variant 1, mRNA.	943					anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		TGGATGACGCCGGCTCTGACG	0.552000														24			30		0	0	0.001786	0	0
TRHDE	29953	broad.mit.edu	37	12	72866880	72866880	+	Missense_Mutation	SNP	G	A	A	rs147826771		TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:72866880G>A	uc001sxa.3	+	4	1399	c.1369G>A	c.(1369-1371)Gaa>Aaa	p.E457K		NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN	Homo sapiens thyrotropin-releasing hormone degrading enzyme (TRHDE), mRNA.	457					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						TGTGTGGTGGGAAGACGTGTG	0.393000														159			46		0	0	0.003610	0	0
GALNT8	26290	broad.mit.edu	37	12	4870257	4870257	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:4870257G>A	uc001qne.1	+	6	1399	c.1307G>A	c.(1306-1308)tGg>tAg	p.W436*		NM_017417	NP_059113	Q9NY28	GALT8_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8) (GALNT8), mRNA.	436						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						GCCGAAATCTGGATGGATGAG	0.542000														40			27		0	0	0.001786	0	0
CYP4F12	66002	broad.mit.edu	37	19	15789169	15789169	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:15789169C>T	uc002nbl.3	+	2	416	c.297C>T	c.(295-297)atC>atT	p.I99I	CYP4F12_uc010xoo.2_Silent_p.I99I|CYP4F12_uc010xop.2_Silent_p.I99I	NM_023944	NP_076433			Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 12 (CYP4F12), mRNA.									p.I99I(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)					TCCCCTTCATCGTTTTATGCC	0.547000														72			28		0	0	0.008361	0	0
CMYA5	202333	broad.mit.edu	37	5	79030981	79030981	+	Silent	SNP	A	G	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:79030981A>G	uc003kgc.3	+	1	6465	c.6393A>G	c.(6391-6393)caA>caG	p.Q2131Q		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	Homo sapiens cardiomyopathy associated 5 (CMYA5), mRNA.	2131						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		TACCCACACAAAGAAAACCCA	0.443000														66			19		0	0	0.008871	0	0
ATXN3L	92552	broad.mit.edu	37	X	13337192	13337192	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chrX:13337192C>T	uc010ned.3	-	0	1327	c.862G>A	c.(862-864)Gaa>Aaa	p.E288K		NM_001135995	NP_001129467	Q9H3M9	ATX3L_HUMAN	Homo sapiens ataxin 3-like (ATXN3L), mRNA.	288					protein deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ubiquitin-specific protease activity			endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						TGATGCTTTTCAAAATAGTCT	0.448000														37			72		0	0	0.003610	0	0
abParts	0	broad.mit.edu	37	14	106791172	106791172	+	RNA	SNP	T	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:106791172T>A	uc021ser.1	-	619		c.17220A>T								Parts of antibodies, mostly variable regions.																		TCCAGCCCCTTGCCTGGAGCC	0.542000														197			11		0	0	0.004007	0	0
AMOT	154796	broad.mit.edu	37	X	112048297	112048297	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chrX:112048297C>T	uc004epr.3	-	4	1672	c.1654G>A	c.(1654-1656)Gag>Aag	p.E552K	AMOT_uc004eps.3_Missense_Mutation_p.E143K	NM_001113490	NP_573572	Q4VCS5	AMOT_HUMAN	Homo sapiens angiomotin (AMOT), transcript variant 1, mRNA.	552					actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction	angiostatin binding|protein binding|receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						TCCAGCTTCTCCTTCTCACGC	0.507000														38			66		0	0	0.003610	0	0
COL1A1	1277	broad.mit.edu	37	17	48267439	48267439	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:48267439C>T	uc002iqm.3	-	35	2608	c.2482G>A	c.(2482-2484)Gaa>Aaa	p.E828K		NM_000088	NP_000079	P02452	CO1A1_HUMAN	Homo sapiens collagen, type I, alpha 1 (COL1A1), mRNA.	828	Triple-helical region.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding	p.E828K(2)	COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	TCACCAGGTTCGCCTTTAGCA	0.657000			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta							51			18		0	0	0.007413	0	0
RBM22	55696	broad.mit.edu	37	5	150071405	150071405	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:150071405G>A	uc003lst.3	-	10	1293	c.1171C>T	c.(1171-1173)Cct>Tct	p.P391S		NM_018047	NP_060517	Q9NW64	RBM22_HUMAN	Homo sapiens RNA binding motif protein 22 (RBM22), mRNA.	391	Pro-rich.				protein import into nucleus, translocation	catalytic step 2 spliceosome|cytoplasm	RNA binding|calcium-dependent protein binding|nucleotide binding|zinc ion binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(1)	17		Medulloblastoma(196;0.167)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATGAAAGGAGGGGGTGGTCCC	0.522000														38			22		0	0	0.003954	0	0
OR52J3	119679	broad.mit.edu	37	11	5068607	5068607	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:5068607C>T	uc010qyv.2	+	0	852	c.852C>T	c.(850-852)atC>atT	p.I284I		NM_001001916	NP_001001916	Q8NH60	O52J3_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily J, member 3 (OR52J3), mRNA.	284					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)		ATTTGATTATCCCACCCTCTC	0.383000														55			28		0	0	0.007291	0	0
WNT8B	7479	broad.mit.edu	37	10	102239754	102239754	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:102239754G>A	uc001krb.3	+	2	340	c.226G>A	c.(226-228)Ggt>Agt	p.G76S		NM_003393	NP_003384	Q93098	WNT8B_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 8B (WNT8B), mRNA.	76					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)		GTCCAGCCATGGTGGGCTTCG	0.592000														26			9		0	0	0.004482	0	0
TTN	7273	broad.mit.edu	37	2	179585326	179585326	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:179585326G>A	uc021vsy.1	-	76	19656	c.19431C>T	c.(19429-19431)ctC>ctT	p.L6477L	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.L3138L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	7404	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)			TTTCACATTGGAGAATCACAT	0.388000														21			12		0	0	0.001855	0	0
NOMO1	23420	broad.mit.edu	37	16	14980679	14980679	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:14980679C>T	uc002dcv.3	+	27	3350	c.3284C>T	c.(3283-3285)tCc>tTc	p.S1095F		NM_014287	NP_055102	Q15155	NOMO1_HUMAN	Homo sapiens NODAL modulator 1 (NOMO1), mRNA.	1095						integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding			endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2)	30						CTTGGCCAGTCCCTGTTCTTC	0.468000														145			26		0	0	0.004878	0	0
N6AMT2	221143	broad.mit.edu	37	13	21331756	21331756	+	Splice_Site	SNP	C	G	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr13:21331756C>G	uc001uno.1	-	2	63	c.-18_splice	c.e2-1		N6AMT2_uc009zzr.1_Splice_Site|N6AMT2_uc001unp.2_Splice_Site	NM_174928	NP_777588	Q8WVE0	N6MT2_HUMAN	Homo sapiens N-6 adenine-specific DNA methyltransferase 2 (putative) (N6AMT2), mRNA.								methyltransferase activity|nucleic acid binding			endometrium(1)|large_intestine(3)|lung(3)	7		all_cancers(29;5.91e-19)|all_epithelial(30;1.42e-15)|all_lung(29;5.9e-14)|Lung SC(185;0.0367)		all cancers(112;0.000234)|Epithelial(112;0.000471)|OV - Ovarian serous cystadenocarcinoma(117;0.0111)|Lung(94;0.0161)|LUSC - Lung squamous cell carcinoma(192;0.0431)		TTGTTTATAACCTGCAGATCA	0.378000														30			6		0	0	0.001168	0	0
ALK	238	broad.mit.edu	37	2	29462661	29462661	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:29462661C>T	uc002rmy.3	-	12	3192	c.2240G>A	c.(2239-2241)gGg>gAg	p.G747E		NM_004304	NP_004295	Q9UM73	ALK_HUMAN	Homo sapiens anaplastic lymphoma receptor tyrosine kinase (ALK), mRNA.	747					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	p.G746C(1)|p.G746G(1)	ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	GGTGTTCTTCCCGCCTTTCCC	0.592000			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome					24			10		0	0	0.001368	0	0
CACNA1S	779	broad.mit.edu	37	1	201061174	201061174	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:201061174C>T	uc001gvv.3	-	3	694	c.467G>A	c.(466-468)gGa>gAa	p.G156E		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1S subunit (CACNA1S), mRNA.	156					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)	CAAGCCGGCTCCTTTGCTGCT	0.602000														39			16		0	0	0.006122	0	0
CD5	921	broad.mit.edu	37	11	60892556	60892556	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:60892556C>T	uc009ynk.3	+	8	1435	c.1332C>T	c.(1330-1332)ccC>ccT	p.P444P		NM_014207	NP_055022	P06127	CD5_HUMAN	Homo sapiens CD5 molecule (CD5), mRNA.	444					cell proliferation|cell recognition	integral to plasma membrane	scavenger receptor activity			central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_lung(304;5.94e-05)|Lung NSC(402;7.26e-05)		BRCA - Breast invasive adenocarcinoma(625;0.000946)|Lung(977;0.0086)|LUSC - Lung squamous cell carcinoma(625;0.0528)		CTGAGAACCCCACAGCCTCCC	0.592000														34			10		0	0	0.001368	0	0
CFH	3075	broad.mit.edu	37	1	196883689	196883689	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:196883689C>T	uc001gtp.3	+	7	1382	c.1245C>T	c.(1243-1245)ctC>ctT	p.L415L	CFH_uc021pgt.1_Intron|CFH_uc009wyy.3_Silent_p.L414L|CFH_uc001gto.3_Silent_p.L168L	NM_001201550	NP_001188479	P08603	CFAH_HUMAN	Homo sapiens complement factor H-related 4 (CFHR4), transcript variant 1, mRNA.	773	Sushi 7.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						GGTTTAAGCTCCATGACACAT	0.403000														42			13		0	0	0.001855	0	0
ARAP1	116985	broad.mit.edu	37	11	72425353	72425353	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:72425353C>T	uc001osu.3	-	3	712	c.523G>A	c.(523-525)Gag>Aag	p.E175K	ARAP1_uc001osv.3_Missense_Mutation_p.E175K|ARAP1_uc001osr.3_5'Flank|ARAP1_uc001oss.3_5'UTR|ARAP1_uc009yth.3_5'UTR|ARAP1_uc010rre.2_5'UTR	NM_001040118	NP_056057	Q96P48	ARAP1_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1 (ARAP1), transcript variant 3, mRNA.	175					actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	Golgi cisterna membrane|cytosol|plasma membrane	ARF GTPase activator activity|Rho GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						GACTCCTCCTCCTTAGTGGGC	0.587000														96			49		0	0	0.003610	0	0
PAMR1	25891	broad.mit.edu	37	11	35454294	35454294	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:35454294G>C	uc001mwf.3	-	11	1867	c.1824C>G	c.(1822-1824)ttC>ttG	p.F608L	PAMR1_uc001mwg.3_Missense_Mutation_p.F591L|PAMR1_uc010rew.2_Missense_Mutation_p.F480L|PAMR1_uc010rex.2_Missense_Mutation_p.F551L	NM_015430	NP_056245	Q6UXH9	PAMR1_HUMAN	Homo sapiens peptidase domain containing associated with muscle regeneration 1 (PAMR1), transcript variant 1, mRNA.	591	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						GGGACTCCTGGAAGGAAGTGC	0.602000														26			15		0	0	0.004990	0	0
NYAP2	57624	broad.mit.edu	37	2	226446840	226446840	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:226446840G>A	uc002voe.2	+	3	882	c.707G>A	c.(706-708)gGa>gAa	p.G236E	NYAP2_uc010fxa.1_Intron|NYAP2_uc002vof.1_Missense_Mutation_p.G6E	NM_020864	NP_065915	Q9P242	K1486_HUMAN	Homo sapiens neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2 (NYAP2), mRNA.	236																	AGCCCCGCGGGAGACCCCGAG	0.602000														81			32		0	0	0.002096	0	0
KLHL11	55175	broad.mit.edu	37	17	40010862	40010862	+	Silent	SNP	A	G	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:40010862A>G	uc002hyf.1	-	1	1263	c.1257T>C	c.(1255-1257)ttT>ttC	p.F419F		NM_018143	NP_060613	Q9NVR0	KLH11_HUMAN	Homo sapiens kelch-like 11 (Drosophila) (KLHL11), mRNA.	419						extracellular region				NS(2)|breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17		Breast(137;0.00156)				CAGTTTTAGCAAACCCTGGCT	0.398000														64			26		0	0	0.008361	0	0
SYNE2	23224	broad.mit.edu	37	14	64476794	64476794	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:64476794C>T	uc001xgl.3	+	31	4918	c.4688C>T	c.(4687-4689)tCg>tTg	p.S1563L	SYNE2_uc001xgm.3_Missense_Mutation_p.S1563L|SYNE2_uc021ruh.1_Missense_Mutation_p.S1563L	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA.	1563					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)		CTGCAGGCTTCGTACATGGGA	0.428000														21			9		0	0	0.008291	0	0
UNC79	57578	broad.mit.edu	37	14	94044293	94044293	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:94044293C>T	uc001ybv.1	+	14	1869	c.1786C>T	c.(1786-1788)Cgt>Tgt	p.R596C	UNC79_uc001ybs.1_Missense_Mutation_p.R596C	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	Homo sapiens unc-79 homolog (C. elegans) (UNC79), mRNA.	773						integral to membrane		p.R596C(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						TAGTCCGTTTCGTAGCCCTTT	0.433000														136			55		0	0	0.003610	0	0
SPZ1	84654	broad.mit.edu	37	5	79616859	79616859	+	RNA	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:79616859G>A	uc011ctk.1	-	0		c.800C>T			SPZ1_uc003kgn.3_Silent_p.Q275Q			Q9BXG8	SPZ1_HUMAN	Homo sapiens cDNA FLJ25709 fis, clone TST04944.						regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			endometrium(2)|kidney(5)|large_intestine(4)|lung(12)|ovary(1)|skin(2)	26		Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;3.43e-47)|Epithelial(54;2.25e-41)|all cancers(79;4.19e-36)		AGAAATCTCAGAAAGACATAA	0.403000														41			22		0	0	0.002299	0	0
PRDM12	59335	broad.mit.edu	37	9	133556642	133556642	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:133556642C>T	uc004bzt.1	+	4	750	c.690C>T	c.(688-690)ttC>ttT	p.F230F		NM_021619	NP_067632	Q9H4Q4	PRD12_HUMAN	Homo sapiens PR domain containing 12 (PRDM12), mRNA.	230					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(2)|large_intestine(3)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11		all_hematologic(13;0.0433)|Acute lymphoblastic leukemia(5;0.0534)		OV - Ovarian serous cystadenocarcinoma(145;0.000344)		CAGAGGACTTCCACCCGGCGG	0.746000														11			5		0	0	0.001168	0	0
NLRP13	126204	broad.mit.edu	37	19	56424257	56424257	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:56424257A>T	uc010ygg.2	-	4	951	c.926T>A	c.(925-927)aTt>aAt	p.I309N		NM_176810	NP_789780	Q86W25	NAL13_HUMAN	Homo sapiens NLR family, pyrin domain containing 13 (NLRP13), mRNA.	309	NACHT.						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)		GCCATCAATAATAAACAGGAG	0.453000														41			9		0	0	0.006214	0	0
DSP	1832	broad.mit.edu	37	6	7579632	7579632	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:7579632C>T	uc003mxp.1	+	22	3488	c.3209C>T	c.(3208-3210)tCc>tTc	p.S1070F	DSP_uc003mxq.1_Missense_Mutation_p.S1070F|DSP_uc021yle.1_Missense_Mutation_p.S1070F	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	1070	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)		GCAGAGTGTTCCCAGTTCAAA	0.507000														53			11		0	0	0.002450	0	0
IQGAP2	10788	broad.mit.edu	37	5	75866423	75866423	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:75866423C>T	uc003kek.3	+	3	544	c.322C>T	c.(322-324)Cga>Tga	p.R108*		NM_006633	NP_006624	Q13576	IQGA2_HUMAN	Homo sapiens IQ motif containing GTPase activating protein 2 (IQGAP2), mRNA.	108	CH.				small GTPase mediated signal transduction	actin cytoskeleton	GTPase inhibitor activity|Ras GTPase activator activity|actin binding|calmodulin binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		CCTTCATTTTCGACACACAGA	0.428000														94			22		0	0	0.002299	0	0
COL6A3	1293	broad.mit.edu	37	2	238280629	238280629	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:238280629G>A	uc002vwl.2	-	8	4316	c.4031C>T	c.(4030-4032)tCg>tTg	p.S1344L	COL6A3_uc002vwo.2_Missense_Mutation_p.S1138L|COL6A3_uc010znj.1_Missense_Mutation_p.S737L|COL6A3_uc002vwq.3_Missense_Mutation_p.S1138L|COL6A3_uc002vwr.3_Missense_Mutation_p.S937L	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	1344	Nonhelical region.|VWFA 7.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CTTTCCAGACGAGATGAGGAC	0.612000														20			10		0	0	0.000978	0	0
GRM3	2913	broad.mit.edu	37	7	86468433	86468433	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:86468433G>A	uc003uid.3	+	3	2702	c.1603G>A	c.(1603-1605)Gaa>Aaa	p.E535K	GRM3_uc010lef.3_Intron|GRM3_uc010leg.3_Missense_Mutation_p.E407K|GRM3_uc010leh.3_Missense_Mutation_p.E127K	NM_000840	NP_000831	Q14832	GRM3_HUMAN	Homo sapiens glutamate receptor, metabotropic 3 (GRM3), mRNA.	535					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)	CATCCCCTGTGAACCCTACGA	0.532000														59			31		0	0	0.002445	0	0
ATG2B	55102	broad.mit.edu	37	14	96798681	96798681	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:96798681G>T	uc001yfi.3	-	9	1794	c.1429C>A	c.(1429-1431)Cca>Aca	p.P477T		NM_018036	NP_060506	Q96BY7	ATG2B_HUMAN	Homo sapiens ATG2 autophagy related 2 homolog B (S. cerevisiae) (ATG2B), mRNA.	477										breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		AGGTTGGATGGAAATGTTGAC	0.368000														87			38		2.13384e-23	2.5992e-23	0.003610	1	0
NMUR2	56923	broad.mit.edu	37	5	151777644	151777644	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:151777644C>T	uc003luv.2	-	1	954	c.788G>A	c.(787-789)aGa>aAa	p.R263K		NM_020167	NP_064552	Q9GZQ4	NMUR2_HUMAN	Homo sapiens neuromedin U receptor 2 (NMUR2), mRNA.	263					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction	integral to membrane|plasma membrane	GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	44		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)			GACTGATTTTCTGCAGGGTCT	0.378000														48			15		0	0	0.006122	0	0
SCN4A	6329	broad.mit.edu	37	17	62034811	62034811	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:62034811G>A	uc002jds.1	-	12	2164	c.2087C>T	c.(2086-2088)tCa>tTa	p.S696L		NM_000334	NP_000325	P35499	SCN4A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IV, alpha subunit (SCN4A), mRNA.	696					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	CGCCCCCACTGAATTGCCAAT	0.577000														16			7		0	0	0.001984	0	0
PDILT	204474	broad.mit.edu	37	16	20384443	20384443	+	Splice_Site	SNP	C	T	T	rs78666211		TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:20384443C>T	uc002dhc.1	-	6	905	c.682_splice	c.e6-1	p.G228_splice		NM_174924	NP_777584	Q8N807	PDILT_HUMAN	Homo sapiens protein disulfide isomerase-like, testis expressed (PDILT), mRNA.	228					cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity	p.G228V(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						CACAATTTTTCCCTTGTACAA	0.343000														55			28		0	0	0.007291	0	0
KCNT1	57582	broad.mit.edu	37	9	138662853	138662853	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:138662853G>A	uc011mdq.2	+	17	1994	c.1920G>A	c.(1918-1920)gaG>gaA	p.E640E	KCNT1_uc011mdr.2_Silent_p.E467E|KCNT1_uc010nbf.3_Silent_p.E595E|KCNT1_uc004cgo.1_Silent_p.E389E	NM_020822	NP_065873	B7ZVY4	B7ZVY4_HUMAN	Homo sapiens potassium channel, subfamily T, member 1 (KCNT1), mRNA.	640						membrane	binding|calcium-activated potassium channel activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		TCAAGCAGGAGGAGAAGCGGA	0.647000														21			7		0	0	0.001984	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84561591	84561591	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:84561591C>G	uc002bjz.4	+	12	1642	c.1418C>G	c.(1417-1419)aCt>aGt	p.T473S	ADAMTSL3_uc010bmt.1_Missense_Mutation_p.T473S	NM_207517	NP_997400	P82987	ATL3_HUMAN	Homo sapiens ADAMTS-like 3 (ADAMTSL3), mRNA.	473						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			GTTATGCAAACTTGTAATCTG	0.418000														33			18		0	0	0.002299	0	0
LRP10	26020	broad.mit.edu	37	14	23346497	23346497	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:23346497C>T	uc001whd.3	+	6	2456	c.1903C>T	c.(1903-1905)Cct>Tct	p.P635S	LRP10_uc001whe.3_Intron	NM_014045	NP_054764	Q7Z4F1	LRP10_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 10 (LRP10), mRNA.	635	Pro-rich.				endocytosis	coated pit|integral to membrane				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2)	32	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.00549)		CACTACTGTCCCTGAAGCCCC	0.682000														54			15		0	0	0.004990	0	0
KIR3DL2	3812	broad.mit.edu	37	19	55325198	55325198	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:55325198G>A	uc010yfl.2	+	7	957	c.924_splice	c.e7+1	p.E308_splice	KIR3DL2_uc010yfj.2_Intron|KIR3DL2_uc010yfk.1_Intron|KIR3DL2_uc021vbm.1_Intron|KIR3DL2_uc002qhf.3_Splice_Site_p.E141_splice|KIR3DL2_uc002qhg.3_Splice_Site_p.E253_splice|KIR3DL2_uc002qhi.3_Splice_Site|KIR3DL2_uc021vbn.1_Splice_Site|KIR3DL2_uc002qhh.3_Splice_Site_p.E158_splice|KIR3DL2_uc002qhj.3_Splice_Site_p.E236_splice|KIR3DL2_uc010esd.3_Intron|KIR3DL2_uc010ese.3_Splice_Site|KIR3DL2_uc010esf.3_5'Flank|KIR3DL2_uc021vbo.1_5'Flank|KIR3DL2_uc002qhk.4_5'Flank|KIR3DL2_uc002qhl.4_5'Flank	NM_002255	NP_002246	P43630	KI3L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4 (KIR2DL4), transcript variant 1, mRNA.	386					cellular defense response|regulation of immune response	integral to plasma membrane	receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	23				GBM - Glioblastoma multiforme(193;0.0192)		GAACAGGGAGGTAGGTCCTCC	0.517000														17			20		0	0	0.002780	0	0
ASIC3	9311	broad.mit.edu	37	7	150749751	150749751	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:150749751G>C	uc003wio.2	+	10	1996	c.1628G>C	c.(1627-1629)tGt>tCt	p.C543S	ASIC3_uc003win.2_3'UTR|ASIC3_uc003wip.2_Missense_Mutation_p.V517L|ASIC3_uc003wiq.2_Non-coding_Transcript	NM_020321	NP_064717	Q9UHC3	ACCN3_HUMAN	Homo sapiens amiloride-sensitive cation channel 3 (ACCN3), transcript variant 2, mRNA.	527					sensory perception|signal transduction	cytoplasm|integral to plasma membrane	ligand-gated sodium channel activity										CCTGCTGTCTGTGTCCTCGGA	0.587000														95			26		0	0	0.004656	0	0
NR3C2	4306	broad.mit.edu	37	4	149356726	149356726	+	Silent	SNP	T	C	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:149356726T>C	uc003ilj.4	-	1	1650	c.1287A>G	c.(1285-1287)caA>caG	p.Q429Q	NR3C2_uc003ilk.4_Silent_p.Q429Q|NR3C2_uc010iph.3_Non-coding_Transcript	NM_000901	NP_000892	P08235	MCR_HUMAN	Homo sapiens nuclear receptor subfamily 3, group C, member 2 (NR3C2), transcript variant 1, mRNA.	429	Modulating.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)	TGGTTGATTCTTGCTTTATTG	0.383000														44			35		0	0	0.003755	0	0
BV13S6J2.1	0	broad.mit.edu	37	7	142251101	142251101	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:142251101G>A	uc011ksa.2	-	0	52	c.37C>T	c.(37-39)Ctc>Ttc	p.L13F	TRBV5-1_uc011krr.1_Intron|BV13S6J2.1_uc011krx.2_Missense_Mutation_p.L13F|BV13S6J2.1_uc022ano.1_5'Flank|BV13S6J2.1_uc011ksf.2_Missense_Mutation_p.L13F					SubName: Full=BV13S1J2.7 protein; Flags: Fragment;																		GCCCACAGGAGAGAAAAGGCC	0.542000														38			19		0	0	0.001523	0	0
OR2B6	26212	broad.mit.edu	37	6	27925786	27925786	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:27925786C>T	uc011dkx.2	+	0	768	c.768C>T	c.(766-768)gtC>gtT	p.V256V		NM_012367	NP_036499	P58173	OR2B6_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily B, member 6 (OR2B6), mRNA.	256					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GTACAGCCGTCTCTGTGTACC	0.458000														75			34		0	0	0.003755	0	0
GLI3	2737	broad.mit.edu	37	7	42004228	42004228	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:42004228G>A	uc011kbh.2	-	14	4534	c.4443C>T	c.(4441-4443)tcC>tcT	p.S1481S	GLI3_uc011kbg.2_Silent_p.S1422S	NM_000168	NP_000159	P10071	GLI3_HUMAN	Homo sapiens GLI family zinc finger 3 (GLI3), mRNA.	1481					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						TAGCACCTGGGGAAAGTAACT	0.532000									Pallister-Hall syndrome;Greig Cephalopolysyndactyly					30			6		0	0	0.001984	0	0
CNKSR1	10256	broad.mit.edu	37	1	26508373	26508373	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:26508373T>A	uc001bln.4	+	3	476	c.418T>A	c.(418-420)Ttc>Atc	p.F140I	CNKSR1_uc010oex.1_Non-coding_Transcript|CNKSR1_uc001blm.4_Missense_Mutation_p.F140I|CNKSR1_uc009vsd.3_5'UTR|CNKSR1_uc009vse.3_5'UTR	NM_006314	NP_006305	Q969H4	CNKR1_HUMAN	Homo sapiens connector enhancer of kinase suppressor of Ras 1 (CNKSR1), transcript variant 1, mRNA.	140	CRIC.				Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cell cortex|cell-cell junction	protein binding, bridging			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	28		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)		CTTAAATGATTTCTCAGCATG	0.512000														62			14		0	0	0.004990	0	0
CD48	962	broad.mit.edu	37	1	160648891	160648891	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:160648891C>T	uc001fwn.3	-	3	715	c.683G>A	c.(682-684)aGt>aAt	p.S228N		NM_001778	NP_001769	P09326	CD48_HUMAN	Homo sapiens CD48 molecule (CD48), transcript variant 1, mRNA.	228					blood coagulation|defense response|leukocyte migration	integral to plasma membrane|membrane raft	protein binding			breast(2)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|stomach(1)	10	all_cancers(52;2.18e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			CACTAGCCAACTTGCAATCCA	0.453000														59			31		0	0	0.003271	0	0
LGR5	8549	broad.mit.edu	37	12	71977872	71977872	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:71977872C>T	uc001swl.3	+	17	2130	c.2082C>T	c.(2080-2082)acC>acT	p.T694T	LGR5_uc001swm.3_Silent_p.T670T|LGR5_uc021rar.1_Silent_p.T622T|LGR5_uc001swn.1_Intron	NM_003667	NP_003658	O75473	LGR5_HUMAN	Homo sapiens leucine-rich repeat containing G protein-coupled receptor 5 (LGR5), mRNA.	694						integral to plasma membrane	protein-hormone receptor activity		NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						TGGCCTTGACCATGGCCGCAG	0.537000														282			98		0	0	0.003610	0	0
CTNND2	1501	broad.mit.edu	37	5	11159783	11159783	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:11159783G>A	uc003jfa.1	-	11	2209	c.2064C>T	c.(2062-2064)atC>atT	p.I688I	CTNND2_uc010itt.2_Silent_p.I597I|CTNND2_uc011cmy.1_Silent_p.I351I|CTNND2_uc011cmz.1_Silent_p.I255I|CTNND2_uc010itu.1_Non-coding_Transcript|CTNND2_uc011cmx.1_Silent_p.I255I	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	Homo sapiens catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein) (CTNND2), mRNA.	688					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						CTGAGTGGGGGATAATCACCG	0.527000														87			29		0	0	0.002096	0	0
SPAM1	6677	broad.mit.edu	37	7	123594488	123594488	+	Silent	SNP	T	G	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:123594488T>G	uc003vle.3	+	2	1303	c.864T>G	c.(862-864)gtT>gtG	p.V288V	SPAM1_uc011koa.1_5'Flank|SPAM1_uc003vld.3_Silent_p.V288V|SPAM1_uc022aks.1_Silent_p.V288V|SPAM1_uc003vlf.4_Silent_p.V288V|SPAM1_uc010lku.3_Silent_p.V288V	NM_003117	NP_003108	P38567	HYALP_HUMAN	Homo sapiens sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding) (SPAM1), transcript variant 1, mRNA.	288					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	p.R287T(1)		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)	CCATCAGAGTTTCCAAAATAC	0.403000														22			11		0	0	0.000978	0	0
CRYGN	155051	broad.mit.edu	37	7	151133364	151133364	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:151133364C>T	uc003wke.3	-	2	414	c.318G>A	c.(316-318)acG>acA	p.T106T	CRYGN_uc003wkf.3_Intron|CRYGN_uc003wkg.3_Non-coding_Transcript|CRYGN_uc010lqd.1_Non-coding_Transcript|MIR3907_uc022aqe.1_5'Flank	NM_144727	NP_653328	Q8WXF5	CRGN_HUMAN	Homo sapiens crystallin, gamma N (CRYGN), mRNA.	106	Beta/gamma crystallin 'Greek key' 3.									central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(1)|lung(4)	8			OV - Ovarian serous cystadenocarcinoma(82;0.00358)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGCACTGGCCCGTGAAGTTGC	0.547000														42			5		0	0	0.001168	0	0
AFAP1L1	134265	broad.mit.edu	37	5	148709325	148709325	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:148709325T>C	uc003lqh.3	+	15	2038	c.1907T>C	c.(1906-1908)aTt>aCt	p.I636T	AFAP1L1_uc010jgy.3_Missense_Mutation_p.I636T|AFAP1L1_uc003lqi.2_Missense_Mutation_p.I251T	NM_152406	NP_689619	Q8TED9	AF1L1_HUMAN	Homo sapiens actin filament associated protein 1-like 1 (AFAP1L1), transcript variant 1, mRNA.	636							protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAAGAGACGATTCGGACAGAG	0.522000														18			13		0	0	0.002450	0	0
F8	2157	broad.mit.edu	37	X	154159078	154159078	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chrX:154159078C>T	uc004fmt.3	-	13	3158	c.2987G>A	c.(2986-2988)aGa>aAa	p.R996K		NM_000132	NP_000123	P00451	FA8_HUMAN	Homo sapiens coagulation factor VIII, procoagulant component (F8), transcript variant 1, mRNA.	996	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)	TCCATGAGCTCTTTTCCCTTT	0.338000														16			43		0	0	0.002522	0	0
NLRP14	338323	broad.mit.edu	37	11	7063775	7063775	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:7063775G>A	uc001mfb.1	+	3	841	c.518G>A	c.(517-519)gGt>gAt	p.G173D		NM_176822	NP_789792	Q86W24	NAL14_HUMAN	Homo sapiens NLR family, pyrin domain containing 14 (NLRP14), mRNA.	173					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding	p.T172T(1)		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)		GTCAAAACCGGTGCACAGCCA	0.473000														57			27		0	0	0.007291	0	0
ZDHHC14	79683	broad.mit.edu	37	6	157963732	157963732	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:157963732C>T	uc003qqt.3	+	1	858	c.361C>T	c.(361-363)Cca>Tca	p.P121S	ZDHHC14_uc003qqs.3_Missense_Mutation_p.P121S|ZDHHC14_uc010kjm.1_Missense_Mutation_p.P16S	NM_024630	NP_078906	Q8IZN3	ZDH14_HUMAN	Homo sapiens zinc finger, DHHC-type containing 14 (ZDHHC14), transcript variant 1, mRNA.	121						integral to membrane	acyltransferase activity|zinc ion binding	p.P121S(2)		central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	17		Breast(66;0.00586)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;2.9e-17)|BRCA - Breast invasive adenocarcinoma(81;5.8e-05)		CGGAGTCCTCCCACGAGCCAC	0.602000														9			7		0	0	0.001984	0	0
UVRAG	7405	broad.mit.edu	37	11	75727929	75727929	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:75727929C>T	uc001oxc.3	+	11	1372	c.1131C>T	c.(1129-1131)ttC>ttT	p.F377F	UVRAG_uc010rrw.2_Silent_p.F276F|UVRAG_uc001oxd.3_Silent_p.F5F|UVRAG_uc010rrx.2_Silent_p.F5F|UVRAG_uc009yuh.1_Non-coding_Transcript	NM_003369	NP_003360	Q9P2Y5	UVRAG_HUMAN	Homo sapiens UV radiation resistance associated gene (UVRAG), mRNA.	377					DNA repair|positive regulation of autophagy	early endosome|late endosome|lysosome	protein binding			central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(15)|skin(5)|urinary_tract(2)	32						TTTCCTTTTTCCTACAAGTGC	0.388000														91			43		0	0	0.002222	0	0
AADAT	51166	broad.mit.edu	37	4	171009684	171009684	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:171009684C>T	uc003isr.3	-	1	441	c.99G>A	c.(97-99)atG>atA	p.M33I	AADAT_uc003iss.3_Missense_Mutation_p.M33I|AADAT_uc003ist.3_Missense_Mutation_p.M37I	NM_016228	NP_872603	Q8N5Z0	AADAT_HUMAN	Homo sapiens aminoadipate aminotransferase (AADAT), transcript variant 1, mRNA.	33					2-oxoglutarate metabolic process|biosynthetic process|glutamate metabolic process|lysine catabolic process	mitochondrial matrix	2-aminoadipate transaminase activity|kynurenine-oxoglutarate transaminase activity|protein homodimerization activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|pancreas(1)|stomach(1)	11		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)		GBM - Glioblastoma multiforme(119;0.0355)|LUSC - Lung squamous cell carcinoma(193;0.118)	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	CCAAGGAGATCATCGATTTTG	0.388000														51			28		0	0	0.002096	0	0
MUC16	94025	broad.mit.edu	37	19	9071269	9071269	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:9071269G>A	uc002mkp.3	-	2	16381	c.16177C>T	c.(16177-16179)Cca>Tca	p.P5393S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	5395	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						CTCAAATTTGGAGGTGAACTG	0.507000														212			75		0	0	0.003610	0	0
CTC1	80169	broad.mit.edu	37	17	8133691	8133691	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:8133691C>T	uc002gkq.4	-	16	2913	c.2854G>A	c.(2854-2856)Gac>Aac	p.D952N	CTC1_uc010cnv.3_Non-coding_Transcript	NM_025099	NP_079375	Q2NKJ3	CTC1_HUMAN	Homo sapiens CTS telomere maintenance complex component 1 (CTC1), mRNA.	952					positive regulation of DNA replication|telomere maintenance	Stn1-Ten1 complex	protein binding|single-stranded DNA binding			NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						AAGTGTGGGTCTTCTATATAT	0.517000														24			14		0	0	0.003163	0	0
KRT12	3859	broad.mit.edu	37	17	39022967	39022967	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:39022967G>A	uc002hvk.2	-	0	496	c.472C>T	c.(472-474)Cga>Tga	p.R158*		NM_000223	NP_000214	Q99456	K1C12_HUMAN	Homo sapiens keratin 12 (KRT12), mRNA.	158	Coil 1A.|Rod.				visual perception	intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	15		Breast(137;0.000301)				TACCATTCTCGAATTTTATTT	0.388000														96			26		0	0	0.003954	0	0
LHFP	10186	broad.mit.edu	37	13	39952608	39952608	+	Silent	SNP	T	C	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr13:39952608T>C	uc001uxf.3	-	2	952	c.441A>G	c.(439-441)gaA>gaG	p.E147E		NM_005780	NP_005771	Q9Y693	LHFP_HUMAN	Homo sapiens lipoma HMGIC fusion partner (LHFP), mRNA.	147						integral to membrane	DNA binding		HMGA2/LHFP(2)	breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(6)|prostate(2)	13		Lung NSC(96;3.55e-06)|Breast(139;0.00408)|Ovarian(182;0.0107)|Prostate(109;0.0118)|Lung SC(185;0.0719)|Hepatocellular(188;0.114)		OV - Ovarian serous cystadenocarcinoma(117;6.48e-46)|Epithelial(112;8.43e-42)|all cancers(112;1.42e-36)|GBM - Glioblastoma multiforme(144;0.00187)|BRCA - Breast invasive adenocarcinoma(63;0.00886)|KIRC - Kidney renal clear cell carcinoma(186;0.048)|Kidney(163;0.0601)|LUSC - Lung squamous cell carcinoma(192;0.105)		TCTGCCGGACTTCCTCACTGT	0.498000			T	HMGA2	lipoma									57			25		0	0	0.002096	0	0
GOLGA8IP	283796	broad.mit.edu	37	15	23259509	23259509	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:23259509A>G	uc001yvh.1	+	4	661	c.119A>G	c.(118-120)aAc>aGc	p.N40S	DQ600342_uc001yvi.3_5'Flank|DQ582939_uc021sfm.1_5'Flank					Homo sapiens golgin A8 family, member I, pseudogene (GOLGA8IP), non-coding RNA.											endometrium(1)|lung(2)|prostate(1)	4						AAGAAAGCAAACATCAAGAAA	0.517000														3			7		0	0	0.003080	0	0
WDR93	56964	broad.mit.edu	37	15	90280894	90280894	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:90280894C>T	uc002boj.3	+	14	1800	c.1699C>T	c.(1699-1701)Cct>Tct	p.P567S	WDR93_uc010bnr.3_Missense_Mutation_p.P539S|WDR93_uc010upz.2_Missense_Mutation_p.P284S	NM_020212	NP_064597	Q6P2C0	WDR93_HUMAN	Homo sapiens WD repeat domain 93 (WDR93), mRNA.	567					electron transport chain	mitochondrial inner membrane	oxidoreductase activity, acting on NADH or NADPH			NS(1)|breast(3)|endometrium(2)|kidney(4)|large_intestine(5)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	33	Lung NSC(78;0.0237)|all_lung(78;0.0478)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128)			GGGAGCCTTTCCTCTGGAGGT	0.557000														53			5		0	0	0.001168	0	0
CACNA1S	779	broad.mit.edu	37	1	201030530	201030530	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:201030530C>T	uc001gvv.3	-	24	3347	c.3120G>A	c.(3118-3120)gaG>gaA	p.E1040E		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1S subunit (CACNA1S), mRNA.	1040	Dihydropyridine binding (By similarity).				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)	AGATGGCCATCTCCACACGGT	0.527000														68			25		0	0	0.007291	0	0
SCGB1D2	10647	broad.mit.edu	37	11	62010789	62010789	+	Silent	SNP	T	G	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:62010789T>G	uc001ntb.3	+	1	140	c.84T>G	c.(82-84)gtT>gtG	p.V28V		NM_006551	NP_006542	O95969	SG1D2_HUMAN	Homo sapiens secretoglobin, family 1D, member 2 (SCGB1D2), mRNA.	28						extracellular space	binding	p.L27H(1)		breast(1)|endometrium(1)|lung(1)	3						CAGCTCTTGTTTCTGAGCTGT	0.433000														53			14		0	0	0.003163	0	0
NLGN4Y	22829	broad.mit.edu	37	Y	16952312	16952312	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chrY:16952312C>T	uc011nas.1	+	6	1860	c.1681C>T	c.(1681-1683)Cct>Tct	p.P561S	NLGN4Y_uc004fte.2_Missense_Mutation_p.P373S|NLGN4Y_uc004ftg.2_Missense_Mutation_p.P541S|NLGN4Y_uc004ftf.2_Missense_Mutation_p.P234S|NLGN4Y_uc004fth.2_Missense_Mutation_p.P541S	NM_001206850	NP_001193779	Q8NFZ3	NLGNY_HUMAN	Homo sapiens neuroligin 4, Y-linked (NLGN4Y), transcript variant 3, mRNA.	541					brainstem development|cell adhesion|cerebellum development|male courtship behavior|positive regulation of organ growth|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|integral to plasma membrane|synapse	neurexin binding|receptor activity			large_intestine(3)|lung(7)|prostate(2)|skin(2)	14						CCAACCAGTTCCTCAGGATAC	0.388000														19			10		0	0	0.008291	0	0
MANEAL	149175	broad.mit.edu	37	1	38265299	38265299	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:38265299C>T	uc001cby.2	+	3	879	c.798C>T	c.(796-798)ctC>ctT	p.L266L	MANEAL_uc001cbx.2_Intron|MANEAL_uc001cbz.2_Silent_p.L44L	NM_001113482	NP_001106954	Q5VSG8	MANEL_HUMAN	Homo sapiens mannosidase, endo-alpha-like (MANEAL), transcript variant 3, mRNA.	266						Golgi membrane|integral to membrane	hydrolase activity			endometrium(1)|large_intestine(1)|liver(1)|lung(1)|prostate(3)	7	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				GCCTCCCACTCTTTTATATCT	0.557000														74			31		0	0	0.003271	0	0
LILRB5	10990	broad.mit.edu	37	19	54754901	54754901	+	Silent	SNP	T	C	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:54754901T>C	uc010yer.1	-	12	1845	c.1734A>G	c.(1732-1734)gcA>gcG	p.A578A	LILRB3_uc002qew.2_Intron|LILRB5_uc002qey.3_Intron|LILRB5_uc002qez.3_Intron|LILRB5_uc002qex.3_Intron|LILRB5_uc002qfa.1_3'UTR			O75023	LIRB5_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5 (LILRB5), transcript variant 1, mRNA.	378					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)		TGTCCTCTTCTGCCTGTCTGT	0.587000														17			3		0	0	0.001984	0	0
C10orf68	79741	broad.mit.edu	37	10	33018286	33018286	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:33018286G>A	uc001iwm.1	+	7	891	c.655G>A	c.(655-657)Gat>Aat	p.D219N	C10orf68_uc001iwl.1_Missense_Mutation_p.D251N|C10orf68_uc001iwn.4_Missense_Mutation_p.D243N|C10orf68_uc010qei.1_Missense_Mutation_p.D155N|C10orf68_uc001iwo.4_Non-coding_Transcript	NM_024688	NP_078964	Q9H943	CJ068_HUMAN	Homo sapiens chromosome 10 open reading frame 68 (C10orf68), mRNA.	243										breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(4)	29						CAAAAAAAAGGATATATCACT	0.323000														50			14		0	0	0.003163	0	0
LRP1	4035	broad.mit.edu	37	12	57600439	57600439	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:57600439C>T	uc001snd.3	+	75	12240	c.11774C>T	c.(11773-11775)tCc>tTc	p.S3925F		NM_002332	NP_002323	Q07954	LRP1_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	3925					aorta morphogenesis|apoptotic cell clearance|negative regulation of Wnt receptor signaling pathway|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GGCACCATCTCCTACCGCAGC	0.607000														34			15		0	0	0.006122	0	0
IRF3	3661	broad.mit.edu	37	19	50165465	50165465	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:50165465C>T	uc002poy.2	-	4	1741	c.722G>A	c.(721-723)tGg>tAg	p.W241*	IRF3_uc021uxp.1_Nonsense_Mutation_p.W95*|IRF3_uc021uxq.1_Nonsense_Mutation_p.W95*|IRF3_uc002pot.2_Intron|IRF3_uc021uxr.1_Intron|IRF3_uc021uxs.1_Intron|IRF3_uc002pow.3_Nonsense_Mutation_p.W241*|IRF3_uc021uxo.1_Nonsense_Mutation_p.W206*|IRF3_uc002pou.3_Nonsense_Mutation_p.W241*|IRF3_uc010end.2_Nonsense_Mutation_p.W241*|IRF3_uc002poz.1_Nonsense_Mutation_p.W241*|BCL2L12_uc002ppa.3_5'Flank|BCL2L12_uc002ppb.3_5'Flank	NM_001197126	NP_001184055	Q14653	IRF3_HUMAN	Homo sapiens interferon regulatory factor 3 (IRF3), transcript variant 6, mRNA.	241	Involved in HERC5 binding.				MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|negative regulation of type I interferon production|response to virus|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|endosome membrane|nucleoplasm|plasma membrane	DNA binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			breast(1)|large_intestine(2)|lung(4)|ovary(2)|stomach(1)	10		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.02)		TGTGACTGGCCATCCAGGCAG	0.657000														35			13		0	0	0.001368	0	0
UGT2B11	10720	broad.mit.edu	37	4	70080196	70080196	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:70080196G>A	uc003heh.3	-	0	254	c.245C>T	c.(244-246)aCt>aTt	p.T82I	AK124272_uc003hei.1_Non-coding_Transcript	NM_001073	NP_001064	O75310	UDB11_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B11 (UGT2B11), mRNA.	82					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						TTCAGTTTTAGTTAAAGATGT	0.348000														88			20		0	0	0.002299	0	0
FLG	2312	broad.mit.edu	37	1	152283876	152283876	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:152283876C>T	uc001ezu.1	-	2	3522	c.3486G>A	c.(3484-3486)caG>caA	p.Q1162Q	AK056431_uc001ezv.3_5'Flank	NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	1162	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAATGGTGTCCTGACCCTCTT	0.607000									Ichthyosis					201			111		0	0	0.003610	0	0
CLVS1	157807	broad.mit.edu	37	8	62212800	62212800	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:62212800G>A	uc003xuh.3	+	1	738	c.414G>A	c.(412-414)agG>agA	p.R138R	CLVS1_uc003xug.2_Silent_p.R138R|CLVS1_uc003xui.3_Intron	NM_173519	NP_775790	Q8IUQ0	CLVS1_HUMAN	Homo sapiens clavesin 1 (CLVS1), mRNA.	138	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						ATTACGGCAGGAAGATTCTTT	0.448000														30			12		0	0	0.001855	0	0
TMEM200A	114801	broad.mit.edu	37	6	130762546	130762546	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:130762546C>T	uc003qcb.3	+	1	3357	c.979C>T	c.(979-981)Ctt>Ttt	p.L327F	TMEM200A_uc003qca.3_Missense_Mutation_p.L327F|TMEM200A_uc010kfh.3_Missense_Mutation_p.L327F|TMEM200A_uc010kfi.3_Missense_Mutation_p.L327F|TMEM200A_uc021zfg.1_Missense_Mutation_p.L327F	NM_052913	NP_443145	Q86VY9	T200A_HUMAN	Homo sapiens transmembrane protein 200A (TMEM200A), mRNA.	327						integral to membrane				NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		AATGGATTCCCTTGTGGTTCC	0.438000														33			14		0	0	0.004007	0	0
CPNE7	27132	broad.mit.edu	37	16	89645382	89645382	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:89645382A>T	uc002fnp.3	+	2	605	c.475A>T	c.(475-477)Acg>Tcg	p.T159S	CPNE7_uc002fnq.3_Intron	NM_014427	NP_055242	Q9UBL6	CPNE7_HUMAN	Homo sapiens copine VII (CPNE7), transcript variant 2, mRNA.	159					lipid metabolic process		transporter activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)	17		all_hematologic(23;0.0748)		all cancers(4;3.63e-08)|OV - Ovarian serous cystadenocarcinoma(4;1.7e-06)|BRCA - Breast invasive adenocarcinoma(80;0.0147)		CCTTGCCAGGACGGGTCCTTC	0.552000														32			5		0	0	0.001168	0	0
OR4M2	390538	broad.mit.edu	37	15	22369509	22369509	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:22369509G>A	uc010tzu.2	+	0	1032	c.934G>A	c.(934-936)Gag>Aag	p.E312K	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.	312					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.K311*(1)		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)		TTTGTGTAAAGAGAAGTGAAA	0.343000														33			7		0	0	0.001984	0	0
RTL1	388015	broad.mit.edu	37	14	101349378	101349378	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:101349378C>T	uc010txj.1	-	0	1807	c.1748G>A	c.(1747-1749)gGa>gAa	p.G583E	MIR127_uc001yig.3_Non-coding_Transcript|MIR432_uc021sce.1_5'Flank|MIR136_uc010txk.1_5'Flank	NM_001134888	NP_001128360	E9PKS8	E9PKS8_HUMAN	Homo sapiens retrotransposon-like 1 (RTL1), mRNA.	583										breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						ATCATCGGATCCGTCTGAGCT	0.567000														43			25		0	0	0.002445	0	0
RELN	5649	broad.mit.edu	37	7	103124178	103124178	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:103124178C>T	uc022ajr.1	-	61	10263	c.10103G>A	c.(10102-10104)gGg>gAg	p.G3368E	RELN_uc022ajq.1_Missense_Mutation_p.G3368E|RELN_uc010liz.3_Missense_Mutation_p.G3368E	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	3368					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)		CCAGGTGATCCCGTTGTTGAC	0.557000														93			33		0	0	0.003271	0	0
CD163	9332	broad.mit.edu	37	12	7640255	7640255	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:7640255G>A	uc001qsz.3	-	7	1878	c.1750C>T	c.(1750-1752)Cgc>Tgc	p.R584C	CD163_uc001qta.3_Missense_Mutation_p.R584C|CD163_uc009zfw.2_Missense_Mutation_p.R617C	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	Homo sapiens CD163 molecule (CD163), transcript variant 1, mRNA.	584	SRCR 6.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity	p.R584C(2)		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						TTCACCAAGCGAATTTCTGTG	0.488000														46			27		0	0	0.007291	0	0
GJB4	127534	broad.mit.edu	37	1	35227594	35227594	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:35227594G>A	uc001bxw.4	+	0	739	c.739G>A	c.(739-741)Gat>Aat	p.D247N	GJB4_uc001bxv.1_Missense_Mutation_p.D247N	NM_153212	NP_694944	Q9NTQ9	CXB4_HUMAN	Homo sapiens gap junction protein, beta 4, 30.3kDa (GJB4), mRNA.	247					cell communication	connexon complex|integral to membrane	gap junction channel activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				GCACCCTGAGGATGGGAACTC	0.617000														25			10		0	0	0.008291	0	0
KIAA0100	9703	broad.mit.edu	37	17	26965064	26965064	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:26965064G>A	uc002hbu.3	-	13	1664	c.1561C>T	c.(1561-1563)Ctt>Ttt	p.L521F		NM_014680	NP_055495	Q14667	K0100_HUMAN	Homo sapiens KIAA0100 (KIAA0100), mRNA.	521						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)					TCAAGAAAAAGGGTATCTGAC	0.493000														19			19		0	0	0.008871	0	0
GRIK1	2897	broad.mit.edu	37	21	30953850	30953850	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr21:30953850C>T	uc002yno.1	-	12	2271	c.1807G>A	c.(1807-1809)Gag>Aag	p.E603K	GRIK1_uc002ynn.3_Missense_Mutation_p.E588K|GRIK1_uc011acs.2_Missense_Mutation_p.E603K|GRIK1_uc011act.2_Missense_Mutation_p.E464K|GRIK1_uc010glq.1_Missense_Mutation_p.E446K	NM_000830	NP_000821	P39086	GRIK1_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 1 (GRIK1), transcript variant 1, mRNA.	603					central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					L-Glutamic Acid(DB00142)|Topiramate(DB00273)	TTATACCACTCGTAGGGTGTA	0.433000														21			22		0	0	0.003330	0	0
TPM2	7169	broad.mit.edu	37	9	35685713	35685713	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:35685713G>A	uc003zxq.3	-	2	544	c.305C>T	c.(304-306)gCc>gTc	p.A102V	TPM2_uc003zxs.3_Missense_Mutation_p.A102V|TPM2_uc010mkz.3_Missense_Mutation_p.A102V|TPM2_uc011lpa.2_Missense_Mutation_p.A102V	NM_213674	NP_998839	P07951	TPM2_HUMAN	Homo sapiens tropomyosin 2 (beta) (TPM2), transcript variant 2, mRNA.	102					muscle filament sliding|regulation of ATPase activity	cytosol|muscle thin filament tropomyosin	actin binding|structural constituent of muscle			NS(1)|breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_epithelial(49;0.121)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GCGCTCCTGGGCCCGGTCCAG	0.657000														47			38		0	0	0.005524	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140229995	140229995	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:140229995G>A	uc003lhu.2	+	0	2639	c.1915G>A	c.(1915-1917)Gaa>Aaa	p.E639K	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lht.1_Missense_Mutation_p.E639K	NM_031857	NP_114063	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 9 (PCDHA9), transcript variant 1, mRNA.	650	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)			TGCCCTGGACGAAACGGACGC	0.667000														31			20		0	0	0.002780	0	0
RPL21	6144	broad.mit.edu	37	13	27828363	27828363	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr13:27828363T>C	uc001ura.3	+	2	117	c.74T>C	c.(73-75)gTt>gCt	p.V25A	RPL21_uc001uqz.1_Intron|SNORD102_uc001urb.2_5'Flank|SNORA27_uc001urc.1_5'Flank	NM_000982	NP_000973	P46778	RL21_HUMAN	Homo sapiens ribosomal protein L21 (RPL21), mRNA.	25					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	RNA binding|structural constituent of ribosome			large_intestine(1)|lung(1)	2		Lung SC(185;0.0156)	Colorectal(13;0.00042)|READ - Rectum adenocarcinoma(15;0.105)	all cancers(112;0.0287)|OV - Ovarian serous cystadenocarcinoma(117;0.118)|Epithelial(112;0.139)|GBM - Glioblastoma multiforme(144;0.21)		GTAGGAGTTGTTCCTTTGGCC	0.284000														87			53		0	0	0.003610	0	0
SHROOM3	57619	broad.mit.edu	37	4	77691934	77691934	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:77691934G>A	uc011cbx.2	+	9	6458	c.5505G>A	c.(5503-5505)agG>agA	p.R1835R	SHROOM3_uc003hkg.3_Silent_p.R1613R	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	Homo sapiens shroom family member 3 (SHROOM3), mRNA.	1835	ASD2.				apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			ACAAGTATAGGATGTTCATAG	0.552000														71			36		0	0	0.005524	0	0
MTMR12	54545	broad.mit.edu	37	5	32230172	32230172	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:32230172G>A	uc003jhq.3	-	15	2126	c.1956C>T	c.(1954-1956)atC>atT	p.I652I	MTMR12_uc010iuk.3_Silent_p.I598I|MTMR12_uc010iul.3_Silent_p.I542I	NM_001040446	NP_001035536	Q9C0I1	MTMRC_HUMAN	Homo sapiens myotubularin related protein 12 (MTMR12), mRNA.	652						cytoplasm	phosphatase activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						CACCACCTAGGATTTGGGCTT	0.522000														133			41		0	0	0.002852	0	0
EXPH5	23086	broad.mit.edu	37	11	108383402	108383402	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:108383402C>T	uc001pkk.3	-	5	2943	c.2832G>A	c.(2830-2832)gaG>gaA	p.E944E	EXPH5_uc010rvz.2_Silent_p.E788E|EXPH5_uc010rvy.2_Silent_p.E756E	NM_015065	NP_055880	Q149M6	Q149M6_HUMAN	Homo sapiens exophilin 5 (EXPH5), mRNA.	944					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)		TATCATTTCTCTCTTGGTTTT	0.393000														144			57		0	0	0.003610	0	0
HEATR7B2	133558	broad.mit.edu	37	5	41019062	41019062	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:41019062G>A	uc003jmj.4	-	24	2990	c.2500C>T	c.(2500-2502)Cgg>Tgg	p.R834W	HEATR7B2_uc003jmi.4_Missense_Mutation_p.R389W	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	834							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						AGCAGCCTCCGAATATTCTCC	0.463000														28			12		0	0	0.001855	0	0
TTN	7273	broad.mit.edu	37	2	179434595	179434595	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:179434595C>T	uc021vsy.1	-	274	68785	c.68560G>A	c.(68560-68562)Gta>Ata	p.V22854I	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.V16549I|TTN_uc021vta.1_Missense_Mutation_p.V16482I|TTN_uc021vtb.1_Missense_Mutation_p.V16357I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	23781	Ig-like 117.						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)			GAAAGGAATACTGAAGATCTG	0.408000														59			20		0	0	0.002299	0	0
RIMKLB	57494	broad.mit.edu	37	12	8926281	8926282	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:8926281_8926282CC>TT	uc001qux.2	+	6	2324_2325	c.1062_1063CC>TT	c.(1060-1065)gaccct>gaTTct	p.P355S	RIMKLB_uc009zgf.2_Intron|RIMKLB_uc010sgl.1_Missense_Mutation_p.P355S|RIMKLB_uc001quw.2_Intron	NM_020734	NP_065785	Q9ULI2	RIMKB_HUMAN	Homo sapiens ribosomal modification protein rimK-like family member B (RIMKLB), mRNA.	355					protein modification process	cytoplasm	ATP binding|acid-amino acid ligase activity|metal ion binding			central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						TTGACAGCGACCCTGAAAGCAC	0.564000														89			24		0	0	0.004672	0	0
CDSN	1041	broad.mit.edu	37	6	31084658	31084658	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:31084658G>A	uc003nsm.2	-	1	790	c.734C>T	c.(733-735)tCt>tTt	p.S245F	PSORS1C1_uc003nsl.2_Intron|PSORS1C1_uc010jsj.2_Intron	NM_001264	NP_001255	Q15517	CDSN_HUMAN	Homo sapiens corneodesmosin (CDSN), mRNA.	245	Ser-rich.				cell-cell adhesion|keratinocyte differentiation|skin morphogenesis	cornified envelope|desmosome|extracellular region	protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)	10						CCCTGACACAGAGTGGGAGCT	0.642000														32			9		0	0	0.004482	0	0
MGAM	8972	broad.mit.edu	37	7	141736637	141736637	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:141736637C>T	uc003vwy.3	+	17	2145	c.2091C>T	c.(2089-2091)gcC>gcT	p.A697A		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	697	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	AGGATCCTGCCTCCTTTGGAG	0.502000														122			54		0	0	0.003610	0	0
CD1C	911	broad.mit.edu	37	1	158262052	158262052	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:158262052G>A	uc001fru.3	+	2	799	c.507G>A	c.(505-507)caG>caA	p.Q169Q	CD1C_uc021pbl.1_5'Flank	NM_001765	NP_001756	P29017	CD1C_HUMAN	Homo sapiens CD1c molecule (CD1C), mRNA.	169					T cell activation involved in immune response|antigen processing and presentation	endosome membrane|integral to plasma membrane	endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding			NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39	all_hematologic(112;0.0378)					TCAATCATCAGTATGAAGGCG	0.458000														192			85		0	0	0.003610	0	0
AHNAK2	113146	broad.mit.edu	37	14	105414017	105414017	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:105414017G>A	uc010axc.1	-	6	7891	c.7771C>T	c.(7771-7773)Ccc>Tcc	p.P2591S	AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Missense_Mutation_p.P2491S	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	2591						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)			TCCAGCTTGGGGCCCTTGACA	0.617000														118			47		0	0	0.003610	0	0
CCDC39	339829	broad.mit.edu	37	3	180378435	180378435	+	Silent	SNP	A	G	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:180378435A>G	uc010hxe.3	-	3	554	c.439T>C	c.(439-441)Tta>Cta	p.L147L	CCDC39_uc003fkn.3_Non-coding_Transcript	NM_181426	NP_852091	Q9UFE4	CCD39_HUMAN	Homo sapiens coiled-coil domain containing 39 (CCDC39), mRNA.	147					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)			GATTCTTCTAACCAGGCCTCC	0.373000														14			11		0	0	0.008291	0	0
CLEC5A	23601	broad.mit.edu	37	7	141631617	141631617	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:141631617G>A	uc003vwv.1	-	5	552	c.355C>T	c.(355-357)Cag>Tag	p.Q119*	CLEC5A_uc011krm.1_Nonsense_Mutation_p.Q96*|CLEC5A_uc003vww.1_Nonsense_Mutation_p.Q118*|CLEC5A_uc010lnq.1_Nonsense_Mutation_p.Q96*|CLEC5A_uc010lnr.1_Non-coding_Transcript	NM_013252	NP_037384	Q9NY25	CLC5A_HUMAN	Homo sapiens C-type lectin domain family 5, member A (CLEC5A), mRNA.	119	C-type lectin.				anti-apoptosis|cellular defense response|innate immune response|interspecies interaction between organisms|osteoblast development	cell surface|integral to plasma membrane	sugar binding|viral receptor activity	p.L118V(1)		endometrium(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	10	Melanoma(164;0.0171)					GTTATGTCCTGAAGAAACTTC	0.368000														43			20		0	0	0.008871	0	0
CCDC60	160777	broad.mit.edu	37	12	119926649	119926649	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:119926649G>C	uc001txe.3	+	4	1000	c.535G>C	c.(535-537)Gtg>Ctg	p.V179L	AF086288_uc001txf.3_Intron	NM_178499	NP_848594	Q8IWA6	CCD60_HUMAN	Homo sapiens coiled-coil domain containing 60 (CCDC60), mRNA.	179										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		CATGAAGCCTGTGATCACCTG	0.547000														36			19		0	0	0.001523	0	0
TMEM132B	114795	broad.mit.edu	37	12	126138696	126138696	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:126138696G>A	uc001uhe.1	+	8	2685	c.2677G>A	c.(2677-2679)Ggg>Agg	p.G893R	TMEM132B_uc001uhf.1_Missense_Mutation_p.G405R	NM_052907	NP_443139	Q14DG7	T132B_HUMAN	Homo sapiens transmembrane protein 132B (TMEM132B), mRNA.	893						integral to membrane		p.R892S(1)		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)		GACCTCAAGGGGGCTAACGGA	0.512000														40			33		0	0	0.002096	0	0
ADCY4	196883	broad.mit.edu	37	14	24791887	24791887	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:24791887C>T	uc001wow.3	-	18	2789	c.2370G>A	c.(2368-2370)ctG>ctA	p.L790L	ADCY4_uc010toh.2_Silent_p.L476L|ADCY4_uc001wox.3_Silent_p.L790L|ADCY4_uc001woy.3_Silent_p.L790L	NM_001198568	NP_001185497	Q8NFM4	ADCY4_HUMAN	Homo sapiens adenylate cyclase 4 (ADCY4), transcript variant 3, mRNA.	790					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	cytoplasm|integral to membrane|plasma membrane	ATP binding|adenylate cyclase activity|metal ion binding|protein binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		TAGCACCCATCAGTTTGGGCT	0.607000														23			11		0	0	0.002450	0	0
RGPD3	653489	broad.mit.edu	37	2	107042457	107042457	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:107042457G>A	uc010ywi.1	-	18	2750	c.2693C>T	c.(2692-2694)cCc>cTc	p.P898L		NM_001144013	NP_001137485	A6NKT7	RGPD3_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 3 (RGPD3), mRNA.	898					intracellular transport		binding			breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TACCTTTGTGGGAGTAACATT	0.313000														98			16		0	0	0.001882	0	0
MAMDC2	256691	broad.mit.edu	37	9	72724680	72724680	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:72724680C>T	uc004ahm.2	+	3	1082	c.465C>T	c.(463-465)atC>atT	p.I155I	MAMDC2_uc004ahn.2_Non-coding_Transcript	NM_153267	NP_694999	Q7Z304	MAMC2_HUMAN	Homo sapiens MAM domain containing 2 (MAMDC2), mRNA.	155	MAM 1.					endoplasmic reticulum|membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	14						CAGCCAGCATCGCACTATTTG	0.378000														75			36		0	0	0.007835	0	0
ZNF429	353088	broad.mit.edu	37	19	21720483	21720483	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:21720483G>C	uc002nqd.1	+	3	1765	c.1628G>C	c.(1627-1629)gGc>gCc	p.G543A	ZNF429_uc010ecu.2_Intron	NM_001001415	NP_001001415	Q86V71	ZN429_HUMAN	Homo sapiens zinc finger protein 429 (ZNF429), mRNA.	543					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						GAAGAATGTGGCAAAGCTTTT	0.363000														32			3		0	0	0.004672	0	0
SPATA16	83893	broad.mit.edu	37	3	172834923	172834923	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:172834923C>T	uc003fin.4	-	1	783	c.599G>A	c.(598-600)aGa>aAa	p.R200K		NM_031955	NP_114161	Q9BXB7	SPT16_HUMAN	Homo sapiens spermatogenesis associated 16 (SPATA16), mRNA.	200					cell differentiation|multicellular organismal development|spermatogenesis	Golgi apparatus	binding			breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			AAGTGCTGTTCTGAACTGTCC	0.423000														90			41		0	0	0.003610	0	0
KRT36	8689	broad.mit.edu	37	17	39645717	39645717	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:39645717G>A	uc002hwt.3	-	0	400	c.400C>T	c.(400-402)Cca>Tca	p.P134S		NM_003771	NP_003762	O76013	KRT36_HUMAN	Homo sapiens keratin 36 (KRT36), mRNA.	134	Linker 1.|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)				CAGATGTATGGGATCTGAAAC	0.582000														86			25		0	0	0.006320	0	0
MBL2	4153	broad.mit.edu	37	10	54531391	54531391	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:54531391G>A	uc001jjt.3	-	0	70	c.5C>T	c.(4-6)tCc>tTc	p.S2F		NM_000242	NP_000233	P11226	MBL2_HUMAN	Homo sapiens mannose-binding lectin (protein C) 2, soluble (MBL2), mRNA.	2					acute-phase response|complement activation, classical pathway|complement activation, lectin pathway|defense response to Gram-positive bacterium|negative regulation of growth of symbiont in host|opsonization|response to oxidative stress	collagen|extracellular space	bacterial cell surface binding|calcium-dependent protein binding|eukaryotic cell surface binding|mannose binding|receptor binding			breast(1)|endometrium(2)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21						TGGAAACAGGGACATGGTCCT	0.502000														7			5		0	0	0.000602	0	0
DCX	1641	broad.mit.edu	37	X	110654098	110654098	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chrX:110654098T>A	uc004epd.3	-	0	277	c.105A>T	c.(103-105)gaA>gaT	p.E35D	DCX_uc011msv.2_Missense_Mutation_p.E35D|DCX_uc004epe.3_Intron|DCX_uc004epf.3_Intron|DCX_uc004epg.3_Intron	NM_000555	NP_835366	O43602	DCX_HUMAN	Homo sapiens doublecortin (DCX), transcript variant 1, mRNA.	35					axon guidance|central nervous system development|intracellular signal transduction	cytosol|microtubule associated complex	microtubule binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1)	41						CCTGACAAAATTCCCCTTGAA	0.423000														41			65		0	0	0.003610	0	0
PIGO	84720	broad.mit.edu	37	9	35091309	35091309	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:35091309A>G	uc003zwd.3	-	6	2971	c.2575T>C	c.(2575-2577)Ttc>Ctc	p.F859L	PIGO_uc003zwe.3_Intron|PIGO_uc003zwf.3_Intron|PIGO_uc003zwc.1_3'UTR|PIGO_uc003zwg.2_Missense_Mutation_p.F422L	NM_032634	NP_116023	Q8TEQ8	PIGO_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class O (PIGO), transcript variant 1, mRNA.	859					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity			endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			AGAAGCAGGAACACAAGGCTG	0.522000														35			12		0	0	0.001855	0	0
TBC1D2B	23102	broad.mit.edu	37	15	78295821	78295821	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:78295821C>T	uc002bcy.4	-	10	2400	c.2400G>A	c.(2398-2400)cgG>cgA	p.R800R	TBC1D2B_uc010bla.3_Silent_p.R800R|TBC1D2B_uc002bda.3_Silent_p.R252R	NM_144572	NP_653173	Q9UPU7	TBD2B_HUMAN	Homo sapiens TBC1 domain family, member 2B (TBC1D2B), transcript variant 1, mRNA.	800	Rab-GAP TBC.					intracellular	Rab GTPase activator activity|protein binding			breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26						CTCTGAACACCCGCTGGTCCA	0.552000														14			9		0	0	0.004482	0	0
MYO3A	53904	broad.mit.edu	37	10	26465724	26465724	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:26465724C>T	uc001isn.2	+	30	4748	c.4388C>T	c.(4387-4389)tCg>tTg	p.S1463L	MYO3A_uc009xkp.1_Intron|MYO3A_uc009xkq.1_Intron	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	Homo sapiens myosin IIIA (MYO3A), mRNA.	1463					protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	ADP binding|ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						CTGGGTGTCTCGCACCATAAG	0.363000														38			21		0	0	0.003954	0	0
SLFN12L	100506736	broad.mit.edu	37	17	33807092	33807092	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:33807092C>T	uc002hjn.3	-	2	938	c.224G>A	c.(223-225)aGa>aAa	p.R75K	SLFN12L_uc021tuy.1_Missense_Mutation_p.R46K	NM_001195790	NP_001182719	Q6IEE8	SN12L_HUMAN	Homo sapiens schlafen family member 12-like (SLFN12L), mRNA.	78						integral to membrane	ATP binding			breast(1)|endometrium(4)|kidney(5)|large_intestine(2)|lung(3)|ovary(1)	16						CATTTTTTTTCTATTGTTCTC	0.423000														5			7		0	0	0.003080	0	0
ZSWIM5	57643	broad.mit.edu	37	1	45485811	45485811	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:45485811C>T	uc001cnd.2	-	12	2850	c.2622G>A	c.(2620-2622)cgG>cgA	p.R874R		NM_020883	NP_065934	Q9P217	ZSWM5_HUMAN	Homo sapiens zinc finger, SWIM-type containing 5 (ZSWIM5), mRNA.	874							zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					ATAAGGTCATCCGCATCACCT	0.522000														25			11		0	0	0.001855	0	0
DNMT1	1786	broad.mit.edu	37	19	10247806	10247806	+	Missense_Mutation	SNP	G	A	A	rs147984942	byFrequency	TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:10247806G>A	uc002mng.3	-	35	4576	c.4396C>T	c.(4396-4398)Cgc>Tgc	p.R1466C	DNMT1_uc002mnf.3_Missense_Mutation_p.R390C|DNMT1_uc010xlc.2_Missense_Mutation_p.R1482C|DNMT1_uc002mnh.3_Missense_Mutation_p.R1361C|DNMT1_uc010xld.2_Missense_Mutation_p.R1466C	NM_001379	NP_001370	P26358	DNMT1_HUMAN	Homo sapiens DNA (cytosine-5-)-methyltransferase 1 (DNMT1), transcript variant 2, mRNA.	1466	Catalytic.|Interaction with the PRC2/EED-EZH2 complex (By similarity).				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)	GAGCTGCTGCGGCCGTTCTTC	0.647000														21			7		0	0	0.003080	0	0
ZNF549	256051	broad.mit.edu	37	19	58049273	58049273	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:58049273G>A	uc002qpb.2	+	3	1150	c.901G>A	c.(901-903)Gaa>Aaa	p.E301K	ZNF549_uc002qpa.2_Missense_Mutation_p.E288K	NM_001199295	NP_001186224	Q6P9A3	ZN549_HUMAN	Homo sapiens zinc finger protein 549 (ZNF549), transcript variant 1, mRNA.	301					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TCACACTAGAGAAAGGTCTTA	0.423000														42			13		0	0	0.002450	0	0
MLLT6	4302	broad.mit.edu	37	17	36872948	36872948	+	Silent	SNP	T	G	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:36872948T>G	uc002hqi.4	+	9	1378	c.1365T>G	c.(1363-1365)gcT>gcG	p.A455A	MLLT6_uc002hqj.3_Intron|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.	455					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)					CTGTGCCTGCTGATGAGACCC	0.652000			T	MLL	AL									10			5		0	0	0.001168	0	0
DSG1	1828	broad.mit.edu	37	18	28934983	28934983	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr18:28934983G>A	uc002kwp.3	+	14	3036	c.2824G>A	c.(2824-2826)Gag>Aag	p.E942K	DSG1_uc010xbp.2_Missense_Mutation_p.E301K	NM_001942	NP_001933	Q02413	DSG1_HUMAN	Homo sapiens desmoglein 1 (DSG1), mRNA.	942					calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			TATGCACCCCGAGTTAGCCAA	0.488000														186			68		0	0	0.003610	0	0
RP1	6101	broad.mit.edu	37	8	55537550	55537550	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:55537550C>T	uc003xsd.1	+	3	1256	c.1108C>T	c.(1108-1110)Cca>Tca	p.P370S	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	370					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	p.F369I(1)		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)			GATGAGTTTTCCAGGAAGAAC	0.398000														25			10		0	0	0.001368	0	0
EFCAB2	84288	broad.mit.edu	37	1	245245421	245245421	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:245245421G>A	uc001ibd.2	+	4	769	c.628G>A	c.(628-630)Gaa>Aaa	p.E210K	EFCAB2_uc001ibc.2_Missense_Mutation_p.E74K|EFCAB2_uc010pyo.1_Missense_Mutation_p.E84K|EFCAB2_uc010pyp.1_Missense_Mutation_p.E74K|EFCAB2_uc001ibe.2_Non-coding_Transcript			Q5VUJ9	EFCB2_HUMAN	Homo sapiens EF-hand calcium binding domain 2 (EFCAB2), transcript variant 3, non-coding RNA.	210							calcium ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|stomach(2)	13	all_cancers(71;2.93e-06)|all_epithelial(71;2.13e-05)|all_lung(81;0.0337)|Lung NSC(105;0.0472)|Ovarian(71;0.0584)|Breast(184;0.0716)|all_neural(11;0.0982)		OV - Ovarian serous cystadenocarcinoma(106;0.015)			CATTCGATTCGAAAAATTTCT	0.323000														72			27		0	0	0.008361	0	0
ADRBK1	156	broad.mit.edu	37	11	67052645	67052645	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:67052645A>T	uc009yrn.1	+	19	2157	c.1891A>T	c.(1891-1893)Att>Ttt	p.I631F		NM_001619	NP_001610	P25098	ARBK1_HUMAN	Homo sapiens adrenergic, beta, receptor kinase 1 (ADRBK1), mRNA.	631	PH.				activation of phospholipase C activity|cardiac muscle contraction|desensitization of G-protein coupled receptor protein signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of striated muscle contraction|negative regulation of the force of heart contraction by chemical signal|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of catecholamine secretion|tachykinin receptor signaling pathway	cytosol|soluble fraction	ATP binding|Edg-2 lysophosphatidic acid receptor binding|G-protein coupled receptor kinase activity|alpha-2A adrenergic receptor binding|beta-adrenergic receptor kinase activity|signal transducer activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)	22			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		Adenosine triphosphate(DB00171)	GAAACAGTTCATTTTGCAGTG	0.637000														104			50		0	0	0.003610	0	0
PSG2	5670	broad.mit.edu	37	19	43586713	43586713	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:43586713G>A	uc002ovr.3	-	0	181	c.9C>T	c.(7-9)ccC>ccT	p.P3P	PSG4_uc010xwk.1_Intron	NM_031246	NP_112536	P11465	PSG2_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 2 (PSG2), mRNA.	3					cell migration|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49		Prostate(69;0.00682)				GGGCTGAGAGGGGCCCCATGG	0.582000														58			24		0	0	0.001786	0	0
DOCK3	1795	broad.mit.edu	37	3	51198015	51198015	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:51198015G>A	uc011bds.2	+	11	942	c.919G>A	c.(919-921)Ggt>Agt	p.G307S		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	Homo sapiens dedicator of cytokinesis 3 (DOCK3), mRNA.	307						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)		CTCAAAGAAAGGTCCTCCTCA	0.488000														14			12		0	0	0.004007	0	0
IMPA1	3612	broad.mit.edu	37	8	82571638	82571638	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:82571638C>T	uc003ych.2	-	8	909	c.782G>A	c.(781-783)aGg>aAg	p.R261K	IMPA1_uc011lfq.1_Missense_Mutation_p.R320K|IMPA1_uc011lfr.1_3'UTR	NM_005536	NP_005527	P29218	IMPA1_HUMAN	Homo sapiens inositol(myo)-1(or 4)-monophosphatase 1 (IMPA1), transcript variant 1, mRNA.	261					inositol phosphate dephosphorylation|phosphatidylinositol biosynthetic process|signal transduction	cytoplasm	inositol-1(or 4)-monophosphatase activity|metal ion binding|protein homodimerization activity			NS(1)|cervix(1)|large_intestine(4)|lung(7)|prostate(2)|skin(2)|stomach(1)	18					Lithium(DB01356)	TTTAGCTATCCTTTCTGCTAA	0.358000														57			18		0	0	0.001523	0	0
RGS6	9628	broad.mit.edu	37	14	72921280	72921280	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:72921280G>A	uc001xna.4	+	3	752	c.229G>A	c.(229-231)Gac>Aac	p.D77N	RGS6_uc021rvv.1_Missense_Mutation_p.D42N|RGS6_uc010ttn.2_Missense_Mutation_p.D77N|RGS6_uc021rvw.1_Missense_Mutation_p.D77N|RGS6_uc021rvx.1_Missense_Mutation_p.D77N|RGS6_uc021rvy.1_Missense_Mutation_p.D77N|RGS6_uc021rvz.1_Missense_Mutation_p.D77N|RGS6_uc001xmy.4_Missense_Mutation_p.D77N|RGS6_uc010tto.2_Non-coding_Transcript|RGS6_uc001xmx.4_Missense_Mutation_p.D77N|RGS6_uc021rwa.1_Missense_Mutation_p.D77N|RGS6_uc021rwb.1_Missense_Mutation_p.D77N|RGS6_uc010ttp.1_Missense_Mutation_p.D8N|RGS6_uc010arg.3_Non-coding_Transcript	NM_001204423	NP_001191352	P49758	RGS6_HUMAN	Homo sapiens regulator of G-protein signaling 6 (RGS6), transcript variant 9, mRNA.	77	DEP.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33				all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)		TTCCATTGAGGACCCAGGTAC	0.478000														85			35		0	0	0.002522	0	0
FAM9B	171483	broad.mit.edu	37	X	8995992	8995992	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chrX:8995992G>A	uc004csh.3	-	5	718	c.529C>T	c.(529-531)Caa>Taa	p.Q177*	FAM9B_uc011mhu.2_Nonsense_Mutation_p.Q137*			Q8IZU0	FAM9B_HUMAN	Homo sapiens family with sequence similarity 9, member B (FAM9B), mRNA.	137						nucleus				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|urinary_tract(1)	11		Hepatocellular(5;0.219)				TTCTTCTGTTGTTCTTGAAAT	0.328000														26			29		0	0	0.006320	0	0
GHR	2690	broad.mit.edu	37	5	42700047	42700047	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:42700047G>A	uc021xxv.1	+	5	719	c.582G>A	c.(580-582)tgG>tgA	p.W194*	GHR_uc003jmt.3_Nonsense_Mutation_p.W187*|GHR_uc003jmu.3_Nonsense_Mutation_p.W187*|GHR_uc003jmv.2_Nonsense_Mutation_p.W187*|GHR_uc021xxw.1_Nonsense_Mutation_p.W187*|GHR_uc021xxx.1_Nonsense_Mutation_p.W187*|GHR_uc021xxy.1_Nonsense_Mutation_p.W187*|GHR_uc021xxz.1_Nonsense_Mutation_p.W187*|GHR_uc021xya.1_Nonsense_Mutation_p.W187*|GHR_uc021xyb.1_Nonsense_Mutation_p.W187*|GHR_uc021xyc.1_Nonsense_Mutation_p.W187*|GHR_uc011cpq.2_5'UTR|GHR_uc021xyd.1_Nonsense_Mutation_p.W165*	NM_001242399	NP_001229328	P10912	GHR_HUMAN	Homo sapiens growth hormone receptor (GHR), transcript variant 2, mRNA.	187	Fibronectin type-III.				2-oxoglutarate metabolic process|JAK-STAT cascade|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding			NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	AGAAAGGATGGATGGTTCTGG	0.383000														30			6		0	0	0.001168	0	0
GRIN2A	2903	broad.mit.edu	37	16	9858016	9858016	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:9858016G>A	uc010uym.2	-	13	3695	c.3385C>T	c.(3385-3387)Cac>Tac	p.H1129Y	GRIN2A_uc002czo.4_Missense_Mutation_p.H1129Y|GRIN2A_uc010uyn.2_Missense_Mutation_p.H972Y|GRIN2A_uc002czr.4_Missense_Mutation_p.H1129Y	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	1129					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GGATCTAAGTGGAAACCAGGC	0.522000														86			29		0	0	0.007291	0	0
CD163L1	283316	broad.mit.edu	37	12	7586192	7586192	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:7586192C>T	uc010sge.2	-	2	249	c.223G>A	c.(223-225)Gat>Aat	p.D75N	CD163L1_uc001qsy.3_Missense_Mutation_p.D75N	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	Homo sapiens CD163 molecule-like 1 (CD163L1), mRNA.	75	SRCR 1.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						TTCCACCCATCATCACACACA	0.512000														70			35		0	0	0.005524	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140215098	140215098	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:140215098G>A	uc003lhq.2	+	0	1130	c.1130G>A	c.(1129-1131)cGa>cAa	p.R377Q	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.R377Q	NM_018910	NP_061733	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 7 (PCDHA7), transcript variant 1, mRNA.	392	Cadherin 4.				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)			GTGTTTGACCGAGATTTTGGA	0.507000														94			33		0	0	0.002836	0	0
EZH2	2146	broad.mit.edu	37	7	148512073	148512073	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:148512073A>C	uc003wfd.2	-	13	1783	c.1590T>G	c.(1588-1590)tgT>tgG	p.C530W	EZH2_uc022aov.1_Intron|EZH2_uc011kug.2_Intron|EZH2_uc003wfb.2_Missense_Mutation_p.C535W|EZH2_uc003wfc.2_Missense_Mutation_p.C491W|EZH2_uc011kuh.2_Missense_Mutation_p.C521W	NM_001203247	NP_001190176	Q15910	EZH2_HUMAN	Homo sapiens enhancer of zeste homolog 2 (Drosophila) (EZH2), transcript variant 3, mRNA.	530	Cys-rich.				negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|histone-lysine N-methyltransferase activity|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3)	359	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00239)			ACGAACTGTCACAAGGCTGCC	0.418000			Mis		DLBCL									34			12		0	0	0.001368	0	0
SEMA3G	56920	broad.mit.edu	37	3	52475701	52475701	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:52475701C>T	uc003dea.1	-	5	556	c.556G>A	c.(556-558)Gag>Aag	p.E186K		NM_020163	NP_064548	Q9NS98	SEM3G_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G (SEMA3G), mRNA.	186	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)		GTGTACAGCTCCCCGTCTGGG	0.657000														18			13		0	0	0.001855	0	0
NUP214	8021	broad.mit.edu	37	9	134025795	134025795	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:134025795G>A	uc004cag.3	+	14	2236	c.2125G>A	c.(2125-2127)Gag>Aag	p.E709K	NUP214_uc004cah.3_Missense_Mutation_p.E699K|NUP214_uc004cai.3_Missense_Mutation_p.E139K|NUP214_uc004caf.1_Missense_Mutation_p.E698K|NUP214_uc010mzf.3_Missense_Mutation_p.E7K	NM_005085	NP_005076	P35658	NU214_HUMAN	Homo sapiens nucleoporin 214kDa (NUP214), mRNA.	709	11 X 5 AA approximate repeats.				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)		AATTGGGGAGGAGGTAAATTT	0.458000			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""									46			16		0	0	0.001523	0	0
CACNA2D4	93589	broad.mit.edu	37	12	1967746	1967746	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:1967746C>T	uc021qsx.1	-	19	2236	c.2005G>A	c.(2005-2007)Gaa>Aaa	p.E669K	CACNA2D4_uc009zds.2_Non-coding_Transcript|CACNA2D4_uc009zdt.1_Missense_Mutation_p.E533K	NM_172364	NP_758952	Q7Z3S7	CA2D4_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 4 (CACNA2D4), mRNA.	669						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		GACCCACCTTCTTCCACAGAC	0.582000														25			13		0	0	0.002450	0	0
WIZ	58525	broad.mit.edu	37	19	15537819	15537819	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:15537819C>T	uc002nbc.3	-	3	1600	c.1577G>A	c.(1576-1578)cGg>cAg	p.R526Q	WIZ_uc002nba.4_Missense_Mutation_p.R393Q|WIZ_uc002nbb.4_Missense_Mutation_p.R352Q	NM_021241	NP_067064	O95785	WIZ_HUMAN	Homo sapiens widely interspaced zinc finger motifs (WIZ), mRNA.	1209						nucleus	zinc ion binding	p.R352L(1)|p.R1209L(1)|p.R523L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	24						CATGTCTTCCCGTGGTGCCCC	0.617000														38			9		0	0	0.006214	0	0
UNC119B	84747	broad.mit.edu	37	12	121157725	121157725	+	Missense_Mutation	SNP	C	T	T	rs138738738		TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:121157725C>T	uc001tyz.3	+	4	1093	c.646C>T	c.(646-648)Cgt>Tgt	p.R216C		NM_001080533	NP_001074002	A6NIH7	U119B_HUMAN	Homo sapiens unc-119 homolog B (C. elegans) (UNC119B), mRNA.	216										breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)	9	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					ACTTGCAGTTCGTCTAATGAT	0.433000														194			120		0	0	0.003610	0	0
KIAA0513	9764	broad.mit.edu	37	16	85100875	85100875	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:85100875G>A	uc002fiu.3	+	1	418	c.198G>A	c.(196-198)tgG>tgA	p.W66*	KIAA0513_uc010voj.2_Nonsense_Mutation_p.W66*|KIAA0513_uc002fit.3_Nonsense_Mutation_p.W66*	NM_014732	NP_055547	O60268	K0513_HUMAN	Homo sapiens KIAA0513 (KIAA0513), mRNA.	66						cytoplasm				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(9)|pancreas(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.234)		ACCCGTCCTGGGACCAAGACC	0.617000														16			5		0	0	0.001168	0	0
SDC4	6385	broad.mit.edu	37	20	43956024	43956024	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr20:43956024G>A	uc002xnu.3	-	4	517	c.477C>T	c.(475-477)ctC>ctT	p.L159L	SDC4_uc010zws.2_Silent_p.L87L	NM_002999	NP_002990	P31431	SDC4_HUMAN	Homo sapiens syndecan 4 (SDC4), mRNA.	159						extracellular region|integral to plasma membrane	cytoskeletal protein binding|thrombospondin receptor activity		SDC4/ROS1(7)	NS(1)|breast(1)|endometrium(1)|large_intestine(2)	5		Myeloproliferative disorder(115;0.0122)				AGACGGCAAAGAGGATGCCCA	0.537000			T	ROS1	NSCLC									19			15		0	0	0.003163	0	0
TRIM58	25893	broad.mit.edu	37	1	248039598	248039598	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:248039598C>T	uc001ido.3	+	5	1316	c.1268C>T	c.(1267-1269)tCa>tTa	p.S423L	OR2W3_uc001idp.1_Intron	NM_015431	NP_056246	Q8NG06	TRI58_HUMAN	Homo sapiens tripartite motif containing 58 (TRIM58), mRNA.	423	B30.2/SPRY.					intracellular	zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GGTGAAATTTCATTCTACAAT	0.438000														102			47		0	0	0.003610	0	0
OR5F1	338674	broad.mit.edu	37	11	55761862	55761862	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:55761862C>T	uc010riv.2	-	0	240	c.240G>A	c.(238-240)aaG>aaA	p.K80K		NM_003697	NP_003688	O95221	OR5F1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily F, member 1 (OR5F1), mRNA.	80					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					CTGCCAGCATCTTTGGGGTGA	0.448000														52			25		0	0	0.003954	0	0
EYA4	2070	broad.mit.edu	37	6	133767836	133767836	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:133767836C>T	uc011ecs.2	+	3	468	c.152C>T	c.(151-153)tCc>tTc	p.S51F	EYA4_uc011ecq.2_Missense_Mutation_p.S51F|EYA4_uc011ecr.2_Missense_Mutation_p.S51F|EYA4_uc003qec.4_Missense_Mutation_p.S51F|EYA4_uc003qed.4_Missense_Mutation_p.S51F|EYA4_uc003qee.4_Missense_Mutation_p.S51F|BC041459_uc003qef.1_Intron	NM_004100	NP_004091	O95677	EYA4_HUMAN	Homo sapiens eyes absent homolog 4 (Drosophila) (EYA4), transcript variant 1, mRNA.	51					DNA repair|anatomical structure morphogenesis|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		CCAGGTAGCTCCAAACTGGAA	0.438000														38			14		0	0	0.001855	0	0
EME1	146956	broad.mit.edu	37	17	48458281	48458281	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:48458281C>T	uc002iqs.2	+	8	1776	c.1694C>T	c.(1693-1695)tCt>tTt	p.S565F	EME1_uc010dbp.2_Missense_Mutation_p.S578F|EME1_uc010dbq.2_Non-coding_Transcript|DQ599569_uc010wmk.1_5'Flank	NM_152463	NP_689676	Q96AY2	EME1_HUMAN	Homo sapiens essential meiotic endonuclease 1 homolog 1 (S. pombe) (EME1), transcript variant 2, mRNA.	565					DNA recombination|DNA repair	nucleolus	DNA binding|endonuclease activity|metal ion binding|protein binding			endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	19	Breast(11;5.62e-19)		BRCA - Breast invasive adenocarcinoma(22;2.43e-08)			CCACATCTCTCTTTAGATAGT	0.507000								Direct reversal of damage;Homologous recombination						37			17		0	0	0.007413	0	0
CSMD1	64478	broad.mit.edu	37	8	2820090	2820090	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:2820090C>T	uc022aqr.1	-	60	9916	c.9526G>A	c.(9526-9528)Gaa>Aaa	p.E3176K	CSMD1_uc011kwj.2_Missense_Mutation_p.E2506K|CSMD1_uc010lrg.3_Missense_Mutation_p.E1068K	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	3177	Sushi 26.					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)		AAGAAGACTTCGGACTTATAG	0.522000														20			13		0	0	0.001368	0	0
SH2D5	400745	broad.mit.edu	37	1	21048471	21048471	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:21048471G>A	uc009vpy.1	-	9	1588	c.1086C>T	c.(1084-1086)ttC>ttT	p.F362F	SH2D5_uc001bdt.1_Silent_p.F278F|SH2D5_uc001bdu.1_Non-coding_Transcript	NM_001103161	NP_001096630	Q6ZV89	SH2D5_HUMAN	Homo sapiens SH2 domain containing 5 (SH2D5), transcript variant 1, mRNA.	278										lung(4)|prostate(1)|upper_aerodigestive_tract(1)	6		Colorectal(325;3.46e-05)|all_lung(284;5.32e-05)|Lung NSC(340;5.51e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.17e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000142)|GBM - Glioblastoma multiforme(114;0.000465)|Kidney(64;0.000476)|STAD - Stomach adenocarcinoma(196;0.00303)|KIRC - Kidney renal clear cell carcinoma(64;0.00634)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CCAGGCTGGGGAACTCTGCCG	0.662000														12			10		0	0	0.001855	0	0
CYP19A1	1588	broad.mit.edu	37	15	51504559	51504559	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:51504559G>A	uc001zyz.4	-	9	1472	c.1221C>T	c.(1219-1221)ttC>ttT	p.F407F	CYP19A1_uc001zza.4_Silent_p.F407F|CYP19A1_uc001zzb.2_Silent_p.F407F	NM_031226	NP_112503	P11511	CP19A_HUMAN	Homo sapiens cytochrome P450, family 19, subfamily A, polypeptide 1 (CYP19A1), transcript variant 2, mRNA.	407					estrogen biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|membrane fraction	aromatase activity|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			endometrium(1)|kidney(4)|large_intestine(9)|lung(11)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	33				all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128)	Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Diethylstilbestrol(DB00255)|Exemestane(DB00990)|Letrozole(DB01006)|Testolactone(DB00894)|Testosterone(DB00624)	TGGGTTTGGGGAAAAACTCGA	0.393000														71			21		0	0	0.008871	0	0
FBN3	84467	broad.mit.edu	37	19	8188881	8188881	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:8188881C>T	uc002mjf.3	-	21	2760	c.2743G>A	c.(2743-2745)Gaa>Aaa	p.E915K		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	Homo sapiens fibrillin 3 (FBN3), mRNA.	915	TB 5.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						AAACATGGTTCCAATCTCACA	0.632000														8			3		0	0	0.000602	0	0
PLCG2	5336	broad.mit.edu	37	16	81960689	81960689	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:81960689G>A	uc002fgt.3	+	22	2598	c.2420G>A	c.(2419-2421)tGg>tAg	p.W807*		NM_002661	NP_002652	P16885	PLCG2_HUMAN	Homo sapiens phospholipase C, gamma 2 (phosphatidylinositol-specific) (PLCG2), mRNA.	807	SH3.				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						TTATCCAGGTGGAAAGGAGAC	0.532000														79			38		0	0	0.002852	0	0
PSMD1	5707	broad.mit.edu	37	2	231936974	231936974	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:231936974C>T	uc002vrn.2	+	6	888	c.726C>T	c.(724-726)ctC>ctT	p.L242L	PSMD1_uc002vrm.2_Silent_p.L242L|PSMD1_uc010fxu.2_Silent_p.L106L	NM_002807	NP_002798	Q99460	PSMD1_HUMAN	Homo sapiens proteasome (prosome, macropain) 26S subunit, non-ATPase, 1 (PSMD1), transcript variant 1, mRNA.	242					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)	31		Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168)	Bortezomib(DB00188)	AAGACAACCTCCTGATGGCAT	0.378000														90			42		0	0	0.002522	0	0
C11orf82	220042	broad.mit.edu	37	11	82644813	82644813	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:82644813C>T	uc001ozt.3	+	5	2677	c.2433C>T	c.(2431-2433)ttC>ttT	p.F811F	C11orf82_uc010rsr.2_Silent_p.F510F|C11orf82_uc010rss.2_Silent_p.F510F|C11orf82_uc009yvd.2_Intron	NM_145018	NP_659455	Q8IXT1	NOXIN_HUMAN	Homo sapiens chromosome 11 open reading frame 82 (C11orf82), mRNA.	811					apoptosis|cell cycle arrest	cytoplasm|nucleus				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	33						TAAGGATTTTCCCTGAAAATG	0.368000														30			14		0	0	0.001855	0	0
C15orf2	23742	broad.mit.edu	37	15	24921504	24921504	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:24921504G>A	uc001ywo.3	+	0	964	c.490G>A	c.(490-492)Gag>Aag	p.E164K		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	164					cell differentiation|multicellular organismal development|spermatogenesis					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)		GAAGAAGGATGAGGATCCGGT	0.622000														23			5		0	0	0.000602	0	0
SENP7	57337	broad.mit.edu	37	3	101066822	101066822	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:101066822A>T	uc003dut.3	-	12	1842	c.1731T>A	c.(1729-1731)gaT>gaA	p.D577E	SENP7_uc003duu.3_Missense_Mutation_p.D512E|SENP7_uc003duv.3_Missense_Mutation_p.D544E|SENP7_uc003duw.3_Missense_Mutation_p.D511E|SENP7_uc003dux.3_Missense_Mutation_p.D413E	NM_020654	NP_065705	Q9BQF6	SENP7_HUMAN	Homo sapiens SUMO1/sentrin specific peptidase 7 (SENP7), transcript variant 1, mRNA.	577					proteolysis	nucleus	cysteine-type peptidase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						TGTGATTATCATCCTTACTTT	0.358000														114			45		0	0	0.003610	0	0
DNMT1	1786	broad.mit.edu	37	19	10260594	10260594	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:10260594G>A	uc002mng.3	-	23	2448	c.2268C>T	c.(2266-2268)acC>acT	p.T756T	DNMT1_uc010xlc.2_Silent_p.T772T|DNMT1_uc002mnh.3_Silent_p.T651T|DNMT1_uc010xld.2_Silent_p.T756T	NM_001379	NP_001370	P26358	DNMT1_HUMAN	Homo sapiens DNA (cytosine-5-)-methyltransferase 1 (DNMT1), transcript variant 2, mRNA.	756	BAH 1.				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)	CCACTTCCAGGGTTTCCGCAT	0.438000														66			20		0	0	0.002299	0	0
OR8H2	390151	broad.mit.edu	37	11	55873324	55873324	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:55873324G>A	uc010riy.2	+	0	806	c.806G>A	c.(805-807)gGa>gAa	p.G269E		NM_001005200	NP_001005200	Q8N162	OR8H2_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily H, member 2 (OR8H2), mRNA.	269					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					TATTCCTTGGGAAGAGATCAA	0.363000										HNSCC(53;0.14)				85			29		0	0	0.002096	0	0
TJP1	7082	broad.mit.edu	37	15	30025367	30025367	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:30025367G>A	uc001zcr.3	-	12	2142	c.1667C>T	c.(1666-1668)tCt>tTt	p.S556F	TJP1_uc010azl.3_Missense_Mutation_p.S544F|TJP1_uc001zcq.3_Missense_Mutation_p.S560F|TJP1_uc001zcs.3_Missense_Mutation_p.S556F	NM_003257	NP_003248	Q07157	ZO1_HUMAN	Homo sapiens tight junction protein 1 (zona occludens 1) (TJP1), transcript variant 1, mRNA.	556	SH3.				cell-cell junction assembly|cellular component disassembly involved in apoptosis	Golgi apparatus|basolateral plasma membrane|cell-cell adherens junction|tight junction				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		AGCAAGCCAAGAGCCCAGTTT	0.398000														53			34		0	0	0.004878	0	0
OR5A2	219981	broad.mit.edu	37	11	59189524	59189524	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:59189524G>A	uc010rkt.2	-	0	903	c.903C>T	c.(901-903)gcC>gcT	p.A301A		NM_001001954	NP_001001954	Q8NGI9	OR5A2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily A, member 2 (OR5A2), mRNA.	301					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	21						CTTTCCTCATGGCATTTTTAA	0.458000														56			23		0	0	0.001882	0	0
FAM47A	158724	broad.mit.edu	37	X	34149560	34149560	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chrX:34149560G>A	uc004ddg.3	-	0	888	c.836C>T	c.(835-837)cCt>cTt	p.P279L		NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN	Homo sapiens family with sequence similarity 47, member A (FAM47A), mRNA.	279										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						GCCCTCACAAGGAGCCCGTGC	0.572000														1			6		0	0	0.001168	0	0
ZEB1	6935	broad.mit.edu	37	10	31810669	31810669	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:31810669C>T	uc001ivs.4	+	6	2469	c.2406C>T	c.(2404-2406)atC>atT	p.I802I	ZEB1_uc001ivr.4_Silent_p.I584I|ZEB1_uc010qef.2_Silent_p.I584I|ZEB1_uc009xlj.1_Silent_p.I728I|ZEB1_uc010qeg.1_Silent_p.I661I|ZEB1_uc009xlk.1_Silent_p.I584I|ZEB1_uc001ivu.4_Silent_p.I803I|ZEB1_uc010qeh.2_Silent_p.I735I|ZEB1_uc001ivv.4_Silent_p.I782I|ZEB1_uc001ivt.4_Silent_p.I584I|ZEB1_uc009xlo.2_Silent_p.I785I|ZEB1_uc009xlp.3_Silent_p.I786I	NM_030751	NP_110378	P37275	ZEB1_HUMAN	Homo sapiens zinc finger E-box binding homeobox 1 (ZEB1), transcript variant 2, mRNA.	802					cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				CCATAAATATCGCTATACCTA	0.463000														43			17		0	0	0.004990	0	0
OR4K5	79317	broad.mit.edu	37	14	20388938	20388938	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:20388938C>T	uc010tkw.2	+	0	173	c.173C>T	c.(172-174)cCt>cTt	p.P58L		NM_001005483	NP_001005483	Q8NGD3	OR4K5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 5 (OR4K5), mRNA.	58					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)		CTGCACTCCCCTATGTACTTT	0.413000														122			53		0	0	0.003610	0	0
C12orf50	160419	broad.mit.edu	37	12	88383058	88383058	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:88383058T>A	uc001tam.1	-	7	851	c.683A>T	c.(682-684)aAa>aTa	p.K228I	C12orf50_uc001tan.3_Missense_Mutation_p.K282I	NM_152589	NP_689802	Q8NA57	CL050_HUMAN	Homo sapiens chromosome 12 open reading frame 50 (C12orf50), mRNA.	228										NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2)	34						ATTTGAACATTTTGATATGGT	0.313000														32			12		0	0	0.000978	0	0
CR1	1378	broad.mit.edu	37	1	207741283	207741283	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:207741283G>A	uc001hfy.3	+	16	2857	c.2717G>A	c.(2716-2718)aGa>aAa	p.R906K	CR1_uc009xcl.1_Missense_Mutation_p.R456K|CR1_uc001hfx.3_Missense_Mutation_p.R1356K|CR1_uc021pij.1_Missense_Mutation_p.R906K|CR1_uc009xck.1_Missense_Mutation_p.R456K	NM_000573	NP_000564	P17927	CR1_HUMAN	Homo sapiens complement component (3b/4b) receptor 1 (Knops blood group) (CR1), transcript variant F, mRNA.	906	Sushi 14.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						CACCCAGACAGAGGGACGAGC	0.532000														156			35		0	0	0.002836	0	0
MXRA5	25878	broad.mit.edu	37	X	3241234	3241234	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chrX:3241234G>A	uc004crg.4	-	4	2649	c.2492C>T	c.(2491-2493)cCt>cTt	p.P831L		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	831						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TGTCTGCACAGGAGATGCTGA	0.498000														15			23		0	0	0.003330	0	0
ZNF331	55422	broad.mit.edu	37	19	54080316	54080316	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:54080316T>G	uc002qbx.1	+	6	1936	c.502T>G	c.(502-504)Ttc>Gtc	p.F168V	ZNF331_uc002qby.1_Missense_Mutation_p.F168V|ZNF331_uc002qbz.1_Missense_Mutation_p.F168V|ZNF331_uc010eqr.1_Missense_Mutation_p.F168V|ZNF331_uc002qca.1_Missense_Mutation_p.F168V|ZNF331_uc021uzg.1_Missense_Mutation_p.F168V|ZNF331_uc021uzh.1_Missense_Mutation_p.F168V|ZNF331_uc002qcb.1_Missense_Mutation_p.F168V|ZNF331_uc002qcc.1_Missense_Mutation_p.F168V|ZNF331_uc002qcd.1_Missense_Mutation_p.F168V	NM_018555	NP_061025	Q9NQX6	ZN331_HUMAN	Homo sapiens zinc finger protein 331 (ZNF331), transcript variant 1, mRNA.	168					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	10				GBM - Glioblastoma multiforme(134;0.00555)		TAAGAAGGCCTTCCGTTGGGG	0.443000			T	?	follicular thyroid adenoma									94			28		0	0	0.008361	0	0
OR13J1	392309	broad.mit.edu	37	9	35869612	35869612	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:35869612T>G	uc011lph.2	-	0	787	c.787A>C	c.(787-789)Aag>Cag	p.K263Q		NM_001004487	NP_001004487	Q8NGT2	O13J1_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily J, member 1 (OR13J1), mRNA.	263					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|large_intestine(1)|lung(3)|skin(1)	6	all_epithelial(49;0.169)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00494)|STAD - Stomach adenocarcinoma(86;0.194)			TCCTTACTCTTGGGCTTCAAG	0.542000														38			9		0	0	0.001368	0	0
NFE2L1	4779	broad.mit.edu	37	17	46136643	46136644	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:46136643_46136644CC>TT	uc002imz.4	+	5	2610_2611	c.1959_1960CC>TT	c.(1957-1962)agcctc>agTTtc	p.L654F	NFE2L1_uc002ina.4_Missense_Mutation_p.L624F|NFE2L1_uc002inb.4_Missense_Mutation_p.L624F|NFE2L1_uc010wle.2_Missense_Mutation_p.L466F|NFE2L1_uc010wlf.2_Missense_Mutation_p.L498F	NM_003204	NP_003195	Q14494	NF2L1_HUMAN	Homo sapiens nuclear factor (erythroid-derived 2)-like 1 (NFE2L1), mRNA.	654					anatomical structure morphogenesis|heme biosynthetic process|inflammatory response|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			cervix(1)|endometrium(3)|kidney(9)|large_intestine(7)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CCCAGCTGAGCCTCATCCGAGA	0.545000														24			16		0	0	0.004672	0	0
ANKS1A	23294	broad.mit.edu	37	6	34985303	34985303	+	Missense_Mutation	SNP	G	A	A	rs138620347		TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:34985303G>A	uc003ojx.4	+	10	1619	c.1477G>A	c.(1477-1479)Ggg>Agg	p.G493R	ANKS1A_uc011dst.2_Missense_Mutation_p.G33R|ANKS1A_uc010jvp.2_Intron	NM_015245	NP_056060	Q92625	ANS1A_HUMAN	Homo sapiens ankyrin repeat and sterile alpha motif domain containing 1A (ANKS1A), mRNA.	493						cytoplasm	protein binding			cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						GGGGCAGGACGGGCAGGTCCC	0.627000														36			22		0	0	0.002780	0	0
LRRC37A2	474170	broad.mit.edu	37	17	44626153	44626153	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:44626153G>A	uc002ikn.1	+	8	3651	c.3648G>A	c.(3646-3648)caG>caA	p.Q1216Q	ARL17A_uc002iko.4_Intron|LRRC37A2_uc002ikq.1_Silent_p.Q177Q|LRRC37A2_uc010dax.2_Silent_p.Q146Q	NM_001006607	NP_001006608	A6NM11	L37A2_HUMAN	Homo sapiens leucine rich repeat containing 37, member A2 (LRRC37A2), mRNA.	1216						integral to membrane				endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|pancreas(4)|prostate(2)	15		Melanoma(429;0.211)		BRCA - Breast invasive adenocarcinoma(366;0.232)		AGGTGGAACAGCCCCACACAC	0.587000														173			31		0	0	0.004289	0	0
LRGUK	136332	broad.mit.edu	37	7	133861729	133861729	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:133861729G>A	uc003vrm.1	+	9	1037	c.1021_splice	c.e9-1	p.E341_splice		NM_144648	NP_653249	Q96M69	LRGUK_HUMAN	Homo sapiens leucine-rich repeats and guanylate kinase domain containing (LRGUK), mRNA.	341	LRRCT.						ATP binding|kinase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						TTTTAAATAGGAAAAGTCTGA	0.363000														61			20		0	0	0.007413	0	0
OR4A15	81328	broad.mit.edu	37	11	55136193	55136193	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:55136193C>T	uc010rif.2	+	0	834	c.834C>T	c.(832-834)ttC>ttT	p.F278F		NM_001005275	NP_001005275	Q8NGL6	O4A15_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 15 (OR4A15), mRNA.	278					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						TCATTTTATTCTTTGTCCCCT	0.413000														141			53		0	0	0.003610	0	0
OR4C6	219432	broad.mit.edu	37	11	55432857	55432857	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:55432857C>T	uc010rik.2	+	0	215	c.215C>T	c.(214-216)tCa>tTa	p.S72L		NM_001004704	NP_001004704	Q8NH72	OR4C6_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 6 (OR4C6), mRNA.	72					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S72L(2)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						GTCATGTTCTCATCTGTCGTT	0.433000														71			24		0	0	0.002780	0	0
REN	5972	broad.mit.edu	37	1	204129794	204129794	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:204129794A>T	uc001haq.2	-	3	430	c.386T>A	c.(385-387)cTc>cAc	p.L129H		NM_000537	NP_000528	P00797	RENI_HUMAN	Homo sapiens renin (REN), mRNA.	129					angiotensin maturation|regulation of MAPKKK cascade	extracellular space|membrane	aspartic-type endopeptidase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(4)|urinary_tract(1)	19	all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		Aliskiren(DB01258)|Remikiren(DB00212)	AGCATCGAAGAGCTTGTGATA	0.552000														63			31		0	0	0.003271	0	0
STIM1	6786	broad.mit.edu	37	11	4095774	4095774	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:4095774G>A	uc021qco.1	+	6	1402	c.834G>A	c.(832-834)gaG>gaA	p.E278E	STIM1_uc001lyv.2_Silent_p.E278E|STIM1_uc009yef.2_Silent_p.E278E|STIM1_uc009yeg.2_Silent_p.E105E	NM_003156	NP_003147	Q13586	STIM1_HUMAN	Homo sapiens stromal interaction molecule 1 (STIM1), mRNA.	278	Glu-rich.				activation of store-operated calcium channel activity|calcium ion transport|detection of calcium ion|platelet activation	integral to endoplasmic reticulum membrane|integral to plasma membrane|microtubule	calcium ion binding|microtubule plus-end binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|liver(1)|lung(14)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30		Breast(177;0.00159)|Medulloblastoma(188;0.00258)|all_neural(188;0.0233)		BRCA - Breast invasive adenocarcinoma(625;0.114)|LUSC - Lung squamous cell carcinoma(625;0.141)		TGGAGGTGGAGAAGGTCCATC	0.622000														23			11		0	0	0.001368	0	0
OBSL1	23363	broad.mit.edu	37	2	220421347	220421347	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:220421347C>T	uc010fwk.3	-	12	4479	c.4165G>A	c.(4165-4167)Gat>Aat	p.D1389N	OBSL1_uc002vmh.1_Missense_Mutation_p.D288N|OBSL1_uc010zli.1_Missense_Mutation_p.D196N|OBSL1_uc010fwl.2_Missense_Mutation_p.D1389N	NM_015311	NP_056126	O75147	OBSL1_HUMAN	Homo sapiens obscurin-like 1 (OBSL1), transcript variant 1, mRNA.	1389	Ig-like 12.				cardiac myofibril assembly	M band|Z disc|intercalated disc|perinuclear region of cytoplasm	cytoskeletal adaptor activity						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		CAGGTGACATCGGCATCTGGT	0.617000														20			14		0	0	0.002450	0	0
TRIM41	90933	broad.mit.edu	37	5	180659705	180659705	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:180659705G>A	uc003mne.2	+	2	1693	c.956G>A	c.(955-957)cGa>cAa	p.R319Q	AX748230_uc003mnb.1_5'Flank|TRIM41_uc003mnc.2_3'UTR|TRIM41_uc003mnd.2_Missense_Mutation_p.R319Q|TRIM41_uc003mnf.2_Non-coding_Transcript|TRIM41_uc010jlq.1_Missense_Mutation_p.R29Q|TRIM41_uc003mng.1_5'Flank	NM_033549	NP_291027	Q8WV44	TRI41_HUMAN	Homo sapiens tripartite motif containing 41 (TRIM41), transcript variant 1, mRNA.	319						cytoplasm|nucleus	ligase activity|protein binding|zinc ion binding	p.R319*(1)		NS(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(3)|prostate(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	26	all_cancers(89;9.17e-06)|all_epithelial(37;1.19e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GAGTTTGGGCGACTGACACGG	0.612000														21			14		0	0	0.006122	0	0
BDNF	627	broad.mit.edu	37	11	27679710	27679710	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:27679710G>A	uc001mrv.3	-	1	760	c.402C>T	c.(400-402)cgC>cgT	p.R134R	BDNF-AS_uc009yip.3_Intron|BDNF-AS_uc001mrn.3_Intron|BDNF-AS_uc001mro.3_Intron|BDNF-AS_uc001mrm.3_Intron|BDNF-AS_uc009yiq.3_Intron|BDNF-AS_uc001mrp.3_Intron|BDNF-AS_uc009yij.3_Intron|BDNF-AS_uc009yik.3_Intron|BDNF-AS_uc009yil.3_Intron|BDNF-AS_uc009yin.3_Intron|BDNF-AS_uc009yio.3_Intron|BDNF-AS_uc009yim.3_Intron|BDNF-AS_uc009yir.3_Intron|BDNF-AS_uc009yis.3_Intron|BDNF-AS_uc009yiu.3_Intron|BDNF-AS_uc009yix.3_Intron|BDNF-AS_uc009yiy.3_Intron|BDNF-AS_uc001mrq.4_Intron|BDNF-AS_uc009yiw.3_Intron|BDNF-AS_uc009yiz.3_Intron|BDNF-AS_uc001mrr.4_Intron|BDNF-AS_uc009yit.3_Intron|BDNF-AS_uc009yiv.3_Intron|BDNF-AS_uc009yja.3_Intron|BDNF-AS_uc009yjb.3_Intron|BDNF_uc021qff.1_Silent_p.R134R|BDNF_uc010rdu.2_Silent_p.R134R|BDNF_uc001mrt.3_Silent_p.R149R|BDNF_uc010rdw.2_Silent_p.R134R|BDNF_uc009yjd.3_Silent_p.R134R|BDNF_uc001mru.3_Silent_p.R134R|BDNF_uc010rdx.2_Silent_p.R134R|BDNF_uc009yjf.3_Silent_p.R163R|BDNF_uc010rdy.2_Silent_p.R134R|BDNF_uc009yjg.3_Silent_p.R134R|BDNF_uc009yje.3_Silent_p.R216R|BDNF_uc001mrw.4_Silent_p.R134R|BDNF_uc001mry.4_Silent_p.R134R|BDNF_uc001mrz.4_Silent_p.R134R|BDNF_uc001mrx.3_Silent_p.R134R|BDNF_uc001msa.3_Silent_p.R142R	NM_170733	NP_733931	P23560	BDNF_HUMAN	Homo sapiens brain-derived neurotrophic factor (BDNF), transcript variant 5, mRNA.	134						extracellular region	growth factor activity			breast(1)|large_intestine(3)|lung(2)	6						GCTCCCCTCGGCGGGCAGGGT	0.552000														65			29		0	0	0.005443	0	0
PREX2	80243	broad.mit.edu	37	8	68989694	68989694	+	Silent	SNP	T	C	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:68989694T>C	uc003xxv.1	+	14	1659	c.1632T>C	c.(1630-1632)ttT>ttC	p.F544F	PREX2_uc003xxu.1_Silent_p.F544F|PREX2_uc011lez.1_Silent_p.F479F	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA.	544	DEP 2.				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						ACAATGGATTTATGCACCATG	0.453000														53			15		0	0	0.004990	0	0
STXBP5L	9515	broad.mit.edu	37	3	121126203	121126203	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:121126203A>T	uc003eec.4	+	23	2913	c.2773A>T	c.(2773-2775)Aat>Tat	p.N925Y	STXBP5L_uc011bji.2_Missense_Mutation_p.N901Y	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN	Homo sapiens syntaxin binding protein 5-like (STXBP5L), mRNA.	925					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)		CATAGATGAAAATGAAAAATC	0.393000														42			20		0	0	0.008871	0	0
COL22A1	169044	broad.mit.edu	37	8	139707092	139707092	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:139707092C>T	uc003yvd.3	-	32	3070	c.2623G>A	c.(2623-2625)Gat>Aat	p.D875N	COL22A1_uc011ljo.2_Missense_Mutation_p.D175N	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	Homo sapiens collagen, type XXII, alpha 1 (COL22A1), mRNA.	875	Collagen-like 7.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			AGGCCTGGATCGCCCTTCTCT	0.602000										HNSCC(7;0.00092)				37			5		0	0	0.001168	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140723808	140723808	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:140723808G>A	uc003ljm.2	+	0	208	c.208G>A	c.(208-210)Ggt>Agt	p.G70S	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc011dap.2_Missense_Mutation_p.G70S	NM_018916	NP_061739	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 3 (PCDHGA3), transcript variant 1, mRNA.	70	Cadherin 1.				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)			CGTCTCCAGAGGTAGGACGCA	0.612000											OREG0016855	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		89			26		0	0	0.004656	0	0
AHNAK	79026	broad.mit.edu	37	11	62285731	62285731	+	Silent	SNP	G	T	T	rs138648206		TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:62285731G>T	uc001ntl.3	-	4	16458	c.16158C>A	c.(16156-16158)tcC>tcA	p.S5386S	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.	5386					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)				GAGCTCCTACGGATACTTTAG	0.522000														34			12		3.07112e-06	3.70095e-06	0.000978	1	0
NME8	51314	broad.mit.edu	37	7	37890317	37890317	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:37890317G>A	uc003tfn.3	+	4	550	c.178G>A	c.(178-180)Gaa>Aaa	p.E60K		NM_016616	NP_057700	Q8N427	TXND3_HUMAN	Homo sapiens thioredoxin domain containing 3 (spermatozoa) (TXNDC3), mRNA.	60	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										GAACGAAGACGAAATTCTGCA	0.323000														70			30		0	0	0.008361	0	0
KIF5C	3800	broad.mit.edu	37	2	149806414	149806414	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:149806414T>C	uc010zbu.2	+	8	1171	c.776T>C	c.(775-777)tTg>tCg	p.L259S	KIF5C_uc002tws.1_Non-coding_Transcript	NM_004522	NP_004513	O60282	KIF5C_HUMAN	Homo sapiens kinesin family member 5C (KIF5C), mRNA.	259	Kinesin-motor.|Microtubule-binding.				microtubule-based movement|organelle organization	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(221;0.108)		AATAAGTCTTTGTCTGCTCTT	0.453000														19			7		0	0	0.001984	0	0
KRTAP26-1	388818	broad.mit.edu	37	21	31691929	31691929	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr21:31691929G>A	uc002ynw.3	-	0	679	c.425C>T	c.(424-426)gCc>gTc	p.A142V		NM_203405	NP_981950	Q6PEX3	KR261_HUMAN	Homo sapiens keratin associated protein 26-1 (KRTAP26-1), mRNA.	142						intermediate filament				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16						GGGGCGATAGGCATTGGGCAC	0.552000														126			10		0	0	0.000978	0	0
SPACA4	171169	broad.mit.edu	37	19	49110474	49110475	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:49110474_49110475GG>AA	uc002pjo.3	+	0	475_476	c.239_240GG>AA	c.(238-240)agg>aAA	p.R80K	FAM83E_uc002pjn.2_Intron	NM_133498	NP_598005	Q8TDM5	SACA4_HUMAN	Homo sapiens sperm acrosome associated 4 (SPACA4), mRNA.	80	UPAR/Ly6 1.				cell adhesion	acrosomal vesicle|anchored to membrane|plasma membrane				central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)	5		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000112)|GBM - Glioblastoma multiforme(486;0.00615)|Epithelial(262;0.0155)		GTCAGCTACAGGGGCGTCACCT	0.673000														16			5		0	0	0.004672	0	0
PGAP3	93210	broad.mit.edu	37	17	37829086	37829086	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:37829086C>T	uc002hsj.3	-	7	976	c.933G>A	c.(931-933)aaG>aaA	p.K311K	PGAP3_uc010cvy.3_Non-coding_Transcript|PGAP3_uc010wej.2_Silent_p.K290K|PGAP3_uc002hsk.3_Silent_p.K260K|PGAP3_uc010cvz.3_3'UTR	NM_033419	NP_219487	Q96FM1	PGAP3_HUMAN	Homo sapiens post-GPI attachment to proteins 3 (PGAP3), mRNA.	311					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						CCTCTGATTCCTTCAGCAGGT	0.592000														31			18		0	0	0.002299	0	0
GYPA	2993	broad.mit.edu	37	4	145035844	145035844	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:145035844G>T	uc003ijo.4	-	5	550	c.434C>A	c.(433-435)cCa>cAa	p.P145Q	GYPA_uc003ijn.2_Intron|GYPA_uc011cia.2_Non-coding_Transcript|GYPA_uc011cib.2_Missense_Mutation_p.P112Q|GYPA_uc003ijp.4_Missense_Mutation_p.P113Q|GYPA_uc010ioq.3_Missense_Mutation_p.P132Q|GYPA_uc010ior.3_Missense_Mutation_p.P80Q|GYPA_uc010ios.1_Non-coding_Transcript	NM_002099	NP_002090	P02724	GLPA_HUMAN	Homo sapiens glycophorin A (MNS blood group) (GYPA), mRNA.	145					interspecies interaction between organisms	membrane fraction	receptor activity			central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	10	all_hematologic(180;0.15)					ACACCAACCTGGATTTTCTAT	0.373000														24			5		0.000602214	0.00072279	0.000602	1	0
STK24	8428	broad.mit.edu	37	13	99112639	99112639	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr13:99112639G>A	uc001vnm.1	-	8	1380	c.1145C>T	c.(1144-1146)cCt>cTt	p.P382L	STK24_uc001vnn.1_Missense_Mutation_p.P370L|STK24_uc010tim.1_Missense_Mutation_p.P351L	NM_003576	NP_003567	Q9Y6E0	STK24_HUMAN	Homo sapiens serine/threonine kinase 24 (STK24), transcript variant 1, mRNA.	382					cellular component disassembly involved in apoptosis|signal transduction	cytosol|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	17	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			TGCAAACAGAGGAGAAATAAT	0.488000														32			14		0	0	0.003163	0	0
RECQL5	9400	broad.mit.edu	37	17	73625355	73625355	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:73625355G>A	uc010dgl.3	-	15	2357	c.2148C>T	c.(2146-2148)gtC>gtT	p.V716V	RECQL5_uc010dgk.3_Silent_p.V689V|RECQL5_uc002jot.4_5'Flank	NM_004259	NP_004250	O94762	RECQ5_HUMAN	Homo sapiens RecQ protein-like 5 (RECQL5), transcript variant 1, mRNA.	716					DNA recombination|DNA repair	cytoplasm|nuclear membrane|nucleolus|nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding			breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			TGCCTCCAGGGACCTCCCCTC	0.692000								Other identified genes with known or suspected DNA repair function						16			6		0	0	0.001168	0	0
GUCY2C	2984	broad.mit.edu	37	12	14774018	14774018	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:14774018G>A	uc001rcd.3	-	22	2871	c.2734C>T	c.(2734-2736)Ctt>Ttt	p.L912F		NM_004963	NP_004954	P25092	GUC2C_HUMAN	Homo sapiens guanylate cyclase 2C (heat stable enterotoxin receptor) (GUCY2C), mRNA.	912	Guanylate cyclase.				intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						AGGCCAGGAAGATGCTCCAGC	0.473000														42			17		0	0	0.007413	0	0
FAM171A1	221061	broad.mit.edu	37	10	15255455	15255455	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:15255455G>A	uc001iob.3	-	7	2139	c.2132C>T	c.(2131-2133)tCc>tTc	p.S711F		NM_001010924	NP_001010924	Q5VUB5	F1711_HUMAN	Homo sapiens family with sequence similarity 171, member A1 (FAM171A1), mRNA.	711						integral to membrane				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						GCCATCCAAGGAGACGAACCA	0.552000														58			27		0	0	0.004656	0	0
OR51B2	79345	broad.mit.edu	37	11	5345020	5345020	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:5345020G>A	uc001mao.1	-	0	563	c.508C>T	c.(508-510)Cat>Tat	p.H170Y	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron	NM_033180	NP_149420	Q9Y5P1	O51B2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily B, member 2 (OR51B2), mRNA.	170					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S169F(1)		NS(1)|biliary_tract(1)|central_nervous_system(1)|large_intestine(6)|lung(21)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GTGATAACATGAGATTTGCAA	0.388000														42			16		0	0	0.003163	0	0
PCSK5	5125	broad.mit.edu	37	9	78842459	78842459	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:78842459G>A	uc004akc.2	+	20	3205	c.2667G>A	c.(2665-2667)gaG>gaA	p.E889E		NM_001190482	NP_001177411	Q92824	PCSK5_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 5 (PCSK5), transcript variant 1, mRNA.	891	PLAC.				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						AGACCTGTGAGGCCTCATGTG	0.532000														14			6		0	0	0.001168	0	0
THBS1	7057	broad.mit.edu	37	15	39874629	39874629	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:39874629G>A	uc001zkh.3	+	2	482	c.303G>A	c.(301-303)cgG>cgA	p.R101R		NM_003246	NP_003237	P07996	TSP1_HUMAN	Homo sapiens thrombospondin 1 (THBS1), mRNA.	101	TSP N-terminal.				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of cGMP-mediated signaling|negative regulation of caspase activity|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	AGAAGACCCGGGGCACGCTGC	0.622000														10			7		0	0	0.006214	0	0
SLC9A4	389015	broad.mit.edu	37	2	103148806	103148806	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:103148806C>T	uc002tbz.4	+	11	2513	c.2056C>T	c.(2056-2058)Cca>Tca	p.P686S		NM_001011552	NP_001011552	Q6AI14	SL9A4_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 4 (SLC9A4), mRNA.	686					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						CAGCAGTGATCCAGGATCCCC	0.453000														56			22		0	0	0.002299	0	0
BCL9	607	broad.mit.edu	37	1	147095669	147095669	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:147095669C>T	uc001epq.3	+	9	3930	c.3190C>T	c.(3190-3192)Cga>Tga	p.R1064*	BCL9_uc010ozr.1_Intron	NM_004326	NP_004317	O00512	BCL9_HUMAN	Homo sapiens B-cell CLL/lymphoma 9 (BCL9), mRNA.	1064	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding			breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					ACAGAATCCTCGAATTTCAGG	0.403000			T	"""IGH@, IGL@"""	B-ALL									106			57		0	0	0.003610	0	0
PRDM16	63976	broad.mit.edu	37	1	3331170	3331170	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:3331170G>A	uc001akf.3	+	9	2732	c.2650G>A	c.(2650-2652)Gag>Aag	p.E884K	PRDM16_uc001ake.3_Missense_Mutation_p.E884K|PRDM16_uc009vlh.3_Missense_Mutation_p.E584K|PRDM16_uc001akc.3_Missense_Mutation_p.E883K	NM_022114	NP_071397	Q9HAZ2	PRD16_HUMAN	Homo sapiens PR domain containing 16 (PRDM16), transcript variant 1, mRNA.	884	Interaction with CTBP1 and CTBP2 (By similarity).|Mediates interaction with SKI and regulation of TGF-beta signaling.				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		AGCCCTGAAGGAGAAGTACCT	0.667000			T	EVI1	"""MDS, AML"""									16			5		0	0	0.001168	0	0
TMEM132B	114795	broad.mit.edu	37	12	126139205	126139205	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:126139205G>A	uc001uhe.1	+	8	3194	c.3186G>A	c.(3184-3186)ggG>ggA	p.G1062G	TMEM132B_uc001uhf.1_Silent_p.G574G|TMEM132B_uc021rgm.1_5'Flank	NM_052907	NP_443139	Q14DG7	T132B_HUMAN	Homo sapiens transmembrane protein 132B (TMEM132B), mRNA.	1062						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)		TGGGGCTGGGGGATTCACAGG	0.458000														53			31		0	0	0.003755	0	0
KRT78	196374	broad.mit.edu	37	12	53233556	53233556	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:53233556C>T	uc001sbc.1	-	6	1324	c.1260G>A	c.(1258-1260)gaG>gaA	p.E420E		NM_173352	NP_775487	Q8N1N4	K2C78_HUMAN	Homo sapiens keratin 78 (KRT78), mRNA.	420	Coil 2.|Rod.					keratin filament	protein binding|structural molecule activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						ACCTGCACTCCTCGCCCTCCA	0.587000														20			15		0	0	0.003163	0	0
SLC12A8	84561	broad.mit.edu	37	3	124826485	124826485	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:124826485G>A	uc003ehw.4	-	9	1702	c.1632C>T	c.(1630-1632)ttC>ttT	p.F544F	SLC12A8_uc003ehv.4_Silent_p.F515F|SLC12A8_uc003eht.4_Silent_p.F316F|SLC12A8_uc010hry.3_Silent_p.F268F	NM_024628	NP_078904	A0AV02	S12A8_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 8 (SLC12A8), transcript variant 1, mRNA.	515					potassium ion transport	integral to membrane	symporter activity			endometrium(2)|kidney(2)|lung(12)	16						TCTCGACAGGGAAAGAAGGAG	0.557000														46			27		0	0	0.008361	0	0
ZNF536	9745	broad.mit.edu	37	19	30935403	30935403	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:30935403G>A	uc002nsu.1	+	1	1072	c.934G>A	c.(934-936)Gag>Aag	p.E312K	ZNF536_uc010edd.1_Missense_Mutation_p.E312K	NM_014717	NP_055532	O15090	ZN536_HUMAN	Homo sapiens zinc finger protein 536 (ZNF536), mRNA.	312					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.E312A(1)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GGCTTCGCAGGAGGAGGAGCT	0.642000														64			41		0	0	0.003610	0	0
DNPEP	23549	broad.mit.edu	37	2	220246092	220246092	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:220246092G>A	uc002vle.2	-	12	1350	c.1204C>T	c.(1204-1206)Cga>Tga	p.R402*	DNPEP_uc002vli.2_Nonsense_Mutation_p.R349*|DNPEP_uc010zlg.2_Nonsense_Mutation_p.R410*	NM_012100	NP_036232	Q9ULA0	DNPEP_HUMAN	Homo sapiens aspartyl aminopeptidase (DNPEP), mRNA.	392					peptide metabolic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding			breast(3)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Renal(207;0.0474)		Epithelial(149;1.09e-06)|all cancers(144;0.000179)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	L-Glutamic Acid(DB00142)	GCCACCTCTCGGATCAGGGCC	0.602000														156			75		0	0	0.003610	0	0
F5	2153	broad.mit.edu	37	1	169541483	169541483	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:169541483T>A	uc001ggg.1	-	2	494	c.349A>T	c.(349-351)Att>Ttt	p.I117F	F5_uc010plr.1_Non-coding_Transcript	NM_000130	NP_000121	P12259	FA5_HUMAN	Homo sapiens coagulation factor V (proaccelerin, labile factor) (F5), mRNA.	117	F5/8 type A 1.|Plastocyanin-like 1.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	CTGTACCTAATTCCTTGAGGA	0.333000														36			14		0	0	0.003163	0	0
SDK1	221935	broad.mit.edu	37	7	4014075	4014075	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:4014075C>T	uc003smx.3	+	12	2031	c.1892C>T	c.(1891-1893)tCc>tTc	p.S631F		NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA.	631	Ig-like C2-type 6.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		AAGGACGGGTCCCTTCTCATC	0.572000														36			6		0	0	0.001984	0	0
ZNF518B	85460	broad.mit.edu	37	4	10447215	10447215	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:10447215G>A	uc003gmn.3	-	2	1225	c.738C>T	c.(736-738)tcC>tcT	p.S246S	ZNF518B_uc021xme.1_Silent_p.S246S	NM_053042	NP_444270	Q9C0D4	Z518B_HUMAN	Homo sapiens zinc finger protein 518B (ZNF518B), mRNA.	246					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						TCCGTGGATTGGAAGCTTTTA	0.433000														123			69		0	0	0.003610	0	0
TAAR6	319100	broad.mit.edu	37	6	132891844	132891844	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:132891844C>T	uc011eck.2	+	0	384	c.384C>T	c.(382-384)atC>atT	p.I128I		NM_175067	NP_778237	Q96RI8	TAAR6_HUMAN	Homo sapiens trace amine associated receptor 6 (TAAR6), mRNA.	128						plasma membrane	G-protein coupled receptor activity	p.I128I(2)		cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(19)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.006)|GBM - Glioblastoma multiforme(226;0.00792)		TCATCTCCATCGACAGGTACA	0.483000														168			48		0	0	0.003610	0	0
IGFL2	147920	broad.mit.edu	37	19	46664135	46664135	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:46664135A>T	uc002peb.3	+	3	662	c.371A>T	c.(370-372)gAa>gTa	p.E124V	IGFL2_uc010xxv.2_Missense_Mutation_p.E113V	NM_001002915	NP_001002915	Q6UWQ7	IGFL2_HUMAN	Homo sapiens IGF-like family member 2 (IGFL2), transcript variant 1, mRNA.	113						extracellular region	protein binding			cervix(1)|lung(5)	6		Ovarian(192;0.0908)|all_neural(266;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(486;0.031)|Epithelial(262;0.247)		AGTAAATGTGAAAGGTAGGGA	0.527000														30			13		0	0	0.001855	0	0
GRIA1	2890	broad.mit.edu	37	5	153149806	153149806	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:153149806G>A	uc011dcy.2	+	12	2158	c.2131G>A	c.(2131-2133)Gag>Aag	p.E711K	GRIA1_uc003lva.4_Missense_Mutation_p.E701K|GRIA1_uc003luy.4_Missense_Mutation_p.E701K|GRIA1_uc003luz.4_Missense_Mutation_p.E606K|GRIA1_uc011dcv.2_Non-coding_Transcript|GRIA1_uc011dcw.2_Missense_Mutation_p.E621K|GRIA1_uc011dcx.2_Missense_Mutation_p.E632K|GRIA1_uc011dcz.2_Missense_Mutation_p.E711K	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	Homo sapiens glutamate receptor, ionotropic, AMPA 1 (GRIA1), transcript variant 2, mRNA.	701					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	p.S710T(1)		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)	GCGGACCACAGAGGAGGGGAT	0.478000														46			12		0	0	0.001368	0	0
GALNTL5	168391	broad.mit.edu	37	7	151664346	151664346	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:151664346A>G	uc003wkp.3	+	1	285	c.15A>G	c.(13-15)atA>atG	p.I5M	GALNTL5_uc010lqf.3_5'UTR|GALNTL5_uc003wkq.3_5'UTR|GALNTL5_uc003wkr.3_Non-coding_Transcript|GALNTL5_uc003wks.3_Non-coding_Transcript	NM_145292	NP_660335	Q7Z4T8	GLTL5_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5 (GALNTL5), transcript variant 1, mRNA.	5						Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(11)|ovary(2)|prostate(2)|skin(3)	32	all_neural(206;0.187)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00427)	UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166)		GAAATGCCATAATTCAAGGTT	0.353000														50			14		0	0	0.003163	0	0
CCL24	6369	broad.mit.edu	37	7	75441142	75441142	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:75441142C>T	uc011kga.2	-	2	391	c.332G>A	c.(331-333)aGa>aAa	p.R111K		NM_002991	NP_002982	O00175	CCL24_HUMAN	Homo sapiens chemokine (C-C motif) ligand 24 (CCL24), mRNA.	111					cell-cell signaling|chemotaxis|immune response|inflammatory response|positive regulation of Rac GTPase activity|positive regulation of actin filament polymerization|positive regulation of cell migration|positive regulation of endothelial cell proliferation|signal transduction	extracellular space	chemokine activity			endometrium(1)|lung(2)	3						GCCAGGATATCTCTGGACAGG	0.622000														31			8		0	0	0.003080	0	0
CHRNA6	8973	broad.mit.edu	37	8	42611871	42611871	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:42611871G>A	uc003xpj.3	-	4	827	c.471C>T	c.(469-471)tcC>tcT	p.S157S	CHRNA6_uc011lcw.2_Silent_p.S142S	NM_004198	NP_004189	Q15825	ACHA6_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 6 (CHRNA6), transcript variant 1, mRNA.	157						cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			endometrium(2)|large_intestine(3)|liver(1)|lung(15)|ovary(1)	22	all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00439)|Lung NSC(58;0.0124)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	Lung(22;0.0252)|LUSC - Lung squamous cell carcinoma(45;0.0869)			CCATAGGGCAGGAACTCTTAA	0.393000														72			31		0	0	0.002096	0	0
MUC15	143662	broad.mit.edu	37	11	26584811	26584811	+	Splice_Site	SNP	T	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:26584811T>A	uc001mqw.3	-	4	1049	c.776_splice	c.e4-1	p.E259_splice	ANO3_uc010rdr.2_Intron|ANO3_uc001mqt.4_Intron|ANO3_uc010rds.2_Intron|ANO3_uc010rdt.2_Intron|MUC15_uc001mqx.3_Splice_Site_p.E232_splice|MUC15_uc001mqy.3_Intron	NM_001135091	NP_663625	Q8N387	MUC15_HUMAN	Homo sapiens mucin 15, cell surface associated (MUC15), transcript variant 1, mRNA.	232						extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25						TATTTCTATTTTCTACAGGAC	0.318000														29			11		0	0	0.008291	0	0
IL11RA	3590	broad.mit.edu	37	9	34655248	34655248	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:34655248C>T	uc003zvi.3	+	1	1390	c.34C>T	c.(34-36)Ctg>Ttg	p.L12L	IL11RA_uc011loq.2_Silent_p.L12L|IL11RA_uc003zvj.3_Silent_p.L12L|IL11RA_uc003zvk.3_Silent_p.L12L|IL11RA_uc010mke.3_5'UTR	NM_004512	NP_004503	Q14626	I11RA_HUMAN	Homo sapiens interleukin 11 receptor, alpha (IL11RA), transcript variant 1, mRNA.	12						integral to plasma membrane	cytokine receptor activity			breast(1)|large_intestine(1)|ovary(1)|skin(1)	4	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.174)	Oprelvekin(DB00038)	GAGCAGGGTCCTGGTGGCCGT	0.637000														10			12		0	0	0.003163	0	0
RASSF5	83593	broad.mit.edu	37	1	206711525	206711525	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:206711525A>T	uc001hed.3	+	1	539	c.482A>T	c.(481-483)gAa>gTa	p.E161V	RASSF5_uc001hec.1_Missense_Mutation_p.E161V|RASSF5_uc001hee.3_Missense_Mutation_p.E161V	NM_182663	NP_872604	Q8WWW0	RASF5_HUMAN	Homo sapiens Ras association (RalGDS/AF-6) domain family member 5 (RASSF5), transcript variant 1, mRNA.	161					apoptosis|intracellular signal transduction	cytoplasm|microtubule	metal ion binding|protein binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	8	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			TGTCACCCAGAATGCCGCAGC	0.527000														60			34		0	0	0.004878	0	0
CYP1A2	1544	broad.mit.edu	37	15	75042853	75042853	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:75042853G>A	uc002ayr.1	+	1	838	c.774G>A	c.(772-774)caG>caA	p.Q258Q		NM_000761	NP_000752	P05177	CP1A2_HUMAN	Homo sapiens cytochrome P450, family 1, subfamily A, polypeptide 2 (CYP1A2), mRNA.	258					alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33					Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315)	CCTTCAACCAGAGGTTCCTGT	0.597000														32			19		0	0	0.002780	0	0
GPR149	344758	broad.mit.edu	37	3	154055947	154055947	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:154055947C>T	uc003faa.3	-	3	1837	c.1737G>A	c.(1735-1737)ggG>ggA	p.G579G		NM_001038705	NP_001033794	Q86SP6	GP149_HUMAN	Homo sapiens G protein-coupled receptor 149 (GPR149), mRNA.	579						integral to membrane|plasma membrane	G-protein coupled receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			TTATTTTTTGCCCTTCTGCGC	0.458000														131			71		0	0	0.003610	0	0
COL14A1	7373	broad.mit.edu	37	8	121357668	121357669	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:121357668_121357669CC>TT	uc003yox.3	+	44	5208_5209	c.4943_4944CC>TT	c.(4942-4944)tcc>tTT	p.S1648F	COL14A1_uc003yoz.3_Missense_Mutation_p.S613F	NM_021110	NP_066933	Q05707	COEA1_HUMAN	Homo sapiens collagen, type XIV, alpha 1 (COL14A1), mRNA.	1648					cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			CACTCCTCATCCATCCGGACTG	0.589000														53			12		0	0	0.004672	0	0
SPRR3	6707	broad.mit.edu	37	1	152975848	152975848	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:152975848C>T	uc021ozo.1	+	0	352	c.352C>T	c.(352-354)Cct>Tct	p.P118S	SPRR3_uc001fax.4_Missense_Mutation_p.P118S|SPRR3_uc001faz.4_Missense_Mutation_p.P118S|SPRR3_uc001fay.2_Missense_Mutation_p.P110S	NM_005416	NP_005407	Q9UBC9	SPRR3_HUMAN	Homo sapiens small proline-rich protein 3 (SPRR3), transcript variant 1, mRNA.	118	14 X 8 AA approximate tandem repeats.				keratinization|peptide cross-linking|wound healing	cytoplasm	protein binding|structural molecule activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	11	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CATCAAGGTCCCTGACCAAGG	0.557000														28			11		0	0	0.000978	0	0
OR1A1	8383	broad.mit.edu	37	17	3119786	3119786	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:3119786G>A	uc010vrc.2	+	0	872	c.872G>A	c.(871-873)aGa>aAa	p.R291K		NM_014565	NP_055380	Q9P1Q5	OR1A1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily A, member 1 (OR1A1), mRNA.	291					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	23						TACAGTCTGAGAAATCGGGAC	0.458000														68			21		0	0	0.003954	0	0
OTOS	150677	broad.mit.edu	37	2	241078603	241078603	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:241078603G>A	uc002vyv.3	-	3	409	c.254C>T	c.(253-255)cCc>cTc	p.P85L	MYEOV2_uc002vyu.1_5'Flank|MYEOV2_uc010zof.1_5'Flank	NM_148961	NP_683764	Q8NHW6	OTOSP_HUMAN	Homo sapiens otospiralin (OTOS), mRNA.	85						extracellular region				endometrium(2)|large_intestine(1)|lung(3)	6		all_epithelial(40;2.79e-15)|Breast(86;3.04e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|Hepatocellular(293;0.148)|all_hematologic(139;0.158)|Melanoma(123;0.16)		Epithelial(32;2.56e-30)|all cancers(36;7.18e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.37e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;8.07e-06)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)|Colorectal(34;0.019)|COAD - Colon adenocarcinoma(134;0.141)		CTCCTGATAGGGAACGTGGAA	0.662000														25			10		0	0	0.008291	0	0
PAK1IP1	55003	broad.mit.edu	37	6	10705067	10705067	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:10705067C>T	uc003mzg.3	+	6	761	c.730C>T	c.(730-732)Cat>Tat	p.H244Y		NM_017906	NP_060376	Q9NWT1	PK1IP_HUMAN	Homo sapiens PAK1 interacting protein 1 (PAK1IP1), mRNA.	244					negative regulation of signal transduction	nucleolus|plasma membrane				kidney(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	12	Ovarian(93;0.107)|Breast(50;0.137)	all_hematologic(90;0.117)				ATTTAAAGCTCATGAAAACAG	0.358000														59			26		0	0	0.003954	0	0
SERPINA12	145264	broad.mit.edu	37	14	94962913	94962913	+	Silent	SNP	A	G	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:94962913A>G	uc001ydj.3	-	3	1498	c.702T>C	c.(700-702)agT>agC	p.S234S		NM_173850	NP_776249	Q8IW75	SPA12_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12 (SERPINA12), mRNA.	234					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33				COAD - Colon adenocarcinoma(157;0.235)		CCTTGACTGAACTGTTTTTCT	0.398000														79			38		0	0	0.006999	0	0
CNOT1	23019	broad.mit.edu	37	16	58576357	58576358	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:58576357_58576358GG>AA	uc002env.3	-	31	4842_4843	c.4549_4550CC>TT	c.(4549-4551)cct>TTt	p.P1517F	CNOT1_uc002enw.3_Non-coding_Transcript|CNOT1_uc002enu.4_Missense_Mutation_p.P1512F|CNOT1_uc010vik.2_Missense_Mutation_p.P474F	NM_016284	NP_057368	A5YKK6	CNOT1_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 1 (CNOT1), transcript variant 1, mRNA.	1517					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		GTCCATCTCAGGGCCTGCTTTT	0.386000														192			66		0	0	0.004672	0	0
TMC5	79838	broad.mit.edu	37	16	19505676	19505676	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:19505676G>A	uc002dgc.4	+	19	3668	c.2919G>A	c.(2917-2919)agG>agA	p.R973R	TMC5_uc010vaq.2_Silent_p.R921R|TMC5_uc002dgb.4_Silent_p.R915R|TMC5_uc010var.2_Silent_p.R973R|TMC5_uc002dge.4_Silent_p.R727R|TMC5_uc002dgf.4_Silent_p.R656R|TMC5_uc002dgg.4_Silent_p.R614R	NM_001105248	NP_001098718	Q6UXY8	TMC5_HUMAN	Homo sapiens transmembrane channel-like 5 (TMC5), transcript variant 1, mRNA.	973						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						TTCTGGAAAGGAGAGAGGTGG	0.498000														64			25		0	0	0.003330	0	0
TNKS1BP1	85456	broad.mit.edu	37	11	57076696	57076696	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:57076696G>A	uc001njr.3	-	4	3801	c.3489C>T	c.(3487-3489)gaC>gaT	p.D1163D	TNKS1BP1_uc001njs.3_Silent_p.D1163D|TNKS1BP1_uc009ymd.1_Silent_p.D614D	NM_033396	NP_203754	Q9C0C2	TB182_HUMAN	Homo sapiens tankyrase 1 binding protein 1, 182kDa (TNKS1BP1), mRNA.	1163	Acidic.|Gly-rich.				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding	p.T1162N(1)		breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				GACCCAGCTGGTCAGTCCAGT	0.602000														36			21		0	0	0.001882	0	0
LCTL	197021	broad.mit.edu	37	15	66845568	66845568	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:66845568C>T	uc002aqc.3	-	8	1083	c.951G>A	c.(949-951)gaG>gaA	p.E317E	LCTL_uc002aqd.4_Silent_p.E144E|LCTL_uc010bhw.3_Silent_p.E15E	NM_207338	NP_997221	Q6UWM7	LCTL_HUMAN	Homo sapiens lactase-like (LCTL), mRNA.	317					carbohydrate metabolic process	endoplasmic reticulum membrane|integral to membrane	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						ACCTCGACATCTCCAGGCCTT	0.428000														129			28		0	0	0.001786	0	0
DMPK	1760	broad.mit.edu	37	19	46281006	46281006	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:46281006G>A	uc002pdi.1	-	7	1065	c.879C>T	c.(877-879)ttC>ttT	p.F293F	DMPK_uc010xxs.1_Silent_p.F178F|DMPK_uc002pdd.1_Silent_p.F277F|DMPK_uc002pde.1_Silent_p.F277F|DMPK_uc002pdg.1_Silent_p.F267F|DMPK_uc002pdf.1_Silent_p.F267F|DMPK_uc002pdh.1_Silent_p.F267F|DMPK_uc010xxt.1_Silent_p.F267F	NM_001081563	NP_001075032	Q09013	DMPK_HUMAN	Homo sapiens dystrophia myotonica-protein kinase (DMPK), transcript variant 1, mRNA.	277	Protein kinase.				regulation of heart contraction		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			endometrium(5)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)|urinary_tract(2)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00616)|GBM - Glioblastoma multiforme(486;0.0825)|Epithelial(262;0.24)		TTTCATAGGCGAATACACCCA	0.632000														78			42		0	0	0.007835	0	0
SIGLEC10	89790	broad.mit.edu	37	19	51914608	51914608	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:51914608C>T	uc002pwo.3	-	10	2061	c.1839G>A	c.(1837-1839)caG>caA	p.Q613Q	SIGLEC10_uc002pwp.3_Silent_p.Q555Q|SIGLEC10_uc021uyl.1_Silent_p.Q435Q|SIGLEC10_uc002pwq.3_Silent_p.Q460Q|SIGLEC10_uc010ycz.2_Silent_p.Q470Q|SIGLEC10_uc002pws.2_Silent_p.Q370Q|SIGLEC10_uc002pwr.3_Silent_p.Q518Q|SIGLEC10_uc010ycy.2_Silent_p.Q428Q|SIGLEC10_uc010eow.3_Silent_p.Q330Q	NM_033130	NP_149121	Q96LC7	SIG10_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 10 (SIGLEC10), transcript variant 1, mRNA.	613					cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		GTGTGGCTTTCTGATTCCGCT	0.498000														56			21		0	0	0.001882	0	0
BTAF1	9044	broad.mit.edu	37	10	93751878	93751880	+	Missense_Mutation	DNP	TC	GA	GA			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:93751878_93751880TC>GA	uc001khr.3	+	20	2955_2957	c.2857_2859TC>GA	c.(2857-2859)tcc>GA	p.S953del	BTAF1_uc001kht.1_Missense_Mutation_p.S391del	NM_003972	NP_003963	O14981	BTAF1_HUMAN	Homo sapiens BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa (Mot1 homolog, S. cerevisiae) (BTAF1), mRNA.	953					negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				CTTATTAGGATCCACCTCAGAAA	0.355000														31			6		0	0	0.004672	0	0
TMEM184A	202915	broad.mit.edu	37	7	1586623	1586624	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:1586623_1586624CC>TT	uc003skv.4	-	8	1523_1524	c.1206_1207GG>AA	c.(1204-1209)ctggag>ctAAag	p.E403K	TMEM184A_uc003skt.4_Missense_Mutation_p.E382K|TMEM184A_uc021zyr.1_Missense_Mutation_p.E208K	NM_001097620	NP_001091089	Q6ZMB5	T184A_HUMAN	Homo sapiens transmembrane protein 184A (TMEM184A), mRNA.	403						integral to membrane				endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	12		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)		ATCCGCTTCTCCAGGCTCCGGC	0.718000														16			14		0	0	0.004672	0	0
NEBL	10529	broad.mit.edu	37	10	21108351	21108351	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:21108351G>A	uc001iqi.3	-	20	2452	c.2055_splice	c.e20+1	p.A685_splice	NEBL_uc001iqj.3_Non-coding_Transcript|NEBL_uc001iqk.3_Intron|NEBL_uc021pnu.1_Intron	NM_006393	NP_006384	O76041	NEBL_HUMAN	Homo sapiens nebulette (NEBL), transcript variant 1, mRNA.	685					regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						GAAACGACTTGCCGCACTCAG	0.423000														151			67		0	0	0.003610	0	0
TMPRSS3	64699	broad.mit.edu	37	21	43800270	43800270	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr21:43800270C>T	uc002zbb.2	-	9	1205	c.1004G>A	c.(1003-1005)gGa>gAa	p.G335E	TMPRSS3_uc002zay.2_Missense_Mutation_p.G93E|TMPRSS3_uc002zaz.2_Missense_Mutation_p.G208E|TMPRSS3_uc002zba.2_Missense_Mutation_p.G208E|TMPRSS3_uc002zbc.2_Missense_Mutation_p.G335E	NM_024022	NP_076927	P57727	TMPS3_HUMAN	Homo sapiens transmembrane protease, serine 3 (TMPRSS3), transcript variant A, mRNA.	335	Peptidase S1.				cellular sodium ion homeostasis|proteolysis	endoplasmic reticulum membrane|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity|sodium channel regulator activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(4)|skin(1)	13						GCACACTTTTCCATCGGGGAA	0.552000														19			9		0	0	0.008291	0	0
SPHKAP	80309	broad.mit.edu	37	2	228855764	228855764	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:228855764C>T	uc002vpq.2	-	10	4958	c.4911G>A	c.(4909-4911)ggG>ggA	p.G1637G	SPHKAP_uc002vpp.2_Silent_p.G1608G|SPHKAP_uc010zlx.1_Intron	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	1637						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TGGTGGGAATCCCCAGTTCAG	0.483000														40			11		0	0	0.000978	0	0
OR13H1	347468	broad.mit.edu	37	X	130678879	130678879	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chrX:130678879G>A	uc011muw.2	+	0	832	c.832G>A	c.(832-834)Gga>Aga	p.G278R	IGSF1_uc004ewf.2_Intron	NM_001004486	NP_001004486	Q8NG92	O13H1_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily H, member 1 (OR13H1), mRNA.	278					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)					AGTGTTTTATGGAGCTTTGAC	0.423000														22			38		0	0	0.004289	0	0
TMEM108	66000	broad.mit.edu	37	3	133099807	133099807	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:133099807C>T	uc003epi.3	+	3	1522	c.1252C>T	c.(1252-1254)Ctc>Ttc	p.L418F	TMEM108_uc003eph.3_Missense_Mutation_p.L418F|TMEM108_uc003epj.1_Missense_Mutation_p.L418F|TMEM108_uc003epk.3_Intron	NM_001136469	NP_076432	Q6UXF1	TM108_HUMAN	Homo sapiens transmembrane protein 108 (TMEM108), transcript variant 2, mRNA.	418						integral to membrane				endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						GCCCAGTCCTCTCTCCACAGT	0.612000														29			10		0	0	0.008291	0	0
C16orf58	64755	broad.mit.edu	37	16	31503562	31503562	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:31503562G>A	uc002eci.2	-	10	1199	c.1187C>T	c.(1186-1188)cCc>cTc	p.P396L	C16orf58_uc002ecg.3_5'Flank|C16orf58_uc002ech.2_Missense_Mutation_p.P134L	NM_022744	NP_073581	Q96GQ5	CP058_HUMAN	Homo sapiens chromosome 16 open reading frame 58 (C16orf58), mRNA.	396						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)	14						TGCTGGAAGGGGTCCATCTCC	0.607000														25			9		0	0	0.006214	0	0
ZSCAN29	146050	broad.mit.edu	37	15	43653936	43653936	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:43653936C>T	uc001zrk.1	-	4	2041	c.1894G>A	c.(1894-1896)Gag>Aag	p.E632K	ZSCAN29_uc001zrj.1_Missense_Mutation_p.E512K|ZSCAN29_uc010bdg.1_Missense_Mutation_p.E242K|ZSCAN29_uc010bdf.1_3'UTR|ZSCAN29_uc001zrl.1_Non-coding_Transcript	NM_152455	NP_689668	Q8IWY8	ZSC29_HUMAN	Homo sapiens zinc finger and SCAN domain containing 29 (ZSCAN29), mRNA.	632					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(7)|skin(2)	24		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.97e-07)		AAGCTCTTCTCCGGGAGTGTC	0.463000														98			49		0	0	0.003610	0	0
IGFL2	147920	broad.mit.edu	37	19	46663963	46663963	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:46663963G>A	uc002peb.3	+	3	490	c.199G>A	c.(199-201)Gcc>Acc	p.A67T	IGFL2_uc010xxv.2_Missense_Mutation_p.A56T	NM_001002915	NP_001002915	Q6UWQ7	IGFL2_HUMAN	Homo sapiens IGF-like family member 2 (IGFL2), transcript variant 1, mRNA.	56						extracellular region	protein binding	p.D66D(1)		cervix(1)|lung(5)	6		Ovarian(192;0.0908)|all_neural(266;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(486;0.031)|Epithelial(262;0.247)		TTACAATGACGCCATCGTGTC	0.592000														195			30		0	0	0.006320	0	0
F5	2153	broad.mit.edu	37	1	169525915	169525915	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:169525915G>A	uc001ggg.1	-	5	1066	c.921C>T	c.(919-921)atC>atT	p.I307I	F5_uc010plr.1_Non-coding_Transcript	NM_000130	NP_000121	P12259	FA5_HUMAN	Homo sapiens coagulation factor V (proaccelerin, labile factor) (F5), mRNA.	307	F5/8 type A 1.|Plastocyanin-like 2.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	GAGAAGATATGATCCACTTTC	0.483000														22			20		0	0	0.008871	0	0
FPGT-TNNI3K	100526835	broad.mit.edu	37	1	74819684	74819684	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:74819684C>T	uc001dge.2	+	12	1418	c.1351C>T	c.(1351-1353)Cac>Tac	p.H451Y	FPGT-TNNI3K_uc001dgc.2_Missense_Mutation_p.H451Y|FPGT-TNNI3K_uc001dgd.3_Missense_Mutation_p.H451Y|FPGT-TNNI3K_uc001dgf.2_Missense_Mutation_p.H350Y	NM_001112808	NP_001106279	Q59H18	TNI3K_HUMAN	Homo sapiens FPGT-TNNI3K readthrough (FPGT-TNNI3K), transcript variant 1, mRNA.	350						cytoplasm|nucleus	ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding										TGCTTGCTACCACGGTCACAT	0.408000														45			18		0	0	0.007413	0	0
MTRF1	9617	broad.mit.edu	37	13	41797443	41797443	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr13:41797443G>A	uc010tff.2	-	9	1431	c.1212C>T	c.(1210-1212)acC>acT	p.T404T	MTRF1_uc001uxx.3_Silent_p.T391T|MTRF1_uc001uxy.3_Silent_p.T391T|MTRF1_uc001uxz.3_Silent_p.T227T|AK056182_uc001uxv.1_Intron			O75570	RF1M_HUMAN	Homo sapiens mitochondrial translational release factor 1 (MTRF1), nuclear gene encoding mitochondrial protein, mRNA.	391					regulation of translational termination	mitochondrion	translation release factor activity, codon specific			breast(1)|endometrium(4)|large_intestine(3)|lung(6)	14		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)|Ovarian(182;0.125)		OV - Ovarian serous cystadenocarcinoma(117;4.24e-10)|all cancers(112;2.05e-09)|Epithelial(112;2.48e-09)|GBM - Glioblastoma multiforme(144;0.00115)|BRCA - Breast invasive adenocarcinoma(63;0.0721)|KIRC - Kidney renal clear cell carcinoma(186;0.248)		CTCTATCCTGGGTGAAATTAT	0.363000														136			36		0	0	0.002522	0	0
COL5A1	1289	broad.mit.edu	37	9	137717665	137717665	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:137717665G>A	uc004cfe.3	+	62	5364	c.4982G>A	c.(4981-4983)gGa>gAa	p.G1661E	BC058547_uc004cff.3_Intron	NM_000093	NP_000084	P20908	CO5A1_HUMAN	Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA.	1661	Fibrillar collagen NC1.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CCTAACCAAGGATGCTCCAGG	0.562000														35			20		0	0	0.003330	0	0
MAEL	84944	broad.mit.edu	37	1	166974571	166974571	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:166974571C>T	uc001gdy.1	+	7	853	c.782C>T	c.(781-783)cCc>cTc	p.P261L	MAEL_uc021peh.1_Missense_Mutation_p.P205L|MAEL_uc001gdz.1_Missense_Mutation_p.P230L|MAEL_uc009wvf.1_Non-coding_Transcript	NM_032858	NP_116247	Q96JY0	MAEL_HUMAN	Homo sapiens maelstrom homolog (Drosophila) (MAEL), mRNA.	261					DNA methylation involved in gamete generation|cell differentiation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis	piP-body	DNA binding			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4)	28						CTCAAGGAGCCCTCTAAGACT	0.398000														38			25		0	0	0.004656	0	0
RXFP2	122042	broad.mit.edu	37	13	32349493	32349493	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr13:32349493G>A	uc001utt.3	+	6	679	c.608G>A	c.(607-609)gGa>gAa	p.G203E	RXFP2_uc010aba.3_Missense_Mutation_p.G203E	NM_130806	NP_570718	Q8WXD0	RXFP2_HUMAN	Homo sapiens relaxin/insulin-like family peptide receptor 2 (RXFP2), transcript variant 1, mRNA.	203						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)		CTCAGACCTGGAATATTCAAA	0.358000														64			15		0	0	0.008871	0	0
PAFAH1B1	5048	broad.mit.edu	37	17	2583502	2583502	+	Silent	SNP	G	A	A	rs141525497		TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:2583502G>A	uc002fuw.4	+	9	1615	c.1047G>A	c.(1045-1047)ggG>ggA	p.G349G	PAFAH1B1_uc010ckb.2_Intron|PAFAH1B1_uc010vqz.2_Silent_p.G144G	NM_000430	NP_000421	P43034	LIS1_HUMAN	Homo sapiens platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa) (PAFAH1B1), mRNA.	349	Interaction with dynein and dynactin.				G2/M transition of mitotic cell cycle|acrosome assembly|actin cytoskeleton organization|adult locomotory behavior|brain morphogenesis|corpus callosum morphogenesis|establishment of mitotic spindle orientation|hippocampus development|layer formation in cerebral cortex|learning or memory|lipid catabolic process|microtubule organizing center organization|mitotic prometaphase|neuroblast proliferation|neuromuscular process controlling balance|neuron migration|platelet activating factor metabolic process|regulation of Rho GTPase activity|retrograde axon cargo transport|synaptic transmission|vesicle transport along microtubule	astral microtubule|cell cortex|centrosome|cytosol|kinetochore|motile primary cilium|nuclear membrane|perinuclear region of cytoplasm	dynactin binding|heparin binding|microtubule binding|phospholipase binding|phosphoprotein binding|protein homodimerization activity			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(1)|skin(1)	11						TCCATTCTGGGGGGAAGTTTA	0.408000														124			32		0	0	0.004289	0	0
ITLN1	55600	broad.mit.edu	37	1	160850994	160850994	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:160850994C>T	uc001fxc.3	-	4	630	c.514G>A	c.(514-516)Gac>Aac	p.D172N		NM_017625	NP_060095	Q8WWA0	ITLN1_HUMAN	Homo sapiens intelectin 1 (galactofuranose binding) (ITLN1), mRNA.	172	Fibrinogen C-terminal.				positive regulation of glucose import|positive regulation of protein phosphorylation|response to nematode|signal transduction	anchored to membrane|brush border membrane|extracellular region|membrane raft	receptor binding|sugar binding	p.T171T(1)|p.T171K(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	21	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			AAGCCAGTGTCCGTGCGGTAC	0.562000														69			20		0	0	0.002299	0	0
SF3A1	10291	broad.mit.edu	37	22	30741170	30741170	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr22:30741170G>A	uc003ahl.3	-	3	535	c.403C>T	c.(403-405)Caa>Taa	p.Q135*	SF3A1_uc021wnt.1_Intron	NM_005877	NP_005868	Q15459	SF3A1_HUMAN	Homo sapiens splicing factor 3a, subunit 1, 120kDa (SF3A1), transcript variant 1, mRNA.	135					nuclear mRNA 3'-splice site recognition	U2-type spliceosomal complex|catalytic step 2 spliceosome|nucleoplasm	RNA binding|protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1)	29						TGGATTACTTGGGCTTGGACC	0.562000														104			29		0	0	0.003271	0	0
CACNA1E	777	broad.mit.edu	37	1	181727961	181727961	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:181727961T>A	uc009wxt.3	+	31	4757	c.4562T>A	c.(4561-4563)tTt>tAt	p.F1521Y	CACNA1E_uc001gow.3_Missense_Mutation_p.F1521Y|CACNA1E_uc009wxs.3_Missense_Mutation_p.F1502Y|CACNA1E_uc001gox.1_Missense_Mutation_p.F747Y	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	1521					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						ACCATGGTGTTTTCCCTGGAA	0.473000														69			25		0	0	0.008361	0	0
OR7G2	390882	broad.mit.edu	37	19	9213977	9213977	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:9213977C>T	uc010xkk.2	-	0	6	c.6G>A	c.(4-6)ccG>ccA	p.P2P		NM_001005193	NP_001005193	Q8NG99	OR7G2_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily G, member 2 (OR7G2), mRNA.	0					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|skin(3)	16						Gcagctgcatcggcatcactc	0.428000														16			8		0	0	0.003080	0	0
LRRIQ1	84125	broad.mit.edu	37	12	85518099	85518099	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:85518099C>T	uc001tac.3	+	16	3920	c.3809C>T	c.(3808-3810)tCt>tTt	p.S1270F	LRRIQ1_uc021rbo.1_Missense_Mutation_p.S1148F	NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 1 (LRRIQ1), mRNA.	1270										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		TGGATGGACTCTGTCTCCAGC	0.453000														64			29		0	0	0.005443	0	0
OR1D4	653166	broad.mit.edu	37	17	3144062	3144062	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:3144062C>T	uc002fvf.3	+	0	93	c.93C>T	c.(91-93)ttC>ttT	p.F31F						Homo sapiens olfactory receptor, family 1, subfamily D, member 4 (gene/pseudogene) (OR1D4), non-coding RNA.																		TTTGGATGTTCCTGTCCATGT	0.532000														62			6		0	0	0.003080	0	0
SLC2A1	6513	broad.mit.edu	37	1	43395707	43395707	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:43395707C>T	uc001cik.2	-	5	1042	c.517_splice	c.e5-1	p.V173_splice		NM_006516	NP_006507	P11166	GTR1_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 1 (SLC2A1), mRNA.	173					carbohydrate metabolic process|energy reserve metabolic process|regulation of insulin secretion|water-soluble vitamin metabolic process	integral to membrane|melanosome|membrane fraction|midbody	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|pancreas(2)	13	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0122)			Etomidate(DB00292)	GGCCGAACACCTGGGGGAAGC	0.642000														30			4		0	0	0.001168	0	0
ACTL7B	10880	broad.mit.edu	37	9	111617555	111617555	+	Missense_Mutation	SNP	G	A	A	rs146541685		TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:111617555G>A	uc004bdi.3	-	0	721	c.656C>T	c.(655-657)aCc>aTc	p.T219I		NM_006686	NP_006677	Q9Y614	ACL7B_HUMAN	Homo sapiens actin-like 7B (ACTL7B), mRNA.	219						actin cytoskeleton|cytoplasm	structural constituent of cytoskeleton			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						GGCGCGGCTGGTCAGGCCCGG	0.652000														26			10		0	0	0.008291	0	0
RYR3	6263	broad.mit.edu	37	15	33941312	33941312	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:33941312C>T	uc001zhi.3	+	30	4088	c.4018C>T	c.(4018-4020)Cca>Tca	p.P1340S	RYR3_uc010bar.3_Missense_Mutation_p.P1340S	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	1340	4 X approximate repeats.|B30.2/SPRY 3.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.P1340Q(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TGGACAGGATCCATCCTGTGT	0.537000														59			28		0	0	0.002445	0	0
TAF6	6878	broad.mit.edu	37	7	99711359	99711359	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:99711359G>A	uc003uth.3	-	2	585	c.448C>T	c.(448-450)Cct>Tct	p.P150S	TAF6_uc003utg.3_Missense_Mutation_p.P34S|TAF6_uc003utm.3_Missense_Mutation_p.P93S|TAF6_uc003uti.3_Missense_Mutation_p.P93S|TAF6_uc003utk.3_Missense_Mutation_p.P93S|TAF6_uc011kji.2_Missense_Mutation_p.P130S	NM_139315	NP_647476	P49848	TAF6_HUMAN	Homo sapiens TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80kDa (TAF6), transcript variant 2, mRNA.	93					negative regulation of cell cycle|negative regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	MLL1 complex|cytoplasm|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(2)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AAGCGGAAAGGAATGAACTCC	0.597000														19			10		0	0	0.006214	0	0
APC	324	broad.mit.edu	37	5	112175372	112175372	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:112175372C>T	uc003kpz.4	+	16	4274	c.4081C>T	c.(4081-4083)Ccc>Tcc	p.P1361S	APC_uc011cvt.2_Missense_Mutation_p.P1343S|APC_uc003kpy.4_Missense_Mutation_p.P1361S|APC_uc010jbz.3_Missense_Mutation_p.P1078S|APC_uc010jca.3_Missense_Mutation_p.P661S	NM_001127510	NP_001120982	P25054	APC_HUMAN	Homo sapiens adenomatous polyposis coli (APC), transcript variant 2, mRNA.	1361	Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|adherens junction|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.P1361fs*13(38)|p.P1361L(1)|p.K1192fs*3(1)|p.?(1)|p.S1360F(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		AGCGAAATCTCCCTCCAAAAG	0.463000		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)				54			24		0	0	0.003954	0	0
SMARCA4	6597	broad.mit.edu	37	19	11152020	11152020	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:11152020A>G	uc010dxp.3	+	30	4568	c.4208A>G	c.(4207-4209)gAg>gGg	p.E1403G	SMARCA4_uc010dxo.3_Missense_Mutation_p.E1435G|SMARCA4_uc002mqf.4_Missense_Mutation_p.E1403G|SMARCA4_uc010dxq.3_Missense_Mutation_p.E1370G|SMARCA4_uc010dxr.3_Missense_Mutation_p.E1370G|SMARCA4_uc002mqj.4_Missense_Mutation_p.E1373G|SMARCA4_uc010dxs.3_Missense_Mutation_p.E1373G|SMARCA4_uc002mqh.4_Missense_Mutation_p.E493G	NM_001128844	NP_003063	P51532	SMCA4_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 (SMARCA4), transcript variant 2, mRNA.	1403					chromatin remodeling|negative regulation of S phase of mitotic cell cycle|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex|WINAC complex|nBAF complex|npBAF complex|nuclear chromatin	ATP binding|DNA binding|DNA-dependent ATPase activity|androgen receptor binding|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				ATCGAAGAGGAGGTCCGGCAG	0.622000			"""F, N, Mis"""		NSCLC									48			17		0	0	0.006122	0	0
AMIGO3	386724	broad.mit.edu	37	3	49756613	49756613	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:49756613C>T	uc003cxj.3	-	0	626	c.286G>A	c.(286-288)Gaa>Aaa	p.E96K	RNF123_uc003cxh.3_Intron|RNF123_uc003cxi.3_Intron	NM_198722	NP_942015	Q86WK7	AMGO3_HUMAN	Homo sapiens adhesion molecule with Ig-like domain 3 (AMIGO3), mRNA.	96					heterophilic cell-cell adhesion	integral to membrane		p.N95N(1)		endometrium(1)|pancreas(1)|prostate(2)|urinary_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GCATCTAGTTCGTTGTGGTCT	0.667000											OREG0015572	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		29			48		0	0	0.003610	0	0
SIGLEC8	27181	broad.mit.edu	37	19	51960483	51960483	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:51960483G>A	uc002pwt.3	-	2	803	c.736C>T	c.(736-738)Cct>Tct	p.P246S	SIGLEC8_uc010yda.2_Intron|SIGLEC8_uc002pwu.3_Non-coding_Transcript|SIGLEC8_uc010eox.2_Missense_Mutation_p.P153S	NM_014442	NP_055257	Q9NYZ4	SIGL8_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 8 (SIGLEC8), mRNA.	246	Ig-like C2-type 2.				cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		TTCCAAGGAGGGTCTGGGACA	0.557000														30			18		0	0	0.008871	0	0
SLC9A4	389015	broad.mit.edu	37	2	103149106	103149106	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:103149106G>A	uc002tbz.4	+	11	2813	c.2356G>A	c.(2356-2358)Gac>Aac	p.D786N		NM_001011552	NP_001011552	Q6AI14	SL9A4_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 4 (SLC9A4), mRNA.	786					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						ACACGGCAGGGACCATCACAG	0.502000														17			5		0	0	0.001168	0	0
AK302694	0	broad.mit.edu	37	10	30992577	30992577	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:30992577G>A	uc010qdx.1	+	5	1019	c.477G>A	c.(475-477)ggG>ggA	p.G159G						SubName: Full=cDNA FLJ59642, highly similar to Supervillin;																		AGAACCCCGGGGAACTTGCCC	0.438000														129			56		0	0	0.003610	0	0
RBM33	155435	broad.mit.edu	37	7	155530837	155530837	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:155530837A>G	uc010lqk.1	+	10	1845	c.1477A>G	c.(1477-1479)Aac>Gac	p.N493D	RBM33_uc011kvv.1_Missense_Mutation_p.N302D	NM_053043	NP_444271	Q96EV2	RBM33_HUMAN	Homo sapiens RNA binding motif protein 33 (RBM33), mRNA.	493	Pro-rich.						RNA binding|nucleotide binding			breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	27	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)		TACCCTTCTTAACAGTAGCCA	0.517000														63			30		0	0	0.008361	0	0
VSTM4	196740	broad.mit.edu	37	10	50256574	50256574	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:50256574C>T	uc001jhf.2	-	5	753	c.724G>A	c.(724-726)Ggc>Agc	p.G242S		NM_001031746	NP_001026916	Q8IW00	CJ072_HUMAN	Homo sapiens V-set and transmembrane domain containing 4 (VSTM4), transcript variant 1, mRNA.	242						integral to membrane|plasma membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|skin(2)	31						TGCCTCTTGCCCTTCTTGGGC	0.507000														46			22		0	0	0.005443	0	0
CES2	8824	broad.mit.edu	37	16	66976689	66976689	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:66976689G>A	uc002eqr.3	+	10	2612	c.1612_splice	c.e10+1	p.I538_splice	CES2_uc002eqq.3_Intron|CES2_uc002eqs.3_Splice_Site_p.I381_splice	NM_003869	NP_003860	O00748	EST2_HUMAN	Homo sapiens carboxylesterase 2 (CES2), transcript variant 1, mRNA.	474					catabolic process	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			breast(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0663)|Epithelial(162;0.166)		GGCAACTACAGTGAGTCTTCT	0.527000														37			11		0	0	0.001855	0	0
TMPRSS7	344805	broad.mit.edu	37	3	111795758	111795758	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:111795758G>A	uc010hqb.2	+	13	1783	c.1613G>A	c.(1612-1614)gGg>gAg	p.G538E	TMPRSS7_uc011bhr.1_Missense_Mutation_p.G393E	NM_001042575	NP_001036040	Q7RTY8	TMPS7_HUMAN	Homo sapiens transmembrane protease, serine 7 (TMPRSS7), transcript variant 1, mRNA.	664	LDL-receptor class A 2.				proteolysis	integral to membrane|plasma membrane	serine-type endopeptidase activity			breast(2)|endometrium(6)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						GCACACCTCGGGATGTATGTT	0.428000														101			45		0	0	0.002522	0	0
ARHGAP44	9912	broad.mit.edu	37	17	12859201	12859201	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:12859201T>C	uc002gnr.4	+	13	1481	c.1154T>C	c.(1153-1155)tTa>tCa	p.L385S	ARHGAP44_uc010vvk.2_Missense_Mutation_p.L385S|ARHGAP44_uc010vvl.2_Missense_Mutation_p.L385S|ARHGAP44_uc002gns.4_Missense_Mutation_p.L185S|ARHGAP44_uc010vvm.2_Missense_Mutation_p.L385S|ARHGAP44_uc010vvn.2_Non-coding_Transcript|ARHGAP44_uc002gnt.1_Missense_Mutation_p.L108S	NM_014859	NP_055674	Q17R89	RHG44_HUMAN	Homo sapiens Rho GTPase activating protein 44 (ARHGAP44), mRNA.	385	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1)	31						ATAAAATTTTTATCCAAGCTG	0.428000														14			11		0	0	0.000978	0	0
MTMR12	54545	broad.mit.edu	37	5	32230115	32230115	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:32230115G>A	uc003jhq.3	-	15	2183	c.2013C>T	c.(2011-2013)gtC>gtT	p.V671V	MTMR12_uc010iuk.3_Silent_p.V617V|MTMR12_uc010iul.3_Silent_p.V561V	NM_001040446	NP_001035536	Q9C0I1	MTMRC_HUMAN	Homo sapiens myotubularin related protein 12 (MTMR12), mRNA.	671						cytoplasm	phosphatase activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						GTAAACTCTGGACTTCCTCCA	0.582000														102			51		0	0	0.003610	0	0
NLRP3	114548	broad.mit.edu	37	1	247586558	247586558	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:247586558C>T	uc001icr.3	+	3	448	c.310C>T	c.(310-312)Ccc>Tcc	p.P104S	NLRP3_uc001ics.3_Missense_Mutation_p.P104S|NLRP3_uc001icu.3_Missense_Mutation_p.P104S|NLRP3_uc001icw.3_Missense_Mutation_p.P104S|NLRP3_uc001icv.3_Missense_Mutation_p.P104S|NLRP3_uc010pyw.2_Missense_Mutation_p.P102S|NLRP3_uc001ict.1_Missense_Mutation_p.P102S	NM_001079821	NP_001230062	Q96P20	NALP3_HUMAN	Homo sapiens NLR family, pyrin domain containing 3 (NLRP3), transcript variant 3, mRNA.	104					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.P104P(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)			TGTTTCGAATCCCACTGTGAT	0.403000														92			27		0	0	0.007291	0	0
MLL3	58508	broad.mit.edu	37	7	151851144	151851144	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:151851144C>G	uc003wla.3	-	47	12446	c.12227G>C	c.(12226-12228)aGa>aCa	p.R4076T	MLL3_uc003wkz.3_Missense_Mutation_p.R3194T|MLL3_uc003wkx.3_Missense_Mutation_p.R234T|MLL3_uc003wky.3_Missense_Mutation_p.R1640T	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	4076					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)		AAGACCTGATCTGGGACCATT	0.383000			N		medulloblastoma									36			17		0	0	0.004990	0	0
PLEKHM1	9842	broad.mit.edu	37	17	43535769	43535770	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:43535769_43535770GG>AA	uc002ija.3	-	5	1514_1515	c.1344_1345CC>TT	c.(1342-1347)taccgg>taTTgg	p.R449W	PLEKHM1_uc010wjm.2_Missense_Mutation_p.R421W|PLEKHM1_uc002ijb.3_5'UTR|PLEKHM1_uc010wjn.1_Missense_Mutation_p.R398W|PLEKHM1_uc002ijc.3_Intron	NM_014798	NP_055613	Q9Y4G2	PKHM1_HUMAN	Homo sapiens pleckstrin homology domain containing, family M (with RUN domain) member 1 (PLEKHM1), transcript variant 1, mRNA.	449					intracellular signal transduction	cytoplasm	metal ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26	Renal(3;0.0405)					CGGGAAGGCCGGTAGAAGTCAT	0.490000														21			5		0	0	0.004672	0	0
YWHAG	7532	broad.mit.edu	37	7	75959206	75959206	+	Silent	SNP	C	A	A	rs140411299		TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:75959206C>A	uc011kgj.1	-	1	649	c.432G>T	c.(430-432)gcG>gcT	p.A144A		NM_012479	NP_036611	P61981	1433G_HUMAN	Homo sapiens tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma polypeptide (YWHAG), mRNA.	144				AT -> GD (in Ref. 1; AAD48408).	G2/M transition of mitotic cell cycle|regulation of neuron differentiation|regulation of signal transduction|regulation of synaptic plasticity	cytosol	insulin-like growth factor receptor binding|protein kinase C binding|protein kinase C inhibitor activity			endometrium(2)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)	8						CCACCACCGTCGCCCTTTTCT	0.572000														73			38		5.71845e-15	6.94489e-15	0.005524	1	0
POU4F3	5459	broad.mit.edu	37	5	145719179	145719180	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:145719179_145719180GG>AA	uc003loa.2	+	1	278_279	c.189_190GG>AA	c.(187-192)gtggat>gtAAat	p.D64N		NM_002700	NP_002691	Q15319	PO4F3_HUMAN	Homo sapiens POU class 4 homeobox 3 (POU4F3), mRNA.	64					sensory perception of sound|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGGCGGCGGTGGATATCGTCTC	0.599000														51			24		0	0	0.004672	0	0
RUNX1T1	862	broad.mit.edu	37	8	93003912	93003912	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:93003912G>A	uc022axs.1	-	6	1310	c.1123C>T	c.(1123-1125)Cga>Tga	p.R375*	RUNX1T1_uc003yfc.2_Nonsense_Mutation_p.R289*|RUNX1T1_uc010mam.3_Nonsense_Mutation_p.R289*|RUNX1T1_uc003yfe.2_Nonsense_Mutation_p.R279*|RUNX1T1_uc003yfd.3_Nonsense_Mutation_p.R316*|RUNX1T1_uc022axo.1_Nonsense_Mutation_p.R316*|RUNX1T1_uc010mao.3_Nonsense_Mutation_p.R289*|RUNX1T1_uc011lgi.2_Nonsense_Mutation_p.R327*|RUNX1T1_uc022axp.1_Nonsense_Mutation_p.R316*|RUNX1T1_uc022axq.1_Nonsense_Mutation_p.R316*|RUNX1T1_uc022axr.1_Nonsense_Mutation_p.R316*|RUNX1T1_uc022axt.1_Nonsense_Mutation_p.R316*|RUNX1T1_uc022axu.1_Nonsense_Mutation_p.R296*|RUNX1T1_uc022axv.1_Nonsense_Mutation_p.R316*|RUNX1T1_uc010man.2_5'UTR|RUNX1T1_uc003yfb.2_Nonsense_Mutation_p.R279*	NM_001198679	NP_001185608	Q06455	MTG8_HUMAN	Homo sapiens runt-related transcription factor 1; translocated to, 1 (cyclin D-related) (RUNX1T1), transcript variant 15, mRNA.	316	Important for oligomerization.				generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			CTGGGGTGTCGATAGGAGTCC	0.547000														78			36		0	0	0.002222	0	0
SERPINB3	6317	broad.mit.edu	37	18	61325864	61325864	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr18:61325864C>T	uc002lji.3	-	5	496	c.352_splice	c.e5-1	p.E118_splice	SERPINB3_uc002ljg.3_Splice_Site_p.E118_splice|SERPINB3_uc010dqa.3_Splice_Site_p.E118_splice|SERPINB3_uc010dqb.3_3'UTR	NM_006919	NP_008850	P29508	SPB3_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 3 (SERPINB3), mRNA.	118					regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						TCTAAATATTCCTTTGAGATA	0.318000														42			19		0	0	0.008871	0	0
TULP4	56995	broad.mit.edu	37	6	158910722	158910722	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:158910722C>T	uc003qrf.3	+	8	2946	c.1589C>T	c.(1588-1590)tCt>tTt	p.S530F	TULP4_uc003qrg.3_Missense_Mutation_p.S530F	NM_020245	NP_064630	Q9NRJ4	TULP4_HUMAN	Homo sapiens tubby like protein 4 (TULP4), transcript variant 1, mRNA.	530					intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		GCCAAGAAATCTCCCAAAATC	0.463000														28			21		0	0	0.002780	0	0
OR4D10	390197	broad.mit.edu	37	11	59245628	59245628	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:59245628C>T	uc001nnz.1	+	0	726	c.726C>T	c.(724-726)tcC>tcT	p.S242S		NM_001004705	NP_001004705	Q8NGI6	OR4DA_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 10 (OR4D10), mRNA.	242					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CCTGCACCTCCCACATCACTG	0.537000														84			27		0	0	0.008361	0	0
NOS1	4842	broad.mit.edu	37	12	117685251	117685251	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:117685251C>T	uc001twn.2	-	18	3538	c.2827G>A	c.(2827-2829)Gaa>Aaa	p.E943K	NOS1_uc021ren.1_Missense_Mutation_p.E573K|NOS1_uc021reo.1_Missense_Mutation_p.E573K|NOS1_uc001twm.2_Missense_Mutation_p.E909K	NM_001204218	NP_001191147	P29475	NOS1_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA.	909					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)	CCCAGTTCTTCCAGGAGGGTG	0.552000														46			23		0	0	0.002780	0	0
ATP8B4	79895	broad.mit.edu	37	15	50264849	50264849	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:50264849G>A	uc001zxu.3	-	12	1315	c.1173C>T	c.(1171-1173)tcC>tcT	p.S391S	ATP8B4_uc010ber.3_Silent_p.S264S|ATP8B4_uc010ufd.2_Silent_p.S264S|ATP8B4_uc010ufe.2_Non-coding_Transcript	NM_024837	NP_079113	Q8TF62	AT8B4_HUMAN	Homo sapiens ATPase, class I, type 8B, member 4 (ATP8B4), mRNA.	391					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(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		CCGTTTTGTCGGAGAAAATGT	0.433000														30			13		0	0	0.004007	0	0
ZNF234	10780	broad.mit.edu	37	19	44662093	44662093	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:44662093C>T	uc002oym.3	+	5	2231	c.1924C>T	c.(1924-1926)Cat>Tat	p.H642Y	ZNF234_uc002oyl.4_Missense_Mutation_p.H642Y	NM_006630	NP_006621	Q14588	ZN234_HUMAN	Homo sapiens zinc finger protein 234 (ZNF234), transcript variant 1, mRNA.	642					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)	23		Prostate(69;0.0435)				ATTACAGTATCATAGGCGAGT	0.413000														53			28		0	0	0.005443	0	0
ZNF682	91120	broad.mit.edu	37	19	20118051	20118051	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:20118051G>A	uc002noq.3	-	3	383	c.260C>T	c.(259-261)cCa>cTa	p.P87L	ZNF682_uc002noo.3_Missense_Mutation_p.P55L|ZNF682_uc002nop.3_Missense_Mutation_p.P55L|ZNF682_uc010eck.3_Missense_Mutation_p.P11L	NM_033196	NP_001070817	O95780	ZN682_HUMAN	Homo sapiens zinc finger protein 682 (ZNF682), transcript variant 1, mRNA.	87					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						GCACTGTTCTGGCAAAAGGTC	0.353000														33			8		0	0	0.004482	0	0
UGT2B10	7365	broad.mit.edu	37	4	69693177	69693177	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:69693177G>A	uc003hee.3	+	4	1243	c.1218G>A	c.(1216-1218)aaG>aaA	p.K406K	UGT2B10_uc011cam.2_Silent_p.K322K	NM_001075	NP_001066	P36537	UDB10_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B10 (UGT2B10), transcript variant 1, mRNA.	406					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						CTCACATGAAGGCCAAGGGAG	0.448000														156			25		0	0	0.003954	0	0
TLE3	7090	broad.mit.edu	37	15	70342442	70342442	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:70342442G>A	uc002asl.2	-	18	2614	c.2313C>T	c.(2311-2313)atC>atT	p.I771I	TLE3_uc002ask.2_Silent_p.I698I|TLE3_uc010ukd.1_Silent_p.I761I|TLE3_uc010bil.1_Silent_p.I768I|TLE3_uc002asn.2_Silent_p.I759I|TLE3_uc002asm.2_Silent_p.I771I|TLE3_uc002asp.2_Silent_p.I763I|TLE3_uc002aso.2_Silent_p.I766I	NM_001105192	NP_001098662	Q04726	TLE3_HUMAN	Homo sapiens transducin-like enhancer of split 3 (E(sp1) homolog, Drosophila) (TLE3), transcript variant 2, mRNA.	771					Wnt receptor signaling pathway|organ morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						TTGTTTAGTAGATGACCTCAT	0.527000														57			34		0	0	0.003755	0	0
abParts	0	broad.mit.edu	37	14	107099196	107099196	+	RNA	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:107099196G>A	uc021ser.1	-	109		c.4878C>T								Parts of antibodies, mostly variable regions.																		CAGAGACAGTGAATTCTGGGC	0.488000														14			10		0	0	0.000978	0	0
MAPK11	5600	broad.mit.edu	37	22	50706341	50706341	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr22:50706341C>T	uc003bkr.3	-	1	212	c.154G>A	c.(154-156)Gtg>Atg	p.V52M	MAPK11_uc010hay.1_Non-coding_Transcript|MAPK11_uc011art.1_Missense_Mutation_p.V52M|MAPK11_uc010haz.2_5'UTR	NM_002751	NP_002742	Q15759	MK11_HUMAN	Homo sapiens mitogen-activated protein kinase 11 (MAPK11), mRNA.	52	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|innate immune response|mRNA metabolic process|muscle cell differentiation|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation|regulation of sequence-specific DNA binding 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|nucleoplasm	ATP binding|MAP kinase activity|protein binding			breast(1)|central_nervous_system(1)|lung(4)	6		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		AGCTTCTTCACCGCCACCTTC	0.711000														9			3		0	0	0.000602	0	0
KCNH7	90134	broad.mit.edu	37	2	163250982	163250982	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:163250982C>T	uc002uch.2	-	11	2856	c.2627G>A	c.(2626-2628)cGa>cAa	p.R876Q		NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 7 (KCNH7), transcript variant 1, mRNA.	876					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	GGATTGTGATCGTAGGAGATC	0.323000														48			15		0	0	0.004007	0	0
SNRPN	6638	broad.mit.edu	37	15	25442661	25442661	+	Splice_Site	SNP	G	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:25442661G>T	uc001yzk.1	+	1		c.86_splice	c.e1+1		SNRPN_uc010ayo.1_Splice_Site|SNORD115-16_uc001yzm.1_5'Flank			P63162	RSMN_HUMAN	Homo sapiens clone Rt-13I SNURF-SNRPN mRNA, downstream untranslated exons, alternatively spliced.						RNA splicing	small nuclear ribonucleoprotein complex|spliceosomal complex	RNA binding|identical protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(2)	24		all_cancers(20;9.33e-22)|Breast(32;0.000625)		all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125)		CTGAGCTGTGGTGAGCACATC	0.567000									Prader-Willi syndrome					51			8		0.000157383	0.000189033	0.003080	1	0
ENPP3	5169	broad.mit.edu	37	6	132045206	132045206	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:132045206G>T	uc003qcu.4	+	19	2120	c.1773G>T	c.(1771-1773)caG>caT	p.Q591H	ENPP3_uc003qcv.3_Missense_Mutation_p.Q591H|ENPP3_uc010kfq.3_Non-coding_Transcript	NM_005021	NP_005012	O14638	ENPP3_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 3 (ENPP3), mRNA.	591					immune response|nucleoside triphosphate catabolic process|phosphate metabolic process	extracellular region|integral to plasma membrane|perinuclear region of cytoplasm	metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity			NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		AAGTGAATCAGATGCTAAATC	0.373000														21			12		1.5842e-08	1.91402e-08	0.001855	1	0
PC	5091	broad.mit.edu	37	11	66631373	66631373	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:66631373G>A	uc001ojn.1	-	9	1289	c.1240C>T	c.(1240-1242)Caa>Taa	p.Q414*	PC_uc001ojo.1_Nonsense_Mutation_p.Q414*|PC_uc001ojp.1_Nonsense_Mutation_p.Q414*	NM_022172	NP_071504	P11498	PYC_HUMAN	Homo sapiens pyruvate carboxylase (PC), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	414	Biotin carboxylation.				gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	ACGGCTCCTTGGAAGGCGGAA	0.637000														94			40		0	0	0.003610	0	0
DNAH10	196385	broad.mit.edu	37	12	124401023	124401023	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:124401023C>T	uc001uft.4	+	61	10413	c.10388C>T	c.(10387-10389)cCt>cTt	p.P3463L		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	3463	AAA 5 (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)		TTTAATGACCCTGACTTCCTC	0.488000														85			37		0	0	0.002522	0	0
DLG5	9231	broad.mit.edu	37	10	79566545	79566545	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:79566545G>A	uc001jzk.3	-	25	5008	c.4938C>T	c.(4936-4938)atC>atT	p.I1646I	DLG5_uc001jzi.3_Silent_p.I401I|DLG5_uc001jzj.3_Silent_p.I1061I|DLG5_uc009xru.1_Non-coding_Transcript	NM_004747	NP_004738	Q8TDM6	DLG5_HUMAN	Homo sapiens discs, large homolog 5 (Drosophila) (DLG5), mRNA.	1646	SH3.				cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			GCCCGCGCTGGATCTTCTGGG	0.617000														34			22		0	0	0.002299	0	0
SIM1	6492	broad.mit.edu	37	6	100895251	100895251	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:100895251G>A	uc003pqj.4	-	7	1358	c.891C>T	c.(889-891)ttC>ttT	p.F297F	SIM1_uc021zdg.1_Silent_p.F297F|SIM1_uc010kcu.3_Silent_p.F297F	NM_005068	NP_005059	P81133	SIM1_HUMAN	Homo sapiens single-minded homolog 1 (Drosophila) (SIM1), mRNA.	297	PAC.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		GTTTCGCCAGGAACCTGTAGT	0.592000														31			8		0	0	0.006214	0	0
TNNT2	7139	broad.mit.edu	37	1	201331124	201331124	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:201331124C>T	uc001gwf.3	-	12	696	c.627G>A	c.(625-627)caG>caA	p.Q209Q	TNNT2_uc009wzn.3_5'Flank|TNNT2_uc009wzo.3_5'Flank|TNNT2_uc009wzp.3_Non-coding_Transcript|TNNT2_uc021phc.1_Silent_p.Q202Q|TNNT2_uc001gwg.3_Silent_p.Q199Q|TNNT2_uc001gwh.3_Silent_p.Q190Q|TNNT2_uc001gwi.3_Silent_p.Q169Q|TNNT2_uc009wzr.3_Silent_p.Q140Q	NM_000364	NP_000355	P45379	TNNT2_HUMAN	Homo sapiens troponin T type 2 (cardiac) (TNNT2), transcript variant 1, mRNA.	212					ATP catabolic process|muscle filament sliding|negative regulation of ATPase activity|positive regulation of ATPase activity|regulation of heart contraction|response to calcium ion|ventricular cardiac muscle tissue morphogenesis	cytosol|troponin complex	actin binding|tropomyosin binding|troponin C binding|troponin I binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(9)	20						CCCGCTCAGTCTGCCTCTTCC	0.572000											OREG0014076	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		61			34		0	0	0.005524	0	0
HS6ST3	266722	broad.mit.edu	37	13	97484744	97484744	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr13:97484744G>A	uc001vmw.3	+	2	732	c.708_splice	c.e2-1	p.R236_splice		NM_153456	NP_703157	Q8IZP7	H6ST3_HUMAN	Homo sapiens heparan sulfate 6-O-sulfotransferase 3 (HS6ST3), mRNA.	236						integral to membrane	sulfotransferase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20	all_neural(89;0.0878)|Medulloblastoma(90;0.163)					TTTCTTCTAGGAATTTCTATT	0.403000														26			7		0	0	0.003080	0	0
PDIA5	10954	broad.mit.edu	37	3	122849384	122849384	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:122849384C>T	uc003egc.2	+	10	987	c.831C>T	c.(829-831)tcC>tcT	p.S277S	PDIA5_uc003egd.2_Intron	NM_006810	NP_006801	Q14554	PDIA5_HUMAN	Homo sapiens protein disulfide isomerase family A, member 5 (PDIA5), transcript variant 1, mRNA.	277	Thioredoxin 2.				cell redox homeostasis|glycerol ether metabolic process|protein folding|response to stress	endoplasmic reticulum lumen	electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	21				GBM - Glioblastoma multiforme(114;0.0427)		AGGGCGGCTCCGTTTATCACC	0.587000														47			23		0	0	0.002299	0	0
CSF2RB	1439	broad.mit.edu	37	22	37328826	37328826	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr22:37328826C>T	uc003aqa.4	+	8	1249	c.1032C>T	c.(1030-1032)tcC>tcT	p.S344S	CSF2RB_uc003aqc.4_Silent_p.S350S	NM_000395	NP_000386	P32927	IL3RB_HUMAN	Homo sapiens colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage) (CSF2RB), mRNA.	344	Fibronectin type-III 2.				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)	CCCCTCCATCCCTCAACGTGA	0.527000														22			10		0	0	0.008291	0	0
TCTE1	202500	broad.mit.edu	37	6	44253974	44253974	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:44253974G>A	uc003oxi.2	-	2	729	c.573C>T	c.(571-573)gtC>gtT	p.V191V	TMEM151B_uc003oxg.3_Intron|TMEM151B_uc003oxf.2_Intron	NM_182539	NP_872345	Q5JU00	TCTE1_HUMAN	Homo sapiens t-complex-associated-testis-expressed 1 (TCTE1), mRNA.	191										breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GATCGACGTGGACCCTGCGCA	0.662000														35			11		0	0	0.001855	0	0
C9orf135	138255	broad.mit.edu	37	9	72520940	72520940	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:72520940G>A	uc004ahl.3	+	5	643	c.578G>A	c.(577-579)gGt>gAt	p.G193D	C9orf135_uc011lrw.2_3'UTR|C9orf135_uc010moq.3_Missense_Mutation_p.G85D|C9orf135_uc011lrx.2_Non-coding_Transcript|C9orf135_uc010mop.3_3'UTR	NM_001010940	NP_001010940	Q5VTT2	CI135_HUMAN	Homo sapiens chromosome 9 open reading frame 135 (C9orf135), mRNA.	193						integral to membrane				endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7						GATCTAAATGGTTCTAAAAGA	0.378000														57			24		0	0	0.005443	0	0
SRD5A2	6716	broad.mit.edu	37	2	31754504	31754504	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:31754504C>T	uc002rnw.1	-	4	639	c.568G>A	c.(568-570)Gga>Aga	p.G190R		NM_000348	NP_000339	P31213	S5A2_HUMAN	Homo sapiens steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2) (SRD5A2), mRNA.	191					androgen biosynthetic process|cell differentiation|cell-cell signaling|male gonad development	endoplasmic reticulum membrane|integral to membrane|microsome	3-oxo-5-alpha-steroid 4-dehydrogenase activity|sterol 5-alpha reductase activity					Acute lymphoblastic leukemia(172;0.155)				Azelaic Acid(DB00548)|Dutasteride(DB01126)	AAATTGGCTCCAGAAACATAC	0.448000														17			4		0	0	0.000248	0	0
CEACAM16	388551	broad.mit.edu	37	19	45207391	45207391	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:45207391C>T	uc010xxd.2	+	3	692	c.486C>T	c.(484-486)gtC>gtT	p.V162V		NM_001039213	NP_001034302	A7LI12	A7LI12_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 16 (CEACAM16), mRNA.	162										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)				CCGCCGAGGTCCGCTGGTTCT	0.706000														41			10		0	0	0.008291	0	0
SYNE1	23345	broad.mit.edu	37	6	152443788	152443788	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:152443788G>A	uc021zhb.1	-	143	26400	c.26177C>T	c.(26176-26178)tCc>tTc	p.S8726F	SYNE1_uc003qos.4_Missense_Mutation_p.S3250F|SYNE1_uc003qot.4_Missense_Mutation_p.S8678F|SYNE1_uc003qou.4_Missense_Mutation_p.S8726F|SYNE1_uc011eez.2_Silent_p.F908F|SYNE1_uc003qoq.4_Silent_p.F908F|SYNE1_uc003qor.4_Silent_p.F1629F	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	8726	Ser-rich.				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)		AGAAAGGGAGGAATCGGAGCC	0.567000										HNSCC(10;0.0054)				65			21		0	0	0.002780	0	0
PLEKHG2	64857	broad.mit.edu	37	19	39914713	39914713	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:39914713C>T	uc010xuz.2	+	18	3265	c.2940C>T	c.(2938-2940)atC>atT	p.I980I	PLEKHG2_uc010xuy.2_Silent_p.I921I|PLEKHG2_uc002olj.3_Intron|PLEKHG2_uc010xva.2_Silent_p.I758I	NM_022835	NP_073746	Q9H7P9	PKHG2_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 2 (PLEKHG2), mRNA.	980					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			ACCCAGAAATCCAAGTTCCAG	0.567000														100			43		0	0	0.003610	0	0
PRKAA2	5563	broad.mit.edu	37	1	57161832	57161832	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:57161832G>A	uc001cyk.4	+	6	859	c.788_splice	c.e6+1	p.R263_splice		NM_006252	NP_006243	P54646	AAPK2_HUMAN	Homo sapiens protein kinase, AMP-activated, alpha 2 catalytic subunit (PRKAA2), mRNA.	263	Protein kinase.				carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm	ATP binding|metal ion binding			breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23						AAAGACATAAGGTGATTTTTC	0.383000														108			34		0	0	0.002836	0	0
MFAP3	4238	broad.mit.edu	37	5	153432973	153432973	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:153432973C>T	uc010jib.2	+	2	1008	c.789C>T	c.(787-789)gaC>gaT	p.D263D	MFAP3_uc011ddb.1_Silent_p.D117D|MFAP3_uc003lvf.2_Silent_p.D263D|MFAP3_uc021ygf.1_Silent_p.D117D	NM_005927	NP_001128509	P55082	MFAP3_HUMAN	Homo sapiens microfibrillar-associated protein 3 (MFAP3), transcript variant 1, mRNA.	263						integral to membrane|plasma membrane				breast(1)|kidney(2)|large_intestine(1)|lung(2)|pancreas(1)	7	Renal(175;0.00488)	Lung NSC(249;0.00145)|all_lung(500;0.00226)|all_neural(177;0.122)|Breast(839;0.14)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)	OV - Ovarian serous cystadenocarcinoma(192;9.69e-06)|GBM - Glioblastoma multiforme(465;0.0201)		GAGTGGACGACCCTGATGACC	0.468000														74			28		0	0	0.006320	0	0
C8B	732	broad.mit.edu	37	1	57411605	57411606	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:57411605_57411606CC>TT	uc001cyp.3	-	6	1060_1061	c.993_994GG>AA	c.(991-996)ggggaa>ggAAaa	p.E332K	C8B_uc010oon.2_Missense_Mutation_p.E270K|C8B_uc010ooo.2_Missense_Mutation_p.E280K	NM_000066	NP_000057	P07358	CO8B_HUMAN	Homo sapiens complement component 8, beta polypeptide (C8B), mRNA.	332	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				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						TCTCTGTATTCCCCGTAGCTGT	0.490000														39			17		0	0	0.004672	0	0
ZNF790	388536	broad.mit.edu	37	19	37310620	37310620	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:37310620G>A	uc021utk.1	-	4	1055	c.626C>T	c.(625-627)cCt>cTt	p.P209L	LOC284408_uc021utj.1_Intron|LOC284408_uc002oev.2_Intron|ZNF790_uc002oew.3_Missense_Mutation_p.P209L|ZNF790_uc021utl.1_Missense_Mutation_p.P209L|ZNF790_uc021utm.1_Missense_Mutation_p.P209L	NM_001242802	NP_001229731	Q6PG37	ZN790_HUMAN	Homo sapiens zinc finger protein 790 (ZNF790), transcript variant 4, mRNA.	209					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	32	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			TTCTGAATCAGGAAGAAAGGT	0.348000														28			7		0	0	0.001984	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140188692	140188692	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:140188692G>A	uc003lhi.2	+	0	2021	c.1920G>A	c.(1918-1920)acG>acA	p.T640T	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Silent_p.T640T|PCDHAC2_uc011daa.2_Silent_p.T640T	NM_018907	NP_061730	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 4 (PCDHA4), transcript variant 1, mRNA.	651	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)			TGGACGAAACGGACGCTCCGC	0.672000														47			20		0	0	0.001523	0	0
TLL2	7093	broad.mit.edu	37	10	98188497	98188497	+	Silent	SNP	T	G	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:98188497T>G	uc001kml.2	-	4	770	c.529A>C	c.(529-531)Agg>Cgg	p.R177R	TLL2_uc009xvf.2_Silent_p.R125R	NM_012465	NP_036597	Q9Y6L7	TLL2_HUMAN	Homo sapiens tolloid-like 2 (TLL2), mRNA.	177	Metalloprotease (By similarity).				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		AAAATGGCCCTCTGGCTCCCT	0.433000														28			11		0	0	0.000978	0	0
DMGDH	29958	broad.mit.edu	37	5	78338173	78338173	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:78338173G>A	uc003kfs.3	-	6	1132	c.1126C>T	c.(1126-1128)Cct>Tct	p.P376S	DMGDH_uc011cte.1_Missense_Mutation_p.P226S|DMGDH_uc011ctf.1_Missense_Mutation_p.P175S|DMGDH_uc011ctg.1_Intron	NM_013391	NP_037523	Q9UI17	M2GD_HUMAN	Homo sapiens dimethylglycine dehydrogenase (DMGDH), nuclear gene encoding mitochondrial protein, mRNA.	376					choline metabolic process|glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		AGAATGTCAGGAGAATACGTG	0.438000														34			17		0	0	0.004007	0	0
SYCP2L	221711	broad.mit.edu	37	6	10927577	10927578	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:10927577_10927578GG>AA	uc003mzo.3	+	16	1713_1714	c.1417_1418GG>AA	c.(1417-1419)ggg>AAg	p.G473K	SYCP2L_uc011din.1_Intron|SYCP2L_uc010jow.3_Missense_Mutation_p.G93K	NM_001040274	NP_001035364	Q5T4T6	SYC2L_HUMAN	Homo sapiens synaptonemal complex protein 2-like (SYCP2L), mRNA.	473						nucleus				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)			ACCTGTtattggggaacctgcc	0.436000														12			6		0	0	0.004672	0	0
MAGEC1	9947	broad.mit.edu	37	X	140995424	140995424	+	Missense_Mutation	SNP	G	A	A	rs150635296		TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chrX:140995424G>A	uc004fbt.3	+	3	2558	c.2234G>A	c.(2233-2235)aGt>aAt	p.S745N	MAGEC1_uc010nsl.2_Intron|MAGEC1_uc022cfi.1_Missense_Mutation_p.S404N	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	745							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)					AGTCCTGTGAGTATCTGCTCC	0.567000										HNSCC(15;0.026)				31			56		0	0	0.003610	0	0
LRRC37A3	374819	broad.mit.edu	37	17	62893304	62893304	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:62893304G>A	uc002jey.2	-	2	688	c.72C>T	c.(70-72)ctC>ctT	p.L24L	LRRC37A3_uc010wqg.1_Intron|LRRC37A3_uc010wqf.1_Intron	NM_199340	NP_955372	O60309	L37A3_HUMAN	Homo sapiens leucine rich repeat containing 37, member A3 (LRRC37A3), mRNA.	24						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						GCCACATAAGGAGGGGCCATG	0.632000														164			18		0	0	0.001882	0	0
CYP4B1	1580	broad.mit.edu	37	1	47282750	47282750	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:47282750C>T	uc001cqn.4	+	8	1188	c.1104C>T	c.(1102-1104)acC>acT	p.T368T	CYP4B1_uc001cqm.4_Silent_p.T367T|CYP4B1_uc009vym.3_Silent_p.T353T|CYP4B1_uc010omk.2_Silent_p.T204T	NM_001099772	NP_001093242	P13584	CP4B1_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily B, polypeptide 1 (CYP4B1), transcript variant 1, mRNA.	367					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)					CTTATCTGACCATGTGCATCA	0.547000														93			33		0	0	0.004289	0	0
STEAP3	55240	broad.mit.edu	37	2	120003204	120003204	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:120003204C>T	uc002tlp.3	+	2	289	c.132C>T	c.(130-132)gcC>gcT	p.A44A	STEAP3_uc002tlq.3_Silent_p.A54A|STEAP3_uc002tlr.3_Silent_p.A44A|STEAP3_uc010fle.3_Silent_p.A44A	NM_018234	NP_060704	Q658P3	STEA3_HUMAN	Homo sapiens STEAP family member 3, metalloreductase (STEAP3), transcript variant 2, mRNA.	44					apoptosis|cell cycle|cellular iron ion homeostasis|protein secretion|transferrin transport|transmembrane transport	endosome membrane|integral to membrane|multivesicular body	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	17						GCTCCCTGGCCACACGCCTGG	0.642000														14			6		0	0	0.001984	0	0
CHAF1A	10036	broad.mit.edu	37	19	4428803	4428803	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:4428803C>T	uc002mal.3	+	7	1620	c.1520C>T	c.(1519-1521)tCc>tTc	p.S507F		NM_005483	NP_005474	Q13111	CAF1A_HUMAN	Homo sapiens chromatin assembly factor 1, subunit A (p150) (CHAF1A), mRNA.	507					DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|cell cycle|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|WINAC complex	chromatin binding|chromo shadow domain binding|unfolded protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCGAGTTCTCCTTCTTGAAA	0.597000								Chromatin Structure						45			21		0	0	0.001523	0	0
CTXN3	613212	broad.mit.edu	37	5	126993383	126993383	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:126993383G>A	uc003kul.4	+	2	744	c.170G>A	c.(169-171)cGa>cAa	p.R57Q	CTXN3_uc003kum.4_Missense_Mutation_p.R57Q|CTXN3_uc021yde.1_Missense_Mutation_p.R57Q	NM_001048252	NP_001120857	Q4LDR2	CTXN3_HUMAN	Homo sapiens cortexin 3 (CTXN3), transcript variant 1, mRNA.	57						integral to membrane				endometrium(1)|large_intestine(2)|lung(1)	4		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0128)|COAD - Colon adenocarcinoma(49;0.0234)|OV - Ovarian serous cystadenocarcinoma(64;0.038)		GATCCATATCGAAGCATGCCA	0.488000														58			27		0	0	0.007291	0	0
OR1G1	8390	broad.mit.edu	37	17	3030088	3030088	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:3030088C>T	uc002fvc.1	-	0	758	c.758G>A	c.(757-759)gGg>gAg	p.G253E		NM_003555	NP_003546	P47890	OR1G1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily G, member 1 (OR1G1), mRNA.	253					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(3)|skin(3)	11						AAAAGAAGTCCCAAAGAAGAG	0.488000														14			12		0	0	0.000978	0	0
NPTX2	4885	broad.mit.edu	37	7	98256592	98256593	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:98256592_98256593GG>AA	uc003upl.2	+	3	1181_1182	c.1004_1005GG>AA	c.(1003-1005)ggg>gAA	p.G335E		NM_002523	NP_002514	P47972	NPTX2_HUMAN	Homo sapiens neuronal pentraxin II (NPTX2), mRNA.	335	Pentaxin.				synaptic transmission	extracellular region	metal ion binding|sugar binding			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		STAD - Stomach adenocarcinoma(171;0.215)			CTGGGCACTGGGGAGAACCTGG	0.644000														24			20		0	0	0.004672	0	0
ZNF445	353274	broad.mit.edu	37	3	44488591	44488591	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:44488591G>A	uc003cnf.2	-	7	2920	c.2572C>T	c.(2572-2574)Cat>Tat	p.H858Y	ZNF445_uc011azv.1_Missense_Mutation_p.H846Y|ZNF445_uc011azw.1_Missense_Mutation_p.H858Y	NM_181489	NP_852466	P59923	ZN445_HUMAN	Homo sapiens zinc finger protein 445 (ZNF445), mRNA.	858					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3)	31				KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)		ATTCCCTTATGATCTAAAAGG	0.393000														104			50		0	0	0.003610	0	0
PTPRD	5789	broad.mit.edu	37	9	8484171	8484171	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:8484171C>T	uc003zkk.3	-	29	4104	c.3361G>A	c.(3361-3363)Gat>Aat	p.D1121N	PTPRD_uc003zkp.3_Missense_Mutation_p.D710N|PTPRD_uc003zkq.3_Missense_Mutation_p.D710N|PTPRD_uc003zkr.3_Missense_Mutation_p.D705N|PTPRD_uc003zks.3_Missense_Mutation_p.D700N|PTPRD_uc022bdj.1_Missense_Mutation_p.D707N	NM_002839	NP_002830	P23468	PTPRD_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA.	1121					transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		ATCATGCCATCCAAGTTGGTC	0.458000										TSP Lung(15;0.13)				67			39		0	0	0.007835	0	0
LOC286238	286238	broad.mit.edu	37	9	91262548	91262549	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:91262548_91262549CC>TT	uc010mql.1	-	1	227_228	c.94_95GG>AA	c.(94-96)gga>AAa	p.G32K		NM_001100111	NP_001093581			Homo sapiens uncharacterized LOC286238 (LOC286238), mRNA.																		CACTGCTATTCCTTGCTGTCTT	0.421000														38			32		0	0	0.004672	0	0
CACNA1I	8911	broad.mit.edu	37	22	40056392	40056392	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr22:40056392C>T	uc003ayc.3	+	14	2648	c.2648C>T	c.(2647-2649)tCc>tTc	p.S883F	CACNA1I_uc003ayd.3_Missense_Mutation_p.S848F|CACNA1I_uc003aye.3_Missense_Mutation_p.S798F|CACNA1I_uc003ayf.3_Missense_Mutation_p.S763F	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1I subunit (CACNA1I), transcript variant 1, mRNA.	883					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	CAGAGCTCATCCAACATAGAA	0.577000														24			8		0	0	0.004482	0	0
SLC1A2	6506	broad.mit.edu	37	11	35336589	35336589	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:35336589G>A	uc001mwd.3	-	2	883	c.291C>T	c.(289-291)atC>atT	p.I97I	SLC1A2_uc021qfx.1_Silent_p.I88I|SLC1A2_uc001mwe.3_Silent_p.I88I|SLC1A2_uc010rev.1_Silent_p.I97I	NM_004171	NP_001239581	P43004	EAA2_HUMAN	Homo sapiens solute carrier family 1 (glial high affinity glutamate transporter), member 2 (SLC1A2), transcript variant 1, mRNA.	97					D-aspartate import|L-glutamate import|synaptic transmission	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|urinary_tract(1)	24	all_lung(20;0.211)|all_epithelial(35;0.234)	all_hematologic(20;0.109)	STAD - Stomach adenocarcinoma(6;0.00731)		L-Glutamic Acid(DB00142)	AGCTGGAGATGATTAGAGGGA	0.443000														79			46		0	0	0.003610	0	0
FGFR1	2260	broad.mit.edu	37	8	38282038	38282038	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:38282038G>A	uc022aua.1	-	6	1867	c.925C>T	c.(925-927)Cag>Tag	p.Q309*	FGFR1_uc011lbu.2_Nonsense_Mutation_p.Q340*|FGFR1_uc011lbv.2_Nonsense_Mutation_p.Q307*|FGFR1_uc011lbw.2_Nonsense_Mutation_p.Q220*|FGFR1_uc003xlp.3_Nonsense_Mutation_p.Q309*|FGFR1_uc022aub.1_Nonsense_Mutation_p.Q307*|FGFR1_uc022auc.1_Nonsense_Mutation_p.Q220*|FGFR1_uc022aud.1_Nonsense_Mutation_p.Q218*|FGFR1_uc010lwk.3_Nonsense_Mutation_p.Q301*|FGFR1_uc011lbr.2_Non-coding_Transcript|FGFR1_uc011lbs.2_Nonsense_Mutation_p.Q149*|FGFR1_uc011lbt.1_Nonsense_Mutation_p.Q218*|FGFR1_uc011lbx.1_Nonsense_Mutation_p.Q220*|FGFR1_uc003xlv.3_Nonsense_Mutation_p.Q220*|FGFR1_uc003xlu.3_Nonsense_Mutation_p.Q218*	NM_023110	NP_075598	P11362	FGFR1_HUMAN	Homo sapiens fibroblast growth factor receptor 1 (FGFR1), transcript variant 1, mRNA.	309	Ig-like C2-type 3.				MAPKKK cascade|axon guidance|cell growth|insulin receptor signaling pathway|positive regulation of cell proliferation|skeletal system development	extracellular region|integral to plasma membrane|membrane fraction	ATP binding|fibroblast growth factor receptor activity|heparin binding|protein homodimerization activity		FGFR1/ZNF703(2)	breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	50	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		Palifermin(DB00039)	TTCAAGATCTGGACATAAGGC	0.552000		1	T	"""BCR, FOP, ZNF198, CEP1"""	"""MPD, NHL"""		"""Pfeiffer syndrome, Kallman syndrome"""							53			27		0	0	0.006320	0	0
CSMD1	64478	broad.mit.edu	37	8	3224591	3224591	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:3224591G>A	uc022aqr.1	-	19	3468	c.3078C>T	c.(3076-3078)ttC>ttT	p.F1026F	CSMD1_uc011kwj.2_Silent_p.F419F|CSMD1_uc003wqe.3_Silent_p.F183F	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	1027	CUB 6.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		ACGAAATTGAGAAGTCTGATA	0.488000														20			11		0	0	0.001368	0	0
KLC4	89953	broad.mit.edu	37	6	43030843	43030843	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:43030843C>T	uc003otw.1	+	2	820	c.501C>T	c.(499-501)ttC>ttT	p.F167F	KLC4_uc003otr.1_Non-coding_Transcript|KLC4_uc003otu.3_Silent_p.F149F|KLC4_uc003otv.1_Silent_p.F149F|KLC4_uc011dvd.1_Intron|KLC4_uc003otx.1_Silent_p.F149F|KLC4_uc003oty.1_Silent_p.F149F|KLC4_uc003otz.1_Silent_p.F149F	NM_201523	NP_958930	Q9NSK0	KLC4_HUMAN	Homo sapiens kinesin light chain 4 (KLC4), transcript variant 3, mRNA.	149						cytoplasm|kinesin complex|microtubule	microtubule motor activity|protein binding			endometrium(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(4)	23			all cancers(41;0.00169)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0376)|KIRC - Kidney renal clear cell carcinoma(2;0.0453)			ACCTGGAGTTCCTGGGGCAGC	0.622000														29			9		0	0	0.004482	0	0
EFR3A	23167	broad.mit.edu	37	8	133008666	133008666	+	Silent	SNP	T	G	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:133008666T>G	uc003yte.3	+	18	2283	c.2079T>G	c.(2077-2079)ctT>ctG	p.L693L		NM_015137	NP_055952	Q14156	EFR3A_HUMAN	Homo sapiens EFR3 homolog A (S. cerevisiae) (EFR3A), mRNA.	693						plasma membrane	binding	p.R692*(1)		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)			AAGATCGACTTTCTAGAAGAA	0.308000														12			10		0	0	0.000978	0	0
GP2	2813	broad.mit.edu	37	16	20335546	20335546	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:20335546C>T	uc002dgv.3	-	2	210	c.127G>A	c.(127-129)Ggg>Agg	p.G43R	GP2_uc002dgw.3_Missense_Mutation_p.G43R|GP2_uc002dgx.3_Intron|GP2_uc002dgy.3_Intron	NM_001007240	NP_001007241	P55259	GP2_HUMAN	Homo sapiens glycoprotein 2 (zymogen granule membrane) (GP2), transcript variant 1, mRNA.	43						anchored to membrane|extracellular region|plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						AGGTCCAGCCCATACGAACTG	0.532000														21			14		0	0	0.002450	0	0
CNR1	1268	broad.mit.edu	37	6	88854124	88854124	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:88854124G>A	uc010kbz.3	-	1	1000	c.870C>T	c.(868-870)atC>atT	p.I290I	CNR1_uc011dzr.2_Silent_p.I290I|CNR1_uc011dzs.2_Silent_p.I290I|CNR1_uc003pmq.4_Silent_p.I290I|CNR1_uc011dzt.2_Silent_p.I290I|CNR1_uc010kca.3_Silent_p.I257I|CNR1_uc021zco.1_Silent_p.I290I	NM_016083	NP_057167	P21554	CNR1_HUMAN	Homo sapiens cannabinoid receptor 1 (brain) (CNR1), transcript variant 1, mRNA.	290					G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	cannabinoid receptor activity|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1)	37		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.15)	Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)	ACGCATACACGATGAACAGAA	0.507000														32			9		0	0	0.006214	0	0
GPR37	2861	broad.mit.edu	37	7	124387061	124387061	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:124387061G>A	uc003vli.3	-	1	2011	c.1360C>T	c.(1360-1362)Ccc>Tcc	p.P454S		NM_005302	NP_005293	O15354	GPR37_HUMAN	Homo sapiens G protein-coupled receptor 37 (endothelin receptor type B-like) (GPR37), mRNA.	454						endoplasmic reticulum membrane|integral to plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						AAAAGCGTGGGCAAACAAAAG	0.468000														38			19		0	0	0.007413	0	0
SEZ6L	23544	broad.mit.edu	37	22	26688398	26688398	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr22:26688398C>T	uc003acb.3	+	1	317	c.121C>T	c.(121-123)Cct>Tct	p.P41S	SEZ6L_uc003acd.3_Missense_Mutation_p.P41S|SEZ6L_uc011akd.2_Missense_Mutation_p.P41S|SEZ6L_uc003ace.3_Missense_Mutation_p.P41S|SEZ6L_uc011akc.2_Missense_Mutation_p.P41S|SEZ6L_uc003acc.3_Missense_Mutation_p.P41S|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.	41						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						AGATGCTAGCCCTTTGGGTCC	0.567000														11			4		0	0	0.000248	0	0
SPHKAP	80309	broad.mit.edu	37	2	228883935	228883935	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:228883935C>A	uc002vpq.2	-	6	1682	c.1635G>T	c.(1633-1635)aaG>aaT	p.K545N	SPHKAP_uc002vpp.2_Missense_Mutation_p.K545N|SPHKAP_uc010zlx.1_Missense_Mutation_p.K545N	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	545						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TGGAAGGTTCCTTGAGTCCTT	0.537000														54			21		3.83957e-06	4.62529e-06	0.002780	1	0
PDE1A	5136	broad.mit.edu	37	2	183104927	183104927	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:183104927C>T	uc002uos.3	-	3	392	c.308G>A	c.(307-309)cGg>cAg	p.R103Q	PDE1A_uc010zfp.1_5'UTR|PDE1A_uc002uoq.1_Missense_Mutation_p.R103Q|PDE1A_uc010zfq.1_Missense_Mutation_p.R103Q|PDE1A_uc002uor.3_Missense_Mutation_p.R87Q|PDE1A_uc002uou.3_Missense_Mutation_p.R69Q	NM_001003683	NP_001003683	P54750	PDE1A_HUMAN	Homo sapiens phosphodiesterase 1A, calmodulin-dependent (PDE1A), transcript variant 2, mRNA.	103					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.R103R(1)		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)			CCCCATTTTCCGTGTAAAGGT	0.423000														67			31		0	0	0.003271	0	0
CARD10	29775	broad.mit.edu	37	22	37906369	37906369	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr22:37906369C>T	uc003asx.1	-	3	776	c.759G>A	c.(757-759)agG>agA	p.R253R	CARD10_uc003ast.1_Non-coding_Transcript|CARD10_uc003asw.1_5'Flank|CARD10_uc003asy.1_Silent_p.R253R	NM_014550	NP_055365	Q9BWT7	CAR10_HUMAN	Homo sapiens caspase recruitment domain family, member 10 (CARD10), mRNA.	253					activation of NF-kappaB-inducing kinase activity|protein complex assembly|regulation of apoptosis	CBM complex	receptor signaling complex scaffold activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	Melanoma(58;0.0574)					GGCCCCTGGCCCTTCGAAGCA	0.597000														16			16		0	0	0.004990	0	0
KIAA1109	84162	broad.mit.edu	37	4	123277108	123277108	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:123277108C>T	uc003ieh.3	+	80	14508	c.14463C>T	c.(14461-14463)tcC>tcT	p.S4821S	KIAA1109_uc003iem.3_Silent_p.S1177S	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	Homo sapiens KIAA1109 (KIAA1109), mRNA.	4821					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						ACTTTAAATCCATTCATGTTC	0.363000														50			27		0	0	0.001786	0	0
MXRA5	25878	broad.mit.edu	37	X	3241150	3241150	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chrX:3241150G>A	uc004crg.4	-	4	2733	c.2576C>T	c.(2575-2577)tCc>tTc	p.S859F		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	859						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GCTGGCTGAGGAAATGGTACC	0.488000														17			26		0	0	0.003330	0	0
ODZ1	10178	broad.mit.edu	37	X	123654409	123654409	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chrX:123654409C>T	uc010nqy.3	-	17	3323	c.3259G>A	c.(3259-3261)Gac>Aac	p.D1087N	ODZ1_uc011muj.2_Missense_Mutation_p.D1086N|ODZ1_uc004euj.3_Missense_Mutation_p.D1087N	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA.	1087					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						CCATAGATGTCGGTCTTGTTC	0.433000														16			46		0	0	0.003610	0	0
LILRA5	353514	broad.mit.edu	37	19	54823372	54823372	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:54823372G>A	uc002qfe.3	-	3	291	c.171C>T	c.(169-171)atC>atT	p.I57I	LILRA5_uc002qff.3_Silent_p.I45I|LILRA5_uc010yev.2_Silent_p.I57I|LILRA5_uc010yew.2_Silent_p.I45I|LILRA5_uc002qfg.1_Silent_p.I57I|LILRA5_uc002qfh.1_Silent_p.I45I	NM_021250	NP_067073	A6NI73	LIRA5_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 5 (LILRA5), transcript variant 1, mRNA.	57	Ig-like C2-type 1.				innate immune response	extracellular region|integral to membrane	receptor activity			breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TCCCCCGGCTGATCACAGAGC	0.607000														56			8		0	0	0.004482	0	0
OR4C16	219428	broad.mit.edu	37	11	55340503	55340503	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:55340503G>A	uc010rih.2	+	0	900	c.900G>A	c.(898-900)tgG>tgA	p.W300*		NM_001004701	NP_001004701	Q8NGL9	OR4CG_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 16 (OR4C16), mRNA.	300					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41		all_epithelial(135;0.0748)				GGAAGCTTTGGAGCAAGAAAT	0.338000														16			8		0	0	0.003080	0	0
ANGPT1	284	broad.mit.edu	37	8	108334338	108334338	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:108334338G>A	uc003ymn.3	-	3	1062	c.594C>T	c.(592-594)atC>atT	p.I198I	ANGPT1_uc011lhv.2_5'UTR|ANGPT1_uc003ymo.3_Silent_p.I198I|ANGPT1_uc003ymp.4_5'UTR	NM_001146	NP_001137	Q15389	ANGP1_HUMAN	Homo sapiens angiopoietin 1 (ANGPT1), transcript variant 1, mRNA.	198					Tie receptor signaling pathway|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of ERK1 and ERK2 cascade|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis	extracellular space|membrane raft|microvillus|plasma membrane	receptor tyrosine kinase binding			NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	43	Breast(1;5.06e-08)		OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)			CCATTTCTAAGATTTTATGTT	0.308000														34			11		0	0	0.000978	0	0
FARSA	2193	broad.mit.edu	37	19	13041110	13041110	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:13041110G>A	uc002mvs.2	-	3	478	c.430C>T	c.(430-432)Cgg>Tgg	p.R144W	FARSA_uc010xmv.1_Missense_Mutation_p.R144W	NM_004461	NP_004452	Q9Y285	SYFA_HUMAN	Homo sapiens phenylalanyl-tRNA synthetase, alpha subunit (FARSA), mRNA.	144					phenylalanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|phenylalanine-tRNA ligase activity|protein binding|tRNA binding	p.R144W(2)|p.R144R(2)		NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	20					L-Phenylalanine(DB00120)	TGTCCCCCCCGGACCAGCTGG	0.652000														24			12		0	0	0.002450	0	0
NLRP11	204801	broad.mit.edu	37	19	56321627	56321627	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:56321627G>A	uc010ygf.2	-	4	1060	c.349C>T	c.(349-351)Cat>Tat	p.H117Y	NLRP11_uc002qlz.3_Missense_Mutation_p.H18Y|NLRP11_uc002qmb.3_Missense_Mutation_p.H18Y|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.	117							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)		AATTTATAATGAAATTTTCCA	0.388000														30			10		0	0	0.000978	0	0
COL4A2	1284	broad.mit.edu	37	13	111138126	111138126	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr13:111138126C>T	uc001vqx.3	+	33	3439	c.3150C>T	c.(3148-3150)ttC>ttT	p.F1050F		NM_001846	NP_001837	P08572	CO4A2_HUMAN	Homo sapiens collagen, type IV, alpha 2 (COL4A2), mRNA.	1050	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			TGCCAGGATTCCCTGGGGTGG	0.617000														30			8		0	0	0.006214	0	0
PPP1R13L	10848	broad.mit.edu	37	19	45899951	45899952	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:45899951_45899952GG>AA	uc002pbn.3	-	3	640_641	c.563_564CC>TT	c.(562-564)ccc>cTT	p.P188L	PPP1R13L_uc002pbo.3_Missense_Mutation_p.P188L|PPP1R13L_uc002pbp.2_Missense_Mutation_p.P188L	NM_006663	NP_006654	Q8WUF5	IASPP_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 13 like (PPP1R13L), transcript variant 2, mRNA.	188	Pro-rich.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	transcription corepressor activity|transcription factor binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0182)		CCTCCGCCAGGGGGCTGCCGCG	0.797000														11			5		0	0	0.004672	0	0
CTAGE10P	220429	broad.mit.edu	37	13	50465007	50465007	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr13:50465007A>G	uc001vdk.2	+	0	463	c.281A>G	c.(280-282)gAa>gGa	p.E94G						Homo sapiens CTAGE family, member 10, pseudogene (CTAGE10P), non-coding RNA.																		AGACTACTTGAAAAATTTAGC	0.408000														42			24		0	0	0.002299	0	0
CHKA	1119	broad.mit.edu	37	11	67888352	67888352	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:67888352A>C	uc001onj.3	-	0	507	c.293T>G	c.(292-294)tTc>tGc	p.F98C	CHKA_uc001onk.3_Missense_Mutation_p.F98C	NM_001277	NP_001268	P35790	CHKA_HUMAN	Homo sapiens choline kinase alpha (CHKA), transcript variant 1, mRNA.	98					lipid transport|phosphatidylethanolamine biosynthetic process	cytoplasm	ATP binding|choline kinase activity|drug binding|ethanolamine kinase activity|signal transducer activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	13					Choline(DB00122)	GCCGGGCAGGAACTCCTTGCA	0.751000														29			14		0	0	0.002299	0	0
C6orf25	80739	broad.mit.edu	37	6	31691456	31691456	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:31691456C>T	uc011doc.2	+	1	142	c.102C>T	c.(100-102)tcC>tcT	p.S34S	LY6G6C_uc003nwh.3_5'Flank|LY6G6C_uc010jtd.3_5'Flank|C6orf25_uc021yux.1_Silent_p.S34S|C6orf25_uc003nwk.3_Silent_p.S34S|C6orf25_uc011dod.2_Silent_p.S34S|C6orf25_uc003nwn.3_Silent_p.S34S|C6orf25_uc011doe.2_Silent_p.S34S|C6orf25_uc003nwo.3_Silent_p.S34S	NM_138272	NP_612116	O95866	G6B_HUMAN	Homo sapiens chromosome 6 open reading frame 25 (C6orf25), transcript variant 2, mRNA.	34						Golgi apparatus|endoplasmic reticulum|integral to membrane|plasma membrane	heparin binding|receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	9						TGAATCTCTCCTGCGGAGGAG	0.662000														112			36		0	0	0.006999	0	0
POF1B	79983	broad.mit.edu	37	X	84560879	84560879	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chrX:84560879T>C	uc004eer.2	-	12	1501	c.1355A>G	c.(1354-1356)aAa>aGa	p.K452R	POF1B_uc004ees.3_Missense_Mutation_p.K452R	NM_024921	NP_079197	Q8WVV4	POF1B_HUMAN	Homo sapiens premature ovarian failure, 1B (POF1B), mRNA.	452							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						CTCATCCATTTTAGCCTGCAA	0.388000														22			24		0	0	0.003330	0	0
ZCCHC6	79670	broad.mit.edu	37	9	88916314	88916315	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:88916314_88916315GG>AA	uc004aou.3	-	25	4434_4435	c.4296_4297CC>TT	c.(4294-4299)atcctc>atTTtc	p.L1433F	ZCCHC6_uc010mqe.3_Missense_Mutation_p.L333F|ZCCHC6_uc011ltf.2_Non-coding_Transcript|ZCCHC6_uc004aoq.3_Missense_Mutation_p.L1433F|ZCCHC6_uc004aot.3_Missense_Mutation_p.L1197F|ZCCHC6_uc004aor.3_Non-coding_Transcript|ZCCHC6_uc004aos.3_Non-coding_Transcript	NM_001185059	NP_078893	Q5VYS8	TUT7_HUMAN	Homo sapiens zinc finger, CCHC domain containing 6 (ZCCHC6), transcript variant 2, mRNA.	1433					RNA 3'-end processing		RNA uridylyltransferase activity|nucleic acid binding|zinc ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						GGTGGCCTGAGGATCTTCTCCC	0.460000														27			13		0	0	0.004672	0	0
SLC25A13	10165	broad.mit.edu	37	7	95838187	95838187	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:95838187C>T	uc003uog.4	-	4	622	c.431G>A	c.(430-432)aGa>aAa	p.R144K	SLC25A13_uc003uof.4_Missense_Mutation_p.R144K|SLC25A13_uc011kik.2_Missense_Mutation_p.R36K	NM_001160210	NP_001153682	Q9UJS0	CMC2_HUMAN	Homo sapiens solute carrier family 25, member 13 (citrin) (SLC25A13), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	144	EF-hand 3.				ATP biosynthetic process|gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to plasma membrane|mitochondrial inner membrane	L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity|calcium ion binding	p.R144G(1)		breast(4)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|prostate(1)|skin(4)	42	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		STAD - Stomach adenocarcinoma(171;0.194)		L-Aspartic Acid(DB00128)	TGTCAGGTGTCTTTTTCTTTC	0.383000														68			29		0	0	0.007291	0	0
SMTNL1	219537	broad.mit.edu	37	11	57310456	57310456	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:57310456G>A	uc021qjh.1	+	0	343	c.341G>A	c.(340-342)aGg>aAg	p.R114K		NM_001105565	NP_001099035	E9PPJ3	E9PPJ3_HUMAN	Homo sapiens smoothelin-like 1 (SMTNL1), mRNA.	114										endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	8						ATGACTGGCAGGAAAGAAGAG	0.522000														7			4		0	0	0.000248	0	0
OR2M1P	388762	broad.mit.edu	37	1	248285860	248285860	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:248285860C>T	uc001idy.1	+	0	423	c.423C>T	c.(421-423)ttC>ttT	p.F141F						Homo sapiens olfactory receptor, family 2, subfamily M, member 1 pseudogene (OR2M1P), non-coding RNA.																		TGCTTGTTTTCCCTGTTGCAA	0.413000														159			7		0	0	0.000978	0	0
CEP85L	387119	broad.mit.edu	37	6	118887280	118887280	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:118887280G>A	uc003pya.2	-	3	508	c.441C>T	c.(439-441)tcC>tcT	p.S147S	CEP85L_uc003pxz.2_Silent_p.S144S|CEP85L_uc003pyb.3_Silent_p.S144S|CEP85L_uc011ebj.2_Silent_p.S42S|CEP85L_uc003pyc.3_Silent_p.S147S|CEP85L_uc011ebl.1_Silent_p.S42S	NM_001178035	NP_001171506	Q5SZL2	CF204_HUMAN	Homo sapiens centrosomal protein 85kDa-like (CEP85L), transcript variant 3, mRNA.	144						centrosome											TCATGTCTAGGGAAGAGTCCT	0.498000														32			20		0	0	0.007413	0	0
FIBP	9158	broad.mit.edu	37	11	65652610	65652610	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:65652610G>A	uc001ogd.3	-	5	836	c.715C>T	c.(715-717)Cag>Tag	p.Q239*	FIBP_uc001oge.3_Nonsense_Mutation_p.Q232*	NM_198897	NP_942600	O43427	FIBP_HUMAN	Homo sapiens fibroblast growth factor (acidic) intracellular binding protein (FIBP), transcript variant 1, mRNA.	239					fibroblast growth factor receptor signaling pathway	endomembrane system|membrane|microsome|mitochondrion|nucleus	fibroblast growth factor binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	10				READ - Rectum adenocarcinoma(159;0.166)		TTCAAGTCCTGGAGAAATTCC	0.552000											OREG0021089	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		93			33		0	0	0.006230	0	0
RBM46	166863	broad.mit.edu	37	4	155718035	155718035	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:155718035A>T	uc003ioo.3	+	1	304	c.131A>T	c.(130-132)aAa>aTa	p.K44I	RBM46_uc011cim.1_Missense_Mutation_p.K44I|RBM46_uc003iop.1_Missense_Mutation_p.K44I	NM_144979	NP_659416	Q8TBY0	RBM46_HUMAN	Homo sapiens RNA binding motif protein 46 (RBM46), mRNA.	44							RNA binding|nucleotide binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|skin(3)|urinary_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0854)				GGACAAAGGAAATTTGGCGGT	0.393000														49			7		0	0	0.003080	0	0
HOXB13	10481	broad.mit.edu	37	17	46805802	46805802	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:46805802C>T	uc002ioa.3	-	0	310	c.154G>A	c.(154-156)Gat>Aat	p.D52N		NM_006361	NP_006352	Q92826	HXB13_HUMAN	Homo sapiens homeobox B13 (HOXB13), mRNA.	52					angiogenesis|epidermis development|response to wounding		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|lung(6)|prostate(1)	11						CCTGGCAGATCCAAGGGGGCA	0.677000														53			22		0	0	0.002299	0	0
C15orf27	123591	broad.mit.edu	37	15	76430138	76430138	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:76430138G>A	uc002bbq.3	+	2	284	c.129G>A	c.(127-129)gtG>gtA	p.V43V	C15orf27_uc010bkp.3_5'UTR|C15orf27_uc002bbr.3_5'UTR	NM_152335	NP_689548	Q2M3C6	CO027_HUMAN	Homo sapiens chromosome 15 open reading frame 27 (C15orf27), mRNA.	43						integral to membrane		p.L42L(1)		endometrium(1)|large_intestine(1)|lung(10)|pancreas(1)	13						TGCAGCTGGTGAACTTTGCCT	0.527000														46			31		0	0	0.002096	0	0
NDUFAF6	137682	broad.mit.edu	37	8	96044253	96044253	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:96044253C>T	uc003yhj.3	+	1	251	c.228C>T	c.(226-228)tcC>tcT	p.S76S	NDUFAF6_uc011lgs.2_Non-coding_Transcript|NDUFAF6_uc003yhi.3_Silent_p.S24S|NDUFAF6_uc003yhk.3_Non-coding_Transcript	NM_152416	NP_689629	Q330K2	CH038_HUMAN	Homo sapiens chromosome 8 open reading frame 38 (C8orf38), nuclear gene encoding mitochondrial protein, mRNA.	76					biosynthetic process	mitochondrion	transferase activity										ATTTATGCTCCCTGCTGCTCC	0.393000														341			132		0	0	0.003610	0	0
UGT2B7	7364	broad.mit.edu	37	4	69962301	69962301	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:69962301G>A	uc003heg.4	+	0	109	c.63G>A	c.(61-63)ggG>ggA	p.G21G	UGT2B7_uc010ihq.3_Silent_p.G21G	NM_001074	NP_001065	P16662	UD2B7_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B7 (UGT2B7), mRNA.	21					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			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						TTAGCTCTGGGAATTGTGGAA	0.433000														56			45		0	0	0.003214	0	0
SEMA3D	223117	broad.mit.edu	37	7	84727254	84727254	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:84727254G>A	uc003uic.3	-	1	219	c.179C>T	c.(178-180)cCc>cTc	p.P60L	SEMA3D_uc010led.3_Missense_Mutation_p.P60L|SEMA3D_uc010lee.1_Missense_Mutation_p.P60L	NM_152754	NP_689967	O95025	SEM3D_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D (SEMA3D), mRNA.	60	Sema.				cell differentiation|nervous system development	extracellular region|membrane	receptor activity			NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						ACCCAAAAAGGGAATACAGCT	0.388000														117			36		0	0	0.004878	0	0
GABRA1	2554	broad.mit.edu	37	5	161300252	161300252	+	Missense_Mutation	SNP	C	T	T	rs146134200		TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:161300252C>T	uc010jiw.3	+	5	853	c.385C>T	c.(385-387)Cac>Tac	p.H129Y	GABRA1_uc010jix.3_Missense_Mutation_p.H129Y|GABRA1_uc010jiy.3_Missense_Mutation_p.H129Y|GABRA1_uc003lyx.4_Missense_Mutation_p.H129Y|GABRA1_uc010jiz.3_Missense_Mutation_p.H129Y|GABRA1_uc010jja.3_Missense_Mutation_p.H129Y|GABRA1_uc010jjb.3_Missense_Mutation_p.H129Y	NM_000806	NP_001121120	P14867	GBRA1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 1 (GABRA1), transcript variant 1, mRNA.	129				Missing (in Ref. 4; CAA31925).	gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	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)	all cancers(165;0.228)	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)	CACATTTTTCCACAATGGAAA	0.453000														38			24		0	0	0.003330	0	0
DHX8	1659	broad.mit.edu	37	17	41584372	41584372	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:41584372C>T	uc002idu.1	+	13	1801	c.1729_splice	c.e13-1	p.A577_splice	DHX8_uc010wif.1_Splice_Site_p.A486_splice|DHX8_uc010wig.2_Splice_Site_p.A577_splice	NM_004941	NP_004932	Q14562	DHX8_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 8 (DHX8), mRNA.	577	Helicase ATP-binding.					catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|RNA binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		TGCTTTCAGGCCGTCCATGAC	0.393000														27			12		0	0	0.001855	0	0
USP25	29761	broad.mit.edu	37	21	17250673	17250673	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr21:17250673C>T	uc011aby.1	+	25	3474	c.3257C>T	c.(3256-3258)tCt>tTt	p.S1086F	USP25_uc002yjz.1_Missense_Mutation_p.S1048F|USP25_uc010gla.1_Missense_Mutation_p.S411F|USP25_uc002yjy.1_Missense_Mutation_p.S1016F	NM_013396	NP_037528	Q9UHP3	UBP25_HUMAN	Homo sapiens ubiquitin specific peptidase 25 (USP25), mRNA.	1016					protein modification process|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(4)|endometrium(6)|kidney(2)|large_intestine(13)|liver(5)|lung(14)|ovary(4)|prostate(1)|skin(1)|urinary_tract(2)	52				Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)		CTTGATTGTTCTATGGAGATT	0.388000														28			23		0	0	0.003954	0	0
FASTKD2	22868	broad.mit.edu	37	2	207631569	207631569	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:207631569C>T	uc002vbu.3	+	1	562	c.152C>T	c.(151-153)cCa>cTa	p.P51L	MDH1B_uc010ziw.2_5'Flank|MDH1B_uc002vbt.3_5'Flank|MDH1B_uc002vbs.3_5'Flank|MDH1B_uc010fui.3_5'Flank|MDH1B_uc021vvm.1_5'Flank|FASTKD2_uc002vbv.3_Missense_Mutation_p.P51L|FASTKD2_uc002vbx.3_Missense_Mutation_p.P51L|FASTKD2_uc002vbw.1_Missense_Mutation_p.P51L	NM_001136193	NP_055744	Q9NYY8	FAKD2_HUMAN	Homo sapiens FAST kinase domains 2 (FASTKD2), transcript variant 2, mRNA.	51					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(2)	21				LUSC - Lung squamous cell carcinoma(261;0.0718)|Epithelial(149;0.119)|Lung(261;0.138)		CTTTGCAAACCAAAAATAGTT	0.328000														35			12		0	0	0.001368	0	0
NLRP6	171389	broad.mit.edu	37	11	284312	284312	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:284312G>A	uc010qvs.2	+	5	2284	c.2284G>A	c.(2284-2286)Ggc>Agc	p.G762S	NLRP6_uc010qvt.2_Missense_Mutation_p.G761S	NM_138329	NP_612202	P59044	NALP6_HUMAN	Homo sapiens NLR family, pyrin domain containing 6 (NLRP6), mRNA.	762						cytoplasm	ATP binding			breast(1)|skin(1)|upper_aerodigestive_tract(2)	4		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)		GACGGAGCTGGGCCTCCTCCA	0.657000														28			9		0	0	0.006214	0	0
TCIRG1	10312	broad.mit.edu	37	11	67815412	67815413	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:67815412_67815413GG>AA	uc001one.3	+	12	1656_1657	c.1527_1528GG>AA	c.(1525-1530)ctggga>ctAAga	p.G510R	TCIRG1_uc001ong.3_Missense_Mutation_p.G294R|TCIRG1_uc021qmm.1_Missense_Mutation_p.G61R|TCIRG1_uc009ysd.3_5'Flank	NM_006019	NP_006044	Q13488	VPP3_HUMAN	Homo sapiens T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3 (TCIRG1), transcript variant 1, mRNA.	510					ATP hydrolysis coupled proton transport|cellular defense response|cellular iron ion homeostasis|insulin receptor signaling pathway|positive regulation of cell proliferation|transferrin transport	apical plasma membrane|endosome membrane|integral to plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity			breast(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(3)|prostate(1)	16						GTGTCTTCCTGGGACCCTACCC	0.653000														27			14		0	0	0.004672	0	0
CSMD3	114788	broad.mit.edu	37	8	113599308	113599308	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:113599308C>T	uc003ynu.3	-	22	4031	c.3872G>A	c.(3871-3873)gGa>gAa	p.G1291E	CSMD3_uc003yns.3_Missense_Mutation_p.G563E|CSMD3_uc003ynt.3_Missense_Mutation_p.G1251E|CSMD3_uc011lhx.2_Missense_Mutation_p.G1187E	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	1291	CUB 7.					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						AAGAACATCTCCTTGTGCTAA	0.299000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				49			17		0	0	0.004007	0	0
MEIS2	4212	broad.mit.edu	37	15	37242593	37242593	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:37242593G>A	uc001zjr.3	-	8	1983	c.909C>T	c.(907-909)taC>taT	p.Y303Y	MEIS2_uc001zjl.3_Silent_p.Y290Y|MEIS2_uc010ucj.2_Silent_p.Y290Y|MEIS2_uc001zjm.3_Silent_p.Y215Y|MEIS2_uc001zjn.3_Silent_p.Y157Y|MEIS2_uc001zjo.3_Silent_p.Y303Y|MEIS2_uc001zjp.3_Silent_p.Y303Y|MEIS2_uc001zjs.3_Silent_p.Y303Y|MEIS2_uc001zju.3_Silent_p.Y290Y|MEIS2_uc001zjt.3_Silent_p.Y303Y	NM_170675	NP_733775	O14770	MEIS2_HUMAN	Homo sapiens Meis homeobox 2 (MEIS2), transcript variant c, mRNA.	303					negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	36		all_epithelial(112;9.77e-14)|Lung NSC(122;1.42e-09)|all_lung(180;2.2e-08)|Ovarian(310;0.134)|Melanoma(134;0.155)		all cancers(64;9.33e-21)|GBM - Glioblastoma multiforme(113;1.71e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0288)		CTTCGGAAGGGTACGGATGCT	0.383000														83			30		0	0	0.002096	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37508310	37508310	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:37508310C>T	uc021ppc.1	+	33	3601	c.3502C>T	c.(3502-3504)Cac>Tac	p.H1168Y	ANKRD30A_uc001iza.1_Missense_Mutation_p.H1168Y	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	1224						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						ACCTGCTTTCCACATTGCAGG	0.398000														43			15		0	0	0.004007	0	0
ADCY5	111	broad.mit.edu	37	3	123071390	123071390	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:123071390G>A	uc003egh.2	-	1	1173	c.1173C>T	c.(1171-1173)atC>atT	p.I391I	ADCY5_uc021xdd.1_Silent_p.I41I|ADCY5_uc003egg.2_Silent_p.I24I|ADCY5_uc003egi.1_5'UTR	NM_183357	NP_899200	O95622	ADCY5_HUMAN	Homo sapiens adenylate cyclase 5 (ADCY5), transcript variant 1, mRNA.	391					activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|adenylate cyclase activity|metal ion binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		AGACACCCACGATGTTGGTGC	0.587000														36			21		0	0	0.003330	0	0
KDM3B	51780	broad.mit.edu	37	5	137754837	137754837	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:137754837C>T	uc003lcy.1	+	13	3831	c.3631C>T	c.(3631-3633)Cct>Tct	p.P1211S	KDM3B_uc010jew.1_Missense_Mutation_p.P867S|KDM3B_uc011cys.1_Missense_Mutation_p.P243S	NM_016604	NP_057688	Q7LBC6	KDM3B_HUMAN	Homo sapiens lysine (K)-specific demethylase 3B (KDM3B), mRNA.	1211					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						CATCAGGCCTCCTTGCCCTGA	0.502000														28			9		0	0	0.006214	0	0
KL	9365	broad.mit.edu	37	13	33635816	33635816	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr13:33635816C>T	uc001uus.3	+	3	2608	c.2600C>T	c.(2599-2601)cCc>cTc	p.P867L	KL_uc001uur.1_3'UTR	NM_004795	NP_004786	Q9UEF7	KLOT_HUMAN	Homo sapiens klotho (KL), mRNA.	867	Glycosyl hydrolase-1 2.				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		GGAGACCTCCCCATGTACATA	0.517000														52			23		0	0	0.001882	0	0
MLLT6	4302	broad.mit.edu	37	17	36873770	36873770	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:36873770C>T	uc002hqi.4	+	10	1750	c.1737C>T	c.(1735-1737)ctC>ctT	p.L579L	MLLT6_uc002hqj.3_Silent_p.L14L|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.	579					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)					CCTCCAGCCTCCTGGGGCCCC	0.652000			T	MLL	AL									20			9		0	0	0.008291	0	0
DCHS2	54798	broad.mit.edu	37	4	155156309	155156309	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:155156309C>T	uc003inw.2	-	24	8130	c.8130G>A	c.(8128-8130)ggG>ggA	p.G2710G		NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	Homo sapiens dachsous 2 (Drosophila) (DCHS2), transcript variant 1, mRNA.	2710					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		GATCTCCTTCCCCAAATGTTT	0.532000														36			12		0	0	0.001368	0	0
TBX22	50945	broad.mit.edu	37	X	79286391	79286392	+	Missense_Mutation	DNP	GT	CC	CC			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chrX:79286391_79286392GT>CC	uc010nmg.1	+	8	1478_1479	c.1344_1345GT>CC	c.(1342-1347)cagtca>caCCca	p.448_449QS>HP	TBX22_uc004edi.1_Missense_Mutation_p.328_329QS>HP|TBX22_uc004edj.1_Missense_Mutation_p.448_449QS>HP	NM_001109878	NP_001103349	Q9Y458	TBX22_HUMAN	Homo sapiens T-box 22 (TBX22), transcript variant 1, mRNA.	448					multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						ATGGATTACAGTCACCTGGAAA	0.406000														26			29		0	0	0.004672	0	0
TMEM200A	114801	broad.mit.edu	37	6	130762527	130762527	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:130762527G>A	uc003qcb.3	+	1	3338	c.960G>A	c.(958-960)agG>agA	p.R320R	TMEM200A_uc003qca.3_Silent_p.R320R|TMEM200A_uc010kfh.3_Silent_p.R320R|TMEM200A_uc010kfi.3_Silent_p.R320R|TMEM200A_uc021zfg.1_Silent_p.R320R	NM_052913	NP_443145	Q86VY9	T200A_HUMAN	Homo sapiens transmembrane protein 200A (TMEM200A), mRNA.	320						integral to membrane				NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		GTAGGTCAAGGAATTTGTCAA	0.428000														32			20		0	0	0.001882	0	0
MAB21L1	4081	broad.mit.edu	37	13	36049657	36049657	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr13:36049657C>T	uc001uvc.3	-	1	1201	c.619G>A	c.(619-621)Ggt>Agt	p.G207S	NBEA_uc021ric.1_Intron|NBEA_uc021rid.1_Intron|NBEA_uc010abi.3_Intron|NBEA_uc010tee.1_Intron|NBEA_uc010tef.2_5'Flank|NBEA_uc010teg.1_5'Flank	NM_005584	NP_005575	Q13394	MB211_HUMAN	Homo sapiens mab-21-like 1 (C. elegans) (MAB21L1), mRNA.	207					anatomical structure morphogenesis	nucleus				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	20		Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202)		all cancers(112;9.63e-08)|Epithelial(112;1.37e-06)|BRCA - Breast invasive adenocarcinoma(63;0.000659)|OV - Ovarian serous cystadenocarcinoma(117;0.00372)|GBM - Glioblastoma multiforme(144;0.115)		AGATTGAAACCTTCCGCCTTG	0.642000														41			23		0	0	0.003954	0	0
AGPS	8540	broad.mit.edu	37	2	178346790	178346790	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:178346790C>T	uc002ull.2	+	10	1156	c.1109C>T	c.(1108-1110)aCt>aTt	p.T370I	AGPS_uc010zfb.1_Missense_Mutation_p.T280I	NM_003659	NP_003650	O00116	ADAS_HUMAN	Homo sapiens alkylglycerone phosphate synthase (AGPS), mRNA.	370	FAD-binding PCMH-type.				ether lipid biosynthetic process	peroxisomal matrix|peroxisomal membrane|plasma membrane	alkylglycerone-phosphate synthase activity|flavin adenine dinucleotide binding|oxidoreductase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0018)|Epithelial(96;0.00919)|all cancers(119;0.0358)			TTTTCAGGAACTCTTGGTGTA	0.323000														28			9		0	0	0.006214	0	0
GABRA3	2556	broad.mit.edu	37	X	151336712	151336712	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chrX:151336712G>A	uc010ntk.1	-	9	1707	c.1467C>T	c.(1465-1467)atC>atT	p.I489I		NM_000808	NP_000799	P34903	GBRA3_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 3 (GABRA3), mRNA.	489					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)	ACTGTTTGCGGATCATGCCCT	0.517000														12			10		0	0	0.000978	0	0
LGALS9	3965	broad.mit.edu	37	17	25974437	25974437	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:25974437C>T	uc002gzp.3	+	9	1018	c.900C>T	c.(898-900)ttC>ttT	p.F300F	LGALS9_uc002gzq.3_Silent_p.F268F|LGALS9_uc002gzr.3_Silent_p.F211F|LGALS9_uc010waa.2_Intron	NM_009587	NP_033665	O00182	LEG9_HUMAN	Homo sapiens lectin, galactoside-binding, soluble, 9 (LGALS9), transcript variant 1, mRNA.	300	Galectin 2.				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)		AAATGCCCTTCGTCCGTGGCC	0.587000														7			7		0	0	0.001984	0	0
RSF1	51773	broad.mit.edu	37	11	77378399	77378399	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:77378399G>A	uc001oyn.3	-	15	4009	c.3889C>T	c.(3889-3891)Cgc>Tgc	p.R1297C	RSF1_uc001oym.3_Missense_Mutation_p.R1045C	NM_016578	NP_057662	Q96T23	RSF1_HUMAN	Homo sapiens remodeling and spacing factor 1 (RSF1), mRNA.	1297					CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent	RSF complex	histone binding|protein binding|zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			AGCCGTTTGCGGGATGGTTTG	0.542000														50			30		0	0	0.001786	0	0
MOV10L1	54456	broad.mit.edu	37	22	50598148	50598148	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr22:50598148G>A	uc003bjj.3	+	23	3341	c.3258G>A	c.(3256-3258)atG>atA	p.M1086I	MOV10L1_uc003bjk.4_Missense_Mutation_p.M1086I|MOV10L1_uc011arp.2_Missense_Mutation_p.M1066I|MOV10L1_uc003bjl.3_Missense_Mutation_p.M213I	NM_018995	NP_061868	Q9BXT6	M10L1_HUMAN	Homo sapiens Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse) (MOV10L1), transcript variant 1, mRNA.	1086					germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|RNA binding|magnesium ion binding	p.M1086I(2)		breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		TTGATCTGATGGATATAAAGG	0.388000														55			40		0	0	0.002222	0	0
TCEB3B	51224	broad.mit.edu	37	18	44559500	44559501	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr18:44559500_44559501GG>AA	uc002lcr.1	-	0	2488_2489	c.2135_2136CC>TT	c.(2134-2136)ccc>cTT	p.P712L	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.3_Intron	NM_016427	NP_057511	Q8IYF1	ELOA2_HUMAN	Homo sapiens transcription elongation factor B polypeptide 3B (elongin A2) (TCEB3B), mRNA.	712					regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding	p.P712L(2)|p.N711K(1)		breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						TGCTCAGGCAGGGGTTGGCCCG	0.658000														34			16		0	0	0.004672	0	0
MUC16	94025	broad.mit.edu	37	19	9057556	9057556	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:9057556C>T	uc002mkp.3	-	2	30094	c.29890G>A	c.(29890-29892)Ggg>Agg	p.G9964R		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	9966	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						GCTGTAGCCCCAGGAGAACTT	0.483000														170			91		0	0	0.003610	0	0
MYL6B	140465	broad.mit.edu	37	12	56548957	56548957	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:56548957G>A	uc001sjs.3	+	3	579	c.321G>A	c.(319-321)aaG>aaA	p.K107K	MYL6B_uc009zoo.3_Silent_p.K107K|MYL6B_uc001sjt.3_Silent_p.K107K	NM_002475	NP_002466	P14649	MYL6B_HUMAN	Homo sapiens myosin, light chain 6B, alkali, smooth muscle and non-muscle (MYL6B), transcript variant 2, mRNA.	107					muscle filament sliding|skeletal muscle tissue development	cytosol|muscle myosin complex|unconventional myosin complex	calcium ion binding|motor activity|protein binding|structural constituent of muscle			endometrium(2)|kidney(1)|large_intestine(4)	7			OV - Ovarian serous cystadenocarcinoma(18;0.0979)			AGGTGCTCAAGGTCCTGGGGA	0.537000														60			37		0	0	0.004878	0	0
ZNF415	55786	broad.mit.edu	37	19	53612707	53612707	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:53612707G>A	uc002qax.3	-	6	1084	c.735C>T	c.(733-735)ttC>ttT	p.F245F	ZNF415_uc010yds.2_Silent_p.F197F|ZNF415_uc010ydt.2_Silent_p.F197F|ZNF415_uc002qau.3_Silent_p.F184F|ZNF415_uc002qav.3_Silent_p.F209F|ZNF415_uc002qaw.3_Silent_p.F197F|ZNF415_uc002qay.3_Silent_p.F184F|ZNF415_uc002qaz.3_Silent_p.F245F|ZNF415_uc002qba.3_5'UTR			Q09FC8	ZN415_HUMAN	Homo sapiens zinc finger protein 415 (ZNF415), transcript variant 4, non-coding RNA.	245					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleolus	DNA binding|zinc ion binding			breast(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				GBM - Glioblastoma multiforme(134;0.0191)		AAGAACAGATGAAATCAGTCC	0.378000														59			24		0	0	0.003954	0	0
TMTC1	83857	broad.mit.edu	37	12	29786248	29786248	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:29786248G>A	uc021qwi.1	-	5	1019	c.960C>T	c.(958-960)ctC>ctT	p.L320L	TMTC1_uc001riz.3_5'UTR|TMTC1_uc001rja.3_Silent_p.L56L|TMTC1_uc001rjb.3_Silent_p.L212L|TMTC1_uc001rjc.1_Silent_p.L274L	NM_001193451	NP_001180380	Q8IUR5	TMTC1_HUMAN	Homo sapiens transmembrane and tetratricopeptide repeat containing 1 (TMTC1), transcript variant 1, mRNA.	320						integral to membrane	binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					TGAAGGCCAAGAGGTAGGAAT	0.463000														35			18		0	0	0.001523	0	0
FUT1	2523	broad.mit.edu	37	19	49254217	49254217	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:49254217G>A	uc002pkk.3	-	3	1297	c.322C>T	c.(322-324)Cgc>Tgc	p.R108C	FUT1_uc021uwy.1_Missense_Mutation_p.R108C	NM_000148	NP_000139	P19526	FUT1_HUMAN	Homo sapiens fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase, H blood group) (FUT1), mRNA.	108					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to plasma membrane|membrane fraction	galactoside 2-alpha-L-fucosyltransferase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(3)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	17		all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000135)|all cancers(93;0.000354)|Epithelial(262;0.0191)|GBM - Glioblastoma multiforme(486;0.0222)		AAGGCCCGGCGGCCGTTGAGC	0.657000														31			14		0	0	0.002450	0	0
KLHL38	340359	broad.mit.edu	37	8	124663913	124663913	+	Silent	SNP	G	C	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:124663913G>C	uc003yqs.1	-	0	1278	c.1254C>G	c.(1252-1254)ccC>ccG	p.P418P		NM_001081675	NP_001075144	Q2WGJ6	KLH38_HUMAN	Homo sapiens kelch-like 38 (Drosophila) (KLHL38), mRNA.	418										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						GCACCCCCACGGGCATGCTGG	0.557000														28			11		0	0	0.008291	0	0
CC2D2B	387707	broad.mit.edu	37	10	97779559	97779559	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:97779559G>A	uc010qop.2	+	8	990	c.758G>A	c.(757-759)gGa>gAa	p.G253E	LOC728558_uc001klg.2_Intron|LOC728558_uc001klj.2_Intron|CC2D2B_uc001klk.3_Intron|CC2D2B_uc001kll.3_Missense_Mutation_p.G253E	NM_001159747	NP_001153219	Q6DHV5	C2D2B_HUMAN	Homo sapiens coiled-coil and C2 domain containing 2B (CC2D2B), transcript variant 1, mRNA.	253										large_intestine(1)|lung(7)|ovary(1)|urinary_tract(1)	10		Colorectal(252;0.158)		Epithelial(162;7.08e-08)|all cancers(201;2.71e-06)		AACGTTCAAGGAACAAAAATA	0.338000														94			26		0	0	0.005443	0	0
CDH13	1012	broad.mit.edu	37	16	83816972	83816972	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:83816972G>A	uc010vns.2	+	13	2434	c.2170G>A	c.(2170-2172)Gta>Ata	p.V724I	CDH13_uc002fgx.3_Missense_Mutation_p.V677I|CDH13_uc010vnt.2_Missense_Mutation_p.V423I|CDH13_uc010vnu.2_Missense_Mutation_p.V638I	NM_001220488	NP_001207417	P55290	CAD13_HUMAN	Homo sapiens cadherin 13, H-cadherin (heart) (CDH13), transcript variant 2, mRNA.	677					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)		AGATCTCAGGGTACAAGTGTG	0.527000														31			14		0	0	0.002450	0	0
UNC13A	23025	broad.mit.edu	37	19	17752302	17752302	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:17752302C>T	uc021uqk.1	-	20	2575	c.2533G>A	c.(2533-2535)Ggt>Agt	p.G845S		NM_001080421	NP_001073890	Q9UPW8	UN13A_HUMAN	Homo sapiens unc-13 homolog A (C. elegans) (UNC13A), mRNA.	846					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						GCATCGTCACCCTTGGCATCT	0.547000														33			18		0	0	0.007413	0	0
ANO4	121601	broad.mit.edu	37	12	101333228	101333228	+	Splice_Site	SNP	A	G	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:101333228A>G	uc010svm.1	+	4	869	c.297_splice	c.e4+1	p.E99_splice	ANO4_uc010svl.1_Splice_Site|ANO4_uc001thw.2_Splice_Site_p.E64_splice|ANO4_uc001thx.2_Splice_Site_p.E99_splice	NM_178826	NP_849148	Q32M45	ANO4_HUMAN	Homo sapiens anoctamin 4 (ANO4), mRNA.	99						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						GCCGGGGGAGAGGTAAGAGTA	0.438000										HNSCC(74;0.22)				52			5		0	0	0.001168	0	0
FAM135B	51059	broad.mit.edu	37	8	139153502	139153502	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:139153502G>A	uc003yuy.3	-	16	3900	c.3729C>T	c.(3727-3729)ttC>ttT	p.F1243F	FAM135B_uc003yux.3_Silent_p.F1144F|FAM135B_uc003yuz.3_Non-coding_Transcript	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA.	1243										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)			AGAGTGACAGGAACGTGTGGA	0.502000										HNSCC(54;0.14)				40			25		0	0	0.005443	0	0
SEZ6L2	26470	broad.mit.edu	37	16	29906686	29906686	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:29906686G>A	uc010vec.2	-	4	992	c.747C>T	c.(745-747)tcC>tcT	p.S249S	BOLA2_uc010bzb.1_Intron|SEZ6L2_uc002dup.4_Silent_p.S179S|SEZ6L2_uc002dur.4_Silent_p.S179S|SEZ6L2_uc002duq.4_Silent_p.S249S|SEZ6L2_uc010ved.2_Silent_p.S205S|SEZ6L2_uc002dus.4_Intron	NM_001243332	NP_001230261	Q6UXD5	SE6L2_HUMAN	Homo sapiens seizure related 6 homolog (mouse)-like 2 (SEZ6L2), transcript variant 5, mRNA.	249	CUB 1.					endoplasmic reticulum membrane|integral to membrane|plasma membrane				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CTCCAAGCATGGATGAGTTGG	0.632000														70			30		0	0	0.001786	0	0
NOL8	55035	broad.mit.edu	37	9	95086441	95086441	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:95086441C>T	uc022bjx.1	-	1	340	c.3G>A	c.(1-3)atG>atA	p.M1I	CENPP_uc004arz.3_5'Flank|CENPP_uc010mqx.3_5'Flank|NOL8_uc022bjw.1_5'UTR|NOL8_uc004arx.3_Missense_Mutation_p.M1I|NOL8_uc022bjy.1_Non-coding_Transcript	NM_017948	NP_060418	Q76FK4	NOL8_HUMAN	Homo sapiens nucleolar protein 8 (NOL8), transcript variant 1, mRNA.	1					DNA replication|positive regulation of cell growth	nucleolus	RNA binding|nucleotide binding|protein binding			endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						TGTTCACTTTCATGAAGGCTG	0.408000														155			42		0	0	0.003610	0	0
ZFP64	55734	broad.mit.edu	37	20	50769309	50769310	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr20:50769309_50769310GG>AA	uc002xwl.3	-	5	1770_1771	c.1421_1422CC>TT	c.(1420-1422)ccc>cTT	p.P474L	ZFP64_uc002xwk.3_Intron|ZFP64_uc002xwm.3_Missense_Mutation_p.P472L|ZFP64_uc002xwn.3_Missense_Mutation_p.P420L	NM_018197	NP_060667	Q9NPA5	ZF64A_HUMAN	Homo sapiens zinc finger protein 64 homolog (mouse) (ZFP64), transcript variant 1, mRNA.	474					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.T473T(2)		breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						CCACAGTGAGGGGCGTGGCGGG	0.604000														54			28		0	0	0.004672	0	0
HEATR7B2	133558	broad.mit.edu	37	5	41061700	41061700	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:41061700T>G	uc003jmj.4	-	5	1077	c.587A>C	c.(586-588)aAg>aCg	p.K196T	HEATR7B2_uc021xxt.1_Missense_Mutation_p.K196T	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	196							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						AGGGGCCCACTTCTCCATTAT	0.488000														240			16		0	0	0.006122	0	0
C1orf172	126695	broad.mit.edu	37	1	27278778	27278778	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:27278778T>C	uc001bni.2	-	1	187	c.94A>G	c.(94-96)Aaa>Gaa	p.K32E	BC016143_uc021ojq.1_Intron	NM_152365	NP_689578	Q8NAX2	CA172_HUMAN	Homo sapiens chromosome 1 open reading frame 172 (C1orf172), mRNA.	32	Pro-rich.									NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.37e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.22e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)		TGAGGTGGTTTATCATATGTC	0.637000														45			14		0	0	0.003163	0	0
SLC37A2	219855	broad.mit.edu	37	11	124951800	124951800	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:124951800C>T	uc010sau.2	+	8	1134	c.883C>T	c.(883-885)Cca>Tca	p.P295S	SLC37A2_uc001qbn.3_Missense_Mutation_p.P295S|SLC37A2_uc010sav.1_5'Flank|SLC37A2_uc001qbp.3_5'Flank	NM_198277	NP_938018	Q8TED4	SPX2_HUMAN	Homo sapiens solute carrier family 37 (glycerol-3-phosphate transporter), member 2 (SLC37A2), transcript variant 1, mRNA.	295					carbohydrate transport|transmembrane transport	integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	27	all_hematologic(175;0.215)	Breast(109;0.012)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.152)|all_lung(97;0.159)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0384)		GCTCCGGATCCCAGTAAGAAG	0.522000														29			17		0	0	0.001523	0	0
FRMPD3	84443	broad.mit.edu	37	X	106845889	106845889	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chrX:106845889G>A	uc022cce.1	+	0	2255	c.1887G>A	c.(1885-1887)agG>agA	p.R629R				Q5JV73	FRPD3_HUMAN	Homo sapiens mRNA for KIAA1817 protein, partial cds.	1573						cytoskeleton				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1)	28						TGGTGAGCAGGACCCTGCAGG	0.607000														12			13		0	0	0.003163	0	0
POLG2	11232	broad.mit.edu	37	17	62481945	62481945	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:62481945G>A	uc002jei.3	-	4	1108	c.1010C>T	c.(1009-1011)tCt>tTt	p.S337F	POLG2_uc021ubq.1_Missense_Mutation_p.S70F|POLG2_uc010deg.2_Missense_Mutation_p.S337F	NM_007215	NP_009146	Q9UHN1	DPOG2_HUMAN	Homo sapiens polymerase (DNA directed), gamma 2, accessory subunit (POLG2), nuclear gene encoding mitochondrial protein, mRNA.	337					DNA repair|DNA-dependent DNA replication|glycyl-tRNA aminoacylation	mitochondrial chromosome	ATP binding|DNA-directed DNA polymerase activity|glycine-tRNA ligase activity|identical protein binding|single-stranded DNA binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(4)|skin(2)|stomach(1)|urinary_tract(1)	15	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;4.97e-11)			CCCATTTACAGAGAGAACACA	0.388000														47			36		0	0	0.002222	0	0
TCRA	0	broad.mit.edu	37	14	22471471	22471471	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:22471471G>A	uc001wct.4	+	0	127	c.22G>A	c.(22-24)Gga>Aga	p.G8R	TCRA_uc001wbw.2_Intron|TCRA_uc021rpe.1_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron|TCRA_uc021rpj.1_Intron|T-Cell_Receptor_V-alpha_region_uc021rpl.1_Intron|TCRA_uc010tmo.2_Intron|TCRA_uc001wco.3_Intron|TCRA_uc010aje.1_Intron|TCRA_uc001wcp.2_Intron|TCRA_uc001wcr.1_Intron|TCRA_uc001wcs.1_Intron|TCRA_uc010ajf.1_Intron|TCRA_uc010tmm.2_Intron					Homo sapiens mRNA for T cell receptor alpha variable 19, partial cds, clone: SEB 336.																		TTCCTGCTCAGGACTTGTGAT	0.388000														48			26		0	0	0.007291	0	0
MAP2K1	5604	broad.mit.edu	37	15	66729162	66729162	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:66729162C>T	uc010bhq.3	+	2	845	c.370C>T	c.(370-372)Ccg>Tcg	p.P124S	MAP2K1_uc010ujp.2_Missense_Mutation_p.P102S	NM_002755	NP_002746	Q02750	MP2K1_HUMAN	Homo sapiens mitogen-activated protein kinase kinase 1 (MAP2K1), mRNA.	124	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|activation of MAPKK activity|axon guidance|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|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|plasma membrane	ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.P124S(12)		endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(8)|urinary_tract(1)	20						GTGCAACTCTCCGTACATCGT	0.507000														37			13		0	0	0.001855	0	0
PPAPDC1B	84513	broad.mit.edu	37	8	38124821	38124821	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:38124821C>T	uc003xlf.4	-	4	448	c.427G>A	c.(427-429)Gag>Aag	p.E143K	PPAPDC1B_uc003xle.4_Missense_Mutation_p.E102K|PPAPDC1B_uc003xlg.4_Missense_Mutation_p.E143K|PPAPDC1B_uc010lwd.3_Missense_Mutation_p.E143K	NM_001102559	NP_001096029	Q8NEB5	PPC1B_HUMAN	Homo sapiens phosphatidic acid phosphatase type 2 domain containing 1B (PPAPDC1B), transcript variant 1, mRNA.	143					phospholipid dephosphorylation	cytoplasm|integral to membrane|plasma membrane	phosphatidate phosphatase activity			kidney(1)|lung(1)	2	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.121)	BRCA - Breast invasive adenocarcinoma(5;3.04e-26)|COAD - Colon adenocarcinoma(9;0.188)			TTTCGGCCCTCATTCACCACG	0.473000														43			18		0	0	0.008871	0	0
MUC16	94025	broad.mit.edu	37	19	9074894	9074894	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:9074894G>A	uc002mkp.3	-	2	12756	c.12552C>T	c.(12550-12552)tcC>tcT	p.S4184S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	4186	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						GTGGAGTAGAGGAGGGACTGT	0.507000														36			22		0	0	0.002780	0	0
DDX60	55601	broad.mit.edu	37	4	169167646	169167646	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:169167646G>A	uc003irp.3	-	29	4379	c.4087C>T	c.(4087-4089)Cct>Tct	p.P1363S		NM_017631	NP_060101	Q8IY21	DDX60_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 60 (DDX60), mRNA.	1363	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		ATGCTGAGAGGGAAGTGTCCT	0.488000														30			16		0	0	0.004007	0	0
STAMBPL1	57559	broad.mit.edu	37	10	90665351	90665351	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:90665351T>G	uc001kfk.3	+	2	605	c.182T>G	c.(181-183)aTg>aGg	p.M61R	STAMBPL1_uc010qmx.1_Missense_Mutation_p.M61R|STAMBPL1_uc009xto.3_Non-coding_Transcript|STAMBPL1_uc001kfl.3_Missense_Mutation_p.M61R|STAMBPL1_uc001kfm.3_5'Flank	NM_020799	NP_065850	Q96FJ0	STALP_HUMAN	Homo sapiens STAM binding protein-like 1 (STAMBPL1), mRNA.	61							metal ion binding|metallopeptidase activity|protein binding	p.R60W(2)		breast(2)|endometrium(1)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|skin(1)	11		Colorectal(252;0.0381)		Colorectal(12;6.38e-05)|COAD - Colon adenocarcinoma(12;7.75e-05)		ATGGAGAGGATGGCGTCTGTG	0.403000														67			25		0	0	0.006320	0	0
RASGRF1	5923	broad.mit.edu	37	15	79290502	79290502	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:79290502C>T	uc002beq.3	-	19	3325	c.2950G>A	c.(2950-2952)Gaa>Aaa	p.E984K	RASGRF1_uc002bep.3_Missense_Mutation_p.E968K|RASGRF1_uc010blm.1_Missense_Mutation_p.E893K|RASGRF1_uc002ber.4_Missense_Mutation_p.E968K|RASGRF1_uc010unh.1_Missense_Mutation_p.E379K|RASGRF1_uc002beo.3_Missense_Mutation_p.E200K	NM_002891	NP_002882	Q13972	RGRF1_HUMAN	Homo sapiens Ras protein-specific guanine nucleotide-releasing factor 1 (RASGRF1), transcript variant 1, mRNA.	986					activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						ATGACTTCTTCCAGGAAGCCG	0.557000														63			18		0	0	0.002299	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140222729	140222729	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:140222729C>T	uc003lhs.2	+	0	1823	c.1823C>T	c.(1822-1824)tCg>tTg	p.S608L	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_uc003lhr.1_Missense_Mutation_p.S608L	NM_018911	NP_061734	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 8 (PCDHA8), transcript variant 1, mRNA.	621	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.S608L(4)		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)			GCGTGGCTTTCGTATGAGCTG	0.682000														44			22		0	0	0.002299	0	0
KRT82	3888	broad.mit.edu	37	12	52788775	52788775	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:52788775G>A	uc001sai.1	-	8	1641	c.1526C>T	c.(1525-1527)cCc>cTc	p.P509L		NM_033033	NP_149022	Q9NSB4	KRT82_HUMAN	Homo sapiens keratin 82 (KRT82), mRNA.	509	Tail.					keratin filament	protein binding|structural constituent of epidermis	p.P509L(2)		endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	29				BRCA - Breast invasive adenocarcinoma(357;0.193)		CTTGTGGCTGGGGGAGCTGCC	0.622000														30			16		0	0	0.004990	0	0
SALL3	27164	broad.mit.edu	37	18	76757144	76757145	+	Missense_Mutation	DNP	CC	TT	TT	rs148335210	byFrequency	TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr18:76757144_76757145CC>TT	uc002lmt.3	+	2	3725_3726	c.3725_3726CC>TT	c.(3724-3726)ccc>cTT	p.P1242L	SALL3_uc010dra.3_Missense_Mutation_p.P777L	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN	Homo sapiens sal-like 3 (Drosophila) (SALL3), mRNA.	1242					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P1242P(2)		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)		CCCCAGCTCCCCGTGAGTCTTG	0.614000														69			29		0	0	0.004672	0	0
PCDHB9	56127	broad.mit.edu	37	5	140568301	140568301	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:140568301C>T	uc003liw.1	+	1	1407	c.1407C>T	c.(1405-1407)atC>atT	p.I469I		NM_019119	NP_061992	Q9Y5E1	PCDB9_HUMAN	Homo sapiens protocadherin beta 9 (PCDHB9), mRNA.	470	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding							KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCTGCACATCGGCAGTGTCA	0.652000														71			28		0	0	0.007291	0	0
NCKAP5L	57701	broad.mit.edu	37	12	50190622	50190622	+	Missense_Mutation	SNP	C	T	T	rs34203986		TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:50190622C>T	uc009zlk.2	-	7	1223	c.1021G>A	c.(1021-1023)Gcc>Acc	p.A341T	NCKAP5L_uc001rvc.3_5'Flank|NCKAP5L_uc001rvb.2_5'UTR	NM_001037806	NP_001032895	Q9HCH0	NCK5L_HUMAN	Homo sapiens NCK-associated protein 5-like (NCKAP5L), mRNA.	337	Pro-rich.									central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						GCCAGGAAGGCCTGTAGGTAA	0.657000														19			8		0	0	0.004482	0	0
CPS1	1373	broad.mit.edu	37	2	211527860	211527860	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:211527860C>T	uc010fur.3	+	33	4041	c.3959C>T	c.(3958-3960)tCc>tTc	p.S1320F	CPS1_uc002vee.4_Missense_Mutation_p.S1314F|CPS1_uc010fus.3_Missense_Mutation_p.S863F	NM_001122633	NP_001116105	P31327	CPSM_HUMAN	Homo sapiens carbamoyl-phosphate synthase 1, mitochondrial (CPS1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	1314					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)		CCCATGTTTTCCTGGCCCCGG	0.388000														45			12		0	0	0.003163	0	0
PTPRD	5789	broad.mit.edu	37	9	8484184	8484184	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:8484184C>T	uc003zkk.3	-	29	4091	c.3348G>A	c.(3346-3348)ggG>ggA	p.G1116G	PTPRD_uc003zkp.3_Silent_p.G705G|PTPRD_uc003zkq.3_Silent_p.G705G|PTPRD_uc003zkr.3_Silent_p.G700G|PTPRD_uc003zks.3_Silent_p.G695G|PTPRD_uc022bdj.1_Silent_p.G702G	NM_002839	NP_002830	P23468	PTPRD_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA.	1116					transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		AGTTGGTCTTCCCAATGAAGG	0.473000										TSP Lung(15;0.13)				82			17		0	0	0.008871	0	0
TNXB	7148	broad.mit.edu	37	6	32020765	32020765	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:32020765C>T	uc003nzl.2	-	25	8993	c.8791G>A	c.(8791-8793)Gag>Aag	p.E2931K		NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	2978	Fibronectin type-III 21.				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						GTTTCTTCCTCTGCAGCTGAG	0.642000														130			27		0	0	0.004656	0	0
NEBL	10529	broad.mit.edu	37	10	21101732	21101732	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:21101732G>A	uc001iqi.3	-	23	2881	c.2484C>T	c.(2482-2484)atC>atT	p.I828I	NEBL_uc001iqj.3_Non-coding_Transcript|NEBL_uc001iqk.3_Silent_p.I165I|NEBL_uc021pnu.1_Silent_p.I165I	NM_006393	NP_006384	O76041	NEBL_HUMAN	Homo sapiens nebulette (NEBL), transcript variant 1, mRNA.	828					regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						CCATCTCCACGATGTGAGGGT	0.542000														34			12		0	0	0.002450	0	0
PLEKHM1	9842	broad.mit.edu	37	17	43531545	43531545	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:43531545G>A	uc002ija.3	-	6	1843	c.1673C>T	c.(1672-1674)tCc>tTc	p.S558F	PLEKHM1_uc010wjm.2_Missense_Mutation_p.S530F|PLEKHM1_uc002ijb.3_Missense_Mutation_p.S33F|PLEKHM1_uc010wjn.1_Missense_Mutation_p.S507F|PLEKHM1_uc002ijc.3_Missense_Mutation_p.S12F	NM_014798	NP_055613	Q9Y4G2	PKHM1_HUMAN	Homo sapiens pleckstrin homology domain containing, family M (with RUN domain) member 1 (PLEKHM1), transcript variant 1, mRNA.	558	PH 1.				intracellular signal transduction	cytoplasm	metal ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26	Renal(3;0.0405)					CTCCAGCGGGGAGAGCTCGCA	0.627000														9			6		0	0	0.001984	0	0
CYP2E1	1571	broad.mit.edu	37	10	135345089	135345089	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:135345089G>A	uc001lnj.1	+	3	371	c.338_splice	c.e3-1	p.G113_splice	CYP2E1_uc001lnk.1_Splice_Site|CYP2E1_uc009ybl.1_Intron|CYP2E1_uc009ybm.1_Splice_Site|CYP2E1_uc001lnl.1_5'UTR	NM_000773	NP_000764	P05181	CP2E1_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily E, polypeptide 1 (CYP2E1), mRNA.	113					drug metabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding			NS(1)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(7)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	Acetaminophen(DB00316)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Dacarbazine(DB00851)|Dapsone(DB00250)|Enflurane(DB00228)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethosuximide(DB00593)|Fomepizole(DB01213)|Glutathione(DB00143)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Isoniazid(DB00951)|Menadione(DB00170)|Mephenytoin(DB00532)|Methoxyflurane(DB01028)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitrofurantoin(DB00698)|Orphenadrine(DB01173)|Phenelzine(DB00780)|Quinidine(DB00908)|S-Adenosylmethionine(DB00118)|Sevoflurane(DB01236)|Theophylline(DB00277)|Tolbutamide(DB01124)	TCTGCCTTAGGAATCATTTTT	0.517000									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of					99			24		0	0	0.003954	0	0
FGFR1	2260	broad.mit.edu	37	8	38277080	38277080	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:38277080T>C	uc022aua.1	-	8	2197	c.1255A>G	c.(1255-1257)Aag>Gag	p.K419E	FGFR1_uc010lwf.3_5'Flank|FGFR1_uc011lbu.2_Missense_Mutation_p.K450E|FGFR1_uc011lbv.2_Missense_Mutation_p.K417E|FGFR1_uc011lbw.2_Missense_Mutation_p.K330E|FGFR1_uc003xlp.3_Missense_Mutation_p.K419E|FGFR1_uc022aub.1_Missense_Mutation_p.K417E|FGFR1_uc022auc.1_Missense_Mutation_p.K330E|FGFR1_uc022aud.1_Missense_Mutation_p.K328E|FGFR1_uc010lwk.3_Missense_Mutation_p.K411E|FGFR1_uc011lbr.2_Non-coding_Transcript|FGFR1_uc011lbs.2_Missense_Mutation_p.K259E|FGFR1_uc011lbt.1_3'UTR	NM_023110	NP_075598	P11362	FGFR1_HUMAN	Homo sapiens fibroblast growth factor receptor 1 (FGFR1), transcript variant 1, mRNA.	419					MAPKKK cascade|axon guidance|cell growth|insulin receptor signaling pathway|positive regulation of cell proliferation|skeletal system development	extracellular region|integral to plasma membrane|membrane fraction	ATP binding|fibroblast growth factor receptor activity|heparin binding|protein homodimerization activity		FGFR1/ZNF703(2)	breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	50	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		Palifermin(DB00039)	GGGATGCTCTTGGCCAGCTTG	0.552000		1	T	"""BCR, FOP, ZNF198, CEP1"""	"""MPD, NHL"""		"""Pfeiffer syndrome, Kallman syndrome"""							32			13		0	0	0.002450	0	0
DNAH11	8701	broad.mit.edu	37	7	21856200	21856200	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:21856200C>T	uc003svc.3	+	64	10500	c.10469C>T	c.(10468-10470)gCc>gTc	p.A3490V		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	3490	AAA 5 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						ACCGAAAATGCCGCTATCCTA	0.493000									Kartagener syndrome					36			7		0	0	0.001984	0	0
TBC1D1	23216	broad.mit.edu	37	4	38016171	38016171	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:38016171C>T	uc003gtb.3	+	2	817	c.459C>T	c.(457-459)atC>atT	p.I153I	TBC1D1_uc011byd.2_Silent_p.I153I|TBC1D1_uc010ifd.3_Intron|TBC1D1_uc011byf.1_Silent_p.I24I	NM_015173	NP_055988	Q86TI0	TBCD1_HUMAN	Homo sapiens TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1 (TBC1D1), transcript variant 1, mRNA.	153						nucleus	Rab GTPase activator activity			NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						CGGGGAAGATCGCCCGGCAGG	0.597000														82			15		0	0	0.008871	0	0
KLHDC7A	127707	broad.mit.edu	37	1	18808266	18808267	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:18808266_18808267CC>TT	uc001bax.3	+	0	843_844	c.791_792CC>TT	c.(790-792)tcc>tTT	p.S264F	KLHDC7A_uc009vpg.3_Missense_Mutation_p.S46F	NM_152375	NP_689588	Q5VTJ3	KLD7A_HUMAN	Homo sapiens kelch domain containing 7A (KLHDC7A), mRNA.	264						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)		ACCTTCTCATCCATAGCCCGCG	0.589000														22			23		0	0	0.004672	0	0
AIM1L	55057	broad.mit.edu	37	1	26672014	26672015	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:26672014_26672015GG>AA	uc001bmd.4	-	1	1284_1285	c.1134_1135CC>TT	c.(1132-1137)cacccc>caTTcc	p.P379S		NM_001039775	NP_001034864	Q8N1P7	AIM1L_HUMAN	Homo sapiens absent in melanoma 1-like (AIM1L), mRNA.	0	Beta/gamma crystallin 'Greek key' 8.						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)		CGGGCCCCGGGGTGAGTGGGCA	0.649000														39			12		0	0	0.004672	0	0
LYVE1	10894	broad.mit.edu	37	11	10582155	10582155	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:10582155T>A	uc001miv.2	-	3	876	c.590A>T	c.(589-591)aAa>aTa	p.K197I	MRVI1-AS1_uc001miu.3_Intron|MRVI1-AS1_uc021qds.1_Intron|LYVE1_uc010rca.1_Missense_Mutation_p.K93I	NM_006691	NP_006682	Q9Y5Y7	LYVE1_HUMAN	Homo sapiens lymphatic vessel endothelial hyaluronan receptor 1 (LYVE1), mRNA.	197					anatomical structure morphogenesis|cell-matrix adhesion|cellular component movement|response to wounding|transport	integral to plasma membrane|membrane fraction				central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8				all cancers(16;7.22e-08)|Epithelial(150;1.03e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0609)		AATCAATTTTTTTCTCCGTGG	0.423000														41			24		0	0	0.002780	0	0
SERPINB2	5055	broad.mit.edu	37	18	61587116	61587116	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr18:61587116C>T	uc010xev.2	+	4	557	c.467C>T	c.(466-468)tCt>tTt	p.S156F	SERPINB2_uc010xew.2_Missense_Mutation_p.S156F	NM_005024	NP_005015	P05120	PAI2_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 10 (SERPINB10), mRNA.	171					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)	GACATCAACTCTTGGGTTGAA	0.388000														41			21		0	0	0.002299	0	0
abParts	0	broad.mit.edu	37	14	106631189	106631189	+	RNA	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:106631189C>T	uc021ser.1	-	1560		c.30572G>A								Parts of antibodies, mostly variable regions.																		ATCCCAACCACTATGCCCTTG	0.537000														5			8		0	0	0.003080	0	0
PDLIM5	10611	broad.mit.edu	37	4	95585166	95585166	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:95585166C>T	uc003hti.3	+	12	1890	c.1739C>T	c.(1738-1740)tCc>tTc	p.S580F	PDLIM5_uc011cdx.1_Missense_Mutation_p.S477F|PDLIM5_uc003htj.3_Missense_Mutation_p.S255F|PDLIM5_uc003htk.3_Missense_Mutation_p.S609F|PDLIM5_uc011cdy.2_Missense_Mutation_p.S458F|PDLIM5_uc003hth.3_Missense_Mutation_p.S471F|PDLIM5_uc003htl.3_Missense_Mutation_p.S255F	NM_006457	NP_006448	Q96HC4	PDLI5_HUMAN	Homo sapiens PDZ and LIM domain 5 (PDLIM5), transcript variant 1, mRNA.	580	LIM zinc-binding 3.				regulation of dendritic spine morphogenesis|regulation of synaptogenesis	actin cytoskeleton|cell junction|cytosol|postsynaptic density|postsynaptic membrane|synaptosome	actin binding|actinin binding|protein kinase C binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.84e-09)		ACCTTTTTCTCCAAGAAGGAC	0.363000														65			8		0	0	0.006214	0	0
LILRA1	11024	broad.mit.edu	37	19	55086332	55086332	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:55086332C>T	uc010ern.3	+	4	956	c.487C>T	c.(487-489)Cca>Tca	p.P163S	LILRA1_uc002qgg.4_Missense_Mutation_p.P163S|LILRA1_uc002qgf.3_Missense_Mutation_p.P163S|LILRA1_uc010yfe.1_Missense_Mutation_p.P163S|LILRA1_uc010yff.1_Missense_Mutation_p.P151S|LILRA1_uc010ero.3_Missense_Mutation_p.P151S|LILRA1_uc010yfg.1_Missense_Mutation_p.P163S			O75019	LIRA1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2 (LILRA2), transcript variant 2, mRNA.	165	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		AGATGAACACCCACAACGCCT	0.592000														58			27		0	0	0.007291	0	0
ERC2	26059	broad.mit.edu	37	3	56468381	56468381	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:56468381G>A	uc021wzo.1	-	0	795	c.655C>T	c.(655-657)Cag>Tag	p.Q219*	ERC2_uc003dhr.1_Nonsense_Mutation_p.Q219*	NM_015576	NP_056391	O15083	ERC2_HUMAN	Homo sapiens ELKS/RAB6-interacting/CAST family member 2 (ERC2), mRNA.	219						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		TGACCTACCTGATTTTCTTCA	0.478000														40			18		0	0	0.006122	0	0
PLG	5340	broad.mit.edu	37	6	161160103	161160103	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:161160103C>T	uc003qtm.4	+	15	1993	c.1881C>T	c.(1879-1881)tcC>tcT	p.S627S		NM_000301	NP_000292	P00747	PLMN_HUMAN	Homo sapiens plasminogen (PLG), transcript variant 1, mRNA.	627	Peptidase S1.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	TTTCTAGGTCCCCAAGGCCTT	0.507000														46			24		0	0	0.006320	0	0
SLC14A1	6563	broad.mit.edu	37	18	43310265	43310265	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr18:43310265G>A	uc010dnk.3	+	4	370	c.148_splice	c.e4-1	p.E50_splice	SLC14A1_uc002lbi.4_Intron|SLC14A1_uc010xcn.2_Splice_Site|SLC14A1_uc002lbf.4_Splice_Site|SLC14A1_uc002lbg.4_Splice_Site|SLC14A1_uc010xco.2_Intron|SLC14A1_uc002lbh.4_Intron|SLC14A1_uc002lbj.4_Splice_Site_p.E50_splice|SLC14A1_uc002lbk.4_5'UTR|SLC14A1_uc021ujg.1_Splice_Site	NM_001128588	NP_056949	Q13336	UT1_HUMAN	Homo sapiens solute carrier family 14 (urea transporter), member 1 (Kidd blood group) (SLC14A1), transcript variant 1, mRNA.	0						integral to plasma membrane	urea transmembrane transporter activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	21						TTCCCTCAAGGAGCCAGAGGA	0.517000														29			12		0	0	0.001855	0	0
PLIN4	729359	broad.mit.edu	37	19	4511782	4511782	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:4511782C>T	uc002mar.1	-	2	2148	c.2148G>A	c.(2146-2148)aaG>aaA	p.K716K	PLIN4_uc010dub.1_5'Flank	NM_001080400	NP_001073869	Q96Q06	PLIN4_HUMAN	Homo sapiens perilipin 4 (PLIN4), mRNA.	716	27 X 33 AA approximate tandem repeat.					lipid particle|plasma membrane				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						AGACGGTGTCCTTGGTACCAG	0.577000														168			27		0	0	0.002445	0	0
PRSS55	203074	broad.mit.edu	37	8	10388883	10388883	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:10388883C>T	uc003wta.3	+	2	466	c.426C>T	c.(424-426)atC>atT	p.I142I	AK307207_uc010lru.3_Intron|PRSS55_uc022art.1_Silent_p.I142I|PRSS55_uc003wtb.3_Non-coding_Transcript	NM_198464	NP_940866	Q6UWB4	PRS55_HUMAN	Homo sapiens protease, serine, 55 (PRSS55), transcript variant 1, mRNA.	142	Peptidase S1.				proteolysis	integral to membrane	serine-type endopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)	31						TCGCCAGCATCATTCTTCACA	0.512000														88			49		0	0	0.003610	0	0
SBF2	81846	broad.mit.edu	37	11	9838486	9838486	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:9838486C>T	uc001mib.2	-	28	4017	c.3879G>A	c.(3877-3879)aaG>aaA	p.K1293K	SBF2_uc001mid.2_5'UTR	NM_030962	NP_112224	Q86WG5	MTMRD_HUMAN	Homo sapiens SET binding factor 2 (SBF2), mRNA.	1293	Myotubularin phosphatase.				myelination	cytoplasm|membrane	phosphatase activity|protein binding			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		CCGAGTGATCCTTGCCTGCCA	0.512000														45			27		0	0	0.005443	0	0
GRM3	2913	broad.mit.edu	37	7	86468243	86468243	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:86468243C>T	uc003uid.3	+	3	2512	c.1413C>T	c.(1411-1413)ttC>ttT	p.F471F	GRM3_uc010lef.3_Intron|GRM3_uc010leg.3_Silent_p.F343F|GRM3_uc010leh.3_Silent_p.F63F	NM_000840	NP_000831	Q14832	GRM3_HUMAN	Homo sapiens glutamate receptor, metabotropic 3 (GRM3), mRNA.	471					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)	TGTTCAATTTCCAAAATGTAG	0.428000														16			14		0	0	0.002450	0	0
DLGAP1	9229	broad.mit.edu	37	18	3879232	3879233	+	Nonsense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr18:3879232_3879233CC>TT	uc002kmf.3	-	3	1363_1364	c.836_837GG>AA	c.(835-837)tgg>tAA	p.W279*	DLGAP1_uc010wyz.2_Nonsense_Mutation_p.W279*|DLGAP1_uc002kmk.2_Nonsense_Mutation_p.W279*|LOC201477_uc002kml.1_Intron	NM_004746	NP_004737	O14490	DLGP1_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 1 (DLGAP1), transcript variant 1, mRNA.	279					synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				GCGTGGAGGACCAGGCGCTCTT	0.644000														29			16		0	0	0.004672	0	0
MAS1	4142	broad.mit.edu	37	6	160328409	160328409	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:160328409G>A	uc003qsz.3	+	0	436	c.422G>A	c.(421-423)cGa>cAa	p.R141Q		NM_002377	NP_002368	P04201	MAS_HUMAN	Homo sapiens MAS1 oncogene (MAS1), mRNA.	141					anatomical structure morphogenesis|cell proliferation|protein kinase C signaling cascade	integral to plasma membrane	angiotensin type II receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.44e-18)|BRCA - Breast invasive adenocarcinoma(81;5.6e-06)		ATCTGGTACCGATGCCATCGC	0.527000														84			21		0	0	0.002299	0	0
FAM71B	153745	broad.mit.edu	37	5	156589605	156589605	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:156589605C>T	uc003lwn.3	-	1	1771	c.1671G>A	c.(1669-1671)gaG>gaA	p.E557E		NM_130899	NP_570969	Q8TC56	FA71B_HUMAN	Homo sapiens family with sequence similarity 71, member B (FAM71B), mRNA.	557						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)			CGATATCTACCTCTCTGTCAT	0.483000														419			237		0	0	0.003610	0	0
B4GALNT4	338707	broad.mit.edu	37	11	372752	372752	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:372752G>A	uc001lpb.3	+	2	355	c.346G>A	c.(346-348)Gag>Aag	p.E116K		NM_178537	NP_848632	Q76KP1	B4GN4_HUMAN	Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 4 (B4GALNT4), mRNA.	116						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ATGGCGGGAGGAGGTGAGCTG	0.697000														17			8		0	0	0.004482	0	0
SLC9C1	285335	broad.mit.edu	37	3	111923141	111923141	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:111923141T>C	uc003dyu.3	-	16	2318	c.2096A>G	c.(2095-2097)aAg>aGg	p.K699R	SLC9C1_uc011bhu.2_Intron|SLC9C1_uc010hqc.3_Missense_Mutation_p.K651R	NM_183061	NP_898884	Q4G0N8	S9A10_HUMAN	Homo sapiens solute carrier family 9, member 10 (SLC9A10), mRNA.	699					cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity										AAAAATATACTTAATGGTGTC	0.299000														71			34		0	0	0.002836	0	0
KRT32	3882	broad.mit.edu	37	17	39623313	39623313	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:39623313C>T	uc002hwr.3	-	0	326	c.265G>A	c.(265-267)Gaa>Aaa	p.E89K		NM_002278	NP_002269	Q14532	K1H2_HUMAN	Homo sapiens keratin 32 (KRT32), mRNA.	89	Head.				epidermis development	intermediate filament	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(137;0.000812)				AAGGCCCCTTCGCTGTACCAG	0.612000														41			40		0	0	0.006230	0	0
CENPH	64946	broad.mit.edu	37	5	68487676	68487676	+	Splice_Site	SNP	A	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:68487676A>T	uc003jvp.3	+	2	277	c.190_splice	c.e2+1	p.S64_splice	DQ576994_uc003jvn.1_5'Flank|DQ576994_uc003jvo.3_5'Flank|CENPH_uc010ixc.3_Splice_Site_p.S64_splice	NM_022909	NP_075060	Q9H3R5	CENPH_HUMAN	Homo sapiens centromere protein H (CENPH), mRNA.	64					CenH3-containing nucleosome assembly at centromere|cell division|chromosome segregation|kinetochore organization|mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleoplasm	kinetochore binding|protein binding			kidney(15)|large_intestine(2)|lung(3)	20		Lung NSC(167;5.51e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.41e-56)|Epithelial(20;1.29e-52)|all cancers(19;3.15e-48)|Lung(70;0.0178)		TGGTTGATGCAAGTAAGTATT	0.333000														47			20		0	0	0.008871	0	0
DDX23	9416	broad.mit.edu	37	12	49237790	49237790	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:49237790G>A	uc001rsm.3	-	2	344	c.253C>T	c.(253-255)Cgg>Tgg	p.R85W		NM_004818	NP_004809	Q9BUQ8	DDX23_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 23 (DDX23), mRNA.	85	Arg-rich.					U5 snRNP|catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent RNA helicase activity|nucleic acid binding|protein binding	p.R85Q(1)		NS(1)|cervix(1)|kidney(4)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(3)	36						TTCTTATTCCGATCCCGCTCC	0.488000														178			69		0	0	0.003610	0	0
UPF2	26019	broad.mit.edu	37	10	11985081	11985081	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:11985081T>A	uc001ila.3	-	15	3735	c.3261A>T	c.(3259-3261)gaA>gaT	p.E1087D	UPF2_uc001ilb.3_Missense_Mutation_p.E1087D|UPF2_uc001ilc.3_Missense_Mutation_p.E1087D	NM_080599	NP_542166	Q9HAU5	RENT2_HUMAN	Homo sapiens UPF2 regulator of nonsense transcripts homolog (yeast) (UPF2), transcript variant 1, mRNA.	1087	Glu-rich.|Sufficient for interaction with EIF4A1 and EIF1.|Sufficient for interaction with UPF1 C- terminus.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	exon-exon junction complex|perinuclear region of cytoplasm	RNA binding|identical protein binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				CTTCATCGGTTTCATTTTCCT	0.328000														351			143		0	0	0.003610	0	0
POF1B	79983	broad.mit.edu	37	X	84634333	84634333	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chrX:84634333G>A	uc004eer.2	-	1	273	c.127C>T	c.(127-129)Cca>Tca	p.P43S	POF1B_uc004ees.3_Missense_Mutation_p.P43S	NM_024921	NP_079197	Q8WVV4	POF1B_HUMAN	Homo sapiens premature ovarian failure, 1B (POF1B), mRNA.	43							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						TTTTTTTCTGGAGGCTGCTGG	0.577000														2			7		0	0	0.003080	0	0
VWA3B	200403	broad.mit.edu	37	2	98804492	98804492	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:98804492C>T	uc002syo.3	+	9	1630	c.1366C>T	c.(1366-1368)Ccc>Tcc	p.P456S	VWA3B_uc010yvh.2_Missense_Mutation_p.P306S|VWA3B_uc002syj.3_Non-coding_Transcript|VWA3B_uc002syk.1_Intron|VWA3B_uc002syl.1_Intron|VWA3B_uc002sym.3_Missense_Mutation_p.P456S|VWA3B_uc002syn.1_Intron|VWA3B_uc010yvi.1_Missense_Mutation_p.P113S	NM_144992	NP_659429	Q502W6	VWA3B_HUMAN	Homo sapiens von Willebrand factor A domain containing 3B (VWA3B), mRNA.	456										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TGTCCATGCTCCCTGGAAGGA	0.502000														26			13		0	0	0.001855	0	0
ACAN	176	broad.mit.edu	37	15	89382250	89382250	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:89382250G>A	uc010upo.1	+	2	801	c.427G>A	c.(427-429)Gag>Aag	p.E143K	ACAN_uc002bmx.3_Missense_Mutation_p.E143K|ACAN_uc010upp.1_Missense_Mutation_p.E143K|ACAN_uc002bna.2_Non-coding_Transcript	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA.	143					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)			CGAGGACAGCGAGGCCACCCT	0.622000														46			26		0	0	0.007291	0	0
ZNF205	7755	broad.mit.edu	37	16	3170236	3170236	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:3170236C>T	uc002cub.3	+	6	1710	c.1575C>T	c.(1573-1575)atC>atT	p.I525I	ZNF205_uc002cua.3_Silent_p.I525I	NM_001042428	NP_003447	O95201	ZN205_HUMAN	Homo sapiens zinc finger protein 205 (ZNF205), transcript variant 2, mRNA.	525					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	20						ACGAGAAGATCCACACCACCG	0.736000														11			11		0	0	0.008291	0	0
FAM135B	51059	broad.mit.edu	37	8	139149481	139149481	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:139149481G>A	uc003yuy.3	-	18	4095	c.3924C>T	c.(3922-3924)gtC>gtT	p.V1308V	FAM135B_uc003yux.3_Silent_p.V1209V|FAM135B_uc003yuz.3_Non-coding_Transcript	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA.	1308								p.V1308I(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)			CAACCAGCACGACGTTTTTAA	0.423000										HNSCC(54;0.14)				73			36		0	0	0.006230	0	0
INTS8	55656	broad.mit.edu	37	8	95848801	95848801	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:95848801C>T	uc003yhb.3	+	6	929	c.803C>T	c.(802-804)tCa>tTa	p.S268L	INTS8_uc003yha.1_Missense_Mutation_p.S268L|INTS8_uc011lgq.2_Non-coding_Transcript|INTS8_uc011lgr.2_Non-coding_Transcript|INTS8_uc010mba.3_Missense_Mutation_p.S95L	NM_017864	NP_060334	Q75QN2	INT8_HUMAN	Homo sapiens integrator complex subunit 8 (INTS8), mRNA.	268					snRNA processing	integrator complex	protein binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	28	Breast(36;1.05e-06)					TCCACAAATTCAGCTGTCTAT	0.358000														247			105		0	0	0.003610	0	0
FBN3	84467	broad.mit.edu	37	19	8131010	8131010	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:8131010G>A	uc002mjf.3	-	62	8240	c.8223C>T	c.(8221-8223)atC>atT	p.I2741I	FBN3_uc002mje.3_Silent_p.I537I	NM_032447	NP_115823	Q75N90	FBN3_HUMAN	Homo sapiens fibrillin 3 (FBN3), mRNA.	2741						proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						TTCCGCGGACGATGACGTAGC	0.687000														44			20		0	0	0.001523	0	0
ACSM2A	123876	broad.mit.edu	37	16	20491931	20491931	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:20491931G>A	uc010bwe.3	+	11	1557	c.1318G>A	c.(1318-1320)Gac>Aac	p.D440N	ACSM2A_uc010vax.1_Missense_Mutation_p.D361N|ACSM2A_uc002dhf.4_Missense_Mutation_p.D440N|ACSM2A_uc002dhg.4_Missense_Mutation_p.D440N|ACSM2A_uc010vay.2_Missense_Mutation_p.D361N|ACSM2A_uc002dhh.4_Missense_Mutation_p.D70N	NM_001010845	NP_001010845	Q08AH3	ACS2A_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 2A (ACSM2A), nuclear gene encoding mitochondrial protein, mRNA.	440					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						CATTCGAGGAGACTTTTGGCT	0.512000														98			22		0	0	0.005443	0	0
MAP1A	4130	broad.mit.edu	37	15	43819762	43819763	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:43819762_43819763CC>TT	uc001zrt.3	+	3	6558_6559	c.6091_6092CC>TT	c.(6091-6093)cca>TTa	p.P2031L		NM_002373	NP_002364	P78559	MAP1A_HUMAN	Homo sapiens microtubule-associated protein 1A (MAP1A), mRNA.	2031						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	GTCTGACACTCCAACCTTCAGC	0.609000														45			6		0	0	0.004672	0	0
SLC44A4	80736	broad.mit.edu	37	6	31838769	31838770	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:31838769_31838770CC>TT	uc010jti.3	-	9	822_823	c.756_757GG>AA	c.(754-759)ctggtg>ctAAtg	p.V253M	SLC44A4_uc011dol.2_Missense_Mutation_p.V177M|SLC44A4_uc011dom.2_Missense_Mutation_p.V211M	NM_025257	NP_079533	Q53GD3	CTL4_HUMAN	Homo sapiens solute carrier family 44, member 4 (SLC44A4), transcript variant 1, mRNA.	253						integral to membrane|plasma membrane	choline transmembrane transporter activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(1)|urinary_tract(2)	35					Choline(DB00122)	GGCCCAGCCACCAGGCGCAGAA	0.614000														74			34		0	0	0.004672	0	0
MMP12	4321	broad.mit.edu	37	11	102743711	102743711	+	Silent	SNP	T	C	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:102743711T>C	uc001phk.3	-	1	331	c.234A>G	c.(232-234)caA>caG	p.Q78Q		NM_002426	NP_002417	P39900	MMP12_HUMAN	Homo sapiens matrix metallopeptidase 12 (macrophage elastase) (MMP12), mRNA.	78					positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)	ATGTGTCCAGTTGCCCGGTCA	0.468000														21			11		0	0	0.001855	0	0
XIRP2	129446	broad.mit.edu	37	2	168104646	168104646	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:168104646G>A	uc002udx.3	+	8	6833	c.6744G>A	c.(6742-6744)ttG>ttA	p.L2248L	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Silent_p.L2073L|XIRP2_uc010fpq.3_Silent_p.L2026L|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	2073					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						ATGTTCACTTGAAAAGCCAGG	0.368000														31			10		0	0	0.008291	0	0
TSHZ2	128553	broad.mit.edu	37	20	51872600	51872600	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr20:51872600C>T	uc002xwo.3	+	1	3490	c.2603C>T	c.(2602-2604)tCa>tTa	p.S868L	TSHZ2_uc021wex.1_Missense_Mutation_p.S865L	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	Homo sapiens teashirt zinc finger homeobox 2 (TSHZ2), transcript variant 1, mRNA.	868					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			TTCCAGACATCAGAGGGCAAA	0.498000														56			24		0	0	0.006320	0	0
XKR4	114786	broad.mit.edu	37	8	56436118	56436118	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:56436118G>A	uc003xsf.3	+	2	1317	c.1285G>A	c.(1285-1287)Gaa>Aaa	p.E429K		NM_052898	NP_443130	Q5GH76	XKR4_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 4 (XKR4), mRNA.	429						integral to membrane				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			CACCAAATGGGAAGAGATTGT	0.448000														115			47		0	0	0.003610	0	0
CSMD1	64478	broad.mit.edu	37	8	2857480	2857480	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:2857480G>A	uc022aqr.1	-	53	8593	c.8203_splice	c.e53+1	p.P2735_splice	CSMD1_uc011kwj.2_Splice_Site_p.P2065_splice|CSMD1_uc010lrg.3_Splice_Site_p.P746_splice	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	2736	Sushi 18.					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)		GTGCACTTACGGACACAGACA	0.458000														97			43		0	0	0.003610	0	0
ACTR5	79913	broad.mit.edu	37	20	37384523	37384523	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr20:37384523G>A	uc002xjd.2	+	4	1042	c.1017G>A	c.(1015-1017)atG>atA	p.M339I		NM_024855	NP_079131	Q9H9F9	ARP5_HUMAN	Homo sapiens ARP5 actin-related protein 5 homolog (yeast) (ACTR5), mRNA.	339					DNA recombination|UV-damage excision repair|double-strand break repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex|cytoplasm	ATP binding|protein binding			kidney(2)|large_intestine(2)|liver(1)|lung(5)|skin(2)	12		Myeloproliferative disorder(115;0.00878)				ATGGCCAGATGGATCAGTTTC	0.488000														102			66		0	0	0.003610	0	0
RGPD4	285190	broad.mit.edu	37	2	108488207	108488207	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:108488207G>A	uc010ywk.2	+	19	3829	c.3747G>A	c.(3745-3747)tgG>tgA	p.W1249*	RGPD4_uc002tdu.3_Nonsense_Mutation_p.W436*|RGPD4_uc010ywl.2_Intron	NM_182588	NP_872394	Q7Z3J3	RGPD4_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 4 (RGPD4), mRNA.	1249					intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						CATTAGAATGGGATAACTGTG	0.443000														199			85		0	0	0.003610	0	0
ZNF354A	6940	broad.mit.edu	37	5	178140387	178140387	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:178140387C>T	uc003mjj.3	-	4	690	c.492G>A	c.(490-492)ttG>ttA	p.L164L		NM_005649	NP_005640	O60765	Z354A_HUMAN	Homo sapiens zinc finger protein 354A (ZNF354A), mRNA.	164					regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(7)|lung(3)|ovary(2)|skin(2)|stomach(2)	19	all_cancers(89;0.000536)|Renal(175;0.000159)|all_epithelial(37;0.000221)|Lung NSC(126;0.00308)|all_lung(126;0.00536)	all_cancers(40;0.0452)|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;0.185)		AGTTTTGGCTCAATTCAGTAT	0.378000														174			65		0	0	0.003610	0	0
KSR2	283455	broad.mit.edu	37	12	118199236	118199236	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:118199236G>A	uc001two.2	-	3	534	c.479C>T	c.(478-480)cCg>cTg	p.P160L		NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN	Homo sapiens kinase suppressor of ras 2 (KSR2), mRNA.	189					intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity	p.P221L(2)|p.C160C(1)		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)					GCGGATCCACGGGGTGGGCTC	0.637000														33			20		0	0	0.008871	0	0
PTPRC	5788	broad.mit.edu	37	1	198676022	198676022	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:198676022C>T	uc001gur.1	+	8	1019	c.839C>T	c.(838-840)tCc>tTc	p.S280F	PTPRC_uc001gut.1_Missense_Mutation_p.S119F|PTPRC_uc009wzf.1_Missense_Mutation_p.S168F|PTPRC_uc021pgy.1_Missense_Mutation_p.S234F|PTPRC_uc010ppg.1_Missense_Mutation_p.S216F	NM_002838	NP_002829	P08575	PTPRC_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, C (PTPRC), transcript variant 1, mRNA.	280					B cell proliferation|B cell receptor signaling pathway|T cell differentiation|T cell receptor signaling pathway|axon guidance|defense response to virus|immunoglobulin biosynthetic process|negative regulation of T cell mediated cytotoxicity|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|positive regulation of B cell proliferation|positive regulation of T cell proliferation|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of protein kinase activity|regulation of S phase|release of sequestered calcium ion into cytosol	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						GCGTCTGTTTCCATATCTCAT	0.303000														91			57		0	0	0.003610	0	0
KCNJ1	3758	broad.mit.edu	37	11	128709860	128709860	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:128709860G>A	uc001qeo.1	-	1	387	c.336C>T	c.(334-336)ttC>ttT	p.F112F	KCNJ1_uc001qep.1_Silent_p.F93F|KCNJ1_uc001qeq.1_Silent_p.F93F|KCNJ1_uc001qer.1_Silent_p.F93F|KCNJ1_uc001qes.1_Silent_p.F93F|KCNJ1_uc021qsb.1_Silent_p.F93F	NM_000220	NP_000211	P48048	IRK1_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 1 (KCNJ1), transcript variant rom-k1, mRNA.	112					excretion	voltage-gated potassium channel complex	ATP binding|inward rectifier potassium channel activity			breast(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)	23	all_hematologic(175;0.0641)	all_lung(97;4.89e-06)|Lung NSC(97;9.34e-06)|Breast(109;0.00123)|all_hematologic(192;0.00793)|Renal(330;0.0112)|all_neural(223;0.0189)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;4.05e-06)|LUSC - Lung squamous cell carcinoma(976;0.008)|Lung(977;0.00942)	Acetohexamide(DB00414)|Chlorpropamide(DB00672)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glycodiazine(DB01382)|Minoxidil(DB00350)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolazamide(DB00839)|Tolbutamide(DB01124)	CAGAAGGATGGAATTCCGGGA	0.443000														34			17		0	0	0.004007	0	0
ZFHX4	79776	broad.mit.edu	37	8	77617513	77617513	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:77617513G>A	uc003yau.2	+	1	1577	c.1190G>A	c.(1189-1191)gGg>gAg	p.G397E	ZFHX4_uc003yat.1_Missense_Mutation_p.G397E|ZFHX4_uc003yaw.1_Missense_Mutation_p.G397E	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	397						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CAGCCGCTGGGGATTACCCAA	0.527000										HNSCC(33;0.089)				21			9		0	0	0.004482	0	0
BARHL2	343472	broad.mit.edu	37	1	91182155	91182155	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:91182155C>T	uc001dns.3	-	0	640	c.598G>A	c.(598-600)Gat>Aat	p.D200N		NM_020063	NP_064447	Q9NY43	BARH2_HUMAN	Homo sapiens BarH-like homeobox 2 (BARHL2), mRNA.	200						nucleus	sequence-specific DNA binding			cervix(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_lung(203;0.0263)|Lung SC(238;0.128)		all cancers(265;0.000897)|Epithelial(280;0.00516)|OV - Ovarian serous cystadenocarcinoma(397;0.211)		CTCTGGGAATCCTCCCGCTTG	0.612000														42			27		0	0	0.002096	0	0
RIPK3	11035	broad.mit.edu	37	14	24808666	24808666	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:24808666T>C	uc001wpb.3	-	1	368	c.158A>G	c.(157-159)aAc>aGc	p.N53S	RIPK3_uc001wpa.3_5'Flank|RIPK3_uc010alq.3_Non-coding_Transcript|RIPK3_uc010toi.2_5'UTR|RIPK3_uc010toj.1_Missense_Mutation_p.N53S	NM_006871	NP_006862	Q9Y572	RIPK3_HUMAN	Homo sapiens receptor-interacting serine-threonine kinase 3 (RIPK3), mRNA.	53	Protein kinase.				apoptosis|induction of apoptosis by extracellular signals	cytoplasm	ATP binding|protein binding|transcription coactivator activity			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				GBM - Glioblastoma multiforme(265;0.0181)		CACTCACGAGTTTACGATCTT	0.597000														76			41		0	0	0.002522	0	0
HNRNPA3	220988	broad.mit.edu	37	2	178081271	178081271	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:178081271G>A	uc002ulb.1	+	4	700	c.594G>A	c.(592-594)gtG>gtA	p.V198V	HNRNPA3_uc002ulc.1_Silent_p.V198V|HNRNPA3_uc002uld.2_Silent_p.V176V|HNRNPA3_uc002ule.3_5'Flank	NM_194247	NP_919223	P51991	ROA3_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein A3 (HNRNPA3), mRNA.	198	RRM 2.					catalytic step 2 spliceosome|nucleolus|nucleoplasm	RNA binding|nucleotide binding|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|urinary_tract(1)	16						ATTGTGAAGTGAAAAAGGCCC	0.343000														64			26		0	0	0.001786	0	0
NLRP13	126204	broad.mit.edu	37	19	56424463	56424463	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:56424463C>T	uc010ygg.2	-	4	745	c.720G>A	c.(718-720)ggG>ggA	p.G240G		NM_176810	NP_789780	Q86W25	NAL13_HUMAN	Homo sapiens NLR family, pyrin domain containing 13 (NLRP13), mRNA.	240	NACHT.						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)		AGGTGGTCTTCCCAACCCCTG	0.507000														82			20		0	0	0.002299	0	0
MAGI1	9223	broad.mit.edu	37	3	65479241	65479241	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:65479241C>T	uc003dmn.3	-	2	1022	c.496G>A	c.(496-498)Gag>Aag	p.E166K	MAGI1_uc003dmm.3_Missense_Mutation_p.E166K|MAGI1_uc003dmo.3_Missense_Mutation_p.E166K|MAGI1_uc003dmp.3_Missense_Mutation_p.E166K|MAGI1_uc010hny.2_Missense_Mutation_p.E50K|MAGI1_uc021xac.1_Missense_Mutation_p.E166K|MAGI1_uc003dmr.3_Missense_Mutation_p.E166K	NM_001033057	NP_001028229	Q96QZ7	MAGI1_HUMAN	Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 1 (MAGI1), transcript variant 3, mRNA.	166	Guanylate kinase-like.				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		TCCAAGAACTCCTTCACAGTC	0.488000														25			43		0	0	0.003610	0	0
GRIN3B	116444	broad.mit.edu	37	19	1005535	1005535	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:1005535G>A	uc002lqo.1	+	2	2035	c.2035G>A	c.(2035-2037)Ggg>Agg	p.G679R		NM_138690	NP_619635	O60391	NMD3B_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl-D-aspartate 3B (GRIN3B), mRNA.	679					ionotropic glutamate receptor signaling pathway|protein insertion into membrane|regulation of calcium ion transport	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|ionotropic glutamate receptor activity|neurotransmitter receptor activity			breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)		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)	Glycine(DB00145)|L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)	GGAGCTGTCGGGGATCCACGA	0.697000														8			3		0	0	0.004672	0	0
SYT3	84258	broad.mit.edu	37	19	51135610	51135610	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:51135610G>A	uc002pst.3	-	1	1241	c.607C>T	c.(607-609)Ccc>Tcc	p.P203S	SYT3_uc002psv.3_Missense_Mutation_p.P203S|SYT3_uc010ycd.2_Missense_Mutation_p.P203S	NM_032298	NP_115674	Q9BQG1	SYT3_HUMAN	Homo sapiens synaptotagmin III (SYT3), transcript variant 1, mRNA.	203						cell junction|endosome|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2)	35		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)		CCACCACTGGGGGGCAGCAGG	0.652000														35			7		0	0	0.001984	0	0
PCLO	27445	broad.mit.edu	37	7	82595441	82595441	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:82595441G>A	uc003uhx.2	-	3	3952	c.3663C>T	c.(3661-3663)atC>atT	p.I1221I	PCLO_uc003uhv.2_Silent_p.I1221I	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	1160					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CTTCTTCAGGGATTAGTTTTT	0.378000														156			54		0	0	0.003610	0	0
RORC	6097	broad.mit.edu	37	1	151804237	151804237	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:151804237C>T	uc001ezh.3	-	0	112	c.4G>A	c.(4-6)Gac>Aac	p.D2N	RORC_uc010pdo.2_5'UTR|RORC_uc010pdp.2_Missense_Mutation_p.D2N	NM_005060	NP_005051	P51449	RORG_HUMAN	Homo sapiens RAR-related orphan receptor C (RORC), transcript variant 1, mRNA.	2	Modulating (Potential).				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			GGGGCCCTGTCCATGGGGCAG	0.697000														54			24		0	0	0.006320	0	0
IFT172	26160	broad.mit.edu	37	2	27676933	27676933	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:27676933C>T	uc002rku.3	-	32	3678	c.3627G>A	c.(3625-3627)ggG>ggA	p.G1209G	IFT172_uc010ezb.3_Non-coding_Transcript	NM_015662	NP_056477	Q9UG01	IF172_HUMAN	Homo sapiens intraflagellar transport 172 homolog (Chlamydomonas) (IFT172), mRNA.	1209					cilium assembly	cilium	binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					CCTCCAAGGCCCCCCGGGCCT	0.612000														58			24		0	0	0.002299	0	0
SYT7	9066	broad.mit.edu	37	11	61291412	61291412	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:61291412C>T	uc001nrv.3	-	7	845	c.793_splice	c.e7-1	p.G265_splice	SYT7_uc009ynr.3_Splice_Site_p.G340_splice	NM_004200	NP_004191	O43581	SYT7_HUMAN	Homo sapiens synaptotagmin VII (SYT7), transcript variant 2, mRNA.	265						cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			kidney(2)|large_intestine(3)|lung(4)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						CCCTCGGCTCCCCTGGGAGGC	0.592000														66			40		0	0	0.006999	0	0
USF1	7391	broad.mit.edu	37	1	161012647	161012647	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:161012647C>T	uc001fxi.3	-	2	229	c.34G>A	c.(34-36)Gag>Aag	p.E12K	USF1_uc001fxj.3_5'UTR	NM_007122	NP_996888	P22415	USF1_HUMAN	Homo sapiens upstream transcription factor 1 (USF1), transcript variant 1, mRNA.	12					cellular response to insulin stimulus|glucose homeostasis|late viral mRNA transcription|lipid homeostasis|positive regulation of transcription from RNA polymerase II promoter by glucose|response to UV|response to hypoxia	transcription factor complex	bHLH transcription factor binding|histone deacetylase binding|protein heterodimerization activity|protein homodimerization activity|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			central_nervous_system(1)|large_intestine(3)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9	all_cancers(52;6.73e-18)|Breast(13;0.012)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			ACTGTCCCCTCTTCCGTTTCA	0.488000														73			41		0	0	0.003214	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140307828	140307828	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:140307828G>A	uc003lih.2	+	0	1527	c.1351G>A	c.(1351-1353)Gaa>Aaa	p.E451K	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lif.2_Intron|PCDHAC2_uc003lie.1_Intron|PCDHAC2_uc003lig.1_Missense_Mutation_p.E451K	NM_018898	NP_061721	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha subfamily C, 1 (PCDHAC1), transcript variant 1, mRNA.	475	Cadherin 4.				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)			ACCCCAGCAGGAACTTTTCGT	0.527000														69			19		0	0	0.008871	0	0
CAGE1	285782	broad.mit.edu	37	6	7378996	7378996	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:7378996C>T	uc003mxl.2	-	3	1072	c.541G>A	c.(541-543)Gag>Aag	p.E181K	CAGE1_uc021ylc.1_Missense_Mutation_p.E45K|CAGE1_uc003mxj.3_5'UTR|CAGE1_uc003mxk.2_Missense_Mutation_p.E181K	NM_001170692	NP_001164163	Q8TC20	CAGE1_HUMAN	Homo sapiens cancer antigen 1 (CAGE1), transcript variant 1, mRNA.	181										breast(1)|cervix(1)|endometrium(3)|kidney(2)|lung(11)|urinary_tract(1)	19	Ovarian(93;0.0418)					CTAAAATACTCGTTACCAAGT	0.383000														46			14		0	0	0.004007	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144923702	144923702	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:144923702C>T	uc021ouh.1	-	5	1058	c.756G>A	c.(754-756)gaG>gaA	p.E252E	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron|PDE4DIP_uc001elw.4_Silent_p.E252E|PDE4DIP_uc001elx.4_Silent_p.E318E|PDE4DIP_uc001emd.2_Silent_p.E252E|PDE4DIP_uc001emc.2_Silent_p.E252E|PDE4DIP_uc001emb.1_Silent_p.E415E|PDE4DIP_uc001eme.1_5'Flank	NM_001198834	NP_001185763	Q5VU43	MYOME_HUMAN	Homo sapiens phosphodiesterase 4D interacting protein (PDE4DIP), transcript variant 9, mRNA.	252					cellular protein complex assembly	Golgi apparatus|centrosome|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TGTTGGTGGCCTCTGTTTGCT	0.448000			T	PDGFRB	MPD									190			35		0	0	0.004878	0	0
SPTBN4	57731	broad.mit.edu	37	19	41012161	41012161	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:41012161G>A	uc002ony.3	+	12	1770	c.1684G>A	c.(1684-1686)Gag>Aag	p.E562K	SPTBN4_uc002onx.3_Missense_Mutation_p.E562K|SPTBN4_uc002onz.3_Missense_Mutation_p.E562K	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 4 (SPTBN4), transcript variant sigma1, mRNA.	562					actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	PML body|cytosol|nuclear matrix|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GCTGTCCCGGGAGTGTGGGCA	0.647000														53			28		0	0	0.005443	0	0
HEPH	9843	broad.mit.edu	37	X	65479985	65479985	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chrX:65479985G>A	uc011moz.2	+	18	3379	c.3242G>A	c.(3241-3243)gGg>gAg	p.G1081E	HEPH_uc004dwn.3_Missense_Mutation_p.G1030E|HEPH_uc004dwo.3_Missense_Mutation_p.G760E|HEPH_uc010nkr.3_Missense_Mutation_p.G838E|HEPH_uc011mpa.2_Missense_Mutation_p.G1030E	NM_138737	NP_055614	Q9BQS7	HEPH_HUMAN	Homo sapiens hephaestin (HEPH), transcript variant 1, mRNA.	1027	Plastocyanin-like 6.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						CTGTTCCCAGGGACTTTTGAG	0.522000														10			22		0	0	0.002780	0	0
TTN	7273	broad.mit.edu	37	2	179636057	179636057	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:179636057C>T	uc021vsy.1	-	33	8222	c.7997G>A	c.(7996-7998)aGa>aAa	p.R2666K	TTN_uc021vsz.1_Missense_Mutation_p.R2620K|TTN_uc021vta.1_Missense_Mutation_p.R2620K|TTN_uc021vtb.1_Missense_Mutation_p.R2620K|TTN_uc002unb.2_Missense_Mutation_p.R2666K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	2666	Ig-like 15.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R2620K(2)|p.R2666K(2)		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)			AGACTCACTTCTGATGTTGTT	0.453000														43			19		0	0	0.001523	0	0
DESI2	51029	broad.mit.edu	37	1	244852555	244852555	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:244852555T>A	uc001iao.3	+	2	384	c.120T>A	c.(118-120)ttT>ttA	p.F40L	DESI2_uc001iap.3_Intron	NM_016076	NP_057160	Q9BSY9	PPDE1_HUMAN	Homo sapiens PPPDE peptidase domain containing 1 (PPPDE1), mRNA.	40	PPPDE peptidase.																TTTCAGAATTTGCTTATGGTG	0.328000														118			33		0	0	0.006230	0	0
MARCH10	162333	broad.mit.edu	37	17	60814024	60814024	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:60814024G>A	uc010dds.3	-	6	1604	c.1319C>T	c.(1318-1320)tCg>tTg	p.S440L	MARCH10_uc010ddr.3_Missense_Mutation_p.S402L|MARCH10_uc002jag.4_Missense_Mutation_p.S402L|MARCH10_uc002jah.2_Missense_Mutation_p.S401L|BC037347_uc002jaj.1_Non-coding_Transcript|BC037347_uc002jak.3_Non-coding_Transcript	NM_152598	NP_689811	Q8NA82	MARHA_HUMAN	Homo sapiens membrane-associated ring finger (C3HC4) 10 (MARCH10), transcript variant 1, mRNA.	402							ligase activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						GGTGTCCCACGAAAGAGGGCT	0.512000														38			30		0	0	0.002096	0	0
VDR	7421	broad.mit.edu	37	12	48250947	48250947	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:48250947G>A	uc001rql.3	-	5	1099	c.698C>T	c.(697-699)tCc>tTc	p.S233F	VDR_uc001rqm.3_Missense_Mutation_p.S183F|VDR_uc001rqn.3_Missense_Mutation_p.S183F|VDR_uc010slq.2_Missense_Mutation_p.S151F	NM_001017536	NP_001017536	P11473	VDR_HUMAN	Homo sapiens vitamin D (1,25- dihydroxyvitamin D3) receptor (VDR), transcript variant 3, mRNA.	183	Ligand-binding.|Vitamin D3 binding.				decidualization|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of vitamin D 24-hydroxylase activity|regulation of calcidiol 1-monooxygenase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid X receptor binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|vitamin D3 receptor activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(3)|skin(2)	22		Acute lymphoblastic leukemia(13;0.109)|all_hematologic(14;0.214)		GBM - Glioblastoma multiforme(48;0.17)	Calcidiol(DB00146)|Calcipotriol(DB02300)|Calcitriol(DB00136)|Dihydrotachysterol(DB01070)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	GCAGGAGGAGGAGGAGTCCCC	0.582000														14			10		0	0	0.006214	0	0
NYNRIN	57523	broad.mit.edu	37	14	24877642	24877642	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:24877642G>A	uc001wpf.4	+	2	1084	c.766G>A	c.(766-768)Gaa>Aaa	p.E256K		NM_025081	NP_079357	Q9P2P1	NYNRI_HUMAN	Homo sapiens NYN domain and retroviral integrase containing (NYNRIN), mRNA.	256					DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						CAGGGGCCCAGAAAATTCAAA	0.592000														34			13		0	0	0.004007	0	0
STAB1	23166	broad.mit.edu	37	3	52538152	52538152	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:52538152G>A	uc003dej.3	+	9	1205	c.1131G>A	c.(1129-1131)agG>agA	p.R377R	STAB1_uc003dei.1_Silent_p.R377R	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	Homo sapiens stabilin 1 (STAB1), mRNA.	377	FAS1 1.				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)		TGCAGCTGAGGGTCGCCGTGG	0.682000														2			6		0	0	0.003080	0	0
GUCY1A3	2982	broad.mit.edu	37	4	156651206	156651206	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:156651206C>T	uc003iov.3	+	10	2432	c.1896C>T	c.(1894-1896)ttC>ttT	p.F632F	GUCY1A3_uc010iqd.3_Silent_p.F631F|GUCY1A3_uc003iow.3_Silent_p.F632F|GUCY1A3_uc003iox.3_Silent_p.F632F|GUCY1A3_uc010iqe.3_Silent_p.F397F|GUCY1A3_uc003ioy.3_Silent_p.F632F|GUCY1A3_uc003ioz.3_Silent_p.F397F|GUCY1A3_uc003ipa.3_Non-coding_Transcript|GUCY1A3_uc003ipb.3_Silent_p.F632F	NM_000856	NP_001124157	Q02108	GCYA3_HUMAN	Homo sapiens guanylate cyclase 1, soluble, alpha 3 (GUCY1A3), transcript variant 1, mRNA.	632					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)		GTCCTGGTTTCGTGTTTACCC	0.378000														49			11		0	0	0.008291	0	0
SLC26A5	375611	broad.mit.edu	37	7	103033461	103033461	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:103033461C>T	uc003vbz.3	-	9	1286	c.1024G>A	c.(1024-1026)Gat>Aat	p.D342N	SLC26A5_uc003vbt.2_Missense_Mutation_p.D342N|SLC26A5_uc003vbu.2_Missense_Mutation_p.D342N|SLC26A5_uc003vbv.2_Intron|SLC26A5_uc003vbw.3_Intron|SLC26A5_uc003vby.3_Non-coding_Transcript|SLC26A5_uc010liy.3_Non-coding_Transcript|SLC26A5_uc003vbx.3_Missense_Mutation_p.D342N	NM_198999	NP_945350	P58743	S26A5_HUMAN	Homo sapiens solute carrier family 26, member 5 (prestin) (SLC26A5), transcript variant a, mRNA.	342					regulation of cell shape|sensory perception of sound	integral to membrane	secondary active sulfate transmembrane transporter activity			endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						GCAATGGCATCTACGTACACA	0.483000														37			19		0	0	0.006122	0	0
GOLGA1	2800	broad.mit.edu	37	9	127651725	127651725	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:127651725G>A	uc004bpc.3	-	16	1930	c.1588C>T	c.(1588-1590)Cag>Tag	p.Q530*	GOLGA1_uc010mws.3_Non-coding_Transcript	NM_002077	NP_002068	Q92805	GOGA1_HUMAN	Homo sapiens golgin A1 (GOLGA1), mRNA.	530	Gln-rich.					Golgi cisterna membrane				NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	20						CGCTCCAGCTGGAGAATCTCC	0.552000														103			38		0	0	0.007835	0	0
ZNF470	388566	broad.mit.edu	37	19	57089348	57089348	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:57089348C>T	uc002qnl.4	+	5	2227	c.1551C>T	c.(1549-1551)acC>acT	p.T517T	ZNF470_uc010etn.3_Intron	NM_001001668	NP_001001668	Q6ECI4	ZN470_HUMAN	Homo sapiens zinc finger protein 470 (ZNF470), mRNA.	517					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)		GCAGCAAAACCTTCAGCCAGA	0.453000														26			12		0	0	0.001855	0	0
DNAJC10	54431	broad.mit.edu	37	2	183640123	183640123	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:183640123C>T	uc002uow.1	+	22	2761	c.2346C>T	c.(2344-2346)ctC>ctT	p.L782L	DNAJC10_uc002uox.1_Non-coding_Transcript|DNAJC10_uc002uoy.1_Non-coding_Transcript|DNAJC10_uc002uoz.1_Silent_p.L736L|DNAJC10_uc010fro.1_Non-coding_Transcript	NM_018981	NP_061854	Q8IXB1	DJC10_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 10 (DNAJC10), mRNA.	782					ER-associated protein catabolic process|apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|glycerol ether metabolic process|negative regulation of protein phosphorylation|protein folding|response to endoplasmic reticulum stress	endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|extracellular region	ATPase activator activity|ATPase binding|chaperone binding|electron carrier activity|heat shock protein binding|misfolded protein binding|protein disulfide oxidoreductase activity|unfolded protein binding			breast(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(15)|ovary(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			TGGAAACTCTCCGAAATCAAG	0.338000														28			5		0	0	0.001168	0	0
HEATR5B	54497	broad.mit.edu	37	2	37215935	37215935	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:37215935G>A	uc002rpp.1	-	34	5861	c.5765C>T	c.(5764-5766)cCt>cTt	p.P1922L	HEATR5B_uc010ezy.1_Missense_Mutation_p.P417L	NM_019024	NP_061897	Q9P2D3	HTR5B_HUMAN	Homo sapiens HEAT repeat containing 5B (HEATR5B), mRNA.	1922							binding	p.P1922R(2)		breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				ATGAATATAAGGAGTTGAAAG	0.383000														58			24		0	0	0.005443	0	0
DNM1	1759	broad.mit.edu	37	9	130985128	130985128	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:130985128C>T	uc022bob.1	+	8	1272	c.1185C>T	c.(1183-1185)atC>atT	p.I395I	DNM1_uc022bnx.1_Silent_p.I395I|DNM1_uc022bny.1_Silent_p.I395I|DNM1_uc022bnz.1_Silent_p.I395I|DNM1_uc022boa.1_Silent_p.I395I	NM_004408	NP_004399	Q05193	DYN1_HUMAN	Homo sapiens dynamin 1 (DNM1), transcript variant 1, mRNA.	395					receptor-mediated endocytosis	microtubule	GTP binding|GTPase activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(15)|lung(6)|ovary(2)|urinary_tract(2)	32						TCAAGAATATCCATGGCATTA	0.542000														53			30		0	0	0.002836	0	0
PLXNB2	23654	broad.mit.edu	37	22	50720694	50720694	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr22:50720694C>T	uc003bkv.4	-	18	3129	c.3036G>A	c.(3034-3036)caG>caA	p.Q1012Q	PLXNB2_uc003bkt.1_5'Flank|PLXNB2_uc003bku.1_5'UTR	NM_012401	NP_036533	O15031	PLXB2_HUMAN	Homo sapiens plexin B2 (PLXNB2), mRNA.	1012	IPT/TIG 3.				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity	p.P1012S(1)		breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		TGGCAAACCTCTGGATCAGGC	0.682000														29			18		0	0	0.001523	0	0
ABCB11	8647	broad.mit.edu	37	2	169828372	169828372	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:169828372G>A	uc002ueo.1	-	13	1749	c.1623C>T	c.(1621-1623)atC>atT	p.I541I	ABCB11_uc010zda.1_5'UTR|ABCB11_uc010zdb.1_Silent_p.I17I	NM_003742	NP_003733	O95342	ABCBB_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 11 (ABCB11), mRNA.	541	ABC transporter 1.				bile acid biosynthetic process	Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	GCAGGTCCATGATGAAGTTGT	0.438000														79			19		0	0	0.008871	0	0
MORC2	22880	broad.mit.edu	37	22	31328619	31328619	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr22:31328619G>A	uc003aje.1	-	23	3838	c.2474C>T	c.(2473-2475)tCc>tTc	p.S825F		NM_014941	NP_055756	Q9Y6X9	MORC2_HUMAN	Homo sapiens MORC family CW-type zinc finger 2 (MORC2), mRNA.	887							ATP binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	21						TTCGGAAGTGGAGGGCTCTGC	0.607000														26			20		0	0	0.001882	0	0
SBDSP1	155370	broad.mit.edu	37	7	72307289	72307289	+	RNA	SNP	A	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:72307289A>T	uc003twg.3	+	4		c.1029A>T			SBDSP1_uc003twh.3_Non-coding_Transcript					Homo sapiens Shwachman-Bodian-Diamond syndrome pseudogene 1 (SBDSP1), transcript variant 1, non-coding RNA.																		AATGACACCCATCAGTCTCTT	0.363000														33			10		0	0	0.008291	0	0
MRPL11	65003	broad.mit.edu	37	11	66206157	66206157	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:66206157G>A	uc001ohz.4	-	0	154	c.69C>T	c.(67-69)atC>atT	p.I23I	MRPL11_uc001ohy.4_Silent_p.I23I|MRPL11_uc001oia.4_Intron	NM_016050	NP_057134	Q9Y3B7	RM11_HUMAN	Homo sapiens mitochondrial ribosomal protein L11 (MRPL11), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	23					translation		structural constituent of ribosome			endometrium(3)|lung(2)|ovary(1)|prostate(1)	7						CTGCCCGCACGATCGCCCGGA	0.711000														21			10		0	0	0.008291	0	0
ITGAD	3681	broad.mit.edu	37	16	31424472	31424472	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:31424472C>T	uc010cap.1	+	15	1953	c.1904C>T	c.(1903-1905)gCt>gTt	p.A635V	ITGAD_uc002ebv.1_Missense_Mutation_p.A634V	NM_005353	NP_005344	Q13349	ITAD_HUMAN	Homo sapiens integrin, alpha D (ITGAD), mRNA.	634					cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity	p.A634V(2)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GTGGCCAAGGCTGTGTACCGG	0.612000														56			19		0	0	0.007413	0	0
STK36	27148	broad.mit.edu	37	2	219561253	219561253	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:219561253C>T	uc002viu.3	+	21	2794	c.2515C>T	c.(2515-2517)Cgg>Tgg	p.R839W	STK36_uc002viv.3_Intron|STK36_uc002vix.3_5'UTR	NM_015690	NP_056505	Q9NRP7	STK36_HUMAN	Homo sapiens serine/threonine kinase 36 (STK36), transcript variant 1, mRNA.	839			R -> Q (in dbSNP:rs13023540).		cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development	aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus	ATP binding|protein serine/threonine kinase activity|transcription factor binding			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	52		Renal(207;0.0915)		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)		CTGACAGGTTCGGTTGACTCC	0.502000														72			29		0	0	0.008361	0	0
TMCC3	57458	broad.mit.edu	37	12	94975716	94975716	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:94975716G>A	uc001tdj.2	-	1	795	c.677C>T	c.(676-678)tCc>tTc	p.S226F	TMCC3_uc001tdi.2_Missense_Mutation_p.S195F	NM_020698	NP_065749	Q9ULS5	TMCC3_HUMAN	Homo sapiens transmembrane and coiled-coil domain family 3 (TMCC3), mRNA.	226						integral to membrane				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	29						CTCCTCTAAGGAATTTTTCAA	0.498000														46			30		0	0	0.007291	0	0
ZPBP	11055	broad.mit.edu	37	7	50121403	50121403	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:50121403G>A	uc003tou.3	-	2	371	c.301C>T	c.(301-303)Caa>Taa	p.Q101*	ZPBP_uc010kyw.3_Nonsense_Mutation_p.Q101*	NM_007009	NP_008940	Q9BS86	ZPBP1_HUMAN	Homo sapiens zona pellucida binding protein (ZPBP), transcript variant 1, mRNA.	101					binding of sperm to zona pellucida	extracellular region				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(3)	29	Glioma(55;0.08)|all_neural(89;0.245)					CCATACCATTGGAATGATGGG	0.358000														43			16		0	0	0.003163	0	0
PLSCR3	57048	broad.mit.edu	37	17	7293969	7293969	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:7293969C>T	uc002ggn.2	-	6	1339	c.815G>A	c.(814-816)gGa>gAa	p.G272E	PLSCR3_uc002ggo.2_Missense_Mutation_p.G272E|PLSCR3_uc002ggm.2_Missense_Mutation_p.G272E|PLSCR3_uc002ggp.2_Missense_Mutation_p.G103E|PLSCR3_uc002ggq.2_Missense_Mutation_p.G103E|PLSCR3_uc010cmg.2_Missense_Mutation_p.G272E|PLSCR3_uc002ggr.2_Missense_Mutation_p.G272E	NM_020360	NP_065093	Q9NRY6	PLS3_HUMAN	Homo sapiens phospholipid scramblase 3 (PLSCR3), transcript variant 1, mRNA.	272					phospholipid scrambling	integral to membrane|plasma membrane	SH3 domain binding|calcium ion binding|calcium-dependent protein binding|phospholipid scramblase activity			endometrium(1)|kidney(2)|urinary_tract(1)	4		Prostate(122;0.173)				GAATGTGGCTCCCAGCAGCAC	0.582000														54			27		0	0	0.001786	0	0
FAM35A	54537	broad.mit.edu	37	10	88946957	88946957	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:88946957G>A	uc001kei.4	+	8	2422	c.2308_splice	c.e8+1	p.V770_splice	FAM35A_uc001kej.4_Splice_Site_p.V216_splice	NM_019054	NP_061927	Q86V20	FA35A_HUMAN	Homo sapiens family with sequence similarity 35, member A (FAM35A), mRNA.	770										endometrium(2)|kidney(2)|large_intestine(5)|lung(1)|ovary(2)|prostate(2)|skin(2)	16						CAGAGTGATAGGTAATATATC	0.368000														24			8		0	0	0.008291	0	0
USP19	10869	broad.mit.edu	37	3	49154225	49154226	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:49154225_49154226GG>AA	uc003cwd.2	-	5	1076_1077	c.757_758CC>TT	c.(757-759)cct>TTt	p.P253F	USP19_uc003cwa.3_Missense_Mutation_p.P59F|USP19_uc003cwb.3_Missense_Mutation_p.P339F|USP19_uc003cvz.4_Missense_Mutation_p.P354F|USP19_uc011bcg.2_Missense_Mutation_p.P344F|USP19_uc003cwc.2_Missense_Mutation_p.P7F|USP19_uc011bch.2_Missense_Mutation_p.P354F|USP19_uc011bci.2_Missense_Mutation_p.P339F	NM_006677	NP_006668	O94966	UBP19_HUMAN	Homo sapiens ubiquitin specific peptidase 19 (USP19), transcript variant 4, mRNA.	253					ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		ATCTTTCCCAGGGTTTCTGCTC	0.589000														25			16		0	0	0.004672	0	0
PPIAL4G	644591	broad.mit.edu	37	1	143767740	143767740	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:143767740G>A	uc001ejt.3	-	0	142	c.109C>T	c.(109-111)Cgt>Tgt	p.R37C		NM_001123068	NP_001116540	A2BFH1	PAL4G_HUMAN	Homo sapiens peptidylprolyl isomerase A (cyclophilin A)-like 4G (PPIAL4G), mRNA.	37	PPIase cyclophilin-type.				protein folding	cytoplasm	peptidyl-prolyl cis-trans isomerase activity			breast(1)|endometrium(2)|kidney(1)|lung(8)|ovary(1)|skin(1)	14						CTCAGAGCACGAAAGTTTTCT	0.478000														181			63		0	0	0.003610	0	0
TP63	8626	broad.mit.edu	37	3	189612073	189612073	+	Missense_Mutation	SNP	G	A	A	rs142762485		TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:189612073G>A	uc003fry.2	+	13	1914	c.1825G>A	c.(1825-1827)Gaa>Aaa	p.E609K	TP63_uc003frz.2_3'UTR|TP63_uc010hzc.1_3'UTR|TP63_uc003fsc.2_Missense_Mutation_p.E515K|TP63_uc003fsd.2_3'UTR|TP63_uc021xir.1_3'UTR|TP63_uc010hzd.1_Missense_Mutation_p.E430K	NM_003722	NP_003713	Q9H3D4	P63_HUMAN	Homo sapiens tumor protein p63 (TP63), transcript variant 1, mRNA.	609					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.E609K(2)		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)		GCAGCTCCACGAATTCTCCTC	0.567000										HNSCC(45;0.13)				52			21		0	0	0.001882	0	0
MEGF8	1954	broad.mit.edu	37	19	42839300	42839300	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:42839300C>T	uc002otl.4	+	3	1307	c.672C>T	c.(670-672)gcC>gcT	p.A224A	MEGF8_uc002otm.4_5'Flank	NM_001410	NP_001401	Q7Z7M0	MEGF8_HUMAN	Homo sapiens multiple EGF-like-domains 8 (MEGF8), mRNA.	224						integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				GGGACCCTGCCTTCTCTGCCC	0.647000														16			9		0	0	0.004482	0	0
GNRH2	2797	broad.mit.edu	37	20	3025445	3025445	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr20:3025445C>T	uc002whr.1	+	2	326	c.275C>T	c.(274-276)tCc>tTc	p.S92F	GNRH2_uc002whp.1_Missense_Mutation_p.S85F|GNRH2_uc002whq.1_Missense_Mutation_p.S84F|GNRH2_uc010gau.1_Missense_Mutation_p.S92F|MRPS26_uc002whs.3_5'Flank	NM_001501	NP_001492	O43555	GON2_HUMAN	Homo sapiens gonadotropin-releasing hormone 2 (GNRH2), transcript variant 1, mRNA.	92					multicellular organismal development|signal transduction	extracellular region|soluble fraction	hormone activity			ovary(1)|upper_aerodigestive_tract(1)	2						GCCCAGTGGTCCCTTCACAGG	0.647000														24			11		0	0	0.001368	0	0
NETO1	81832	broad.mit.edu	37	18	70450954	70450954	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr18:70450954C>T	uc002lkw.3	-	6	1111	c.827G>A	c.(826-828)cGa>cAa	p.R276Q	NETO1_uc002lky.2_Missense_Mutation_p.R276Q	NM_001201465	NP_001188394	Q8TDF5	NETO1_HUMAN	Homo sapiens neuropilin (NRP) and tolloid (TLL)-like 1 (NETO1), transcript variant 4, mRNA.	276	CUB 2.				memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity			NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		TCGGCTGTTTCGACTGCCCTC	0.463000														80			33		0	0	0.003755	0	0
RNPEPL1	57140	broad.mit.edu	37	2	241514528	241514528	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:241514528G>A	uc002vzi.3	+	6	1370	c.677G>A	c.(676-678)gGa>gAa	p.G226E	RNPEPL1_uc002vzj.3_5'Flank	NM_018226	NP_060696	Q9HAU8	RNPL1_HUMAN	Homo sapiens arginyl aminopeptidase (aminopeptidase B)-like 1 (RNPEPL1), mRNA.	226					leukotriene biosynthetic process|proteolysis		aminopeptidase activity|metallopeptidase activity|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	13		all_epithelial(40;1.13e-11)|Breast(86;0.000169)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.204)|Melanoma(123;0.238)		Epithelial(32;3.05e-31)|all cancers(36;8.2e-29)|OV - Ovarian serous cystadenocarcinoma(60;8.55e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.12e-06)|Lung(119;0.00168)|Colorectal(34;0.005)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.0322)		CAGCTCTGCGGAGACCCACAG	0.627000														52			24		0	0	0.003330	0	0
UPK2	7379	broad.mit.edu	37	11	118827130	118827130	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:118827130G>A	uc001puh.3	+	0	123	c.70G>A	c.(70-72)Gct>Act	p.A24T		NM_006760	NP_006751	O00526	UPK2_HUMAN	Homo sapiens uroplakin 2 (UPK2), mRNA.	24					cellular membrane organization|epithelial cell differentiation|multicellular organismal development	integral to endoplasmic reticulum membrane|integral to plasma membrane				kidney(1)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1)	5	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.122)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;7.47e-05)		GTCCCCAGGGGCTGCAGGTCT	0.637000														29			11		0	0	0.001855	0	0
FAM113B	91523	broad.mit.edu	37	12	47628996	47628996	+	Silent	SNP	A	G	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:47628996A>G	uc001rpq.3	+	1	675	c.150A>G	c.(148-150)gcA>gcG	p.A50A	FAM113B_uc001rpn.3_Silent_p.A50A|FAM113B_uc021qxi.1_Silent_p.A50A	NM_138371	NP_612380	Q96HM7	F113B_HUMAN	Homo sapiens family with sequence similarity 113, member B (FAM113B), mRNA.	50							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)					AGCTTAGAGCAAGGGGGGAGC	0.607000														21			8		0	0	0.003080	0	0
MUC15	143662	broad.mit.edu	37	11	26584708	26584708	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:26584708C>T	uc001mqw.3	-	3	1153	c.880G>A	c.(880-882)Gat>Aat	p.D294N	ANO3_uc010rdr.2_Intron|ANO3_uc001mqt.4_Intron|ANO3_uc010rds.2_Intron|ANO3_uc010rdt.2_Intron|MUC15_uc001mqx.3_Missense_Mutation_p.D267N|MUC15_uc001mqy.3_Intron	NM_001135091	NP_663625	Q8N387	MUC15_HUMAN	Homo sapiens mucin 15, cell surface associated (MUC15), transcript variant 1, mRNA.	267						extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25						GAAAATGAATCCGTTTTCCTT	0.398000														61			21		0	0	0.001882	0	0
HEPHL1	341208	broad.mit.edu	37	11	93844872	93844872	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:93844872G>A	uc001pep.2	+	19	3449	c.3292G>A	c.(3292-3294)Gag>Aag	p.E1098K	AF086184_uc001pen.1_Intron	NM_001098672	NP_001092142	Q6MZM0	HPHL1_HUMAN	Homo sapiens hephaestin-like 1 (HEPHL1), mRNA.	1098					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)				ACCTGGCAAAGAGCAGCTCTA	0.463000														27			16		0	0	0.004007	0	0
RNASE13	440163	broad.mit.edu	37	14	21502418	21502418	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:21502418G>A	uc021rot.1	-	0	30	c.30C>T	c.(28-30)ttC>ttT	p.F10F	NDRG2_uc010tll.2_Intron|RNASE13_uc001vzj.3_Silent_p.F10F	NM_001012264	NP_001012264	Q5GAN3	RNS13_HUMAN	Homo sapiens ribonuclease, RNase A family, 13 (non-active) (RNASE13), mRNA.	10						extracellular region	nucleic acid binding|pancreatic ribonuclease activity	p.L9F(1)		cervix(1)|endometrium(1)|lung(5)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	12	all_cancers(95;0.000759)		OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08)	GBM - Glioblastoma multiforme(265;0.019)		CAAGCTGGAGGAAAAGGAGCC	0.542000														25			15		0	0	0.004007	0	0
DNAJB3	414061	broad.mit.edu	37	2	234652190	234652190	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:234652190C>T	uc002vuz.3	-	0	472	c.373G>A	c.(373-375)Ggg>Agg	p.G125R	UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Intron|UGT1A1_uc002vur.3_Intron|UGT1A1_uc010zmw.1_Intron|UGT1A1_uc002vus.3_Intron|UGT1A1_uc010zmx.1_Intron|UGT1A1_uc002vut.3_Intron|UGT1A1_uc002vuu.3_Intron|UGT1A1_uc010zmy.1_Intron|UGT1A1_uc002vuv.4_Intron|UGT1A1_uc010zmz.1_Intron|UGT1A1_uc002vuw.3_Intron|UGT1A1_uc010zna.1_Intron|UGT1A1_uc002vux.3_Intron|UGT1A1_uc010znb.1_Intron|UGT1A1_uc002vuy.3_Intron	NM_001001394	NP_001001394	Q8WWF6	DNJB3_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 3 (DNAJB3), mRNA.	125					protein folding		heat shock protein binding|unfolded protein binding										TCCTCTGACCCCCCCAAAATA	0.547000														29			13		0	0	0.002450	0	0
abParts	0	broad.mit.edu	37	14	106518702	106518702	+	RNA	SNP	C	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:106518702C>A	uc021ser.1	-	2195		c.39251G>T								Parts of antibodies, mostly variable regions.																		TCACACTGGACACCTGCAAAC	0.522000														49			28		7.41945e-09	8.97077e-09	0.005443	1	0
HRH1	3269	broad.mit.edu	37	3	11301359	11301359	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:11301359G>A	uc010hdr.3	+	1	978	c.636G>A	c.(634-636)aaG>aaA	p.K212K	HRH1_uc010hds.3_Silent_p.K212K|HRH1_uc010hdt.3_Silent_p.K212K|HRH1_uc003bwb.4_Silent_p.K212K|HRH1_uc021wtb.1_Silent_p.K212K	NM_001098213	NP_001091683	P35367	HRH1_HUMAN	Homo sapiens histamine receptor H1 (HRH1), transcript variant 1, mRNA.	212					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|inflammatory response	cytoplasm|integral to plasma membrane|nucleus	histamine receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25					Aceprometazine(DB01615)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzquinamide(DB00767)|Bepotastine(DB04890)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlophedianol(DB04837)|Chlorpheniramine(DB01114)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clemastine(DB00283)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Maprotiline(DB00934)|Meclizine(DB00737)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nedocromil(DB00716)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Pemirolast(DB00885)|Phenindamine(DB01619)|Pheniramine(DB01620)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Terfenadine(DB00342)|Thiethylperazine(DB00372)|Trazodone(DB00656)|Trimeprazine(DB01246)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246)	TCTATGCCAAGATCTACAAGG	0.512000														47			97		0	0	0.003610	0	0
DAGLB	221955	broad.mit.edu	37	7	6465685	6465685	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:6465685G>A	uc003sqa.3	-	6	1160	c.990C>T	c.(988-990)ttC>ttT	p.F330F	DAGLB_uc011jwt.2_Silent_p.F144F|DAGLB_uc011jwu.2_Silent_p.F201F|DAGLB_uc003sqb.3_Silent_p.F49F|DAGLB_uc003sqc.3_Silent_p.F49F|DAGLB_uc011jwv.2_Non-coding_Transcript|DAGLB_uc003sqd.4_Silent_p.F289F|DAGLB_uc011jww.1_Non-coding_Transcript	NM_139179	NP_631918	Q8NCG7	DGLB_HUMAN	Homo sapiens diacylglycerol lipase, beta (DAGLB), transcript variant 1, mRNA.	330					lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|urinary_tract(2)	26		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.102)		GGATGGAGCCGAAGTGACAGT	0.537000														92			26		0	0	0.008361	0	0
abParts	0	broad.mit.edu	37	14	106321919	106321919	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:106321919C>T	uc021ser.1	-	4403		c.64723_splice	c.e4403-1		DKFZp686O16217_uc001yrs.3_Intron|DKFZp686O16217_uc001yrt.3_Intron|IGHE_uc001yrw.1_Intron|IGHE_uc001yrx.2_Intron|IGHE_uc001yrz.2_Intron|IGHG1_uc001yse.3_Intron|IGHE_uc001ysj.3_Intron|IGHE_uc001ysk.1_Intron|IGHE_uc001ysl.1_Intron|IGHE_uc001ysm.2_Intron|IGHE_uc001ysn.1_Intron					Parts of antibodies, mostly variable regions.																		GCTCGGCAATCACTGCAGTGA	0.682000														9			23		0	0	0.002780	0	0
THSD7B	80731	broad.mit.edu	37	2	137814593	137814593	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:137814593G>A	uc002tva.1	+	1	650	c.650G>A	c.(649-651)tGg>tAg	p.W217*	THSD7B_uc010zbj.1_Non-coding_Transcript|THSD7B_uc002tvb.3_Nonsense_Mutation_p.W107*	NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GTTGGACCATGGAGTAAATGC	0.413000														122			41		0	0	0.008740	0	0
CAMKV	79012	broad.mit.edu	37	3	49898378	49898378	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:49898378G>A	uc003cxt.1	-	6	829	c.636C>T	c.(634-636)atC>atT	p.I212I	CAMKV_uc011bcy.1_Silent_p.I137I|CAMKV_uc003cxv.1_Intron|CAMKV_uc003cxw.1_Silent_p.I44I|CAMKV_uc003cxx.1_Silent_p.I44I|CAMKV_uc003cxu.2_Silent_p.I212I|CAMKV_uc011bcz.1_Silent_p.I175I|CAMKV_uc011bda.1_Silent_p.I169I|CAMKV_uc011bdb.1_Non-coding_Transcript	NM_024046	NP_076951	Q8NCB2	CAMKV_HUMAN	Homo sapiens CaM kinase-like vesicle-associated (CAMKV), mRNA.	212	Protein kinase.					cytoplasmic vesicle membrane|plasma membrane	ATP binding|protein serine/threonine kinase activity			central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(2)	7				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		CCACTCACAGGATGTACATGA	0.592000														14			37		0	0	0.004878	0	0
GRIK2	2898	broad.mit.edu	37	6	102266321	102266321	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:102266321C>T	uc003pqp.4	+	8	1573	c.1280C>T	c.(1279-1281)tCc>tTc	p.S427F	GRIK2_uc003pqn.3_Missense_Mutation_p.S427F|GRIK2_uc010kcw.3_Missense_Mutation_p.S427F|GRIK2_uc003pqo.4_Missense_Mutation_p.S427F|GRIK2_uc021zdk.1_Missense_Mutation_p.S427F|GRIK2_uc021zdl.1_Non-coding_Transcript	NM_021956	NP_068775	Q13002	GRIK2_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 2 (GRIK2), transcript variant 1, mRNA.	427					glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	ATCACAGATTCCTTATCCAAT	0.368000														15			7		0	0	0.003080	0	0
XPO7	23039	broad.mit.edu	37	8	21847913	21847913	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:21847913C>T	uc003xaa.4	+	16	2029	c.1927C>T	c.(1927-1929)Cac>Tac	p.H643Y		NM_015024	NP_055839	Q9UIA9	XPO7_HUMAN	Homo sapiens exportin 7 (XPO7), mRNA.	643					mRNA transport|protein export from nucleus|transmembrane transport	cytoplasm|nuclear pore	nuclear export signal receptor activity|protein transporter activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)		GCTGAACAATCACACGGTGAG	0.463000														92			29		0	0	0.007291	0	0
PCDHB4	56131	broad.mit.edu	37	5	140501929	140501929	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:140501929C>T	uc003lip.1	+	0	349	c.349C>T	c.(349-351)Caa>Taa	p.Q117*		NM_018938	NP_061761	Q9Y5E5	PCDB4_HUMAN	Homo sapiens protocadherin beta 4 (PCDHB4), mRNA.	117	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCAATTTTTTCAAGGAGAATT	0.443000														43			22		0	0	0.002299	0	0
TLL2	7093	broad.mit.edu	37	10	98164993	98164993	+	Silent	SNP	A	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:98164993A>T	uc001kml.2	-	9	1504	c.1263T>A	c.(1261-1263)ctT>ctA	p.L421L	TLL2_uc009xvf.2_Silent_p.L399L	NM_012465	NP_036597	Q9Y6L7	TLL2_HUMAN	Homo sapiens tolloid-like 2 (TLL2), mRNA.	421	CUB 1.				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.P420P(1)		NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		ACTTACCCAAAAGGGGGGCTT	0.483000														76			46		0	0	0.003610	0	0
ZC3H15	55854	broad.mit.edu	37	2	187370494	187370494	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:187370494C>T	uc002upo.3	+	7	1117	c.892C>T	c.(892-894)Cgt>Tgt	p.R298C	ZC3H15_uc021vts.1_5'Flank	NM_018471	NP_060941	Q8WU90	ZC3HF_HUMAN	Homo sapiens zinc finger CCCH-type containing 15 (ZC3H15), mRNA.	298						cytoplasm|nucleolus|plasma membrane	nucleic acid binding|zinc ion binding	p.R298C(2)		breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	15			OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Epithelial(96;0.0922)|all cancers(119;0.233)			GTTTGAATTTCGTCCTGAACT	0.418000														31			22		0	0	0.003330	0	0
APOB	338	broad.mit.edu	37	2	21228679	21228679	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:21228679G>A	uc002red.3	-	25	11189	c.11061C>T	c.(11059-11061)ttC>ttT	p.F3687F		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	3687					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)	CCAGCTTTAGGAAATCCCATA	0.433000														332			113		0	0	0.003610	0	0
PCNT	5116	broad.mit.edu	37	21	47744193	47744193	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr21:47744193G>A	uc002zji.4	+	0	158	c.51G>A	c.(49-51)acG>acA	p.T17T	PCNT_uc002zjj.3_5'Flank|C21orf58_uc011afx.2_5'Flank|C21orf58_uc002zjf.3_5'Flank|C21orf58_uc010gqj.2_5'Flank|C21orf58_uc002zjg.1_5'Flank|C21orf58_uc021wka.1_Non-coding_Transcript	NM_006031	NP_006022	O95613	PCNT_HUMAN	Homo sapiens pericentrin (PCNT), mRNA.	17					G2/M transition of mitotic cell cycle|cilium assembly	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					CCGGGAGGACGAAGGTAAACA	0.667000														9			6		0	0	0.001984	0	0
SLC25A52	147407	broad.mit.edu	37	18	29339787	29339787	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr18:29339787G>A	uc002kxa.2	-	0	1057	c.838C>T	c.(838-840)Ctc>Ttc	p.L280F		NM_001034172	NP_001029344	Q3SY17	MCAR2_HUMAN	Homo sapiens mitochondrial carrier triple repeat 2 (MCART2), nuclear gene encoding mitochondrial protein, mRNA.	280					transport	integral to membrane|mitochondrial inner membrane											CAAGAGATGAGGGACCGATGG	0.373000														43			19		0	0	0.002780	0	0
CYP2C19	1557	broad.mit.edu	37	10	96535171	96535171	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:96535171G>A	uc010qnz.2	+	2	356	c.356G>A	c.(355-357)aGa>aAa	p.R119K	CYP2C19_uc009xus.1_Intron|CYP2C19_uc010qny.2_Missense_Mutation_p.R97K	NM_000769	NP_000760	P33261	CP2CJ_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 19 (CYP2C19), mRNA.	119					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	AATGGAAAGAGATGGAAGGAG	0.527000														46			13		0	0	0.002450	0	0
COL20A1	57642	broad.mit.edu	37	20	61944589	61944589	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr20:61944589C>T	uc011aau.2	+	16	2297	c.2197C>T	c.(2197-2199)Cgc>Tgc	p.R733C	COL20A1_uc011aav.2_Missense_Mutation_p.R554C	NM_020882	NP_065933	Q9P218	COKA1_HUMAN	Homo sapiens collagen, type XX, alpha 1 (COL20A1), mRNA.	733	Fibronectin type-III 5.				cell adhesion	collagen|extracellular space	structural molecule activity			NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					TGTGTCCCTCCGCTATACCCC	0.677000														17			9		0	0	0.001855	0	0
PTPRZ1	5803	broad.mit.edu	37	7	121651597	121651597	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:121651597C>T	uc003vjy.3	+	11	2892	c.2497C>T	c.(2497-2499)Cgc>Tgc	p.R833C	PTPRZ1_uc011knt.2_Intron|PTPRZ1_uc003vjz.3_Intron	NM_002851	NP_002842	P23471	PTPRZ_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor-type, Z polypeptide 1 (PTPRZ1), transcript variant 1, mRNA.	833					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						TGAATTGTTTCGCCATCTGCA	0.468000														116			58		0	0	0.003610	0	0
ACSM2B	348158	broad.mit.edu	37	16	20554548	20554548	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:20554548C>T	uc002dhj.4	-	11	1528	c.1318G>A	c.(1318-1320)Gac>Aac	p.D440N	ACSM2B_uc002dhk.4_Missense_Mutation_p.D440N|ACSM2B_uc010bwf.1_Missense_Mutation_p.D440N	NM_182617	NP_872423	Q68CK6	ACS2B_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 2B (ACSM2B), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	440					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|CoA-ligase activity|butyrate-CoA ligase activity|metal ion binding			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						AGCCAAAAGTCTCCTCGAATG	0.512000														82			19		0	0	0.003330	0	0
ODZ3	55714	broad.mit.edu	37	4	183714622	183714622	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:183714622C>T	uc003ivd.1	+	24	6872	c.6797C>T	c.(6796-6798)tCg>tTg	p.S2266L		NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	2266					signal transduction	integral to membrane				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)		TACAACCATTCGAGTTCAGAA	0.413000														31			8		0	0	0.003080	0	0
KIAA0319L	79932	broad.mit.edu	37	1	35972519	35972520	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:35972519_35972520CC>TT	uc001byx.3	-	2	617_618	c.359_360GG>AA	c.(358-360)agg>aAA	p.R120K	KIAA0319L_uc010ohw.2_Non-coding_Transcript|KIAA0319L_uc010ohx.1_Missense_Mutation_p.R120K	NM_024874	NP_079150	Q8IZA0	K319L_HUMAN	Homo sapiens KIAA0319-like (KIAA0319L), mRNA.	120	MANSC.					cytoplasmic vesicle part|integral to membrane	protein binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	34		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				AGGAGTGTGTCCTAAAAGCCCG	0.515000														56			23		0	0	0.004672	0	0
PABPC3	5042	broad.mit.edu	37	13	25671146	25671146	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr13:25671146G>A	uc001upy.3	+	0	871	c.810G>A	c.(808-810)gtG>gtA	p.V270V		NM_030979	NP_112241	Q9H361	PABP3_HUMAN	Homo sapiens poly(A) binding protein, cytoplasmic 3 (PABPC3), mRNA.	270					mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		AGAAAAAAGTGGAACGGCAGA	0.403000														54			12		0	0	0.001368	0	0
ITGA1	3672	broad.mit.edu	37	5	52227900	52227900	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:52227900C>T	uc003jou.3	+	21	3209	c.2795C>T	c.(2794-2796)aCc>aTc	p.T932I	ITGA1_uc003jov.3_Non-coding_Transcript|ITGA1_uc003jow.3_Missense_Mutation_p.T463I	NM_181501	NP_852478	P56199	ITA1_HUMAN	Homo sapiens integrin, alpha 1 (ITGA1), mRNA.	932					axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				CCTCCTGAAACCCTTTCTGAT	0.348000														41			13		0	0	0.003163	0	0
GLYCTK	132158	broad.mit.edu	37	3	52324538	52324538	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:52324538C>T	uc003ddo.3	+	1	276	c.180C>T	c.(178-180)tcC>tcT	p.S60S	GLYCTK_uc003ddq.2_Silent_p.S60S|GLYCTK_uc003ddm.3_Intron|GLYCTK_uc003ddn.3_Non-coding_Transcript|GLYCTK_uc003ddp.1_Silent_p.S60S|GLYCTK_uc003ddr.3_5'Flank	NM_145262	NP_660305	Q8IVS8	GLCTK_HUMAN	Homo sapiens glycerate kinase (GLYCTK), transcript variant 1, mRNA.	60					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)		GGGCACTATCCTTGGACCCTG	0.622000														19			17		0	0	0.006122	0	0
FMOD	2331	broad.mit.edu	37	1	203316946	203316946	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:203316946G>A	uc001gzr.3	-	1	589	c.453C>T	c.(451-453)ttC>ttT	p.F151F		NM_002023	NP_002014	Q06828	FMOD_HUMAN	Homo sapiens fibromodulin (FMOD), mRNA.	151					transforming growth factor beta receptor complex assembly	extracellular space|proteinaceous extracellular matrix				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	17			BRCA - Breast invasive adenocarcinoma(75;0.171)			TCAGCTTGGAGAAGACCTTCC	0.597000														62			23		0	0	0.002780	0	0
LILRB5	10990	broad.mit.edu	37	19	54754889	54754889	+	Silent	SNP	T	C	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:54754889T>C	uc010yer.1	-	12	1857	c.1746A>G	c.(1744-1746)agA>agG	p.R582R	LILRB3_uc002qew.2_Intron|LILRB5_uc002qey.3_Intron|LILRB5_uc002qez.3_Intron|LILRB5_uc002qex.3_Intron|LILRB5_uc002qfa.1_3'UTR			O75023	LIRB5_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5 (LILRB5), transcript variant 1, mRNA.	388					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)		TGTCCATCTGTCTGTCCTCTT	0.597000														17			3		0	0	0.001984	0	0
TFR2	7036	broad.mit.edu	37	7	100226950	100226950	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:100226950C>T	uc003uvv.1	-	9	1385	c.1316G>A	c.(1315-1317)gGa>gAa	p.G439E	TFR2_uc010lhc.1_5'UTR|TFR2_uc003uvu.1_Missense_Mutation_p.G268E	NM_003227	NP_003218	Q9UP52	TFR2_HUMAN	Homo sapiens transferrin receptor 2 (TFR2), transcript variant 1, mRNA.	439					cellular iron ion homeostasis|iron ion transport|proteolysis	cytoplasm|integral to plasma membrane	peptidase activity|transferrin receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					TTTAGCTGCTCCTGGGCCCCA	0.632000														25			13		0	0	0.001368	0	0
AKAP13	11214	broad.mit.edu	37	15	86278326	86278327	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:86278326_86278327CC>TT	uc002blv.1	+	30	7556_7557	c.7386_7387CC>TT	c.(7384-7389)ccccgg>ccTTgg	p.R2463W	AKAP13_uc002blu.1_Missense_Mutation_p.R2467W|AKAP13_uc002blw.1_Missense_Mutation_p.R928W|AKAP13_uc002blx.1_Missense_Mutation_p.R708W	NM_007200	NP_009131	Q12802	AKP13_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 13 (AKAP13), transcript variant 2, mRNA.	2463	Interaction with ESR1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	Rho guanyl-nucleotide exchange factor activity|cAMP-dependent protein kinase activity|metal ion binding|protein binding|signal transducer activity	p.P2462P(1)|p.P2466P(1)		NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						TTTCCCTGCCCCGGAGAGCAGA	0.500000														100			48		0	0	0.004672	0	0
FGF6	2251	broad.mit.edu	37	12	4553335	4553335	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:4553335G>A	uc001qmr.1	-	1	458	c.414C>T	c.(412-414)ttC>ttT	p.F138F		NM_020996	NP_066276	P10767	FGF6_HUMAN	Homo sapiens fibroblast growth factor 6 (FGF6), mRNA.	138					angiogenesis|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	growth factor activity	p.F138F(2)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)			TCATGGCAACGAAGAGGGCAC	0.517000														44			15		0	0	0.004990	0	0
MSLN	10232	broad.mit.edu	37	16	817004	817004	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:817004C>T	uc002cjw.2	+	13	1628	c.1517C>T	c.(1516-1518)tCc>tTc	p.S506F	MSLN_uc002cju.1_Missense_Mutation_p.S498F|MSLN_uc002cjt.1_Missense_Mutation_p.S498F|MSLN_uc010brd.1_Missense_Mutation_p.S497F|MSLN_uc002cjy.1_Missense_Mutation_p.S163F	NM_013404	NP_037536	Q13421	MSLN_HUMAN	Homo sapiens mesothelin (MSLN), transcript variant 2, mRNA.	506					cell adhesion	Golgi apparatus|anchored to membrane|extracellular region|plasma membrane				breast(2)|kidney(2)|lung(11)|pancreas(1)|prostate(1)|skin(3)	20		Hepatocellular(780;0.00335)				AAGATCCAGTCCTTCCTGGGT	0.632000														24			16		0	0	0.004990	0	0
DCTN2	10540	broad.mit.edu	37	12	57939822	57939822	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:57939822C>G	uc021qzn.1	-	1	226	c.94G>C	c.(94-96)Gag>Cag	p.E32Q	DCTN2_uc001som.1_Missense_Mutation_p.E32Q|DCTN2_uc009zpv.1_5'UTR|DCTN2_uc009zpw.1_5'UTR	NM_006400	NP_006391	Q13561	DCTN2_HUMAN	Homo sapiens dynactin 2 (p50) (DCTN2), mRNA.	32					G2/M transition of mitotic cell cycle|cell proliferation|mitosis	centrosome|cytosol|dynactin complex|dynein complex|kinetochore|membrane|microtubule|vesicle	motor activity|protein binding			endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|upper_aerodigestive_tract(2)	11						GCATCGAACTCCGCTTGATCA	0.537000														52			18		0	0	0.007413	0	0
ZP2	7783	broad.mit.edu	37	16	21213473	21213473	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:21213473C>T	uc010bwn.1	-	10	1438	c.1356G>A	c.(1354-1356)ggG>ggA	p.G452G	ZP2_uc002dii.2_Silent_p.G413G	NM_003460	NP_003451	Q05996	ZP2_HUMAN	Homo sapiens zona pellucida glycoprotein 2 (sperm receptor) (ZP2), mRNA.	413	ZP.				binding of sperm to zona pellucida|intracellular protein transport	Golgi apparatus|endoplasmic reticulum|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule	acrosin binding|coreceptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41				GBM - Glioblastoma multiforme(48;0.0573)		ACCGTACCAGCCCCTGAGACT	0.512000														24			7		0	0	0.001984	0	0
TNFRSF25	8718	broad.mit.edu	37	1	6521580	6521581	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:6521580_6521581GG>AA	uc001anh.3	-	9	1282_1283	c.1194_1195CC>TT	c.(1192-1197)ggcctc>ggTTtc	p.L399F	TNFRSF25_uc001ana.3_Missense_Mutation_p.L207F|TNFRSF25_uc001anb.3_Non-coding_Transcript|TNFRSF25_uc001anc.3_Non-coding_Transcript|TNFRSF25_uc001and.3_Missense_Mutation_p.L163F|TNFRSF25_uc009vlz.3_Non-coding_Transcript|TNFRSF25_uc001ane.3_Missense_Mutation_p.L390F|TNFRSF25_uc001anf.3_Missense_Mutation_p.L353F|TNFRSF25_uc001ang.3_Missense_Mutation_p.L345F	NM_148965	NP_683866	Q93038	TNR25_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 25 (TNFRSF25), transcript variant 1, mRNA.	390	Death.				apoptosis|induction of apoptosis by extracellular signals	cytosol|extracellular region|integral to plasma membrane	tumor necrosis factor receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|lung(4)|prostate(1)|stomach(1)	10	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Acute lymphoblastic leukemia(12;0.00157)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;4.58e-35)|GBM - Glioblastoma multiforme(13;3.06e-27)|Colorectal(212;6.01e-08)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|BRCA - Breast invasive adenocarcinoma(365;0.00105)|STAD - Stomach adenocarcinoma(132;0.00158)|READ - Rectum adenocarcinoma(331;0.0419)		ACGGCTCCGAGGCCCGCGGGCT	0.703000														3			3		0	0	0.004672	0	0
TRBV7-3	28595	broad.mit.edu	37	7	142247212	142247212	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:142247212C>T	uc003vyd.4	-	1	269	c.244G>A	c.(244-246)Gat>Aat	p.D82N	TRBV5-1_uc011krr.1_Intron|BV13S6J2.1_uc011krx.2_Intron|BV13S6J2.1_uc011ksa.2_Intron					SubName: Full=V_segment translation product; Flags: Fragment;																		AAGAACCGATCGTTGGGCAGC	0.572000														25			39		0	0	0.005524	0	0
TPO	7173	broad.mit.edu	37	2	1520668	1520668	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:1520668C>T	uc002qwr.3	+	14	2618	c.2532C>T	c.(2530-2532)ctC>ctT	p.L844L	TPO_uc010ewj.3_Non-coding_Transcript|TPO_uc002qww.3_Silent_p.L844L|TPO_uc002qwx.3_Silent_p.L787L|TPO_uc002qwu.3_Silent_p.L787L|TPO_uc010yio.2_Silent_p.L671L|TPO_uc010yip.2_Silent_p.L800L|TPO_uc002qwy.1_Silent_p.L140L|TPO_uc002qwz.3_Non-coding_Transcript	NM_001206744	NP_001193673	P07202	PERT_HUMAN	Homo sapiens thyroid peroxidase (TPO), transcript variant 6, mRNA.	844					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity	p.L844I(1)		breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	CCGGGAGGCTCCCTCGGGTGA	0.602000														38			6		0	0	0.001984	0	0
ZFP106	64397	broad.mit.edu	37	15	42743513	42743513	+	Silent	SNP	A	C	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:42743513A>C	uc001zpw.3	-	1	1215	c.888T>G	c.(886-888)ggT>ggG	p.G296G	ZFP106_uc001zpu.3_5'Flank|ZFP106_uc001zpv.3_Intron|ZFP106_uc001zpx.3_Intron|ZFP106_uc010udh.1_Silent_p.G79G|ZFP106_uc001zpy.1_Silent_p.G319G	NM_022473	NP_071918	Q9H2Y7	ZF106_HUMAN	Homo sapiens zinc finger protein 106 homolog (mouse) (ZFP106), mRNA.	296						nucleolus	zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	61		all_cancers(109;1.63e-12)|all_epithelial(112;3.97e-11)|Lung NSC(122;2.04e-07)|all_lung(180;8.31e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.6e-07)		CTTCAGAAGGACCTCTATATG	0.393000														62			6		0	0	0.003080	0	0
MUC16	94025	broad.mit.edu	37	19	9057356	9057356	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:9057356C>T	uc002mkp.3	-	2	30294	c.30090G>A	c.(30088-30090)acG>acA	p.T10030T		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	10032	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						AAGGTGAGGTCGTGACAGGTA	0.458000														36			13		0	0	0.001855	0	0
CREB3L3	84699	broad.mit.edu	37	19	4171732	4171733	+	Nonsense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:4171732_4171733CC>TT	uc002lzl.3	+	9	1268_1269	c.1152_1153CC>TT	c.(1150-1155)ccccga>ccTTga	p.R385*	CREB3L3_uc002lzm.3_Nonsense_Mutation_p.R375*|CREB3L3_uc010xib.2_Nonsense_Mutation_p.R374*|CREB3L3_uc010xic.2_3'UTR	NM_032607	NP_115996	Q68CJ9	CR3L3_HUMAN	Homo sapiens cAMP responsive element binding protein 3-like 3 (CREB3L3), mRNA.	385					response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3)	24				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCCAGGACCCCGACCCGAGGC	0.639000														87			18		0	0	0.004672	0	0
OR10S1	219873	broad.mit.edu	37	11	123847940	123847940	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:123847940C>T	uc001pzm.1	-	0	459	c.459G>A	c.(457-459)agG>agA	p.R153R		NM_001004474	NP_001004474	Q8NGN2	O10S1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily S, member 1 (OR10S1), mRNA.	153					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	36		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;0.0399)		CTGCACACATCCTTCTGTTCA	0.572000														33			13		0	0	0.003163	0	0
CDCA7	83879	broad.mit.edu	37	2	174230214	174230214	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:174230214C>T	uc002uic.1	+	6	1060	c.929C>T	c.(928-930)tCa>tTa	p.S310L	CDCA7_uc002uid.1_Missense_Mutation_p.S231L|CDCA7_uc010zej.1_Missense_Mutation_p.S266L|CDCA7_uc010zek.1_Missense_Mutation_p.S189L	NM_031942	NP_114148	Q9BWT1	CDCA7_HUMAN	Homo sapiens cell division cycle associated 7 (CDCA7), transcript variant 1, mRNA.	231	Mediates transcriptional activity.				regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.116)			CGCTCCAGATCATCCGTGACC	0.438000														57			38		0	0	0.002852	0	0
NOBOX	135935	broad.mit.edu	37	7	144098309	144098309	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:144098309G>A	uc022aoj.1	-	3	674	c.674C>T	c.(673-675)tCa>tTa	p.S225L		NM_001080413	NP_001073882	O60393	NOBOX_HUMAN	Homo sapiens NOBOX oogenesis homeobox (NOBOX), mRNA.	225					cell differentiation|oogenesis	nucleus	sequence-specific DNA binding	p.N224K(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26	Melanoma(164;0.14)					GGCACGGGCTGAGTTAGGGGC	0.592000														18			7		0	0	0.006214	0	0
NAA25	80018	broad.mit.edu	37	12	112481521	112481522	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:112481521_112481522CC>TT	uc001ttm.3	-	17	2215_2216	c.2157_2158GG>AA	c.(2155-2160)ggggta>ggAAta	p.V720I	NAA25_uc001ttn.4_Non-coding_Transcript|NAA25_uc009zvz.2_Missense_Mutation_p.V692I|NAA25_uc009zwa.2_Missense_Mutation_p.V720I	NM_024953	NP_079229	Q14CX7	NAA25_HUMAN	Homo sapiens N(alpha)-acetyltransferase 25, NatB auxiliary subunit (NAA25), mRNA.	720						cytoplasm	protein binding			autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						CGGGAGGATACCCCATTCTCGG	0.480000														77			32		0	0	0.004672	0	0
KCNH7	90134	broad.mit.edu	37	2	163236468	163236468	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:163236468G>A	uc002uch.2	-	13	3255	c.3026C>T	c.(3025-3027)cCa>cTa	p.P1009L		NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 7 (KCNH7), transcript variant 1, mRNA.	1009					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	AAGTGCAGATGGACTGGAGTC	0.498000														93			38		0	0	0.006999	0	0
MAP3K7	6885	broad.mit.edu	37	6	91233485	91233485	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:91233485G>A	uc003pnz.1	-	13	1679	c.1374C>T	c.(1372-1374)tcC>tcT	p.S458S	MAP3K7_uc003pny.1_5'UTR|MAP3K7_uc003pob.1_Silent_p.S431S|MAP3K7_uc003poa.1_Silent_p.S458S|MAP3K7_uc003poc.1_Silent_p.S431S	NM_145331	NP_663304	O43318	M3K7_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 7 (MAP3K7), transcript variant B, mRNA.	458					I-kappaB phosphorylation|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|activation of NF-kappaB-inducing kinase activity|histone H3 acetylation|innate immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|positive regulation of interleukin-2 production|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|transforming growth factor beta receptor signaling pathway	Ada2/Gcn5/Ada3 transcription activator complex|cytosol|endosome membrane	ATP binding|MAP kinase kinase kinase activity|magnesium ion binding|protein binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	28		all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164)		OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429)		CACTGGGACTGGATGACCTAC	0.433000														38			11		0	0	0.000978	0	0
TTBK2	146057	broad.mit.edu	37	15	43045325	43045325	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:43045325G>A	uc001zqo.2	-	13	2558	c.2119C>T	c.(2119-2121)Cca>Tca	p.P707S	TTBK2_uc010bcy.2_Missense_Mutation_p.P638S	NM_173500	NP_775771	Q6IQ55	TTBK2_HUMAN	Homo sapiens tau tubulin kinase 2 (TTBK2), mRNA.	707					cell death		ATP binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		TTTTCCCTTGGAGAGTAAAGT	0.488000														88			10		0	0	0.006214	0	0
TFAP2D	83741	broad.mit.edu	37	6	50696949	50696949	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:50696949G>A	uc003paf.3	+	4	1319	c.807G>A	c.(805-807)ttG>ttA	p.L269L	TFAP2D_uc011dwt.2_Non-coding_Transcript	NM_172238	NP_758438	Q7Z6R9	AP2D_HUMAN	Homo sapiens transcription factor AP-2 delta (activating enhancer binding protein 2 delta) (TFAP2D), mRNA.	269							DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60	Lung NSC(77;0.0334)					GAGAGAAATTGGATAGGCTTG	0.393000														76			34		0	0	0.005524	0	0
PDZD2	23037	broad.mit.edu	37	5	32089917	32089917	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:32089917G>A	uc003jhl.3	+	19	6751	c.6363G>A	c.(6361-6363)caG>caA	p.Q2121Q	PDZD2_uc003jhm.3_Silent_p.Q2121Q	NM_178140	NP_835260	O15018	PDZD2_HUMAN	Homo sapiens PDZ domain containing 2 (PDZD2), mRNA.	2121					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						GCTTGGCCCAGGGCAACTGTC	0.537000														60			19		0	0	0.002299	0	0
CDHR2	54825	broad.mit.edu	37	5	176016391	176016391	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:176016391G>A	uc021yie.1	+	22	3343	c.3069G>A	c.(3067-3069)agG>agA	p.R1023R	CDHR2_uc003mem.2_Silent_p.R1023R|CDHR2_uc003men.1_Silent_p.R1023R	NM_001171976	NP_060145	Q9BYE9	CDHR2_HUMAN	Homo sapiens cadherin-related family member 2 (CDHR2), transcript variant 1, mRNA.	1023	Cadherin 9.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			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						TCCAGGCCAGGGACAGACCTT	0.647000														64			21		0	0	0.002780	0	0
ARID5A	10865	broad.mit.edu	37	2	97217625	97217625	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:97217625C>T	uc002swe.3	+	6	1460	c.1360C>T	c.(1360-1362)Cac>Tac	p.H454Y	ARID5A_uc010yuq.2_Missense_Mutation_p.H402Y|ARID5A_uc002swf.3_Missense_Mutation_p.H290Y|ARID5A_uc002swg.3_Missense_Mutation_p.H402Y	NM_212481	NP_997646	Q03989	ARI5A_HUMAN	Homo sapiens AT rich interactive domain 5A (MRF1-like) (ARID5A), mRNA.	454					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(2)	14						GGGTGCTGCCCACAGTGGGAA	0.667000														11			4		0	0	0.000248	0	0
MACF1	23499	broad.mit.edu	37	1	39950423	39950423	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:39950423C>T	uc001cdg.3	+	3	614	c.541C>T	c.(541-543)Cta>Tta	p.L181L	MACF1_uc021ols.1_Intron|MACF1_uc021olt.1_Intron|MACF1_uc021olw.1_Intron|MACF1_uc001cde.2_Intron|MACF1_uc001cdh.3_Silent_p.L144L			Q9UPN3	MACF1_HUMAN	Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.	0	Actin-binding.|CH 1.				Golgi to plasma membrane protein transport|Wnt receptor signaling pathway|cell cycle arrest|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|wound healing	Golgi apparatus|microtubule|ruffle membrane	ATPase activity|actin filament binding|calcium ion binding|microtubule binding	p.L180F(1)		breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GCCCCGTGACCTACAAGCCAG	0.522000														45			21		0	0	0.001523	0	0
STK31	56164	broad.mit.edu	37	7	23810624	23810624	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:23810624G>A	uc003sws.4	+	14	1781	c.1714_splice	c.e14-1	p.D572_splice	STK31_uc003swt.4_Splice_Site_p.D549_splice|STK31_uc011jze.2_Splice_Site_p.D572_splice|STK31_uc010kuq.3_Splice_Site_p.D549_splice	NM_031414	NP_116562	Q9BXU1	STK31_HUMAN	Homo sapiens serine/threonine kinase 31 (STK31), transcript variant 1, mRNA.	572							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						TTTCATTTAGGATCAAGGTGA	0.338000														53			51		0	0	0.003610	0	0
DSCAM	1826	broad.mit.edu	37	21	42080546	42080546	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr21:42080546C>T	uc002yyq.1	-	1	647	c.195G>A	c.(193-195)gaG>gaA	p.E65E	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.	65	Ig-like C2-type 1.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	p.E64K(1)		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)				CATCGTAGATCTCCTCGCCCG	0.572000														44			24		0	0	0.002780	0	0
ENPP4	22875	broad.mit.edu	37	6	46107693	46107693	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:46107693C>T	uc003oxy.3	+	1	632	c.373C>T	c.(373-375)Ctt>Ttt	p.L125F		NM_014936	NP_055751	Q9Y6X5	ENPP4_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative) (ENPP4), mRNA.	125						integral to membrane	hydrolase activity			central_nervous_system(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	18						GACCAATCAGCTTCAGGAAAA	0.418000														94			22		0	0	0.002780	0	0
PKDREJ	10343	broad.mit.edu	37	22	46653792	46653792	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr22:46653792C>T	uc003bhh.3	-	0	5428	c.5428G>A	c.(5428-5430)Gaa>Aaa	p.E1810K		NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN	Homo sapiens polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin) (PKDREJ), mRNA.	1810					acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		ACAAACTTTTCGGCAGGTAGA	0.398000														189			58		0	0	0.003610	0	0
ARHGEF9	23229	broad.mit.edu	37	X	62917014	62917014	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chrX:62917014G>A	uc004dvl.2	-	3	1391	c.552C>T	c.(550-552)ttC>ttT	p.F184F	ARHGEF9_uc011mos.1_Silent_p.F163F|ARHGEF9_uc004dvk.1_Silent_p.F46F|ARHGEF9_uc004dvm.1_Silent_p.F163F|ARHGEF9_uc004dvj.2_Silent_p.F82F|ARHGEF9_uc011mot.2_Silent_p.F131F|ARHGEF9_uc004dvn.3_Silent_p.F191F	NM_015185	NP_001166951	O43307	ARHG9_HUMAN	Homo sapiens Cdc42 guanine nucleotide exchange factor (GEF) 9 (ARHGEF9), transcript variant 1, mRNA.	184	DH.				apoptosis|induction of apoptosis by extracellular signals|ion transmembrane transport|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol	Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|skin(1)	35						CGTGCTCTAGGAAGCAGGGTC	0.458000														2			10		0	0	0.008291	0	0
LOC100507433	100507433	broad.mit.edu	37	19	38103241	38103241	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:38103241C>T	uc002ogq.3	+	4	1427	c.1060C>T	c.(1060-1062)Ccc>Tcc	p.P354S	LOC100507433_uc002ogu.3_Missense_Mutation_p.P354S|LOC100507433_uc010efq.3_Missense_Mutation_p.P322S	NM_152606	NP_689819			Homo sapiens zinc finger protein 540 (ZNF540), transcript variant 2, mRNA.																		TGGTGTAAAACCCTACGAATG	0.383000														42			18		0	0	0.007413	0	0
GCNT3	9245	broad.mit.edu	37	15	59911232	59911232	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:59911232G>A	uc002age.3	+	2	1244	c.795G>A	c.(793-795)tgG>tgA	p.W265*	GCNT3_uc002agd.3_Nonsense_Mutation_p.W265*|GCNT3_uc021smz.1_Nonsense_Mutation_p.W265*	NM_004751	NP_004742	O95395	GCNT3_HUMAN	Homo sapiens glucosaminyl (N-acetyl) transferase 3, mucin type (GCNT3), mRNA.	265					protein O-linked glycosylation	Golgi membrane|integral to membrane|membrane fraction	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity|beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity			central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						AAACCCGCTGGAAATATCACT	0.433000														135			66		0	0	0.003610	0	0
SPOCK3	50859	broad.mit.edu	37	4	167810364	167810364	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:167810364C>T	uc011cjq.1	-	4	599	c.542G>A	c.(541-543)gGa>gAa	p.G181E	SPOCK3_uc021xuf.1_Missense_Mutation_p.G172E|SPOCK3_uc011cjr.1_Missense_Mutation_p.G52E|SPOCK3_uc003iri.1_Missense_Mutation_p.G172E|SPOCK3_uc011cjs.1_Missense_Mutation_p.G121E|SPOCK3_uc003irj.1_Missense_Mutation_p.G169E|SPOCK3_uc011cjt.1_Missense_Mutation_p.G80E|SPOCK3_uc011cjp.2_Missense_Mutation_p.G169E|SPOCK3_uc011cju.1_Missense_Mutation_p.G76E|SPOCK3_uc011cjv.1_Missense_Mutation_p.G74E|SPOCK3_uc003irk.4_Missense_Mutation_p.G169E|SPOCK3_uc011cjw.1_Non-coding_Transcript	NM_001204353	NP_001191282	Q9BQ16	TICN3_HUMAN	Homo sapiens sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3 (SPOCK3), transcript variant 4, mRNA.	172	Kazal-like.				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)		GATCTGTTTTCCTAAGACACA	0.328000														79			18		0	0	0.008871	0	0
OR52E6	390078	broad.mit.edu	37	11	5862608	5862608	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:5862608G>A	uc010qzq.2	-	0	520	c.520C>T	c.(520-522)Cgt>Tgt	p.R174C	TRIM5_uc001mbq.1_Intron	NM_001005167	NP_001005167	Q96RD3	O52E6_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily E, member 6 (OR52E6), mRNA.	174					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R178C(1)		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)		GGGATGATACGATGTCCACAG	0.478000														72			33		0	0	0.003271	0	0
TMEM72	643236	broad.mit.edu	37	10	45429120	45429120	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:45429120A>T	uc001jbn.2	+	3	442	c.245A>T	c.(244-246)gAg>gTg	p.E82V	TMEM72-AS1_uc001jbk.1_Intron|TMEM72_uc009xmm.1_5'UTR	NM_001123376	NP_001116848	A0PK05	TMM72_HUMAN	Homo sapiens transmembrane protein 72 (TMEM72), mRNA.	82						integral to membrane				breast(2)|kidney(1)|large_intestine(2)|lung(10)	15						AGAGTAAGGGAGAAAGCCCAC	0.602000														29			16		0	0	0.007413	0	0
FOXM1	2305	broad.mit.edu	37	12	2968099	2968099	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:2968099C>T	uc001qlf.3	-	8	2280	c.1997G>A	c.(1996-1998)aGt>aAt	p.S666N	LOC100507424_uc021qtc.1_Intron|FOXM1_uc001qle.3_Missense_Mutation_p.S704N|FOXM1_uc009zea.3_Missense_Mutation_p.S651N|FOXM1_uc009zeb.3_Missense_Mutation_p.S650N|FOXM1_uc001qlg.3_Missense_Mutation_p.S651N	NM_021953	NP_068772	Q08050	FOXM1_HUMAN	Homo sapiens forkhead box M1 (FOXM1), transcript variant 2, mRNA.	666					cell cycle|embryo development|liver development|negative regulation of cell aging|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of Ras protein signal transduction|regulation of cell cycle arrest|regulation of cell growth|regulation of cell proliferation|regulation of oxygen and reactive oxygen species metabolic process|regulation of reactive oxygen species metabolic process|regulation of sequence-specific DNA binding transcription factor activity|tissue development|transcription from RNA polymerase II promoter|vasculogenesis	cytoplasm|transcription factor complex	DNA bending activity|DNA binding|double-stranded DNA binding|promoter binding|protein binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|transcription factor binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3)	24			OV - Ovarian serous cystadenocarcinoma(31;0.000622)			GGGGGGAGCACTTTGCAAGGG	0.577000														38			21		0	0	0.008871	0	0
OVCH2	341277	broad.mit.edu	37	11	7723023	7723023	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:7723023C>T	uc010rbf.2	-	6	560	c.560_splice	c.e6-1	p.G187_splice		NM_198185	NP_937828			Homo sapiens ovochymase 2 (gene/pseudogene) (OVCH2), mRNA.											cervix(1)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(2)	15				Epithelial(150;7.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.197)		AGGACGCCACCTGAAAAACAG	0.473000														6			3		0	0	0.000248	0	0
DPYS	1807	broad.mit.edu	37	8	105456639	105456639	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:105456639C>T	uc003yly.4	-	3	759	c.630G>A	c.(628-630)ggG>ggA	p.G210G		NM_001385	NP_001376	Q14117	DPYS_HUMAN	Homo sapiens dihydropyrimidinase (DPYS), mRNA.	210					protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			GGCCTGTTATCCCCAGAGCCA	0.502000														29			8		0	0	0.004482	0	0
NDUFAF4	29078	broad.mit.edu	37	6	97339081	97339081	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:97339081G>A	uc003pow.3	-	2	517	c.427C>T	c.(427-429)Cag>Tag	p.Q143*	NDUFAF4_uc003pov.3_Non-coding_Transcript	NM_014165	NP_054884	Q9P032	NDUF4_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 4 (NDUFAF4), nuclear gene encoding mitochondrial protein, mRNA.	143					mitochondrial respiratory chain complex I assembly	mitochondrial membrane	calmodulin binding			large_intestine(5)|lung(3)|ovary(1)|skin(1)	10						TGTTCTAACTGGTATTCCTGC	0.353000														44			10		0	0	0.000978	0	0
MOCS2	4338	broad.mit.edu	37	5	52402945	52402945	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:52402945G>A	uc003joz.3	-	2	474	c.60C>T	c.(58-60)tcC>tcT	p.S20S	MOCS2_uc011cqf.2_Missense_Mutation_p.P83S|LOC257396_uc003jpb.2_5'Flank	NM_004531	NP_004522	O96033	MOC2A_HUMAN	Homo sapiens molybdenum cofactor synthesis 2 (MOCS2), transcript variant 3, mRNA.	0					Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex	nucleotide binding			endometrium(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	5		Lung NSC(810;3.08e-05)|Breast(144;0.0848)				CTAATGGGGGGGATAACGGCA	0.428000														59			20		0	0	0.002780	0	0
PHOX2B	8929	broad.mit.edu	37	4	41747940	41747940	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:41747940G>A	uc003gwf.4	-	2	1189	c.829C>T	c.(829-831)Ccc>Tcc	p.P277S		NM_003924	NP_003915	Q99453	PHX2B_HUMAN	Homo sapiens paired-like homeobox 2b (PHOX2B), mRNA.	277					positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			autonomic_ganglia(7)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	30						ATGGGGCCGGGGCCGGGAGCC	0.731000			"""Mis, F"""		neuroblastoma	neuroblastoma	congenital central hypoventilation syndrome		Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome					24			11		0	0	0.000978	0	0
MEN1	4221	broad.mit.edu	37	11	64575469	64575469	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:64575469C>T	uc001obj.3	-	2	636	c.563G>A	c.(562-564)tGg>tAg	p.W188*	MEN1_uc001obk.3_Nonsense_Mutation_p.W188*|MEN1_uc001obl.3_Splice_Site_p.W183_splice|MEN1_uc001obm.3_Nonsense_Mutation_p.W183*|MEN1_uc001obn.3_Nonsense_Mutation_p.W188*|MEN1_uc001obo.3_Nonsense_Mutation_p.W188*|MEN1_uc001obq.3_Nonsense_Mutation_p.W188*|MEN1_uc001obr.3_Nonsense_Mutation_p.W188*	NM_130800	NP_570716	O00255	MEN1_HUMAN	Homo sapiens multiple endocrine neoplasia I (MEN1), transcript variant e1B, mRNA.	188			W -> R (in MEN1 and parathyroid tumor).|W -> S (in MEN1).		DNA repair|MAPKKK cascade|histone lysine methylation|negative regulation of JNK cascade|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of osteoblast differentiation|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of telomerase activity|negative regulation of transcription from RNA polymerase II promoter|osteoblast development|positive regulation of protein binding|positive regulation of transforming growth factor beta receptor signaling pathway|response to UV|response to gamma radiation|transcription, DNA-dependent	chromatin|cleavage furrow|cytosol|histone methyltransferase complex|nuclear matrix|soluble fraction	R-SMAD binding|Y-form DNA binding|double-stranded DNA binding|four-way junction DNA binding|protein N-terminus binding|protein binding, bridging|transcription regulatory region DNA binding	p.W183*(1)		NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2)	337						AAACACTACCCAGGCATGATC	0.637000			"""D, Mis, N, F, S"""		"""parathyroid tumors, Pancreatic neuroendocrine tumors"""	"""parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid"""			Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated					21			6		0	0	0.001168	0	0
FLNC	2318	broad.mit.edu	37	7	128496609	128496609	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:128496609C>T	uc003vnz.4	+	43	7498	c.7289C>T	c.(7288-7290)gCc>gTc	p.A2430V	FLNC_uc003voa.4_Missense_Mutation_p.A2397V	NM_001458	NP_001449	Q14315	FLNC_HUMAN	Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA.	2430	Interaction with INPPL1.				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						GCGTCCTTTGCCGTGCAGCTG	0.647000														41			29		0	0	0.002836	0	0
FASLG	356	broad.mit.edu	37	1	172634974	172634974	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:172634974C>T	uc001gis.3	+	3	821	c.664C>T	c.(664-666)Ctg>Ttg	p.L222L	FASLG_uc001git.3_3'UTR	NM_000639	NP_000630	P48023	TNFL6_HUMAN	Homo sapiens Fas ligand (TNF superfamily, member 6) (FASLG), mRNA.	222					activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of necroptosis by extracellular signals|induction of necroptosis of activated-T cells|necrotic cell death|negative regulation of angiogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction	extracellular space|integral to plasma membrane	cytokine activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|skin(1)	19						TCCCCAGGATCTGGTGATGAT	0.512000														48			24		0	0	0.007291	0	0
FBLN5	10516	broad.mit.edu	37	14	92347661	92347661	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:92347661C>T	uc010aue.3	-	9	1560	c.1087G>A	c.(1087-1089)Gag>Aag	p.E363K	FBLN5_uc010aud.3_Missense_Mutation_p.E327K|FBLN5_uc001xzx.4_Missense_Mutation_p.E322K	NM_006329	NP_006320	Q9UBX5	FBLN5_HUMAN	Homo sapiens fibulin 5 (FBLN5), mRNA.	322			A -> T (in ARMD3).		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)				AGATAAGGCTCCTCACAGCGG	0.532000														22			16		0	0	0.004990	0	0
PKD1	5310	broad.mit.edu	37	16	2160338	2160338	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:2160338G>A	uc002cos.1	-	14	5039	c.4830C>T	c.(4828-4830)atC>atT	p.I1610I	TCRBV20S1_uc021tak.1_Intron|PKD1_uc002cot.1_Silent_p.I1610I	NM_001009944	NP_001009944	P98161	PKD1_HUMAN	Homo sapiens polycystic kidney disease 1 (autosomal dominant) (PKD1), transcript variant 1, mRNA.	1610	PKD 11.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			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						CAGCCGTGACGATGATATTGA	0.612000														32			15		0	0	0.004007	0	0
MUC15	143662	broad.mit.edu	37	11	26584715	26584715	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:26584715C>T	uc001mqw.3	-	3	1146	c.873G>A	c.(871-873)agG>agA	p.R291R	ANO3_uc010rdr.2_Intron|ANO3_uc001mqt.4_Intron|ANO3_uc010rds.2_Intron|ANO3_uc010rdt.2_Intron|MUC15_uc001mqx.3_Silent_p.R264R|MUC15_uc001mqy.3_Intron	NM_001135091	NP_663625	Q8N387	MUC15_HUMAN	Homo sapiens mucin 15, cell surface associated (MUC15), transcript variant 1, mRNA.	264						extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25						AATCCGTTTTCCTTTTTCCAC	0.388000														62			23		0	0	0.003954	0	0
DNAJC14	85406	broad.mit.edu	37	12	56182877	56182877	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:56182877G>A	uc001sht.3	-	8	538	c.483C>T	c.(481-483)gtC>gtT	p.V161V	DNAJC14_uc009zoa.2_Non-coding_Transcript|DNAJC14_uc001shs.3_Non-coding_Transcript|DNAJC14_uc001shu.2_Silent_p.V844V	NM_033082	NP_149073	Q6Y2X3	DJC14_HUMAN	Homo sapiens SAP domain containing ribonucleoprotein (SARNP), transcript variant 1, mRNA.	0					protein folding|protein transport	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|unfolded protein binding			breast(2)|kidney(1)|large_intestine(8)|lung(7)|ovary(3)|prostate(1)|skin(1)	23						AGATTGAAGAGACATTCAAAC	0.368000														95			33		0	0	0.006999	0	0
AP1M2	10053	broad.mit.edu	37	19	10692025	10692025	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:10692025G>A	uc002mpd.3	-	5	674	c.590C>T	c.(589-591)aCc>aTc	p.T197I	AP1M2_uc002mpc.3_Missense_Mutation_p.T197I	NM_005498	NP_005489	Q9Y6Q5	AP1M2_HUMAN	Homo sapiens adaptor-related protein complex 1, mu 2 subunit (AP1M2), mRNA.	197	MHD.				cellular membrane organization|post-Golgi vesicle-mediated transport|protein targeting|regulation of defense response to virus by virus|vesicle targeting|viral reproduction	Golgi membrane|clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|lysosomal membrane	protein binding			endometrium(4)|large_intestine(1)|lung(1)|ovary(2)|urinary_tract(1)	9			Epithelial(33;1.58e-05)|all cancers(31;6.36e-05)			GAGCTTGATGGTACCGACGAT	0.567000											OREG0025241	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		30			17		0	0	0.004007	0	0
MEP1B	4225	broad.mit.edu	37	18	29790660	29790660	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr18:29790660C>T	uc002kxj.4	+	9	1163	c.1116C>T	c.(1114-1116)acC>acT	p.T372T		NM_005925	NP_005916	Q16820	MEP1B_HUMAN	Homo sapiens meprin A, beta (MEP1B), mRNA.	372	MAM.				digestion|proteolysis	extracellular space|integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						GCAATTTAACCCTTGTGGAAG	0.348000														81			34		0	0	0.002836	0	0
MAT1A	4143	broad.mit.edu	37	10	82039992	82039992	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:82039992G>A	uc001kbw.3	-	4	741	c.486C>T	c.(484-486)gcC>gcT	p.A162A		NM_000429	NP_000420	Q00266	METK1_HUMAN	Homo sapiens methionine adenosyltransferase I, alpha (MAT1A), mRNA.	162					S-adenosylmethionine biosynthetic process|methylation|xenobiotic metabolic process	cytosol	ATP binding|metal ion binding|methionine adenosyltransferase activity			endometrium(4)|large_intestine(7)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26			Colorectal(32;0.229)		L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	CTGCCATCCGGGCGTTGAGCT	0.607000														47			22		0	0	0.002299	0	0
DNAH11	8701	broad.mit.edu	37	7	21675610	21675610	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:21675610G>A	uc003svc.3	+	25	4668	c.4637G>A	c.(4636-4638)cGa>cAa	p.R1546Q		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	1546	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						GAAGTCCAGCGAACTTGGTCT	0.388000									Kartagener syndrome					24			20		0	0	0.008871	0	0
GRID2	2895	broad.mit.edu	37	4	93225819	93225819	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:93225819C>T	uc011cdt.2	+	0	270	c.12C>T	c.(10-12)ttC>ttT	p.F4F	GRID2_uc010ikx.3_Silent_p.F4F|GRID2_uc011cdu.2_Silent_p.F4F	NM_001510	NP_001501	O43424	GRID2_HUMAN	Homo sapiens glutamate receptor, ionotropic, delta 2 (GRID2), mRNA.	4					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)	TGGAAGTTTTCCCCTTTCTCT	0.468000														52			13		0	0	0.003163	0	0
OR7G3	390883	broad.mit.edu	37	19	9236929	9236929	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:9236929C>T	uc010xkl.2	-	0	698	c.698G>A	c.(697-699)gGa>gAa	p.G233E		NM_001001958	NP_001001958	Q8NG95	OR7G3_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily G, member 3 (OR7G3), mRNA.	233					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						TTTATACTTTCCACCAGCTGA	0.438000														111			37		0	0	0.006999	0	0
TTN	7273	broad.mit.edu	37	2	179440668	179440668	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:179440668A>T	uc021vsy.1	-	274	62712	c.62487T>A	c.(62485-62487)ttT>ttA	p.F20829L	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.F14524L|TTN_uc021vta.1_Missense_Mutation_p.F14457L|TTN_uc021vtb.1_Missense_Mutation_p.F14332L|AX746670_uc002umv.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	21756	Fibronectin type-III 51.						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)			TCAGAAGAGTAAATGATTCCG	0.403000														161			83		0	0	0.003610	0	0
BCMO1	53630	broad.mit.edu	37	16	81320998	81320998	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:81320998G>A	uc002fgn.1	+	9	1619	c.1401G>A	c.(1399-1401)aaG>aaA	p.K467K	BCMO1_uc010vnp.1_Silent_p.K398K	NM_017429	NP_059125	Q9HAY6	BCDO1_HUMAN	Homo sapiens beta-carotene 15,15'-monooxygenase 1 (BCMO1), mRNA.	467					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						CAGGTGCCAAGGATGAGGATG	0.532000														34			14		0	0	0.002450	0	0
COG5	10466	broad.mit.edu	37	7	107053059	107053059	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:107053059A>G	uc003vec.2	-	6	1175	c.650T>C	c.(649-651)aTa>aCa	p.I217T	COG5_uc003ved.2_Missense_Mutation_p.I217T|COG5_uc003vee.2_Missense_Mutation_p.I217T	NM_006348	NP_006339	Q9UP83	COG5_HUMAN	Homo sapiens component of oligomeric golgi complex 5 (COG5), transcript variant 1, mRNA.	217					intra-Golgi vesicle-mediated transport|protein transport	Golgi membrane|Golgi transport complex|cytosol|nucleus	protein binding			breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1)	40						AGAAAGATCTATTCCTTGAGA	0.313000														29			11		0	0	0.008291	0	0
AKNA	80709	broad.mit.edu	37	9	117139684	117139684	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:117139684C>T	uc004biq.3	-	1	538	c.403G>A	c.(403-405)Gag>Aag	p.E135K	AKNA_uc004bio.3_5'Flank|AKNA_uc004bip.3_Missense_Mutation_p.E54K|AKNA_uc004bir.3_Missense_Mutation_p.E135K|AKNA_uc004bis.3_Missense_Mutation_p.E135K|AKNA_uc010mve.2_Missense_Mutation_p.E16K|AKNA_uc004biu.1_Intron|AKNA_uc004biv.1_Missense_Mutation_p.E135K|AKNA_uc004biw.1_Missense_Mutation_p.E135K	NM_030767	NP_110394	Q7Z591	AKNA_HUMAN	Homo sapiens AT-hook transcription factor (AKNA), mRNA.	135					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.E135V(1)		breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						CCAGCCTCCTCAACCTCCAGA	0.607000														22			16		0	0	0.004007	0	0
PTPRK	5796	broad.mit.edu	37	6	128294288	128294288	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:128294288C>T	uc003qbk.3	-	28	4512	c.4145G>A	c.(4144-4146)cGa>cAa	p.R1382Q	PTPRK_uc010kfc.3_Missense_Mutation_p.R1389Q|PTPRK_uc003qbj.3_Missense_Mutation_p.R1383Q|PTPRK_uc011ebu.2_Missense_Mutation_p.R1405Q	NM_002844	NP_002835	Q15262	PTPRK_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, K (PTPRK), transcript variant 2, mRNA.	1382	Tyrosine-protein phosphatase 2.				cell migration|cellular response to UV|cellular response to reactive oxygen species|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		CATGCCACTTCGCCCGCCACC	0.433000														67			25		0	0	0.003330	0	0
TBC1D22B	55633	broad.mit.edu	37	6	37254828	37254828	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:37254828C>T	uc003onn.3	+	6	993	c.847C>T	c.(847-849)Cag>Tag	p.Q283*	TBC1D22B_uc010jwt.3_Non-coding_Transcript	NM_017772	NP_060242	Q9NU19	TB22B_HUMAN	Homo sapiens TBC1 domain family, member 22B (TBC1D22B), mRNA.	283	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)	15			OV - Ovarian serous cystadenocarcinoma(102;0.241)			TCCGTTGTTCCAGCAACCACT	0.428000														96			32		0	0	0.003755	0	0
GLB1L2	89944	broad.mit.edu	37	11	134241356	134241356	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:134241356G>A	uc001qhp.3	+	13	1586	c.1398G>A	c.(1396-1398)aaG>aaA	p.K466K	GLB1L2_uc009zdg.1_Non-coding_Transcript	NM_138342	NP_612351	Q8IW92	GLBL2_HUMAN	Homo sapiens galactosidase, beta 1-like 2 (GLB1L2), mRNA.	466					carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41	all_hematologic(175;0.127)	all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844)		Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223)		TGGACTACAAGACAACGAAGA	0.542000														93			26		0	0	0.008361	0	0
C14orf166B	145497	broad.mit.edu	37	14	77297647	77297647	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:77297647G>A	uc001xsx.2	+	2	433	c.319G>A	c.(319-321)Gag>Aag	p.E107K	C14orf166B_uc010asn.1_5'UTR|C14orf166B_uc001xsw.2_Non-coding_Transcript|C14orf166B_uc010aso.1_Non-coding_Transcript|C14orf166B_uc010tvg.1_Non-coding_Transcript|C14orf166B_uc010tvh.1_Non-coding_Transcript	NM_194287	NP_919263	Q0VAA2	CN16B_HUMAN	Homo sapiens chromosome 14 open reading frame 166B (C14orf166B), mRNA.	107										breast(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(1)	18			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0306)		GAACATGGAGGAGTCCTACGT	0.537000														64			33		0	0	0.004878	0	0
MAP1A	4130	broad.mit.edu	37	15	43815394	43815394	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:43815394G>A	uc001zrt.3	+	3	2190	c.1723G>A	c.(1723-1725)Gga>Aga	p.G575R		NM_002373	NP_002364	P78559	MAP1A_HUMAN	Homo sapiens microtubule-associated protein 1A (MAP1A), mRNA.	575						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	AGCTATCCAGGGAACACCACC	0.547000														19			7		0	0	0.003080	0	0
MYO18B	84700	broad.mit.edu	37	22	26228958	26228958	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr22:26228958C>T	uc003abz.1	+	15	3304	c.3054C>T	c.(3052-3054)ccC>ccT	p.P1018P	MYO18B_uc003aca.1_Silent_p.P899P|MYO18B_uc010guy.1_Silent_p.P899P|MYO18B_uc010guz.1_Silent_p.P899P|MYO18B_uc011aka.1_Silent_p.P172P|MYO18B_uc011akb.1_Silent_p.P531P	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	1018	Myosin head-like.					nucleus|sarcomere|unconventional myosin complex	ATP binding|actin binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						ATCAAAATCCCTCTCAGGTAA	0.498000														42			26		0	0	0.005443	0	0
AKAP6	9472	broad.mit.edu	37	14	33015221	33015222	+	Missense_Mutation	DNP	GT	AA	AA			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:33015221_33015222GT>AA	uc001wrq.3	+	3	1532_1533	c.1362_1363GT>AA	c.(1360-1365)cagtct>caAAct	p.S455T	AKAP6_uc010aml.3_Missense_Mutation_p.S452T	NM_004274	NP_004265	Q13023	AKAP6_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 6 (AKAP6), mRNA.	455					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		CTGCCAGCCAGTCTTATGAGTG	0.470000														192			74		0	0	0.004672	0	0
OR10G2	26534	broad.mit.edu	37	14	22102966	22102966	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:22102966G>A	uc010tmc.2	-	0	33	c.33C>T	c.(31-33)gcC>gcT	p.A11A		NM_001005466	NP_001005466	Q8NGC3	O10G2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 2 (OR10G2), mRNA.	11					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)		CTGTCACCACGGCATCCAGCG	0.443000														76			37		0	0	0.002852	0	0
AAK1	22848	broad.mit.edu	37	2	69759215	69759215	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:69759215G>A	uc002sfp.2	-	5	1119	c.614C>T	c.(613-615)cCa>cTa	p.P205L	AAK1_uc010fdk.2_Missense_Mutation_p.P205L|AAK1_uc010yqm.1_Missense_Mutation_p.P205L	NM_014911	NP_055726	Q2M2I8	AAK1_HUMAN	Homo sapiens AP2 associated kinase 1 (AAK1), mRNA.	205	Protein kinase.					coated pit|mitochondrion|plasma membrane	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)	17						CTCAGTTTGTGGATTCTGGAA	0.428000														85			22		0	0	0.001882	0	0
LNPEP	4012	broad.mit.edu	37	5	96364151	96364151	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:96364151C>T	uc003kmv.1	+	17	3506	c.2992C>T	c.(2992-2994)Cgt>Tgt	p.R998C	LNPEP_uc003kmw.1_Missense_Mutation_p.R984C	NM_005575	NP_787116	Q9UIQ6	LCAP_HUMAN	Homo sapiens leucyl/cystinyl aminopeptidase (LNPEP), transcript variant 1, mRNA.	998					cell-cell signaling|female pregnancy|proteolysis	extracellular region|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	34		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.072)		CTTCCGGCTTCGTTGTGTCCA	0.448000														68			46		0	0	0.003610	0	0
PNPLA6	10908	broad.mit.edu	37	19	7623821	7623821	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:7623821G>A	uc010xjq.2	+	29	3753	c.3513G>A	c.(3511-3513)ggG>ggA	p.G1171G	PNPLA6_uc002mgq.2_Silent_p.G1123G|PNPLA6_uc010xjp.2_Silent_p.G1096G|PNPLA6_uc002mgr.2_Silent_p.G1123G|PNPLA6_uc002mgs.3_Silent_p.G1161G	NM_001166111	NP_001159583	Q8IY17	PLPL6_HUMAN	Homo sapiens patatin-like phospholipase domain containing 6 (PNPLA6), transcript variant 1, mRNA.	1162					cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						GCACCTACGGGGACAGCCTGT	0.637000														20			7		0	0	0.003080	0	0
RPL30	6156	broad.mit.edu	37	8	99057237	99057237	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:99057237G>A	uc003yif.3	-	2	216	c.101C>T	c.(100-102)aCt>aTt	p.T34I	RPL30_uc010mbk.2_Missense_Mutation_p.T34I|SNORA72_uc003yig.1_5'Flank	NM_000989	NP_000980	P62888	RL30_HUMAN	Homo sapiens ribosomal protein L30 (RPL30), mRNA.	34					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	RNA binding|structural constituent of ribosome			kidney(2)|lung(4)|skin(1)	7	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.192)			CATCTTCAGAGTCTGCTTGTA	0.463000														130			61		0	0	0.003610	0	0
NLRP4	147945	broad.mit.edu	37	19	56369100	56369100	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:56369100A>T	uc002qmd.4	+	2	763	c.341A>T	c.(340-342)aAg>aTg	p.K114M	NLRP4_uc002qmf.3_Missense_Mutation_p.K39M|NLRP4_uc010etf.3_5'UTR	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	Homo sapiens NLR family, pyrin domain containing 4 (NLRP4), mRNA.	114							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)		TGGTCCAGCAAGTCTGTCACT	0.473000														75			8		0	0	0.006214	0	0
ZNF57	126295	broad.mit.edu	37	19	2916978	2916978	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:2916978C>T	uc002lwr.3	+	3	507	c.359C>T	c.(358-360)gCc>gTc	p.A120V	ZNF57_uc010xha.2_Missense_Mutation_p.A88V	NM_173480	NP_775751	Q68EA5	ZNF57_HUMAN	Homo sapiens zinc finger protein 57 (ZNF57), mRNA.	120					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				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)|GBM - Glioblastoma multiforme(1328;0.00161)|STAD - Stomach adenocarcinoma(1328;0.18)		TATGGAGAAGCCATCCATCAA	0.373000														46			23		0	0	0.002299	0	0
PTAFR	5724	broad.mit.edu	37	1	28477119	28477119	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:28477119G>A	uc009vte.3	-	2	749	c.414C>T	c.(412-414)tcC>tcT	p.S138S	PTAFR_uc021ojz.1_Silent_p.S138S|PTAFR_uc001bpl.3_Silent_p.S138S|PTAFR_uc001bpm.4_Silent_p.S138S|PTAFR_uc021oka.1_Silent_p.S138S	NM_001164721	NP_001158195	P25105	PTAFR_HUMAN	Homo sapiens platelet-activating factor receptor (PTAFR), transcript variant 1, mRNA.	138					chemotaxis|inflammatory response|interferon-gamma-mediated signaling pathway|phosphatidylinositol-mediated signaling	integral to plasma membrane|nucleus	phospholipid binding|platelet activating factor receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|stomach(1)	15		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00715)|all_lung(284;0.00732)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)		UCEC - Uterine corpus endometrioid carcinoma (279;0.215)|OV - Ovarian serous cystadenocarcinoma(117;6e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|STAD - Stomach adenocarcinoma(196;0.00678)|READ - Rectum adenocarcinoma(331;0.0649)		AGATGACCAAGGACAAAGAGA	0.577000														35			22		0	0	0.002299	0	0
ZNF600	162966	broad.mit.edu	37	19	53269181	53269181	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:53269181A>T	uc002qab.4	-	2	2114	c.1828T>A	c.(1828-1830)Tac>Aac	p.Y610N	ZNF600_uc021uyz.1_Missense_Mutation_p.Y610N	NM_198457	NP_940859	Q6ZNG1	ZN600_HUMAN	Homo sapiens zinc finger protein 600 (ZNF600), mRNA.	610					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			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)		TTACACTTGTAAGGTTTCTCT	0.383000														86			34		0	0	0.002836	0	0
GABBR2	9568	broad.mit.edu	37	9	101258772	101258772	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:101258772G>A	uc004ays.3	-	3	1115	c.655C>T	c.(655-657)Ctg>Ttg	p.L219L		NM_005458	NP_005449	O75899	GABR2_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) B receptor, 2 (GABBR2), mRNA.	219					negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity		NOTCH1_ENST00000277541/GABBR2(2)	breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	TCGCCATACAGAACTCCAGTC	0.562000														51			25		0	0	0.003330	0	0
SYNJ1	8867	broad.mit.edu	37	21	34003525	34003525	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr21:34003525G>A	uc002yqh.2	-	31	4619	c.4619C>T	c.(4618-4620)tCa>tTa	p.S1540L	SYNJ1_uc011ads.1_3'UTR|SYNJ1_uc002yqf.2_3'UTR|SYNJ1_uc002yqg.2_Missense_Mutation_p.S1454L|SYNJ1_uc002yqi.2_3'UTR|SYNJ1_uc002yqe.4_Missense_Mutation_p.S126L	NM_003895	NP_003886	O43426	SYNJ1_HUMAN	Homo sapiens synaptojanin 1 (SYNJ1), transcript variant 1, mRNA.	1501	Poly-Pro.|Pro-rich.						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						CAGTAAGTCTGAACAAGCTGA	0.438000														84			9		0	0	0.006214	0	0
AFF4	27125	broad.mit.edu	37	5	132232703	132232703	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:132232703G>A	uc003kyd.3	-	10	2027	c.1619C>T	c.(1618-1620)tCa>tTa	p.S540L	AFF4_uc011cxk.2_Missense_Mutation_p.S218L|AFF4_uc003kye.1_Missense_Mutation_p.S540L	NM_014423	NP_055238	Q9UHB7	AFF4_HUMAN	Homo sapiens AF4/FMR2 family, member 4 (AFF4), mRNA.	540					transcription from RNA polymerase II promoter	mitochondrion|nucleolus	protein binding|sequence-specific DNA binding transcription factor activity	p.G539E(1)	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)			CCCACTTTCTGATCCCTTTTG	0.502000														84			44		0	0	0.003610	0	0
NDRG4	65009	broad.mit.edu	37	16	58545466	58545466	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:58545466G>A	uc002enm.3	+	15	1503	c.1162G>A	c.(1162-1164)Gag>Aag	p.E388K	NDRG4_uc002enk.3_Missense_Mutation_p.E368K|NDRG4_uc010vif.2_Missense_Mutation_p.E368K|NDRG4_uc002eno.3_Missense_Mutation_p.E349K|NDRG4_uc010cdk.3_Missense_Mutation_p.E354K|NDRG4_uc010vig.2_Missense_Mutation_p.E366K|NDRG4_uc010vih.2_Missense_Mutation_p.E281K|NDRG4_uc010vii.2_Missense_Mutation_p.E354K|NDRG4_uc002enp.3_Missense_Mutation_p.E336K|NDRG4_uc002enq.1_Intron	NM_001130487	NP_075061	Q9ULP0	NDRG4_HUMAN	Homo sapiens NDRG family member 4 (NDRG4), transcript variant 2, mRNA.	349					cell differentiation|cell growth|multicellular organismal development|response to stress	cytoplasm				breast(1)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	11						CCACACCATGGAGGTGTCCTG	0.627000														41			13		0	0	0.002450	0	0
DHX36	170506	broad.mit.edu	37	3	154001041	154001041	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:154001041C>T	uc003ezy.4	-	19	2393	c.2312G>A	c.(2311-2313)cGa>cAa	p.R771Q	DHX36_uc010hvq.3_Missense_Mutation_p.R757Q|DHX36_uc003ezz.4_Missense_Mutation_p.R742Q	NM_020865	NP_065916	Q9H2U1	DHX36_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 36 (DHX36), transcript variant 1, mRNA.	771						cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			GAAACCACGTCGCCTAGCCTC	0.388000														77			42		0	0	0.002852	0	0
CCDC150	284992	broad.mit.edu	37	2	197595583	197595583	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:197595583G>A	uc002utp.1	+	26	3118	c.2983_splice	c.e26-1	p.E995_splice	CCDC150_uc010zgs.1_Splice_Site_p.E642_splice	NM_001080539	NP_001074008	Q8NCX0	CC150_HUMAN	Homo sapiens coiled-coil domain containing 150 (CCDC150), mRNA.	995										breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						ACATTTTCAGGAATTGGAAGA	0.368000														9			10		0	0	0.008291	0	0
FAM47C	442444	broad.mit.edu	37	X	37026872	37026872	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chrX:37026872C>T	uc004ddl.2	+	0	441	c.389C>T	c.(388-390)cCc>cTc	p.P130L		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	Homo sapiens family with sequence similarity 47, member C (FAM47C), mRNA.	130										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						ACCAAGCATCCCTTGGCCATG	0.572000														13			25		0	0	0.001786	0	0
DMRT2	10655	broad.mit.edu	37	9	1056231	1056231	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:1056231C>T	uc003zha.3	+	3	844	c.644C>T	c.(643-645)cCa>cTa	p.P215L	DMRT2_uc003zhb.4_3'UTR|DMRT2_uc003zgy.4_Missense_Mutation_p.P59L|DMRT2_uc011llt.2_3'UTR|DMRT2_uc022bcw.1_3'UTR|DMRT2_uc011llv.2_Missense_Mutation_p.P215L	NM_181872	NP_870987	Q9Y5R5	DMRT2_HUMAN	Homo sapiens doublesex and mab-3 related transcription factor 2 (DMRT2), transcript variant 3, mRNA.	215					male gonad development|sex determination	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(1)|prostate(2)	4		all_lung(10;1.49e-09)|Lung NSC(10;1.86e-09)		Lung(218;0.0195)|GBM - Glioblastoma multiforme(50;0.0388)		CGCCCCATTCCAGCGGAGACT	0.448000														65			38		0	0	0.005524	0	0
GLYATL2	219970	broad.mit.edu	37	11	58602012	58602012	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:58602012G>A	uc001nnd.4	-	5	906	c.775C>T	c.(775-777)Cat>Tat	p.H259Y	GLYATL2_uc009ymq.3_Missense_Mutation_p.H259Y	NM_145016	NP_659453	Q8WU03	GLYL2_HUMAN	Homo sapiens glycine-N-acyltransferase-like 2 (GLYATL2), mRNA.	259						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)	TCTGCCACATGGAAATAAAAT	0.403000														65			17		0	0	0.007413	0	0
EFHB	151651	broad.mit.edu	37	3	19940269	19940269	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:19940269C>T	uc003cbl.4	-	8	1766	c.1570_splice	c.e8+1	p.G524_splice	EFHB_uc003cbm.3_Splice_Site_p.G394_splice	NM_144715	NP_653316	Q8N7U6	EFHB_HUMAN	Homo sapiens EF-hand domain family, member B (EFHB), mRNA.	524					signal transduction	proteinaceous extracellular matrix	calcium ion binding			breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1)	26						TGTATATTTACCATATTCCTC	0.378000														26			24		0	0	0.003330	0	0
HYDIN	54768	broad.mit.edu	37	16	70972645	70972645	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:70972645C>T	uc002ezr.3	-	43	7015	c.6864G>A	c.(6862-6864)aaG>aaA	p.K2288K		NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	2289										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)				CAAGAGCTCCCTTGTGCTTGC	0.517000														12			4		0	0	0.001168	0	0
CSPP1	79848	broad.mit.edu	37	8	68007875	68007876	+	Nonsense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:68007875_68007876CC>TT	uc003xxi.3	+	7	994_995	c.963_964CC>TT	c.(961-966)gaccaa>gaTTaa	p.Q322*	CSPP1_uc003xxg.1_Nonsense_Mutation_p.Q314*|CSPP1_uc003xxh.1_Non-coding_Transcript|CSPP1_uc003xxj.3_Nonsense_Mutation_p.Q287*|CSPP1_uc003xxk.3_5'UTR	NM_024790	NP_079066	Q1MSJ5	CSPP1_HUMAN	Homo sapiens centrosome and spindle pole associated protein 1 (CSPP1), mRNA.	322						centrosome|microtubule|spindle				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			ATAGACCAGACCAAGATCCTGA	0.361000														48			12		0	0	0.004672	0	0
IKBKB	3551	broad.mit.edu	37	8	42176873	42176873	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:42176873G>A	uc003xow.2	+	13	1636	c.1450G>A	c.(1450-1452)Gat>Aat	p.D484N	IKBKB_uc010lxh.2_Missense_Mutation_p.D379N|IKBKB_uc011lco.2_Non-coding_Transcript|IKBKB_uc003xox.2_Missense_Mutation_p.D205N|IKBKB_uc010lxj.2_Missense_Mutation_p.D261N|IKBKB_uc011lcp.2_Non-coding_Transcript|IKBKB_uc011lcq.2_Missense_Mutation_p.D482N|IKBKB_uc010lxi.2_Non-coding_Transcript|IKBKB_uc011lcr.2_Missense_Mutation_p.D425N	NM_001556	NP_001547	O14920	IKKB_HUMAN	Homo sapiens inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta (IKBKB), transcript variant 1, mRNA.	484					MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T cell receptor signaling pathway|Toll signaling pathway|anti-apoptosis|innate immune response|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of 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	CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft	ATP binding|IkappaB kinase activity|identical protein binding			breast(4)|lung(1)|ovary(2)|skin(1)	8	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		Arsenic trioxide(DB01169)|Auranofin(DB00995)	GGCCAAGTTGGATTTCTTCAA	0.473000											OREG0018747	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		57			23		0	0	0.001882	0	0
FCGR2C	9103	broad.mit.edu	37	1	161569653	161569653	+	RNA	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:161569653G>A	uc021pdi.1	+	6		c.1131G>A				NM_201563				Homo sapiens Fc fragment of IgG, low affinity IIc, receptor for (CD32) (gene/pseudogene) (FCGR2C), mRNA.											lung(2)	2	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			ACAAAAAGAGGGGAATtgtta	0.393000														36			17		0	0	0.004007	0	0
GIT1	28964	broad.mit.edu	37	17	27902103	27902103	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:27902103G>A	uc002heg.2	-	19	2308	c.2094C>T	c.(2092-2094)ttC>ttT	p.F698F	GIT1_uc002hef.2_Silent_p.F689F|GIT1_uc010wbg.1_Silent_p.F675F	NM_001085454	NP_001078923	Q9Y2X7	GIT1_HUMAN	Homo sapiens G protein-coupled receptor kinase interacting ArfGAP 1 (GIT1), transcript variant 1, mRNA.	689	Interaction with PXN and TGFB1I1 (By similarity).				regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|focal adhesion	ARF GTPase activator activity|protein binding|zinc ion binding			large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				READ - Rectum adenocarcinoma(3;0.0419)|Colorectal(3;0.069)		GTACCTTTGGGAAGAGGGAGG	0.607000														27			12		0	0	0.002450	0	0
FBXO24	26261	broad.mit.edu	37	7	100198468	100198468	+	Silent	SNP	G	C	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:100198468G>C	uc011kjz.1	+	9	1871	c.1803G>C	c.(1801-1803)ctG>ctC	p.L601L	FBXO24_uc003uvm.1_Silent_p.L563L|FBXO24_uc003uvn.1_Silent_p.L201L|LOC100129845_uc011kjy.2_Non-coding_Transcript|FBXO24_uc011kka.1_Silent_p.L551L|LOC100129845_uc022air.1_Non-coding_Transcript|PCOLCE_uc011kkb.1_5'Flank|PCOLCE_uc003uvo.3_5'Flank	NM_012172	NP_036304	O75426	FBX24_HUMAN	Homo sapiens F-box protein 24 (FBXO24), transcript variant 3, mRNA.	563						ubiquitin ligase complex	ubiquitin-protein ligase activity			NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					TGGACATGCTGCAGAGGGCTG	0.632000														55			12		0	0	0.001855	0	0
ALPK2	115701	broad.mit.edu	37	18	56149252	56149252	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr18:56149252T>G	uc002lhj.4	-	12	6530	c.6316A>C	c.(6316-6318)Aac>Cac	p.N2106H		NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN	Homo sapiens alpha-kinase 2 (ALPK2), mRNA.	2106	Alpha-type protein kinase.						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						ATGGAACAGTTGCCTTTAAAT	0.373000														74			32		0	0	0.004289	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84561589	84561589	+	Silent	SNP	A	G	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:84561589A>G	uc002bjz.4	+	12	1640	c.1416A>G	c.(1414-1416)caA>caG	p.Q472Q	ADAMTSL3_uc010bmt.1_Silent_p.Q472Q	NM_207517	NP_997400	P82987	ATL3_HUMAN	Homo sapiens ADAMTS-like 3 (ADAMTSL3), mRNA.	472						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			AGGTTATGCAAACTTGTAATC	0.423000														32			17		0	0	0.007413	0	0
MPP3	4356	broad.mit.edu	37	17	41891596	41891596	+	Silent	SNP	G	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:41891596G>T	uc002ieh.3	-	12	1479	c.1218C>A	c.(1216-1218)ccC>ccA	p.P406P	MPP3_uc002iei.4_Silent_p.P381P|MPP3_uc002iej.3_Non-coding_Transcript	NM_001932	NP_001923	Q13368	MPP3_HUMAN	Homo sapiens membrane protein, palmitoylated 3 (MAGUK p55 subfamily member 3) (MPP3), transcript variant 1, mRNA.	381	Guanylate kinase-like.				signal transduction	cell surface|integral to plasma membrane	guanylate kinase activity			endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Breast(137;0.00394)		BRCA - Breast invasive adenocarcinoma(366;0.119)		GCCGCTCTCCGGGCTGGTGTT	0.622000														97			40		5.78141e-17	7.02919e-17	0.003214	1	0
GABRE	2564	broad.mit.edu	37	X	151131055	151131055	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chrX:151131055C>T	uc004ffi.3	-	3	457	c.403G>A	c.(403-405)Gac>Aac	p.D135N	GABRE_uc011myd.2_Non-coding_Transcript|GABRE_uc011mye.1_Non-coding_Transcript|MIR452_uc022cgx.1_5'Flank	NM_004961	NP_004952	P78334	GBRE_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, epsilon (GABRE), mRNA.	135					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					TCAAAGGTGTCGTTGTAACAG	0.483000														19			35		0	0	0.003271	0	0
SLC24A4	123041	broad.mit.edu	37	14	92953125	92953125	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:92953125G>A	uc001yak.3	+	14	1560	c.1537_splice	c.e14+1	p.G513_splice	SLC24A4_uc001yai.3_Splice_Site_p.G449_splice|SLC24A4_uc010twm.2_Splice_Site_p.G494_splice|SLC24A4_uc010auj.3_Splice_Site_p.G385_splice|SLC24A4_uc010twn.2_Splice_Site_p.G269_splice|SLC24A4_uc001yan.3_Splice_Site_p.G207_splice	NM_153646	NP_705932	Q8NFF2	NCKX4_HUMAN	Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 4 (SLC24A4), transcript variant 1, mRNA.	513						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(20)|ovary(2)|skin(1)	36		all_cancers(154;0.0347)|all_epithelial(191;0.163)		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)		GCGAGACAAGGTATGGATTAT	0.532000														13			4		0	0	0.000602	0	0
DNAH17	8632	broad.mit.edu	37	17	76475110	76475110	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:76475110G>A	uc010dhp.2	-	50	8114	c.7989C>T	c.(7987-7989)ttC>ttT	p.F2663F		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)			GCAGTACCTGGAAAATATTGG	0.478000														26			7		0	0	0.003080	0	0
CBFB	865	broad.mit.edu	37	16	67116155	67116155	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:67116155C>T	uc002era.3	+	4	700	c.439C>T	c.(439-441)Cgg>Tgg	p.R147W	CBFB_uc002erb.3_Missense_Mutation_p.R147W|CBFB_uc010vja.2_Intron	NM_001755	NP_001746	Q13951	PEBB_HUMAN	Homo sapiens core-binding factor, beta subunit (CBFB), transcript variant 2, mRNA.	147					transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(3)|large_intestine(1)	4		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00189)|Epithelial(162;0.00755)|all cancers(182;0.066)		TGAAGAGGCTCGGAGAAGGAC	0.408000			T	MYH11	AML									40			15		0	0	0.003163	0	0
PDE11A	50940	broad.mit.edu	37	2	178494270	178494270	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:178494270C>T	uc002ulq.3	-	19	2985	c.2667G>A	c.(2665-2667)gtG>gtA	p.V889V	PDE11A_uc002ulp.3_Silent_p.V445V|PDE11A_uc002ulr.3_Silent_p.V639V|PDE11A_uc010zfd.2_Silent_p.V80V|PDE11A_uc002uls.1_Silent_p.V531V|PDE11A_uc002ult.1_Silent_p.V639V|PDE11A_uc002ulu.1_Silent_p.V531V	NM_016953	NP_001070664	Q9HCR9	PDE11_HUMAN	Homo sapiens phosphodiesterase 11A (PDE11A), transcript variant 4, mRNA.	889	Catalytic (By similarity).				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding	p.V889V(2)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)			GCTTCAGTTTCACGTTGACCT	0.453000									Primary Pigmented Nodular Adrenocortical Disease, Familial					80			39		0	0	0.008740	0	0
PPP1R13L	10848	broad.mit.edu	37	19	45901270	45901270	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:45901270G>A	uc002pbn.3	-	2	268	c.191C>T	c.(190-192)cCt>cTt	p.P64L	PPP1R13L_uc002pbo.3_Missense_Mutation_p.P64L|PPP1R13L_uc002pbp.2_Missense_Mutation_p.P64L	NM_006663	NP_006654	Q8WUF5	IASPP_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 13 like (PPP1R13L), transcript variant 2, mRNA.	64	Pro-rich.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	transcription corepressor activity|transcription factor binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0182)		TACCCTAGAAGGGGGTCCGGC	0.617000														24			20		0	0	0.002780	0	0
KIF5C	3800	broad.mit.edu	37	2	149837950	149837950	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:149837950G>A	uc010zbu.2	+	13	1839	c.1444G>A	c.(1444-1446)Gat>Aat	p.D482N	KIF5C_uc002tws.1_Non-coding_Transcript|KIF5C_uc002twt.3_Missense_Mutation_p.D34N	NM_004522	NP_004513	O60282	KIF5C_HUMAN	Homo sapiens kinesin family member 5C (KIF5C), mRNA.	482					microtubule-based movement|organelle organization	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(221;0.108)		GGCAGCCAAGGATGAGGTGAA	0.498000														11			5		0	0	0.000602	0	0
BIRC6	57448	broad.mit.edu	37	2	32640055	32640055	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:32640055T>A	uc010ezu.3	+	9	1830	c.1696T>A	c.(1696-1698)Tgt>Agt	p.C566S		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	Homo sapiens baculoviral IAP repeat containing 6 (BIRC6), mRNA.	566					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					TCCTTTTCCATGTTTATTAGC	0.393000														33			10		0	0	0.006214	0	0
MUC16	94025	broad.mit.edu	37	19	9083542	9083542	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:9083542G>A	uc002mkp.3	-	0	8477	c.8273C>T	c.(8272-8274)tCc>tTc	p.S2758F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	2758	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						GAATACAAGGGAACCAGTAGT	0.488000														37			32		0	0	0.002836	0	0
SVEP1	79987	broad.mit.edu	37	9	113194893	113194893	+	Silent	SNP	A	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:113194893A>T	uc010mtz.3	-	30	5419	c.5082T>A	c.(5080-5082)ccT>ccA	p.P1694P		NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA.	1694	Sushi 6.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						TCTCCAAAGGAGGTGGCACCC	0.448000														65			33		0	0	0.002222	0	0
IVL	3713	broad.mit.edu	37	1	152882375	152882375	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:152882375G>A	uc021ozl.1	+	0	102	c.102G>A	c.(100-102)atG>atA	p.M34I	IVL_uc001fau.3_Missense_Mutation_p.M34I	NM_005547	NP_005538	P07476	INVO_HUMAN	Homo sapiens involucrin (IVL), mRNA.	34					isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine|keratinization|response to UV-B	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity			breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			AGGAGCAAATGAAACAGCCAA	0.557000														43			15		0	0	0.003163	0	0
DSG2	1829	broad.mit.edu	37	18	29122510	29122510	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr18:29122510C>A	uc002kwu.4	+	13	2217	c.2029C>A	c.(2029-2031)Caa>Aaa	p.Q677K	LOC100652770_uc002kwv.4_Intron	NM_001943	NP_001934	Q14126	DSG2_HUMAN	Homo sapiens desmoglein 2 (DSG2), mRNA.	677					cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			GCCAGTGGATCAAGGGGGCAG	0.498000														45			23		6.32553e-13	7.67648e-13	0.004656	1	0
SLC8A3	6547	broad.mit.edu	37	14	70527656	70527656	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:70527656C>T	uc001xly.3	-	3	2539	c.1785_splice	c.e3-1	p.V595_splice	SLC8A3_uc001xlv.3_Splice_Site|SLC8A3_uc001xlu.3_Intron|SLC8A3_uc001xlw.3_Splice_Site_p.V595_splice|SLC8A3_uc001xlx.3_Intron|SLC8A3_uc001xlz.3_Splice_Site_p.V595_splice|SLC8A3_uc010ara.3_Intron|SLC8A3_uc001xma.2_Intron	NM_183002	NP_892114	P57103	NAC3_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 3 (SLC8A3), transcript variant c, mRNA.	595	Calx-beta 2.				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		TTATGGTTTTCCTGTAGGGAC	0.458000														36			12		0	0	0.001368	0	0
DAK	26007	broad.mit.edu	37	11	61106612	61106612	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:61106612C>T	uc001nre.3	+	3	525	c.268C>T	c.(268-270)Ctg>Ttg	p.L90L	DDB1_uc010rlf.1_Intron|DAK_uc009ynm.1_Silent_p.L20L	NM_015533	NP_056348	Q3LXA3	DHAK_HUMAN	Homo sapiens dihydroxyacetone kinase 2 homolog (S. cerevisiae) (DAK), mRNA.	90	DhaK.				glycerol metabolic process	cytosol	ATP binding|FAD-AMP lyase (cyclizing) activity|glycerone kinase activity|metal ion binding			NS(1)|breast(3)|endometrium(3)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	23						GGGCAGCATCCTGGCAGCCAT	0.657000														32			18		0	0	0.008871	0	0
PLCB1	23236	broad.mit.edu	37	20	8770196	8770196	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr20:8770196C>T	uc002wnb.3	+	29	3313	c.3310C>T	c.(3310-3312)Cag>Tag	p.Q1104*	PLCB1_uc002wna.3_Nonsense_Mutation_p.Q1104*	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN	Homo sapiens phospholipase C, beta 1 (phosphoinositide-specific) (PLCB1), transcript variant 1, mRNA.	1104					CD24 biosynthetic process|G1 phase|G2/M transition of mitotic cell cycle|activation of meiosis involved in egg activation|cerebral cortex development|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of JNK cascade|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of G-protein coupled receptor protein signaling pathway|regulation of fertilization|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	GTPase activator activity|calcium ion binding|calmodulin binding|enzyme binding|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						GTCATATATCCAGGAAGTGGT	0.423000														74			50		0	0	0.003610	0	0
TRPM3	80036	broad.mit.edu	37	9	73167918	73167918	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:73167918C>T	uc004aid.3	-	22	3624	c.3380G>A	c.(3379-3381)tGg>tAg	p.W1127*	TRPM3_uc004ahu.3_Nonsense_Mutation_p.W969*|TRPM3_uc004ahv.3_Nonsense_Mutation_p.W929*|TRPM3_uc004ahw.3_Nonsense_Mutation_p.W999*|TRPM3_uc004ahx.3_Nonsense_Mutation_p.W986*|TRPM3_uc004ahy.3_Nonsense_Mutation_p.W989*|TRPM3_uc004ahz.3_Nonsense_Mutation_p.W976*|TRPM3_uc004aia.3_Nonsense_Mutation_p.W974*|TRPM3_uc004aib.3_Nonsense_Mutation_p.W964*|TRPM3_uc004aic.3_Nonsense_Mutation_p.W1127*	NM_001007471	NP_066003	Q9HCF6	TRPM3_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 3 (TRPM3), transcript variant 9, mRNA.	1152						integral to membrane	calcium channel activity			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						CTGAAACTTCCAGACTTGGTT	0.413000														91			47		0	0	0.003610	0	0
NBR1	4077	broad.mit.edu	37	17	41343547	41343548	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:41343547_41343548CC>TT	uc010whv.2	+	9	1105_1106	c.1022_1023CC>TT	c.(1021-1023)ccc>cTT	p.P341L	NBR1_uc010czd.3_Missense_Mutation_p.P341L|NBR1_uc010diz.3_Missense_Mutation_p.P341L|NBR1_uc010whu.2_Missense_Mutation_p.P341L|NBR1_uc010whw.2_Missense_Mutation_p.P320L|NBR1_uc010whx.1_Missense_Mutation_p.P150L	NM_005899	NP_114068	Q14596	NBR1_HUMAN	Homo sapiens neighbor of BRCA1 gene 1 (NBR1), transcript variant 1, mRNA.	341					macroautophagy|protein oligomerization	autophagic vacuole|cytoplasmic vesicle|cytosol|late endosome|lysosome|sarcomere	ubiquitin binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	24		Breast(137;0.00086)		BRCA - Breast invasive adenocarcinoma(366;0.0934)		CTCCAGAGCCCCAAGTCTCCTT	0.485000														9			7		0	0	0.004672	0	0
CDK14	5218	broad.mit.edu	37	7	90675251	90675251	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:90675251C>T	uc003uky.2	+	10	1303	c.1081C>T	c.(1081-1083)Cat>Tat	p.H361Y	CDK14_uc003ukz.1_Missense_Mutation_p.H343Y|CDK14_uc010les.1_Missense_Mutation_p.H315Y|CDK14_uc011khl.1_Missense_Mutation_p.H232Y	NM_012395	NP_036527	O94921	CDK14_HUMAN	Homo sapiens cyclin-dependent kinase 14 (CDK14), mRNA.	361	Protein kinase.				G2/M transition of mitotic cell cycle|Wnt receptor signaling pathway|cell division|regulation of canonical Wnt receptor signaling pathway	cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane	ATP binding|cyclin binding|cyclin-dependent protein kinase activity	p.H343Y(1)		breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(12)|ovary(1)|skin(4)	32						GCCTGGAGTTCATTCTTTACC	0.393000														37			9		0	0	0.008291	0	0
MAGEA12	4111	broad.mit.edu	37	X	151896310	151896310	+	RNA	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chrX:151896310C>T	uc004fgb.3	-	3		c.469G>A						P43365	MAGAC_HUMAN	Homo sapiens melanoma antigen family A, 12 (MAGEA12), transcript variant 3, mRNA.											breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					CTGGAACTTCCTTGACGGGTC	0.537000														20			20		0	0	0.003330	0	0
CENPE	1062	broad.mit.edu	37	4	104080310	104080310	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:104080310G>C	uc003hxb.1	-	21	2548	c.2458C>G	c.(2458-2460)Caa>Gaa	p.Q820E	CENPE_uc003hxc.1_Missense_Mutation_p.Q795E	NM_001813	NP_001804	Q02224	CENPE_HUMAN	Homo sapiens centromere protein E, 312kDa (CENPE), mRNA.	820					blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TTGAAATTTTGGAATTCTTGA	0.343000														49			24		0	0	0.003954	0	0
LRMP	4033	broad.mit.edu	37	12	25254256	25254256	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:25254256G>A	uc001rgh.3	+	14	1980	c.886G>A	c.(886-888)Gat>Aat	p.D296N	LRMP_uc010sja.2_Missense_Mutation_p.D296N|LRMP_uc010sjc.2_Missense_Mutation_p.D296N|LRMP_uc001rgi.3_Non-coding_Transcript|LRMP_uc010sjb.2_Missense_Mutation_p.D243N|LRMP_uc010sjd.2_Missense_Mutation_p.D243N	NM_006152	NP_006143	Q12912	LRMP_HUMAN	Homo sapiens lymphoid-restricted membrane protein (LRMP), transcript variant 1, mRNA.	352					vesicle fusion|vesicle targeting	endoplasmic reticulum membrane|integral to plasma membrane				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Colorectal(261;0.11)					TCTTGAAGATGATGGTAATAA	0.313000														32			15		0	0	0.004990	0	0
CCDC69	26112	broad.mit.edu	37	5	150578589	150578589	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:150578589G>A	uc003ltq.3	-	3	411	c.288C>T	c.(286-288)gtC>gtT	p.V96V	CCDC69_uc010jhu.3_5'UTR|CCDC69_uc011dcq.2_Non-coding_Transcript	NM_015621	NP_056436	A6NI79	CCD69_HUMAN	Homo sapiens coiled-coil domain containing 69 (CCDC69), mRNA.	96										haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(2)|stomach(1)	9		Medulloblastoma(196;0.091)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTCCTTCCAGGACCCTTTGCT	0.582000														79			30		0	0	0.005524	0	0
ZNF283	284349	broad.mit.edu	37	19	44352504	44352504	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:44352504C>T	uc002oxr.4	+	6	2019	c.1751C>T	c.(1750-1752)tCa>tTa	p.S584L	ZNF283_uc002oxp.4_Missense_Mutation_p.S445L	NM_181845	NP_862828	Q8N7M2	ZN283_HUMAN	Homo sapiens zinc finger protein 283 (ZNF283), mRNA.	584					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(3)|lung(4)	8		Prostate(69;0.0352)				AGTTGGGGTTCAAGCCTAGTT	0.418000														45			13		0	0	0.001368	0	0
RBP5	83758	broad.mit.edu	37	12	7280959	7280959	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:7280959G>A	uc001qsq.3	-	1	224	c.129C>T	c.(127-129)atC>atT	p.I43I	CLSTN3_uc001qsr.3_5'Flank	NM_031491	NP_113679	P82980	RET5_HUMAN	Homo sapiens retinol binding protein 5, cellular (RBP5), mRNA.	43						cytoplasm	retinal binding|retinol binding|transporter activity			autonomic_ganglia(1)|endometrium(4)|large_intestine(1)|lung(3)|ovary(1)	10					Vitamin A(DB00162)	CCTGGTGTTCGATCTCCTTGT	0.582000														36			20		0	0	0.003954	0	0
OBSCN	84033	broad.mit.edu	37	1	228437821	228437821	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:228437821C>T	uc009xez.1	+	13	4233	c.4189C>T	c.(4189-4191)Cga>Tga	p.R1397*	OBSCN_uc001hsn.3_Nonsense_Mutation_p.R1397*	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	1397	Ig-like 14.			R -> C (in Ref. 1; CAC85746).|RM -> HV (in Ref. 1; CAC85749).	apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding	p.R1397Q(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CTCGAAAGTTCGAATGGAGGC	0.672000														54			36		0	0	0.005524	0	0
CADM2	253559	broad.mit.edu	37	3	85961660	85961660	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:85961660C>T	uc003dql.3	+	4	646	c.646C>T	c.(646-648)Cct>Tct	p.P216S	CADM2_uc003dqj.3_Missense_Mutation_p.P214S|CADM2_uc003dqk.3_Missense_Mutation_p.P223S|CADM2_uc003dqm.2_Missense_Mutation_p.P106S|CADM2_uc021xay.1_Missense_Mutation_p.P106S|CADM2_uc021xaz.1_Missense_Mutation_p.P106S|CADM2_uc021xba.1_Missense_Mutation_p.P106S	NM_153184	NP_694854	Q8N3J6	CADM2_HUMAN	Homo sapiens cell adhesion molecule 2 (CADM2), transcript variant 3, mRNA.	214	Ig-like C2-type 1.				adherens junction organization|cell junction assembly	integral to membrane|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		CAATGCCACCCCTCAGGTAGC	0.488000														24			26		0	0	0.006320	0	0
PTPRC	5788	broad.mit.edu	37	1	198704324	198704324	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:198704324G>A	uc001gur.1	+	22	2520	c.2340G>A	c.(2338-2340)aaG>aaA	p.K780K	PTPRC_uc001gut.1_Silent_p.K619K|PTPRC_uc021pgy.1_Silent_p.K734K|PTPRC_uc010ppg.1_Silent_p.K716K	NM_002838	NP_002829	P08575	PTPRC_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, C (PTPRC), transcript variant 1, mRNA.	780	Tyrosine-protein phosphatase 1.				B cell proliferation|B cell receptor signaling pathway|T cell differentiation|T cell receptor signaling pathway|axon guidance|defense response to virus|immunoglobulin biosynthetic process|negative regulation of T cell mediated cytotoxicity|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|positive regulation of B cell proliferation|positive regulation of T cell proliferation|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of protein kinase activity|regulation of S phase|release of sequestered calcium ion into cytosol	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						TTGTTGTAAAGATCAACCAGC	0.313000														40			7		0	0	0.004482	0	0
BANP	54971	broad.mit.edu	37	16	88105742	88105742	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:88105742C>T	uc002fkr.3	+	12	1633	c.1412C>T	c.(1411-1413)tCg>tTg	p.S471L	BANP_uc010vov.2_Missense_Mutation_p.S449L|BANP_uc002fkq.3_Missense_Mutation_p.S421L|BANP_uc002fks.4_Missense_Mutation_p.S418L|BANP_uc002fkp.3_Missense_Mutation_p.S443L|BANP_uc010vow.2_Missense_Mutation_p.S457L|BANP_uc021tml.1_Missense_Mutation_p.S460L	NM_001173543	NP_001167014	Q8N9N5	BANP_HUMAN	Homo sapiens BTG3 associated nuclear protein (BANP), transcript variant 7, mRNA.	471					cell cycle|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)	12				BRCA - Breast invasive adenocarcinoma(80;0.00551)		GTGGATGGGTCGCCACTCCAG	0.731000														8			9		0	0	0.004482	0	0
ROBO2	6092	broad.mit.edu	37	3	77612436	77612436	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:77612436C>T	uc011bgk.2	+	11	2293	c.1650C>T	c.(1648-1650)acC>acT	p.T550T	ROBO2_uc021xat.1_Silent_p.T562T|ROBO2_uc003dpy.4_Silent_p.T546T|ROBO2_uc003dpz.3_Silent_p.T550T|ROBO2_uc011bgj.2_Non-coding_Transcript	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 2 (Drosophila) (ROBO2), transcript variant 2, mRNA.	546	Fibronectin type-III 1.				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		AGCCAGGTACCCCTGGAACCC	0.463000														49			15		0	0	0.008871	0	0
NT5DC3	51559	broad.mit.edu	37	12	104187199	104187199	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:104187199G>A	uc010swe.1	-	7	947	c.906C>T	c.(904-906)ccC>ccT	p.P302P		NM_001031701	NP_001026871	Q86UY8	NT5D3_HUMAN	Homo sapiens 5'-nucleotidase domain containing 3 (NT5DC3), mRNA.	302							hydrolase activity|metal ion binding			NS(1)|breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|ovary(2)|skin(1)|stomach(2)	30						CAAAGCTACTGGGGCTATTGG	0.443000														50			23		0	0	0.003330	0	0
USP29	57663	broad.mit.edu	37	19	57640194	57640194	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:57640194T>C	uc002qny.3	+	3	507	c.151T>C	c.(151-153)Ttt>Ctt	p.F51L	USP29_uc021vci.1_Missense_Mutation_p.F51L	NM_020903	NP_065954	Q9HBJ7	UBP29_HUMAN	Homo sapiens ubiquitin specific peptidase 29 (USP29), mRNA.	51					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)		TATAAGAATTTTTCAGCTGAG	0.343000														20			14		0	0	0.002450	0	0
C16orf78	123970	broad.mit.edu	37	16	49430357	49430357	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:49430357G>A	uc002efr.3	+	3	461	c.418G>A	c.(418-420)Gac>Aac	p.D140N		NM_144602	NP_653203	Q8WTQ4	CP078_HUMAN	Homo sapiens chromosome 16 open reading frame 78 (C16orf78), mRNA.	140										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(1)	22						GGATGCAGTCGACCCAGAGTC	0.517000														28			13		0	0	0.004007	0	0
CHMP4C	92421	broad.mit.edu	37	8	82667692	82667692	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:82667692G>A	uc003ycl.3	+	2	630	c.456G>A	c.(454-456)cgG>cgA	p.R152R		NM_152284	NP_689497	Q96CF2	CHM4C_HUMAN	Homo sapiens charged multivesicular body protein 4C (CHMP4C), mRNA.	152	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						TTTCTCAACGGGTTGGCTTTG	0.413000														30			15		0	0	0.004990	0	0
CLDN16	10686	broad.mit.edu	37	3	190127728	190127728	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:190127728G>A	uc003fsi.3	+	4	1069	c.821G>A	c.(820-822)aGg>aAg	p.R274K	CLDN16_uc010hze.3_3'UTR	NM_006580	NP_006571	Q9Y5I7	CLD16_HUMAN	Homo sapiens claudin 16 (CLDN16), mRNA.	274					calcium-independent cell-cell adhesion|cellular metal ion homeostasis|excretion	integral to membrane|tight junction	identical protein binding|magnesium ion transmembrane transporter activity|structural molecule activity			breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|skin(1)	19	all_cancers(143;3.61e-10)|Ovarian(172;0.0991)		Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.018)		TATTCCTTGAGGAAAGCCTAT	0.408000														49			22		0	0	0.001882	0	0
NPAS4	266743	broad.mit.edu	37	11	66190310	66190310	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:66190310C>T	uc001ohx.1	+	3	772	c.596C>T	c.(595-597)cCc>cTc	p.P199L	NPAS4_uc010rpc.1_Missense_Mutation_p.P26S	NM_178864	NP_849195	Q8IUM7	NPAS4_HUMAN	Homo sapiens neuronal PAS domain protein 4 (NPAS4), mRNA.	199					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						GAGCCGAGACCCCGCCCAGGT	0.627000														41			14		0	0	0.004007	0	0
HK1	3098	broad.mit.edu	37	10	71144154	71144154	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:71144154C>T	uc001jpl.4	+	10	1737	c.1636C>T	c.(1636-1638)Cgt>Tgt	p.R546C	HK1_uc001jpg.4_Missense_Mutation_p.R534C|HK1_uc001jph.4_Missense_Mutation_p.R550C|HK1_uc001jpi.4_Missense_Mutation_p.R550C|HK1_uc001jpj.4_Missense_Mutation_p.R581C|HK1_uc001jpk.4_Missense_Mutation_p.R545C|HK1_uc009xqd.3_Missense_Mutation_p.R424C	NM_000188	NP_000179	P19367	HXK1_HUMAN	Homo sapiens hexokinase 1 (HK1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	546	Catalytic.				glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane|nucleus	ATP binding|glucokinase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(1)|urinary_tract(2)	35						GGTGAAAATCCGTAGTGGGAA	0.453000														103			41		0	0	0.006230	0	0
MUC17	140453	broad.mit.edu	37	7	100680287	100680287	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:100680287G>A	uc003uxp.1	+	2	5643	c.5590G>A	c.(5590-5592)Gaa>Aaa	p.E1864K	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	1864	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)					AACGCCTAGTGAAGGAAGCAC	0.498000														116			57		0	0	0.003610	0	0
NETO1	81832	broad.mit.edu	37	18	70526091	70526091	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr18:70526091C>T	uc002lkw.3	-	3	723	c.439G>A	c.(439-441)Gga>Aga	p.G147R	NETO1_uc002lky.2_Missense_Mutation_p.G147R|NETO1_uc002lkz.3_Missense_Mutation_p.G146R	NM_001201465	NP_001188394	Q8TDF5	NETO1_HUMAN	Homo sapiens neuropilin (NRP) and tolloid (TLL)-like 1 (NETO1), transcript variant 4, mRNA.	147	CUB 1.				memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity			NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		GCTGAAAATCCCATAGATTCC	0.328000														49			21		0	0	0.001882	0	0
FSTL5	56884	broad.mit.edu	37	4	162402309	162402309	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:162402309G>A	uc003iqh.3	-	12	1907	c.1471C>T	c.(1471-1473)Ccc>Tcc	p.P491S	FSTL5_uc003iqi.3_Missense_Mutation_p.P490S|FSTL5_uc010iqv.3_Missense_Mutation_p.P481S	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN	Homo sapiens follistatin-like 5 (FSTL5), transcript variant 1, mRNA.	491						extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		TCAGCTTTGGGACAGACTTCA	0.368000														139			23		0	0	0.006320	0	0
LRFN2	57497	broad.mit.edu	37	6	40360048	40360048	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:40360048C>T	uc003oph.1	-	2	2469	c.2004G>A	c.(2002-2004)caG>caA	p.Q668Q		NM_020737	NP_065788	Q9ULH4	LRFN2_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 2 (LRFN2), mRNA.	668						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)					CCTCCTTTCTCTGACTCTTGA	0.721000														11			3		0	0	0.000248	0	0
TCF25	22980	broad.mit.edu	37	16	89965178	89965178	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:89965178C>T	uc002fpb.2	+	10	1201	c.1119C>T	c.(1117-1119)ctC>ctT	p.L373L	TCF25_uc002fpc.2_Silent_p.L138L	NM_014972	NP_055787	Q9BQ70	TCF25_HUMAN	Homo sapiens transcription factor 25 (basic helix-loop-helix) (TCF25), mRNA.	373					heart development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|large_intestine(1)|lung(8)|ovary(3)|skin(1)|urinary_tract(2)	18		all_cancers(9;4.71e-08)|Lung NSC(15;0.000192)|all_lung(18;0.000319)|all_neural(9;0.0122)|all_hematologic(23;0.027)		BRCA - Breast invasive adenocarcinoma(80;0.0288)		CCGGAAGTCTCGAGCCGGATG	0.647000														20			7		0	0	0.003080	0	0
ZNF804A	91752	broad.mit.edu	37	2	185802564	185802564	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:185802564G>A	uc002uph.3	+	3	3035	c.2441G>A	c.(2440-2442)cGa>cAa	p.R814Q		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	Homo sapiens zinc finger protein 804A (ZNF804A), mRNA.	814						intracellular	zinc ion binding	p.R814*(1)		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						AAACGGAGGCGAAAAAGAGGC	0.398000														79			27		0	0	0.007291	0	0
LOC90925	0	broad.mit.edu	37	14	107259410	107259410	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:107259410G>A	uc001yta.1	-	1	300	c.269C>T	c.(268-270)tCa>tTa	p.S90L	abParts_uc021ser.1_Non-coding_Transcript					Homo sapiens hypothetical protein LOC90925, mRNA (cDNA clone MGC:3963 IMAGE:3621362), complete cds.																		GCTGTCGGCTGAGATGGTGAC	0.572000														18			24		0	0	0.006320	0	0
GOLGA3	2802	broad.mit.edu	37	12	133363077	133363077	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:133363077C>T	uc001ukz.1	-	14	3530	c.2971G>A	c.(2971-2973)Gag>Aag	p.E991K	GOLGA3_uc021rgt.1_Non-coding_Transcript|GOLGA3_uc001ula.1_Missense_Mutation_p.E991K|GOLGA3_uc001ulb.3_Missense_Mutation_p.E991K	NM_005895	NP_005886	Q08378	GOGA3_HUMAN	Homo sapiens golgin A3 (GOLGA3), transcript variant 1, mRNA.	991					intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		GTCTTCATCTCCTTCTGGGCG	0.632000														16			6		0	0	0.003080	0	0
DEFB110	245913	broad.mit.edu	37	6	49989597	49989597	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:49989597G>A	uc003pac.3	-	0	98	c.52C>T	c.(52-54)Cca>Tca	p.P18S	DEFB110_uc011dwr.2_Missense_Mutation_p.P18S	NM_001037497	NP_001032586	Q30KQ9	DB110_HUMAN	Homo sapiens defensin, beta 110 locus (DEFB110), transcript variant 1, mRNA.	18					defense response to bacterium	extracellular region				endometrium(1)|lung(1)|ovary(1)	3	Lung NSC(77;0.042)					ATATTACCTGGTAAAATTGTG	0.299000														28			13		0	0	0.004007	0	0
COL1A2	1278	broad.mit.edu	37	7	94038684	94038684	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:94038684C>T	uc003ung.1	+	16	1314	c.843C>T	c.(841-843)ccC>ccT	p.P281P	COL1A2_uc011kib.1_Intron	NM_000089	NP_000080	P08123	CO1A2_HUMAN	Homo sapiens collagen, type I, alpha 2 (COL1A2), mRNA.	281					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)	CCGCCGGTCCCCGTGGTGAAG	0.483000										HNSCC(75;0.22)				86			20		0	0	0.001786	0	0
KCNH5	27133	broad.mit.edu	37	14	63174358	63174358	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:63174358T>A	uc001xfx.3	-	10	2886	c.2835A>T	c.(2833-2835)aaA>aaT	p.K945N	KCNH5_uc001xfy.3_3'UTR	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 5 (KCNH5), transcript variant 1, mRNA.	945	CAD (involved in subunit assembly) (By similarity).				regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		GGGGTACGCTTTTTTCCGACA	0.468000														160			53		0	0	0.003610	0	0
ZC3H7B	23264	broad.mit.edu	37	22	41753189	41753189	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr22:41753189A>G	uc003azw.3	+	22	2906	c.2690A>G	c.(2689-2691)aAg>aGg	p.K897R		NM_017590	NP_060060	Q9UGR2	Z3H7B_HUMAN	Homo sapiens zinc finger CCCH-type containing 7B (ZC3H7B), mRNA.	913					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						AGGCTCCAGAAGGGCAAAGCC	0.667000														24			6		0	0	0.001168	0	0
C1orf51	148523	broad.mit.edu	37	1	150257076	150257076	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:150257076C>T	uc001euj.3	+	3	1040	c.591C>T	c.(589-591)gcC>gcT	p.A197A	C1orf51_uc001euh.3_Silent_p.A197A|C1orf51_uc001eui.3_Silent_p.A109A	NM_144697	NP_653298	Q8N365	CA051_HUMAN	Homo sapiens chromosome 1 open reading frame 51 (C1orf51), mRNA.	197										endometrium(3)|large_intestine(2)|lung(3)|urinary_tract(2)	10	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			AAATAGCTGCCCAGAAGTCAT	0.438000														60			20		0	0	0.002299	0	0
GRIK3	2899	broad.mit.edu	37	1	37346270	37346270	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:37346270C>T	uc001caz.2	-	2	650	c.515G>A	c.(514-516)tGg>tAg	p.W172*	GRIK3_uc001cba.1_Nonsense_Mutation_p.W172*	NM_000831	NP_000822	Q13003	GRIK3_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 3 (GRIK3), mRNA.	172					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	G-protein-coupled receptor binding|adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	GGCTGACCGCCACTTGAGGTA	0.632000														109			47		0	0	0.003610	0	0
CYB5R2	51700	broad.mit.edu	37	11	7690543	7690543	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:7690543G>A	uc001mfm.3	-	4	519	c.281C>T	c.(280-282)cCc>cTc	p.P94L	CYB5R2_uc001mfn.3_Non-coding_Transcript|CYB5R2_uc009yfk.3_Missense_Mutation_p.P94L|CYB5R2_uc009yfl.1_Missense_Mutation_p.P94L	NM_016229	NP_057313	Q6BCY4	NB5R2_HUMAN	Homo sapiens cytochrome b5 reductase 2 (CYB5R2), mRNA.	94	FAD-binding FR-type.				sterol biosynthetic process	membrane|soluble fraction	cytochrome-b5 reductase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)	11				Epithelial(150;5.48e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AGGATATTGGGGGTGTACATT	0.443000														73			31		0	0	0.003755	0	0
TBC1D5	9779	broad.mit.edu	37	3	17226675	17226675	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:17226675G>A	uc010hev.3	-	20	2108	c.1844C>T	c.(1843-1845)tCc>tTc	p.S615F	TBC1D5_uc010heu.3_Missense_Mutation_p.S180F|TBC1D5_uc003cbf.3_Missense_Mutation_p.S593F|TBC1D5_uc003cbe.3_Missense_Mutation_p.S593F|TBC1D5_uc010hew.1_Missense_Mutation_p.S567F	NM_001134381	NP_001127853	Q92609	TBCD5_HUMAN	Homo sapiens TBC1 domain family, member 5 (TBC1D5), transcript variant 1, mRNA.	593						intracellular	Rab GTPase activator activity|protein binding			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	36						TTGAAGGAAGGAAATTTGGGC	0.368000														51			27		0	0	0.006320	0	0
CNR1	1268	broad.mit.edu	37	6	88854820	88854820	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:88854820G>A	uc010kbz.3	-	1	304	c.174C>T	c.(172-174)ttC>ttT	p.F58F	CNR1_uc011dzr.2_Silent_p.F58F|CNR1_uc011dzs.2_Silent_p.F58F|CNR1_uc003pmq.4_Silent_p.F58F|CNR1_uc011dzt.2_Silent_p.F58F|CNR1_uc010kca.3_Silent_p.F25F|CNR1_uc021zco.1_Silent_p.F58F	NM_016083	NP_057167	P21554	CNR1_HUMAN	Homo sapiens cannabinoid receptor 1 (brain) (CNR1), transcript variant 1, mRNA.	58					G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	cannabinoid receptor activity|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1)	37		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.15)	Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)	TCTTCTCTTGGAAGGGACTTC	0.458000														33			6		0	0	0.001984	0	0
ARNTL	406	broad.mit.edu	37	11	13399896	13399897	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:13399896_13399897GG>AA	uc001mkr.3	+	16	1835_1836	c.1427_1428GG>AA	c.(1426-1428)agg>aAA	p.R476K	ARNTL_uc001mko.3_Missense_Mutation_p.R432K|ARNTL_uc001mkp.3_Missense_Mutation_p.R475K|ARNTL_uc001mkq.3_Missense_Mutation_p.R475K|ARNTL_uc001mks.3_Missense_Mutation_p.R433K|ARNTL_uc001mkt.3_Missense_Mutation_p.R476K|ARNTL_uc001mkw.3_Missense_Mutation_p.R433K|ARNTL_uc001mkx.3_Missense_Mutation_p.R474K|ARNTL_uc001mky.3_Missense_Mutation_p.R14K	NM_001178	NP_001169	O00327	BMAL1_HUMAN	Homo sapiens aryl hydrocarbon receptor nuclear translocator-like (ARNTL), transcript variant 1, mRNA.	476					circadian rhythm|positive regulation of transcription from RNA polymerase II promoter	transcription factor complex	DNA binding|Hsp90 protein binding|aryl hydrocarbon receptor binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|endometrium(2)|large_intestine(11)|lung(5)|upper_aerodigestive_tract(1)	20				Epithelial(150;0.0243)		GGCCCAAAGAGGACCCACCCCA	0.470000														14			7		0	0	0.004672	0	0
OSMR	9180	broad.mit.edu	37	5	38923261	38923261	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:38923261G>A	uc003jln.2	+	12	2177	c.1775G>A	c.(1774-1776)aGg>aAg	p.R592K	OSMR_uc011cpj.2_5'UTR	NM_003999	NP_003990	Q99650	OSMR_HUMAN	Homo sapiens oncostatin M receptor (OSMR), transcript variant 1, mRNA.	592	Fibronectin type-III 3.				cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					GATGCTTTTAGGCCAGGAGTT	0.338000														38			11		0	0	0.008291	0	0
FAF2	23197	broad.mit.edu	37	5	175921194	175921194	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:175921194C>T	uc003mej.4	+	6	632	c.579C>T	c.(577-579)ctC>ctT	p.L193L		NM_014613	NP_055428	Q96CS3	FAF2_HUMAN	Homo sapiens Fas associated factor family member 2 (FAF2), mRNA.	193					response to unfolded protein	endoplasmic reticulum|lipid particle	protein binding			breast(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	10						GCAACACACTCTGTGCACCTG	0.388000														46			18		0	0	0.007413	0	0
ANO3	63982	broad.mit.edu	37	11	26621241	26621241	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:26621241A>T	uc001mqt.4	+	16	1961	c.1816A>T	c.(1816-1818)Atc>Ttc	p.I606F	ANO3_uc010rdr.2_Missense_Mutation_p.I590F|ANO3_uc010rds.2_Missense_Mutation_p.I445F|ANO3_uc010rdt.2_Missense_Mutation_p.I460F	NM_031418	NP_113606	Q9BYT9	ANO3_HUMAN	Homo sapiens anoctamin 3 (ANO3), mRNA.	606						chloride channel complex	chloride channel activity	p.I606I(1)		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						CAATTTCATAATCATTATGTT	0.368000														34			25		0	0	0.004656	0	0
TSHZ2	128553	broad.mit.edu	37	20	51872404	51872404	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr20:51872404C>T	uc002xwo.3	+	1	3294	c.2407C>T	c.(2407-2409)Ccc>Tcc	p.P803S	TSHZ2_uc021wex.1_Missense_Mutation_p.P800S	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	Homo sapiens teashirt zinc finger homeobox 2 (TSHZ2), transcript variant 1, mRNA.	803					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			CAAAGTCCTCCCCAAAGCCAC	0.562000														64			26		0	0	0.004656	0	0
ANK1	286	broad.mit.edu	37	8	41529905	41529905	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:41529905G>A	uc003xok.3	-	37	5147	c.5063C>T	c.(5062-5064)aCc>aTc	p.T1688I	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.3_Missense_Mutation_p.T842I|ANK1_uc003xoi.3_Missense_Mutation_p.T1688I|ANK1_uc003xoj.3_Missense_Mutation_p.T1688I|ANK1_uc003xol.3_Missense_Mutation_p.T1526I|ANK1_uc003xom.3_Missense_Mutation_p.T1729I	NM_020476	NP_065209	P16157	ANK1_HUMAN	Homo sapiens ankyrin 1, erythrocytic (ANK1), transcript variant 1, mRNA.	1688	55 kDa regulatory domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			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)			CTGACTCACGGTGGGGGAATG	0.562000														42			28		0	0	0.007291	0	0
P2RY8	286530	broad.mit.edu	37	X	1584669	1584669	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chrX:1584669G>A	uc022brv.1	-	0	783	c.783C>T	c.(781-783)atC>atT	p.I261I	CRLF2_uc022brt.1_Intron|P2RY8_uc004cpz.2_Silent_p.I261I	NM_178129	NP_835230	Q86VZ1	P2RY8_HUMAN	Homo sapiens purinergic receptor P2Y, G-protein coupled, 8 (P2RY8), mRNA.	261						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.I261I(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)	23		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)				GGCGGCTCACGATGTGCGCCA	0.612000			T	CRLF2	"""B-ALL, Downs associated ALL"""									46			9		0	0	0.006214	0	0
RSPH6A	81492	broad.mit.edu	37	19	46299343	46299343	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:46299343G>A	uc002pdm.3	-	5	2109	c.1938C>T	c.(1936-1938)atC>atT	p.I646I	RSPH6A_uc002pdl.3_Silent_p.I382I	NM_030785	NP_110412	Q9H0K4	RSH6A_HUMAN	Homo sapiens radial spoke head 6 homolog A (Chlamydomonas) (RSPH6A), mRNA.	646	Glu-rich.					intracellular				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						GACCCCAGCCGATGTAGATGT	0.498000														65			35		0	0	0.005524	0	0
TRAPPC10	7109	broad.mit.edu	37	21	45483519	45483519	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr21:45483519G>A	uc002zea.3	+	6	1060	c.891G>A	c.(889-891)caG>caA	p.Q297Q	TRAPPC10_uc010gpo.3_Silent_p.Q8Q	NM_003274	NP_003265	P48553	TPC10_HUMAN	Homo sapiens trafficking protein particle complex 10 (TRAPPC10), mRNA.	297					vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						AATCGATCCAGAGGCGAGAAG	0.567000														53			5		0	0	0.000602	0	0
DNAH11	8701	broad.mit.edu	37	7	21892109	21892109	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:21892109G>A	uc003svc.3	+	67	10973	c.10942G>A	c.(10942-10944)Gat>Aat	p.D3648N		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	3648	AAA 5 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GCACCAAAATGATTTTAAAAT	0.373000									Kartagener syndrome					60			13		0	0	0.003163	0	0
TEX34	124783	broad.mit.edu	37	17	43333199	43333199	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:43333199C>T	uc002iis.1	-	3	446	c.350G>A	c.(349-351)gGg>gAg	p.G117E	LOC100133991_uc010dah.3_Intron|TEX34_uc010wjk.1_Missense_Mutation_p.G96E	NM_152343	NP_689556	Q96LK8	CQ046_HUMAN	Homo sapiens chromosome 17 open reading frame 46 (C17orf46), mRNA.	117																	CGTGGGCAGCCCCATGTTGGA	0.552000														87			47		0	0	0.003610	0	0
DCHS2	54798	broad.mit.edu	37	4	155155969	155155970	+	Missense_Mutation	DNP	GG	AA	AA	rs145080105	byFrequency	TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:155155969_155155970GG>AA	uc003inw.2	-	24	8469_8470	c.8469_8470CC>TT	c.(8467-8472)ccccct>ccTTct	p.P2824S		NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	Homo sapiens dachsous 2 (Drosophila) (DCHS2), transcript variant 1, mRNA.	2824					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		GTTATCAAAGGGGGTGGAAAAA	0.465000														82			30		0	0	0.004672	0	0
TCEANC2	127428	broad.mit.edu	37	1	54534469	54534469	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:54534469T>G	uc001cwt.1	+	2	343	c.143T>G	c.(142-144)aTg>aGg	p.M48R	TCEANC2_uc001cwu.1_Intron	NM_153035	NP_694580	Q96MN5	TEAN2_HUMAN	Homo sapiens transcription elongation factor A (SII) N-terminal and central domain containing 2 (TCEANC2), mRNA.	48	TFIIS N-terminal.				transcription, DNA-dependent	nucleus	DNA binding			kidney(1)|lung(3)|pancreas(1)	5						TGGAAAACTATGCTGGAGCTT	0.353000														23			12		0	0	0.001368	0	0
MAGEB18	286514	broad.mit.edu	37	X	26157665	26157665	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chrX:26157665C>T	uc022bub.1	+	0	563	c.563C>T	c.(562-564)aCc>aTc	p.T188I	MAGEB18_uc004dbq.2_Missense_Mutation_p.T188I	NM_173699	NP_775970	Q96M61	MAGBI_HUMAN	Homo sapiens melanoma antigen family B, 18 (MAGEB18), mRNA.	188	MAGE.						protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(17)|skin(2)|stomach(1)|urinary_tract(2)	33						GATGAAACAACCAGTGATGAA	0.473000														4			6		0	0	0.003080	0	0
FBN1	2200	broad.mit.edu	37	15	48741067	48741067	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:48741067G>C	uc001zwx.2	-	45	5964	c.5569C>G	c.(5569-5571)Ccc>Gcc	p.P1857A	FBN1_uc010beo.2_Non-coding_Transcript	NM_000138	NP_000129	P35555	FBN1_HUMAN	Homo sapiens fibrillin 1 (FBN1), mRNA.	1857	EGF-like 31; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		CATATATTGGGGATTTCTTGA	0.348000														31			9		0	0	0.004482	0	0
GALNT6	11226	broad.mit.edu	37	12	51754511	51754511	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:51754511G>A	uc001ryk.2	-	5	1386	c.1161C>T	c.(1159-1161)tcC>tcT	p.S387S	GALNT6_uc009zma.1_Intron|GALNT6_uc001ryl.1_Silent_p.S387S|GALNT6_uc001ryj.1_5'Flank	NM_007210	NP_009141	Q8NCL4	GALT6_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6) (GALNT6), mRNA.	387	Catalytic subdomain B.				protein O-linked glycosylation	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						TCACCCGGAAGGACATTTCCA	0.537000														50			16		0	0	0.001523	0	0
SH3RF2	153769	broad.mit.edu	37	5	145379738	145379738	+	Missense_Mutation	SNP	G	A	A	rs150323691		TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:145379738G>A	uc003lnt.3	+	2	734	c.496G>A	c.(496-498)Gaa>Aaa	p.E166K	SH3RF2_uc011dbl.1_Missense_Mutation_p.E166K	NM_152550	NP_689763	Q8TEC5	SH3R2_HUMAN	Homo sapiens SH3 domain containing ring finger 2 (SH3RF2), mRNA.	166	SH3 1.						ligase activity|protein phosphatase 1 binding|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GTACCAGGGGGAAATCAATGG	0.547000														38			26		0	0	0.006320	0	0
PRRC2A	7916	broad.mit.edu	37	6	31593085	31593086	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:31593085_31593086CC>TT	uc003nvb.4	+	5	850_851	c.601_602CC>TT	c.(601-603)ccc>TTc	p.P201F	PRRC2A_uc011dnv.1_Non-coding_Transcript|PRRC2A_uc003nvc.4_Missense_Mutation_p.P201F|PRRC2A_uc003nve.3_Missense_Mutation_p.P64F	NM_080686	NP_542417	P48634	PRC2A_HUMAN	Homo sapiens proline-rich coiled-coil 2A (PRRC2A), transcript variant 1, mRNA.	201	4 X 57 AA type A repeats.					cytoplasm|nucleus	protein binding			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						AAGCCTCCGCCCCCAAAGTGAG	0.574000														48			15		0	0	0.004672	0	0
SLC12A5	57468	broad.mit.edu	37	20	44686191	44686191	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr20:44686191C>T	uc010zxl.1	+	25	3443	c.3367C>T	c.(3367-3369)Cgg>Tgg	p.R1123W	SLC12A5_uc002xrb.2_Missense_Mutation_p.R1100W	NM_001134771	NP_001128243	Q9H2X9	S12A5_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporter), member 5 (SLC12A5), transcript variant 1, mRNA.	1123					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	GCACCTGGACCGGGTGATGCT	0.677000														53			38		0	0	0.003610	0	0
PEG3	5178	broad.mit.edu	37	19	57328744	57328744	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:57328744T>C	uc002qnu.2	-	6	1417	c.1066A>G	c.(1066-1068)Aag>Gag	p.K356E	PEG3_uc010ygr.1_Intron|PEG3_uc010ygq.1_Intron|PEG3_uc002qnr.2_Intron|PEG3_uc010etp.2_Intron|PEG3_uc010ygs.1_Intron|PEG3_uc002qnq.2_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.K327E|PEG3_uc002qnv.2_Missense_Mutation_p.K356E|PEG3_uc002qnw.2_Missense_Mutation_p.K232E|PEG3_uc002qnx.2_Missense_Mutation_p.K230E|PEG3_uc010etr.2_Missense_Mutation_p.K356E	NM_001146186	NP_001139657	Q9GZU2	PEG3_HUMAN	Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA.	356					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)		GACTCCCTCTTGTTCAATGAA	0.468000														40			11		0	0	0.001855	0	0
PRPF4	9128	broad.mit.edu	37	9	116045700	116045700	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:116045700C>A	uc004bgx.3	+	5	705	c.595C>A	c.(595-597)Cat>Aat	p.H199N	PRPF4_uc004bgy.3_Missense_Mutation_p.H198N	NM_004697	NP_004688	O43172	PRP4_HUMAN	Homo sapiens PRP4 pre-mRNA processing factor 4 homolog (yeast) (PRPF4), transcript variant 1, mRNA.	199						Cajal body|U4/U6 snRNP|nuclear speck|spliceosomal complex	protein binding	p.H199Y(2)		NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	23						GGCCCGACTCCATAAGGAGAT	0.512000														60			20		9.57634e-11	1.16044e-10	0.003330	1	0
AIM1L	55057	broad.mit.edu	37	1	26671995	26671995	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:26671995G>A	uc001bmd.4	-	1	1304	c.1154C>T	c.(1153-1155)cCc>cTc	p.P385L		NM_001039775	NP_001034864	Q8N1P7	AIM1L_HUMAN	Homo sapiens absent in melanoma 1-like (AIM1L), mRNA.	0	Beta/gamma crystallin 'Greek key' 8.						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)		CAGAACAAGGGGAGTGAGCCG	0.647000														32			15		0	0	0.004990	0	0
MYH14	79784	broad.mit.edu	37	19	50812330	50812330	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:50812330C>T	uc010enu.1	+	41	5903	c.5856C>T	c.(5854-5856)tcC>tcT	p.S1952S	MYH14_uc002prq.1_Silent_p.S1919S|MYH14_uc002prr.1_Silent_p.S1911S|MYH14_uc010ycb.2_Silent_p.S262S|MYH14_uc002prs.1_Silent_p.S262S	NM_001145809	NP_001139281	Q7Z406	MYH14_HUMAN	Homo sapiens myosin, heavy chain 14, non-muscle (MYH14), transcript variant 3, mRNA.	1911					axon guidance|regulation of cell shape	myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		AGGAGGCATCCCGGGCTCAGG	0.622000														38			14		0	0	0.001855	0	0
PSG8	440533	broad.mit.edu	37	19	43259287	43259287	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:43259287G>A	uc002ouo.2	-	3	939	c.841C>T	c.(841-843)Ccg>Tcg	p.P281S	PSG3_uc002ouf.3_Intron|PSG3_uc002oug.1_Intron|PSG8_uc010eim.3_Intron|PSG8_uc002ouh.3_Missense_Mutation_p.P281S|PSG8_uc010ein.3_Missense_Mutation_p.P159S|PSG3_uc002oun.3_Intron	NM_182707	NP_874366	Q9UQ74	PSG8_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 8 (PSG8), transcript variant 1, mRNA.	281	Ig-like C2-type 2.					extracellular region		p.P281Q(1)|p.L280I(1)		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)				GGACTGACCGGGAGGCTCTGA	0.453000														120			53		0	0	0.003610	0	0
TREML2	79865	broad.mit.edu	37	6	41162494	41162494	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:41162494C>T	uc010jxm.1	-	2	633	c.454G>A	c.(454-456)Gcc>Acc	p.A152T		NM_024807	NP_079083	Q5T2D2	TRML2_HUMAN	Homo sapiens triggering receptor expressed on myeloid cells-like 2 (TREML2), mRNA.	152					T cell activation	cell surface|integral to membrane|plasma membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18	Ovarian(28;0.0418)|Colorectal(47;0.196)					GAGGTAGGGGCTTGGCCAGTT	0.537000														25			10		0	0	0.001368	0	0
TAS2R39	259285	broad.mit.edu	37	7	142881493	142881493	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:142881493C>T	uc011ksw.2	+	0	982	c.982C>T	c.(982-984)Cga>Tga	p.R328*		NM_176881	NP_795362	P59534	T2R39_HUMAN	Homo sapiens taste receptor, type 2, member 39 (TAS2R39), mRNA.	328					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	Melanoma(164;0.059)					GCTTCAGCTTCGACTTCATCT	0.527000														13			5		0	0	0.001168	0	0
RPAP1	26015	broad.mit.edu	37	15	41819424	41819424	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:41819424G>A	uc001zod.3	-	12	1811	c.1687C>T	c.(1687-1689)Ctt>Ttt	p.L563F		NM_015540	NP_056355	Q9BWH6	RPAP1_HUMAN	Homo sapiens RNA polymerase II associated protein 1 (RPAP1), mRNA.	563						nucleus	DNA binding|DNA-directed RNA polymerase activity			NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	45		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		AGGATGTCAAGGACCACCGCA	0.607000														41			8		0	0	0.006214	0	0
KRTAP10-9	386676	broad.mit.edu	37	21	46047644	46047644	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr21:46047644G>C	uc002zfp.4	+	0	605	c.556G>C	c.(556-558)Gtc>Ctc	p.V186L	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198690	NP_941963	P60411	KR109_HUMAN	Homo sapiens keratin associated protein 10-9 (KRTAP10-9), mRNA.	186	25 X 5 AA repeats of C-C-X(3).					keratin filament				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)	9						CTGTGTGCCTGTCTGCTGTAA	0.597000														158			20		0	0	0.001523	0	0
CCDC81	60494	broad.mit.edu	37	11	86123497	86123497	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:86123497C>T	uc001pbx.2	+	10	1715	c.1287C>T	c.(1285-1287)tcC>tcT	p.S429S	CCDC81_uc001pbw.2_Silent_p.S339S|CCDC81_uc010rtq.2_Silent_p.S212S|CCDC81_uc001pby.2_Silent_p.S164S	NM_001156474	NP_001149946	Q6ZN84	CCD81_HUMAN	Homo sapiens coiled-coil domain containing 81 (CCDC81), transcript variant 1, mRNA.	429										kidney(3)|large_intestine(8)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	20		Acute lymphoblastic leukemia(157;5.51e-06)|all_hematologic(158;0.00535)				AGGAATATTCCCGGAGTCTCC	0.418000														83			23		0	0	0.002780	0	0
CYP46A1	10858	broad.mit.edu	37	14	100182258	100182258	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:100182258G>A	uc001ygo.3	+	7	805	c.805G>A	c.(805-807)Gag>Aag	p.E269K	CYP46A1_uc001ygp.3_Missense_Mutation_p.E116K	NM_006668	NP_006659	Q9Y6A2	CP46A_HUMAN	Homo sapiens cytochrome P450, family 46, subfamily A, polypeptide 1 (CYP46A1), mRNA.	269					bile acid biosynthetic process|cholesterol catabolic process|nervous system development|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol 24-hydroxylase activity|electron carrier activity|heme binding|steroid hydroxylase activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)	25		Melanoma(154;0.0866)|all_epithelial(191;0.179)				GAAGAGGGGCGAGGAGGTTCC	0.677000														28			14		0	0	0.002450	0	0
CACNA1I	8911	broad.mit.edu	37	22	40030692	40030692	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr22:40030692C>T	uc003ayc.3	+	4	703	c.703C>T	c.(703-705)Ctg>Ttg	p.L235L	CACNA1I_uc003ayd.3_Silent_p.L235L|CACNA1I_uc003aye.3_Silent_p.L150L|CACNA1I_uc003ayf.3_Silent_p.L150L	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1I subunit (CACNA1I), transcript variant 1, mRNA.	235					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	GGCGGGCCTGCTGCGTAACCG	0.552000														60			24		0	0	0.004656	0	0
MAK16	84549	broad.mit.edu	37	8	33347814	33347814	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:33347814T>C	uc003xjj.3	+	5	444	c.404T>C	c.(403-405)gTt>gCt	p.V135A	TTI2_uc010lvu.1_Intron	NM_032509	NP_115898	Q9BXY0	MAK16_HUMAN	Homo sapiens MAK16 homolog (S. cerevisiae) (MAK16), mRNA.	135						nucleolus				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|urinary_tract(1)	8						AGGAAACTTGTTCCTTTGAGT	0.373000														25			13		0	0	0.003163	0	0
TMPRSS5	80975	broad.mit.edu	37	11	113567668	113567668	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:113567668G>A	uc001poc.4	-	5	612	c.490C>T	c.(490-492)Ctc>Ttc	p.L164F	TMPRSS5_uc009yys.3_Missense_Mutation_p.L155F|TMPRSS5_uc009yyt.3_Missense_Mutation_p.L120F|TMPRSS5_uc001pod.4_5'UTR|TMPRSS5_uc010rww.2_Missense_Mutation_p.L154F|TMPRSS5_uc009yyu.3_5'UTR|TMPRSS5_uc010rwx.2_Missense_Mutation_p.L120F	NM_030770	NP_110397	Q9H3S3	TMPS5_HUMAN	Homo sapiens transmembrane protease, serine 5 (TMPRSS5), mRNA.	164	SRCR.				proteolysis	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity			endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	10		all_cancers(61;2.71e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.75e-06)|Epithelial(105;6.34e-05)|all cancers(92;0.000502)		ATGTCAGTGAGGTTTACTCCC	0.478000														5			3		0	0	0.004672	0	0
C15orf2	23742	broad.mit.edu	37	15	24921999	24921999	+	Nonsense_Mutation	SNP	A	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:24921999A>T	uc001ywo.3	+	0	1459	c.985A>T	c.(985-987)Aaa>Taa	p.K329*		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	329	Pro-rich.				cell differentiation|multicellular organismal development|spermatogenesis			p.R328K(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)		CTGCAAAAGGAAAATGTCGAT	0.582000														30			6		0	0	0.001168	0	0
THEMIS	387357	broad.mit.edu	37	6	128150684	128150684	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:128150684G>A	uc011ebt.2	-	2	795	c.646C>T	c.(646-648)Cct>Tct	p.P216S	THEMIS_uc010kfa.3_Missense_Mutation_p.P119S|THEMIS_uc021zfa.1_Missense_Mutation_p.P216S|THEMIS_uc010kfb.3_Missense_Mutation_p.P181S	NM_001164685	NP_001158157	Q8N1K5	THMS1_HUMAN	Homo sapiens thymocyte selection associated (THEMIS), transcript variant 1, mRNA.	216	CABIT 1.				T cell receptor signaling pathway|negative T cell selection|positive T cell selection	cytoplasm|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						AAGTCTTTAGGAAATGGATTC	0.363000														61			24		0	0	0.003954	0	0
TTN	7273	broad.mit.edu	37	2	179404953	179404953	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:179404953C>T	uc021vsy.1	-	299	90461	c.90236G>A	c.(90235-90237)tGg>tAg	p.W30079*	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Nonsense_Mutation_p.W23774*|TTN_uc021vta.1_Nonsense_Mutation_p.W23707*|TTN_uc021vtb.1_Nonsense_Mutation_p.W23582*	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	31006	Fibronectin type-III 119.						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)			ACACTTGGTCCATTCATGTTG	0.458000														204			69		0	0	0.003610	0	0
SCN7A	6332	broad.mit.edu	37	2	167273338	167273338	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:167273338G>A	uc002udu.2	-	19	3423	c.3293C>T	c.(3292-3294)tCa>tTa	p.S1098L	SCN7A_uc010fpm.2_Non-coding_Transcript	NM_002976	NP_002967	Q01118	SCN7A_HUMAN	Homo sapiens sodium channel, voltage-gated, type VII, alpha (SCN7A), transcript variant 1, mRNA.	1098					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						GACTTCAGATGAAGGAAACCT	0.388000														29			14		0	0	0.002450	0	0
TSC1	7248	broad.mit.edu	37	9	135779089	135779089	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:135779089G>A	uc004cca.2	-	16	2391	c.2157C>T	c.(2155-2157)ctC>ctT	p.L719L	TSC1_uc004ccb.3_Silent_p.L718L|TSC1_uc011mcq.1_Silent_p.L668L|TSC1_uc011mcr.2_Intron	NM_000368	NP_000359	Q92574	TSC1_HUMAN	Homo sapiens tuberous sclerosis 1 (TSC1), transcript variant 1, mRNA.	719					activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of TOR signaling cascade|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of translation|positive regulation of focal adhesion assembly|rRNA export from nucleus|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly	TSC1-TSC2 complex|cell cortex|lamellipodium|membrane	chaperone binding|protein N-terminus binding	p.?(1)		NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		CCTTGCGGAGGAGCCGCCTGT	0.532000			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis					52			19		0	0	0.007413	0	0
SLC10A2	6555	broad.mit.edu	37	13	103705039	103705039	+	Silent	SNP	G	A	A	rs114146899	byFrequency	TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr13:103705039G>A	uc001vpy.4	-	2	1113	c.516C>T	c.(514-516)ctC>ctT	p.L172L		NM_000452	NP_000443	Q12908	NTCP2_HUMAN	Homo sapiens solute carrier family 10 (sodium/bile acid cotransporter family), member 2 (SLC10A2), mRNA.	172					bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					CAGGAACAACGAGAGAAACCA	0.393000														34			12		0	0	0.001368	0	0
FSIP1	161835	broad.mit.edu	37	15	40005724	40005724	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:40005724C>T	uc001zki.3	-	9	1327	c.1109G>A	c.(1108-1110)aGg>aAg	p.R370K		NM_152597	NP_689810	Q8NA03	FSIP1_HUMAN	Homo sapiens fibrous sheath interacting protein 1 (FSIP1), mRNA.	370										NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	23		all_cancers(109;2.66e-19)|all_epithelial(112;2.66e-16)|Lung NSC(122;1.5e-11)|all_lung(180;4.03e-10)|Melanoma(134;0.0575)|Ovarian(310;0.0827)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;8.22e-06)|BRCA - Breast invasive adenocarcinoma(123;0.142)		TTTGGTGTTCCTAAGTATCTT	0.353000														110			55		0	0	0.003610	0	0
SYN1	6853	broad.mit.edu	37	X	47432303	47432303	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chrX:47432303C>G	uc004die.3	-	12	2207	c.2078G>C	c.(2077-2079)cGc>cCc	p.R693P	SYN1_uc004did.3_3'UTR	NM_006950	NP_008881	P17600	SYN1_HUMAN	Homo sapiens synapsin I (SYN1), transcript variant Ia, mRNA.	693	E.					Golgi apparatus|cell junction	ATP binding|actin binding|ligase activity|transporter activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(6)|lung(6)|ovary(1)	21						CCTCAGGCTGCGGATGGTCTC	0.577000														22			37		0	0	0.002222	0	0
ZBTB26	57684	broad.mit.edu	37	9	125682045	125682045	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:125682045A>G	uc004bnk.3	-	1	243	c.169T>C	c.(169-171)Ttc>Ctc	p.F57L	ZBTB26_uc004bnj.3_Missense_Mutation_p.F57L|ZBTB26_uc022bnc.1_Missense_Mutation_p.F57L	NM_020924	NP_065975	Q9HCK0	ZBT26_HUMAN	Homo sapiens zinc finger and BTB domain containing 26 (ZBTB26), mRNA.	57	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(4)|prostate(1)	11						TCTCTTAAGAAGGGGGAACCT	0.368000														24			17		0	0	0.007413	0	0
SPINT2	10653	broad.mit.edu	37	19	38779819	38779819	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:38779819T>C	uc002ohr.2	+	3	814	c.379T>C	c.(379-381)Ttc>Ctc	p.F127L	SPINT2_uc002ohs.2_Missense_Mutation_p.F70L	NM_021102	NP_066925	O43291	SPIT2_HUMAN	Homo sapiens serine peptidase inhibitor, Kunitz type, 2 (SPINT2), transcript variant a, mRNA.	127					cellular component movement	cytoplasm|extracellular region|integral to membrane|soluble fraction	serine-type endopeptidase inhibitor activity			large_intestine(2)|lung(1)|ovary(1)	4	all_cancers(60;6.83e-07)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CAGCGATATGTTCAACTATGA	0.557000														54			31		0	0	0.006999	0	0
LY9	4063	broad.mit.edu	37	1	160784448	160784448	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:160784448G>A	uc001fwu.3	+	3	1019	c.969G>A	c.(967-969)aaG>aaA	p.K323K	LY9_uc010pjs.1_Silent_p.K323K|LY9_uc001fwv.3_Silent_p.K323K|LY9_uc001fww.3_Silent_p.K323K|LY9_uc001fwy.1_Silent_p.K225K|LY9_uc001fwz.3_5'UTR	NM_002348	NP_002339	Q9HBG7	LY9_HUMAN	Homo sapiens lymphocyte antigen 9 (LY9), transcript variant 1, mRNA.	323	Ig-like V-type 2.				cell adhesion|immunoglobulin mediated immune response	integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			GCTCCCTGAAGATCAGCCAGC	0.562000														28			7		0	0	0.003080	0	0
KCNH5	27133	broad.mit.edu	37	14	63453898	63453898	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:63453898C>T	uc001xfx.3	-	4	492	c.441G>A	c.(439-441)acG>acA	p.T147T	KCNH5_uc001xfy.3_Silent_p.T147T|KCNH5_uc001xfz.1_Silent_p.T89T|KCNH5_uc001xga.3_Silent_p.T89T	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 5 (KCNH5), transcript variant 1, mRNA.	147					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity	p.T147M(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		GGGCAAATTTCGTCCAACCTT	0.388000														63			32		0	0	0.002445	0	0
TCEB3C	162699	broad.mit.edu	37	18	44555292	44555292	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr18:44555292C>T	uc010xdb.2	-	0	1158	c.922G>A	c.(922-924)Gaa>Aaa	p.E308K	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.3_Intron	NM_145653	NP_663628	Q8NG57	ELOA3_HUMAN	Homo sapiens transcription elongation factor B polypeptide 3C (elongin A3) (TCEB3C), mRNA.	308	Activation domain (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	DNA binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2)	30						AAAGCAGCTTCCTCCTGGAGC	0.637000														699			24		0	0	0.004656	0	0
RASEF	158158	broad.mit.edu	37	9	85607821	85607821	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:85607821C>T	uc004amo.1	-	15	2301	c.2040_splice	c.e15+1	p.M680_splice		NM_152573	NP_689786	Q8IZ41	RASEF_HUMAN	Homo sapiens RAS and EF-hand domain containing (RASEF), mRNA.	680					protein transport|small GTPase mediated signal transduction	perinuclear region of cytoplasm	GTP binding|calcium ion binding			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(4)|liver(1)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						TCACTCTTACCATGGCCAGTT	0.473000														120			39		0	0	0.003610	0	0
DPP10	57628	broad.mit.edu	37	2	116572408	116572408	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:116572408C>T	uc002tle.3	+	19	1773	c.1752C>T	c.(1750-1752)ttC>ttT	p.F584F	DPP10_uc002tla.2_Silent_p.F580F|DPP10_uc002tlb.2_Silent_p.F530F|DPP10_uc002tlc.2_Silent_p.F576F|DPP10_uc002tlf.2_Silent_p.F573F	NM_001178034	NP_001171505	Q8N608	DPP10_HUMAN	Homo sapiens dipeptidyl-peptidase 10 (non-functional) (DPP10), transcript variant 3, mRNA.	580					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						CAGATAAGTTCCATATTGACT	0.413000														50			11		0	0	0.000978	0	0
WDR86	349136	broad.mit.edu	37	7	151093230	151093230	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:151093230G>A	uc011kvk.1	-	2	807	c.358C>T	c.(358-360)Cgg>Tgg	p.R120W	WDR86_uc003wka.2_Missense_Mutation_p.R78W|WDR86_uc003wkb.2_Missense_Mutation_p.R120W|WDR86_uc003wkc.2_5'UTR			Q86TI4	WDR86_HUMAN	Homo sapiens WD repeat domain 86 (WDR86), mRNA.	120										breast(1)|endometrium(2)|kidney(1)|lung(6)	10			OV - Ovarian serous cystadenocarcinoma(82;0.00419)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CTCCAGACCCGAGCTGTCCGG	0.642000														31			20		0	0	0.003330	0	0
CLDN18	51208	broad.mit.edu	37	3	137717741	137717741	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:137717741T>C	uc003ero.1	+	0	84	c.31T>C	c.(31-33)Ttc>Ctc	p.F11L		NM_001002026	NP_001002026	P56856	CLD18_HUMAN	Homo sapiens claudin 18 (CLDN18), transcript variant 2, mRNA.	11					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						GGGCTTGGGGTTCGTGGTTTC	0.557000														62			20		0	0	0.008871	0	0
SH2D3A	10045	broad.mit.edu	37	19	6763721	6763721	+	Silent	SNP	T	C	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:6763721T>C	uc002mft.3	-	1	233	c.39A>G	c.(37-39)caA>caG	p.Q13Q	SH2D3A_uc010xjg.2_Missense_Mutation_p.N8S	NM_005490	NP_005481	Q9BRG2	SH23A_HUMAN	Homo sapiens SH2 domain containing 3A (SH2D3A), mRNA.	13					JNK cascade|small GTPase mediated signal transduction	intracellular	SH3/SH2 adaptor activity|guanyl-nucleotide exchange factor activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|urinary_tract(1)	24						GGTACCAAGGTTGGCCAGCAA	0.612000														37			18		0	0	0.001523	0	0
COL5A1	1289	broad.mit.edu	37	9	137660267	137660267	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:137660267G>A	uc004cfe.3	+	24	2626	c.2244G>A	c.(2242-2244)ggG>ggA	p.G748G		NM_000093	NP_000084	P20908	CO5A1_HUMAN	Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA.	748	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		GTCCCTTGGGGAAACCAGGCC	0.592000														79			21		0	0	0.002780	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77401601	77401601	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:77401601C>T	uc002ffc.4	-	3	934	c.515G>A	c.(514-516)cGa>cAa	p.R172Q	ADAMTS18_uc002ffe.1_5'UTR|ADAMTS18_uc010vni.1_Non-coding_Transcript	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 18 (ADAMTS18), mRNA.	172					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.R172Q(2)|p.R172G(1)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						TTCATTTTTTCGTGTCCTTAT	0.463000														39			12		0	0	0.001368	0	0
ELMO1	9844	broad.mit.edu	37	7	37382279	37382279	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:37382279C>T	uc022abv.1	-	1	726	c.16G>A	c.(16-18)Gac>Aac	p.D6N	ELMO1_uc003tfk.2_Missense_Mutation_p.D6N|ELMO1_uc010kxg.2_Missense_Mutation_p.D6N	NM_001206482	NP_001193411	Q92556	ELMO1_HUMAN	Homo sapiens engulfment and cell motility 1 (ELMO1), transcript variant 5, mRNA.	6					Rac protein signal transduction|actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding	p.A5T(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						TTGACGATGTCCGCGGGTGGC	0.498000														94			43		0	0	0.002222	0	0
NPHS2	7827	broad.mit.edu	37	1	179526183	179526183	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:179526183C>T	uc001gmq.4	-	4	802	c.717G>A	c.(715-717)aaG>aaA	p.K239K	NPHS2_uc009wxi.3_Intron	NM_014625	NP_055440	Q9NP85	PODO_HUMAN	Homo sapiens nephrosis 2, idiopathic, steroid-resistant (podocin) (NPHS2), mRNA.	239					excretion	integral to plasma membrane	protein binding			NS(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	20						GGGCGATGCTCTTCCTCTCTA	0.373000														27			11		0	0	0.000978	0	0
INADL	10207	broad.mit.edu	37	1	62237271	62237272	+	Silent	DNP	CC	TT	TT			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:62237271_62237272CC>TT	uc001dab.3	+	5	807_808	c.693_694CC>TT	c.(691-696)agccta>agTTta	p.231_232SL>SL	INADL_uc009waf.1_Silent_p.231_232SL>SL|INADL_uc001daa.2_Silent_p.231_232SL>SL|INADL_uc001dad.3_5'UTR	NM_176877	NP_795352	Q8NI35	INADL_HUMAN	Homo sapiens InaD-like (Drosophila) (INADL), mRNA.	231					intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						CTTCTAGCAGCCTAAATGATAC	0.376000														26			5		0	0	0.004672	0	0
FREM2	341640	broad.mit.edu	37	13	39453102	39453102	+	Silent	SNP	A	G	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr13:39453102A>G	uc001uwv.3	+	22	9303	c.8994A>G	c.(8992-8994)acA>acG	p.T2998T		NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	Homo sapiens FRAS1 related extracellular matrix protein 2 (FREM2), mRNA.	2998					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TCGACTCAACACCACTCTTTC	0.403000														49			10		0	0	0.008291	0	0
KLK6	5653	broad.mit.edu	37	19	51465061	51465061	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:51465061C>T	uc002puh.3	-	3	613	c.548G>A	c.(547-549)gGc>gAc	p.G183D	KLK6_uc010eoj.3_Intron|KLK6_uc002pui.3_Missense_Mutation_p.G174D|KLK6_uc002puj.3_Missense_Mutation_p.G67D|KLK6_uc010ycn.2_Missense_Mutation_p.G67D|KLK6_uc002pul.3_Missense_Mutation_p.G174D|KLK6_uc002pum.3_Missense_Mutation_p.G67D	NM_001012965	NP_001012983	Q92876	KLK6_HUMAN	Homo sapiens kallikrein-related peptidase 6 (KLK6), transcript variant C, mRNA.	174	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)		GGTGATCTGGCCAGGGTAGGC	0.572000														39			11		0	0	0.000978	0	0
AK022382	0	broad.mit.edu	37	10	52390546	52390546	+	RNA	SNP	C	T	T	rs142609014	by1000genomes	TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:52390546C>T	uc001jjf.1	+	1		c.1239C>T								Homo sapiens cDNA FLJ12320 fis, clone MAMMA1002082.																		CACTCCTGATCGTAAGTTTCC	0.438000														17			9		0	0	0.004482	0	0
PTRH2	51651	broad.mit.edu	37	17	57774890	57774890	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:57774890C>T	uc002ixt.3	-	1	575	c.450G>A	c.(448-450)caG>caA	p.Q150Q	PTRH2_uc002ixs.3_Non-coding_Transcript	NM_016077	NP_057161	Q9Y3E5	PTH2_HUMAN	Homo sapiens peptidyl-tRNA hydrolase 2 (PTRH2), nuclear gene encoding mitochondrial protein, mRNA.	150					apoptosis|translation	mitochondrion	aminoacyl-tRNA hydrolase activity			large_intestine(1)	1	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					CTGGTGCAATCTGAGTACGTC	0.458000														52			19		0	0	0.006122	0	0
SAV1	60485	broad.mit.edu	37	14	51132153	51132153	+	Silent	SNP	T	C	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:51132153T>C	uc001wyh.1	-	1	617	c.279A>G	c.(277-279)ttA>ttG	p.L93L	SAV1_uc021rsy.1_Non-coding_Transcript	NM_021818	NP_068590	Q9H4B6	SAV1_HUMAN	Homo sapiens salvador homolog 1 (Drosophila) (SAV1), mRNA.	93					hippo signaling cascade	cytoplasm|nucleus	identical protein binding			breast(1)|kidney(2)|lung(2)|prostate(1)	6	all_epithelial(31;0.000611)|Breast(41;0.0333)					AAGGTGCAGATAATCTGTTGC	0.378000														17			12		0	0	0.002450	0	0
PGLYRP2	114770	broad.mit.edu	37	19	15587015	15587015	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:15587015G>A	uc002nbg.3	-	1	599	c.466C>T	c.(466-468)Cca>Tca	p.P156S	PGLYRP2_uc002nbf.4_Missense_Mutation_p.P156S	NM_052890	NP_443122	Q96PD5	PGRP2_HUMAN	Homo sapiens peptidoglycan recognition protein 2 (PGLYRP2), mRNA.	156					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding	p.P156S(3)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						ACAACATCTGGAAAGGTATCT	0.587000														44			24		0	0	0.004656	0	0
OOEP	441161	broad.mit.edu	37	6	74079487	74079487	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:74079487G>A	uc003pgu.4	-	0	29	c.29C>T	c.(28-30)tCc>tTc	p.S10F	OOEP_uc003pgv.4_Intron	NM_001080507	NP_001073976	A6NGQ2	OOEP_HUMAN	Homo sapiens oocyte expressed protein homolog (dog) (OOEP), mRNA.	10						cytoplasm				large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	8						GCCCCGCTGGGACTCAGCGGC	0.662000														57			22		0	0	0.004656	0	0
C6	729	broad.mit.edu	37	5	41181501	41181501	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:41181501T>A	uc003jmk.2	-	6	1097	c.887A>T	c.(886-888)aAt>aTt	p.N296I	C6_uc003jml.1_Missense_Mutation_p.N296I	NM_000065	NP_001108603	P13671	CO6_HUMAN	Homo sapiens complement component 6 (C6), transcript variant 1, mRNA.	296	MACPF.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				GAAGGCAGAATTATGGTTGAT	0.353000														76			32		0	0	0.004878	0	0
SLITRK3	22865	broad.mit.edu	37	3	164906436	164906436	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:164906436G>A	uc003fej.4	-	1	2627	c.2183C>T	c.(2182-2184)tCc>tTc	p.S728F	SLITRK3_uc003fek.3_Missense_Mutation_p.S728F|SLITRK3_uc021xgy.1_Missense_Mutation_p.S728F	NM_014926	NP_055741	O94933	SLIK3_HUMAN	Homo sapiens SLIT and NTRK-like family, member 3 (SLITRK3), mRNA.	728						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						CTCTGGAGAGGAAAGAGTTGG	0.572000										HNSCC(40;0.11)				26			8		0	0	0.003080	0	0
SORCS3	22986	broad.mit.edu	37	10	107022168	107022168	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:107022168G>A	uc001kyi.1	+	25	3750	c.3523G>A	c.(3523-3525)Gaa>Aaa	p.E1175K		NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 3 (SORCS3), mRNA.	1175						integral to membrane	neuropeptide receptor activity	p.E1175K(2)		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)		GAGCCAAAGTGAAAACGCCCC	0.507000														29			8		0	0	0.003080	0	0
CCT6P3	643180	broad.mit.edu	37	7	64526718	64526718	+	RNA	SNP	G	C	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:64526718G>C	uc003ttt.1	+	2		c.435G>C			CCT6P3_uc010kzt.1_Non-coding_Transcript					Homo sapiens chaperonin containing TCP1, subunit 6 (zeta) pseudogene 3 (CCT6P3), non-coding RNA.																		AGTAAGCAGAGAGATGGACAA	0.398000														9			11		0	0	0.001368	0	0
CREG1	8804	broad.mit.edu	37	1	167515373	167515373	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:167515373G>A	uc001gel.3	-	2	702	c.624C>T	c.(622-624)atC>atT	p.I208I		NM_003851	NP_003842	O75629	CREG1_HUMAN	Homo sapiens cellular repressor of E1A-stimulated genes 1 (CREG1), mRNA.	208					cell proliferation|multicellular organismal development|regulation of growth|regulation of transcription from RNA polymerase II promoter	extracellular region	FMN binding|transcription corepressor activity										CTGGTGTCACGATTTTTGGTC	0.428000														19			11		0	0	0.000978	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37506687	37506687	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:37506687G>A	uc021ppc.1	+	32	3079	c.2980G>A	c.(2980-2982)Gaa>Aaa	p.E994K	ANKRD30A_uc001iza.1_Missense_Mutation_p.E994K	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	1050						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						AAAAATTAGGGAAGAATTAGG	0.318000														66			18		0	0	0.006122	0	0
ABCA6	23460	broad.mit.edu	37	17	67080473	67080473	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:67080473C>T	uc002jhw.1	-	33	4459	c.4284G>A	c.(4282-4284)ctG>ctA	p.L1428L		NM_080284	NP_525023	Q8N139	ABCA6_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 6 (ABCA6), mRNA.	1428	ABC transporter 2.				transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					GTGAGTTTCCCAGGAGGCTCA	0.527000														41			28		0	0	0.004656	0	0
FBLN1	2192	broad.mit.edu	37	22	45958920	45958920	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr22:45958920C>T	uc010gzz.3	+	15	2087	c.1940C>T	c.(1939-1941)tCc>tTc	p.S647F	FBLN1_uc003bgh.3_Missense_Mutation_p.S609F|FBLN1_uc003bgi.1_Intron|FBLN1_uc003bgj.1_Intron	NM_001996	NP_001987	P23142	FBLN1_HUMAN	Homo sapiens fibulin 1 (FBLN1), transcript variant C, mRNA.	622					interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		ATGGGCCCCTCCAGTGCTGTC	0.622000														57			32		0	0	0.008361	0	0
PCF11	51585	broad.mit.edu	37	11	82877735	82877735	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:82877735C>T	uc001ozx.4	+	4	2141	c.1796C>T	c.(1795-1797)tCt>tTt	p.S599F	PCF11_uc010rsu.1_Missense_Mutation_p.S599F	NM_015885	NP_056969	O94913	PCF11_HUMAN	Homo sapiens PCF11, cleavage and polyadenylation factor subunit, homolog (S. cerevisiae) (PCF11), mRNA.	599					mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex		p.S599F(1)|p.S698F(1)		cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						AGATGGAAATCTGGTTGGGAA	0.333000														114			49		0	0	0.003610	0	0
HIAT1	64645	broad.mit.edu	37	1	100546060	100546060	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:100546060C>T	uc001dst.3	+	10	1111	c.1111C>T	c.(1111-1113)Caa>Taa	p.Q371*		NM_033055	NP_149044	Q96MC6	HIAT1_HUMAN	Homo sapiens hippocampus abundant transcript 1 (HIAT1), mRNA.	371					transmembrane transport	integral to membrane|plasma membrane	transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|skin(1)	16		all_epithelial(167;2.96e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0832)|all cancers(265;0.136)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.195)		AGGTGTCGTTCAAGGAATGAT	0.363000														77			31		0	0	0.003271	0	0
ZNF575	284346	broad.mit.edu	37	19	44039444	44039444	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:44039444G>A	uc002owq.3	+	4	1447	c.640G>A	c.(640-642)Ggc>Agc	p.G214S	ZNF575_uc002ows.3_Missense_Mutation_p.G115S	NM_174945	NP_777605	Q86XF7	ZN575_HUMAN	Homo sapiens zinc finger protein 575 (ZNF575), mRNA.	115					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|lung(1)|prostate(1)|urinary_tract(1)	4		Prostate(69;0.0199)				CACGCACAGCGGCGCCCGCCC	0.721000														19			9		0	0	0.008291	0	0
LRIT2	340745	broad.mit.edu	37	10	85984339	85984339	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:85984339A>T	uc010qmc.2	-	1	650	c.642T>A	c.(640-642)ttT>ttA	p.F214L	LRIT2_uc001kcy.3_Missense_Mutation_p.F214L	NM_001017924	NP_001017924	A6NDA9	LRIT2_HUMAN	Homo sapiens leucine-rich repeat, immunoglobulin-like and transmembrane domains 2 (LRIT2), mRNA.	214	LRRCT.					integral to membrane		p.Q213K(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1)	32						TGGACTTGACAAACTGGACAA	0.552000														42			13		0	0	0.002450	0	0
ITGAX	3687	broad.mit.edu	37	16	31391899	31391899	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:31391899C>T	uc002ebt.3	+	27	3297	c.3230C>T	c.(3229-3231)tCc>tTc	p.S1077F	ITGAX_uc002ebu.1_Missense_Mutation_p.S1077F	NM_000887	NP_000878	P20702	ITAX_HUMAN	Homo sapiens integrin, alpha X (complement component 3 receptor 4 subunit) (ITGAX), mRNA.	1077					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						TTCGACACATCCGTGTACTCC	0.557000														41			27		0	0	0.002836	0	0
DLGAP2	9228	broad.mit.edu	37	8	1581164	1581164	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:1581164C>T	uc003wpl.3	+	4	1619	c.1522C>T	c.(1522-1524)Ccc>Tcc	p.P508S	DLGAP2_uc003wpm.3_Missense_Mutation_p.P508S	NM_004745	NP_004736	Q9P1A6	DLGP2_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 2 (DLGAP2), mRNA.	587					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding			breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		CGAATGTATTCCCATGATGAC	0.557000														38			10		0	0	0.008291	0	0
ANK2	287	broad.mit.edu	37	4	114264272	114264272	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:114264272G>A	uc003ibe.4	+	33	4322	c.4222G>A	c.(4222-4224)Gaa>Aaa	p.E1408K	ANK2_uc003ibd.4_Missense_Mutation_p.E1399K|ANK2_uc003ibf.4_Missense_Mutation_p.E1408K|ANK2_uc011cgc.2_Missense_Mutation_p.E584K|ANK2_uc003ibg.4_Missense_Mutation_p.E403K|ANK2_uc003ibh.4_Missense_Mutation_p.E82K|ANK2_uc011cgb.1_Missense_Mutation_p.E1423K	NM_001148	NP_001139	Q01484	ANK2_HUMAN	Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA.	1375					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TGCCTTCAAAGAAAATAGACT	0.338000														36			8		0	0	0.006214	0	0
SMAD9	4093	broad.mit.edu	37	13	37453792	37453792	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr13:37453792G>A	uc001uvw.3	-	1	378	c.35C>T	c.(34-36)tCc>tTc	p.S12F	SMAD9_uc001uvx.3_Missense_Mutation_p.S12F|SMAD9_uc010tep.2_5'UTR	NM_001127217	NP_001120689	O15198	SMAD9_HUMAN	Homo sapiens SMAD family member 9 (SMAD9), transcript variant a, mRNA.	12					BMP signaling pathway|transforming growth factor beta receptor signaling pathway	cytosol|transcription factor complex	sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)	18		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)		all cancers(112;3.38e-07)|Epithelial(112;1.93e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00804)|BRCA - Breast invasive adenocarcinoma(63;0.0129)|GBM - Glioblastoma multiforme(144;0.026)		GCTGGTGAAGGAGAAGAGGGA	0.597000														33			13		0	0	0.003163	0	0
ABHD3	171586	broad.mit.edu	37	18	19239241	19239241	+	Silent	SNP	A	C	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr18:19239241A>C	uc002ktl.2	-	5	872	c.732T>G	c.(730-732)acT>acG	p.T244T	ABHD3_uc010xao.1_Non-coding_Transcript|ABHD3_uc002ktk.2_Silent_p.T49T|ABHD3_uc002ktn.2_Silent_p.T21T	NM_138340	NP_612213	Q8WU67	ABHD3_HUMAN	Homo sapiens abhydrolase domain containing 3 (ABHD3), mRNA.	244						integral to membrane	carboxylesterase activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|prostate(2)	10						CAACGGAAAAAGTTGCAGCTG	0.408000														47			25		0	0	0.005443	0	0
ATP5F1	515	broad.mit.edu	37	1	111996918	111996918	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:111996918C>T	uc009wgf.1	+	3	620	c.604C>T	c.(604-606)Cgt>Tgt	p.R202C	ATP5F1_uc001ebc.3_Missense_Mutation_p.R55C	NM_001688	NP_001679	P24539	AT5F1_HUMAN	Homo sapiens ATP synthase, H+ transporting, mitochondrial Fo complex, subunit B1 (ATP5F1), nuclear gene encoding mitochondrial protein, mRNA.	55					ATP catabolic process|respiratory electron transport chain	mitochondrial matrix|mitochondrial proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transporting ATP synthase activity, rotational mechanism|protein binding	p.R55C(1)		breast(1)|cervix(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	8		all_cancers(81;8.16e-06)|all_epithelial(167;5.63e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|Colorectal(144;0.0296)|all cancers(265;0.0488)|Epithelial(280;0.0732)|COAD - Colon adenocarcinoma(174;0.114)|LUSC - Lung squamous cell carcinoma(189;0.135)		AGGAAAAGTTCGTTATGGACT	0.438000														91			34		0	0	0.002445	0	0
TGM6	343641	broad.mit.edu	37	20	2381043	2381043	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr20:2381043G>A	uc002wfy.1	+	6	1003	c.942G>A	c.(940-942)gtG>gtA	p.V314V	TGM6_uc010gal.1_Silent_p.V314V	NM_198994	NP_945345	O95932	TGM3L_HUMAN	Homo sapiens transglutaminase 6 (TGM6), transcript variant 1, mRNA.	314					cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	ACAAATACGTGGACTCCTTCG	0.617000														43			32		0	0	0.005524	0	0
UBE3B	89910	broad.mit.edu	37	12	109947476	109947476	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:109947476C>T	uc001top.3	+	15	2301	c.1698C>T	c.(1696-1698)ttC>ttT	p.F566F	UBE3B_uc001toq.3_Silent_p.F566F|UBE3B_uc001tos.3_5'UTR|UBE3B_uc001too.1_Non-coding_Transcript|UBE3B_uc009zvj.1_Silent_p.F566F	NM_130466	NP_904324	Q7Z3V4	UBE3B_HUMAN	Homo sapiens ubiquitin protein ligase E3B (UBE3B), transcript variant 1, mRNA.	566					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity	p.S565P(1)		NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						TCTCCTCTTTCCTGAATTCTT	0.408000														50			30		0	0	0.007291	0	0
SNX29	92017	broad.mit.edu	37	16	12371844	12371844	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:12371844G>A	uc002dby.4	+	14	1795	c.578G>A	c.(577-579)gGa>gAa	p.G193E		NM_032167	NP_115543	Q8TEQ0	SNX29_HUMAN	Homo sapiens sorting nexin 29 (SNX29), mRNA.	193					cell communication		phosphatidylinositol binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	7						CAGAAGCCGGGAGAAATTGCT	0.443000														4			5		0	0	0.001984	0	0
PDE10A	10846	broad.mit.edu	37	6	165832214	165832214	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:165832214C>T	uc003qun.3	-	11	1122	c.877G>A	c.(877-879)Gac>Aac	p.D293N	PDE10A_uc011egj.2_Non-coding_Transcript|PDE10A_uc011egk.2_Missense_Mutation_p.D223N|PDE10A_uc003quo.3_Missense_Mutation_p.D303N	NM_006661	NP_006652	Q9Y233	PDE10_HUMAN	RecName: Full=cAMP and cAMP-inhibited cGMP 3',5'-cyclic phosphodiesterase 10A;          EC=3.1.4.17;          EC=3.1.4.35;	293	GAF 2.				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding			breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Dipyridamole(DB00975)	TTCTTATGGTCCACCTGGAAA	0.378000														25			11		0	0	0.001855	0	0
CYP7B1	9420	broad.mit.edu	37	8	65528455	65528455	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:65528455C>T	uc003xvj.2	-	2	847	c.643G>A	c.(643-645)Gat>Aat	p.D215N		NM_004820	NP_004811	O75881	CP7B1_HUMAN	Homo sapiens cytochrome P450, family 7, subfamily B, polypeptide 1 (CYP7B1), mRNA.	215					bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)				TTTAAAAAATCATCTCTTAGC	0.284000														39			16		0	0	0.003163	0	0
GTF3C1	2975	broad.mit.edu	37	16	27503759	27503759	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:27503759G>A	uc002dov.2	-	18	3091	c.3051C>T	c.(3049-3051)agC>agT	p.S1017S	GTF3C1_uc002dou.3_Silent_p.S1017S	NM_001520	NP_001511	Q12789	TF3C1_HUMAN	Homo sapiens general transcription factor IIIC, polypeptide 1, alpha 220kDa (GTF3C1), mRNA.	1017				ARSS -> GRRR (in Ref. 1; AAA17985).		transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						AGGGCCGGCTGCTGCGGGCCA	0.532000														61			16		0	0	0.001882	0	0
GABRB3	2562	broad.mit.edu	37	15	26806324	26806324	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:26806324C>T	uc001zbb.3	-	9	1107	c.1004_splice	c.e9-1	p.G335_splice	GABRB3_uc021sgg.1_Splice_Site_p.G208_splice|GABRB3_uc021sgh.1_Splice_Site_p.G194_splice|GABRB3_uc001zaz.3_Splice_Site_p.G279_splice|GABRB3_uc001zba.3_Splice_Site_p.G279_splice	NM_001191320	NP_001178249	P28472	GBRB3_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 3 (GABRB3), transcript variant 3, mRNA.	279					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	GTTGTGATCCCTAGAAAAGAA	0.428000														60			34		0	0	0.004878	0	0
SCG3	29106	broad.mit.edu	37	15	51984448	51984448	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:51984448G>A	uc002abh.3	+	6	1186	c.783G>A	c.(781-783)agG>agA	p.R261R	SCG3_uc010ufz.2_Silent_p.R29R	NM_013243	NP_001158729	Q8WXD2	SCG3_HUMAN	Homo sapiens secretogranin III (SCG3), transcript variant 1, mRNA.	261					platelet activation|platelet degranulation	extracellular region|stored secretory granule				breast(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				all cancers(107;0.00488)		GCTTGGAAAGGAGAACTAAAA	0.403000														59			29		0	0	0.005443	0	0
PCLO	27445	broad.mit.edu	37	7	82579670	82579670	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:82579670T>C	uc003uhx.2	-	5	10523	c.10234A>G	c.(10234-10236)Aag>Gag	p.K3412E	PCLO_uc003uhv.2_Missense_Mutation_p.K3412E|PCLO_uc010lec.3_Missense_Mutation_p.K377E	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	3343					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GAACTTCTCTTTTTGGGTTGT	0.418000														80			28		0	0	0.007291	0	0
LIPF	8513	broad.mit.edu	37	10	90428403	90428403	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:90428403C>T	uc001kfg.2	+	3	426	c.312C>T	c.(310-312)ttC>ttT	p.F104F	LIPF_uc009xtk.3_Silent_p.F104F|LIPF_uc001kfh.2_Intron|LIPF_uc010qmt.2_Silent_p.F114F|LIPF_uc010qmu.2_Intron	NM_004190	NP_004181	P07098	LIPG_HUMAN	Homo sapiens lipase, gastric (LIPF), transcript variant 2, mRNA.	104					lipid catabolic process|triglyceride metabolic process	extracellular region	lipid binding|triglyceride lipase activity			NS(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(6)	13		Colorectal(252;0.0161)		Colorectal(12;3.91e-05)|COAD - Colon adenocarcinoma(12;5.43e-05)		GCCTTGCCTTCATTCTGGCAG	0.473000														45			16		0	0	0.004007	0	0
DAO	1610	broad.mit.edu	37	12	109288048	109288048	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:109288048G>A	uc001tnr.4	+	6	1188	c.517G>A	c.(517-519)Gaa>Aaa	p.E173K	DAO_uc001tnq.4_Missense_Mutation_p.E107K|DAO_uc009zvb.3_Non-coding_Transcript|DAO_uc001tns.4_Non-coding_Transcript	NM_001917	NP_001908	P14920	OXDA_HUMAN	Homo sapiens D-amino-acid oxidase (DAO), mRNA.	173					glyoxylate metabolic process	peroxisomal matrix	D-amino-acid oxidase activity|binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|skin(1)	26						GGTGGCAAGAGAAGGCGCAGA	0.582000														23			7		0	0	0.004482	0	0
DAPL1	92196	broad.mit.edu	37	2	159672313	159672313	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:159672313C>T	uc002uaf.3	+	3	360	c.304C>T	c.(304-306)Cag>Tag	p.Q102*		NM_001017920	NP_001017920	A0PJW8	DAPL1_HUMAN	Homo sapiens death associated protein-like 1 (DAPL1), mRNA.	102					apoptosis|cell differentiation					prostate(1)	1						CTACATTATTCAGCAGCCTCG	0.443000														34			17		0	0	0.008871	0	0
MUC16	94025	broad.mit.edu	37	19	9077502	9077502	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:9077502G>A	uc002mkp.3	-	2	10148	c.9944C>T	c.(9943-9945)tCc>tTc	p.S3315F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	3316	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						TGACTCTAGGGAGACAGAGGA	0.527000														47			25		0	0	0.003954	0	0
BICD1	636	broad.mit.edu	37	12	32491907	32491907	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:32491907C>T	uc001rku.3	+	7	2839	c.2758C>T	c.(2758-2760)Cca>Tca	p.P920S	BICD1_uc001rkv.3_Intron|BICD1_uc010skd.2_Non-coding_Transcript	NM_001714	NP_001705	Q96G01	BICD1_HUMAN	Homo sapiens bicaudal D homolog 1 (Drosophila) (BICD1), transcript variant 1, mRNA.	920					RNA processing|anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|stress granule assembly|viral reproduction	cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network	Rab GTPase binding|cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|structural constituent of cytoskeleton			NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)			AACCGTGGCTCCACCAGGTAA	0.502000														37			12		0	0	0.001368	0	0
ASB11	140456	broad.mit.edu	37	X	15311435	15311436	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chrX:15311435_15311436CC>TT	uc004cwp.2	-	3	395_396	c.376_377GG>AA	c.(376-378)gga>AAa	p.G126K	ASB11_uc004cwo.2_Missense_Mutation_p.G105K|ASB11_uc010net.2_Missense_Mutation_p.G109K|ASB11_uc010nes.2_Non-coding_Transcript	NM_080873	NP_543149	Q8WXH4	ASB11_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 11 (ASB11), transcript variant 1, mRNA.	126					intracellular signal transduction					breast(2)|central_nervous_system(4)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|skin(1)	16	Hepatocellular(33;0.183)					AACTGTCACTCCATTGACCTAA	0.495000														19			46		0	0	0.004672	0	0
IQCC	55721	broad.mit.edu	37	1	32673255	32673255	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:32673255C>T	uc009vua.2	+	4	1260	c.1213C>T	c.(1213-1215)Ccc>Tcc	p.P405S	IQCC_uc001bum.2_Missense_Mutation_p.P325S|IQCC_uc010ogz.1_Missense_Mutation_p.P225S|DCDC2B_uc001bun.2_5'Flank	NM_001160042	NP_001153514	Q4KMZ1	IQCC_HUMAN	Homo sapiens IQ motif containing C (IQCC), transcript variant 1, mRNA.	325										endometrium(4)|large_intestine(1)|lung(3)|ovary(4)|skin(2)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				GGACCAGACCCCCAGAGGTTT	0.532000														47			26		0	0	0.004656	0	0
PGLYRP2	114770	broad.mit.edu	37	19	15586981	15586981	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:15586981G>A	uc002nbg.3	-	1	633	c.500C>T	c.(499-501)gCc>gTc	p.A167V	PGLYRP2_uc002nbf.4_Missense_Mutation_p.A167V	NM_052890	NP_443122	Q96PD5	PGRP2_HUMAN	Homo sapiens peptidoglycan recognition protein 2 (PGLYRP2), mRNA.	167					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						GGAGGAGGTGGCTCTTACATC	0.542000														64			29		0	0	0.007291	0	0
SYMPK	8189	broad.mit.edu	37	19	46318830	46318830	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:46318830C>T	uc002pdn.3	-	26	4058	c.3813G>A	c.(3811-3813)aaG>aaA	p.K1271K	RSPH6A_uc002pdm.3_5'Flank	NM_004819	NP_004810	Q92797	SYMPK_HUMAN	Homo sapiens symplekin (SYMPK), mRNA.	1271					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)		AGCTGTTCCCCTTGGCCTCGG	0.667000														12			5		0	0	0.001984	0	0
ERBB4	2066	broad.mit.edu	37	2	212495282	212495282	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:212495282A>C	uc002veg.1	-	16	2082	c.1984T>G	c.(1984-1986)Ttc>Gtc	p.F662V	ERBB4_uc002veh.1_Missense_Mutation_p.F662V|ERBB4_uc010zji.1_Missense_Mutation_p.F652V|ERBB4_uc010zjj.1_Missense_Mutation_p.F652V|ERBB4_uc010fut.1_Missense_Mutation_p.F662V	NM_005235	NP_005226	Q15303	ERBB4_HUMAN	Homo sapiens v-erb-a erythroblastic leukemia viral oncogene homolog 4 (avian) (ERBB4), transcript variant JM-a/CVT-1, mRNA.	662					cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	p.F662L(2)|p.L661V(1)		NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		ACCAGAATGAAGAGCCCACCA	0.403000										TSP Lung(8;0.080)				65			21		0	0	0.002780	0	0
C6	729	broad.mit.edu	37	5	41199978	41199978	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:41199978C>A	uc003jmk.2	-	3	547	c.337G>T	c.(337-339)Ggg>Tgg	p.G113W	C6_uc003jml.1_Missense_Mutation_p.G113W	NM_000065	NP_001108603	P13671	CO6_HUMAN	Homo sapiens complement component 6 (C6), transcript variant 1, mRNA.	113	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)				GGCTGTCCCCCAAACTGACTG	0.448000														31			11		0.00829132	0.00994047	0.008291	1	0
KBTBD8	84541	broad.mit.edu	37	3	67054579	67054579	+	Silent	SNP	A	C	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:67054579A>C	uc003dmy.3	+	2	1241	c.1188A>C	c.(1186-1188)ggA>ggC	p.G396G	KBTBD8_uc011bfv.2_Intron	NM_032505	NP_115894	Q8NFY9	KBTB8_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 8 (KBTBD8), mRNA.	396										breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)	20		Lung NSC(201;0.0765)		BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125)		ATGCAATCGGAGGTCGTGTTT	0.443000														66			85		0	0	0.003610	0	0
PZP	5858	broad.mit.edu	37	12	9305511	9305511	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:9305511C>T	uc001qvl.3	-	30	4059	c.4030G>A	c.(4030-4032)Gac>Aac	p.D1344N	PZP_uc009zgl.3_Missense_Mutation_p.D1130N	NM_002864	NP_002855			Homo sapiens pregnancy-zone protein (PZP), mRNA.											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						AATGGGGAGTCCTCTTTCTCT	0.443000														64			27		0	0	0.003954	0	0
HTT	3064	broad.mit.edu	37	4	3148568	3148568	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:3148568C>T	uc021xkv.1	+	24	3333	c.3188C>T	c.(3187-3189)aCc>aTc	p.T1063I		NM_002111	NP_002102	P42858	HD_HUMAN	Homo sapiens huntingtin (HTT), mRNA.	1063					Golgi organization|establishment of mitotic spindle orientation|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	Golgi apparatus|autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		AAGAGCTGTACCGTTGGGATG	0.463000														268			65		0	0	0.003610	0	0
EPHA7	2045	broad.mit.edu	37	6	94129030	94129030	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:94129030C>T	uc003poe.3	-	0	271	c.30G>A	c.(28-30)tgG>tgA	p.W10*	EPHA7_uc003pof.3_Nonsense_Mutation_p.W10*|EPHA7_uc011eac.2_Nonsense_Mutation_p.W10*|EPHA7_uc003pog.4_Nonsense_Mutation_p.W10*	NM_004440	NP_004431	Q15375	EPHA7_HUMAN	Homo sapiens EPH receptor A7 (EPHA7), mRNA.	10						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)		ATAAAATAATCCATGAAGGGT	0.448000														48			18		0	0	0.001523	0	0
ZNF391	346157	broad.mit.edu	37	6	27369111	27369111	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:27369111T>A	uc003njf.1	+	2	1480	c.962T>A	c.(961-963)aTt>aAt	p.I321N	ZNF391_uc021ypw.1_Missense_Mutation_p.I321N	NM_001076781	NP_001070249	Q9UJN7	ZN391_HUMAN	Homo sapiens zinc finger protein 391 (ZNF391), mRNA.	321					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|large_intestine(6)|lung(7)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1)	21						TCATCCCTTATTATTCATCAG	0.463000														38			15		0	0	0.004990	0	0
MAP1B	4131	broad.mit.edu	37	5	71494434	71494434	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:71494434C>T	uc003kbw.4	+	4	5493	c.5252C>T	c.(5251-5253)tCc>tTc	p.S1751F	MAP1B_uc010iyw.1_Missense_Mutation_p.S1768F|MAP1B_uc010iyx.1_Missense_Mutation_p.S1625F|MAP1B_uc010iyy.1_Missense_Mutation_p.S1625F	NM_005909	NP_005900	P46821	MAP1B_HUMAN	Homo sapiens microtubule-associated protein 1B (MAP1B), mRNA.	1751						microtubule|microtubule associated complex	structural molecule activity	p.S1751S(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		GATACTCTATCCGATGTTGCT	0.483000														97			47		0	0	0.003610	0	0
RNF40	9810	broad.mit.edu	37	16	30779532	30779533	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:30779532_30779533CC>TT	uc002dzq.3	+	12	2480_2481	c.1660_1661CC>TT	c.(1660-1662)cct>TTt	p.P554F	RNF40_uc010caa.3_Missense_Mutation_p.P554F|RNF40_uc010cab.3_Missense_Mutation_p.P454F|RNF40_uc010vfa.2_Intron|RNF40_uc010vfb.2_Missense_Mutation_p.P246F|RNF40_uc002dzr.3_Missense_Mutation_p.P554F|RNF40_uc010vfc.1_5'Flank	NM_014771	NP_055586	O75150	BRE1B_HUMAN	Homo sapiens ring finger protein 40 (RNF40), transcript variant 1, mRNA.	554					histone H2B ubiquitination|histone monoubiquitination|ubiquitin-dependent protein catabolic process	nucleus|synaptosome|ubiquitin ligase complex	protein homodimerization activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)	30			Colorectal(24;0.198)			TGGGCCAGGCCCTGTCAGTACC	0.634000														32			12		0	0	0.004672	0	0
AK7	122481	broad.mit.edu	37	14	96871137	96871137	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:96871137A>G	uc001yfn.2	+	2	382	c.338A>G	c.(337-339)gAt>gGt	p.D113G		NM_152327	NP_689540	Q96M32	KAD7_HUMAN	Homo sapiens adenylate kinase 7 (AK7), mRNA.	113					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)		CTGGAGTGTGATGTTATTATT	0.458000														49			34		0	0	0.007835	0	0
BCO2	83875	broad.mit.edu	37	11	112086944	112086944	+	Splice_Site	SNP	T	C	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:112086944T>C	uc001pnf.3	+	11	1633	c.1516_splice	c.e11-1	p.V506_splice	BCO2_uc001png.3_Splice_Site_p.V433_splice|BCO2_uc001pnh.3_Splice_Site_p.V472_splice|BCO2_uc010rwt.2_Splice_Site_p.V401_splice|BCO2_uc009yyn.3_Splice_Site_p.V466_splice|BCO2_uc001pni.3_Splice_Site_p.V472_splice	NM_031938	NP_001032367	Q9BYV7	BCDO2_HUMAN	Homo sapiens beta-carotene oxygenase 2 (BCO2), transcript variant 1, mRNA.	506					carotene metabolic process|retinal metabolic process|retinoic acid metabolic process		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1)	16						GACTTGCAGGTTTGGAGAGAA	0.423000														68			28		0	0	0.001786	0	0
ZSCAN18	65982	broad.mit.edu	37	19	58600174	58600174	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:58600174G>A	uc010yht.1	-	2	632	c.602C>T	c.(601-603)tCc>tTc	p.S201F	ZSCAN18_uc002qrj.3_Missense_Mutation_p.S145F|ZSCAN18_uc010yhs.1_Missense_Mutation_p.S10F|ZSCAN18_uc002qrh.2_Missense_Mutation_p.S145F|ZSCAN18_uc002qri.2_Missense_Mutation_p.S145F|ZSCAN18_uc002qrk.1_Missense_Mutation_p.S145F|ZSCAN18_uc002qrl.2_Missense_Mutation_p.S145F	NM_001145542	NP_001139014	Q8TBC5	ZSC18_HUMAN	Homo sapiens zinc finger and SCAN domain containing 18 (ZSCAN18), transcript variant 1, mRNA.	145					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3)	19		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		AAGAATTGAGGATGAGCCCGC	0.597000														42			12		0	0	0.001855	0	0
MYL2	4633	broad.mit.edu	37	12	111350900	111350900	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:111350900C>T	uc001try.4	-	6	473	c.402_splice	c.e6+1	p.E134_splice	MYL2_uc001trx.4_Splice_Site_p.E115_splice	NM_000432	NP_000423	P10916	MLRV_HUMAN	Homo sapiens myosin, light chain 2, regulatory, cardiac, slow (MYL2), mRNA.	134	EF-hand 3.				cardiac myofibril assembly|heart contraction|muscle filament sliding|negative regulation of cell growth|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	cytosol|myosin complex|sarcomere	actin monomer binding|calcium ion binding|myosin heavy chain binding|structural constituent of muscle	p.E134D(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)	12						ACCCCATTACCTCCTCCTTGG	0.587000														43			25		0	0	0.002836	0	0
CHD4	1108	broad.mit.edu	37	12	6703773	6703773	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:6703773G>A	uc001qpo.3	-	14	2329	c.2165C>T	c.(2164-2166)aCa>aTa	p.T722I	CHD4_uc001qpn.3_Missense_Mutation_p.T715I|CHD4_uc001qpp.3_Missense_Mutation_p.T719I	NM_001273	NP_001264	Q14839	CHD4_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 4 (CHD4), mRNA.	722					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	NuRD complex|microtubule organizing center	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						GGTTCCACCTGTAGCATCCAG	0.542000														50			22		0	0	0.003330	0	0
FMO1	2326	broad.mit.edu	37	1	171254561	171254561	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:171254561G>A	uc009wvz.3	+	8	1613	c.1477G>A	c.(1477-1479)Gac>Aac	p.D493N	FMO1_uc010pme.2_Missense_Mutation_p.D430N|FMO1_uc001ghl.3_Missense_Mutation_p.D493N|FMO1_uc001ghm.3_Missense_Mutation_p.D493N	NM_002021	NP_002012	Q01740	FMO1_HUMAN	Homo sapiens flavin containing monooxygenase 1 (FMO1), mRNA.	493					NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	NADP binding|flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GACCCAGTGGGACCGAACATT	0.493000														38			16		0	0	0.004990	0	0
TFRC	7037	broad.mit.edu	37	3	195794506	195794506	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:195794506G>A	uc003fvz.4	-	8	1206	c.923C>T	c.(922-924)cCt>cTt	p.P308L	TFRC_uc003fwa.4_Missense_Mutation_p.P308L|TFRC_uc010hzy.3_Missense_Mutation_p.P227L|TFRC_uc011btr.2_Missense_Mutation_p.P26L	NM_003234	NP_003225	P02786	TFR1_HUMAN	Homo sapiens transferrin receptor (p90, CD71) (TFRC), transcript variant 1, mRNA.	308	PA.				cellular iron ion homeostasis|endocytosis|interspecies interaction between organisms|proteolysis|transferrin transport|transmembrane transport	coated pit|endosome|integral to plasma membrane|melanosome	peptidase activity|transferrin receptor activity			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_cancers(143;1.94e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.36e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.17e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00233)		AGGTGTGTAAGGGTCACCTGT	0.453000			T	BCL6	NHL									48			24		0	0	0.004656	0	0
FLG	2312	broad.mit.edu	37	1	152277770	152277770	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:152277770C>T	uc001ezu.1	-	2	9628	c.9592G>A	c.(9592-9594)Gtc>Atc	p.V3198I		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	3198	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTCCCTGGACTGCCTGTGAG	0.547000									Ichthyosis					107			36		0	0	0.006999	0	0
SLC39A12	221074	broad.mit.edu	37	10	18270240	18270240	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:18270240G>A	uc001ipo.2	+	6	1198	c.925_splice	c.e6-1	p.T309_splice	SLC39A12_uc001ipn.2_Splice_Site_p.T309_splice|SLC39A12_uc001ipp.2_Splice_Site_p.T309_splice|SLC39A12_uc010qck.1_Splice_Site_p.T175_splice	NM_001145195	NP_001138667	Q504Y0	S39AC_HUMAN	Homo sapiens solute carrier family 39 (zinc transporter), member 12 (SLC39A12), transcript variant 1, mRNA.	309					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						TCCTCACACAGACCTGCTTCT	0.428000														53			13		0	0	0.004007	0	0
OGDHL	55753	broad.mit.edu	37	10	50952058	50952058	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:50952058C>A	uc009xog.3	-	12	1958	c.1924G>T	c.(1924-1926)Gac>Tac	p.D642Y	OGDHL_uc001jie.3_Missense_Mutation_p.D615Y|OGDHL_uc010qgt.2_Missense_Mutation_p.D558Y|OGDHL_uc010qgu.2_Missense_Mutation_p.D406Y|OGDHL_uc009xoh.2_Missense_Mutation_p.D406Y	NM_001143997	NP_001137469	Q9ULD0	OGDHL_HUMAN	Homo sapiens oxoglutarate dehydrogenase-like (OGDHL), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.	615					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	p.A641A(1)		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						ATCTTAAAGTCCTCCAGGGGC	0.617000														20			10		1.76689e-08	2.13396e-08	0.006214	1	0
PCDHAC2	56134	broad.mit.edu	37	5	140256672	140256672	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:140256672G>A	uc003lic.2	+	0	1742	c.1615G>A	c.(1615-1617)Gac>Aac	p.D539N	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc011daf.2_Missense_Mutation_p.D539N	NM_018903	NP_061726	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 12 (PCDHA12), transcript variant 1, mRNA.	553	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)			GAGCGCGCGCGACGCCGGCGT	0.692000														96			41		0	0	0.002522	0	0
NEO1	4756	broad.mit.edu	37	15	73528761	73528761	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:73528761C>T	uc002avm.4	+	7	1557	c.1365C>T	c.(1363-1365)atC>atT	p.I455I	NEO1_uc010ukx.2_Silent_p.I455I|NEO1_uc010uky.2_Silent_p.I455I|NEO1_uc002avn.4_Silent_p.I475I|NEO1_uc010ukz.2_5'UTR	NM_002499	NP_002490	Q92859	NEO1_HUMAN	Homo sapiens neogenin 1 (NEO1), transcript variant 1, mRNA.	455	Fibronectin type-III 1.				axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus		p.I455M(4)		NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						CCCGCTTCATCAAATTGACGT	0.552000														62			9		0	0	0.004482	0	0
TPD52L3	89882	broad.mit.edu	37	9	6328868	6328868	+	Silent	SNP	A	G	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:6328868A>G	uc003zjw.3	+	0	520	c.273A>G	c.(271-273)aaA>aaG	p.K91K	TPD52L3_uc003zjv.3_Silent_p.K91K|TPD52L3_uc003zjx.2_Silent_p.K91K	NM_033516	NP_277051	Q96J77	TPD55_HUMAN	Homo sapiens tumor protein D52-like 3 (TPD52L3), transcript variant 1, mRNA.	91							protein binding			large_intestine(1)|lung(9)|skin(1)	11		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0198)|Lung(218;0.1)		CCTATGTGAAACAGAAGACAT	0.517000														32			21		0	0	0.001882	0	0
JPH3	57338	broad.mit.edu	37	16	87717835	87717835	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:87717835C>T	uc002fkd.3	+	2	1502	c.1248C>T	c.(1246-1248)gcC>gcT	p.A416A	JPH3_uc010vou.1_Non-coding_Transcript	NM_020655	NP_065706	Q8WXH2	JPH3_HUMAN	Homo sapiens junctophilin 3 (JPH3), mRNA.	416	Ala-rich.				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane	protein binding	p.T415S(1)|p.T415I(1)|p.T415F(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(80;0.0287)		GGATCACTGCCAAAGAGTTCT	0.652000														19			8		0	0	0.004482	0	0
UGT3A1	133688	broad.mit.edu	37	5	35991297	35991297	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:35991297C>T	uc003jjv.2	-	0	239	c.46G>A	c.(46-48)Ggg>Agg	p.G16R	UGT3A1_uc003jjw.2_Non-coding_Transcript|UGT3A1_uc011coq.2_Missense_Mutation_p.G16R|UGT3A1_uc011cor.2_Missense_Mutation_p.G16R|UGT3A1_uc003jjy.2_Intron	NM_152404	NP_689617	Q6NUS8	UD3A1_HUMAN	Homo sapiens UDP glycosyltransferase 3 family, polypeptide A1 (UGT3A1), transcript variant 1, mRNA.	16						integral to membrane	glucuronosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AGCAGGACCCCAGAAAGAAGG	0.622000														57			17		0	0	0.007413	0	0
PGLYRP2	114770	broad.mit.edu	37	19	15579529	15579529	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:15579529T>C	uc002nbf.4	-	4	1809	c.1676A>G	c.(1675-1677)aAg>aGg	p.K559R		NM_052890	NP_443122	Q96PD5	PGRP2_HUMAN	Homo sapiens peptidoglycan recognition protein 2 (PGLYRP2), mRNA.	559					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						CCTGGATCTCTTAGAGACACT	0.532000														117			48		0	0	0.003610	0	0
KATNB1	10300	broad.mit.edu	37	16	57775606	57775606	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:57775606C>T	uc002eml.1	+	2	422	c.48C>T	c.(46-48)atC>atT	p.I16I		NM_005886	NP_005877	Q9BVA0	KTNB1_HUMAN	Homo sapiens katanin p80 (WD repeat containing) subunit B 1 (KATNB1), mRNA.	16	Interaction with centrosomes.|Interaction with dynein (By similarity).				cell division|mitosis|negative regulation of microtubule depolymerization|positive regulation of microtubule depolymerization|protein targeting	katanin complex|microtubule|spindle pole	microtubule binding|protein heterodimerization activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_neural(199;0.223)				TAGAAGAGATCGTCGCGCATG	0.652000														32			8		0	0	0.006214	0	0
CCDC147	159686	broad.mit.edu	37	10	106139928	106139928	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:106139928G>A	uc001kyh.3	+	8	1449	c.1315G>A	c.(1315-1317)Gaa>Aaa	p.E439K		NM_001008723	NP_001008723	Q5T655	CC147_HUMAN	Homo sapiens coiled-coil domain containing 147 (CCDC147), mRNA.	439										NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		CTTTCATCTGGAAAAGGAGCG	0.493000														67			25		0	0	0.008361	0	0
FETUB	26998	broad.mit.edu	37	3	186370277	186370278	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:186370277_186370278GG>AA	uc010hyq.3	+	7	1267_1268	c.1006_1007GG>AA	c.(1006-1008)gga>AAa	p.G336K	FETUB_uc011brz.2_Missense_Mutation_p.G188K|FETUB_uc003fqn.3_Missense_Mutation_p.G336K|FETUB_uc010hyr.3_Missense_Mutation_p.G299K|FETUB_uc010hys.3_Missense_Mutation_p.G188K|FETUB_uc003fqp.4_Missense_Mutation_p.G271K	NM_014375	NP_055190	Q9UGM5	FETUB_HUMAN	Homo sapiens fetuin B (FETUB), mRNA.	336						extracellular space	cysteine-type endopeptidase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)	20	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0479)		GAATCCCCAGGGAGAAACCCTG	0.515000														63			27		0	0	0.004672	0	0
SLC35B3	51000	broad.mit.edu	37	6	8419894	8419894	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:8419894G>A	uc011did.2	-	6	1076	c.699C>T	c.(697-699)tcC>tcT	p.S233S	SLC35B3_uc003myc.3_Non-coding_Transcript|SLC35B3_uc003myd.3_Non-coding_Transcript|SLC35B3_uc010joe.3_Silent_p.S233S|SLC35B3_uc003myb.3_Silent_p.S233S	NM_001142540	NP_057032	Q9H1N7	S35B3_HUMAN	Homo sapiens solute carrier family 35, member B3 (SLC35B3), transcript variant 2, mRNA.	233					transmembrane transport	Golgi membrane|integral to membrane				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(1)|prostate(1)	15	Ovarian(93;0.0569)					ATAGTGCCAGGGAAATAAGCA	0.323000														65			31		0	0	0.002836	0	0
ZNF283	284349	broad.mit.edu	37	19	44351942	44351942	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:44351942C>T	uc002oxr.4	+	6	1457	c.1189C>T	c.(1189-1191)Cat>Tat	p.H397Y	ZNF283_uc002oxp.4_Missense_Mutation_p.H258Y	NM_181845	NP_862828	Q8N7M2	ZN283_HUMAN	Homo sapiens zinc finger protein 283 (ZNF283), mRNA.	397					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(3)|lung(4)	8		Prostate(69;0.0352)				TCAGATATTTCATACTGGTGA	0.373000														96			57		0	0	0.003610	0	0
MEF2D	4209	broad.mit.edu	37	1	156437973	156437973	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:156437973G>A	uc001fpc.3	-	10	1756	c.1366C>T	c.(1366-1368)Cca>Tca	p.P456S	MEF2D_uc001fpb.3_Missense_Mutation_p.P449S|MEF2D_uc001fpd.3_Missense_Mutation_p.P449S|MEF2D_uc009wsa.3_Non-coding_Transcript|MEF2D_uc001fpe.1_Missense_Mutation_p.P456S	NM_005920	NP_005911	Q14814	MEF2D_HUMAN	Homo sapiens myocyte enhancer factor 2D (MEF2D), mRNA.	456	Poly-Pro.				apoptosis|muscle organ development|nervous system development|positive regulation of transcription from RNA polymerase II promoter	nucleus	RNA polymerase II regulatory region sequence-specific DNA binding|activating transcription factor binding|histone deacetylase binding|sequence-specific DNA binding RNA polymerase II transcription factor activity			endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	15	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					AACACAGCTGGAGGGGGAGGC	0.682000														39			12		0	0	0.001368	0	0
GBA3	57733	broad.mit.edu	37	4	22749697	22749697	+	Silent	SNP	A	G	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:22749697A>G	uc003gqp.4	+	2	1156	c.1065A>G	c.(1063-1065)aaA>aaG	p.K355K	GBA3_uc010iep.3_Intron|GBA3_uc011bxo.2_Silent_p.K356K	NM_020973	NP_066024	Q9H227	GBA3_HUMAN	Homo sapiens glucosidase, beta, acid 3 (cytosolic) (GBA3), transcript variant 1, mRNA.	355					glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity			breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						GAGTATGTAAACTACTGAAAT	0.363000														8			7		0	0	0.003080	0	0
SULT1C4	27233	broad.mit.edu	37	2	108999957	108999957	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:108999957C>T	uc002tea.1	+	4	979	c.606C>T	c.(604-606)gaC>gaT	p.D202D	SULT1C4_uc010ywr.1_Non-coding_Transcript|SULT1C4_uc002teb.1_Silent_p.D127D	NM_006588	NP_006579	O75897	ST1C4_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 1C, member 4 (SULT1C4), mRNA.	202					3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process	cytosol	sulfotransferase activity			endometrium(1)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	12						TCTATGAGGACATGAAGAAGG	0.478000														32			7		0	0	0.004482	0	0
ADAM29	11086	broad.mit.edu	37	4	175897017	175897017	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:175897017T>A	uc003iuc.3	+	4	1011	c.341T>A	c.(340-342)gTt>gAt	p.V114D	ADAM29_uc003iud.3_Missense_Mutation_p.V114D|ADAM29_uc010irr.3_Missense_Mutation_p.V114D|ADAM29_uc011cki.2_Missense_Mutation_p.V114D|ADAM29_uc021xuo.1_Missense_Mutation_p.V114D	NM_014269	NP_055084	Q9UKF5	ADA29_HUMAN	Homo sapiens ADAM metallopeptidase domain 29 (ADAM29), transcript variant 1, mRNA.	114					proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		GAATCCCTGGTTTCCCTCAGT	0.438000														44			14		0	0	0.004007	0	0
TMEM127	55654	broad.mit.edu	37	2	96919742	96919742	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:96919742G>A	uc002svq.3	-	3	797	c.521C>T	c.(520-522)gCc>gTc	p.A174V	TMEM127_uc002svr.3_Missense_Mutation_p.A174V	NM_017849	NP_060319	O75204	TM127_HUMAN	Homo sapiens transmembrane protein 127 (TMEM127), transcript variant 1, mRNA.	174					negative regulation of TOR signaling cascade|negative regulation of cell proliferation	cytoplasm|integral to membrane|plasma membrane				endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)	5						GAAGCTAACGGCGAAGGTGAC	0.577000														34			16		0	0	0.006122	0	0
SAMD9L	219285	broad.mit.edu	37	7	92762860	92762860	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:92762860C>T	uc003umh.1	-	4	3641	c.2425G>A	c.(2425-2427)Gaa>Aaa	p.E809K	SAMD9L_uc003umj.1_Missense_Mutation_p.E809K|SAMD9L_uc003umi.1_Missense_Mutation_p.E809K|SAMD9L_uc010lfb.1_Missense_Mutation_p.E809K|SAMD9L_uc003umk.1_Missense_Mutation_p.E809K|SAMD9L_uc010lfc.1_Missense_Mutation_p.E809K|SAMD9L_uc010lfd.1_Missense_Mutation_p.E809K|SAMD9L_uc022ahh.1_Missense_Mutation_p.E809K	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	Homo sapiens sterile alpha motif domain containing 9-like (SAMD9L), mRNA.	809										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			TAGACATTTTCTTGTTCTTCA	0.373000														59			18		0	0	0.004990	0	0
LARS	51520	broad.mit.edu	37	5	145493820	145493820	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:145493820C>T	uc003lnx.1	-	31	3618	c.3380G>A	c.(3379-3381)cGa>cAa	p.R1127Q	LARS_uc003lnw.1_Missense_Mutation_p.R285Q|LARS_uc011dbq.1_Missense_Mutation_p.R1081Q|LARS_uc011dbr.1_Missense_Mutation_p.R1073Q|LARS_uc011dbs.1_Missense_Mutation_p.R1100Q	NM_020117	NP_064502	Q9P2J5	SYLC_HUMAN	Homo sapiens leucyl-tRNA synthetase (LARS), mRNA.	1127					leucyl-tRNA aminoacylation	cytosol	ATP binding|leucine-tRNA ligase activity|protein binding			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Leucine(DB00149)	GACAGGAACTCGTCGAGGCCC	0.413000														37			19		0	0	0.008871	0	0
ZNF208	7757	broad.mit.edu	37	19	22156665	22156665	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:22156665G>A	uc021urr.1	-	3	1320	c.1171C>T	c.(1171-1173)Cat>Tat	p.H391Y	ZNF208_uc002nqo.1_Intron	NM_007153	NP_009084			Homo sapiens zinc finger protein 208 (ZNF208), mRNA.											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TCTCCAGTATGAATTTTCTTA	0.378000														20			5		0	0	0.001984	0	0
EPT1	85465	broad.mit.edu	37	2	26587215	26587215	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:26587215C>T	uc021veu.1	+	1	250	c.103C>T	c.(103-105)Cca>Tca	p.P35S	EPT1_uc010eyl.1_Non-coding_Transcript	NM_033505		Q9C0D9	EPT1_HUMAN	Homo sapiens ethanolaminephosphotransferase 1 (CDP-ethanolamine-specific) (EPT1), mRNA.	35					phospholipid biosynthetic process	integral to membrane	ethanolaminephosphotransferase activity|metal ion binding										TGTCATGCATCCATTCTGGAA	0.299000														5			3		0	0	0.004672	0	0
LRP2	4036	broad.mit.edu	37	2	170048483	170048483	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:170048483C>T	uc002ues.3	-	47	9104	c.8891G>A	c.(8890-8892)aGg>aAg	p.R2964K		NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	2964	LDL-receptor class A 22.				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)	GGGAATGCACCTCCTGTCCGG	0.473000														47			26		0	0	0.004656	0	0
PEX3	8504	broad.mit.edu	37	6	143806294	143806294	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:143806294C>T	uc003qjl.3	+	10	1209	c.947C>T	c.(946-948)tCc>tTc	p.S316F		NM_003630	NP_003621	P56589	PEX3_HUMAN	Homo sapiens peroxisomal biogenesis factor 3 (PEX3), mRNA.	316					protein import into peroxisome membrane|transmembrane transport	integral to peroxisomal membrane	protein binding			endometrium(1)|large_intestine(9)|lung(4)|ovary(2)|skin(2)	18				OV - Ovarian serous cystadenocarcinoma(155;5.73e-06)|GBM - Glioblastoma multiforme(68;0.0117)		TTCAGTCTTTCCAGTGTCAGC	0.338000														90			35		0	0	0.008740	0	0
ZNF607	84775	broad.mit.edu	37	19	38190444	38190444	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:38190444G>A	uc002ohc.2	-	4	1184	c.588C>T	c.(586-588)ccC>ccT	p.P196P	ZNF607_uc002ohb.2_Silent_p.P195P	NM_032689	NP_116078	Q96SK3	ZN607_HUMAN	Homo sapiens zinc finger protein 607 (ZNF607), transcript variant 1, mRNA.	196					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1)	27			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)			TACATTCATAGGGTTTCTCAA	0.398000														63			27		0	0	0.007291	0	0
ADH1B	125	broad.mit.edu	37	4	100229018	100229018	+	Silent	SNP	G	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:100229018G>T	uc003hus.4	-	8	1191	c.1107C>A	c.(1105-1107)atC>atA	p.I369I	ADH1B_uc003hut.4_Silent_p.I329I|ADH1B_uc011ceh.2_Silent_p.I214I	NM_000668	NP_000659	P00325	ADH1B_HUMAN	Homo sapiens alcohol dehydrogenase 1B (class I), beta polypeptide (ADH1B), mRNA.	369					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)	GGACGGTACGGATACTGCAAT	0.453000														35			10		6.40141e-05	7.69721e-05	0.000978	1	0
CSMD1	64478	broad.mit.edu	37	8	3889440	3889440	+	Silent	SNP	A	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:3889440A>T	uc022aqr.1	-	3	987	c.597T>A	c.(595-597)gcT>gcA	p.A199A		NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	199	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)		TGCAAAAGGGAGCTGGGAAGT	0.537000														23			7		0	0	0.001984	0	0
CDCP1	64866	broad.mit.edu	37	3	45152295	45152295	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:45152295A>G	uc003com.3	-	3	829	c.694T>C	c.(694-696)Tca>Cca	p.S232P	CDCP1_uc003con.3_Missense_Mutation_p.S232P	NM_022842	NP_073753	Q9H5V8	CDCP1_HUMAN	Homo sapiens CUB domain containing protein 1 (CDCP1), transcript variant 1, mRNA.	232						extracellular region|integral to membrane|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		AGGGTTGCTGAGCCTTCACCC	0.552000														61			104		0	0	0.003610	0	0
COL4A4	1286	broad.mit.edu	37	2	227968696	227968696	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:227968696C>T	uc021vxr.1	-	11	909	c.808G>A	c.(808-810)Gga>Aga	p.G270R	COL4A4_uc021vxs.1_Missense_Mutation_p.G270R	NM_000092	NP_000083	P53420	CO4A4_HUMAN	Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.	270	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)		ACCTTTTCTCCTTTATAGAGA	0.398000														25			12		0	0	0.000978	0	0
NLRP3	114548	broad.mit.edu	37	1	247586554	247586554	+	Silent	SNP	G	A	A	rs149161277		TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:247586554G>A	uc001icr.3	+	3	444	c.306G>A	c.(304-306)tcG>tcA	p.S102S	NLRP3_uc001ics.3_Silent_p.S102S|NLRP3_uc001icu.3_Silent_p.S102S|NLRP3_uc001icw.3_Silent_p.S102S|NLRP3_uc001icv.3_Silent_p.S102S|NLRP3_uc010pyw.2_Silent_p.S100S|NLRP3_uc001ict.1_Silent_p.S100S	NM_001079821	NP_001230062	Q96P20	NALP3_HUMAN	Homo sapiens NLR family, pyrin domain containing 3 (NLRP3), transcript variant 3, mRNA.	102					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.S102S(2)|p.S102L(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)			CACGTGTTTCGAATCCCACTG	0.398000														92			24		0	0	0.005443	0	0
OR5T1	390155	broad.mit.edu	37	11	56043277	56043277	+	Silent	SNP	T	C	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:56043277T>C	uc001nio.1	+	0	163	c.163T>C	c.(163-165)Tta>Cta	p.L55L		NM_001004745	NP_001004745	Q8NG75	OR5T1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily T, member 1 (OR5T1), mRNA.	55					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43	Esophageal squamous(21;0.00448)					AATAGGCAATTTAGGGCTGGT	0.348000														49			25		0	0	0.003954	0	0
MMP2	4313	broad.mit.edu	37	16	55522468	55522468	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:55522468G>A	uc002ehz.4	+	5	1157	c.846G>A	c.(844-846)atG>atA	p.M282I	MMP2_uc010vhd.2_Missense_Mutation_p.M206I|MMP2_uc010ccc.3_Missense_Mutation_p.M232I	NM_004530	NP_004521	P08253	MMP2_HUMAN	Homo sapiens matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase) (MMP2), transcript variant 1, mRNA.	282	Collagen-binding.				angiogenesis|collagen catabolic process|proteolysis	extracellular space|membrane|nucleus|proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Marimastat(DB00786)|Sulindac(DB00605)	TGTTCACCATGGGCGGCAACG	0.612000														8			5		0	0	0.000602	0	0
CYP2C19	1557	broad.mit.edu	37	10	96454696	96454696	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:96454696C>T	uc001kjv.4	+	3	830	c.504C>T	c.(502-504)ttC>ttT	p.F168F	CYP2C19_uc001kjw.4_Silent_p.F168F|CYP2C19_uc009xus.1_Intron|CYP2C19_uc010qny.2_5'UTR	NM_000772	NP_000763	P33261	CP2CJ_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 18 (CYP2C18), transcript variant 1, mRNA.	168			F -> L (in dbSNP:rs28399510).		exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	ATCCCACTTTCATCCTGGGCT	0.333000														92			25		0	0	0.002445	0	0
TSSK1B	83942	broad.mit.edu	37	5	112770152	112770152	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:112770152C>T	uc003kqm.2	-	0	577	c.385G>A	c.(385-387)Gac>Aac	p.D129N	MCC_uc003kql.4_Intron	NM_032028	NP_114417	Q9BXA7	TSSK1_HUMAN	Homo sapiens testis-specific serine kinase 1B (TSSK1B), mRNA.	129	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)		ACGTCCAGGTCGTGGCAGTAC	0.562000														35			8		0	0	0.003080	0	0
ZNF682	91120	broad.mit.edu	37	19	20117309	20117309	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:20117309G>A	uc002noq.3	-	3	1125	c.1002C>T	c.(1000-1002)acC>acT	p.T334T	ZNF682_uc002noo.3_Silent_p.T302T|ZNF682_uc002nop.3_Silent_p.T302T|ZNF682_uc010eck.3_Silent_p.T258T	NM_033196	NP_001070817	O95780	ZN682_HUMAN	Homo sapiens zinc finger protein 682 (ZNF682), transcript variant 1, mRNA.	334					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						CTCCCGTATGGGTTCTCTCAT	0.378000														45			12		0	0	0.002450	0	0
CDK14	5218	broad.mit.edu	37	7	90585031	90585031	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:90585031C>T	uc003uky.2	+	8	1068	c.846C>T	c.(844-846)tcC>tcT	p.S282S	CDK14_uc003ukz.1_Silent_p.S264S|CDK14_uc010les.1_Silent_p.S236S|CDK14_uc011khl.1_Silent_p.S153S	NM_012395	NP_036527	O94921	CDK14_HUMAN	Homo sapiens cyclin-dependent kinase 14 (CDK14), mRNA.	282	Protein kinase.				G2/M transition of mitotic cell cycle|Wnt receptor signaling pathway|cell division|regulation of canonical Wnt receptor signaling pathway	cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane	ATP binding|cyclin binding|cyclin-dependent protein kinase activity			breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(12)|ovary(1)|skin(4)	32						GAGCAAAATCCGTCCCTAGCC	0.413000														60			32		0	0	0.003271	0	0
NCAN	1463	broad.mit.edu	37	19	19339425	19339425	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:19339425C>T	uc002nlz.3	+	7	3095	c.2996C>T	c.(2995-2997)cCt>cTt	p.P999L	NCAN_uc010ecc.1_Missense_Mutation_p.P563L	NM_004386	NP_004377	O14594	NCAN_HUMAN	Homo sapiens neurocan (NCAN), mRNA.	999					axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			CCAGGGACCCCTATGAATGCA	0.637000														38			10		0	0	0.008291	0	0
SCUBE1	80274	broad.mit.edu	37	22	43735192	43735192	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr22:43735192G>A	uc003bdt.2	-	1	265	c.138C>T	c.(136-138)atC>atT	p.I46I	SCUBE1_uc003bdu.2_Silent_p.I46I	NM_173050	NP_766638	Q8IWY4	SCUB1_HUMAN	Homo sapiens signal peptide, CUB domain, EGF-like 1 (SCUBE1), mRNA.	46	EGF-like 1; calcium-binding (Potential).				adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				AGATGGCATCGATGTGGCAGT	0.597000														33			14		0	0	0.002450	0	0
BAI1	575	broad.mit.edu	37	8	143599524	143599524	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:143599524C>T	uc003ywm.3	+	17	3026	c.2843C>T	c.(2842-2844)tCg>tTg	p.S948L		NM_001702	NP_001693	O14514	BAI1_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 1 (BAI1), mRNA.	948					axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					ACTCTGCCGTCGGTGACGCTC	0.647000														51			16		0	0	0.008871	0	0
TTN	7273	broad.mit.edu	37	2	179579889	179579889	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:179579889G>A	uc021vsy.1	-	86	22517	c.22292C>T	c.(22291-22293)tCt>tTt	p.S7431F	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.S4092F	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	8358	Ig-like 56.						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)			TTTATACCAAGAAACGTGAAA	0.453000														149			41		0	0	0.003214	0	0
DYSF	8291	broad.mit.edu	37	2	71825746	71825746	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:71825746G>A	uc010fen.3	+	32	3768	c.3627G>A	c.(3625-3627)gtG>gtA	p.V1209V	DYSF_uc010fei.3_Silent_p.V1208V|DYSF_uc010feh.3_Silent_p.V1177V|DYSF_uc002sig.4_Silent_p.V1177V|DYSF_uc010yqx.2_Non-coding_Transcript|DYSF_uc010feg.3_Silent_p.V1222V|DYSF_uc010fee.3_Silent_p.V1191V|DYSF_uc010fef.3_Silent_p.V1208V|DYSF_uc002sie.3_Silent_p.V1191V|DYSF_uc010feo.3_Silent_p.V1223V|DYSF_uc010fej.3_Silent_p.V1178V|DYSF_uc010fel.3_Silent_p.V1178V|DYSF_uc010fem.3_Silent_p.V1192V|DYSF_uc002sif.3_Silent_p.V1192V|DYSF_uc010fek.3_Silent_p.V1209V|DYSF_uc010yqy.2_Silent_p.V72V	NM_001130987	NP_001124459	O75923	DYSF_HUMAN	Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA.	1191	C2 4.					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						CGGTGGTGGTGAAGAACACCC	0.607000														19			14		0	0	0.004990	0	0
WDR92	116143	broad.mit.edu	37	2	68368839	68368839	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:68368839C>T	uc002see.1	-	3	585	c.504G>A	c.(502-504)tgG>tgA	p.W168*	WDR92_uc002sed.1_Non-coding_Transcript|WDR92_uc002sef.1_Nonsense_Mutation_p.W168*|WDR92_uc002seg.1_Nonsense_Mutation_p.W67*	NM_138458	NP_612467	Q96MX6	WDR92_HUMAN	Homo sapiens WD repeat domain 92 (WDR92), mRNA.	168					apoptosis|histone lysine methylation		methylated histone residue binding			endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|stomach(1)	12						ATGCCACAGTCCAACAGTCTC	0.398000														106			29		0	0	0.008361	0	0
PDE11A	50940	broad.mit.edu	37	2	178769883	178769883	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:178769883A>G	uc002ulq.3	-	2	1421	c.1103T>C	c.(1102-1104)aTc>aCc	p.I368T	PDE11A_uc002ulr.3_Missense_Mutation_p.I118T|PDE11A_uc002uls.1_Missense_Mutation_p.I10T|PDE11A_uc002ult.1_Missense_Mutation_p.I118T|PDE11A_uc002ulu.1_Missense_Mutation_p.I10T	NM_016953	NP_001070664	Q9HCR9	PDE11_HUMAN	Homo sapiens phosphodiesterase 11A (PDE11A), transcript variant 4, mRNA.	368	GAF 1.				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)			AGATATGGCGATTCCACAAAA	0.368000									Primary Pigmented Nodular Adrenocortical Disease, Familial					44			18		0	0	0.006122	0	0
ANK3	288	broad.mit.edu	37	10	61823930	61823930	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:61823930C>T	uc001jky.3	-	38	12774	c.12436G>A	c.(12436-12438)Gga>Aga	p.G4146R	ANK3_uc001jkw.3_Missense_Mutation_p.G667R|ANK3_uc009xpa.3_Missense_Mutation_p.G667R|ANK3_uc001jkx.3_Missense_Mutation_p.G711R|ANK3_uc010qih.2_Missense_Mutation_p.G1534R|ANK3_uc001jkz.4_Missense_Mutation_p.G1527R|ANK3_uc001jkv.3_Missense_Mutation_p.G66R	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	4146	Death.				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	p.G4146R(2)|p.G667R(1)		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						GCATTTTTTCCGTCTCTGGTA	0.299000														57			26		0	0	0.007291	0	0
PELO	53918	broad.mit.edu	37	5	52096730	52096730	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:52096730C>T	uc003jos.3	+	1	1487	c.502C>T	c.(502-504)Cct>Tct	p.P168S	ITGA1_uc003jou.3_Intron|ITGA1_uc003jov.3_Intron	NM_015946	NP_057030	Q9BRX2	PELO_HUMAN	Homo sapiens pelota homolog (Drosophila) (PELO), mRNA.	168					cell cycle|cell division|translation	cytoplasm|nucleus	endonuclease activity|metal ion binding|protein binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	11		Lung NSC(810;4.94e-05)|Breast(144;0.0848)				GGTGAACATCCCTAGGAAAAG	0.562000														59			24		0	0	0.003954	0	0
CCDC105	126402	broad.mit.edu	37	19	15124523	15124523	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:15124523G>A	uc002nae.2	+	1	709	c.610G>A	c.(610-612)Gag>Aag	p.E204K		NM_173482	NP_775753	Q8IYK2	CC105_HUMAN	Homo sapiens coiled-coil domain containing 105 (CCDC105), mRNA.	204					microtubule cytoskeleton organization	microtubule				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2)	23						ATGGGAGAAAGAGGAGCTGAA	0.478000														9			5		0	0	0.001984	0	0
DIRAS3	9077	broad.mit.edu	37	1	68512384	68512384	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:68512384C>T	uc021ooq.1	-	0	597	c.597G>A	c.(595-597)aaG>aaA	p.K199K	GNG12-AS1_uc001deb.2_Intron|GNG12-AS1_uc001dec.2_Intron|DIRAS3_uc001ded.3_Silent_p.K199K	NM_004675	NP_004666	O95661	DIRA3_HUMAN	Homo sapiens DIRAS family, GTP-binding RAS-like 3 (DIRAS3), mRNA.	199					regulation of cyclin-dependent protein kinase activity|regulation of gene expression by genetic imprinting|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity			NS(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						TGGGCTTTTTCTTGTAATTCA	0.532000														82			29		0	0	0.006320	0	0
ADRA1A	148	broad.mit.edu	37	8	26722229	26722229	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:26722229G>A	uc003xfc.1	-	0	694	c.258C>T	c.(256-258)ttC>ttT	p.F86F	ADRA1A_uc010lul.1_Silent_p.F86F|ADRA1A_uc003xfd.1_Non-coding_Transcript|ADRA1A_uc003xfe.1_Silent_p.F86F|ADRA1A_uc010lum.1_Silent_p.F86F|ADRA1A_uc003xff.1_Non-coding_Transcript|ADRA1A_uc003xfg.1_Silent_p.F86F|ADRA1A_uc003xfh.1_Silent_p.F86F|ADRA1A_uc022atd.1_Silent_p.F86F	NM_033303	NP_150646	P35348	ADA1A_HUMAN	Homo sapiens adrenergic, alpha-1A-, receptor (ADRA1A), transcript variant 2, mRNA.	86					activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of Rho protein signal transduction|negative regulation of cell proliferation|negative regulation of synaptic transmission, GABAergic|positive regulation of ERK1 and ERK2 cascade|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction	integral to plasma membrane	alpha1-adrenergic receptor activity	p.F86F(6)		breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1)	36		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246)	CTAGGACCTCGAAGATGGCGG	0.622000														68			24		0	0	0.003954	0	0
PTPRT	11122	broad.mit.edu	37	20	41306746	41306746	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr20:41306746G>A	uc002xkg.3	-	6	1097	c.913C>T	c.(913-915)Ctg>Ttg	p.L305L	PTPRT_uc010ggj.3_Silent_p.L305L	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	305	Fibronectin type-III 1.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				TTGATCCACAGGTATGTGGCC	0.542000														30			36		0	0	0.005524	0	0
TMEM178	130733	broad.mit.edu	37	2	39931256	39931256	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:39931256T>A	uc002rrt.3	+	1	516	c.436T>A	c.(436-438)Ttt>Att	p.F146I	TMEM178_uc021vgg.1_5'UTR|TMEM178_uc010fam.2_Missense_Mutation_p.F146I	NM_152390	NP_689603	Q8NBL3	TM178_HUMAN	Homo sapiens transmembrane protein 178 (TMEM178), transcript variant 1, mRNA.	146						integral to membrane				endometrium(1)|large_intestine(5)|lung(5)	11		all_hematologic(82;0.248)				CAAGTACCACTTTTCTCAGCC	0.443000														39			12		0	0	0.003163	0	0
SEMA6A	57556	broad.mit.edu	37	5	115782965	115782965	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:115782965G>A	uc003krx.4	-	19	3197	c.2488C>T	c.(2488-2490)Ccc>Tcc	p.P830S	SEMA6A_uc010jck.3_Missense_Mutation_p.P813S|SEMA6A_uc011cwe.2_Missense_Mutation_p.P192S|SEMA6A_uc003krv.4_Missense_Mutation_p.P240S|SEMA6A_uc003krw.4_Missense_Mutation_p.P290S|SEMA6A_uc010jcj.3_Missense_Mutation_p.P357S	NM_020796	NP_065847	Q9H2E6	SEM6A_HUMAN	Homo sapiens sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A (SEMA6A), mRNA.	813					apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		ACCACGCTGGGGATGTGGCTG	0.642000														36			22		0	0	0.001882	0	0
C10orf128	170371	broad.mit.edu	37	10	50396379	50396379	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:50396379C>T	uc010qgo.2	-	0	29	c.3G>A	c.(1-3)atG>atA	p.M1I	C10orf128_uc001jhn.4_Missense_Mutation_p.M1I|C10orf128_uc001jho.4_Missense_Mutation_p.M1I			Q5T292	CJ128_HUMAN	Homo sapiens chromosome 10 open reading frame 128 (C10orf128), mRNA.	1						integral to membrane				breast(1)|large_intestine(1)|lung(1)	3						CCCCCAAGTTCATGCTGGCGC	0.647000														16			9		0	0	0.008291	0	0
C11orf54	28970	broad.mit.edu	37	11	93487129	93487129	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:93487129G>A	uc001peh.3	+	4	450	c.256G>A	c.(256-258)Gaa>Aaa	p.E86K	C11orf54_uc001pef.3_Missense_Mutation_p.E86K|C11orf54_uc009ywi.3_Missense_Mutation_p.E86K|C11orf54_uc001peg.3_Missense_Mutation_p.E86K|C11orf54_uc001pei.3_Missense_Mutation_p.E67K|C11orf54_uc001pej.3_Missense_Mutation_p.E67K|C11orf54_uc001pek.3_5'UTR	NM_014039	NP_054758	Q9H0W9	CK054_HUMAN	Homo sapiens chromosome 11 open reading frame 54 (C11orf54), mRNA.	86						nucleus	hydrolase activity, acting on ester bonds|protein binding|zinc ion binding			NS(1)|endometrium(1)|large_intestine(1)|lung(5)	8		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				AATTGCAAAAGAAATCAAGCT	0.348000														119			53		0	0	0.003610	0	0
RP1L1	94137	broad.mit.edu	37	8	10467248	10467248	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:10467248G>A	uc003wtc.3	-	3	4589	c.4360C>T	c.(4360-4362)Cct>Tct	p.P1454S		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA.	1454					intracellular signal transduction			p.P1454H(1)		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)		AGATGACTAGGGGGCTCTGTG	0.637000														58			28		0	0	0.005443	0	0
TMEM63C	57156	broad.mit.edu	37	14	77709291	77709291	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:77709291C>T	uc001xtf.2	+	14	1445	c.1233C>T	c.(1231-1233)atC>atT	p.I411I	TMEM63C_uc010asq.1_Silent_p.I411I	NM_020431	NP_065164	Q9P1W3	TM63C_HUMAN	Homo sapiens transmembrane protein 63C (TMEM63C), mRNA.	411						integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(1)	23			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0342)		CCCGCTTTATCGCAATCAACA	0.512000														46			18		0	0	0.008871	0	0
SPHKAP	80309	broad.mit.edu	37	2	228882856	228882856	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:228882856C>T	uc002vpq.2	-	6	2761	c.2714G>A	c.(2713-2715)gGg>gAg	p.G905E	SPHKAP_uc002vpp.2_Missense_Mutation_p.G905E|SPHKAP_uc010zlx.1_Missense_Mutation_p.G905E	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	905						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CAGGTCATCCCCTAACAAGGA	0.493000														81			59		0	0	0.003610	0	0
TET3	200424	broad.mit.edu	37	2	74274350	74274350	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:74274350G>A	uc002skb.4	+	0	901	c.901G>A	c.(901-903)Gcc>Acc	p.A301T	TET3_uc010fez.2_Missense_Mutation_p.A301T	NM_144993	NP_659430	O43151	TET3_HUMAN	Homo sapiens tet methylcytosine dioxygenase 3 (TET3), mRNA.	301							metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GTTCCCTGAAGCCTGGGGCAC	0.612000														31			18		0	0	0.006122	0	0
COL22A1	169044	broad.mit.edu	37	8	139661981	139661981	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:139661981G>A	uc003yvd.3	-	45	3821	c.3374C>T	c.(3373-3375)cCt>cTt	p.P1125L	COL22A1_uc011ljo.2_Missense_Mutation_p.P405L	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	Homo sapiens collagen, type XXII, alpha 1 (COL22A1), mRNA.	1125	Collagen-like 10.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			TGGTAGACCAGGGAGGCCTGG	0.512000										HNSCC(7;0.00092)				45			12		0	0	0.003163	0	0
ZGPAT	84619	broad.mit.edu	37	20	62339959	62339959	+	Silent	SNP	C	T	T	rs148155917		TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr20:62339959C>T	uc002ygk.3	+	1	216	c.27C>T	c.(25-27)gcC>gcT	p.A9A	ARFRP1_uc002yga.3_5'Flank|ARFRP1_uc002ygf.3_5'Flank|ARFRP1_uc011abf.2_5'Flank|ARFRP1_uc002ygh.4_5'Flank|ARFRP1_uc002ygc.3_5'Flank|ARFRP1_uc011abg.2_5'Flank|ARFRP1_uc011abh.2_5'Flank|ZGPAT_uc002ygi.2_Silent_p.A9A|ZGPAT_uc010gkk.2_Intron|ZGPAT_uc010gkl.2_Silent_p.A9A|ZGPAT_uc002ygm.3_Silent_p.A9A|ZGPAT_uc002ygj.2_Silent_p.A9A|ZGPAT_uc002ygn.4_Non-coding_Transcript	NM_032527	NP_115916	Q8N5A5	ZGPAT_HUMAN	Homo sapiens zinc finger, CCCH-type with G patch domain (ZGPAT), transcript variant 1, mRNA.	9					negative regulation of epidermal growth factor receptor activity|negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	14	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)					TGGAGTCGGCCTTGCAGACCT	0.687000														27			30		0	0	0.002445	0	0
TAS2R60	338398	broad.mit.edu	37	7	143141201	143141201	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:143141201C>A	uc011ktg.2	+	0	656	c.656C>A	c.(655-657)tCt>tAt	p.S219Y	LOC285965_uc003wda.3_Intron	NM_177437	NP_803186	P59551	T2R60_HUMAN	Homo sapiens taste receptor, type 2, member 60 (TAS2R60), mRNA.	219					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)					CTCATCACATCTCTGGGAAGA	0.463000														65			29		5.77227e-19	7.02068e-19	0.008361	1	0
AGPHD1	123688	broad.mit.edu	37	15	78807359	78807360	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:78807359_78807360CC>TT	uc010unc.2	+	2	500_501	c.387_388CC>TT	c.(385-390)ctccca>ctTTca	p.P130S	AGPHD1_uc002bdt.3_Missense_Mutation_p.P130S|AGPHD1_uc010ble.3_Missense_Mutation_p.P130S	NM_001013619	NP_001013641	A2RU49	AGPD1_HUMAN	Homo sapiens aminoglycoside phosphotransferase domain containing 1 (AGPHD1), transcript variant 1, mRNA.	130						cytoplasm	kinase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(2)	9						TGACTTACCTCCCAGGAAGACC	0.401000														28			13		0	0	0.004672	0	0
RBM45	129831	broad.mit.edu	37	2	178988285	178988285	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:178988285C>T	uc002ulv.3	+	5	982	c.890C>T	c.(889-891)gCt>gTt	p.A297V		NM_152945	NP_694453	Q8IUH3	RBM45_HUMAN	Homo sapiens RNA binding motif protein 45 (RBM45), mRNA.	299					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)			GTAGCATCAGCTATTTATGCA	0.373000														61			27		0	0	0.006320	0	0
SCML2	10389	broad.mit.edu	37	X	18283762	18283762	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chrX:18283762C>T	uc004cyl.2	-	7	1048	c.891G>A	c.(889-891)agG>agA	p.R297R	SCML2_uc004cyk.3_Non-coding_Transcript|SCML2_uc010nfd.1_Silent_p.R297R|SCML2_uc011miz.1_Silent_p.R231R|SCML2_uc010nfc.2_Silent_p.R33R	NM_006089	NP_006080	Q9UQR0	SCML2_HUMAN	Homo sapiens sex comb on midleg-like 2 (Drosophila) (SCML2), transcript variant 1, mRNA.	297					anatomical structure morphogenesis	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	36	Hepatocellular(33;0.183)					CAGAACTGCTCCTTTTGGGGA	0.388000														35			49		0	0	0.003610	0	0
CYP2F1	1572	broad.mit.edu	37	19	41626322	41626322	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:41626322C>T	uc002opu.1	+	3	461	c.405C>T	c.(403-405)ttC>ttT	p.F135F	CYP2F1_uc021uuv.1_Intron|CYP2F1_uc010xvv.1_Silent_p.F135F|CYP2F1_uc002opv.1_Non-coding_Transcript	NM_000774	NP_000765	P24903	CP2F1_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily F, polypeptide 1 (CYP2F1), mRNA.	135					naphthalene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|skin(2)	29						TACGGAATTTCGGGATGGGGA	0.527000														84			47		0	0	0.003610	0	0
FAM47A	158724	broad.mit.edu	37	X	34149328	34149328	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chrX:34149328C>T	uc004ddg.3	-	0	1120	c.1068G>A	c.(1066-1068)gaG>gaA	p.E356E		NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN	Homo sapiens family with sequence similarity 47, member A (FAM47A), mRNA.	356								p.E356K(1)		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						ACACTCCAGTCTCGGAAGGCT	0.662000														3			13		0	0	0.001855	0	0
CLDN8	9073	broad.mit.edu	37	21	31588124	31588124	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr21:31588124G>A	uc002ynu.2	-	0	346	c.120C>T	c.(118-120)atC>atT	p.I40I		NM_199328	NP_955360	P56748	CLD8_HUMAN	Homo sapiens claudin 8 (CLDN8), mRNA.	40					calcium-independent cell-cell adhesion	endoplasmic reticulum|integral to membrane|tight junction	identical protein binding|structural molecule activity			NS(1)|endometrium(2)|large_intestine(6)|lung(6)	15						CAAAAACCACGATGTTGTTTT	0.488000														76			12		0	0	0.002450	0	0
CADM3	57863	broad.mit.edu	37	1	159166791	159166791	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:159166791G>A	uc001ftl.2	+	6	1072	c.893G>A	c.(892-894)gGc>gAc	p.G298D	CADM3_uc009wsy.1_Missense_Mutation_p.G252D|CADM3_uc001ftk.2_Missense_Mutation_p.G332D|LOC100131825_uc001ftm.2_Non-coding_Transcript	NM_001127173	NP_001120645	Q8N126	CADM3_HUMAN	Homo sapiens cell adhesion molecule 3 (CADM3), transcript variant 2, mRNA.	298	Ig-like C2-type 2.				adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	protein homodimerization activity	p.Q298H(1)		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)					GGCACCTACGGCTGCACAGCC	0.537000														36			17		0	0	0.007413	0	0
CUZD1	50624	broad.mit.edu	37	10	124594230	124594230	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:124594230G>A	uc001lgs.3	-	8	2325	c.1374C>T	c.(1372-1374)atC>atT	p.I458I	CUZD1_uc001lgp.3_Silent_p.I177I|CUZD1_uc009yad.3_Silent_p.I177I|CUZD1_uc009yaf.3_Silent_p.I92I|CUZD1_uc001lgr.3_Silent_p.I177I|CUZD1_uc010qty.2_Silent_p.I177I|CUZD1_uc009yae.3_Silent_p.I177I|CUZD1_uc010qtz.2_Silent_p.I458I	NM_022034	NP_071317	Q86UP6	CUZD1_HUMAN	Homo sapiens CUB and zona pellucida-like domains 1 (CUZD1), transcript variant 1, mRNA.	458	ZP.				cell cycle|cell division|cell proliferation|substrate-dependent cell migration, cell attachment to substrate|trypsinogen activation	integral to membrane|transport vesicle membrane|zymogen granule membrane				NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|stomach(1)	39		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.126)|COAD - Colon adenocarcinoma(40;0.141)		ACCCACTCTTGATTAGGTCGT	0.363000														31			14		0	0	0.004007	0	0
KLK1	3816	broad.mit.edu	37	19	51323580	51323580	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:51323580T>G	uc002ptk.1	-	2	365	c.326A>C	c.(325-327)cAc>cCc	p.H109P	KLK1_uc010ycg.1_Non-coding_Transcript	NM_002257	NP_002248	P06870	KLK1_HUMAN	Homo sapiens kallikrein 1 (KLK1), mRNA.	109	Peptidase S1.				proteolysis	nucleus	serine-type endopeptidase activity			breast(1)|large_intestine(4)|lung(7)|urinary_tract(1)	13		all_neural(266;0.0199)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00399)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TTGGCGGGTGTGGTTCTCCAG	0.557000														88			43		0	0	0.002852	0	0
MSR1	4481	broad.mit.edu	37	8	16026226	16026226	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:16026226C>T	uc010lsu.3	-	3	489	c.425G>A	c.(424-426)aGa>aAa	p.R142K	MSR1_uc003wwz.3_Missense_Mutation_p.R124K|MSR1_uc003wxa.3_Missense_Mutation_p.R124K|MSR1_uc003wxb.3_Missense_Mutation_p.R124K|MSR1_uc011kxz.2_Intron	NM_138715	NP_619729	P21757	MSRE_HUMAN	Homo sapiens macrophage scavenger receptor 1 (MSR1), transcript variant SR-AI, mRNA.	124					cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity			haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		ATGCTGGATTCTCTTCTCCAT	0.378000														116			46		0	0	0.003610	0	0
LOXL4	84171	broad.mit.edu	37	10	100012154	100012155	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:100012154_100012155CC>TT	uc001kpa.1	-	11	2057_2058	c.1906_1907GG>AA	c.(1906-1908)ggg>AAg	p.G636K		NM_032211	NP_115587	Q96JB6	LOXL4_HUMAN	Homo sapiens lysyl oxidase-like 4 (LOXL4), mRNA.	636	Lysyl-oxidase like.					extracellular space|membrane	copper ion binding|protein binding|scavenger receptor activity			breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(8)|ovary(4)|prostate(1)|skin(2)	26		Colorectal(252;0.234)		Epithelial(162;2.14e-11)|all cancers(201;2.49e-09)		GGCCTTGTGCCCCTCAGCCACC	0.545000														94			39		0	0	0.004672	0	0
OR6F1	343169	broad.mit.edu	37	1	247875554	247875554	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:247875554G>A	uc001idj.1	-	0	504	c.504C>T	c.(502-504)ttC>ttT	p.F168F		NM_001005286	NP_001005286	Q8NGZ6	OR6F1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily F, member 1 (OR6F1), mRNA.	168					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F168F(2)|p.S167S(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)			GGGGGCCACAGAAGGACAGGC	0.597000														45			30		0	0	0.001786	0	0
ATP8A2	51761	broad.mit.edu	37	13	26138107	26138107	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr13:26138107C>T	uc001uqk.3	+	15	1553	c.1411C>T	c.(1411-1413)Ccc>Tcc	p.P471S	ATP8A2_uc010tdi.2_Missense_Mutation_p.P431S|ATP8A2_uc010tdj.2_Non-coding_Transcript|ATP8A2_uc001uql.1_Missense_Mutation_p.P431S	NM_016529	NP_057613	Q9NTI2	AT8A2_HUMAN	Homo sapiens ATPase, aminophospholipid transporter, class I, type 8A, member 2 (ATP8A2), mRNA.	431					ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		GATGCCTCCTCCCTGTAGTGA	0.418000														62			15		0	0	0.003163	0	0
ZNF831	128611	broad.mit.edu	37	20	57829592	57829592	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr20:57829592A>G	uc002yan.3	+	4	4828	c.4828A>G	c.(4828-4830)Agt>Ggt	p.S1610G		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	Homo sapiens zinc finger protein 831 (ZNF831), mRNA.	1610						intracellular	nucleic acid binding|zinc ion binding	p.S1610C(2)		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)					CTCTTTAGGAAGTGACGGTAG	0.498000														55			43		0	0	0.003610	0	0
ATXN1	6310	broad.mit.edu	37	6	16328446	16328446	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:16328446G>A	uc003nbt.3	-	7	1067	c.96C>T	c.(94-96)acC>acT	p.T32T	ATXN1_uc010jpi.3_Silent_p.T32T|ATXN1_uc010jpj.1_Intron	NM_000332	NP_001121636	P54253	ATX1_HUMAN	Homo sapiens ataxin 1 (ATXN1), transcript variant 1, mRNA.	32					RNA processing|cell death|negative regulation of transcription, DNA-dependent|nuclear export	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein C-terminus binding|protein binding|protein self-association			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				CGCTGGGCAGGGTAGGGGCCT	0.682000														44			27		0	0	0.007291	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140772877	140772877	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:140772877C>T	uc003lkd.2	+	0	1395	c.497C>T	c.(496-498)tCc>tTc	p.S166F	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_uc003lkb.4_Missense_Mutation_p.S166F|PCDHGC5_uc003lkc.2_Intron	NM_032088	NP_114477	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 8 (PCDHGA8), transcript variant 1, mRNA.	166	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCGTGAACTCCCTCCAGAGC	0.552000														35			19		0	0	0.001882	0	0
ARHGEF2	9181	broad.mit.edu	37	1	155935494	155935494	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:155935494G>A	uc001fmu.2	-	8	788	c.533C>T	c.(532-534)tCc>tTc	p.S178F	ARHGEF2_uc001fmr.2_Missense_Mutation_p.S106F|ARHGEF2_uc001fms.2_Missense_Mutation_p.S133F|ARHGEF2_uc001fmt.2_Missense_Mutation_p.S133F|ARHGEF2_uc010pgt.1_Missense_Mutation_p.S106F|ARHGEF2_uc010pgu.1_Missense_Mutation_p.S178F	NM_004723	NP_004714	Q92974	ARHG2_HUMAN	Homo sapiens Rho/Rac guanine nucleotide exchange factor (GEF) 2 (ARHGEF2), transcript variant 3, mRNA.	133					actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of Rho protein signal transduction|regulation of cell proliferation|small GTPase mediated signal transduction	Golgi apparatus|cytosol|microtubule|ruffle membrane|spindle|tight junction	Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|microtubule binding|zinc ion binding			breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					GCCCAGGAGGGACTGCCGGAA	0.617000														22			9		0	0	0.004482	0	0
CYP1A2	1544	broad.mit.edu	37	15	75045535	75045535	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:75045535G>A	uc002ayr.1	+	5	1241	c.1177G>A	c.(1177-1179)Gac>Aac	p.D393N		NM_000761	NP_000752	P05177	CP1A2_HUMAN	Homo sapiens cytochrome P450, family 1, subfamily A, polypeptide 2 (CYP1A2), mRNA.	393					alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33					Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315)	CACAACAAGGGACACAACGCT	0.557000														13			8		0	0	0.004482	0	0
RP1	6101	broad.mit.edu	37	8	55540040	55540040	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:55540040G>A	uc003xsd.1	+	3	3746	c.3598G>A	c.(3598-3600)Gaa>Aaa	p.E1200K	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	1200					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)			CAGTGAGAAAGAACAAGACAT	0.413000														55			28		0	0	0.002445	0	0
VRTN	55237	broad.mit.edu	37	14	74825492	74825492	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:74825492C>T	uc021rwl.1	+	0	2006	c.2006C>T	c.(2005-2007)cCc>cTc	p.P669L	VRTN_uc001xpw.4_Missense_Mutation_p.P669L	NM_018228	NP_060698	Q9H8Y1	VRTN_HUMAN	Homo sapiens vertebrae development homolog (pig) (VRTN), mRNA.	669					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						AAGAGCTTTCCCTCCTACAAG	0.572000														55			15		0	0	0.007413	0	0
IQCD	115811	broad.mit.edu	37	12	113645520	113645520	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:113645520G>A	uc001tuu.3	-	1	624	c.452C>T	c.(451-453)tCc>tTc	p.S151F		NM_138451	NP_612460	Q96DY2	IQCD_HUMAN	Homo sapiens IQ motif containing D (IQCD), mRNA.	151										endometrium(2)|large_intestine(4)|lung(1)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						GTTCTTGGTGGAGTCTTTGAT	0.527000														91			42		0	0	0.003214	0	0
PCDHB16	57717	broad.mit.edu	37	5	140562936	140562936	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:140562936G>A	uc003liv.3	+	0	1957	c.802G>A	c.(802-804)Gat>Aat	p.D268N		NM_020957	NP_066008	Q9NRJ7	PCDBG_HUMAN	Homo sapiens protocadherin beta 16 (PCDHB16), mRNA.	268	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTCCGCCAGGGATTTAGACGG	0.478000														37			18		0	0	0.006122	0	0
MUC5B	727897	broad.mit.edu	37	11	1258301	1258301	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:1258301G>A	uc001lta.3	+	24	3263	c.3204G>A	c.(3202-3204)aaG>aaA	p.K1068K	MUC5B_uc009yct.2_Silent_p.K1068K	NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	1068	VWFD 3.				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)		TGGCACCCAAGGACCCCTGCA	0.692000														29			9		0	0	0.008291	0	0
MYH7B	57644	broad.mit.edu	37	20	33575683	33575683	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr20:33575683G>A	uc002xbi.2	+	17	1825	c.1508G>A	c.(1507-1509)gGg>gAg	p.G503E	MIR499A_uc021wcg.1_5'Flank	NM_020884	NP_065935	A7E2Y1	MYH7B_HUMAN	Homo sapiens myosin, heavy chain 7B, cardiac muscle, beta (MYH7B), mRNA.	461	Myosin head-like.					membrane|myosin filament	ATP binding|actin binding|motor activity	p.I502I(1)		NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			TTCTTCATCGGGGTTCTGGAC	0.607000														47			45		0	0	0.003610	0	0
VPS13D	55187	broad.mit.edu	37	1	12331142	12331142	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:12331142C>T	uc001atv.3	+	16	2205	c.2064C>T	c.(2062-2064)atC>atT	p.I688I	VPS13D_uc001atw.3_Silent_p.I688I	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog D (S. cerevisiae) (VPS13D), transcript variant 1, mRNA.	688					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)		AGGCAGAAATCCGGCAAACTC	0.473000														22			25		0	0	0.003954	0	0
RALB	5899	broad.mit.edu	37	2	121047196	121047197	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:121047196_121047197CC>TT	uc002tmk.3	+	3	554_555	c.364_365CC>TT	c.(364-366)cca>TTa	p.P122L	RALB_uc010yys.2_Missense_Mutation_p.P144L|RALB_uc002tml.3_Missense_Mutation_p.P143L|RALB_uc010yyt.2_Non-coding_Transcript	NM_002881	NP_002872	P11234	RALB_HUMAN	Homo sapiens v-ral simian leukemia viral oncogene homolog B (ras related; GTP binding protein) (RALB), mRNA.	122					Ras protein signal transduction|apoptosis|cell cycle|cytokinesis|nerve growth factor receptor signaling pathway|regulation of exocyst assembly|regulation of exocyst localization	cytosol|midbody|plasma membrane	GTP binding|GTPase activity|protein binding			endometrium(3)|large_intestine(3)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	15		Prostate(154;0.122)				AGATAAAATTCCACTGCTCGTC	0.500000														91			38		0	0	0.004672	0	0
SLTM	79811	broad.mit.edu	37	15	59180636	59180636	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:59180636C>T	uc002afp.3	-	16	2411	c.2323G>A	c.(2323-2325)Gag>Aag	p.E775K	SLTM_uc002afn.3_Missense_Mutation_p.E317K|SLTM_uc002afo.3_Missense_Mutation_p.E757K|SLTM_uc002afq.3_Missense_Mutation_p.E344K|SLTM_uc010bgd.3_Missense_Mutation_p.E344K	NM_024755	NP_079031	Q9NWH9	SLTM_HUMAN	Homo sapiens SAFB-like, transcription modulator (SLTM), transcript variant 1, mRNA.	775	Arg/Glu-rich.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	RNA binding|nucleotide binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CTGCCCCTCTCTCGGTGATCA	0.403000														39			41		0	0	0.003610	0	0
NUP210L	91181	broad.mit.edu	37	1	154042812	154042812	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:154042812C>T	uc001fdw.3	-	16	2563	c.2491G>A	c.(2491-2493)Gaa>Aaa	p.E831K	NUP210L_uc009woq.3_Intron|NUP210L_uc010peh.2_Missense_Mutation_p.E831K	NM_207308	NP_997191	Q5VU65	P210L_HUMAN	Homo sapiens nucleoporin 210kDa-like (NUP210L), transcript variant 1, mRNA.	831						integral to membrane		p.F830F(1)		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)			TTATAATCTTCGAAATGGGCT	0.378000														113			34		0	0	0.005524	0	0
PDE3B	5140	broad.mit.edu	37	11	14853268	14853268	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:14853268C>T	uc001mln.3	+	8	2392	c.2039C>T	c.(2038-2040)cCa>cTa	p.P680L	PDE3B_uc010rcr.2_Missense_Mutation_p.P629L	NM_000922	NP_000913	Q13370	PDE3B_HUMAN	Homo sapiens phosphodiesterase 3B, cGMP-inhibited (PDE3B), mRNA.	680					cAMP catabolic process|insulin receptor signaling pathway|negative regulation of lipid catabolic process|platelet activation	Golgi apparatus|cytosol|endoplasmic reticulum|guanyl-nucleotide exchange factor complex|integral to membrane|microsome	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding|protein kinase B binding			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TGGAATTTTCCAATTTTTGAA	0.328000														69			25		0	0	0.006320	0	0
DYSF	8291	broad.mit.edu	37	2	71791313	71791313	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:71791313T>A	uc010fen.3	+	23	2676	c.2535T>A	c.(2533-2535)aaT>aaA	p.N845K	DYSF_uc010fei.3_Missense_Mutation_p.N844K|DYSF_uc010feh.3_Missense_Mutation_p.N813K|DYSF_uc002sig.4_Missense_Mutation_p.N813K|DYSF_uc010yqx.2_Non-coding_Transcript|DYSF_uc010feg.3_Missense_Mutation_p.N858K|DYSF_uc010fee.3_Missense_Mutation_p.N827K|DYSF_uc010fef.3_Missense_Mutation_p.N844K|DYSF_uc002sie.3_Missense_Mutation_p.N827K|DYSF_uc010feo.3_Missense_Mutation_p.N859K|DYSF_uc010fej.3_Missense_Mutation_p.N814K|DYSF_uc010fel.3_Missense_Mutation_p.N814K|DYSF_uc010fem.3_Missense_Mutation_p.N828K|DYSF_uc002sif.3_Missense_Mutation_p.N828K|DYSF_uc010fek.3_Missense_Mutation_p.N845K	NM_001130987	NP_001124459	O75923	DYSF_HUMAN	Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA.	827						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						GTGGCAAGAATTGTGGGAAGC	0.507000														71			24		0	0	0.004656	0	0
AWAT1	158833	broad.mit.edu	37	X	69459607	69459607	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chrX:69459607A>C	uc004dxy.3	+	5	696	c.655A>C	c.(655-657)Act>Cct	p.T219P		NM_001013579	NP_001013597	Q58HT5	AWAT1_HUMAN	Homo sapiens acyl-CoA wax alcohol acyltransferase 1 (AWAT1), mRNA.	219					lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	long-chain-alcohol O-fatty-acyltransferase activity			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(3)|ovary(4)|skin(1)	15						CCCCACCTTCACTTTTGGGGA	0.463000														15			32		0	0	0.004289	0	0
SP7	121340	broad.mit.edu	37	12	53722077	53722077	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:53722077G>A	uc001sct.3	-	1	1256	c.1149C>T	c.(1147-1149)ccC>ccT	p.P383P	SP7_uc001scv.3_Silent_p.P383P|SP7_uc001scu.3_Silent_p.P365P	NM_152860	NP_690599	Q8TDD2	SP7_HUMAN	Homo sapiens Sp7 transcription factor (SP7), transcript variant 2, mRNA.	383					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(2)|large_intestine(3)|lung(7)|skin(1)|urinary_tract(1)	14						CACTGGGAGGGGGACCCGGGC	0.667000											OREG0021867	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		15			6		0	0	0.004482	0	0
DTX1	1840	broad.mit.edu	37	12	113496250	113496250	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:113496250G>A	uc001tuk.1	+	0	589	c.253G>A	c.(253-255)Gac>Aac	p.D85N		NM_004416	NP_004407	Q86Y01	DTX1_HUMAN	Homo sapiens deltex homolog 1 (Drosophila) (DTX1), mRNA.	85	WWE 1.				Notch signaling pathway|negative regulation of neuron differentiation|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						GTTTCGCCAGGACACAGGTGA	0.617000														53			32		0	0	0.003271	0	0
TEX19	400629	broad.mit.edu	37	17	80320388	80320388	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:80320388C>T	uc002keq.3	+	1	672	c.362C>T	c.(361-363)cCc>cTc	p.P121L	TEX19_uc021ufp.1_Missense_Mutation_p.P121L	NM_207459	NP_997342	Q8NA77	TEX19_HUMAN	Homo sapiens testis expressed 19 (TEX19), mRNA.	121						nucleus				breast(1)|endometrium(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1)	6						CACTTTGTCCCCACTGAACTA	0.637000														50			25		0	0	0.007291	0	0
PYDC2	152138	broad.mit.edu	37	3	191178966	191178966	+	Silent	SNP	A	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:191178966A>T	uc011bso.2	+	0	15	c.15A>T	c.(13-15)gcA>gcT	p.A5A		NM_001083308	NP_001076777	Q56P42	PYDC2_HUMAN	Homo sapiens pyrin domain containing 2 (PYDC2), mRNA.	5	DAPIN.					cytoplasm|nucleus				breast(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	10						CATCTTCTGCAGAGCTGGACT	0.468000														62			15		0	0	0.007413	0	0
ACSM1	116285	broad.mit.edu	37	16	20636825	20636825	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:20636825C>T	uc002dhm.1	-	10	1515	c.1447G>A	c.(1447-1449)Gag>Aag	p.E483K	ACSM1_uc002dhn.1_Intron|ACSM1_uc010bwg.1_Missense_Mutation_p.E483K	NM_052956	NP_443188	Q08AH1	ACSM1_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 1 (ACSM1), mRNA.	483					benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	ATP binding|GTP binding|acyl-CoA ligase activity|butyrate-CoA ligase activity|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						CTTTCAACCTCTGCAGGCCCG	0.612000														13			3		0	0	0.004672	0	0
DNAH9	1770	broad.mit.edu	37	17	11738140	11738140	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:11738140G>A	uc002gne.3	+	48	9500	c.9432G>A	c.(9430-9432)aaG>aaA	p.K3144K	DNAH9_uc010coo.3_Silent_p.K2438K	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	3144	Stalk (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)		AGAAGCAGAAGGACTGTGAGG	0.552000														19			10		0	0	0.006214	0	0
PCGF1	84759	broad.mit.edu	37	2	74733311	74733312	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:74733311_74733312CC>TT	uc002slz.3	-	3	446_447	c.420_421GG>AA	c.(418-423)ggggaa>ggAAaa	p.E141K	LBX2_uc002slw.3_5'Flank|PCGF1_uc002sly.3_Missense_Mutation_p.E58K	NM_032673	NP_116062	Q9BSM1	PCGF1_HUMAN	Homo sapiens polycomb group ring finger 1 (PCGF1), mRNA.	141					histone H2A monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PcG protein complex	protein C-terminus binding|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(2)	12						GACATACCTTCCCCAGTGGGCT	0.515000														76			23		0	0	0.004672	0	0
FAM71D	161142	broad.mit.edu	37	14	67664924	67664924	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:67664924G>A	uc001xja.2	+	2	336	c.46G>A	c.(46-48)Gat>Aat	p.D16N	FAM71D_uc010tsv.2_Non-coding_Transcript|FAM71D_uc001xiz.3_Non-coding_Transcript|FAM71D_uc010aqn.2_Non-coding_Transcript	NM_173526	NP_775797	Q8N9W8	FA71D_HUMAN	Homo sapiens family with sequence similarity 71, member D (FAM71D), mRNA.	16										breast(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(1)	13		all_hematologic(31;0.0116)		all cancers(60;0.00107)|BRCA - Breast invasive adenocarcinoma(234;0.00993)|OV - Ovarian serous cystadenocarcinoma(108;0.012)		CAATAAGCAAGATGCTCTCTG	0.433000														89			41		0	0	0.002522	0	0
LOC646214	646214	broad.mit.edu	37	15	21936793	21936793	+	RNA	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:21936793G>A	uc010tzj.1	-	0		c.3947C>T								Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 2 pseudogene (LOC646214), non-coding RNA.																		GCCCTCAAGGGATTTTCATTG	0.443000														146			7		0	0	0.001984	0	0
EGF	1950	broad.mit.edu	37	4	110932359	110932359	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:110932359G>A	uc003hzy.4	+	24	3823	c.3371_splice	c.e24-1	p.G1124_splice	EGF_uc011cfu.2_Splice_Site_p.G1082_splice|EGF_uc011cfv.2_Splice_Site_p.G1083_splice|EGF_uc010imk.3_Splice_Site_p.G246_splice	NM_001963	NP_001954	P01133	EGF_HUMAN	Homo sapiens epidermal growth factor (EGF), transcript variant 1, mRNA.	1124					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)	TTCATATAGGGTCAATGCAAC	0.438000														26			13		0	0	0.001855	0	0
FHL5	9457	broad.mit.edu	37	6	97052698	97052698	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:97052698G>A	uc003pos.2	+	3	648	c.232G>A	c.(232-234)Gaa>Aaa	p.E78K	FHL5_uc003pot.2_Missense_Mutation_p.E78K	NM_020482	NP_065228	Q5TD97	FHL5_HUMAN	Homo sapiens four and a half LIM domains 5 (FHL5), transcript variant 1, mRNA.	78	LIM zinc-binding 1.					nucleus	zinc ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|urinary_tract(1)	27		all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204)		BRCA - Breast invasive adenocarcinoma(108;0.0948)		CTCTTTGGTGGAAAAGCCTTT	0.468000														62			19		0	0	0.001882	0	0
OPRL1	4987	broad.mit.edu	37	20	62729718	62729718	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr20:62729718C>T	uc002yic.3	+	4	1098	c.679C>T	c.(679-681)Ccc>Tcc	p.P227S	OPRL1_uc002yid.3_Missense_Mutation_p.P227S|OPRL1_uc021wgs.1_Missense_Mutation_p.P227S|OPRL1_uc002yif.4_Missense_Mutation_p.P222S	NM_182647	NP_872588	P41146	OPRX_HUMAN	Homo sapiens opiate receptor-like 1 (OPRL1), transcript variant 1, mRNA.	227					elevation of cytosolic calcium ion concentration|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception	integral to plasma membrane	X-opioid receptor activity|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08)					CTTCATCGTCCCCGTGCTCGT	0.622000														55			38		0	0	0.008740	0	0
PCDH18	54510	broad.mit.edu	37	4	138453173	138453173	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:138453173C>T	uc003ihe.4	-	0	457	c.70G>A	c.(70-72)Gat>Aat	p.D24N	PCDH18_uc003ihf.4_Missense_Mutation_p.D17N|PCDH18_uc011cgz.2_Intron|PCDH18_uc003ihg.4_Intron|PCDH18_uc011cha.2_Intron	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	Homo sapiens protocadherin 18 (PCDH18), mRNA.	24					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)					CCCAGTACATCGTGGTTGAAA	0.383000														55			39		0	0	0.008740	0	0
NPIPL1	440350	broad.mit.edu	37	16	28468171	28468171	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:28468171G>A	uc010vct.2	-	7	1645	c.864C>T	c.(862-864)ccC>ccT	p.P288P						SubName: Full=Uncharacterized protein;											lung(1)	1						AGGGTGGAAGGGGAGTGAGCA	0.512000														7			15		0	0	0.007413	0	0
SLC4A2	6522	broad.mit.edu	37	7	150761667	150761667	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:150761667C>T	uc022apz.1	+	3	1312	c.272C>T	c.(271-273)cCg>cTg	p.P91L	SLC4A2_uc003wit.4_Missense_Mutation_p.P91L|SLC4A2_uc011kve.2_Missense_Mutation_p.P82L|SLC4A2_uc003wiu.4_Missense_Mutation_p.P77L	NM_001199692	NP_001186621	P04920	B3A2_HUMAN	Homo sapiens solute carrier family 4, anion exchanger, member 2 (erythrocyte membrane protein band 3-like 1) (SLC4A2), transcript variant 2, mRNA.	91	Pro-rich.				bicarbonate transport	integral to membrane|membrane fraction	inorganic anion exchanger activity			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CACCTGCCTCCGGATGCACGC	0.687000														24			15		0	0	0.004990	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144859817	144859817	+	Silent	SNP	G	A	A	rs72063878		TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:144859817G>A	uc021ouh.1	-	37	6569	c.6267C>T	c.(6265-6267)tcC>tcT	p.S2089S	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron|PDE4DIP_uc001elw.4_Silent_p.S2089S|PDE4DIP_uc001elx.4_Silent_p.S1983S|PDE4DIP_uc001elv.4_Silent_p.S1096S	NM_001198834	NP_001185763	Q5VU43	MYOME_HUMAN	Homo sapiens phosphodiesterase 4D interacting protein (PDE4DIP), transcript variant 9, mRNA.	2089					cellular protein complex assembly	Golgi apparatus|centrosome|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TCTGGTTAATGGAGGAGGGGC	0.582000			T	PDGFRB	MPD									73			9		0	0	0.008291	0	0
ZNF205	7755	broad.mit.edu	37	16	3170014	3170014	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:3170014C>T	uc002cub.3	+	6	1488	c.1353C>T	c.(1351-1353)ccC>ccT	p.P451P	ZNF205_uc002cua.3_Silent_p.P451P	NM_001042428	NP_003447	O95201	ZN205_HUMAN	Homo sapiens zinc finger protein 205 (ZNF205), transcript variant 2, mRNA.	451					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	20						ATCCGTGCCCCGAGTGCGGCA	0.642000														28			14		0	0	0.001855	0	0
PRKRIR	5612	broad.mit.edu	37	11	76062874	76062874	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:76062874G>A	uc001oxh.1	-	4	1320	c.1320C>T	c.(1318-1320)ctC>ctT	p.L440L	PRKRIR_uc021qnn.1_Silent_p.L265L|PRKRIR_uc010rrz.1_Silent_p.L265L	NM_004705	NP_004696	O43422	P52K_HUMAN	Homo sapiens protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor) (PRKRIR), mRNA.	440					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						GTGCTTGCAGGAGTTCCACTA	0.383000														46			19		0	0	0.004656	0	0
FHIT	2272	broad.mit.edu	37	3	59738022	59738022	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:59738022A>T	uc003dkx.4	-	8	745	c.374T>A	c.(373-375)tTt>tAt	p.F125Y	FHIT_uc003dky.3_Missense_Mutation_p.F125Y|FHIT_uc010hnn.1_Missense_Mutation_p.F125Y	NM_002012	NP_002003	P49789	FHIT_HUMAN	Homo sapiens fragile histidine triad gene (FHIT), transcript variant 1, mRNA.	125					nucleotide metabolic process		bis(5'-adenosyl)-triphosphatase activity|protein binding			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)	12		all_cancers(2;2.37e-314)|all_epithelial(2;5.17e-286)|Colorectal(2;1.24e-68)|all_lung(2;1.31e-45)|Lung NSC(2;1.79e-44)|all_hematologic(2;1.59e-23)|Renal(2;1.03e-13)|Breast(2;1.06e-10)|Esophageal squamous(2;6.31e-09)|Melanoma(2;1.83e-07)|Acute lymphoblastic leukemia(2;5.46e-05)|all_neural(2;0.00118)|Medulloblastoma(2;0.00263)|Hepatocellular(2;0.0245)|Ovarian(2;0.0408)		UCEC - Uterine corpus endometrioid carcinoma (45;0.0887)|Epithelial(1;9.28e-70)|all cancers(1;3.07e-60)|Colorectal(1;2.33e-53)|STAD - Stomach adenocarcinoma(1;7.22e-48)|COAD - Colon adenocarcinoma(3;1.05e-44)|READ - Rectum adenocarcinoma(3;2.41e-08)|KIRC - Kidney renal clear cell carcinoma(10;0.000109)|Kidney(10;0.000125)|Lung(1;0.000161)|LUSC - Lung squamous cell carcinoma(1;0.000742)|OV - Ovarian serous cystadenocarcinoma(275;0.00372)|BRCA - Breast invasive adenocarcinoma(55;0.00448)		AGAGGCAGGAAAGTCCTCCTT	0.502000			T	HMGA2	pleomorphic salivary gland adenoma				Renal Cell Cancer associated with constitutional translocation of chromosome 3					27			45		0	0	0.003610	0	0
EPHA6	285220	broad.mit.edu	37	3	97251309	97251309	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:97251309G>A	uc010how.1	+	10	2351	c.2308G>A	c.(2308-2310)Gat>Aat	p.D770N	EPHA6_uc011bgo.1_Non-coding_Transcript|EPHA6_uc011bgp.1_Missense_Mutation_p.D136N|EPHA6_uc003drs.4_Missense_Mutation_p.D162N|EPHA6_uc003drr.4_Missense_Mutation_p.D162N|EPHA6_uc003drt.3_Missense_Mutation_p.D162N|EPHA6_uc010hox.1_Non-coding_Transcript	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	Homo sapiens EPH receptor A6 (EPHA6), transcript variant 1, mRNA.	675	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						GCAAAGAAGAGATTTTCTAAG	0.438000														57			22		0	0	0.001882	0	0
F11	2160	broad.mit.edu	37	4	187205281	187205281	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:187205281G>A	uc003iza.1	+	10	1504	c.1171G>A	c.(1171-1173)Gga>Aga	p.G391R		NM_000128	NP_000119	P03951	FA11_HUMAN	Homo sapiens coagulation factor XI (F11), mRNA.	391	Peptidase S1.				blood coagulation, intrinsic pathway|plasminogen activation|positive regulation of fibrinolysis	extracellular space|plasma membrane	heparin binding|serine-type endopeptidase activity			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	32		all_cancers(14;6.2e-52)|all_epithelial(14;1.62e-38)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;2.13e-11)|BRCA - Breast invasive adenocarcinoma(30;4.59e-06)|GBM - Glioblastoma multiforme(59;0.000149)|STAD - Stomach adenocarcinoma(60;0.000314)|LUSC - Lung squamous cell carcinoma(40;0.00112)|READ - Rectum adenocarcinoma(43;0.176)	Coagulation Factor IX(DB00100)	GATCGTTGGAGGAACTGCGTC	0.517000														68			31		0	0	0.003755	0	0
EFCAB3	146779	broad.mit.edu	37	17	60469323	60469323	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:60469323G>A	uc010wpc.2	+	5	519	c.448G>A	c.(448-450)Gat>Aat	p.D150N	EFCAB3_uc002izu.2_Missense_Mutation_p.D98N	NM_001144933	NP_001138405	Q8N7B9	EFCB3_HUMAN	Homo sapiens EF-hand calcium binding domain 3 (EFCAB3), transcript variant 1, mRNA.	98							calcium ion binding			cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|skin(3)	17			BRCA - Breast invasive adenocarcinoma(2;2.27e-11)			TGCTGATATTGATCGTGAGTC	0.333000														83			29		0	0	0.007291	0	0
PCDHB5	26167	broad.mit.edu	37	5	140516800	140516800	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:140516800C>T	uc003liq.3	+	0	2001	c.1784C>T	c.(1783-1785)tCg>tTg	p.S595L		NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	Homo sapiens protocadherin beta 5 (PCDHB5), mRNA.	595	Cadherin 6.				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)			GACGGCGACTCGGGCCAGAAC	0.706000														57			18		0	0	0.006122	0	0
PLXNB1	5364	broad.mit.edu	37	3	48461036	48461036	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:48461036G>A	uc003csw.2	-	10	2929	c.2659C>T	c.(2659-2661)Ctc>Ttc	p.L887F	PLXNB1_uc003csu.2_Missense_Mutation_p.L704F|PLXNB1_uc003csx.2_Missense_Mutation_p.L887F|PLXNB1_uc010hjx.1_Non-coding_Transcript	NM_002673	NP_002664	O43157	PLXB1_HUMAN	Homo sapiens plexin B1 (PLXNB1), transcript variant 1, mRNA.	887					axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding	p.L887P(1)|p.I886V(1)		NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CTGGACGGGAGGATGAGGGGG	0.672000														52			14		0	0	0.004990	0	0
ST6GAL2	84620	broad.mit.edu	37	2	107450519	107450519	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:107450519T>G	uc002tdq.3	-	2	1146	c.1027A>C	c.(1027-1029)Atc>Ctc	p.I343L	ST6GAL2_uc002tdr.3_Missense_Mutation_p.I343L|ST6GAL2_uc002tds.3_Missense_Mutation_p.I343L	NM_001142351	NP_115917	Q96JF0	SIAT2_HUMAN	Homo sapiens ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 (ST6GAL2), transcript variant 2, mRNA.	343					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity	p.R342C(1)		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						GAATTAATGATGCGTATGGTG	0.398000														83			36		0	0	0.006999	0	0
ACD	65057	broad.mit.edu	37	16	67692482	67692482	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:67692482G>T	uc002etq.4	-	8	1400	c.1063C>A	c.(1063-1065)Cct>Act	p.P355T	ACD_uc002etp.4_Missense_Mutation_p.P352T|ACD_uc002etr.4_Missense_Mutation_p.P352T|ACD_uc010vjt.1_3'UTR|PARD6A_uc002ett.3_5'Flank|PARD6A_uc002ets.3_5'Flank	NM_001082486	NP_001075955	Q96AP0	ACD_HUMAN	Homo sapiens adrenocortical dysplasia homolog (mouse) (ACD), transcript variant 1, mRNA.	355	Ser-rich.				intracellular protein transport|negative regulation of telomere maintenance via telomerase|positive regulation of single-stranded telomeric DNA binding|positive regulation of telomerase activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|telomere assembly	nuclear telomere cap complex|nucleoplasm	DNA binding|DNA polymerase binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	17		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		GAGGAAGGAGGAGAGGCTATG	0.612000														33			12		2.61681e-11	3.17216e-11	0.002450	1	0
NBPF10	100132406	broad.mit.edu	37	1	145367767	145367767	+	Missense_Mutation	SNP	G	A	A	rs77484671		TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:145367767G>A	uc021oul.1	+	82	10398	c.10363G>A	c.(10363-10365)Gaa>Aaa	p.E3455K	NBPF10_uc010oye.2_Intron|NBPF10_uc010oyi.2_Intron|NBPF10_uc010oyj.2_Intron|NBPF10_uc010oyl.2_Intron	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 10 (NBPF10), mRNA.	3455								p.E3455K(10)		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)		atcaaagaaggaaagaagaag	0.423000														39			5		0	0	0.000602	0	0
MLH3	27030	broad.mit.edu	37	14	75483880	75483880	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:75483880G>A	uc001xrd.1	-	12	4483	c.4267C>T	c.(4267-4269)Cgc>Tgc	p.R1423C	MLH3_uc001xre.1_Missense_Mutation_p.R1399C	NM_001040108	NP_001035197	Q9UHC1	MLH3_HUMAN	Homo sapiens mutL homolog 3 (E. coli) (MLH3), transcript variant 1, mRNA.	1423					mismatch repair|reciprocal meiotic recombination	MutLbeta complex|chiasma|synaptonemal complex	ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44				BRCA - Breast invasive adenocarcinoma(234;0.00688)		GCCATTTTGCGAAGTTTAGTG	0.478000								Mismatch excision repair (MMR)						61			22		0	0	0.001523	0	0
G3BP1	10146	broad.mit.edu	37	5	151170506	151170506	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:151170506C>T	uc003lun.3	+	3	405	c.234C>T	c.(232-234)cgC>cgT	p.R78R	G3BP1_uc010jhy.1_Silent_p.R78R|G3BP1_uc003lum.3_Silent_p.R78R|G3BP1_uc011dcu.2_5'UTR|G3BP1_uc010jhz.3_5'UTR	NM_005754	NP_938405	Q13283	G3BP1_HUMAN	Homo sapiens GTPase activating protein (SH3 domain) binding protein 1 (G3BP1), transcript variant 1, mRNA.	78	NTF2.				Ras protein signal transduction|transport	cytosol|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|RNA binding|endonuclease activity|protein binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|skin(3)|urinary_tract(2)	29		all_hematologic(541;0.0338)|Medulloblastoma(196;0.091)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)			CCAAGATTCGCCATGTTGATG	0.408000														75			37		0	0	0.004289	0	0
TECPR2	9895	broad.mit.edu	37	14	102901338	102901338	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:102901338C>T	uc001ylw.2	+	8	2410	c.2184C>T	c.(2182-2184)gtC>gtT	p.V728V	TECPR2_uc010awl.3_Silent_p.V728V|TECPR2_uc010txx.2_Intron	NM_014844	NP_055659	O15040	TCPR2_HUMAN	Homo sapiens tectonin beta-propeller repeat containing 2 (TECPR2), transcript variant 1, mRNA.	728							protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						TGACTCCGGTCTCTGCCTTGG	0.557000														42			21		0	0	0.001882	0	0
CALN1	83698	broad.mit.edu	37	7	71488683	71488683	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:71488683C>T	uc003twb.4	-	4	851	c.460G>A	c.(460-462)Gat>Aat	p.D154N	CALN1_uc003twa.4_Missense_Mutation_p.D112N|CALN1_uc003twc.4_Missense_Mutation_p.D112N	NM_031468	NP_001017440	Q9BXU9	CABP8_HUMAN	Homo sapiens calneuron 1 (CALN1), transcript variant 1, mRNA.	112						Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding			biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2)	32		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)				AGAAAACCATCGCGACCTTCT	0.418000														77			22		0	0	0.006320	0	0
SLC17A3	10786	broad.mit.edu	37	6	25850383	25850383	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:25850383G>A	uc003nfk.4	-	8	1126	c.1016C>T	c.(1015-1017)cCt>cTt	p.P339L	SLC17A3_uc003nfi.4_Missense_Mutation_p.P261L|SLC17A3_uc011djz.1_3'UTR	NM_001098486	NP_001091956	O00476	NPT4_HUMAN	Homo sapiens solute carrier family 17 (sodium phosphate), member 3 (SLC17A3), transcript variant 1, mRNA.	261					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						AACAATAAAAGGAAGGGCAGA	0.378000														16			6		0	0	0.001168	0	0
NAPSA	9476	broad.mit.edu	37	19	50863086	50863086	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:50863086G>A	uc002prx.3	-	5	755	c.702C>T	c.(700-702)gtC>gtT	p.V234V	NR1H2_uc002prv.4_Intron	NM_004851	NP_004842	O96009	NAPSA_HUMAN	Homo sapiens napsin A aspartic peptidase (NAPSA), mRNA.	234					proteolysis	extracellular region	aspartic-type endopeptidase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183)		AGCCCCCCAGGACCAGCTCTC	0.617000														50			20		0	0	0.001523	0	0
GCNT3	9245	broad.mit.edu	37	15	59910957	59910957	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:59910957G>A	uc002age.3	+	2	969	c.520G>A	c.(520-522)Gag>Aag	p.E174K	GCNT3_uc002agd.3_Missense_Mutation_p.E174K|GCNT3_uc021smz.1_Missense_Mutation_p.E174K	NM_004751	NP_004742	O95395	GCNT3_HUMAN	Homo sapiens glucosaminyl (N-acetyl) transferase 3, mucin type (GCNT3), mRNA.	174					protein O-linked glycosylation	Golgi membrane|integral to membrane|membrane fraction	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity|beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity			central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						AACTTTCAAAGAGGCGGTCAA	0.468000														49			30		0	0	0.001786	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125192116	125192116	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:125192116G>A	uc010flu.3	+	4	949	c.585G>A	c.(583-585)caG>caA	p.Q195Q	CNTNAP5_uc002tno.3_Silent_p.Q195Q	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	Homo sapiens contactin associated protein-like 5 (CNTNAP5), mRNA.	195	Laminin G-like 1.				cell adhesion|signal transduction	integral to membrane	receptor binding			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)		GGTTCAATCAGAAGTTGATGA	0.458000														56			23		0	0	0.004656	0	0
ME3	10873	broad.mit.edu	37	11	86160976	86160976	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:86160976G>A	uc001pbz.3	-	8	1340	c.1086C>T	c.(1084-1086)gcC>gcT	p.A362A	ME3_uc001pca.3_Silent_p.A362A|ME3_uc009yvk.3_Silent_p.A362A|ME3_uc010rtr.1_Non-coding_Transcript	NM_001014811	NP_001155058	Q16798	MAON_HUMAN	Homo sapiens malic enzyme 3, NADP(+)-dependent, mitochondrial (ME3), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	362					aerobic respiration|malate metabolic process|oxygen metabolic process|pyruvate metabolic process	mitochondrial matrix	NAD binding|malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|metal ion binding			endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|skin(3)|stomach(2)|urinary_tract(1)	27		Acute lymphoblastic leukemia(157;4.34e-06)|all_hematologic(158;0.00252)			NADH(DB00157)	TCTTTCTTGTGGCCTCTGCCT	0.517000														89			61		0	0	0.003610	0	0
ABCA12	26154	broad.mit.edu	37	2	215872484	215872484	+	Silent	SNP	G	A	A	rs142281650		TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:215872484G>A	uc002vew.3	-	18	2779	c.2559C>T	c.(2557-2559)ttC>ttT	p.F853F	ABCA12_uc002vev.3_Silent_p.F535F|ABCA12_uc010zjn.2_5'UTR	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 12 (ABCA12), transcript variant 1, mRNA.	853					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TTAACAGATGGAAGGAATTCA	0.378000														50			25		0	0	0.006320	0	0
VIT	5212	broad.mit.edu	37	2	37028483	37028483	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:37028483G>A	uc002rpl.3	+	12	1400	c.1098G>A	c.(1096-1098)acG>acA	p.T366T	VIT_uc002rpm.3_Silent_p.T351T|VIT_uc010ezv.3_Silent_p.T329T|VIT_uc010ezw.3_Silent_p.T330T	NM_053276	NP_444506	Q6UXI7	VITRN_HUMAN	Homo sapiens vitrin (VIT), transcript variant 1, mRNA.	351	VWFA 1.					proteinaceous extracellular matrix				autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				AGACACACACGAATTCTCGAG	0.393000														178			58		0	0	0.003610	0	0
EPHA4	2043	broad.mit.edu	37	2	222291234	222291234	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:222291234G>A	uc002vmq.3	-	15	2838	c.2796C>T	c.(2794-2796)ttC>ttT	p.F932F	EPHA4_uc002vmr.2_Silent_p.F932F|EPHA4_uc010zlm.1_Silent_p.F873F	NM_004438	NP_004429	P54764	EPHA4_HUMAN	Homo sapiens EPH receptor A4 (EPHA4), mRNA.	932	SAM.					integral to plasma membrane	ATP binding|ephrin receptor activity	p.F932F(4)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		CAGCAGCTGTGAAGTTATCCT	0.463000														38			6		0	0	0.001984	0	0
ODZ4	26011	broad.mit.edu	37	11	78412931	78412931	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:78412931T>C	uc001ozl.4	-	27	5190	c.4727A>G	c.(4726-4728)tAt>tGt	p.Y1576C		NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 4 (Drosophila) (ODZ4), mRNA.	1576					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						AGACAGCTCATACATGTTCTG	0.522000														63			35		0	0	0.004878	0	0
HCAR2	338442	broad.mit.edu	37	12	123187473	123187473	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:123187473C>T	uc001ucx.1	-	0	432	c.358G>A	c.(358-360)Gtg>Atg	p.V120M	HCAR1_uc001ucw.1_Intron	NM_177551	NP_808219	Q8TDS4	HCAR2_HUMAN	Homo sapiens hydroxycarboxylic acid receptor 2 (HCAR2), mRNA.	120					negative regulation of lipid catabolic process|neutrophil apoptosis|positive regulation of adiponectin secretion|positive regulation of neutrophil apoptosis	integral to membrane|plasma membrane	nicotinic acid receptor activity|purinergic nucleotide receptor activity, G-protein coupled			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	15					Mepenzolate(DB04843)|Niacin(DB00627)	ACCGCCACCACCGTGAGGAAG	0.572000														47			27		0	0	0.004656	0	0
MGAM	8972	broad.mit.edu	37	7	141721447	141721447	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:141721447G>A	uc003vwy.3	+	5	674	c.620G>A	c.(619-621)gGa>gAa	p.G207E		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	207	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TCCTTCAGTGGAAATGCTGCT	0.418000														46			22		0	0	0.001523	0	0
RALGPS1	9649	broad.mit.edu	37	9	129974488	129974488	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:129974488C>T	uc004bqo.2	+	14	1593	c.1326C>T	c.(1324-1326)acC>acT	p.T442T	RALGPS1_uc011mac.2_Silent_p.T400T|RALGPS1_uc004bqq.4_Silent_p.T400T	NM_014636	NP_055451	Q5JS13	RGPS1_HUMAN	Homo sapiens Ral GEF with PH domain and SH3 binding motif 1 (RALGPS1), transcript variant 1, mRNA.	442	PH.|Required for stimulation of nucleotide exchange by RALA.				small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity			kidney(2)|large_intestine(6)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						GAAGAAAAACCCTGCTCAAGG	0.602000														20			5		0	0	0.001984	0	0
PLS3	5358	broad.mit.edu	37	X	114869286	114869286	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chrX:114869286C>T	uc004eqe.3	+	6	810	c.676C>T	c.(676-678)Ctg>Ttg	p.L226L	PLS3_uc010nqg.3_Intron|PLS3_uc004eqd.3_Silent_p.L226L|PLS3_uc011mtf.2_Silent_p.L204L|PLS3_uc011mth.2_Silent_p.L181L|PLS3_uc011mtg.2_Silent_p.L199L	NM_001136025	NP_005023	P13797	PLST_HUMAN	Homo sapiens plastin 3 (PLS3), transcript variant 2, mRNA.	226	Actin-binding 1.|CH 1.					cytoplasm	actin binding|calcium ion binding			NS(2)|breast(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)	26						GAAACCTCATCTGGTTTTGGG	0.448000														32			66		0	0	0.003610	0	0
HSD17B4	3295	broad.mit.edu	37	5	118860975	118860975	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:118860975T>C	uc003ksj.3	+	17	1701	c.1568T>C	c.(1567-1569)cTa>cCa	p.L523P	HSD17B4_uc011cwh.2_Missense_Mutation_p.L505P|HSD17B4_uc011cwg.2_Missense_Mutation_p.L499P|HSD17B4_uc011cwi.2_Missense_Mutation_p.L548P|HSD17B4_uc003ksk.4_Missense_Mutation_p.L376P|HSD17B4_uc011cwj.2_Missense_Mutation_p.L376P|HSD17B4_uc010jcn.2_Missense_Mutation_p.L261P	NM_000414	NP_000405	P51659	DHB4_HUMAN	Homo sapiens hydroxysteroid (17-beta) dehydrogenase 4 (HSD17B4), transcript variant 2, mRNA.	523	Enoyl-CoA hydratase 2.|MaoC-like.				bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3-hydroxyacyl-CoA dehydrogenase activity|3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity|estradiol 17-beta-dehydrogenase activity|isomerase activity|long-chain-enoyl-CoA hydratase activity|protein binding|sterol binding|sterol transporter activity			breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(2)	25		all_cancers(142;0.0206)|Prostate(80;0.0322)		OV - Ovarian serous cystadenocarcinoma(64;0.000247)|Epithelial(69;0.000849)|all cancers(49;0.0122)	NADH(DB00157)	TTTGCTAGTCTAGCAGGTGAG	0.358000														37			14		0	0	0.004007	0	0
PCDHB6	56130	broad.mit.edu	37	5	140531767	140531768	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:140531767_140531768GG>AA	uc003lir.3	+	0	1929_1930	c.1929_1930GG>AA	c.(1927-1932)aaggac>aaAAac	p.D644N		NM_018939	NP_061762	Q9Y5E3	PCDB6_HUMAN	Homo sapiens protocadherin beta 6 (PCDHB6), mRNA.	644	Cadherin 6.				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)			TGCTTGTCAAGGACAATGGCGA	0.698000														44			13		0	0	0.004672	0	0
PCDH18	54510	broad.mit.edu	37	4	138452154	138452154	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:138452154T>A	uc003ihe.4	-	0	1476	c.1089A>T	c.(1087-1089)aaA>aaT	p.K363N	PCDH18_uc003ihf.4_Missense_Mutation_p.K356N|PCDH18_uc011cgz.2_Intron|PCDH18_uc003ihg.4_Missense_Mutation_p.K143N|PCDH18_uc011cha.2_Intron	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	Homo sapiens protocadherin 18 (PCDH18), mRNA.	363	Cadherin 4.				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)					ATATTTCTTCTTTTCCAGGGG	0.358000														22			12		0	0	0.001368	0	0
ATP2A3	489	broad.mit.edu	37	17	3851089	3851090	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:3851089_3851090CC>TT	uc002fwy.2	-	7	863_864	c.690_691GG>AA	c.(688-693)acggag>acAAag	p.E231K	ATP2A3_uc002fwz.2_Missense_Mutation_p.E231K|ATP2A3_uc002fxa.2_Missense_Mutation_p.E231K|ATP2A3_uc002fxb.2_Missense_Mutation_p.E231K|ATP2A3_uc002fxc.2_Missense_Mutation_p.E231K|ATP2A3_uc002fxd.2_Missense_Mutation_p.E231K|ATP2A3_uc002fwx.2_Missense_Mutation_p.E231K	NM_174953	NP_777613	Q93084	AT2A3_HUMAN	Homo sapiens ATPase, Ca++ transporting, ubiquitous (ATP2A3), transcript variant 5, mRNA.	231					ATP biosynthetic process|platelet activation	integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		TTGCCCAGCTCCGTGTGCAGGC	0.663000														36			10		0	0	0.004672	0	0
CUZD1	50624	broad.mit.edu	37	10	124596416	124596417	+	Missense_Mutation	DNP	CT	TG	TG			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:124596416_124596417CT>TG	uc001lgs.3	-	6	1698_1699	c.747_748AG>CA	c.(745-750)acagat>acCAat	p.D250N	CUZD1_uc001lgp.3_5'UTR|CUZD1_uc009yad.3_5'UTR|CUZD1_uc009yaf.3_Intron|CUZD1_uc001lgr.3_5'UTR|CUZD1_uc010qty.2_Splice_Site|CUZD1_uc009yae.3_Splice_Site|CUZD1_uc010qtz.2_Missense_Mutation_p.D250N	NM_022034	NP_071317	Q86UP6	CUZD1_HUMAN	Homo sapiens CUB and zona pellucida-like domains 1 (CUZD1), transcript variant 1, mRNA.	250	CUB 2.				cell cycle|cell division|cell proliferation|substrate-dependent cell migration, cell attachment to substrate|trypsinogen activation	integral to membrane|transport vesicle membrane|zymogen granule membrane				NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|stomach(1)	39		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.126)|COAD - Colon adenocarcinoma(40;0.141)		TTGGCATAATCTGTAGACAACA	0.436000														50			25		0	0	0.004672	0	0
S100A8	6279	broad.mit.edu	37	1	153362584	153362584	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:153362584C>T	uc001fbs.3	-	2	447	c.277G>A	c.(277-279)Gag>Aag	p.E93K		NM_002964	NP_002955	P05109	S10A8_HUMAN	Homo sapiens S100 calcium binding protein A8 (S100A8), mRNA.	93				VAAHKKSHEESHKE -> WQPTKKAMKKATKSS (in Ref. 1; CAA68390).	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)			CTCAGCTACTCTTTGTGGCTT	0.473000														77			25		0	0	0.005443	0	0
DAB2IP	153090	broad.mit.edu	37	9	124535734	124535735	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:124535734_124535735GG>AA	uc004bln.3	+	11	2912_2913	c.2843_2844GG>AA	c.(2842-2844)ggg>gAA	p.G948E	DAB2IP_uc004blo.3_Missense_Mutation_p.G852E|DAB2IP_uc004blp.3_Missense_Mutation_p.G381E	NM_032552	NP_115941	Q5VWQ8	DAB2P_HUMAN	Homo sapiens DAB2 interacting protein (DAB2IP), transcript variant 1, mRNA.	976	Pro-rich.				activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|intrinsic to internal side of plasma membrane	14-3-3 protein binding|Ras GTPase activator activity|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|signaling adaptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						TCCTCCAAGGGGGACAGCCCAG	0.649000														5			5		0	0	0.004672	0	0
STXBP5L	9515	broad.mit.edu	37	3	120924811	120924811	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:120924811C>T	uc003eec.4	+	9	1059	c.919C>T	c.(919-921)Cca>Tca	p.P307S	STXBP5L_uc011bji.2_Missense_Mutation_p.P307S	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN	Homo sapiens syntaxin binding protein 5-like (STXBP5L), mRNA.	307					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)		ATCTTGTAAACCAATTCTTAA	0.284000														71			29		0	0	0.003271	0	0
ZNF324B	388569	broad.mit.edu	37	19	58966929	58966929	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:58966929C>T	uc002qsv.1	+	3	725	c.618C>T	c.(616-618)gcC>gcT	p.A206A	ZNF324B_uc002qsu.1_Silent_p.A196A|ZNF324B_uc010euq.1_Silent_p.A206A	NM_207395	NP_997278	Q6AW86	Z324B_HUMAN	Homo sapiens zinc finger protein 324B (ZNF324B), mRNA.	206					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		CTGGGAGAGCCTTCGGGAATG	0.657000														22			7		0	0	0.004482	0	0
SNCAIP	9627	broad.mit.edu	37	5	121787122	121787122	+	Silent	SNP	T	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:121787122T>A	uc003ksw.1	+	9	2786	c.2580T>A	c.(2578-2580)ccT>ccA	p.P860P	SNCAIP_uc011cwl.1_Silent_p.P418P|SNCAIP_uc003ksy.1_Silent_p.P494P|SNCAIP_uc003ksx.1_Silent_p.P907P|SNCAIP_uc003ksz.1_Silent_p.P494P|SNCAIP_uc010jcu.2_Silent_p.P456P|SNCAIP_uc011cwm.1_Silent_p.P494P|SNCAIP_uc003kta.1_Silent_p.P492P|SNCAIP_uc010jcv.1_Non-coding_Transcript|SNCAIP_uc010jcw.1_Silent_p.P554P|SNCAIP_uc010jcx.1_Silent_p.P800P|BC029465_uc003ktb.1_Intron|SNCAIP_uc003ktc.1_Silent_p.P376P	NM_005460	NP_005451	Q9Y6H5	SNCAP_HUMAN	Homo sapiens synuclein, alpha interacting protein (SNCAIP), transcript variant 1, mRNA.	860					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		TGAAAAGGCCTTTTGGAGCCT	0.463000														53			25		0	0	0.003330	0	0
PIP5KL1	138429	broad.mit.edu	37	9	130688150	130688150	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:130688150G>A	uc011mao.2	-	7	804	c.759C>T	c.(757-759)aaC>aaT	p.N253N	PIP5KL1_uc004bsu.3_Silent_p.N50N	NM_001135219	NP_001128691	Q5T9C9	PI5L1_HUMAN	Homo sapiens phosphatidylinositol-4-phosphate 5-kinase-like 1 (PIP5KL1), transcript variant 1, mRNA.	253	PIPK.					cytoplasm|membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|skin(1)	8						GCTCACCCAGGTTGATGGTCT	0.597000														36			16		0	0	0.004990	0	0
CEP78	84131	broad.mit.edu	37	9	80880377	80880377	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:80880377C>T	uc004aky.4	+	13	1994	c.1718C>T	c.(1717-1719)cCa>cTa	p.P573L	CEP78_uc004akx.2_Missense_Mutation_p.P572L|CEP78_uc010mpp.3_Missense_Mutation_p.P573L|CEP78_uc004akz.1_Missense_Mutation_p.P60L	NM_001098802	NP_001092272	Q5JTW2	CEP78_HUMAN	Homo sapiens centrosomal protein 78kDa (CEP78), transcript variant 1, mRNA.	572					G2/M transition of mitotic cell cycle	centrosome|cytosol				breast(1)|cervix(1)|endometrium(5)|large_intestine(7)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	21						GTTAGTAATCCACCTAAAGAA	0.438000														7			7		0	0	0.001984	0	0
NPY	4852	broad.mit.edu	37	7	24329170	24329170	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:24329170G>A	uc003sww.2	+	2	329	c.241G>A	c.(241-243)Gaa>Aaa	p.E81K		NM_000905	NP_000896	P01303	NPY_HUMAN	Homo sapiens neuropeptide Y (NPY), mRNA.	81					G-protein signaling, coupled to cyclic nucleotide second messenger|adult feeding behavior|calcium ion transport|cell proliferation|cellular component movement|central nervous system neuron development|cerebral cortex development|digestion|neuron projection development|neuropeptide signaling pathway|positive regulation of appetite|synaptic transmission	cell|extracellular space	G-protein coupled receptor activity|calcium channel regulator activity|neuropeptide hormone activity			breast(1)|kidney(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	9						CTTGATGAGAGAAAGCACAGA	0.443000														68			17		0	0	0.007413	0	0
FAM134C	162427	broad.mit.edu	37	17	40733942	40733942	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:40733942G>T	uc002ial.2	-	8	1393	c.1290C>A	c.(1288-1290)ttC>ttA	p.F430L	FAM134C_uc010wgq.1_Missense_Mutation_p.F230L|FAM134C_uc002iam.1_Missense_Mutation_p.F230L|FAM134C_uc010cyk.1_Missense_Mutation_p.F333L	NM_178126	NP_835227	Q86VR2	F134C_HUMAN	Homo sapiens family with sequence similarity 134, member C (FAM134C), transcript variant 1, mRNA.	430						integral to membrane				endometrium(1)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	11		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.134)		GGGACCGGAGGAAGCCTCTCG	0.602000														25			10		2.17888e-05	2.62283e-05	0.006214	1	0
SALL1	6299	broad.mit.edu	37	16	51174599	51174599	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:51174599G>T	uc021tif.1	-	1	1565	c.1243C>A	c.(1243-1245)Cct>Act	p.P415T	SALL1_uc021tid.1_Missense_Mutation_p.P415T|SALL1_uc021tie.1_Missense_Mutation_p.P512T|SALL1_uc010cbv.3_Intron	NM_001127892	NP_001121364	Q9NSC2	SALL1_HUMAN	Homo sapiens sal-like 1 (Drosophila) (SALL1), transcript variant 2, mRNA.	512					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)			TCAGGCACAGGATAGGGGTTC	0.517000														54			26		8.24728e-16	1.00235e-15	0.004656	1	0
OR10P1	121130	broad.mit.edu	37	12	56031539	56031539	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:56031539C>T	uc010spq.2	+	0	864	c.864C>T	c.(862-864)ccC>ccT	p.P288P		NM_206899	NP_996782	Q8NGE3	O10P1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily P, member 1 (OR10P1), mRNA.	288					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26						TGCTCAACCCCATCATCTACA	0.597000														36			16		0	0	0.004990	0	0
IL18R1	8809	broad.mit.edu	37	2	103010932	103010932	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:103010932G>A	uc002tbw.4	+	9	1265	c.1115G>A	c.(1114-1116)gGa>gAa	p.G372E	IL18R1_uc010ywd.2_Missense_Mutation_p.G216E|IL18R1_uc010fiy.3_Missense_Mutation_p.G372E|IL18R1_uc010ywc.2_Missense_Mutation_p.G371E	NM_003855	NP_003846	Q13478	IL18R_HUMAN	Homo sapiens interleukin 18 receptor 1 (IL18R1), mRNA.	372					innate immune response	integral to membrane|plasma membrane	interleukin-1 receptor activity			breast(1)|endometrium(3)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						CTCCTAGATGGAAAAACATAT	0.358000														27			16		0	0	0.007413	0	0
HM13	81502	broad.mit.edu	37	20	30142581	30142581	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr20:30142581C>T	uc002wwc.3	+	7	871	c.757C>T	c.(757-759)Ctc>Ttc	p.L253F	HM13_uc002wwd.3_Missense_Mutation_p.L253F|HM13_uc002wwe.3_Missense_Mutation_p.L253F|HM13_uc002wwf.3_Missense_Mutation_p.L129F	NM_178581	NP_848696	Q8TCT9	HM13_HUMAN	Homo sapiens histocompatibility (minor) 13 (HM13), transcript variant 3, mRNA.	253					membrane protein proteolysis	cell surface|endoplasmic reticulum membrane|integral to membrane|plasma membrane	aspartic-type endopeptidase activity|protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	12	all_cancers(5;3.44e-05)|Lung NSC(7;4.38e-06)|all_lung(7;7.65e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		all cancers(5;0.000479)|Colorectal(19;0.00202)|COAD - Colon adenocarcinoma(19;0.0264)			GGAGAAAGGCCTCGAAGCAAA	0.517000														51			9		0	0	0.000978	0	0
PLXNA2	5362	broad.mit.edu	37	1	208207908	208207908	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:208207908G>A	uc001hgz.3	-	26	5552	c.4794C>T	c.(4792-4794)gtC>gtT	p.V1598V		NM_025179	NP_079455	O75051	PLXA2_HUMAN	Homo sapiens plexin A2 (PLXNA2), mRNA.	1598					axon guidance	integral to membrane|intracellular|plasma membrane				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		TCTGTTTGGGGACCAGAGCCA	0.537000														31			17		0	0	0.008871	0	0
C11orf53	341032	broad.mit.edu	37	11	111156615	111156615	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:111156615C>T	uc001plc.3	+	3	694	c.547C>T	c.(547-549)Ccc>Tcc	p.P183S		NM_198498	NP_940900	Q8IXP5	CK053_HUMAN	Homo sapiens chromosome 11 open reading frame 53 (C11orf53), mRNA.	183										endometrium(1)|large_intestine(2)|lung(3)|skin(2)	8		all_cancers(61;2.05e-09)|Melanoma(852;4.04e-05)|all_epithelial(67;6.15e-05)|all_hematologic(158;0.000826)|Acute lymphoblastic leukemia(157;0.000966)|all_neural(223;0.0332)|Medulloblastoma(222;0.0425)|Breast(348;0.147)		Epithelial(105;1.7e-06)|BRCA - Breast invasive adenocarcinoma(274;3.16e-06)|all cancers(92;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0507)		GCCTCCTTACCCCTTCACCCC	0.607000														35			20		0	0	0.005443	0	0
TMEM74B	55321	broad.mit.edu	37	20	1161792	1161792	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr20:1161792C>T	uc002weq.1	-	1	1143	c.471G>A	c.(469-471)cgG>cgA	p.R157R	TMEM74B_uc010gaa.1_Silent_p.R157R	NM_018354	NP_060824	Q9NUR3	CT046_HUMAN	Homo sapiens transmembrane protein 74B (TMEM74B), mRNA.	157						integral to membrane	protein binding										GTTCCATCTCCCGCGCTGTCA	0.617000														24			12		0	0	0.001368	0	0
OR7D4	125958	broad.mit.edu	37	19	9325081	9325081	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:9325081C>T	uc002mla.2	-	0	467	c.433G>A	c.(433-435)Gtt>Att	p.V145I		NM_001005191	NP_001005191	Q8NG98	OR7D4_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily D, member 4 (OR7D4), mRNA.	145					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						GATGCCAGAACCAGGAGGCCA	0.512000														39			6		0	0	0.001168	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37486386	37486386	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:37486386G>A	uc021ppc.1	+	28	2625	c.2526G>A	c.(2524-2526)aaG>aaA	p.K842K	ANKRD30A_uc001iza.1_Silent_p.K842K	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	898						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						TGGAATTGAAGAATGAACAAA	0.338000														69			24		0	0	0.005443	0	0
PODN	127435	broad.mit.edu	37	1	53535775	53535775	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:53535775G>C	uc001cuv.3	+	1	560	c.392G>C	c.(391-393)gGc>gCc	p.G131A	PODN_uc010onr.2_Missense_Mutation_p.G112A|PODN_uc010ons.2_Missense_Mutation_p.G131A|PODN_uc001cuw.3_Missense_Mutation_p.G112A	NM_153703	NP_714914	Q7Z5L7	PODN_HUMAN	Homo sapiens podocan (PODN), transcript variant 1, mRNA.	83					negative regulation of cell migration|negative regulation of cell proliferation	cytoplasm|extracellular space|proteinaceous extracellular matrix	collagen binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						GTGGACTGTGGCGGTATTGAC	0.682000														39			20		0	0	0.002299	0	0
CNTNAP3	79937	broad.mit.edu	37	9	39149935	39149935	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:39149935G>A	uc004abi.3	-	9	1756	c.1517C>T	c.(1516-1518)cCc>cTc	p.P506L	CNTNAP3_uc004abj.3_Missense_Mutation_p.P506L|CNTNAP3_uc011lqr.2_Intron|CNTNAP3_uc004abk.1_Missense_Mutation_p.P506L|CNTNAP3_uc011lqs.1_Intron	NM_033655	NP_387504	Q9BZ76	CNTP3_HUMAN	Homo sapiens contactin associated protein-like 3 (CNTNAP3), mRNA.	506	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)		CCCTCCCAGGGGGCTTTTACA	0.498000														33			10		0	0	0.000978	0	0
JAG2	3714	broad.mit.edu	37	14	105609069	105609069	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:105609069C>T	uc001yqg.3	-	25	4084	c.3680G>A	c.(3679-3681)aGg>aAg	p.R1227K	JAG2_uc001yqf.3_Missense_Mutation_p.R631K|JAG2_uc001yqh.3_Missense_Mutation_p.R1189K	NM_002226	NP_002217	Q9Y219	JAG2_HUMAN	Homo sapiens jagged 2 (JAG2), transcript variant 1, mRNA.	1227					Notch receptor processing|Notch signaling pathway|auditory receptor cell fate commitment|cell communication|cell cycle|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection	integral to plasma membrane	Notch binding|calcium ion binding|growth factor activity			breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		ATTGATGCTCCTGACCGCGCG	0.687000														5			17		0	0	0.004990	0	0
UTP15	84135	broad.mit.edu	37	5	72873745	72873745	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:72873745C>T	uc003kcw.1	+	8	1182	c.959C>T	c.(958-960)tCt>tTt	p.S320F	UTP15_uc011cso.1_Missense_Mutation_p.S301F|UTP15_uc011csp.1_Missense_Mutation_p.S130F|UTP15_uc010ize.1_Missense_Mutation_p.S320F	NM_032175	NP_115551	Q8TED0	UTP15_HUMAN	Homo sapiens UTP15, U3 small nucleolar ribonucleoprotein, homolog (S. cerevisiae) (UTP15), mRNA.	320					rRNA processing	cytoplasm|nucleolus				endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	15		Lung NSC(167;0.00405)|Ovarian(174;0.0129)		OV - Ovarian serous cystadenocarcinoma(47;7.76e-55)		CATCGGAAATCTGAAGCAAAG	0.343000														56			28		0	0	0.007291	0	0
RFX4	5992	broad.mit.edu	37	12	107114653	107114653	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:107114653C>T	uc001tlt.3	+	13	1518	c.1378_splice	c.e13+1	p.G460_splice	LOC100287944_uc021rdg.1_Intron|RFX4_uc001tlr.3_Splice_Site_p.G451_splice|RFX4_uc001tls.3_Splice_Site_p.G460_splice|RFX4_uc001tlv.3_Splice_Site_p.G357_splice	NM_001206691	NP_001193620	Q33E94	RFX4_HUMAN	Homo sapiens regulatory factor X, 4 (influences HLA class II expression) (RFX4), transcript variant 4, mRNA.	451	Necessary for dimerization.				transcription, DNA-dependent	nucleus	DNA binding			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						CCCCCAGCTTCGGTAAGGCCA	0.567000														51			29		0	0	0.002445	0	0
ABCB6	10058	broad.mit.edu	37	2	220080739	220080739	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:220080739G>A	uc002vkc.2	-	4	2913	c.1134C>T	c.(1132-1134)tcC>tcT	p.S378S	ABCB6_uc010fwe.2_Silent_p.S332S|ABCB6_uc010zku.1_Intron	NM_005689	NP_005680	Q9NP58	ABCB6_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 6 (ABCB6), nuclear gene encoding mitochondrial protein, mRNA.	378	ABC transmembrane type-1.				cadmium ion transmembrane transport|cellular iron ion homeostasis|detoxification of cadmium ion|porphyrin biosynthetic process	ATP-binding cassette (ABC) transporter complex|Golgi apparatus|integral to mitochondrial outer membrane|plasma membrane|vacuolar membrane	ATP binding|efflux transmembrane transporter activity|heme binding|heme-transporting ATPase activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	34		Renal(207;0.0474)		Epithelial(149;1.22e-06)|all cancers(144;0.000201)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTGTGACACTGGATGTGCCCC	0.667000														9			5		0	0	0.001984	0	0
GNAL	2774	broad.mit.edu	37	18	11868595	11868595	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr18:11868595C>T	uc002kqc.2	+	8	1391	c.964C>T	c.(964-966)Cga>Tga	p.R322*	GNAL_uc002kqd.2_Nonsense_Mutation_p.R245*|GNAL_uc010dkz.2_Nonsense_Mutation_p.R245*|GNAL_uc010wzt.1_Nonsense_Mutation_p.R38*	NM_182978	NP_892023	P38405	GNAL_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type (GNAL), transcript variant 1, mRNA.	245					activation of adenylate cyclase activity by dopamine receptor signaling pathway|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception of smell|synaptic transmission	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|adenylate cyclase activity|signal transducer activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1)	12						CATGGTGATTCGAGAAGATAA	0.443000														62			33		0	0	0.004289	0	0
CNTN3	5067	broad.mit.edu	37	3	74351883	74351884	+	Missense_Mutation	DNP	CC	TA	TA			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:74351883_74351884CC>TA	uc003dpm.1	-	12	1823_1824	c.1743_1744GG>TA	c.(1741-1746)acgggg>acTAgg	p.G582R		NM_020872	NP_065923	Q9P232	CNTN3_HUMAN	Homo sapiens contactin 3 (plasmacytoma associated) (CNTN3), mRNA.	582	Ig-like C2-type 6.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		CTGTCCACCCCCGTTTGCACCA	0.406000														16			24		0	0	0.004672	0	0
PPL	5493	broad.mit.edu	37	16	4944501	4944501	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:4944501G>A	uc002cyd.1	-	11	1451	c.1361C>T	c.(1360-1362)cCc>cTc	p.P454L		NM_002705	NP_002696	O60437	PEPL_HUMAN	Homo sapiens periplakin (PPL), mRNA.	454					keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						AGGGTCTGTGGGGGGGATCAC	0.612000														35			7		0	0	0.004482	0	0
RYR3	6263	broad.mit.edu	37	15	33938583	33938583	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:33938583C>T	uc001zhi.3	+	28	3867	c.3797C>T	c.(3796-3798)cCt>cTt	p.P1266L	RYR3_uc010bar.3_Missense_Mutation_p.P1266L	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	1266	4 X approximate repeats.|B30.2/SPRY 3.				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)		ATGGACAGCCCTCCGTGTCTC	0.527000														88			57		0	0	0.003610	0	0
ZNF440	126070	broad.mit.edu	37	19	11942536	11942536	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:11942536T>C	uc002msp.1	+	3	701	c.545T>C	c.(544-546)aTt>aCt	p.I182T	ZNF440_uc021upk.1_5'Flank	NM_152357	NP_689570	Q8IYI8	ZN440_HUMAN	Homo sapiens zinc finger protein 440 (ZNF440), mRNA.	182					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(9)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						AAAACCTTTATTTCCCATTCA	0.403000														90			37		0	0	0.004289	0	0
EPHA6	285220	broad.mit.edu	37	3	96706243	96706243	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:96706243G>A	uc010how.1	+	2	563	c.520G>A	c.(520-522)Gaa>Aaa	p.E174K	EPHA6_uc003drp.1_Missense_Mutation_p.E174K	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	Homo sapiens EPH receptor A6 (EPHA6), transcript variant 1, mRNA.	79	Ephrin-binding.					integral to plasma membrane	ATP binding|ephrin receptor activity	p.R174C(2)		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						TAATGTAATGGAACCAAACCA	0.388000														93			40		0	0	0.007835	0	0
COL3A1	1281	broad.mit.edu	37	2	189853340	189853340	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:189853340C>T	uc002uqj.1	+	6	724	c.607C>T	c.(607-609)Cct>Tct	p.P203S		NM_000090	NP_000081	P02461	CO3A1_HUMAN	Homo sapiens collagen, type III, alpha 1 (COL3A1), mRNA.	203	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	CCAAGGACCCCCTGGTGAACC	0.333000														32			10		0	0	0.002450	0	0
DSCAM	1826	broad.mit.edu	37	21	41668096	41668096	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr21:41668096G>A	uc002yyq.1	-	9	2520	c.2068C>T	c.(2068-2070)Ccc>Tcc	p.P690S	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.	690	Ig-like C2-type 8.				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)				ACAAACTTGGGAGGAACTGAA	0.413000														42			6		0	0	0.001984	0	0
FOXL1	2300	broad.mit.edu	37	16	86612503	86612503	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:86612503C>T	uc002fjr.3	+	0	389	c.174C>T	c.(172-174)atC>atT	p.I58I		NM_005250	NP_005241	Q12952	FOXL1_HUMAN	Homo sapiens forkhead box L1 (FOXL1), mRNA.	58					brain development|camera-type eye development|cartilage development|embryo development|forelimb morphogenesis|heart development|organ morphogenesis|pattern specification process|proteoglycan biosynthetic process|regulation of Wnt receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|visceral mesoderm-endoderm interaction involved in midgut 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			central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(2)|prostate(3)|skin(1)|urinary_tract(1)	15						TCGCGCTCATCGCCATGGCGA	0.677000														31			12		0	0	0.000978	0	0
OR1F1	4992	broad.mit.edu	37	16	3254528	3254528	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:3254528C>T	uc010uwu.2	+	0	282	c.282C>T	c.(280-282)ttC>ttT	p.F94F		NM_012360	NP_036492	O43749	OR1F1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily F, member 1 (OR1F1), mRNA.	94					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F94F(2)		breast(1)|endometrium(1)|large_intestine(2)|lung(7)	11						CCATCTCCTTCTGTGGCTGTC	0.502000														109			52		0	0	0.003610	0	0
USP29	57663	broad.mit.edu	37	19	57641002	57641002	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:57641002G>A	uc002qny.3	+	3	1315	c.959G>A	c.(958-960)tGg>tAg	p.W320*	USP29_uc021vci.1_Nonsense_Mutation_p.W320*	NM_020903	NP_065954	Q9HBJ7	UBP29_HUMAN	Homo sapiens ubiquitin specific peptidase 29 (USP29), mRNA.	320					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)		GGTGTCCCATGGGAATATATT	0.393000														52			26		0	0	0.007291	0	0
CCDC9	26093	broad.mit.edu	37	19	47773840	47773840	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:47773840C>T	uc010xym.2	+	9	1187	c.980C>T	c.(979-981)cCc>cTc	p.P327L		NM_015603	NP_056418	Q9Y3X0	CCDC9_HUMAN	Homo sapiens coiled-coil domain containing 9 (CCDC9), mRNA.	327										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	12		all_cancers(25;0.0432)|all_epithelial(76;0.00812)|Medulloblastoma(540;0.0208)|all_neural(266;0.0416)|Hepatocellular(1079;0.114)		OV - Ovarian serous cystadenocarcinoma(262;8.51e-95)|Epithelial(262;1.15e-92)|all cancers(93;7.67e-84)|GBM - Glioblastoma multiforme(486;0.024)|STAD - Stomach adenocarcinoma(1328;0.183)		CCCCCGAAGCCCCCTACTTTT	0.652000														55			11		0	0	0.002450	0	0
FGF23	8074	broad.mit.edu	37	12	4479634	4479634	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:4479634G>A	uc001qmq.1	-	2	777	c.631C>T	c.(631-633)Ccg>Tcg	p.P211S		NM_020638	NP_065689	Q9GZV9	FGF23_HUMAN	Homo sapiens fibroblast growth factor 23 (FGF23), mRNA.	211					cell differentiation|insulin receptor signaling pathway|negative regulation of bone mineralization|negative regulation of hormone secretion|negative regulation of osteoblast differentiation|positive regulation of vitamin D 24-hydroxylase activity|regulation of phosphate transport|vitamin D catabolic process	extracellular space	growth factor activity			NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	22			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206)			TCGGCGCTCGGGAGCTCCTGT	0.716000														27			13		0	0	0.001855	0	0
ZNF324	25799	broad.mit.edu	37	19	58982241	58982241	+	Missense_Mutation	SNP	G	A	A	rs147519125	byFrequency	TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:58982241G>A	uc002qsw.2	+	3	527	c.382G>A	c.(382-384)Gcc>Acc	p.A128T		NM_014347	NP_055162	O75467	Z324A_HUMAN	Homo sapiens zinc finger protein 324 (ZNF324), mRNA.	128					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(2)|prostate(2)|urinary_tract(2)	16		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		ACAACGGGGTGCCTCCCCATC	0.617000														50			22		0	0	0.002780	0	0
TMCO3	55002	broad.mit.edu	37	13	114152835	114152835	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr13:114152835C>T	uc001vtu.4	+	3	985	c.624_splice	c.e3+1	p.S208_splice	TMCO3_uc001vtt.4_Splice_Site_p.S208_splice	NM_017905	NP_060375	Q6UWJ1	TMCO3_HUMAN	Homo sapiens transmembrane and coiled-coil domains 3 (TMCO3), mRNA.	208						integral to membrane	solute:hydrogen antiporter activity			NS(1)|endometrium(4)|large_intestine(9)|liver(1)|lung(8)|prostate(1)|stomach(1)	25	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983)	all cancers(43;0.0317)			GACAATAAATCAGTAAGCGTT	0.408000														43			15		0	0	0.003163	0	0
ITPR3	3710	broad.mit.edu	37	6	33625713	33625713	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:33625713C>T	uc021ywr.1	+	3	511	c.287C>T	c.(286-288)gCg>gTg	p.A96V		NM_002224	NP_002215	Q14573	ITPR3_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 3 (ITPR3), mRNA.	96					G-protein coupled receptor protein signaling pathway|activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						GTGCAGCATGCGGCGCAGATG	0.562000														9			5		0	0	0.000602	0	0
JPH1	56704	broad.mit.edu	37	8	75156789	75156789	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:75156789G>A	uc003yae.3	-	3	1920	c.1880C>T	c.(1879-1881)cCt>cTt	p.P627L	JPH1_uc003yaf.3_Missense_Mutation_p.P627L|JPH1_uc003yag.1_Missense_Mutation_p.P491L	NM_020647	NP_065698	Q9HDC5	JPH1_HUMAN	Homo sapiens junctophilin 1 (JPH1), mRNA.	627					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane				endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)			TTCCAAAGCAGGGCATGAATC	0.433000														71			24		0	0	0.002780	0	0
OR2M7	391196	broad.mit.edu	37	1	248487623	248487623	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:248487623A>G	uc010pzk.2	-	0	248	c.248T>C	c.(247-249)tTc>tCc	p.F83S		NM_001004691	NP_001004691	Q8NG81	OR2M7_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 7 (OR2M7), mRNA.	83					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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)			CAAGTAGTTGAAGGCCATCTT	0.498000														145			66		0	0	0.003610	0	0
ABCA9	10350	broad.mit.edu	37	17	67029972	67029972	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:67029972C>T	uc002jhu.3	-	8	1314	c.1171G>A	c.(1171-1173)Gat>Aat	p.D391N	ABCA9_uc010dez.3_Missense_Mutation_p.D391N	NM_080283	NP_525022	Q8IUA7	ABCA9_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 9 (ABCA9), mRNA.	391					transport	integral to membrane	ATP binding|ATPase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					TGTGAAGAATCCAAGTGGGCA	0.284000														124			62		0	0	0.003610	0	0
FAM22A	728118	broad.mit.edu	37	10	88988218	88988218	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:88988218G>A	uc001kek.3	+	1	964	c.581G>A	c.(580-582)gGc>gAc	p.G194D	LOC728190_uc009xtc.2_Intron|LOC728190_uc009xtd.2_Intron	NM_001099338	NP_001092808	Q8IVF1	FA22A_HUMAN	Homo sapiens family with sequence similarity 22, member A (FAM22A), mRNA.	194																	GATGGCTGCGGCCCGAGTGGG	0.662000			T	YWHAE	edometrial stromal sarcoma									67			11		0	0	0.007413	0	0
ARMCX1	51309	broad.mit.edu	37	X	100808124	100808124	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chrX:100808124C>T	uc022cak.1	+	0	211	c.211C>T	c.(211-213)Cag>Tag	p.Q71*	ARMCX1_uc004ehv.3_Nonsense_Mutation_p.Q71*|ARMCX1_uc004ehw.3_Nonsense_Mutation_p.Q71*	NM_016608	NP_057692	Q9P291	ARMX1_HUMAN	Homo sapiens armadillo repeat containing, X-linked 1 (ARMCX1), mRNA.	71						integral to membrane	binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(2)|ovary(3)|pancreas(1)|urinary_tract(1)	19						GGCCAAACTTCAGGGTGATTC	0.557000														6			12		0	0	0.001368	0	0
PLEKHG1	57480	broad.mit.edu	37	6	151161257	151161257	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:151161257C>T	uc011eem.1	+	15	3648	c.3560C>T	c.(3559-3561)tCt>tTt	p.S1187F	PLEKHG1_uc003qny.1_Missense_Mutation_p.S1128F	NM_001029884	NP_001025055	Q9ULL1	PKHG1_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 1 (PLEKHG1), mRNA.	1128					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		GCAGCTTGCTCTGTGCCTTCT	0.502000														51			17		0	0	0.007413	0	0
TCEAL6	158931	broad.mit.edu	37	X	101396221	101396221	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chrX:101396221C>T	uc022cas.1	-	0	83	c.83G>A	c.(82-84)gGa>gAa	p.G28E	TCEAL6_uc004eiq.3_Missense_Mutation_p.G28E	NM_001006938	NP_001006939	Q6IPX3	TCAL6_HUMAN	Homo sapiens transcription elongation factor A (SII)-like 6 (TCEAL6), mRNA.	28	Glu-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	14						gtctgactttccttcatcatc	0.473000														3			6		0	0	0.001168	0	0
PDZD3	79849	broad.mit.edu	37	11	119056947	119056947	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:119056947C>T	uc001pwb.3	+	1	600	c.76C>T	c.(76-78)Ctt>Ttt	p.L26F	PDZD3_uc001pvz.3_Intron|PDZD3_uc010rzd.2_Missense_Mutation_p.L26F|PDZD3_uc001pvy.3_Intron|PDZD3_uc001pwa.3_Intron			Q86UT5	NHRF4_HUMAN	Homo sapiens PDZ domain containing 3 (PDZD3), transcript variant 3, non-coding RNA.	26					cGMP-mediated signaling|ion transport|negative regulation of cGMP biosynthetic process|response to toxin|water transport	apical part of cell|brush border|cytosol|membrane fraction|subapical complex	guanylate cyclase inhibitor activity|ion channel inhibitor activity|protein C-terminus binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)	14	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;7.52e-05)		CTCCGATCTCCTTGGTAACCA	0.607000														14			14		0	0	0.001855	0	0
MIR296	407022	broad.mit.edu	37	20	57392737	57392737	+	RNA	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr20:57392737C>T	uc002xzr.1	-	0		c.13G>A								Homo sapiens microRNA 296 (MIR296), microRNA.																		GGGGGGCCCTCTGGAAGGGTC	0.587000														18			15		0	0	0.004007	0	0
ZBTB7A	51341	broad.mit.edu	37	19	4055191	4055191	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:4055191G>A	uc002lzh.3	-	1	115	c.40C>T	c.(40-42)Ccc>Tcc	p.P14S	ZBTB7A_uc002lzi.3_Missense_Mutation_p.P14S	NM_015898	NP_056982	O95365	ZBT7A_HUMAN	Homo sapiens zinc finger and BTB domain containing 7A (ZBTB7A), mRNA.	14					cell differentiation|multicellular organismal development|transcription, DNA-dependent	nucleus	DNA binding|histone acetyltransferase binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	14		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.014)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGTGGTCGGGGAACGGGATC	0.706000														5			3		0	0	0.000248	0	0
SYNE2	23224	broad.mit.edu	37	14	64453314	64453314	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:64453314C>T	uc001xgl.3	+	18	2522	c.2292C>T	c.(2290-2292)acC>acT	p.T764T	SYNE2_uc001xgm.3_Silent_p.T764T|SYNE2_uc021ruh.1_Silent_p.T764T	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA.	764					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)		ATGTGGACACCTCAATGGAAG	0.353000														68			27		0	0	0.008361	0	0
RP1	6101	broad.mit.edu	37	8	55541654	55541654	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:55541654G>A	uc003xsd.1	+	3	5360	c.5212G>A	c.(5212-5214)Gga>Aga	p.G1738R	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	1738					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)			CATAGAGGAAGGAGTACTGAT	0.413000														27			14		0	0	0.002450	0	0
GRIN2C	2905	broad.mit.edu	37	17	72846716	72846716	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:72846716C>T	uc002jlt.1	-	4	1460	c.1304G>A	c.(1303-1305)aGg>aAg	p.R435K	GRIN2C_uc010wrh.1_Non-coding_Transcript|GRIN2C_uc002jlu.1_Missense_Mutation_p.R435K|GRIN2C_uc002jlv.1_3'UTR	NM_000835	NP_000826	Q14957	NMDE3_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2C (GRIN2C), mRNA.	435					glutamate signaling pathway	cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	33	all_lung(278;0.172)|Lung NSC(278;0.207)				Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)	GTTGCTCTGCCTGCGGCAGGG	0.637000														57			17		0	0	0.001882	0	0
RBM47	54502	broad.mit.edu	37	4	40427944	40427944	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:40427944G>A	uc003gvc.2	-	6	2469	c.1759C>T	c.(1759-1761)Ccc>Tcc	p.P587S	RBM47_uc003gvd.2_Missense_Mutation_p.P518S|RBM47_uc003gve.2_Non-coding_Transcript|RBM47_uc011bys.1_Missense_Mutation_p.P549S	NM_001098634	NP_001092104	A0AV96	RBM47_HUMAN	Homo sapiens RNA binding motif protein 47 (RBM47), transcript variant 1, mRNA.	587						nucleus	RNA binding|nucleotide binding			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						TAGACGTCGGGGATGGGGACC	0.552000														50			18		0	0	0.008871	0	0
AGAP11	119385	broad.mit.edu	37	10	88769011	88769011	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:88769011C>T	uc001kee.2	+	11	2206	c.1002C>T	c.(1000-1002)atC>atT	p.I334I	AGAP11_uc001kef.3_Intron	NM_133447	NP_597704	Q8TF27	AGA11_HUMAN	Homo sapiens ankyrin repeat and GTPase domain Arf GTPase activating protein 11 (AGAP11), mRNA.	334	Arf-GAP.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding										TGCAGTCGATCCAAAACATGC	0.552000														113			65		0	0	0.003610	0	0
OR2F2	135948	broad.mit.edu	37	7	143632869	143632869	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:143632869C>T	uc011ktv.2	+	0	544	c.544C>T	c.(544-546)Cta>Tta	p.L182L		NM_001004685	NP_001004685	O95006	OR2F2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily F, member 2 (OR2F2), mRNA.	182					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)					CTGTGAACTCCTAGCTGTGGT	0.498000														44			15		0	0	0.004007	0	0
OR8B8	26493	broad.mit.edu	37	11	124310205	124310205	+	Nonsense_Mutation	SNP	G	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:124310205G>T	uc010sal.2	-	0	777	c.777C>A	c.(775-777)taC>taA	p.Y259*		NM_012378	NP_036510	Q15620	OR8B8_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily B, member 8 (OR8B8), mRNA.	259					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		AGGGTTTGAGGTACATGAATG	0.473000														44			22		1.96292e-10	2.37598e-10	0.001523	1	0
SPC25	57405	broad.mit.edu	37	2	169728044	169728044	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:169728044A>G	uc002uel.3	-	6	703	c.572T>C	c.(571-573)cTt>cCt	p.L191P		NM_020675	NP_065726	Q9HBM1	SPC25_HUMAN	Homo sapiens SPC25, NDC80 kinetochore complex component, homolog (S. cerevisiae) (SPC25), mRNA.	191	Interaction with the C-terminus of SPBC24.				cell division|chromosome segregation|mitotic prometaphase|mitotic spindle organization	Ndc80 complex|condensed chromosome kinetochore|cytosol|nucleus	protein binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1)	9						TAGGCCCTCAAGATGAGGGGC	0.348000														74			36		0	0	0.005524	0	0
GOLT1B	51026	broad.mit.edu	37	12	21661471	21661471	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:21661471T>G	uc001rez.2	+	2	431	c.272T>G	c.(271-273)aTt>aGt	p.I91S	GOLT1B_uc009zis.2_Non-coding_Transcript|GOLT1B_uc009zit.2_Non-coding_Transcript|GOLT1B_uc009ziu.2_Intron	NM_016072	NP_057156	Q9Y3E0	GOT1B_HUMAN	Homo sapiens golgi transport 1B (GOLT1B), mRNA.	91	Phe-rich.				positive regulation of I-kappaB kinase/NF-kappaB cascade|protein transport|vesicle-mediated transport	Golgi membrane|endoplasmic reticulum|integral to membrane	signal transducer activity			large_intestine(2)|lung(3)	5						ATCTTCGAAATTTATGGATTT	0.338000														65			21		0	0	0.002299	0	0
OTOP3	347741	broad.mit.edu	37	17	72938000	72938000	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:72938000C>T	uc010wrr.2	+	2	495	c.495C>T	c.(493-495)tcC>tcT	p.S165S	OTOP3_uc010wrq.2_Silent_p.S147S	NM_178233	NP_839947	Q7RTS5	OTOP3_HUMAN	Homo sapiens otopetrin 3 (OTOP3), mRNA.	165						integral to membrane|intracellular	zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_lung(278;0.151)|Lung NSC(278;0.185)					GGCCAGGTTCCCTAGTGCTCT	0.647000														9			5		0	0	0.001168	0	0
EIF3F	8665	broad.mit.edu	37	11	8013684	8013684	+	Silent	SNP	T	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:8013684T>A	uc001mfw.3	+	2	944	c.489T>A	c.(487-489)gtT>gtA	p.V163V	EIF3F_uc010rbj.2_Silent_p.V14V	NM_003754	NP_003745	O00303	EIF3F_HUMAN	Homo sapiens eukaryotic translation initiation factor 3, subunit F (EIF3F), mRNA.	163	MPN.					cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|skin(1)	13				Epithelial(150;1.44e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		ATAAAAAAGTTTCTCCAAATG	0.473000														28			9		0	0	0.008291	0	0
DCDC1	341019	broad.mit.edu	37	11	31312262	31312262	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:31312262G>A	uc001msv.3	-	6	1130	c.892C>T	c.(892-894)Ctg>Ttg	p.L298L	DCDC5_uc001msu.2_Intron	NM_181807	NP_861523	P59894	DCDC1_HUMAN	Homo sapiens doublecortin domain containing 1 (DCDC1), mRNA.	298					intracellular signal transduction					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					TTAAAGAACAGAATTCGGACT	0.363000														53			23		0	0	0.003954	0	0
MYH9	4627	broad.mit.edu	37	22	36700082	36700082	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr22:36700082G>A	uc003apg.3	-	18	2580	c.2349C>T	c.(2347-2349)atC>atT	p.I783I	MYH9_uc003aph.1_Silent_p.I647I	NM_002473	NP_002464	P35579	MYH9_HUMAN	Homo sapiens myosin, heavy chain 9, non-muscle (MYH9), mRNA.	783	IQ.				actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	ADP binding|ATP binding|actin filament binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						GGAACCCTATGATGACGTCGG	0.617000			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated					32			6		0	0	0.003080	0	0
LRRC18	474354	broad.mit.edu	37	10	50122012	50122012	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:50122012C>T	uc001jhd.3	-	0	269	c.189G>A	c.(187-189)agG>agA	p.R63R	WDFY4_uc001jha.4_Intron|LRRC18_uc001jhe.1_Silent_p.R63R	NM_001006939	NP_001006940	Q8N456	LRC18_HUMAN	Homo sapiens leucine rich repeat containing 18 (LRRC18), mRNA.	63						cytoplasm				NS(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						CAGGGATCTTCCTGATAAGAT	0.527000														36			9		0	0	0.001368	0	0
OR2T4	127074	broad.mit.edu	37	1	248525490	248525490	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:248525490C>T	uc001ieh.1	+	0	608	c.608C>T	c.(607-609)tCc>tTc	p.S203F		NM_001004696	NP_001004696	Q8NH00	OR2T4_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 4 (OR2T4), mRNA.	203					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	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)			TTCCGTGGATCCCGGGAGATT	0.498000														95			30		0	0	0.008361	0	0
DLGAP2	9228	broad.mit.edu	37	8	1497183	1497183	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:1497183C>T	uc003wpl.3	+	1	421	c.324C>T	c.(322-324)atC>atT	p.I108I	DLGAP2_uc003wpm.3_Silent_p.I108I	NM_004745	NP_004736	Q9P1A6	DLGP2_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 2 (DLGAP2), mRNA.	187					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding			breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		TCAACCGCATCCCGGCCAACC	0.682000														9			4		0	0	0.000248	0	0
MIOX	55586	broad.mit.edu	37	22	50926416	50926416	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr22:50926416C>T	uc003bll.1	+	3	393	c.279C>T	c.(277-279)ttC>ttT	p.F93F	MIOX_uc003blm.1_Silent_p.F93F|MIOX_uc003bln.1_Silent_p.F93F	NM_017584	NP_060054	Q9UGB7	MIOX_HUMAN	Homo sapiens myo-inositol oxygenase (MIOX), mRNA.	93					inositol catabolic process	cytoplasm|inclusion body	aldo-keto reductase (NADP) activity|ferric iron binding|inositol oxygenase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	13		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		ACGTAGATTTCCCCAACTCCT	0.617000														27			17		0	0	0.007413	0	0
ANKRD36B	57730	broad.mit.edu	37	2	98175306	98175306	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:98175306G>A	uc010yvc.1	-	9	1203	c.923C>T	c.(922-924)tCa>tTa	p.S308L	ANKRD36B_uc010yve.1_Non-coding_Transcript|ANKRD36B_uc010fif.2_Non-coding_Transcript	NM_025190	NP_079466	Q8N2N9	AN36B_HUMAN	Homo sapiens ankyrin repeat domain 36B (ANKRD36B), mRNA.	308																	GGCTATATTTGAAACAGAATC	0.333000														40			12		0	0	0.004007	0	0
SEMA4D	10507	broad.mit.edu	37	9	92008487	92008487	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:92008487G>A	uc004aqo.1	-	8	1070	c.498C>T	c.(496-498)tcC>tcT	p.S166S	SEMA4D_uc011ltm.1_Silent_p.S166S|SEMA4D_uc011ltn.1_Non-coding_Transcript|SEMA4D_uc011lto.1_Non-coding_Transcript|SEMA4D_uc004aqp.1_Silent_p.S166S	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.	166	Sema.				anti-apoptosis|axon guidance|cell adhesion|immune response	integral to membrane|plasma membrane	receptor activity|receptor binding	p.S166S(2)|p.S166F(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(8)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34						CAACCATGACGGATGTGTAGC	0.423000														48			21		0	0	0.002299	0	0
SULT1B1	27284	broad.mit.edu	37	4	70620879	70620879	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:70620879G>A	uc003hen.3	-	1	355	c.57C>T	c.(55-57)ccC>ccT	p.P19P		NM_014465	NP_055280	O43704	ST1B1_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 1B, member 1 (SULT1B1), mRNA.	19					3'-phosphoadenosine 5'-phosphosulfate metabolic process|cellular biogenic amine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|thyroid hormone metabolic process|xenobiotic metabolic process	cytosol				breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(14)|prostate(1)|upper_aerodigestive_tract(1)	24						CACAGGTCATGGGATAACCAT	0.373000														65			35		0	0	0.003271	0	0
UBR1	197131	broad.mit.edu	37	15	43318759	43318759	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:43318759C>T	uc001zqq.3	-	23	2601	c.2535_splice	c.e23+1	p.K845_splice	UBR1_uc010udk.1_Splice_Site_p.K845_splice	NM_174916	NP_777576	Q8IWV7	UBR1_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 1 (UBR1), mRNA.	845					cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding			NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		TTTTTTCTACCTTGCTATGCT	0.338000														81			13		0	0	0.001368	0	0
OR4C12	283093	broad.mit.edu	37	11	50003455	50003455	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:50003455G>A	uc010ria.2	-	0	617	c.583C>T	c.(583-585)Ctc>Ttc	p.L195F		NM_001005270	NP_001005270	Q96R67	OR4CC_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 12 (OR4C12), mRNA.	195					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G194C(1)		NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	36						GCAACAAAGAGACCAAGGGTA	0.408000														52			25		0	0	0.003954	0	0
RYR3	6263	broad.mit.edu	37	15	34150115	34150115	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:34150115G>A	uc001zhi.3	+	99	14212	c.14142_splice	c.e99+1	p.T4714_splice	RYR3_uc010bar.3_Splice_Site_p.T4709_splice	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	4714					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)		ACATGATGACGGTGAGAGCCC	0.577000														5			5		0	0	0.001168	0	0
PDYN	5173	broad.mit.edu	37	20	1961245	1961245	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr20:1961245G>A	uc010gaj.3	-	2	731	c.489C>T	c.(487-489)ctC>ctT	p.L163L	AK090681_uc002wfu.1_Intron|PDYN_uc021vzs.1_Silent_p.L163L|PDYN_uc021vzt.1_Silent_p.L163L|PDYN_uc021vzu.1_Silent_p.L163L|PDYN_uc002wfv.3_Silent_p.L163L	NM_001190892	NP_077722	P01213	PDYN_HUMAN	Homo sapiens prodynorphin (PDYN), transcript variant 3, mRNA.	163					cell death|neuropeptide signaling pathway|synaptic transmission	extracellular region|plasma membrane	opioid peptide activity	p.Y162N(1)|p.L163F(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CCTCCTCAGCGAGATAGAGTG	0.592000														60			27		0	0	0.008361	0	0
MAGEC1	9947	broad.mit.edu	37	X	140995859	140995859	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chrX:140995859C>T	uc004fbt.3	+	3	2993	c.2669C>T	c.(2668-2670)tCc>tTc	p.S890F	MAGEC1_uc010nsl.2_Intron|MAGEC1_uc022cfi.1_Missense_Mutation_p.S549F	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	890							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)					GAGAGTGATTCCTTGACAGAC	0.478000										HNSCC(15;0.026)				57			79		0	0	0.003610	0	0
TLE4	7091	broad.mit.edu	37	9	82333708	82333708	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:82333708G>A	uc004ald.3	+	15	2336	c.1487G>A	c.(1486-1488)gGa>gAa	p.G496E	TLE4_uc004alc.3_Missense_Mutation_p.G471E|TLE4_uc010mpr.3_Missense_Mutation_p.G350E|TLE4_uc004ale.3_Missense_Mutation_p.G108E|TLE4_uc011lsq.2_Missense_Mutation_p.G439E|TLE4_uc010mps.3_Missense_Mutation_p.G395E|TLE4_uc004alf.3_Missense_Mutation_p.G410E	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						GCCCTCATCGGACCTGGAATC	0.572000														44			20		0	0	0.001882	0	0
OTX1	5013	broad.mit.edu	37	2	63282651	63282651	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:63282651C>T	uc021vim.1	+	4	541	c.265C>T	c.(265-267)Cgc>Tgc	p.R89C	OTX1_uc002scd.3_Missense_Mutation_p.R89C|OTX1_uc010ypt.2_Missense_Mutation_p.R23C	NM_001199770	NP_001186699	P32242	OTX1_HUMAN	Homo sapiens orthodenticle homeobox 1 (OTX1), transcript variant 2, mRNA.	89						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Lung NSC(7;0.121)|all_lung(7;0.211)					GTTCAAGAACCGCCGCGCCAA	0.667000														15			8		0	0	0.006214	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140183120	140183120	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:140183120C>T	uc003lhf.2	+	0	2338	c.2338C>T	c.(2338-2340)Cca>Tca	p.P780S	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc011czy.2_Intron|PCDHAC2_uc011czz.2_Missense_Mutation_p.P780S	NM_018906	NP_061729	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 3 (PCDHA3), transcript variant 1, mRNA.	755					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)			TCCTCCTTGTCCAATTAGCCG	0.483000														64			26		0	0	0.003954	0	0
IGSF1	3547	broad.mit.edu	37	X	130409619	130409619	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chrX:130409619C>T	uc004ewe.4	-	15	3315	c.3032G>A	c.(3031-3033)gGa>gAa	p.G1011E	IGSF1_uc004ewd.3_Missense_Mutation_p.G1006E|IGSF1_uc022cdv.1_Missense_Mutation_p.G997E|IGSF1_uc004ewf.2_Missense_Mutation_p.G986E	NM_001170961	NP_001164432	Q8N6C5	IGSF1_HUMAN	Homo sapiens immunoglobulin superfamily, member 1 (IGSF1), transcript variant 3, mRNA.	1006	Ig-like C2-type 10.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						AGTGGCTTCTCCTTCTTTGTG	0.532000														21			23		0	0	0.001882	0	0
TMEM168	64418	broad.mit.edu	37	7	112424755	112424755	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:112424755G>C	uc003vgn.3	-	1	518	c.126C>G	c.(124-126)atC>atG	p.I42M	TMEM168_uc010lju.3_Missense_Mutation_p.I42M|TMEM168_uc011kmr.2_Intron	NM_022484	NP_071929	Q9H0V1	TM168_HUMAN	Homo sapiens transmembrane protein 168 (TMEM168), mRNA.	42						integral to membrane|transport vesicle				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|stomach(1)	32						CCAATAAATTGATTCTGGCTA	0.333000														35			20		0	0	0.001523	0	0
WDR59	79726	broad.mit.edu	37	16	74919580	74919580	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:74919580G>A	uc002fdh.1	-	24	2762	c.2660C>T	c.(2659-2661)tCc>tTc	p.S887F	WDR59_uc002fdf.1_Missense_Mutation_p.S332F|WDR59_uc002fdg.1_Missense_Mutation_p.S479F	NM_030581	NP_085058	Q6PJI9	WDR59_HUMAN	Homo sapiens WD repeat domain 59 (WDR59), mRNA.	887										breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						AGGAGGACAGGAGACAAACTT	0.448000														52			15		0	0	0.004990	0	0
UNC13B	10497	broad.mit.edu	37	9	35380572	35380573	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:35380572_35380573CC>TT	uc003zwr.3	+	16	2356_2357	c.2064_2065CC>TT	c.(2062-2067)ttcctt>ttTTtt	p.L689F	UNC13B_uc003zwq.3_Missense_Mutation_p.L689F	NM_006377	NP_006368	O14795	UN13B_HUMAN	Homo sapiens unc-13 homolog B (C. elegans) (UNC13B), mRNA.	689	C2 2.				excretion|induction of apoptosis|intracellular signal transduction	Golgi apparatus|cell junction|synapse	metal ion binding|receptor activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			CTGATGATTTCCTTGGCCAAAC	0.505000														51			36		0	0	0.004672	0	0
CREBBP	1387	broad.mit.edu	37	16	3900527	3900527	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:3900527T>A	uc002cvv.3	-	1	773	c.569A>T	c.(568-570)aAt>aTt	p.N190I	CREBBP_uc002cvw.3_Missense_Mutation_p.N190I	NM_004380	NP_004371	Q92793	CBP_HUMAN	Homo sapiens CREB binding protein (CREBBP), transcript variant 1, mRNA.	190					N-terminal peptidyl-lysine acetylation|cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	MyoD binding|histone acetyltransferase activity|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	p.N190fs*8(1)		NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		AGAGTTACTATTGAGGAGGCC	0.542000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome							45			16		0	0	0.006122	0	0
RASD1	51655	broad.mit.edu	37	17	17398471	17398471	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:17398471C>T	uc002gri.3	-	1	1028	c.814G>A	c.(814-816)Gcc>Acc	p.A272T	RASD1_uc021trg.1_3'UTR	NM_016084	NP_057168	Q9Y272	RASD1_HUMAN	Homo sapiens RAS, dexamethasone-induced 1 (RASD1), transcript variant 1, mRNA.	272					G-protein coupled receptor protein signaling pathway|small GTPase mediated signal transduction	nucleus|perinuclear region of cytoplasm|plasma membrane	GTP binding|GTPase activity			endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	4						TTGTCCTTGGCCTGGCTGCCG	0.652000														25			7		0	0	0.003080	0	0
SORCS3	22986	broad.mit.edu	37	10	106960951	106960951	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:106960951G>A	uc001kyi.1	+	15	2428	c.2201G>A	c.(2200-2202)cGa>cAa	p.R734Q	SORCS3_uc010qqz.1_Non-coding_Transcript	NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 3 (SORCS3), mRNA.	734						integral to membrane	neuropeptide receptor activity	p.R734Q(2)		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)		GCCCTGGGCCGAGACCACTCA	0.488000														50			23		0	0	0.003954	0	0
CHD6	84181	broad.mit.edu	37	20	40162107	40162107	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr20:40162107C>T	uc002xka.1	-	2	314	c.136G>A	c.(136-138)Gag>Aag	p.E46K	CHD6_uc002xkd.2_Missense_Mutation_p.E24K|CHD6_uc002xkc.3_Missense_Mutation_p.E81K	NM_032221	NP_115597	Q8TD26	CHD6_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 6 (CHD6), mRNA.	46					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|chromatin binding	p.E45K(1)		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)				TCAATTTTCTCTTCTTGATCA	0.418000														90			34		0	0	0.003271	0	0
PTPRN2	5799	broad.mit.edu	37	7	157926726	157926726	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:157926726C>T	uc003wno.3	-	8	1320	c.1199G>A	c.(1198-1200)gGg>gAg	p.G400E	PTPRN2_uc003wnp.3_Missense_Mutation_p.G383E|PTPRN2_uc003wnq.3_Missense_Mutation_p.G400E|PTPRN2_uc003wnr.3_Missense_Mutation_p.G362E|PTPRN2_uc011kwa.2_Missense_Mutation_p.G423E	NM_002847	NP_002838	Q92932	PTPR2_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, N polypeptide 2 (PTPRN2), transcript variant 1, mRNA.	400						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)		CAGGAGGCCCCCGAGTGTGGC	0.597000														24			18		0	0	0.006122	0	0
BC101079	0	broad.mit.edu	37	15	102291902	102291902	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:102291902C>T	uc010usj.2	+	2	269	c.210C>T	c.(208-210)acC>acT	p.T70T	DQ593624_uc002bxp.4_5'Flank|DQ576888_uc021sxy.1_5'Flank|DQ596486_uc002bxz.4_5'Flank|DQ582294_uc021syc.1_5'Flank|DQ595661_uc021sye.1_5'Flank|DQ588439_uc002byd.3_5'Flank|DQ593353_uc002bye.3_5'Flank					Homo sapiens cDNA clone IMAGE:40009338.																		AGCCCAAGACCATCATGCACA	0.577000														17			14		0	0	0.003163	0	0
FAM135B	51059	broad.mit.edu	37	8	139163683	139163683	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:139163683G>A	uc003yuy.3	-	12	3206	c.3035C>T	c.(3034-3036)tCc>tTc	p.S1012F	FAM135B_uc003yux.3_Missense_Mutation_p.S913F|FAM135B_uc003yuz.3_Non-coding_Transcript|FAM135B_uc003yva.3_Missense_Mutation_p.S574F|FAM135B_uc003yvb.3_Missense_Mutation_p.S574F	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA.	1012								p.G1011G(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)			AGTCAGATGGGACCCCATGAT	0.507000										HNSCC(54;0.14)				22			9		0	0	0.008291	0	0
FAM135B	51059	broad.mit.edu	37	8	139160820	139160820	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:139160820C>T	uc003yuy.3	-	13	3562	c.3391G>A	c.(3391-3393)Gag>Aag	p.E1131K	FAM135B_uc003yux.3_Missense_Mutation_p.E1032K|FAM135B_uc003yuz.3_Non-coding_Transcript|FAM135B_uc003yva.3_Missense_Mutation_p.E693K|FAM135B_uc003yvb.3_Missense_Mutation_p.R658K	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA.	1131								p.E1131K(3)		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)			TTTTCTTCCTCTTCCTCTGGT	0.373000										HNSCC(54;0.14)				30			7		0	0	0.003080	0	0
CCDC135	84229	broad.mit.edu	37	16	57731954	57731954	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:57731954G>A	uc002emi.3	+	1	182	c.93G>A	c.(91-93)atG>atA	p.M31I	CCDC135_uc002emj.3_Missense_Mutation_p.M31I|CCDC135_uc002emk.3_Missense_Mutation_p.M31I	NM_032269	NP_115645	Q8IY82	CC135_HUMAN	Homo sapiens coiled-coil domain containing 135 (CCDC135), mRNA.	31						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						TGGAGAAAATGATGAGGCCAG	0.582000														11			7		0	0	0.001984	0	0
PSG7	5676	broad.mit.edu	37	19	43429979	43429979	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:43429979G>A	uc002ovl.4	-	5	1288	c.1186C>T	c.(1186-1188)Cgt>Tgt	p.R396C	PSG3_uc002ouf.3_Intron|PSG4_uc010xwk.1_Intron|PSG7_uc010xwl.2_Missense_Mutation_p.R275C	NM_002783	NP_002774	Q13046	PSG7_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene) (PSG7), transcript variant 1, mRNA.	397	Ig-like C2-type 3.				female pregnancy	extracellular region							Prostate(69;0.00682)				GCTGAGTTACGAACAGAGCAA	0.468000														125			56		0	0	0.003610	0	0
ADAM7	8756	broad.mit.edu	37	8	24344783	24344783	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:24344783C>T	uc003xeb.3	+	10	1157	c.1044C>T	c.(1042-1044)ttC>ttT	p.F348F	ADAM7_uc003xec.3_Silent_p.F120F	NM_003817	NP_003808	Q9H2U9	ADAM7_HUMAN	Homo sapiens ADAM metallopeptidase domain 7 (ADAM7), mRNA.	348	Peptidase M12B.				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)		ATGACGAGTTCCCATGCACCT	0.428000														27			11		0	0	0.001368	0	0
GMFG	9535	broad.mit.edu	37	19	39823752	39823752	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:39823752C>T	uc002okz.4	-	3	275	c.165G>A	c.(163-165)gaG>gaA	p.E55E	GMFG_uc002okx.4_Silent_p.E55E	NM_004877	NP_004868	O60234	GMFG_HUMAN	Homo sapiens glia maturation factor, gamma (GMFG), mRNA.	55	ADF-H.				protein phosphorylation	intracellular	actin binding|enzyme activator activity|growth factor activity|protein kinase inhibitor activity			breast(1)|large_intestine(2)|liver(2)|lung(3)|skin(1)|stomach(1)	10	all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.15e-27)|all cancers(26;1.3e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			TTTTGAGCTCCTCTGGGGAAA	0.542000														33			12		0	0	0.003163	0	0
ZNF876P	642280	broad.mit.edu	37	4	248200	248200	+	RNA	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:248200C>T	uc010iba.3	+	1		c.1034C>T								Homo sapiens zinc finger protein 876, pseudogene (ZNF876P), non-coding RNA.																		CAAGAGAATTCATACTGGTGA	0.363000														31			5		0	0	0.000602	0	0
RSPH4A	345895	broad.mit.edu	37	6	116943957	116943958	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:116943957_116943958CC>TT	uc003pxe.2	+	1	858_859	c.713_714CC>TT	c.(712-714)acc>aTT	p.T238I	RSPH4A_uc010kee.2_Missense_Mutation_p.T238I	NM_001010892	NP_001010892	Q5TD94	RSH4A_HUMAN	Homo sapiens radial spoke head 4 homolog A (Chlamydomonas) (RSPH4A), transcript variant 1, mRNA.	238					cilium axoneme assembly|cilium movement	cytoplasm|cytoskeleton|radial spoke				breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						AATATGTTGACCAAGATATTAA	0.312000									Kartagener syndrome					100			30		0	0	0.004672	0	0
HIP1	3092	broad.mit.edu	37	7	75178288	75178288	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:75178288G>A	uc003uds.2	-	22	2352	c.2307C>T	c.(2305-2307)ccC>ccT	p.P769P	HIP1_uc011kfz.2_Silent_p.P769P	NM_005338	NP_005329	O00291	HIP1_HUMAN	Homo sapiens huntingtin interacting protein 1 (HIP1), transcript variant 1, mRNA.	769					activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi apparatus|clathrin coated vesicle membrane|cytoskeleton|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton			breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						CCAGTCCCCTGGGCAGGAGCT	0.567000			T	PDGFRB	CMML									81			25		0	0	0.003954	0	0
RYR2	6262	broad.mit.edu	37	1	237780633	237780633	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:237780633G>A	uc001hyl.1	+	37	5883	c.5763G>A	c.(5761-5763)cgG>cgA	p.R1921R		NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	1921	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TCCGGCACCGGATAGAAGCCA	0.413000														22			10		0	0	0.000978	0	0
CNTNAP1	8506	broad.mit.edu	37	17	40837272	40837272	+	Silent	SNP	C	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:40837272C>A	uc002iay.3	+	4	765	c.549C>A	c.(547-549)atC>atA	p.I183I	CNTNAP1_uc010wgs.2_Non-coding_Transcript	NM_003632	NP_003623	P78357	CNTP1_HUMAN	Homo sapiens contactin associated protein 1 (CNTNAP1), mRNA.	183					axon guidance|cell adhesion	paranode region of axon	SH3 domain binding|SH3/SH2 adaptor activity|receptor activity|receptor binding			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		ACGATGCCATCTCCTACCGCT	0.652000														40			17		2.37509e-13	2.88341e-13	0.001523	1	0
CYP7B1	9420	broad.mit.edu	37	8	65528446	65528446	+	Nonsense_Mutation	SNP	T	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:65528446T>A	uc003xvj.2	-	2	856	c.652A>T	c.(652-654)Aaa>Taa	p.K218*		NM_004820	NP_004811	O75881	CP7B1_HUMAN	Homo sapiens cytochrome P450, family 7, subfamily B, polypeptide 1 (CYP7B1), mRNA.	218					bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)				TCATCAAATTTTAAAAAATCA	0.284000														40			19		0	0	0.008871	0	0
NTSR2	23620	broad.mit.edu	37	2	11802205	11802205	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:11802205G>A	uc002rbq.4	-	1	860	c.786C>T	c.(784-786)ctC>ctT	p.L262L		NM_012344	NP_036476	O95665	NTR2_HUMAN	Homo sapiens neurotensin receptor 2 (NTSR2), mRNA.	262					sensory perception	integral to plasma membrane				breast(1)|large_intestine(7)|lung(7)|prostate(1)|urinary_tract(1)	17	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.129)|OV - Ovarian serous cystadenocarcinoma(76;0.24)	Levocabastine(DB01106)	TGAAGCTGAGGAGACCCTCCT	0.637000														69			23		0	0	0.003330	0	0
PRIC285	85441	broad.mit.edu	37	20	62203672	62203672	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr20:62203672G>A	uc002yfm.2	-	1	959	c.67C>T	c.(67-69)Cct>Tct	p.P23S	PRIC285_uc002yfn.2_Missense_Mutation_p.P23S	NM_001037335	NP_001032412	Q9BYK8	PR285_HUMAN	Homo sapiens peroxisomal proliferator-activated receptor A interacting complex 285 (PRIC285), transcript variant 1, mRNA.	23					cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|RNA binding|helicase activity|ribonuclease activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(4)|cervix(3)|endometrium(6)|kidney(3)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(4)|urinary_tract(2)	47	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)			TCGCCATCAGGGGCAGGGGGT	0.716000														8			9		0	0	0.006214	0	0
ZSWIM4	65249	broad.mit.edu	37	19	13923934	13923934	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:13923934C>T	uc002mxh.1	+	5	1325	c.1136C>T	c.(1135-1137)tCc>tTc	p.S379F	ZSWIM4_uc010xng.1_Missense_Mutation_p.S185F	NM_023072	NP_075560	Q9H7M6	ZSWM4_HUMAN	Homo sapiens zinc finger, SWIM-type containing 4 (ZSWIM4), mRNA.	379							zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)			GGCAACTACTCCTTCGACGGC	0.627000														16			4		0	0	0.000602	0	0
PNMA1	9240	broad.mit.edu	37	14	74179835	74179835	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:74179835G>A	uc001xor.1	-	0	1294	c.508C>T	c.(508-510)Cca>Tca	p.P170S		NM_006029	NP_006020	Q8ND90	PNMA1_HUMAN	Homo sapiens paraneoplastic antigen MA1 (PNMA1), mRNA.	170					apoptosis|central nervous system development|inflammatory response to antigenic stimulus|spermatogenesis	cytoplasm|focal adhesion|nucleolus	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|prostate(1)|urinary_tract(2)	13				BRCA - Breast invasive adenocarcinoma(234;0.00331)|KIRC - Kidney renal clear cell carcinoma(182;0.0797)		ccaggccctgggatgtccctc	0.502000														43			19		0	0	0.008871	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140772646	140772646	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:140772646G>A	uc003lkd.2	+	0	1164	c.266G>A	c.(265-267)aGg>aAg	p.R89K	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_uc003lkb.4_Missense_Mutation_p.R89K|PCDHGC5_uc003lkc.2_Intron	NM_032088	NP_114477	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 8 (PCDHGA8), transcript variant 1, mRNA.	89	Cadherin 1.				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)			ACCGCGGGCAGGATAGATCGG	0.562000														24			9		0	0	0.008291	0	0
EFEMP2	30008	broad.mit.edu	37	11	65637650	65637651	+	Missense_Mutation	DNP	GG	AT	AT			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:65637650_65637651GG>AT	uc001ofy.4	-	5	807_808	c.548_549CC>AT	c.(547-549)tcc>tAT	p.S183Y	EFEMP2_uc001ofz.3_Non-coding_Transcript	NM_016938	NP_058634	O95967	FBLN4_HUMAN	Homo sapiens EGF containing fibulin-like extracellular matrix protein 2 (EFEMP2), transcript variant 1, mRNA.	183	EGF-like 3; calcium-binding (Potential).				blood coagulation	basement membrane|membrane	calcium ion binding|extracellular matrix structural constituent|protein binding|transmembrane receptor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21				READ - Rectum adenocarcinoma(159;0.169)		GGCAGCGGAAGGAGCCAGGCAG	0.668000														59			21		0	0	0.004672	0	0
GIMAP8	155038	broad.mit.edu	37	7	150171526	150171526	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:150171526G>A	uc003whj.3	+	3	1439	c.1109G>A	c.(1108-1110)gGg>gAg	p.G370E		NM_175571	NP_783161	Q8ND71	GIMA8_HUMAN	Homo sapiens GTPase, IMAP family member 8 (GIMAP8), mRNA.	370						Golgi apparatus|endoplasmic reticulum|mitochondrion	GTP binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		GAAGATTTAGGGGATCAGGAT	0.388000														123			46		0	0	0.003610	0	0
SLC9A9	285195	broad.mit.edu	37	3	143186016	143186016	+	Silent	SNP	G	A	A	rs141105678		TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:143186016G>A	uc003evn.3	-	11	1541	c.1332C>T	c.(1330-1332)atC>atT	p.I444I		NM_173653	NP_775924	Q8IVB4	SL9A9_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 9 (SLC9A9), mRNA.	444					regulation of pH	integral to membrane|late endosome membrane|recycling endosome	sodium:hydrogen antiporter activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						AGGCAAATGCGATCGCTCCTC	0.428000														52			20		0	0	0.002299	0	0
SLC8A3	6547	broad.mit.edu	37	14	70634643	70634643	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:70634643C>T	uc001xly.3	-	1	1251	c.497G>A	c.(496-498)gGa>gAa	p.G166E	SLC8A3_uc001xlw.3_Missense_Mutation_p.G166E|SLC8A3_uc001xlx.3_Missense_Mutation_p.G166E|SLC8A3_uc001xlz.3_Missense_Mutation_p.G166E|SLC8A3_uc010ara.3_Non-coding_Transcript	NM_183002	NP_892114	P57103	NAC3_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 3 (SLC8A3), transcript variant c, mRNA.	166					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		GGTAGAAGGTCCCAGATCACC	0.502000														49			19		0	0	0.008871	0	0
SPTB	6710	broad.mit.edu	37	14	65262154	65262154	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:65262154C>T	uc001xht.3	-	10	1596	c.1545G>A	c.(1543-1545)gaG>gaA	p.E515E	SPTB_uc001xhr.3_Silent_p.E515E|SPTB_uc001xhs.3_Silent_p.E515E|SPTB_uc001xhu.3_Silent_p.E515E	NM_000347	NP_000338	P11277	SPTB1_HUMAN	Homo sapiens spectrin, beta, erythrocytic (SPTB), transcript variant 2, mRNA.	515					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		ACTGCAGCAGCTCCTGCAGGT	0.587000														41			17		0	0	0.004990	0	0
MYO6	4646	broad.mit.edu	37	6	76550387	76550387	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:76550387T>A	uc003pih.1	+	7	918	c.639T>A	c.(637-639)caT>caA	p.H213Q	MYO6_uc003pig.1_Missense_Mutation_p.H213Q|MYO6_uc003pii.1_Missense_Mutation_p.H213Q	NM_004999	NP_004990	Q9UM54	MYO6_HUMAN	Homo sapiens myosin VI (MYO6), mRNA.	213	Myosin head-like.				DNA damage response, signal transduction by p53 class mediator|actin filament-based movement|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission	DNA-directed RNA polymerase II, holoenzyme|Golgi apparatus|cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|filamentous actin|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex	ADP binding|ATP binding|actin filament binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		TAGAAATACATTTTAATGAAA	0.373000														27			19		0	0	0.006122	0	0
HAS1	3036	broad.mit.edu	37	19	52217264	52217264	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:52217264G>A	uc002pxn.1	-	3	1187	c.1174C>T	c.(1174-1176)Cgt>Tgt	p.R392C	HAS1_uc010epc.1_5'UTR|HAS1_uc010epd.1_3'UTR|HAS1_uc002pxo.1_Missense_Mutation_p.R385C|HAS1_uc002pxp.1_Missense_Mutation_p.R384C	NM_001523	NP_001514	Q92839	HAS1_HUMAN	Homo sapiens hyaluronan synthase 1 (HAS1), mRNA.	385					cell adhesion	integral to plasma membrane	hyaluronan synthase activity|protein binding			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	40		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		AGCCACTCACGGAAGTACGAC	0.652000														26			7		0	0	0.001984	0	0
CENPF	1063	broad.mit.edu	37	1	214818204	214818205	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:214818204_214818205GG>AA	uc001hkm.3	+	12	5465_5466	c.5291_5292GG>AA	c.(5290-5292)ggg>gAA	p.G1764E		NM_016343	NP_057427	P49454	CENPF_HUMAN	Homo sapiens centromere protein F, 350/400kDa (mitosin) (CENPF), mRNA.	1860					DNA replication|G2 phase of mitotic cell cycle|cell differentiation|cell division|cell proliferation|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		GATTTCCTGGGGAATCAGGAAG	0.411000														36			12		0	0	0.004672	0	0
ATP6AP1	537	broad.mit.edu	37	X	153664093	153664093	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chrX:153664093C>T	uc004flf.1	+	9	1330	c.1269C>T	c.(1267-1269)tcC>tcT	p.S423S	ATP6AP1_uc004flg.1_Non-coding_Transcript|ATP6AP1_uc004flh.1_Silent_p.S383S|GDI1_uc011mzo.1_5'Flank|GDI1_uc004fli.4_5'Flank	NM_001183	NP_001174	Q15904	VAS1_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal accessory protein 1 (ATP6AP1), mRNA.	423					ATP hydrolysis coupled proton transport	integral to membrane|proton-transporting V-type ATPase, V1 domain|vacuolar membrane	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(5)	14	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-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)					GCTTCTTCTCCCCCGGCATCT	0.567000														36			83		0	0	0.003610	0	0
PSMD1	5707	broad.mit.edu	37	2	232030645	232030645	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:232030645T>G	uc002vrn.2	+	22	2791	c.2629T>G	c.(2629-2631)Tta>Gta	p.L877V	PSMD1_uc002vrm.2_Missense_Mutation_p.L846V|PSMD1_uc010fxu.2_Missense_Mutation_p.L741V	NM_002807	NP_002798	Q99460	PSMD1_HUMAN	Homo sapiens proteasome (prosome, macropain) 26S subunit, non-ATPase, 1 (PSMD1), transcript variant 1, mRNA.	877					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)	31		Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168)	Bortezomib(DB00188)	AAACTTCCAGTTATTGGATAA	0.408000														55			38		0	0	0.004289	0	0
BEST3	144453	broad.mit.edu	37	12	70049395	70049395	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:70049395C>T	uc001svg.3	-	9	1526	c.1299G>A	c.(1297-1299)agG>agA	p.R433R	BEST3_uc001svd.2_Intron|BEST3_uc001svf.3_Silent_p.R220R|BEST3_uc010stm.2_Silent_p.R327R	NM_032735	NP_116124	Q8N1M1	BEST3_HUMAN	Homo sapiens bestrophin 3 (BEST3), transcript variant 1, mRNA.	433						chloride channel complex|plasma membrane	chloride channel activity			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			CCAGTAGGTCCCTGGCTGGGC	0.597000														59			30		0	0	0.002836	0	0
TRIM29	23650	broad.mit.edu	37	11	119996561	119996561	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:119996561G>A	uc001pwz.3	-	3	1295	c.1171C>T	c.(1171-1173)Cca>Tca	p.P391S	TRIM29_uc010rzi.2_Missense_Mutation_p.P130S|TRIM29_uc010rzj.2_Missense_Mutation_p.P124S|TRIM29_uc001pxa.3_Non-coding_Transcript	NM_012101	NP_036233	Q14134	TRI29_HUMAN	Homo sapiens tripartite motif containing 29 (TRIM29), mRNA.	391					transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)		GGCAGGGGTGGGGGGAGAGAG	0.532000														32			13		0	0	0.002450	0	0
OR4L1	122742	broad.mit.edu	37	14	20528601	20528601	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:20528601G>A	uc001vwn.1	+	0	398	c.398G>A	c.(397-399)aGg>aAg	p.R133K		NM_001004717	NP_001004717	Q8NH43	OR4L1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily L, member 1 (OR4L1), mRNA.	133					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		CTGCACTATAGGACAATCATG	0.413000														80			29		0	0	0.008361	0	0
LRP1B	53353	broad.mit.edu	37	2	141259324	141259324	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:141259324T>A	uc002tvj.1	-	54	9754	c.8782A>T	c.(8782-8784)Aat>Tat	p.N2928Y		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	2928	EGF-like 6.				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)		AAACATTCATTTATATGGCAG	0.408000										TSP Lung(27;0.18)				49			12		0	0	0.001368	0	0
GRIK3	2899	broad.mit.edu	37	1	37270690	37270690	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:37270690G>A	uc001caz.2	-	14	2598	c.2463C>T	c.(2461-2463)atC>atT	p.I821I	GRIK3_uc001cba.1_Silent_p.I821I	NM_000831	NP_000822	Q13003	GRIK3_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 3 (GRIK3), mRNA.	821					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	G-protein-coupled receptor binding|adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	AGATGCCCCCGATCTTCTGGA	0.597000														44			22		0	0	0.005443	0	0
HAUS4	54930	broad.mit.edu	37	14	23417112	23417112	+	Silent	SNP	A	G	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:23417112A>G	uc001whw.3	-	6	922	c.673T>C	c.(673-675)Ttg>Ctg	p.L225L	HAUS4_uc001who.3_Intron|HAUS4_uc001wht.3_Silent_p.L225L|HAUS4_uc001whu.3_Silent_p.L180L|HAUS4_uc001whv.3_Silent_p.L101L|HAUS4_uc001whq.3_Intron	NM_001166269	NP_060285	Q9H6D7	HAUS4_HUMAN	Homo sapiens HAUS augmin-like complex, subunit 4 (HAUS4), transcript variant 1, mRNA.	225					cell division|centrosome organization|mitosis|spindle assembly	HAUS complex|centrosome|microtubule|spindle				breast(3)|cervix(1)|endometrium(2)|lung(6)|ovary(1)|skin(1)	14						TCCAGCAGCAACATCTGCTCC	0.557000														48			27		0	0	0.008361	0	0
COL17A1	1308	broad.mit.edu	37	10	105798832	105798832	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:105798832C>T	uc001kxr.3	-	43	3113	c.2944G>A	c.(2944-2946)Gaa>Aaa	p.E982K		NM_000494	NP_000485	Q9UMD9	COHA1_HUMAN	Homo sapiens collagen, type XVII, alpha 1 (COL17A1), mRNA.	982	Triple-helical region.				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		TTCTTACCTTCAGAAGGACCA	0.488000														35			15		0	0	0.006122	0	0
GCKR	2646	broad.mit.edu	37	2	27720498	27720498	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:27720498G>A	uc002rky.3	+	3	351	c.285_splice	c.e3+1	p.K95_splice	FNDC4_uc002rkx.3_5'Flank|GCKR_uc010ezd.3_Splice_Site_p.K95_splice|GCKR_uc010ylu.2_Splice_Site	NM_001486	NP_001477	Q14397	GCKR_HUMAN	Homo sapiens glucokinase (hexokinase 4) regulator (GCKR), mRNA.	95	SIS 1.				carbohydrate metabolic process|glucose transport|negative regulation of glucokinase activity|positive regulation of gene expression|protein import into nucleus, translocation|regulation of glucose transport|response to fructose stimulus|transmembrane transport|triglyceride homeostasis|urate metabolic process	cytosol|nucleoplasm	fructose-6-phosphate binding|protein binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(2)	29	Acute lymphoblastic leukemia(172;0.155)					AGTGCTGAAGGTACTAACCTT	0.433000														22			8		0	0	0.003080	0	0
CLDN6	9074	broad.mit.edu	37	16	3065695	3065695	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:3065695C>T	uc021tbb.1	-	0	328	c.328G>A	c.(328-330)Gag>Aag	p.E110K	CLDN6_uc002csu.4_Missense_Mutation_p.E110K	NM_021195	NP_067018	P56747	CLD6_HUMAN	Homo sapiens claudin 6 (CLDN6), mRNA.	110					calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	10						GAATCCTTCTCCTCCACACAG	0.612000														20			6		0	0	0.001168	0	0
HRH2	3274	broad.mit.edu	37	5	175110437	175110437	+	Silent	SNP	C	T	T	rs149131528	byFrequency	TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:175110437C>T	uc003mdc.4	+	1	845	c.201C>T	c.(199-201)ctC>ctT	p.L67L	HRH2_uc003mdd.2_Silent_p.L67L	NM_001131055	NP_001124527	P25021	HRH2_HUMAN	Homo sapiens histamine receptor H2 (HRH2), transcript variant 1, mRNA.	67					G-protein signaling, coupled to cyclic nucleotide second messenger|immune response	integral to plasma membrane	histamine receptor activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(10)|ovary(1)	22	all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711)	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)	Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149)	Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Nizatidine(DB00585)|Ranitidine(DB00863)	ACCTGCTCCTCGGCCTCCTGG	0.572000														60			23		0	0	0.002780	0	0
HMCN1	83872	broad.mit.edu	37	1	186037103	186037103	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:186037103C>T	uc001grq.1	+	49	8072	c.7843C>T	c.(7843-7845)Cct>Tct	p.P2615S	MIR548F1_uc021pgf.1_Intron	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	2615	Ig-like C2-type 24.				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						GGATGGCACTCCTTTAGAATC	0.413000														78			25		0	0	0.004656	0	0
C9orf171	389799	broad.mit.edu	37	9	135374806	135374806	+	Missense_Mutation	SNP	G	A	A	rs145957603		TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:135374806G>A	uc004cbn.3	+	3	499	c.451G>A	c.(451-453)Gag>Aag	p.E151K	C9orf171_uc004cbo.3_Missense_Mutation_p.E115K	NM_207417	NP_997300	Q6ZQR2	CI171_HUMAN	Homo sapiens chromosome 9 open reading frame 171 (C9orf171), mRNA.	151										large_intestine(7)|lung(9)|ovary(4)|prostate(3)	23						CTGCCCCCACGAGCTGACCCG	0.632000														36			16		0	0	0.003163	0	0
FLT3	2322	broad.mit.edu	37	13	28626773	28626773	+	Nonsense_Mutation	SNP	T	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr13:28626773T>A	uc001urw.3	-	4	605	c.523A>T	c.(523-525)Aaa>Taa	p.K175*	FLT3_uc010aao.3_Non-coding_Transcript|FLT3_uc010tdn.2_Nonsense_Mutation_p.K175*	NM_004119	NP_004110	P36888	FLT3_HUMAN	Homo sapiens fms-related tyrosine kinase 3 (FLT3), mRNA.	175					positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity	p.R174K(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)	TTTTCCATTTTTCTAAAGTAA	0.413000			"""Mis, O"""		"""AML, ALL"""									67			24		0	0	0.005443	0	0
PKDREJ	10343	broad.mit.edu	37	22	46656462	46656462	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr22:46656462C>T	uc003bhh.3	-	0	2758	c.2758G>A	c.(2758-2760)Gat>Aat	p.D920N		NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN	Homo sapiens polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin) (PKDREJ), mRNA.	920					acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		TTTTCCTGATCATTTAACCAA	0.438000														96			61		0	0	0.003610	0	0
EPHX2	2053	broad.mit.edu	37	8	27396186	27396186	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:27396186C>T	uc003xfu.3	+	13	1334	c.1253C>T	c.(1252-1254)tCc>tTc	p.S418F	EPHX2_uc010lut.1_Missense_Mutation_p.S418F|EPHX2_uc010luv.3_Missense_Mutation_p.S352F|EPHX2_uc003xfv.3_Missense_Mutation_p.S365F|EPHX2_uc010luw.3_Missense_Mutation_p.S352F	NM_001979	NP_001970	P34913	HYES_HUMAN	Homo sapiens epoxide hydrolase 2, cytoplasmic (EPHX2), mRNA.	418	Epoxide hydrolase.				aromatic compound catabolic process|cellular calcium ion homeostasis|drug metabolic process|inflammatory response|positive regulation of vasodilation|reactive oxygen species metabolic process|regulation of blood pressure|response to toxin|xenobiotic metabolic process	Golgi apparatus|cytosol|focal adhesion|nucleolus|peroxisome|soluble fraction	epoxide hydrolase activity|metal ion binding|protein homodimerization activity	p.S418Y(2)|p.S418S(1)		cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	27		Ovarian(32;2.61e-05)|all_epithelial(46;0.207)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0226)|Epithelial(17;1.12e-09)|Colorectal(74;0.157)	Tamoxifen(DB00675)	AGTGTTTTATCCATGCATAAA	0.408000														20			10		0	0	0.001855	0	0
CRMP1	1400	broad.mit.edu	37	4	5843134	5843135	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:5843134_5843135GG>AA	uc003gis.3	-	7	1142_1143	c.1053_1054CC>TT	c.(1051-1056)ttccgg>ttTTgg	p.R352W	CRMP1_uc003giq.3_Missense_Mutation_p.R238W|CRMP1_uc003gir.3_Missense_Mutation_p.R233W	NM_001014809	NP_001014809	Q14194	DPYL1_HUMAN	Homo sapiens collapsin response mediator protein 1 (CRMP1), transcript variant 1, mRNA.	238				Missing (in Ref. 6; AAK55500).	axon guidance|pyrimidine base catabolic process	cytosol|microtubule organizing center|spindle	dihydropyrimidinase activity|protein binding			NS(1)|cervix(2)|endometrium(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36				Colorectal(103;0.0721)		GTGATGGCCCGGAACACCGCCT	0.559000														66			41		0	0	0.004672	0	0
PI3	5266	broad.mit.edu	37	20	43804687	43804687	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr20:43804687C>T	uc002xng.3	+	1	289	c.265C>T	c.(265-267)Cct>Tct	p.P89S		NM_002638	NP_002629	P19957	ELAF_HUMAN	Homo sapiens peptidase inhibitor 3, skin-derived (PI3), mRNA.	89	WAP.				copulation	proteinaceous extracellular matrix	serine-type endopeptidase inhibitor activity	p.P88S(1)		large_intestine(1)|lung(5)|skin(1)	7		Myeloproliferative disorder(115;0.0122)				GTTGAATCCCCCTAACCGCTG	0.527000														50			31		0	0	0.002096	0	0
OR2A5	393046	broad.mit.edu	37	7	143747706	143747706	+	Missense_Mutation	SNP	C	T	T	rs149614119	by1000genomes	TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:143747706C>T	uc011ktw.2	+	0	212	c.212C>T	c.(211-213)tCg>tTg	p.S71L		NM_012365	NP_036497	Q96R48	OR2A5_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 5 (OR2A5), mRNA.	71					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S71L(2)		cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38	Melanoma(164;0.0783)					ATTGATATTTCGTATGCTTCC	0.483000														48			23		0	0	0.002299	0	0
C6orf58	352999	broad.mit.edu	37	6	127912715	127912715	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:127912715T>G	uc003qbh.3	+	5	953	c.941T>G	c.(940-942)gTa>gGa	p.V314G		NM_001010905	NP_001010905	Q6P5S2	CF058_HUMAN	Homo sapiens chromosome 6 open reading frame 58 (C6orf58), mRNA.	314						extracellular region				kidney(3)|large_intestine(3)|liver(1)|lung(7)|pancreas(1)	15				GBM - Glioblastoma multiforme(226;0.0405)|all cancers(137;0.156)		AAATCTAATGTATATAGAGAT	0.274000														32			8		0	0	0.006214	0	0
ARMC2	84071	broad.mit.edu	37	6	109274309	109274309	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:109274309C>T	uc003pss.4	+	12	1844	c.1670C>T	c.(1669-1671)tCc>tTc	p.S557F	ARMC2_uc011eao.2_Missense_Mutation_p.S392F	NM_032131	NP_115507	Q8NEN0	ARMC2_HUMAN	Homo sapiens armadillo repeat containing 2 (ARMC2), mRNA.	557							binding			endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)	24		all_cancers(87;1.14e-07)|Acute lymphoblastic leukemia(125;2.3e-10)|all_hematologic(75;3.3e-08)|all_epithelial(87;0.000111)|Colorectal(196;0.03)|all_lung(197;0.11)		Epithelial(106;0.000197)|BRCA - Breast invasive adenocarcinoma(108;0.000236)|all cancers(137;0.000279)|OV - Ovarian serous cystadenocarcinoma(136;0.00434)		GAACAATTTTCCAAAGAGAAA	0.468000														18			8		0	0	0.003080	0	0
ARMC6	93436	broad.mit.edu	37	19	19166145	19166145	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:19166145C>T	uc002nld.3	+	6	1527	c.1095C>T	c.(1093-1095)gtC>gtT	p.V365V	ARMC6_uc002nlc.3_Silent_p.V340V|ARMC6_uc010xql.2_Silent_p.V272V|ARMC6_uc010xqm.2_Silent_p.V365V	NM_001199196	NP_001186125	Q6NXE6	ARMC6_HUMAN	Homo sapiens armadillo repeat containing 6 (ARMC6), transcript variant 1, mRNA.	365							protein binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(5)|ovary(1)|prostate(1)	14			OV - Ovarian serous cystadenocarcinoma(5;5.66e-06)|Epithelial(12;0.000391)			ATGCTATTGTCCGTGCTGGTG	0.627000														26			16		0	0	0.004990	0	0
TTN	7273	broad.mit.edu	37	2	179458929	179458929	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:179458929C>T	uc021vsy.1	-	245	50712	c.50487G>A	c.(50485-50487)acG>acA	p.T16829T	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.T10524T|TTN_uc021vta.1_Silent_p.T10457T|TTN_uc021vtb.1_Silent_p.T10332T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	17756	Ig-like 101.						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)			CAACTCGAATCGTGAGCTTAT	0.418000														51			26		0	0	0.003954	0	0
PIGR	5284	broad.mit.edu	37	1	207110656	207110656	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:207110656C>T	uc001hez.3	-	3	1013	c.829G>A	c.(829-831)Gaa>Aaa	p.E277K	PIGR_uc009xbz.3_Missense_Mutation_p.E277K	NM_002644	NP_002635	P01833	PIGR_HUMAN	Homo sapiens polymeric immunoglobulin receptor (PIGR), mRNA.	277	Ig-like V-type 3.					extracellular region|integral to plasma membrane	protein binding			central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						TCACAGTTTTCCCCACTGCTC	0.587000														53			13		0	0	0.001368	0	0
LOC100130331	100130331	broad.mit.edu	37	1	238090459	238090459	+	RNA	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:238090459G>A	uc010pyc.2	+	11		c.1965G>A								Homo sapiens POTE ankyrin domain family, member F pseudogene (LOC100130331), non-coding RNA.																		AGGCCTGCCCGAACCCCAAGG	0.577000														13			14		0	0	0.002450	0	0
QRSL1	55278	broad.mit.edu	37	6	107097034	107097034	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:107097034C>T	uc003prm.3	+	4	631	c.515C>T	c.(514-516)tCa>tTa	p.S172L	QRSL1_uc003prl.2_Missense_Mutation_p.S172L	NM_018292	NP_060762	Q9H0R6	QRSL1_HUMAN	Homo sapiens glutaminyl-tRNA synthase (glutamine-hydrolyzing)-like 1 (QRSL1), mRNA.	172				S -> P (in Ref. 1; CAB66614).	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)		GGAGGAAGCTCAGGTGGGAGT	0.428000														50			11		0	0	0.001855	0	0
SKIV2L	6499	broad.mit.edu	37	6	31928279	31928279	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:31928279C>T	uc003nyn.1	+	4	814	c.425C>T	c.(424-426)tCc>tTc	p.S142F	RDBP_uc003nyk.3_5'Flank|RDBP_uc011dot.2_5'Flank|RDBP_uc021yvb.1_5'Flank|SKIV2L_uc011dou.1_5'UTR|SKIV2L_uc011dov.1_Intron	NM_006929	NP_008860	Q15477	SKIV2_HUMAN	Homo sapiens superkiller viralicidic activity 2-like (S. cerevisiae) (SKIV2L), mRNA.	142						nucleus	ATP binding|ATP-dependent RNA helicase activity|RNA binding|protein binding			breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						GGGCCAGCCTCCCAGTCCTTA	0.542000														227			98		0	0	0.003610	0	0
SULT1B1	27284	broad.mit.edu	37	4	70615496	70615496	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:70615496C>T	uc003hen.3	-	3	616	c.318G>A	c.(316-318)gtG>gtA	p.V106V		NM_014465	NP_055280	O43704	ST1B1_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 1B, member 1 (SULT1B1), mRNA.	106					3'-phosphoadenosine 5'-phosphosulfate metabolic process|cellular biogenic amine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|thyroid hormone metabolic process|xenobiotic metabolic process	cytosol				breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(14)|prostate(1)|upper_aerodigestive_tract(1)	24						GATGTGTTTTCACAATCCGGG	0.388000														71			22		0	0	0.004656	0	0
SLC24A3	57419	broad.mit.edu	37	20	19701694	19701694	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr20:19701694C>T	uc002wrl.3	+	16	2042	c.1845C>T	c.(1843-1845)ctC>ctT	p.L615L		NM_020689	NP_065740	Q9HC58	NCKX3_HUMAN	Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 3 (SLC24A3), mRNA.	615						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						GTGGGTGCCTCCTCCTGTATG	0.592000														74			40		0	0	0.008740	0	0
PRKACB	5567	broad.mit.edu	37	1	84668433	84668433	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:84668433C>T	uc001djl.3	+	7	944	c.851C>T	c.(850-852)cCc>cTc	p.P284L	PRKACB_uc001djj.3_Missense_Mutation_p.P237L|PRKACB_uc001djn.3_Missense_Mutation_p.P241L|PRKACB_uc010oru.2_Missense_Mutation_p.P225L|PRKACB_uc010ort.2_Missense_Mutation_p.P244L|PRKACB_uc001djp.3_Missense_Mutation_p.P243L|PRKACB_uc001djq.3_Missense_Mutation_p.P207L|PRKACB_uc010orv.2_Missense_Mutation_p.P224L|PRKACB_uc001dji.3_Missense_Mutation_p.P237L|PRKACB_uc009wcf.2_Missense_Mutation_p.P243L	NM_182948	NP_891993	P22694	KAPCB_HUMAN	Homo sapiens protein kinase, cAMP-dependent, catalytic, beta (PRKACB), transcript variant 1, mRNA.	237	Protein kinase.				G-protein signaling, coupled to cAMP nucleotide second messenger|activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|gluconeogenesis|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|regulation of insulin secretion|synaptic transmission|transmembrane transport|triglyceride catabolic process|water transport	cAMP-dependent protein kinase complex|centrosome|cytosol|nucleoplasm|plasma membrane	ATP binding|cAMP-dependent protein kinase activity|magnesium ion binding|protein binding			breast(1)|endometrium(2)|kidney(1)|lung(11)|ovary(1)	16				all cancers(265;0.00536)|Epithelial(280;0.0161)|OV - Ovarian serous cystadenocarcinoma(397;0.141)		GCTGGCTATCCCCCATTCTTT	0.373000														73			25		0	0	0.003330	0	0
TTN	7273	broad.mit.edu	37	2	179641269	179641269	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:179641269G>A	uc021vsy.1	-	27	5547	c.5322C>T	c.(5320-5322)atC>atT	p.I1774I	TTN_uc021vsz.1_Silent_p.I1728I|TTN_uc021vta.1_Silent_p.I1728I|TTN_uc021vtb.1_Silent_p.I1728I|TTN_uc002unb.2_Silent_p.I1774I|AK123298_uc002unc.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	1774	Ig-like 8.						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)			TGCAAGTAATGATACCACTGT	0.423000														52			22		0	0	0.002780	0	0
OR6T1	219874	broad.mit.edu	37	11	123813845	123813845	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:123813845C>T	uc010sab.2	-	0	701	c.701G>A	c.(700-702)cGa>cAa	p.R234Q		NM_001005187	NP_001005187	Q8NGN1	OR6T1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily T, member 1 (OR6T1), mRNA.	234					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)		CGCTTTCCTTCGCTCAGCAGC	0.517000														35			19		0	0	0.006122	0	0
PCDHGB8P	56120	broad.mit.edu	37	5	140807430	140807430	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:140807430G>A	uc011daz.2	+	0	1578	c.1219G>A	c.(1219-1221)Gag>Aag	p.E407K	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_5'Flank|PCDHGC5_uc003lkt.2_5'Flank					Homo sapiens protocadherin gamma subfamily B, 8 pseudogene (PCDHGB8P), non-coding RNA.																		GTGCGCCTTCGAGCTCACGAT	0.677000														10			7		0	0	0.004482	0	0
UNC79	57578	broad.mit.edu	37	14	94083641	94083641	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:94083641C>T	uc001ybv.1	+	25	3833	c.3750C>T	c.(3748-3750)atC>atT	p.I1250I	UNC79_uc001ybs.1_Silent_p.I1228I	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	Homo sapiens unc-79 homolog (C. elegans) (UNC79), mRNA.	1405						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						TGCTTGTCATCCTTTACAAGG	0.488000														64			30		0	0	0.002836	0	0
FMN2	56776	broad.mit.edu	37	1	240371045	240371045	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:240371045C>T	uc010pye.2	+	5	3170	c.2945C>T	c.(2944-2946)cCa>cTa	p.P982L	FMN2_uc010pyd.2_Missense_Mutation_p.P978L	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	Homo sapiens formin 2 (FMN2), mRNA.	978	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	p.Q981R(1)		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)			ATACCTCCTCCACCCCCTCTA	0.716000														5			4		0	0	0.000248	0	0
FLT1	2321	broad.mit.edu	37	13	29002051	29002051	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr13:29002051C>T	uc001usb.3	-	8	1399	c.1114G>A	c.(1114-1116)Gat>Aat	p.D372N	FLT1_uc010aar.1_Missense_Mutation_p.D372N|FLT1_uc001usc.3_Missense_Mutation_p.D372N|FLT1_uc010tdp.1_Missense_Mutation_p.D372N	NM_002019	NP_002010	P17948	VGFR1_HUMAN	Homo sapiens fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor) (FLT1), transcript variant 1, mRNA.	372	Ig-like C2-type 4.				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	Golgi apparatus|extracellular space|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	GGTAACCCATCTTTTAACCTG	0.398000														38			12		0	0	0.001855	0	0
IL1RL1	9173	broad.mit.edu	37	2	102968169	102968169	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:102968169G>A	uc002tbu.1	+	10	1730	c.1459G>A	c.(1459-1461)Gag>Aag	p.E487K	IL18R1_uc002tbw.4_Intron	NM_016232	NP_057316	Q01638	ILRL1_HUMAN	Homo sapiens interleukin 1 receptor-like 1 (IL1RL1), transcript variant 1, mRNA.	487	TIR.				innate immune response	integral to membrane	interleukin-1 receptor activity|receptor signaling protein activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						GGCTCTGAGCGAGCTGGACAT	0.537000														31			12		0	0	0.000978	0	0
KRT71	112802	broad.mit.edu	37	12	52942560	52942560	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:52942560G>A	uc001sao.3	-	3	808	c.738C>T	c.(736-738)gcC>gcT	p.A246A		NM_033448	NP_258259	Q3SY84	K2C71_HUMAN	Homo sapiens keratin 71 (KRT71), mRNA.	246	Coil 1B.|Rod.						structural molecule activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.194)		CCACCTTATTGGCGTAAGCAG	0.547000														54			28		0	0	0.002836	0	0
MXRA5	25878	broad.mit.edu	37	X	3240713	3240713	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chrX:3240713G>A	uc004crg.4	-	4	3170	c.3013C>T	c.(3013-3015)Ccc>Tcc	p.P1005S		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	1005						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CAGATGGTGGGGGTTGGAGTA	0.463000														30			43		0	0	0.003610	0	0
SCEL	8796	broad.mit.edu	37	13	78183252	78183252	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr13:78183252G>A	uc001vki.3	+	21	1447	c.1277_splice	c.e21+1	p.G426_splice	SCEL_uc010thx.2_Splice_Site_p.G384_splice|SCEL_uc001vkj.3_Splice_Site_p.G406_splice	NM_144777	NP_659001	O95171	SCEL_HUMAN	Homo sapiens sciellin (SCEL), transcript variant 1, mRNA.	426	16 X approximate tandem repeats.				embryo development|keratinocyte differentiation	cornified envelope|cytoplasm|membrane	protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(18)|ovary(5)|prostate(1)|stomach(1)|urinary_tract(1)	40		Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0233)		AGTACTGAAGGGTAAGATTTA	0.313000														24			9		0	0	0.001368	0	0
TEP1	7011	broad.mit.edu	37	14	20846375	20846376	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:20846375_20846376GG>AA	uc001vxe.3	-	38	5568_5569	c.5528_5529CC>TT	c.(5527-5529)gcc>gTT	p.A1843V	TEP1_uc010ahk.3_Missense_Mutation_p.A1186V|TEP1_uc010tlf.1_Non-coding_Transcript|TEP1_uc010tlg.1_Missense_Mutation_p.A1735V|TEP1_uc010tlh.1_Missense_Mutation_p.A181V	NM_007110	NP_009041	Q99973	TEP1_HUMAN	Homo sapiens telomerase-associated protein 1 (TEP1), mRNA.	1843					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		TACGGATAGAGGCTCCGGGTGC	0.599000														34			20		0	0	0.004672	0	0
ANKFN1	162282	broad.mit.edu	37	17	54535305	54535305	+	Missense_Mutation	SNP	C	T	T	rs145812649	by1000genomes	TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:54535305C>T	uc002iun.1	+	12	1566	c.1531C>T	c.(1531-1533)Cgg>Tgg	p.R511W		NM_153228	NP_694960	Q8N957	ANKF1_HUMAN	Homo sapiens ankyrin-repeat and fibronectin type III domain containing 1 (ANKFN1), mRNA.	511										NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						GCTGCAAACTCGGCAGAAGAT	0.463000														30			10		0	0	0.008291	0	0
KIAA1522	57648	broad.mit.edu	37	1	33236042	33236042	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:33236042C>T	uc001bvu.1	+	5	1306	c.1262C>T	c.(1261-1263)tCc>tTc	p.S421F	KIAA1522_uc010ohm.1_Missense_Mutation_p.S373F|KIAA1522_uc001bvv.2_Missense_Mutation_p.S362F|KIAA1522_uc010ohn.1_Intron	NM_020888	NP_065939	Q9P206	K1522_HUMAN	Homo sapiens KIAA1522 (KIAA1522), transcript variant 1, mRNA.	362	Ser-rich.									breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				CACTCTCAATCCTCCGACACC	0.647000														7			4		0	0	0.000602	0	0
ITGB1	3688	broad.mit.edu	37	10	33218799	33218799	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:33218799C>T	uc001iws.4	-	3	463	c.327G>A	c.(325-327)gaG>gaA	p.E109E	ITGB1_uc001iwr.4_Silent_p.E109E|ITGB1_uc001iwt.4_Silent_p.E109E	NM_133376	NP_596867	P05556	ITB1_HUMAN	Homo sapiens integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12) (ITGB1), transcript variant 1E, mRNA.	109					axon guidance|blood coagulation|cell-cell adhesion mediated by integrin|cell-matrix adhesion|cellular defense response|homophilic cell adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|leukocyte migration|positive regulation of apoptosis|regulation of immune response	cell surface|cleavage furrow|focal adhesion|melanosome|neuromuscular junction|ruffle|sarcolemma	identical protein binding|protein heterodimerization activity|receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Ovarian(717;1.34e-05)|Breast(68;0.0634)				GAGTAATATCCTCTGGCTTGA	0.423000														134			52		0	0	0.003610	0	0
KIAA0240	23506	broad.mit.edu	37	6	42796338	42796338	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:42796338C>T	uc003osn.1	+	5	418	c.267C>T	c.(265-267)ctC>ctT	p.L89L	KIAA0240_uc003osm.1_Silent_p.L89L|KIAA0240_uc011duw.1_Silent_p.L89L|KIAA0240_uc003oso.1_Silent_p.L89L|KIAA0240_uc003osp.1_Silent_p.L89L	NM_015349	NP_056164	Q6AI39	K0240_HUMAN	Homo sapiens KIAA0240 (KIAA0240), mRNA.	89										NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(3)|skin(3)	44	Colorectal(47;0.196)		Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|all cancers(41;0.00524)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.104)			AAGATGAACTCGAGTCTTCTC	0.473000														43			7		0	0	0.001984	0	0
OR8A1	390275	broad.mit.edu	37	11	124440091	124440091	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:124440091C>T	uc010san.2	+	0	127	c.127C>T	c.(127-129)Ccc>Tcc	p.P43S		NM_001005194	NP_001005194	Q8NGG7	OR8A1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily A, member 1 (OR8A1), mRNA.	43					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P43T(2)		haematopoietic_and_lymphoid_tissue(1)|lung(16)|ovary(2)|prostate(1)|skin(2)	22		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214)		CCTCCAGCTCCCCCTCTTTCT	0.532000														51			29		0	0	0.002445	0	0
PRPF6	24148	broad.mit.edu	37	20	62626388	62626388	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr20:62626388C>T	uc002yho.3	+	4	726	c.558C>T	c.(556-558)ttC>ttT	p.F186F	PRPF6_uc002yhp.3_Silent_p.F186F	NM_012469	NP_036601	O94906	PRP6_HUMAN	Homo sapiens PRP6 pre-mRNA processing factor 6 homolog (S. cerevisiae) (PRPF6), mRNA.	186					assembly of spliceosomal tri-snRNP|positive regulation of transcription from RNA polymerase II promoter|spliceosome assembly	U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex|U5 snRNP|catalytic step 2 spliceosome|nucleoplasm	androgen receptor binding|ribonucleoprotein binding|transcription coactivator activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(38;6.47e-12)|all_epithelial(29;1.26e-13)|Lung NSC(23;9.37e-10)|all_lung(23;3.23e-09)					CTGACAGTTTCTTTGCCAAAC	0.512000														42			34		0	0	0.004878	0	0
C14orf177	283598	broad.mit.edu	37	14	99182645	99182645	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:99182645G>A	uc001yfz.2	+	2	536	c.117G>A	c.(115-117)ggG>ggA	p.G39G		NM_182560	NP_872366	Q52M58	CN177_HUMAN	Homo sapiens chromosome 14 open reading frame 177 (C14orf177), mRNA.	39										endometrium(1)|kidney(1)|large_intestine(1)|lung(10)	13		Melanoma(154;0.128)				TTGGTGAAGGGAAATGCCCAA	0.552000														19			18		0	0	0.007413	0	0
NDUFB6	4712	broad.mit.edu	37	9	32572894	32572895	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:32572894_32572895GG>AA	uc003zre.2	-	0	288_289	c.164_165CC>TT	c.(163-165)tcc>tTT	p.S55F	NDUFB6_uc003zrf.2_Missense_Mutation_p.S55F|NDUFB6_uc022bfg.1_Missense_Mutation_p.S55F	NM_002493	NP_002484	O95139	NDUB6_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 6, 17kDa (NDUFB6), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	55					mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|urinary_tract(1)	8			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00199)	NADH(DB00157)	TCCTCCAAGGGGATTTATTCTC	0.574000											OREG0019131	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		68			25		0	0	0.004672	0	0
UGT2B15	7366	broad.mit.edu	37	4	69535817	69535817	+	Nonsense_Mutation	SNP	G	A	A	rs138640811	byFrequency	TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:69535817G>A	uc021xow.1	-	0	678	c.520C>T	c.(520-522)Cga>Tga	p.R174*		NM_001076	NP_001067	P54855	UDB15_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B15 (UGT2B15), mRNA.	174				LYSLRFSV -> VYRSRISR (in Ref. 6; AAA83406).	steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity										ACAGAGAATCGAAGACTGTAC	0.408000														215			60		0	0	0.003610	0	0
DMAP1	55929	broad.mit.edu	37	1	44680553	44680553	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:44680553T>G	uc001clq.1	+	3	456	c.376T>G	c.(376-378)Ttt>Gtt	p.F126V	DMAP1_uc010okq.1_Missense_Mutation_p.F152V|DMAP1_uc010okr.1_Missense_Mutation_p.F126V|DMAP1_uc010oks.1_Missense_Mutation_p.F126V|DMAP1_uc010okt.1_Missense_Mutation_p.F126V|DMAP1_uc001clr.1_Missense_Mutation_p.F126V|DMAP1_uc001cls.1_Missense_Mutation_p.F126V|DMAP1_uc010oku.1_Missense_Mutation_p.F126V	NM_001034024	NP_061973	Q9NPF5	DMAP1_HUMAN	Homo sapiens DNA methyltransferase 1 associated protein 1 (DMAP1), transcript variant 3, mRNA.	126					DNA methylation|histone H2A acetylation|histone H4 acetylation|negative regulation of transcription, DNA-dependent|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex	DNA binding|protein binding			breast(1)|cervix(1)|endometrium(6)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(166;0.155)					GGACTACCCCTTTGCCAGGTT	0.572000														35			9		0	0	0.008291	0	0
HOXB1	3211	broad.mit.edu	37	17	46606983	46606983	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:46606983C>T	uc002ink.1	-	1	838	c.832G>A	c.(832-834)Gag>Aag	p.E278K	HOXB1_uc021tzf.1_3'UTR	NM_002144	NP_002135	P14653	HXB1_HUMAN	Homo sapiens homeobox B1 (HOXB1), mRNA.	278						nucleus	protein domain specific binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CCAGCTGCCTCCTTGGGGCAG	0.602000														60			14		0	0	0.004990	0	0
NAALADL2	254827	broad.mit.edu	37	3	175520845	175520845	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:175520845G>A	uc003fit.3	+	13	2329	c.2242G>A	c.(2242-2244)Gag>Aag	p.E748K		NM_207015	NP_996898	Q58DX5	NADL2_HUMAN	Homo sapiens N-acetylated alpha-linked acidic dipeptidase-like 2 (NAALADL2), mRNA.	748					proteolysis	integral to membrane	peptidase activity			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		AATACTTATAGAGGCTTGGGA	0.388000														26			12		0	0	0.001368	0	0
KLK1	3816	broad.mit.edu	37	19	51326959	51326959	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:51326959C>T	uc002ptk.1	-	1	85	c.46_splice	c.e1+1	p.G16_splice	KLK1_uc010ycg.1_Splice_Site	NM_002257	NP_002248	P06870	KLK1_HUMAN	Homo sapiens kallikrein 1 (KLK1), mRNA.	16					proteolysis	nucleus	serine-type endopeptidase activity			breast(1)|large_intestine(4)|lung(7)|urinary_tract(1)	13		all_neural(266;0.0199)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00399)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ACTGTCTCACCAGTCCCCCCC	0.652000														21			17		0	0	0.004990	0	0
TRIM26	7726	broad.mit.edu	37	6	30166681	30166681	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:30166681G>A	uc003npr.3	-	2	409	c.200C>T	c.(199-201)cCc>cTc	p.P67L	TRIM26_uc003nps.3_Missense_Mutation_p.P67L|TRIM26_uc003npt.3_Missense_Mutation_p.P67L|TRIM26_uc010jry.3_5'UTR|TRIM26_uc003npu.1_Missense_Mutation_p.P67L	NM_003449	NP_003440	Q12899	TRI26_HUMAN	Homo sapiens tripartite motif containing 26 (TRIM26), transcript variant 1, mRNA.	67							DNA binding|zinc ion binding			lung(1)|ovary(2)	3						TTGCCACACGGGTCGGATGTT	0.627000														39			18		0	0	0.006122	0	0
SLC1A7	6512	broad.mit.edu	37	1	53553807	53553807	+	Silent	SNP	G	A	A	rs137924327		TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:53553807G>A	uc021onn.1	-	10	1902	c.1734C>T	c.(1732-1734)tcC>tcT	p.S578S	SLC1A7_uc021onm.1_Nonsense_Mutation_p.R454*|SLC1A7_uc001cux.3_Silent_p.S172S|SLC1A7_uc001cuy.3_Silent_p.S519S|SLC1A7_uc021ono.1_Non-coding_Transcript	NM_006671	NP_006662	O00341	EAA5_HUMAN	Homo sapiens solute carrier family 1 (glutamate transporter), member 7 (SLC1A7), mRNA.	519						integral to membrane|plasma membrane	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Colorectal(1306;0.234)	L-Glutamic Acid(DB00142)	GGGTGAGCTCGGAGGCCTCGG	0.632000														25			19		0	0	0.008871	0	0
COL2A1	1280	broad.mit.edu	37	12	48383031	48383031	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:48383031G>A	uc001rqu.3	-	17	1283	c.1102C>T	c.(1102-1104)Cct>Tct	p.P368S	COL2A1_uc009zkw.3_5'Flank|COL2A1_uc001rqv.3_Missense_Mutation_p.P299S	NM_001844	NP_001835	P02458	CO2A1_HUMAN	Homo sapiens collagen, type II, alpha 1 (COL2A1), transcript variant 1, mRNA.	368	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)	GGAGCACCAGGGAAGCCAGGA	0.607000														30			12		0	0	0.001855	0	0
REV1	51455	broad.mit.edu	37	2	100050846	100050846	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:100050846G>A	uc002tad.3	-	7	1598	c.1386C>T	c.(1384-1386)aaC>aaT	p.N462N	REV1_uc002tac.3_Silent_p.N462N	NM_016316	NP_057400	Q9UBZ9	REV1_HUMAN	Homo sapiens REV1 homolog (S. cerevisiae) (REV1), transcript variant 1, mRNA.	462	UmuC.				DNA replication|error-prone translesion synthesis|response to UV	nucleoplasm	DNA-directed DNA polymerase activity|damaged DNA binding|magnesium ion binding|protein binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CCAGCTGGGGGTTAGCGCCAG	0.453000								Direct reversal of damage						50			26		0	0	0.005443	0	0
IGF1	3479	broad.mit.edu	37	12	102811659	102811659	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:102811659C>T	uc001tjp.4	-	3	744	c.525G>A	c.(523-525)aaG>aaA	p.K175K	IGF1_uc001tjn.2_Intron|IGF1_uc001tjm.2_Intron|IGF1_uc001tjo.2_Intron	NM_001111285	NP_001104755	P05019	IGF1_HUMAN	Homo sapiens insulin-like growth factor 1 (somatomedin C) (IGF1), transcript variant 3, mRNA.	175					DNA replication|Ras protein signal transduction|anti-apoptosis|bone mineralization involved in bone maturation|cellular component movement|glycolate metabolic process|muscle hypertrophy|myoblast differentiation|myoblast proliferation|myotube cell development|negative regulation of smooth muscle cell apoptosis|phosphatidylinositol-mediated signaling|platelet activation|platelet degranulation|positive regulation of DNA replication|positive regulation of Ras protein signal transduction|positive regulation of activated T cell proliferation|positive regulation of epithelial cell proliferation|positive regulation of fibroblast proliferation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis|positive regulation of osteoblast differentiation|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tyrosine phosphorylation of Stat5 protein|regulation of multicellular organism growth|satellite cell maintenance involved in skeletal muscle regeneration	platelet alpha granule lumen	growth factor activity|hormone activity|insulin receptor binding|insulin-like growth factor receptor binding|integrin binding			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)	11						TCTGCTCTTTCTTCTTTCCTC	0.468000														254			106		0	0	0.003610	0	0
ZNF432	9668	broad.mit.edu	37	19	52537028	52537028	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:52537028G>A	uc002pyk.3	-	4	2222	c.1904C>T	c.(1903-1905)tCc>tTc	p.S635F		NM_014650	NP_055465	O94892	ZN432_HUMAN	Homo sapiens zinc finger protein 432 (ZNF432), mRNA.	635					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	29		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.0054)|OV - Ovarian serous cystadenocarcinoma(262;0.0182)		TCTCTTTGAGGAGAAGGCTTT	0.413000														126			42		0	0	0.002222	0	0
TESK2	10420	broad.mit.edu	37	1	45887402	45887403	+	Missense_Mutation	DNP	GA	AT	AT			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:45887402_45887403GA>AT	uc001cns.1	-	2	741_742	c.338_339TC>AT	c.(337-339)atc>aAT	p.I113N	TESK2_uc009vxr.1_Missense_Mutation_p.I113N|TESK2_uc010olo.1_Missense_Mutation_p.I30N|TESK2_uc009vxs.1_5'UTR|TESK2_uc010olp.1_Missense_Mutation_p.I113N	NM_007170	NP_009101	Q96S53	TESK2_HUMAN	Homo sapiens testis-specific kinase 2 (TESK2), mRNA.	113	Protein kinase.				actin cytoskeleton organization|focal adhesion assembly|spermatogenesis	nucleus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	32	Acute lymphoblastic leukemia(166;0.155)					ATTACCTAAGGATGTTGGGATG	0.426000														124			39		0	0	0.004672	0	0
GPR108	56927	broad.mit.edu	37	19	6734246	6734246	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:6734246G>A	uc002mfp.3	-	4	493	c.447C>T	c.(445-447)tcC>tcT	p.S149S	GPR108_uc010duv.3_5'Flank	NM_001080452	NP_001073921	Q9NPR9	GP108_HUMAN	Homo sapiens G protein-coupled receptor 108 (GPR108), mRNA.	149						integral to membrane				breast(2)|cervix(1)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	13						GCCCTGGTTTGGAGGGTGCTT	0.652000											OREG0025092	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		39			15		0	0	0.004007	0	0
PDZD2	23037	broad.mit.edu	37	5	31983537	31983537	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:31983537G>A	uc003jhl.3	+	2	1141	c.753G>A	c.(751-753)gaG>gaA	p.E251E	PDZD2_uc003jhm.3_Silent_p.E251E|PDZD2_uc011cnx.1_Silent_p.E77E	NM_178140	NP_835260	O15018	PDZD2_HUMAN	Homo sapiens PDZ domain containing 2 (PDZD2), mRNA.	251					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						CTGAGCTGGAGAACGGCCCTG	0.577000														42			13		0	0	0.002450	0	0
CACNA1D	776	broad.mit.edu	37	3	53842732	53842732	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:53842732G>A	uc003dgv.4	+	45	5969	c.5806G>A	c.(5806-5808)Gag>Aag	p.E1936K	CACNA1D_uc003dgu.4_Missense_Mutation_p.E1956K|CACNA1D_uc003dgy.4_Missense_Mutation_p.E1912K|CACNA1D_uc003dgw.4_Missense_Mutation_p.E1603K|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.	1936					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.P1935Q(1)		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)	CAGCCAGGAAGAGGTCCCGTC	0.612000														27			36		0	0	0.006999	0	0
GPR98	84059	broad.mit.edu	37	5	89949582	89949582	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:89949582C>T	uc003kju.3	+	19	4287	c.4191C>T	c.(4189-4191)tcC>tcT	p.S1397S	GPR98_uc003kjt.3_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	1397					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	p.S1397S(2)		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)		TGACACTTTCCCTTCATTATA	0.373000														20			5		0	0	0.001984	0	0
RARRES3	5920	broad.mit.edu	37	11	63312210	63312210	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:63312210G>A	uc001nxf.4	+	2	304	c.236G>A	c.(235-237)aGc>aAc	p.S79N		NM_004585	NP_004576	Q9UL19	TIG3_HUMAN	Homo sapiens retinoic acid receptor responder (tazarotene induced) 3 (RARRES3), mRNA.	79					lipid catabolic process|negative regulation of cell proliferation		hydrolase activity			kidney(1)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	6						GTCAACAACAGCTTGGACCAT	0.542000														50			26		0	0	0.004656	0	0
PHACTR2	9749	broad.mit.edu	37	6	144074921	144074921	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:144074921C>T	uc010khi.3	+	3	525	c.326C>T	c.(325-327)tCa>tTa	p.S109L	PHACTR2_uc003qjq.4_Missense_Mutation_p.S98L|PHACTR2_uc010khh.3_Missense_Mutation_p.S98L|PHACTR2_uc003qjr.4_Missense_Mutation_p.S109L	NM_001100164	NP_001093634	O75167	PHAR2_HUMAN	Homo sapiens phosphatase and actin regulator 2 (PHACTR2), transcript variant 1, mRNA.	98							actin binding|protein phosphatase inhibitor activity			NS(3)|breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30				OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386)		TTTGAAAATTCAAACGGGCAC	0.383000														17			6		0	0	0.001168	0	0
TRIM36	55521	broad.mit.edu	37	5	114482906	114482906	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:114482906G>A	uc003kqs.3	-	2	993	c.484C>T	c.(484-486)Cca>Tca	p.P162S	TRIM36_uc011cwc.2_Missense_Mutation_p.P150S|TRIM36_uc003kqt.3_Missense_Mutation_p.P7S	NM_018700	NP_061170	Q9NQ86	TRI36_HUMAN	Homo sapiens tripartite motif containing 36 (TRIM36), transcript variant 1, mRNA.	162						acrosomal vesicle|cytoskeleton	ligase activity|zinc ion binding	p.P162L(1)		breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	37		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)		TGAGGTGGTGGTTTACAAAGG	0.418000														88			35		0	0	0.007835	0	0
HPS5	11234	broad.mit.edu	37	11	18327728	18327728	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:18327728A>G	uc001mod.1	-	6	1056	c.778T>C	c.(778-780)Ttc>Ctc	p.F260L	HPS5_uc001moe.1_Missense_Mutation_p.F146L|HPS5_uc001mof.1_Missense_Mutation_p.F146L	NM_181507	NP_852609	Q9UPZ3	HPS5_HUMAN	Homo sapiens Hermansky-Pudlak syndrome 5 (HPS5), transcript variant 1, mRNA.	260						cytosol				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						AGTTTCTTGAACTGATGTGTA	0.453000									Hermansky-Pudlak syndrome					64			32		0	0	0.005524	0	0
ZNF555	148254	broad.mit.edu	37	19	2853797	2853797	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:2853797C>T	uc002lwo.3	+	3	1872	c.1734C>T	c.(1732-1734)tcC>tcT	p.S578S	ZNF555_uc002lwn.4_Silent_p.S577S	NM_152791	NP_690004	Q8NEP9	ZN555_HUMAN	Homo sapiens zinc finger protein 555 (ZNF555), transcript variant 1, mRNA.	578					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)|urinary_tract(4)	23				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)		GTTCCTCATCCTTAAGGCGAC	0.388000														60			24		0	0	0.005443	0	0
SACS	26278	broad.mit.edu	37	13	23910790	23910790	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr13:23910790G>A	uc001uon.2	-	9	7814	c.7225C>T	c.(7225-7227)Caa>Taa	p.Q2409*	SACS_uc001uoo.2_Nonsense_Mutation_p.Q2262*|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.	2409					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)		CCTCTTTCTTGATCAATAGAT	0.353000														31			13		0	0	0.001368	0	0
FCRL3	115352	broad.mit.edu	37	1	157650795	157650795	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:157650795C>T	uc001fqz.4	-	11	2225	c.1933G>A	c.(1933-1935)Gag>Aag	p.E645K	FCRL3_uc001fqx.4_Non-coding_Transcript|FCRL3_uc001fqy.4_Non-coding_Transcript|FCRL3_uc009wsn.3_Non-coding_Transcript|FCRL3_uc009wso.3_Non-coding_Transcript|FCRL3_uc001fra.3_Missense_Mutation_p.E371K|FCRL3_uc001frb.3_Missense_Mutation_p.E645K|FCRL3_uc001frc.1_Missense_Mutation_p.E645K	NM_052939	NP_443171	Q96P31	FCRL3_HUMAN	Homo sapiens Fc receptor-like 3 (FCRL3), mRNA.	645						integral to membrane|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					GGCTCCAGCTCCATTGGGGCT	0.582000														25			22		0	0	0.002780	0	0
SCAND3	114821	broad.mit.edu	37	6	28543161	28543161	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:28543161C>T	uc003nlo.3	-	2	1939	c.1321G>A	c.(1321-1323)Gaa>Aaa	p.E441K		NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN	Homo sapiens SCAN domain containing 3 (SCAND3), mRNA.	441	Integrase catalytic.				DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity	p.E441K(2)		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						CTTGAAAATTCCCTCCCATTG	0.418000														36			17		0	0	0.004990	0	0
LPPR1	54886	broad.mit.edu	37	9	104048505	104048505	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:104048505C>T	uc004bbb.3	+	3	771	c.372C>T	c.(370-372)atC>atT	p.I124I	LPPR1_uc011lvi.2_Silent_p.I100I|LPPR1_uc004bbc.3_Silent_p.I124I|LPPR1_uc010mtc.3_Silent_p.I108I	NM_207299	NP_997182	Q8TBJ4	LPPR1_HUMAN	Homo sapiens lipid phosphate phosphatase-related protein type 1 (LPPR1), transcript variant 1, mRNA.	124						integral to membrane	catalytic activity										TTCGAAGGATCATAAGATTCA	0.373000														30			22		0	0	0.001523	0	0
KCNE3	10008	broad.mit.edu	37	11	74168498	74168498	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:74168498C>T	uc021qng.1	-	0	111	c.111G>A	c.(109-111)ctG>ctA	p.L37L	KCNE3_uc001ovc.3_Silent_p.L37L|KCNE3_uc001ovd.2_Silent_p.L37L	NM_005472	NP_005463	Q9Y6H6	KCNE3_HUMAN	Homo sapiens potassium voltage-gated channel, Isk-related family, member 3 (KCNE3), mRNA.	37						integral to membrane	voltage-gated potassium channel activity			cervix(1)|large_intestine(1)|lung(1)|ovary(1)	4	Breast(11;2.86e-06)					TGTCTGGCCCCAGCCCTGGCC	0.542000														43			26		0	0	0.008361	0	0
VLDLR	7436	broad.mit.edu	37	9	2651472	2651472	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:2651472C>T	uc003zhk.1	+	15	2706	c.2309C>T	c.(2308-2310)tCa>tTa	p.S770L	VLDLR_uc003zhl.1_Intron|VLDLR_uc003zhm.1_Intron	NM_003383	NP_003374	P98155	VLDLR_HUMAN	Homo sapiens very low density lipoprotein receptor (VLDLR), transcript variant 1, mRNA.	770	Clustered O-linked oligosaccharides.				cholesterol metabolic process|endocytosis|lipid transport|memory|very-low-density lipoprotein particle clearance	coated pit|integral to membrane|membrane fraction|plasma membrane|very-low-density lipoprotein particle	apolipoprotein binding|calcium ion binding|low-density lipoprotein receptor activity|very-low-density lipoprotein particle receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123)		ACAGAAATTTCAGCAACTAGT	0.383000														23			8		0	0	0.006214	0	0
GBP1P1	400759	broad.mit.edu	37	1	89875863	89875863	+	RNA	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:89875863G>A	uc009wcy.1	+	1		c.85G>A								Homo sapiens guanylate binding protein 1, interferon-inducible pseudogene 1 (GBP1P1), non-coding RNA.																		TTGCAGACAAGGGAACACCCC	0.433000														35			12		0	0	0.000978	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140262120	140262120	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:140262120G>A	uc003lif.2	+	0	267	c.267G>A	c.(265-267)cgG>cgA	p.R89R	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lie.1_Silent_p.R89R|PCDHAC2_uc003lid.3_Silent_p.R89R	NM_018904	NP_061727	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 13 (PCDHA13), transcript variant 1, mRNA.	104	Cadherin 1.				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)			TGAATTCTCGGATCGACCGCG	0.597000														141			34		0	0	0.004289	0	0
NLRP8	126205	broad.mit.edu	37	19	56466513	56466513	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:56466513C>T	uc002qmh.3	+	2	1160	c.1089C>T	c.(1087-1089)atC>atT	p.I363I	NLRP8_uc010etg.3_Silent_p.I363I	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	Homo sapiens NLR family, pyrin domain containing 8 (NLRP8), mRNA.	363	NACHT.					cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		TGGAAAAAATCAAGTATTTCC	0.458000														45			22		0	0	0.001523	0	0
OR11H4	390442	broad.mit.edu	37	14	20711004	20711004	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:20711004C>T	uc010tld.2	+	0	54	c.54C>T	c.(52-54)atC>atT	p.I18I		NM_001004479	NP_001004479	Q8NGC9	O11H4_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily H, member 4 (OR11H4), mRNA.	18					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	29	all_cancers(95;0.000888)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0146)		CAACACACATCGTGACAGAGT	0.418000														30			14		0	0	0.003163	0	0
ST6GALNAC2	10610	broad.mit.edu	37	17	74566695	74566695	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:74566695G>A	uc002jsg.4	-	5	980	c.725C>T	c.(724-726)tCg>tTg	p.S242L		NM_006456	NP_006447	Q9UJ37	SIA7B_HUMAN	Homo sapiens ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1, 3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 2 (ST6GALNAC2), mRNA.	242					protein glycosylation	integral to Golgi membrane	sialyltransferase activity			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	11						CAGAATGGCCGATCTCAGCAT	0.587000														19			13		0	0	0.004007	0	0
RSPH1	89765	broad.mit.edu	37	21	43896032	43896032	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr21:43896032C>T	uc002zbg.3	-	7	958	c.853G>A	c.(853-855)Gag>Aag	p.E285K		NM_080860	NP_543136	Q8WYR4	RSPH1_HUMAN	Homo sapiens radial spoke head 1 homolog (Chlamydomonas) (RSPH1), mRNA.	285					meiosis	cytosol|nucleus				large_intestine(7)|lung(2)|ovary(1)|prostate(1)|stomach(1)	12						TAGCGGAACTCCTCCTGGTCA	0.622000														37			5		0	0	0.000602	0	0
DOCK8	81704	broad.mit.edu	37	9	406929	406929	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:406929G>A	uc003zgf.2	+	28	3503	c.3391_splice	c.e28-1	p.N1131_splice	DOCK8_uc022bcu.1_Splice_Site_p.N1063_splice|DOCK8_uc010mgv.3_Splice_Site_p.N1031_splice|DOCK8_uc010mgu.3_Splice_Site_p.N433_splice|DOCK8_uc003zgk.2_Splice_Site_p.N589_splice	NM_203447	NP_001180465	Q8NF50	DOCK8_HUMAN	Homo sapiens dedicator of cytokinesis 8 (DOCK8), transcript variant 1, mRNA.	1131					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		CGTTTCTGTAGAACTCAAGCT	0.537000														102			27		0	0	0.007291	0	0
ULK4	54986	broad.mit.edu	37	3	41942258	41942258	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:41942258C>T	uc003ckv.4	-	12	1447	c.1246G>A	c.(1246-1248)Gac>Aac	p.D416N	ULK4_uc003ckw.2_Missense_Mutation_p.D416N|ULK4_uc003ckx.1_Missense_Mutation_p.D416N	NM_017886	NP_060356	Q96C45	ULK4_HUMAN	Homo sapiens unc-51-like kinase 4 (C. elegans) (ULK4), mRNA.	416							ATP binding|protein serine/threonine kinase activity	p.T415T(1)		breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		AGATCTGAGTCCGTGTAGATA	0.423000														123			204		0	0	0.003610	0	0
SLCO6A1	133482	broad.mit.edu	37	5	101774462	101774462	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:101774462G>A	uc003knn.3	-	6	1307	c.1135C>T	c.(1135-1137)Ctg>Ttg	p.L379L	SLCO6A1_uc003kno.3_Intron|SLCO6A1_uc003knp.3_Silent_p.L379L|SLCO6A1_uc003knq.3_Silent_p.L317L	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 6A1 (SLCO6A1), mRNA.	379						integral to membrane|plasma membrane	transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		TTCTTCATCAGAATCTGaaat	0.274000														39			19		0	0	0.006122	0	0
CYTH4	27128	broad.mit.edu	37	22	37699361	37699361	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr22:37699361G>A	uc003arf.3	+	7	730	c.614G>A	c.(613-615)cGg>cAg	p.R205Q	CYTH4_uc003are.2_Missense_Mutation_p.R205Q|CYTH4_uc011amw.2_Missense_Mutation_p.R148Q	NM_013385	NP_037517	Q9UIA0	CYH4_HUMAN	Homo sapiens cytohesin 4 (CYTH4), mRNA.	205	SEC7.				regulation of ARF protein signal transduction|regulation of cell adhesion	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(2)|stomach(1)	15						CCCAACGTCCGGGACAGGCCG	0.612000														38			18		0	0	0.007413	0	0
ANKRD5	63926	broad.mit.edu	37	20	10019183	10019183	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr20:10019183C>T	uc002wno.3	+	2	627	c.234C>T	c.(232-234)gaC>gaT	p.D78D	LOC100131208_uc002wnn.2_Intron|ANKRD5_uc002wnp.3_Silent_p.D78D|ANKRD5_uc010gbz.3_5'UTR	NM_022096	NP_942093	Q9NU02	ANKR5_HUMAN	Homo sapiens ankyrin repeat domain 5 (ANKRD5), transcript variant 1, mRNA.	78							calcium ion binding			breast(2)|endometrium(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	37						ATGTGCAAGACCGAATGGGCT	0.443000														43			25		0	0	0.004656	0	0
ZNF827	152485	broad.mit.edu	37	4	146824293	146824293	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:146824293G>A	uc003ikn.3	-	1	166	c.118C>T	c.(118-120)Ccg>Tcg	p.P40S	ZNF827_uc003ikm.3_Missense_Mutation_p.P40S|ZNF827_uc010iox.3_Intron	NM_178835	NP_849157	Q17R98	ZN827_HUMAN	Homo sapiens zinc finger protein 827 (ZNF827), mRNA.	40					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)					GCTTCTGACGGAGTCTCTGAA	0.527000														60			25		0	0	0.002096	0	0
TSPAN7	7102	broad.mit.edu	37	X	38525469	38525469	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chrX:38525469C>T	uc011mkj.2	+	3	463	c.254C>T	c.(253-255)cCc>cTc	p.P85L	TSPAN7_uc004deg.4_Missense_Mutation_p.P59L|TSPAN7_uc011mkk.2_Missense_Mutation_p.P76L			P41732	TSN7_HUMAN	Homo sapiens tetraspanin 7 (TSPAN7), mRNA.	59					interspecies interaction between organisms	integral to plasma membrane				haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	11						ACAAATGCTCCCTATGTGCTC	0.502000														13			33		0	0	0.002836	0	0
SORL1	6653	broad.mit.edu	37	11	121414426	121414426	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:121414426G>A	uc001pxx.3	+	12	1984	c.1855G>A	c.(1855-1857)Gat>Aat	p.D619N		NM_003105	NP_003096	Q92673	SORL_HUMAN	Homo sapiens sortilin-related receptor, L(DLR class) A repeats containing (SORL1), mRNA.	619					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)		CAATGCCACGGATGCCTTGGG	0.512000														51			34		0	0	0.003755	0	0
CACNA1C	775	broad.mit.edu	37	12	2714934	2714934	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:2714934C>T	uc009zdu.1	+	24	3511	c.3198C>T	c.(3196-3198)atC>atT	p.I1066I	CACNA1C_uc001qkc.2_Silent_p.I1046I|CACNA1C_uc001qjz.2_Silent_p.I1046I|CACNA1C_uc001qkd.2_Silent_p.I1046I|CACNA1C_uc001qke.2_Silent_p.I1046I|CACNA1C_uc001qkf.2_Silent_p.I1046I|CACNA1C_uc009zdw.1_Silent_p.I1046I|CACNA1C_uc001qkg.2_Silent_p.I1046I|CACNA1C_uc001qkh.2_Silent_p.I1046I|CACNA1C_uc001qkl.2_Silent_p.I1066I|CACNA1C_uc001qkj.2_Silent_p.I1046I|CACNA1C_uc001qkk.2_Silent_p.I1046I|CACNA1C_uc001qkn.2_Silent_p.I1046I|CACNA1C_uc001qkm.2_Silent_p.I1046I|CACNA1C_uc001qko.2_Silent_p.I1066I|CACNA1C_uc001qkp.2_Silent_p.I1046I|CACNA1C_uc001qkq.2_Silent_p.I1046I|CACNA1C_uc001qku.2_Silent_p.I1046I|CACNA1C_uc001qkr.2_Silent_p.I1046I|CACNA1C_uc001qks.2_Silent_p.I1046I|CACNA1C_uc001qkt.2_Silent_p.I1046I|CACNA1C_uc009zdv.1_Silent_p.I1043I|CACNA1C_uc001qkb.2_Silent_p.I1046I|CACNA1C_uc001qka.1_Silent_p.I581I|CACNA1C_uc001qki.1_Silent_p.I782I	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA.	1066					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)	TTGCCTGCATCGGGGTCCAGC	0.552000														33			12		0	0	0.001368	0	0
AQR	9716	broad.mit.edu	37	15	35166930	35166930	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:35166930G>A	uc001ziv.3	-	28	3554	c.3373C>T	c.(3373-3375)Cgc>Tgc	p.R1125C		NM_014691	NP_055506	O60306	AQR_HUMAN	Homo sapiens aquarius homolog (mouse) (AQR), mRNA.	1125						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)		ACTCCAACGCGAACAAAGCGA	0.428000														52			10		0	0	0.006214	0	0
NFKB1	4790	broad.mit.edu	37	4	103459029	103459029	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:103459029C>T	uc011ceq.2	+	4	638	c.171C>T	c.(169-171)ttC>ttT	p.F57F	NFKB1_uc011cep.2_Silent_p.F58F	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.	57	RHD.				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	p.R57C(1)		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)	GATTTCGTTTCCGTTATGTAT	0.388000														70			16		0	0	0.006122	0	0
PTPRT	11122	broad.mit.edu	37	20	41306506	41306506	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr20:41306506C>T	uc002xkg.3	-	7	1337	c.1153_splice	c.e7+1	p.D385_splice	PTPRT_uc010ggj.3_Splice_Site_p.D385_splice	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	385					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)				AAAATCTTACCTGCACACTTG	0.532000														45			16		0	0	0.004990	0	0
ATP13A5	344905	broad.mit.edu	37	3	192993015	192993015	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:192993015C>T	uc011bsq.2	-	29	3473	c.3473G>A	c.(3472-3474)aGg>aAg	p.R1158K		NM_198505	NP_940907	Q4VNC0	AT135_HUMAN	Homo sapiens ATPase type 13A5 (ATP13A5), mRNA.	1158					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		TTGCCAAGTCCTATATTGACT	0.398000														62			35		0	0	0.004289	0	0
SOWAHB	345079	broad.mit.edu	37	4	77816851	77816852	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:77816851_77816852CC>TT	uc003hki.3	-	0	2151_2152	c.2151_2152GG>AA	c.(2149-2154)ggggaa>ggAAaa	p.E718K		NM_001029870	NP_001025041	A6NEL2	ANR56_HUMAN	Homo sapiens sosondowah ankyrin repeat domain family member B (SOWAHB), mRNA.	718																	TGCCATATTTCCCCAGAGGTAT	0.510000														133			58		0	0	0.004672	0	0
TTN	7273	broad.mit.edu	37	2	179640461	179640461	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:179640461C>T	uc021vsy.1	-	27	6355	c.6130G>A	c.(6130-6132)Gag>Aag	p.E2044K	TTN_uc021vsz.1_Missense_Mutation_p.E1998K|TTN_uc021vta.1_Missense_Mutation_p.E1998K|TTN_uc021vtb.1_Missense_Mutation_p.E1998K|TTN_uc002unb.2_Missense_Mutation_p.E2044K|AK123298_uc002unc.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	2044							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)			TCAGTTAACTCTTTGGTCCAG	0.433000														108			42		0	0	0.003610	0	0
ZFP112	7771	broad.mit.edu	37	19	44891250	44891250	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:44891250T>C	uc010xxa.2	-	3	1221	c.1178A>G	c.(1177-1179)aAc>aGc	p.N393S	ZFP112_uc010xwz.2_Intron|ZFP112_uc002ozd.4_Missense_Mutation_p.N386S	NM_152354	NP_689567	Q9UJU3	ZF112_HUMAN	Homo sapiens zinc finger protein 285 (ZNF285), mRNA.	679					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						GACAAGAAGGTTGGAGCTCTG	0.463000														40			16		0	0	0.004007	0	0
CYP2C9	1559	broad.mit.edu	37	10	96740948	96740948	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:96740948C>T	uc001kka.4	+	6	995	c.970C>T	c.(970-972)Cag>Tag	p.Q324*	CYP2C9_uc009xut.3_Nonsense_Mutation_p.Q322*	NM_000771	NP_000762	P11712	CP2C9_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 9 (CYP2C9), mRNA.	324					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)	AGCTAAAGTCCAGGAAGAGAT	0.463000														70			24		0	0	0.005443	0	0
OR51E2	81285	broad.mit.edu	37	11	4703274	4703274	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:4703274G>A	uc001lzk.2	-	1	912	c.668C>T	c.(667-669)aCg>aTg	p.T223M	OR51E2_uc021qcr.1_Missense_Mutation_p.T223M	NM_030774	NP_110401	Q9H255	O51E2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily E, member 2 (OR51E2), mRNA.	223					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3)	23		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2)		TTGCAGAACCGTTCGTATTAT	0.493000														53			19		0	0	0.008871	0	0
DENND2A	27147	broad.mit.edu	37	7	140221841	140221841	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:140221841C>T	uc010lnk.3	-	17	3245	c.2725G>A	c.(2725-2727)Gag>Aag	p.E909K	DENND2A_uc011kre.2_Non-coding_Transcript|DENND2A_uc010lnj.3_Missense_Mutation_p.E909K|DENND2A_uc003vvw.3_Missense_Mutation_p.E909K	NM_015689	NP_056504	Q9ULE3	DEN2A_HUMAN	Homo sapiens DENN/MADD domain containing 2A (DENND2A), mRNA.	909	dDENN.									breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					CCCACAATCTCCACGAAGAAG	0.592000														19			9		0	0	0.004482	0	0
DNAH17	8632	broad.mit.edu	37	17	76421531	76421532	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:76421531_76421532GG>AA	uc010dhp.2	-	79	13161_13162	c.13036_13037CC>TT	c.(13036-13038)ccc>TTc	p.P4346F	DNAH17_uc002jvq.3_Missense_Mutation_p.P631F|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)			CTTGTCCAGGGGCCACTCGTTC	0.594000														51			20		0	0	0.004672	0	0
CTCFL	140690	broad.mit.edu	37	20	56078656	56078656	+	Splice_Site	SNP	A	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr20:56078656A>T	uc010giw.1	-	10	1786	c.1675_splice	c.e10-1	p.I559_splice	CTCFL_uc010gix.1_Splice_Site_p.I559_splice|CTCFL_uc002xym.2_Splice_Site_p.I559_splice|CTCFL_uc010gjb.1_Splice_Site_p.I559_splice|CTCFL_uc010gja.1_Splice_Site_p.I509_splice|CTCFL_uc010gjc.1_Splice_Site_p.I559_splice|CTCFL_uc010gjd.1_Splice_Site_p.I559_splice|CTCFL_uc010gje.3_Splice_Site_p.I559_splice|CTCFL_uc010gjg.3_Splice_Site_p.I291_splice|CTCFL_uc010gjf.3_Splice_Site_p.I354_splice|CTCFL_uc010giu.3_Splice_Site|CTCFL_uc010giv.3_Splice_Site	NM_080618	NP_542185	Q8NI51	CTCFL_HUMAN	Homo sapiens CCCTC-binding factor (zinc finger protein)-like (CTCFL), mRNA.	559					DNA methylation involved in gamete generation|cell cycle|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			GTGCAGGTTAATCTGTCGGAG	0.527000														36			25		0	0	0.003330	0	0
RACGAP1P	83956	broad.mit.edu	37	12	45458636	45458636	+	RNA	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:45458636G>A	uc001rol.3	-	0		c.559C>T								Homo sapiens Rac GTPase activating protein 1 pseudogene (RACGAP1P), non-coding RNA.																		CCAAAGAAGAGTCGCAATCCA	0.438000														18			6		0	0	0.001984	0	0
FRS3	10817	broad.mit.edu	37	6	41738731	41738731	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:41738731G>A	uc003orc.1	-	6	1349	c.1105C>T	c.(1105-1107)Cca>Tca	p.P369S		NM_006653	NP_006644	O43559	FRS3_HUMAN	Homo sapiens fibroblast growth factor receptor substrate 3 (FRS3), mRNA.	369					fibroblast growth factor receptor signaling pathway	plasma membrane	fibroblast growth factor receptor binding|insulin receptor binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			TTCTGCAGTGGGGTCTCGTCC	0.667000														53			20		0	0	0.002299	0	0
NLRP7	199713	broad.mit.edu	37	19	55451034	55451034	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:55451034G>A	uc002qih.4	-	3	1229	c.1153C>T	c.(1153-1155)Ccc>Tcc	p.P385S	NLRP7_uc010esk.3_Missense_Mutation_p.P385S|NLRP7_uc002qig.4_Missense_Mutation_p.P385S|NLRP7_uc002qii.4_Missense_Mutation_p.P385S|NLRP7_uc010esl.3_Missense_Mutation_p.P413S	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN	Homo sapiens NLR family, pyrin domain containing 7 (NLRP7), transcript variant 2, mRNA.	385	NACHT.						ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		AGGCAGGTGGGGACCGGGTCC	0.701000														15			9		0	0	0.000978	0	0
PTPRB	5787	broad.mit.edu	37	12	70964929	70964929	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:70964929G>A	uc001swb.4	-	10	2623	c.2593C>T	c.(2593-2595)Cac>Tac	p.H865Y	PTPRB_uc010sto.2_Missense_Mutation_p.H865Y|PTPRB_uc010stp.2_Missense_Mutation_p.H775Y|PTPRB_uc001swc.4_Missense_Mutation_p.H1083Y|PTPRB_uc001swa.4_Missense_Mutation_p.H995Y|PTPRB_uc001swd.4_Missense_Mutation_p.H1082Y|PTPRB_uc009zrr.2_Missense_Mutation_p.H962Y	NM_002837	NP_002828	P23467	PTPRB_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA.	865	Fibronectin type-III 10.				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)			TTTACAAGGTGAAAAGGAGGA	0.458000														36			17		0	0	0.004990	0	0
CD72	971	broad.mit.edu	37	9	35618284	35618284	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:35618284G>A	uc003zxb.2	-	0	141	c.17C>T	c.(16-18)aCc>aTc	p.T6I	CD72_uc010mkt.1_5'UTR|CD72_uc010mku.2_Missense_Mutation_p.T6I|CD72_uc010mkv.2_Missense_Mutation_p.T6I|CD72_uc010mkw.1_Intron	NM_001782	NP_001773	P21854	CD72_HUMAN	Homo sapiens CD72 molecule (CD72), mRNA.	6					axon guidance|cell adhesion	integral to plasma membrane	receptor binding|sugar binding|transmembrane receptor activity	p.T6T(1)		large_intestine(5)|liver(1)|lung(6)	12			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			ATCTGCATAGGTGATGGCCTC	0.577000														24			16		0	0	0.001523	0	0
CSMD2	114784	broad.mit.edu	37	1	34164353	34164353	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:34164353C>T	uc001bxm.1	-	24	4102	c.3925_splice	c.e24+1	p.A1309_splice	CSMD2_uc001bxn.1_Splice_Site_p.A1269_splice|CSMD2_uc001bxo.1_Splice_Site_p.A182_splice	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	1269	CUB 8.					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)				GCCCTCCTACCGACACAGGTG	0.612000														70			5		0	0	0.000602	0	0
KCNC3	3748	broad.mit.edu	37	19	50823902	50823902	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:50823902G>A	uc002pru.1	-	2	2413	c.2118C>T	c.(2116-2118)gcC>gcT	p.A706A	KCNC3_uc002prt.1_Silent_p.A342A	NM_004977	NP_004968	Q14003	KCNC3_HUMAN	Homo sapiens potassium voltage-gated channel, Shaw-related subfamily, member 3 (KCNC3), mRNA.	706					cell death	voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(2)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)	13		all_neural(266;0.057)|Ovarian(192;0.208)		OV - Ovarian serous cystadenocarcinoma(262;0.00283)|GBM - Glioblastoma multiforme(134;0.0181)		GGAGGAAGCAGGCTCGGTCCC	0.652000														32			11		0	0	0.008291	0	0
MEX3C	51320	broad.mit.edu	37	18	48703876	48703876	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr18:48703876G>A	uc002lfc.4	-	1	1186	c.825C>T	c.(823-825)ccC>ccT	p.P275P		NM_016626	NP_057710	Q5U5Q3	MEX3C_HUMAN	Homo sapiens mex-3 homolog C (C. elegans) (MEX3C), mRNA.	275	KH 1.					cytoplasm|nucleus	RNA binding|zinc ion binding			endometrium(2)|large_intestine(2)|lung(11)|ovary(1)|skin(1)	17		Colorectal(6;0.003)|all_epithelial(6;0.0473)		Colorectal(16;0.0175)|READ - Rectum adenocarcinoma(32;0.15)		CAACAAAAATGGGCTCTTCAC	0.418000														88			36		0	0	0.003755	0	0
HLA-J	3137	broad.mit.edu	37	6	29857557	29857557	+	Silent	SNP	T	C	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:29857557T>C	uc021ytx.1	+	1	351	c.333T>C	c.(331-333)acT>acC	p.T111T	HLA-G_uc021ytw.1_Intron|HLA-G_uc011dmb.2_Intron|HLA-J_uc021yty.1_Intron					Homo sapiens major histocompatibility complex, class I, H (pseudogene) (HLA-H), non-coding RNA.																		CTGTGGTCACTGGAGCTGTGG	0.557000														21			9		0	0	0.008291	0	0
CYP3A4	1576	broad.mit.edu	37	7	99381677	99381677	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:99381677C>T	uc003urv.2	-	0	135	c.28G>A	c.(28-30)Gaa>Aaa	p.E10K	CYP3A4_uc003urw.2_Missense_Mutation_p.E10K|CYP3A4_uc011kiz.2_Missense_Mutation_p.E10K	NM_017460	NP_059488	P08684	CP3A4_HUMAN	Homo sapiens cytochrome P450, family 3, subfamily A, polypeptide 4 (CYP3A4), transcript variant 1, mRNA.	10					alkaloid catabolic process|androgen metabolic process|exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid catabolic process|xenobiotic metabolic process	cell surface|endoplasmic reticulum membrane|integral to membrane|microsome	albendazole monooxygenase activity|caffeine oxidase activity|electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding|quinine 3-monooxygenase activity|steroid binding|taurochenodeoxycholate 6alpha-hydroxylase activity|testosterone 6-beta-hydroxylase activity|vitamin D 24-hydroxylase activity|vitamin D3 25-hydroxylase activity	p.M9V(1)		breast(3)|central_nervous_system(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)				Albendazole(DB00518)|Alclometasone(DB00240)|Alfentanil(DB00802)|Alfuzosin(DB00346)|Aliskiren(DB01258)|Almotriptan(DB00918)|Alosetron(DB00969)|Alprazolam(DB00404)|Amlodipine(DB00381)|Amprenavir(DB00701)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Benazepril(DB00542)|Bepridil(DB01244)|Betamethasone(DB00443)|Bexarotene(DB00307)|Bortezomib(DB00188)|Bosentan(DB00559)|Bromocriptine(DB01200)|Budesonide(DB01222)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Buspirone(DB00490)|Busulfan(DB01008)|Carbamazepine(DB00564)|Cevimeline(DB00185)|Chlorpheniramine(DB01114)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cinacalcet(DB01012)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clindamycin(DB01190)|Clofibrate(DB00636)|Clonazepam(DB01068)|Clopidogrel(DB00758)|Cocaine(DB00907)|Conivaptan(DB00872)|Conjugated Estrogens(DB00286)|Cyproterone(DB04839)|Darifenacin(DB00496)|Darunavir(DB01264)|Dasatinib(DB01254)|Delavirdine(DB00705)|Desogestrel(DB00304)|Dexamethasone(DB01234)|Diazepam(DB00829)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dofetilide(DB00204)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Doxorubicin(DB00997)|Drospirenone(DB01395)|Dutasteride(DB01126)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enalapril(DB00584)|Epirubicin(DB00445)|Eplerenone(DB00700)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Ethosuximide(DB00593)|Etonogestrel(DB00294)|Etoposide(DB00773)|Etoricoxib(DB01628)|Exemestane(DB00990)|Felodipine(DB01023)|Fentanyl(DB00813)|Fexofenadine(DB00950)|Finasteride(DB01216)|Fluconazole(DB00196)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Fosamprenavir(DB01319)|Fulvestrant(DB00947)|Galantamine(DB00674)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Granisetron(DB00889)|Grepafloxacin(DB00365)|Halofantrine(DB01218)|Hydrocodone(DB00956)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Hydromorphone(DB00327)|Imatinib(DB00619)|Indinavir(DB00224)|Ipratropium(DB00332)|Irinotecan(DB00762)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Isradipine(DB00270)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Letrozole(DB01006)|Levobupivacaine(DB01002)|Levomethadyl Acetate(DB01227)|Levothyroxine(DB00451)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Maraviroc(DB04835)|Marinol(DB00470)|Mebendazole(DB00643)|Medroxyprogesterone(DB00603)|Methadone(DB00333)|Methylprednisolone(DB00959)|Metyrapone(DB01011)|Mibefradil(DB01388)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirtazapine(DB00370)|Modafinil(DB00745)|Mometasone(DB00764)|Montelukast(DB00471)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norgestrel(DB00506)|Nystatin(DB00646)|Ondansetron(DB00904)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Paricalcitol(DB00910)|Phenmetrazine(DB00830)|Pimecrolimus(DB00337)|Pimozide(DB01100)|Pioglitazone(DB01132)|Posaconazole(DB01263)|Pranlukast(DB01411)|Prednisolone(DB00860)|Prednisone(DB00635)|Prochlorperazine(DB00433)|Quetiapine(DB01224)|Quinapril(DB00881)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranolazine(DB00243)|Reboxetine(DB00234)|Retapamulin(DB01256)|Rifabutin(DB00615)|Rifampin(DB01045)|Rimonabant(DB06155)|Ritonavir(DB00503)|Rofecoxib(DB00533)|Roxithromycin(DB00778)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sertindole(DB06144)|Sibutramine(DB01105)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|Solifenacin(DB01591)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tadalafil(DB00820)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Terconazole(DB00251)|Terfenadine(DB00342)|Testosterone(DB00624)|Tiagabine(DB00906)|Ticlopidine(DB00208)|Tinidazole(DB00911)|Tiotropium(DB01409)|Tipranavir(DB00932)|Toremifene(DB00539)|Triazolam(DB00897)|Trimetrexate(DB01157)|Troglitazone(DB00197)|Valdecoxib(DB00580)|Vardenafil(DB00862)|Vinblastine(DB00570)|Vincristine(DB00541)|Vindesine(DB00309)|Vinorelbine(DB00361)|Voriconazole(DB00582)|Zaleplon(DB00962)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolpidem(DB00425)|Zonisamide(DB00909)	AGCCAGGTTTCCATGGCCAAG	0.507000														44			31		0	0	0.004878	0	0
SERPINB3	6317	broad.mit.edu	37	18	61308203	61308203	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr18:61308203T>A	uc002ljf.3	-	4	460	c.374A>T	c.(373-375)aAa>aTa	p.K125I	SERPINB3_uc002lje.3_Missense_Mutation_p.K125I|SERPINB3_uc002ljg.3_Intron	NM_002974	NP_002965	P29508	SPB3_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 4 (SERPINB4), mRNA.	125					regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity	p.K125T(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						CTGGTAAAATTTCTTGATGGC	0.343000														57			27		0	0	0.006320	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37482000	37482000	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:37482000G>A	uc021ppc.1	+	25	2452	c.2353G>A	c.(2353-2355)Gat>Aat	p.D785N	ANKRD30A_uc001iza.1_Missense_Mutation_p.D785N	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	841						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						AGAGTCTCCTGATAATGATGG	0.294000														103			30		0	0	0.002836	0	0
TRIM67	440730	broad.mit.edu	37	1	231339636	231339636	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:231339636C>T	uc009xfn.1	+	5	1600	c.1558C>T	c.(1558-1560)Ctg>Ttg	p.L520L		NM_001004342	NP_001004342	Q6ZTA4	TRI67_HUMAN	Homo sapiens tripartite motif containing 67 (TRIM67), mRNA.	520	Fibronectin type-III.					cytoplasm|cytoskeleton	zinc ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)				CCTACTGCAGCTGGAGAAATG	0.667000														18			7		0	0	0.003080	0	0
DMBT1	1755	broad.mit.edu	37	10	124389817	124389817	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:124389817C>T	uc001lgk.1	+	44	5555	c.5449C>T	c.(5449-5451)Cat>Tat	p.H1817Y	DMBT1_uc001lgl.1_Missense_Mutation_p.H1807Y|DMBT1_uc001lgm.1_Missense_Mutation_p.H1189Y|DMBT1_uc021qaf.1_Missense_Mutation_p.H1817Y|DMBT1_uc021qag.1_Missense_Mutation_p.H1807Y|DMBT1_uc021qah.1_Missense_Mutation_p.H1189Y|DMBT1_uc009xzz.1_Missense_Mutation_p.H1817Y|DMBT1_uc010qtx.1_Missense_Mutation_p.H537Y|DMBT1_uc009yab.1_Missense_Mutation_p.H520Y|DMBT1_uc009yac.1_Missense_Mutation_p.H111Y	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.	1817	CUB 1.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|calcium-dependent protein binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GGAGGCACACCATAACTGCAG	0.373000														39			18		0	0	0.007413	0	0
HAGH	3029	broad.mit.edu	37	16	1859771	1859771	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:1859771G>A	uc002cna.3	-	7	1218	c.811C>T	c.(811-813)Ccc>Tcc	p.P271S	HAGH_uc002cmz.3_Missense_Mutation_p.P223S|HAGH_uc010uvp.2_Silent_p.T234T	NM_005326	NP_001035517	Q16775	GLO2_HUMAN	Homo sapiens hydroxyacylglutathione hydrolase (HAGH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	271					glutathione biosynthetic process	cytoplasm|mitochondrial matrix	hydroxyacylglutathione hydrolase activity|zinc ion binding			kidney(2)|lung(1)|ovary(1)|skin(1)	5		Hepatocellular(780;0.00335)			Glutathione(DB00143)	CTCATGAAGGGGTTGTAGGTA	0.617000														48			12		0	0	0.002450	0	0
APBA1	320	broad.mit.edu	37	9	72130931	72130931	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:72130931C>T	uc004ahh.2	-	1	1472	c.1196G>A	c.(1195-1197)gGa>gAa	p.G399E		NM_001163	NP_001154	Q02410	APBA1_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family A, member 1 (APBA1), mRNA.	399	LIN-2/CASK binding.|Pro-rich.				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						ACTTACATCTCCGTCCATCGG	0.632000														55			31		0	0	0.003271	0	0
POTEC	388468	broad.mit.edu	37	18	14524953	14524953	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr18:14524953C>T	uc010dln.3	-	6	1610	c.1156G>A	c.(1156-1158)Gag>Aag	p.E386K	POTEC_uc010xaj.2_Intron	NM_001137671	NP_001131143	B2RU33	POTEC_HUMAN	Homo sapiens POTE ankyrin domain family, member C (POTEC), mRNA.	386								p.E385*(1)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						CTTTGTGACTCTTCCTCTGAT	0.303000														62			19		0	0	0.001882	0	0
KIAA1429	25962	broad.mit.edu	37	8	95500960	95500960	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:95500960G>A	uc003ygo.2	-	23	5484	c.5413C>T	c.(5413-5415)Cgt>Tgt	p.R1805C	KIAA1429_uc010maz.2_Non-coding_Transcript	NM_015496	NP_056311	Q69YN4	VIR_HUMAN	Homo sapiens KIAA1429 (KIAA1429), transcript variant 1, mRNA.	1805					RNA splicing|mRNA processing	nucleus				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			CGTACATGACGACCTCTACCA	0.448000														87			44		0	0	0.003610	0	0
NCOR1	9611	broad.mit.edu	37	17	16097819	16097819	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:16097819G>A	uc002gpo.3	-	1	334	c.65C>T	c.(64-66)cCt>cTt	p.P22L	NCOR1_uc002gpn.3_Missense_Mutation_p.P22L|NCOR1_uc002gpp.1_Missense_Mutation_p.P22L|NCOR1_uc002gpr.3_Missense_Mutation_p.P22L|NCOR1_uc002gps.2_Missense_Mutation_p.P22L|NCOR1_uc010cpb.2_Missense_Mutation_p.P22L|NCOR1_uc010coz.2_5'UTR|NCOR1_uc010cpa.2_Missense_Mutation_p.P22L|NCOR1_uc002gpu.3_Missense_Mutation_p.P22L	NM_006311	NP_006302	O75376	NCOR1_HUMAN	Homo sapiens nuclear receptor corepressor 1 (NCOR1), transcript variant 1, mRNA.	22	Interaction with ZBTB33 and HEXIM1.				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		GACAGAGTGAGGAGGATAACG	0.423000														21			6		0	0	0.003080	0	0
MYH14	79784	broad.mit.edu	37	19	50784936	50784936	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:50784936C>T	uc010enu.1	+	32	4423	c.4376C>T	c.(4375-4377)gCc>gTc	p.A1459V	MYH14_uc002prq.1_Missense_Mutation_p.A1426V|MYH14_uc002prr.1_Missense_Mutation_p.A1418V|MYH14_uc010ycb.2_Intron	NM_001145809	NP_001139281	Q7Z406	MYH14_HUMAN	Homo sapiens myosin, heavy chain 14, non-muscle (MYH14), transcript variant 3, mRNA.	1418					axon guidance|regulation of cell shape	myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		GCCCGGGAGGCCGAGGCCCTG	0.736000														15			6		0	0	0.001984	0	0
TRPC7	57113	broad.mit.edu	37	5	135692979	135692979	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:135692979A>G	uc003lbn.2	-	1	319	c.97T>C	c.(97-99)Ttc>Ctc	p.F33L	TRPC7_uc010jef.2_Missense_Mutation_p.F24L|TRPC7_uc010jeg.2_Non-coding_Transcript|TRPC7_uc010jej.2_5'UTR|TRPC7_uc010jeh.2_Missense_Mutation_p.F33L|TRPC7_uc010jei.2_Missense_Mutation_p.F33L	NM_020389	NP_065122	Q9HCX4	TRPC7_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 7 (TRPC7), transcript variant 1, mRNA.	33					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TTCTCGTTGAACATGTAGGCG	0.612000														71			32		0	0	0.008361	0	0
ABCC6	368	broad.mit.edu	37	16	16259567	16259567	+	Silent	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:16259567G>A	uc002den.4	-	22	3256	c.3219C>T	c.(3217-3219)ctC>ctT	p.L1073L	ABCC6_uc010bvo.3_Non-coding_Transcript	NM_001171	NP_001162	O95255	MRP6_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 6 (ABCC6), transcript variant 1, mRNA.	1073	ABC transmembrane type-1 2.				response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		TGACCTCCAGGAGTCCAAAGG	0.582000														29			16		0	0	0.006122	0	0
MAPK7	5598	broad.mit.edu	37	17	19284546	19284546	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:19284546C>T	uc002gvn.3	+	3	1410	c.1024C>T	c.(1024-1026)Ctt>Ttt	p.L342F	MAPK7_uc002gvo.3_Missense_Mutation_p.L203F|MAPK7_uc002gvq.3_Missense_Mutation_p.L342F|MAPK7_uc002gvp.3_Missense_Mutation_p.L342F	NM_139033	NP_620601	Q13164	MK07_HUMAN	Homo sapiens mitogen-activated protein kinase 7 (MAPK7), transcript variant 1, mRNA.	342	Necessary for oligomerization (By similarity).|Protein kinase.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|cell cycle|cell differentiation|innate immune response|nerve growth factor receptor signaling pathway|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|nucleoplasm	ATP binding|MAP kinase activity|protein binding			autonomic_ganglia(1)|central_nervous_system(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(9)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	30	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					AGCTGCTGCCCTTCGCCACCC	0.617000														41			10		0	0	0.000978	0	0
SKAP2	8935	broad.mit.edu	37	7	26766572	26766572	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:26766572T>A	uc003syc.3	-	6	816	c.523A>T	c.(523-525)Aac>Tac	p.N175Y	SKAP2_uc011jzi.2_Missense_Mutation_p.N3Y|SKAP2_uc011jzj.2_Missense_Mutation_p.N160Y	NM_003930	NP_003921	O75563	SKAP2_HUMAN	Homo sapiens src kinase associated phosphoprotein 2 (SKAP2), mRNA.	175	PH.				B cell activation|cell junction assembly|protein complex assembly|signal transduction	cytosol|plasma membrane	SH3/SH2 adaptor activity			haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(3)	17						CTTAGAGTGTTATTCATTCTG	0.318000														66			24		0	0	0.003330	0	0
REST	5978	broad.mit.edu	37	4	57777066	57777066	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:57777066G>A	uc003hch.3	+	1	609	c.262G>A	c.(262-264)Gaa>Aaa	p.E88K	REST_uc003hci.3_Missense_Mutation_p.E88K|REST_uc003hcj.1_Missense_Mutation_p.E88K|REST_uc010ihf.3_5'UTR	NM_005612	NP_005603	Q13127	REST_HUMAN	Homo sapiens RE1-silencing transcription factor (REST), transcript variant 1, mRNA.	88	Interaction with SIN3A.				cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent	cytoplasm|transcriptional repressor complex	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|zinc ion binding			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50	Glioma(25;0.08)|all_neural(26;0.181)					TTCAGATAGTGAAGAAGGAGA	0.458000														31			15		0	0	0.004007	0	0
FBXL4	26235	broad.mit.edu	37	6	99353320	99353320	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:99353320G>A	uc003ppf.1	-	4	1443	c.1085C>T	c.(1084-1086)tCt>tTt	p.S362F	FBXL4_uc003ppg.1_Missense_Mutation_p.S362F|FBXL4_uc003pph.1_5'UTR|FBXL4_uc010kcp.3_5'UTR	NM_012160	NP_036292	Q9UKA2	FBXL4_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 4 (FBXL4), mRNA.	362					ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	18		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)		BRCA - Breast invasive adenocarcinoma(108;0.0413)		TCCTGCAACAGAGATGAAGCC	0.408000														98			30		0	0	0.002836	0	0
SPANXE	171489	broad.mit.edu	37	X	140786537	140786537	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chrX:140786537C>T	uc004fbq.3	-	0	119	c.26G>A	c.(25-27)gGg>gAg	p.G9E		NM_145665	NP_663698	Q8TAD1	SPNXE_HUMAN	Homo sapiens SPANX family, member E (SPANXE), mRNA.	9						cytoplasm|nucleus						Acute lymphoblastic leukemia(192;7.65e-05)					CCTCTTCACCCCGCCGGCACT	0.502000														27			47		0	0	0.003610	0	0
ZNF43	7594	broad.mit.edu	37	19	21990993	21990993	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:21990993G>A	uc002nqj.3	-	3	1976	c.1846C>T	c.(1846-1848)Cat>Tat	p.H616Y	ZNF43_uc002nql.3_Missense_Mutation_p.H610Y|ZNF43_uc002nqm.3_Missense_Mutation_p.H610Y|ZNF43_uc010ecv.3_Missense_Mutation_p.H610Y|ZNF43_uc002nqk.3_Missense_Mutation_p.H546Y	NM_003423	NP_003414	P17038	ZNF43_HUMAN	Homo sapiens zinc finger protein 43 (ZNF43), mRNA.	616					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			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)		CCTCCAGTATGAATTTTTTTA	0.338000														20			4		0	0	0.000602	0	0
LOC440041	440041	broad.mit.edu	37	11	55065456	55065456	+	RNA	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:55065456C>T	uc021qjb.1	-	0		c.253G>A			LOC440041_uc001nhl.1_Non-coding_Transcript					Homo sapiens SPRY domain containing 5 pseudogene (LOC440041), non-coding RNA.																		CTTTGTCTCTCTGTGCATCCC	0.473000														13			7		0	0	0.001984	0	0
LRRC55	219527	broad.mit.edu	37	11	56949561	56949561	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:56949561C>T	uc001njl.2	+	0	341	c.194C>T	c.(193-195)tCc>tTc	p.S65F		NM_001005210	NP_001005210	Q6ZSA7	LRC55_HUMAN	Homo sapiens leucine rich repeat containing 55 (LRRC55), mRNA.	35	LRRNT.					integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2)	25						CTGCTGATCTCCCTCCTCTTG	0.647000														12			4		0	0	0.000248	0	0
FSIP2	401024	broad.mit.edu	37	2	186669973	186669973	+	Nonsense_Mutation	SNP	A	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:186669973A>T	uc002upl.3	+	16	16207	c.16207A>T	c.(16207-16209)Aaa>Taa	p.K5403*	FSIP2_uc002upm.3_Intron	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						CTTGGCTCTAAAACTTGCAAA	0.308000														137			41		0	0	0.007835	0	0
EIF5	1983	broad.mit.edu	37	14	103804740	103804740	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:103804740C>T	uc001ymt.3	+	5	1011	c.516C>T	c.(514-516)tcC>tcT	p.S172S	EIF5_uc001ymq.3_Silent_p.S172S|EIF5_uc001ymr.3_Silent_p.S172S|EIF5_uc001ymu.3_Silent_p.S172S	NM_183004	NP_892116	P55010	IF5_HUMAN	Homo sapiens eukaryotic translation initiation factor 5 (EIF5), transcript variant 2, mRNA.	172					RNA metabolic process|regulation of translational initiation	cytosol	GTP binding|GTPase activity|translation initiation factor activity			breast(3)|kidney(2)|large_intestine(3)|lung(5)|pancreas(2)|skin(2)|upper_aerodigestive_tract(1)	18		Melanoma(154;0.155)	Epithelial(46;0.182)			aaaATGGCTCCGTATCCAGCA	0.433000														7			4		0	0	0.000248	0	0
DLEU7	220107	broad.mit.edu	37	13	51417397	51417397	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr13:51417397G>A	uc001vez.3	-	0	489	c.386C>T	c.(385-387)tCg>tTg	p.S129L	DLEU7_uc001vex.2_Missense_Mutation_p.S129L|BC035769_uc001vey.3_Intron	NM_198989	NP_945340	Q6UYE1	LEU7_HUMAN	Homo sapiens deleted in lymphocytic leukemia, 7 (DLEU7), mRNA.	129													Acute lymphoblastic leukemia(7;1.03e-07)|Lung NSC(96;0.000818)|Breast(56;0.00122)|Prostate(109;0.0047)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;3.25e-08)		GACCAGCTCCGAAGTCGAGTC	0.716000														8			6		0	0	0.001984	0	0
CPLX2	10814	broad.mit.edu	37	5	175306946	175306946	+	Silent	SNP	C	T	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:175306946C>T	uc003mde.1	+	4	649	c.303C>T	c.(301-303)atC>atT	p.I101I	CPLX2_uc003mdf.1_Silent_p.I101I|CPLX2_uc021yib.1_5'Flank	NM_006650	NP_006641	Q6PUV4	CPLX2_HUMAN	Homo sapiens complexin 2 (CPLX2), transcript variant 1, mRNA.	101					mast cell degranulation|positive regulation of synaptic plasticity|vesicle docking involved in exocytosis	cytosol		p.I101I(3)		endometrium(3)|kidney(2)|lung(3)|ovary(2)	10	all_cancers(89;0.004)|Renal(175;0.000269)|Lung NSC(126;0.00441)|all_lung(126;0.00747)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			AGAAGGCCATCCCTGCGGGCT	0.627000														16			11		0	0	0.000978	0	0
JAK2	3717	broad.mit.edu	37	9	5044441	5044441	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:5044441G>A	uc010mhm.3	+	3	502	c.389G>A	c.(388-390)aGa>aAa	p.R130K	JAK2_uc003ziw.3_Missense_Mutation_p.R130K	NM_004972	NP_004963	O60674	JAK2_HUMAN	Homo sapiens Janus kinase 2 (JAK2), mRNA.	130	FERM.|Interaction with cytokine/interferon/growth hormone receptors (By similarity).				JAK-STAT cascade involved in growth hormone signaling pathway|STAT protein import into nucleus|actin filament polymerization|activation of JAK2 kinase activity|activation of caspase activity by protein phosphorylation|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of DNA binding|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein	caveola|cytoskeleton|cytosol|endomembrane system|nucleus	ATP binding|SH2 domain binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding		BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)		GGCAGCAACAGAGCCTATCGG	0.378000		1	"""T, Mis, O"""	"""ETV6, PCM1, BCR"""	"""ALL, AML, MPD,  CML"""				Polycythemia Vera, Familial					52			33		0	0	0.004289	0	0
RBM15	64783	broad.mit.edu	37	1	110883707	110883707	+	Frame_Shift_Del	DEL	T	-	-			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:110883707delT	uc001dzl.1	+	0	1763	c.1680delT	c.(1678-1680)cctfs	p.P560fs	RBM15_uc001dzm.1_Frame_Shift_Del_p.P560fs|LOC440600_uc001dzj.3_5'Flank|RBM15_uc021orn.1_Frame_Shift_Del_p.P560fs	NM_022768	NP_073605	Q96T37	RBM15_HUMAN	Homo sapiens RNA binding motif protein 15 (RBM15), transcript variant 1, mRNA.	560					interspecies interaction between organisms	nucleus	RNA binding|nucleotide binding|protein binding			ovary(3)	3		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)		CACCAGACCCTTTGAGGGGTG	0.552			T	MKL1	acute megakaryocytic leukemia								---	42	---	---	7	---					
DDX20	11218	broad.mit.edu	37	1	112309105	112309105	+	Frame_Shift_Del	DEL	T	-	-			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:112309105delT	uc001ebs.3	+	10	2416	c.2059delT	c.(2059-2061)tctfs	p.S687fs	DDX20_uc010owf.2_Frame_Shift_Del_p.S449fs|DDX20_uc001ebt.3_Frame_Shift_Del_p.S295fs	NM_007204	NP_009135	Q9UHI6	DDX20_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 20 (DDX20), mRNA.	687					assembly of spliceosomal tri-snRNP|ncRNA metabolic process	Cajal body|cytoskeleton|cytosol|spliceosomal complex	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding			endometrium(3)|kidney(7)|large_intestine(6)|lung(3)|pancreas(1)|prostate(1)	21		all_cancers(81;1.06e-05)|all_epithelial(167;7.36e-06)|all_lung(203;2.44e-05)|Lung NSC(69;4.15e-05)		Lung(183;0.0234)|Colorectal(144;0.0282)|all cancers(265;0.0614)|Epithelial(280;0.0999)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGACTCTGAATCTACGCCTGT	0.428													---	61	---	---	22	---					
DPP10	57628	broad.mit.edu	37	2	116510770	116510770	+	Frame_Shift_Del	DEL	T	-	-			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:116510770delT	uc002tle.3	+	10	1004	c.983delT	c.(982-984)gttfs	p.V328fs	DPP10_uc002tla.2_Frame_Shift_Del_p.V324fs|DPP10_uc002tlb.2_Frame_Shift_Del_p.V274fs|DPP10_uc002tlc.2_Frame_Shift_Del_p.V320fs|DPP10_uc002tlf.2_Frame_Shift_Del_p.V317fs	NM_001178034	NP_001171505	Q8N608	DPP10_HUMAN	Homo sapiens dipeptidyl-peptidase 10 (non-functional) (DPP10), transcript variant 3, mRNA.	324					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity	p.V327V(1)		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						ATCACTATGGTTAAATGGGTA	0.368													---	37	---	---	9	---					
TTC21B	79809	broad.mit.edu	37	2	166737216	166737216	+	Frame_Shift_Del	DEL	A	-	-			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:166737216delA	uc002udk.3	-	26	3911	c.3778delT	c.(3778-3780)tatfs	p.Y1260fs	TTC21B_uc002udj.2_Non-coding_Transcript	NM_024753	NP_079029	Q7Z4L5	TT21B_HUMAN	Homo sapiens tetratricopeptide repeat domain 21B (TTC21B), mRNA.	1260						cilium axoneme|cytoplasm|cytoskeleton	binding			breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						CGATTGCTATATTTCCATGCC	0.343													---	42	---	---	8	---					
GRK4	2868	broad.mit.edu	37	4	3015470	3015470	+	Frame_Shift_Del	DEL	A	-	-			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:3015470delA	uc003ggn.1	+	7	1111	c.656delA	c.(655-657)caafs	p.Q219fs	GRK4_uc003ggo.1_Frame_Shift_Del_p.Q219fs|GRK4_uc003ggp.1_Frame_Shift_Del_p.Q187fs|GRK4_uc003ggq.1_Frame_Shift_Del_p.Q187fs	NM_182982	NP_892027	P32298	GRK4_HUMAN	Homo sapiens G protein-coupled receptor kinase 4 (GRK4), transcript variant 1, mRNA.	219	Protein kinase.					cell cortex	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			lung(1)|upper_aerodigestive_tract(1)	2				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		AAAAAGCTACAAAAAAAAAGA	0.393													---	181	---	---	7	---					
CDKN2A	1029	broad.mit.edu	37	9	21971173	21971186	+	Frame_Shift_Del	DEL	AGCTCCGCCACTCG	-	-	rs121913382		TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:21971173_21971186delAGCTCCGCCACTCG	uc003zpk.3	-	1	478_491	c.172_185delCGAGTGGCGGAGCT	c.(172-186)cgagtggcggagctgfs	p.R58fs	MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.3_3'UTR|CDKN2A_uc010miu.3_Frame_Shift_Del_p.R58fs|CDKN2A_uc003zpl.3_Frame_Shift_Del_p.P72fs	NM_000077	NP_000068	P42771	CD2A1_HUMAN	Homo sapiens cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4) (CDKN2A), transcript variant 1, mRNA.	58			R -> Q (in dbSNP:rs36204273).		G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|Ras protein signal transduction|cell cycle arrest|cell cycle checkpoint|induction of apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|replicative senescence	cytosol|nucleus	NF-kappaB binding|cyclin-dependent protein kinase inhibitor activity|protein binding|protein kinase binding	p.0?(1315)|p.R58*(163)|p.?(45)|p.E61*(20)|p.M53_R58del(6)|p.A57V(5)|p.A57P(5)|p.L62del(4)|p.V59fs*61(4)|p.V59fs*82(4)|p.R58fs*59(4)|p.E61fs*49(4)|p.A60V(4)|p.E61fs*80(3)|p.R58fs*88(3)|p.P113L(3)|p.V59fs*63(2)|p.V59fs*60(2)|p.V59fs*45(2)|p.R58fs*62(2)|p.A60fs*86(2)|p.E61fs*50(2)|p.L62fs*86(2)|p.E61fs*54(2)|p.E61fs*55(2)|p.E61_L94del(2)|p.E61fs*59(2)|p.A57_R58>V*(2)|p.R58R(2)|p.M54fs*61(2)|p.R58Q(2)|p.A57fs*85(2)|p.A57T(2)|p.A60A(2)|p.A60E(2)|p.R58fs*61(2)|p.E61G(2)|p.V59M(2)|p.V59_G67del(2)|p.V59G(2)|p.A60fs*?(1)|p.G116fs*>53(1)|p.A57fs*62(1)|p.A57fs*63(1)|p.R58fs*89(1)|p.0(1)|p.P113fs*>61(1)|p.G55fs*86(1)|p.V28_V51del(1)|p.A60fs(1)|p.A57A(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		GAGCAGCAGCAGCTCCGCCACTCGGGCGCTGCCC	0.678	E61*(A375_SKIN)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			---	32	---	---	18	---					
SMC5	23137	broad.mit.edu	37	9	72892225	72892225	+	Splice_Site	DEL	G	-	-			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:72892225delG	uc004ahr.2	+	4	498	c.381_splice	c.e4-1	p.L127_splice		NM_015110	NP_055925	Q8IY18	SMC5_HUMAN	Homo sapiens structural maintenance of chromosomes 5 (SMC5), mRNA.	127					DNA recombination|DNA repair	chromosome|nucleus	ATP binding			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(4)	35						tttttaattaGGTTCAGGGCT	0.299													---	13	---	---	19	---					
SETX	23064	broad.mit.edu	37	9	135203954	135203958	+	Frame_Shift_Del	DEL	CACGG	-	-			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:135203954_135203958delCACGG	uc004cbk.3	-	9	3210_3214	c.3027_3031delCCGTG	c.(3025-3033)tcccgtggafs	p.S1009fs	SETX_uc004cbj.3_Frame_Shift_Del_p.S628fs|SETX_uc010mzt.3_Frame_Shift_Del_p.S628fs	NM_015046	NP_055861	Q7Z333	SETX_HUMAN	Homo sapiens senataxin (SETX), mRNA.	1009					RNA processing|cell death|double-strand break repair	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		ATAACCTGTCCACGGGAGGTATCTC	0.390													---	85	---	---	15	---					
FRMD4A	55691	broad.mit.edu	37	10	13699134	13699142	+	In_Frame_Del	DEL	CGCCCCCCG	-	-			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:13699134_13699142delCGCCCCCCG	uc001ims.3	-	21	2799_2807	c.2447_2455delCGGGGGGCG	c.(2446-2457)gcggggggcggt>ggt	p.AGG816del	FRMD4A_uc009xjf.1_In_Frame_Del_p.AGG816del	NM_018027	NP_060497	Q9P2Q2	FRM4A_HUMAN	Homo sapiens FERM domain containing 4A (FRMD4A), mRNA.	816						cytoplasm|cytoskeleton	binding			breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						AGGTACACAccgccccccgcgccccccgc	0.761													---	7	---	---	5	---					
TAF6L	10629	broad.mit.edu	37	11	62550287	62550298	+	Splice_Site	DEL	TTGGCTGGAAGG	-	-			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:62550287_62550298delTTGGCTGGAAGG	uc001nvc.3	+	9	1161	c.960_splice	c.e9+1	p.K320_splice		NM_006473	NP_006464	Q9Y6J9	TAF6L_HUMAN	Homo sapiens TAF6-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa (TAF6L), mRNA.	320					chromatin remodeling|histone H3 acetylation|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	STAGA complex|histone deacetylase complex	DNA binding|protein binding|transcription coactivator activity			endometrium(2)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1)	16						CTGCATGCTCTTGGCTGGAAGGTGAGCACCCT	0.533													---	50	---	---	7	---					
DPP3	10072	broad.mit.edu	37	11	66260612	66260612	+	Frame_Shift_Del	DEL	C	-	-			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:66260612delC	uc001oig.1	+	10	1320	c.1258delC	c.(1258-1260)cagfs	p.Q420fs	DPP3_uc001oif.1_Frame_Shift_Del_p.Q420fs|DPP3_uc010rpe.1_Frame_Shift_Del_p.Q409fs	NM_005700	NP_569710	Q9NY33	DPP3_HUMAN	Homo sapiens dipeptidyl-peptidase 3 (DPP3), transcript variant 1, mRNA.	420					proteolysis	cytoplasm	aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						CTACGCCACGCAGCGGGAGAA	0.597													---	31	---	---	9	---					
DDX12P	440081	broad.mit.edu	37	12	9572788	9572789	+	RNA	INS	-	GCACCTGGAT	GCACCTGGAT	rs11283012		TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:9572788_9572789insGCACCTGGAT	uc021qut.1	-	11		c.2350_2351insATCCAGGTGC			DDX12P_uc001qvx.4_Non-coding_Transcript|DDX12P_uc001qvy.1_5'Flank					Homo sapiens DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 12, pseudogene (DDX12P), non-coding RNA.																		GCATGACGCCCGCACCTGGAAT	0.550													---	5	---	---	3	---					
TDRD3	81550	broad.mit.edu	37	13	61084023	61084040	+	In_Frame_Del	DEL	CAGAAACCTGTTATGGGT	-	-	rs145444654		TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr13:61084023_61084040delCAGAAACCTGTTATGGGT	uc001vhz.4	+	8	1494_1511	c.706_723delCAGAAACCTGTTATGGGT	c.(706-723)cagaaacctgttatgggtdel	p.QKPVMG236del	TDRD3_uc010aef.2_In_Frame_Del_p.QKPVMG61del|TDRD3_uc001via.3_In_Frame_Del_p.QKPVMG236del|TDRD3_uc010aeg.3_In_Frame_Del_p.QKPVMG329del|TDRD3_uc001vib.4_In_Frame_Del_p.QKPVMG235del	NM_001146071	NP_110421	Q9H7E2	TDRD3_HUMAN	Homo sapiens tudor domain containing 3 (TDRD3), transcript variant 3, mRNA.	236					chromatin modification	cytoplasm|nucleus	chromatin binding|methylated histone residue binding|nucleic acid binding|transcription coactivator activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	40		Prostate(109;0.173)|Breast(118;0.174)		GBM - Glioblastoma multiforme(99;0.000291)		AAGCAATAAACAGAAACCTGTTATGGGTCCTCCTCTGA	0.394													---	83	---	---	10	---					
TMEM121	80757	broad.mit.edu	37	14	105996050	105996052	+	In_Frame_Del	DEL	GCC	-	-	rs5811180		TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:105996050_105996052delGCC	uc001yrp.1	+	1	1030_1032	c.879_881delGCC	c.(877-882)gtgccg>gtg	p.P299del	abParts_uc021ser.1_Intron|TMEM121_uc021ses.1_In_Frame_Del_p.P299del|BC033241_uc001yrr.3_5'Flank	NM_025268	NP_079544	Q9BTD3	TM121_HUMAN	Homo sapiens transmembrane protein 121 (TMEM121), mRNA.	299	Pro-rich.					integral to membrane				endometrium(2)|lung(1)	3		Melanoma(154;0.226)	OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0188)	Epithelial(152;0.0959)|all cancers(159;0.235)		GCAACTCGGTgccgccgccgccg	0.768													---	4	---	---	2	---					
NLRC3	197358	broad.mit.edu	37	16	3613464	3613464	+	Frame_Shift_Del	DEL	G	-	-			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:3613464delG	uc010btn.3	-	4	1885	c.1474delC	c.(1474-1476)ctcfs	p.L492fs		NM_178844	NP_849172	Q7RTR2	NLRC3_HUMAN	Homo sapiens NLR family, CARD domain containing 3 (NLRC3), mRNA.	492					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						AAATGCGTGAGGAAGCCCAGC	0.637													---	2	---	---	4	---					
MYBBP1A	10514	broad.mit.edu	37	17	4446299	4446299	+	Frame_Shift_Del	DEL	A	-	-			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:4446299delA	uc002fxz.4	-	19	2863	c.2801delT	c.(2800-2802)ttgfs	p.L934fs	MYBBP1A_uc002fyb.4_Frame_Shift_Del_p.L934fs|MYBBP1A_uc002fya.4_5'Flank|MYBBP1A_uc010vsa.2_5'UTR	NM_001105538	NP_001099008	Q9BQG0	MBB1A_HUMAN	Homo sapiens MYB binding protein (P160) 1a (MYBBP1A), transcript variant 1, mRNA.	934					nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NLS-dependent protein nuclear import complex|cytoplasm|nucleolus	DNA binding|DNA-directed DNA polymerase activity|transcription factor binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						GTTGCCCTTCAAGACCCGGAG	0.662													---	103	---	---	18	---					
ZNF221	7638	broad.mit.edu	37	19	44471164	44471171	+	Frame_Shift_Del	DEL	AAACCTTT	-	-			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:44471164_44471171delAAACCTTT	uc002oxx.2	+	5	1838_1845	c.1510_1517delAAACCTTT	c.(1510-1518)aaacctttcfs	p.K504fs	ZNF221_uc010ejb.1_Frame_Shift_Del_p.K504fs|ZNF221_uc010xws.1_Frame_Shift_Del_p.K504fs	NM_013359	NP_037491	Q9UK13	ZN221_HUMAN	Homo sapiens zinc finger protein 221 (ZNF221), mRNA.	504					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(11)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	30		Prostate(69;0.0352)				CAGTGGGGAAAAACCTTTCAAATGTGAA	0.447													---	49	---	---	15	---					
PES1	23481	broad.mit.edu	37	22	30973084	30973084	+	Frame_Shift_Del	DEL	G	-	-			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr22:30973084delG	uc003aij.2	-	14	1823	c.1716delC	c.(1714-1716)cacfs	p.H572fs	PES1_uc003aik.2_Frame_Shift_Del_p.H567fs|PES1_uc003aio.1_Frame_Shift_Del_p.H433fs|PES1_uc003ain.1_Frame_Shift_Del_p.H433fs	NM_014303	NP_055118	O00541	PESC_HUMAN	Homo sapiens pescadillo homolog 1, containing BRCT domain (zebrafish) (PES1), transcript variant 1, mRNA.	572	Required for 28S ribosomal RNA processing.				cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|regulation of cell cycle	PeBoW complex|chromosome|nucleoplasm|preribosome, large subunit precursor	protein binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	29						CCGCCTCATCGTGGGCTTTCC	0.632													---	78	---	---	15	---