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
HELQ	113510	broad.mit.edu	37	4	84376745	84376745	+	Silent	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr4:84376745G>A	uc003hom.3	-	0	281	c.102C>T	c.(100-102)ctC>ctT	p.L34L	HELQ_uc010ikb.3_Silent_p.L34L|HELQ_uc003hol.4_Non-coding_Transcript|HELQ_uc010ikc.3_Non-coding_Transcript|HELQ_uc003hon.1_5'UTR|HELQ_uc003hoo.1_Silent_p.L34L|HELQ_uc003hop.1_5'UTR|HELQ_uc003hoq.1_Silent_p.L34L|MRPS18C_uc003hor.4_5'Flank	NM_133636	NP_598375	Q8TDG4	HELQ_HUMAN	Homo sapiens helicase, POLQ-like (HELQ), mRNA.	34							ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2)	38						CTCCGGGCACGAGCTCGGCCG	0.617000								Other identified genes with known or suspected DNA repair function			OREG0016254	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		102			37		0	0	0.007835	0	0
KIR3DL2	3812	broad.mit.edu	37	19	55330026	55330026	+	Silent	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr19:55330026C>T	uc002qhl.4	+	2	390	c.327C>T	c.(325-327)ccC>ccT	p.P109P	KIR3DL2_uc010yfj.2_Intron|KIR3DL2_uc010yfk.1_Intron|KIR3DL2_uc021vbm.1_Silent_p.P109P|KIR3DL2_uc010esf.3_Intron|KIR3DL2_uc021vbo.1_Silent_p.P109P|KIR3DL2_uc002qhk.4_Silent_p.P109P			P43630	KI3L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1 (KIR3DL1), mRNA.	109					cellular defense response|regulation of immune response	integral to plasma membrane	receptor activity	p.P109P(2)		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)		GGTCGGCACCCAGCAACCCCG	0.602000														69			24		0	0	0.003330	0	0
ITK	3702	broad.mit.edu	37	5	156676015	156676015	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr5:156676015G>A	uc003lwo.1	+	15	1871	c.1789G>A	c.(1789-1791)Gag>Aag	p.E597K		NM_005546	NP_005537	Q08881	ITK_HUMAN	Homo sapiens IL2-inducible T-cell kinase (ITK), mRNA.	597	Protein kinase.				T cell receptor signaling pathway|cellular defense response|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	p.E597K(2)		breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	70	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CTGCTGGAAAGAGGTCAGTGG	0.522000			T	SYK	peripheral T-cell lymphoma									173			74		0	0	0.003610	0	0
FERMT3	83706	broad.mit.edu	37	11	63978105	63978105	+	Silent	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr11:63978105C>T	uc001nyl.2	+	2	332	c.183C>T	c.(181-183)gaC>gaT	p.D61D	FERMT3_uc001nym.2_Silent_p.D61D	NM_178443	NP_848537	Q86UX7	URP2_HUMAN	Homo sapiens fermitin family member 3 (FERMT3), transcript variant URP2LF, mRNA.	61					integrin activation|leukocyte cell-cell adhesion|platelet aggregation|regulation of cell-cell adhesion mediated by integrin	cell junction|cell projection|podosome	integrin binding			breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	18						ACTGGTCAGACCATGCTATTT	0.612000														86			29		0	0	0.004289	0	0
TTPAL	79183	broad.mit.edu	37	20	43108798	43108798	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr20:43108798G>A	uc002xmc.1	+	2	283	c.159G>A	c.(157-159)tgG>tgA	p.W53*	TTPAL_uc002xmd.1_Nonsense_Mutation_p.W53*|TTPAL_uc010ggr.1_5'UTR	NM_024331	NP_077307	Q9BTX7	TTPAL_HUMAN	Homo sapiens tocopherol (alpha) transfer protein-like (TTPAL), transcript variant 1, mRNA.	53						intracellular	transporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(2)|skin(5)	18						AGCCGGAATGGAGACTTCGAG	0.597000														13			9		0	0	0.006214	0	0
CCDC39	339829	broad.mit.edu	37	3	180377491	180377491	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr3:180377491C>T	uc010hxe.3	-	4	698	c.583G>A	c.(583-585)Gaa>Aaa	p.E195K	CCDC39_uc003fkn.3_Non-coding_Transcript	NM_181426	NP_852091	Q9UFE4	CCD39_HUMAN	Homo sapiens coiled-coil domain containing 39 (CCDC39), mRNA.	195					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)			TCTGTAAGTTCGTTGTCAAGT	0.308000														76			12		0	0	0.002450	0	0
MME	4311	broad.mit.edu	37	3	154886390	154886390	+	Silent	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr3:154886390C>T	uc010hvr.1	+	18	2101	c.1890C>T	c.(1888-1890)tcC>tcT	p.S630S	MME_uc003fab.1_Silent_p.S630S|MME_uc003fac.1_Silent_p.S630S|MME_uc003fad.1_Silent_p.S630S|MME_uc003fae.1_Silent_p.S630S	NM_007289	NP_009220	P08473	NEP_HUMAN	Homo sapiens membrane metallo-endopeptidase (MME), transcript variant 2b, mRNA.	630					cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)	GAAACTTTTCCTGGGACCTGG	0.403000														52			17		0	0	0.001882	0	0
CACNA1C	775	broad.mit.edu	37	12	2742834	2742834	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr12:2742834A>C	uc009zdu.1	+	30	4241	c.3928A>C	c.(3928-3930)Atc>Ctc	p.I1310L	CACNA1C_uc001qkc.2_Intron|CACNA1C_uc001qjz.2_Intron|CACNA1C_uc001qkd.2_Intron|CACNA1C_uc001qke.2_Intron|CACNA1C_uc001qkf.2_Intron|CACNA1C_uc009zdw.1_Intron|CACNA1C_uc001qkg.2_Intron|CACNA1C_uc001qkh.2_Intron|CACNA1C_uc001qkl.2_Missense_Mutation_p.I1310L|CACNA1C_uc001qkj.2_Missense_Mutation_p.I1290L|CACNA1C_uc001qkk.2_Missense_Mutation_p.I1290L|CACNA1C_uc001qkn.2_Intron|CACNA1C_uc001qkm.2_Intron|CACNA1C_uc001qko.2_Intron|CACNA1C_uc001qkp.2_Missense_Mutation_p.I1290L|CACNA1C_uc001qkq.2_Missense_Mutation_p.I1290L|CACNA1C_uc001qku.2_Intron|CACNA1C_uc001qkr.2_Missense_Mutation_p.I1290L|CACNA1C_uc001qks.2_Missense_Mutation_p.I1290L|CACNA1C_uc001qkt.2_Missense_Mutation_p.I1290L|CACNA1C_uc009zdv.1_Missense_Mutation_p.I1287L|CACNA1C_uc001qkb.2_Intron|CACNA1C_uc001qki.1_Missense_Mutation_p.I1026L	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA.	1310					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)	TGACTTCCTCATCGTAATTGG	0.458000														75			28		0	0	0.002836	0	0
SYVN1	84447	broad.mit.edu	37	11	64898200	64898201	+	Missense_Mutation	DNP	GG	TT	TT	rs143801580	byFrequency	TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr11:64898200_64898201GG>TT	uc001odb.3	-	10	1130_1131	c.1036_1037CC>AA	c.(1036-1038)ccg>AAg	p.P346K	SYVN1_uc001odc.3_Missense_Mutation_p.P346K|SYVN1_uc009yqc.3_Missense_Mutation_p.P295K	NM_172230	NP_757385	Q86TM6	SYVN1_HUMAN	Homo sapiens synovial apoptosis inhibitor 1, synoviolin (SYVN1), transcript variant 2, mRNA.	346	Pro-rich.				ER-associated protein catabolic process|response to stress	endoplasmic reticulum membrane|integral to membrane|nucleus	acid-amino acid ligase activity|protein binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						CGCAGGCTCCGGGGGTGGTGGT	0.688000														29			8		0	0	0.004672	0	0
ACTR1B	10120	broad.mit.edu	37	2	98275872	98275872	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr2:98275872C>T	uc002syb.2	-	3	466	c.258G>A	c.(256-258)atG>atA	p.M86I		NM_005735	NP_005726	P42025	ACTY_HUMAN	Homo sapiens ARP1 actin-related protein 1 homolog B, centractin beta (yeast) (ACTR1B), mRNA.	86						centrosome|dynactin complex	ATP binding|protein binding			endometrium(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	15						AGATGCGTTCCATGTCGTTCC	0.647000														108			59		0	0	0.003610	0	0
CUX1	1523	broad.mit.edu	37	7	101870752	101870752	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr7:101870752C>T	uc003uys.4	+	20	3396	c.3269C>T	c.(3268-3270)cCc>cTc	p.P1090L	CUX1_uc003uyw.3_Intron|CUX1_uc003uyv.3_Intron|CUX1_uc003uyt.3_Intron|CUX1_uc003uyu.3_Intron|CUX1_uc011kkn.2_Intron|CUX1_uc003uyx.4_Missense_Mutation_p.P1079L	NM_001202543	NP_001189472	P39880	CUX1_HUMAN	Homo sapiens cut-like homeobox 1 (CUX1), transcript variant 4, mRNA.	1079					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						CAGCCCTGTCCCCCCATCGAG	0.662000														18			18		0	0	0.006122	0	0
TRIM35	23087	broad.mit.edu	37	8	27151620	27151621	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr8:27151620_27151621CC>TT	uc003xfl.1	-	2	820_821	c.738_739GG>AA	c.(736-741)aaggag>aaAAag	p.E247K	TRIM35_uc010lup.1_Missense_Mutation_p.E215K|TRIM35_uc003xfm.1_Non-coding_Transcript	NM_171982	NP_741983	Q9UPQ4	TRI35_HUMAN	Homo sapiens tripartite motif containing 35 (TRIM35), transcript variant 2, mRNA.	247					apoptosis|induction of apoptosis|negative regulation of mitotic cell cycle	cytoplasm|nucleus	zinc ion binding			breast(1)|endometrium(6)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	14		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|Epithelial(17;9.34e-10)|Colorectal(74;0.141)		ACGTCGTCCTCCTTCATCTCCA	0.569000														44			14		0	0	0.004672	0	0
DNAH5	1767	broad.mit.edu	37	5	13850770	13850770	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr5:13850770G>A	uc003jfd.2	-	30	5147	c.5105C>T	c.(5104-5106)tCc>tTc	p.S1702F		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	1702	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)					CCCAGTAAGGGATTTCTGGCA	0.468000									Kartagener syndrome					28			11		0	0	0.001368	0	0
RASGRF1	5923	broad.mit.edu	37	15	79339128	79339128	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr15:79339128G>A	uc002beq.3	-	4	1213	c.838C>T	c.(838-840)Ccc>Tcc	p.P280S	RASGRF1_uc002bep.3_Missense_Mutation_p.P280S|RASGRF1_uc010blm.1_Missense_Mutation_p.P202S|RASGRF1_uc002ber.4_Missense_Mutation_p.P280S	NM_002891	NP_002882	Q13972	RGRF1_HUMAN	Homo sapiens Ras protein-specific guanine nucleotide-releasing factor 1 (RASGRF1), transcript variant 1, mRNA.	280	DH.				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						TGTGTGATGGGAGGCTTCTTG	0.592000														95			39		0	0	0.002522	0	0
DSC2	1824	broad.mit.edu	37	18	28669437	28669437	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr18:28669437G>A	uc002kwl.4	-	4	1049	c.595C>T	c.(595-597)Cgt>Tgt	p.R199C	DSC2_uc002kwk.4_Missense_Mutation_p.R199C	NM_024422	NP_077740	Q02487	DSC2_HUMAN	Homo sapiens desmocollin 2 (DSC2), transcript variant Dsc2a, mRNA.	199	Cadherin 1.				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			TCTACAGGACGAGTACAATAC	0.378000														31			23		0	0	0.003330	0	0
MICAL3	57553	broad.mit.edu	37	22	18301313	18301313	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr22:18301313G>A	uc002zng.4	-	25	4467	c.4114C>T	c.(4114-4116)Ccc>Tcc	p.P1372S	MICAL3_uc011agl.2_Missense_Mutation_p.P1288S|MICAL3_uc010gre.2_5'Flank	NM_015241	NP_056056	Q7RTP6	MICA3_HUMAN	Homo sapiens microtubule associated monoxygenase, calponin and LIM domain containing 3 (MICAL3), transcript variant 1, mRNA.	1372	Pro-rich.					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		TCATCCTGGGGGGACTTTTCA	0.642000														126			64		0	0	0.003610	0	0
RAB40B	10966	broad.mit.edu	37	17	80616413	80616413	+	Silent	SNP	G	A	A	rs142445256	byFrequency	TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr17:80616413G>A	uc002kft.3	-	4	645	c.519C>T	c.(517-519)atC>atT	p.I173I	RAB40B_uc002kfs.3_Non-coding_Transcript	NM_006822	NP_006813	Q12829	RB40B_HUMAN	Homo sapiens RAB40B, member RAS oncogene family (RAB40B), mRNA.	173					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(2)	10	Breast(20;0.00132)|all_neural(118;0.0952)	all_cancers(8;0.072)|all_epithelial(8;0.139)	BRCA - Breast invasive adenocarcinoma(99;0.0262)|OV - Ovarian serous cystadenocarcinoma(97;0.061)			GCAGCAGCACGATCCTGGCCA	0.657000														29			45		0	0	0.003610	0	0
C20orf166-AS1	253868	broad.mit.edu	37	20	61143613	61143613	+	RNA	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr20:61143613G>A	uc021wfy.1	-	0		c.270C>T			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.																		GGGCCACTTGGGACACTCAGC	0.662000														22			9		0	0	0.004482	0	0
METTL13	51603	broad.mit.edu	37	1	171761261	171761261	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr1:171761261C>T	uc001ghz.3	+	5	1926	c.1579C>T	c.(1579-1581)Ccc>Tcc	p.P527S	METTL13_uc001gia.3_Missense_Mutation_p.P441S|METTL13_uc001gib.3_Missense_Mutation_p.P371S|METTL13_uc010pml.2_Missense_Mutation_p.P526S|METTL13_uc001gic.1_5'Flank	NM_015935	NP_055770	Q8N6R0	MTL13_HUMAN	Homo sapiens methyltransferase like 13 (METTL13), transcript variant 1, mRNA.	527							methyltransferase activity|protein binding			breast(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(8)|lung(17)|stomach(3)	41						GGAGATCGATCCCTCCATGTT	0.567000														89			32		0	0	0.002096	0	0
CORO1C	23603	broad.mit.edu	37	12	109042615	109042615	+	Silent	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr12:109042615G>A	uc009zva.3	-	9	1279	c.1230C>T	c.(1228-1230)ttC>ttT	p.F410F	CORO1C_uc001tnj.3_Silent_p.F357F|CORO1C_uc010sxf.2_Silent_p.F320F	NM_014325	NP_055140	Q9ULV4	COR1C_HUMAN	Homo sapiens coronin, actin binding protein, 1C (CORO1C), transcript variant 1, mRNA.	357					actin cytoskeleton organization|phagocytosis|signal transduction	actin cytoskeleton	actin filament binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|skin(4)	24						GGTCATCTTGGAAAAGGTCAG	0.463000														44			19		0	0	0.002299	0	0
C14orf21	161424	broad.mit.edu	37	14	24774194	24774194	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr14:24774194C>T	uc001wol.1	+	9	1867	c.1804C>T	c.(1804-1806)Cga>Tga	p.R602*	C14orf21_uc001wom.1_Nonsense_Mutation_p.R153*	NM_174913	NP_777573	Q86U38	CN021_HUMAN	Homo sapiens chromosome 14 open reading frame 21 (C14orf21), mRNA.	602							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)		CCATGTGGCTCGAAATGTGGC	0.547000														27			16		0	0	0.004007	0	0
PCM1	5108	broad.mit.edu	37	8	17796417	17796417	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr8:17796417T>G	uc022asj.1	+	2	533	c.511T>G	c.(511-513)Tgt>Ggt	p.C171G	PCM1_uc003wyi.4_Missense_Mutation_p.C171G|PCM1_uc011kyh.2_Missense_Mutation_p.C171G|PCM1_uc003wyj.4_Missense_Mutation_p.C171G|PCM1_uc003wyg.2_Missense_Mutation_p.C171G|PCM1_uc003wyh.3_Missense_Mutation_p.C171G|PCM1_uc010lta.1_Missense_Mutation_p.C171G	NM_006197	NP_006188	Q15154	PCM1_HUMAN	Homo sapiens pericentriolar material 1 (PCM1), mRNA.	171					G2/M transition of mitotic cell cycle|centrosome organization|cilium assembly|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome	centriolar satellite|cytosol|nuclear membrane|pericentriolar material	identical protein binding		PCM1/JAK2(30)	breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	48				Colorectal(111;0.0789)		ATCAGCACAGTGTAAAGAGTT	0.443000			T	"""RET, JAK2"""	"""papillary thyroid, CML, MPD"""									36			21		0	0	0.001523	0	0
POGK	57645	broad.mit.edu	37	1	166818940	166818940	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr1:166818940G>A	uc001gdt.1	+	4	1244	c.1124G>A	c.(1123-1125)cGg>cAg	p.R375Q	POGK_uc010ple.1_Missense_Mutation_p.R290Q|POGK_uc010plf.1_Missense_Mutation_p.R257Q	NM_017542	NP_060012	Q9P215	POGK_HUMAN	Homo sapiens pogo transposable element with KRAB domain (POGK), mRNA.	375	DDE.				multicellular organismal development|regulation of transcription, DNA-dependent	nucleus	DNA binding			endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	22						GTGCCATCACGGGTAACTGTT	0.527000														28			24		0	0	0.003954	0	0
ABI1	10006	broad.mit.edu	37	10	27052863	27052863	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr10:27052863C>T	uc001isx.3	-	7	1071	c.847G>A	c.(847-849)Gga>Aga	p.G283R	ABI1_uc001itb.3_Missense_Mutation_p.G300R|ABI1_uc001ite.3_Intron|ABI1_uc010qdh.2_Intron|ABI1_uc010qdi.2_Intron|ABI1_uc001itc.3_Intron|ABI1_uc001isy.3_Intron|ABI1_uc001itd.3_Intron|ABI1_uc010qdj.2_Intron|ABI1_uc001ita.3_Intron|ABI1_uc010qdk.2_Intron|ABI1_uc001isz.3_Intron|ABI1_uc010qdg.2_Intron	NM_005470	NP_005461	Q8IZP0	ABI1_HUMAN	Homo sapiens abl-interactor 1 (ABI1), transcript variant 1, mRNA.	283	Pro-rich.				actin polymerization or depolymerization|cellular component movement|negative regulation of cell proliferation|peptidyl-tyrosine phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	cell junction|cytoskeleton|cytosol|endoplasmic reticulum|filopodium|growth cone|lamellipodium|nucleus|soluble fraction|synapse|synaptosome	cytoskeletal protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GGTGGAGCTCCAGAAGGAGGA	0.408000														63			22		0	0	0.004656	0	0
FLRT3	23767	broad.mit.edu	37	20	14307111	14307111	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr20:14307111G>A	uc021war.1	-	0	1042	c.1042C>T	c.(1042-1044)Ctc>Ttc	p.L348F	MACROD2_uc002wot.3_Intron|MACROD2_uc002wou.3_Intron|FLRT3_uc002wov.2_Missense_Mutation_p.L348F|FLRT3_uc002wow.2_Missense_Mutation_p.L348F	NM_198391	NP_938205	Q9NZU0	FLRT3_HUMAN	Homo sapiens fibronectin leucine rich transmembrane protein 3 (FLRT3), transcript variant 2, mRNA.	348	LRRCT.				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			breast(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Colorectal(1;0.0464)	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)		TCTGCATTGAGATCCTTAATA	0.483000														48			23		0	0	0.002299	0	0
LRTM2	654429	broad.mit.edu	37	12	1943665	1943665	+	Silent	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr12:1943665G>A	uc001qjt.2	+	4	1697	c.891G>A	c.(889-891)caG>caA	p.Q297Q	CACNA2D4_uc021qsx.1_Intron|CACNA2D4_uc009zds.2_Intron|CACNA2D4_uc009zdt.1_Intron|CACNA2D4_uc009zdr.2_Intron|LRTM2_uc001qju.2_Silent_p.Q297Q|LRTM2_uc010sdx.1_Silent_p.Q297Q|LRTM2_uc001qjv.2_Silent_p.Q59Q	NM_001039029	NP_001157398	Q8N967	LRTM2_HUMAN	Homo sapiens leucine-rich repeats and transmembrane domains 2 (LRTM2), transcript variant 1, mRNA.	297						integral to membrane				NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	20	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000834)			CACAGAAGCAGAGGCACCGGC	0.687000														31			16		0	0	0.004990	0	0
ZNF160	90338	broad.mit.edu	37	19	53572054	53572054	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr19:53572054G>A	uc010eqk.3	-	6	2149	c.1733C>T	c.(1732-1734)tCa>tTa	p.S578L	ZNF160_uc002qaq.4_Missense_Mutation_p.S578L|ZNF160_uc002qar.4_Missense_Mutation_p.S578L	NM_001102603	NP_942596	Q9HCG1	ZN160_HUMAN	Homo sapiens zinc finger protein 160 (ZNF160), transcript variant 3, mRNA.	578					hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	35				GBM - Glioblastoma multiforme(134;0.02)		TGCAAGTTGTGATGTTTGAGC	0.403000														63			24		0	0	0.001512	0	0
OR11L1	391189	broad.mit.edu	37	1	248004498	248004498	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr1:248004498C>T	uc001idn.1	-	0	701	c.701G>A	c.(700-702)cGg>cAg	p.R234Q		NM_001001959	NP_001001959	Q8NGX0	O11L1_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily L, member 1 (OR11L1), mRNA.	234					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R234Q(2)		NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GGTCTTTCTCCGGCCAGAGGT	0.502000														30			16		0	0	0.003163	0	0
ADAM18	8749	broad.mit.edu	37	8	39442827	39442827	+	Missense_Mutation	SNP	C	T	T	rs150907859	byFrequency	TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr8:39442827C>T	uc003xni.3	+	1	143	c.88C>T	c.(88-90)Cca>Tca	p.P30S	ADAM18_uc003xnh.3_Missense_Mutation_p.P30S|ADAM18_uc010lww.3_Non-coding_Transcript|ADAM18_uc010lwx.3_Missense_Mutation_p.P30S	NM_014237	NP_055052	Q9Y3Q7	ADA18_HUMAN	Homo sapiens ADAM metallopeptidase domain 18 (ADAM18), transcript variant 1, mRNA.	30					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)			TGTCACAGTTCCACGGAAGAT	0.343000														27			15		0	0	0.004990	0	0
SERPINA13	388007	broad.mit.edu	37	14	95109925	95109925	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr14:95109925G>A	uc001ydt.3	+	2	962	c.874G>A	c.(874-876)Gac>Aac	p.D292N						Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 13 (pseudogene) (SERPINA13), non-coding RNA.											endometrium(1)|large_intestine(1)|lung(9)|skin(1)	12						CTTCCTGCACGACCGTGAGCT	0.582000														27			12		0	0	0.001368	0	0
GPR112	139378	broad.mit.edu	37	X	135427792	135427792	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chrX:135427792G>A	uc004ezu.1	+	5	2218	c.1927G>A	c.(1927-1929)Gat>Aat	p.D643N	GPR112_uc010nsb.1_Missense_Mutation_p.D438N|GPR112_uc010nsc.1_Missense_Mutation_p.D410N	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA.	643					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)					ATCCACAACTGATGAAGCTGC	0.498000														14			28		0	0	0.002096	0	0
ZFP3	124961	broad.mit.edu	37	17	4995531	4995531	+	Silent	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr17:4995531G>A	uc002gaq.3	+	1	857	c.732G>A	c.(730-732)caG>caA	p.Q244Q	ZFP3_uc021tog.1_Silent_p.Q244Q	NM_153018	NP_694563	Q96NJ6	ZFP3_HUMAN	Homo sapiens zinc finger protein 3 homolog (mouse) (ZFP3), mRNA.	244					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(3)|prostate(1)	20						TTCTACACCAGAGAATCCATA	0.383000														34			11		0	0	0.001855	0	0
SLC22A2	6582	broad.mit.edu	37	6	160679618	160679618	+	Missense_Mutation	SNP	C	T	T	rs138397321		TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr6:160679618C>T	uc003qtf.3	-	0	346	c.172G>A	c.(172-174)Gag>Aag	p.E58K	SLC22A2_uc003qth.2_Missense_Mutation_p.E58K	NM_003058	NP_003049	O15244	S22A2_HUMAN	Homo sapiens solute carrier family 22 (organic cation transporter), member 2 (SLC22A2), mRNA.	58					body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion	integral to plasma membrane|membrane fraction	neurotransmitter transporter activity|organic cation transmembrane transporter activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)		AGACTCAGCTCGGCCACTCCG	0.672000														43			13		0	0	0.001855	0	0
CYP2C8	1558	broad.mit.edu	37	10	96824703	96824703	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr10:96824703G>A	uc001kkb.3	-	3	591	c.496C>T	c.(496-498)Ccc>Tcc	p.P166S	CYP2C8_uc010qoa.2_Missense_Mutation_p.P96S|CYP2C8_uc010qoc.2_Missense_Mutation_p.P64S|CYP2C8_uc001kkc.3_Non-coding_Transcript|CYP2C8_uc010qob.2_Missense_Mutation_p.P80S|CYP2C8_uc021pwl.1_Missense_Mutation_p.P96S|CYP2C8_uc010qod.1_Missense_Mutation_p.P80S	NM_000770	NP_000761	P10632	CP2C8_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 8 (CYP2C8), transcript variant 1, mRNA.	166					exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding	p.P166P(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21		Colorectal(252;0.0397)		all cancers(201;6.21e-05)	Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198)	ATGAAAGTGGGATCACAGGGT	0.308000														54			20		0	0	0.001882	0	0
CPNE4	131034	broad.mit.edu	37	3	131261456	131261456	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr3:131261456C>T	uc011blq.2	-	14	1648	c.1538G>A	c.(1537-1539)gGa>gAa	p.G513E	CPNE4_uc003eok.3_Missense_Mutation_p.G495E|CPNE4_uc003eol.3_Missense_Mutation_p.G513E|CPNE4_uc003eom.3_Missense_Mutation_p.G495E|CPNE4_uc003eoj.3_Missense_Mutation_p.G46E	NM_130808	NP_570720	Q96A23	CPNE4_HUMAN	Homo sapiens copine IV (CPNE4), mRNA.	495										central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	39						AACAGGCTCTCCCTTGGGTGA	0.517000														63			14		0	0	0.002450	0	0
BTN1A1	696	broad.mit.edu	37	6	26509342	26509342	+	Silent	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr6:26509342G>A	uc003nif.4	+	6	1578	c.1521G>A	c.(1519-1521)agG>agA	p.R507R		NM_001732	NP_001723	Q13410	BT1A1_HUMAN	Homo sapiens butyrophilin, subfamily 1, member A1 (BTN1A1), mRNA.	507						extracellular region|integral to plasma membrane	receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1)	26						CTGCCCCTAGGGATGCAGACA	0.527000														87			33		0	0	0.005524	0	0
EIF2C4	192670	broad.mit.edu	37	1	36292380	36292380	+	Silent	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr1:36292380G>A	uc001bzj.2	+	6	982	c.792G>A	c.(790-792)caG>caA	p.Q264Q		NM_017629	NP_060099	Q9HCK5	AGO4_HUMAN	Homo sapiens eukaryotic translation initiation factor 2C, 4 (EIF2C4), mRNA.	264	PAZ.				mRNA catabolic process|negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|cytosol	RNA binding|protein binding			breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				ACTGTGGACAGATGAAACGAA	0.343000														16			7		0	0	0.004482	0	0
MST1P2	11209	broad.mit.edu	37	1	16975495	16975495	+	Splice_Site	SNP	T	C	C			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr1:16975495T>C	uc009vox.3	+	4		c.1208_splice	c.e4+1		MST1P2_uc010och.2_Non-coding_Transcript|MST1P2_uc001azm.4_Non-coding_Transcript					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 2 (MST1P2), non-coding RNA.																		CTTGCGGAATTGGTGAGGCAC	0.612000														12			4		0	0	0.004482	0	0
TTN	7273	broad.mit.edu	37	2	179592541	179592541	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr2:179592541A>T	uc021vsy.1	-	64	16257	c.16032T>A	c.(16030-16032)gaT>gaA	p.D5344E	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.D2005E	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	6271	Ig-like 34.						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)			CCACTGTAGAATCAGGTATGG	0.353000														51			22		0	0	0.001523	0	0
YTHDC2	64848	broad.mit.edu	37	5	112917322	112917322	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr5:112917322C>T	uc003kqn.3	+	24	3765	c.3563C>T	c.(3562-3564)cCt>cTt	p.P1188L		NM_022828	NP_073739	Q9H6S0	YTDC2_HUMAN	Homo sapiens YTH domain containing 2 (YTHDC2), mRNA.	1188							ATP binding|ATP-dependent helicase activity|nucleic acid binding			NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		GAAGAGCTTCCTTTGGCCTCA	0.403000														15			8		0	0	0.004482	0	0
ANKS3	124401	broad.mit.edu	37	16	4774810	4774810	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr16:4774810G>A	uc002cxj.2	-	5	809	c.514C>T	c.(514-516)Ccc>Tcc	p.P172S	ANKS3_uc002cxi.2_Missense_Mutation_p.P99S|ANKS3_uc021tcj.1_Missense_Mutation_p.P43S|ANKS3_uc021tck.1_Missense_Mutation_p.P65S|ANKS3_uc002cxk.3_Missense_Mutation_p.P43S|ANKS3_uc010uxs.2_Missense_Mutation_p.P99S|ANKS3_uc002cxm.3_Intron	NM_133450	NP_597707	Q6ZW76	ANKS3_HUMAN	Homo sapiens ankyrin repeat and sterile alpha motif domain containing 3 (ANKS3), transcript variant 1, mRNA.	172										endometrium(5)|kidney(4)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	19						TCCATCAAGGGAGTAAATCCA	0.473000														21			11		0	0	0.001368	0	0
TTN	7273	broad.mit.edu	37	2	179542444	179542444	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr2:179542444G>A	uc021vsy.1	-	142	30688	c.30463C>T	c.(30463-30465)Cct>Tct	p.P10155S	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.P6816S|TTN_uc010fre.1_Intron|TTN_uc002una.1_Non-coding_Transcript|TTN_uc010frf.1_Non-coding_Transcript	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	11082	Glu-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTTCGGGAGGAACTTCCTCT	0.448000														55			28		0	0	0.007291	0	0
NPTX2	4885	broad.mit.edu	37	7	98257757	98257757	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr7:98257757G>A	uc003upl.2	+	4	1289	c.1112G>A	c.(1111-1113)gGg>gAg	p.G371E		NM_002523	NP_002514	P47972	NPTX2_HUMAN	Homo sapiens neuronal pentraxin II (NPTX2), mRNA.	371	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)			GCATTTGTCGGGGAGCTCAGC	0.572000														7			5		0	0	0.001168	0	0
THRB	7068	broad.mit.edu	37	3	24185134	24185134	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr3:24185134C>T	uc003ccz.4	-	8	1116	c.596G>A	c.(595-597)aGa>aAa	p.R199K	THRB_uc010hfe.3_Missense_Mutation_p.R199K|THRB_uc003ccy.4_Missense_Mutation_p.R199K|THRB_uc003ccx.4_Missense_Mutation_p.R199K	NM_001252634	NP_001239563	P10828	THB_HUMAN	Homo sapiens thyroid hormone receptor, beta (THRB), transcript variant 4, mRNA.	199					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	enzyme binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription corepressor activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(2)|prostate(1)|skin(3)	19					Levothyroxine(DB00451)|Liothyronine(DB00279)	TTCCCGCCGTCTTTTCTCCCG	0.572000														69			23		0	0	0.003954	0	0
OR8J1	219477	broad.mit.edu	37	11	56128428	56128428	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr11:56128428A>G	uc010rjh.2	+	0	738	c.706A>G	c.(706-708)Aaa>Gaa	p.K236E		NM_001005205	NP_001005205	Q8NGP2	OR8J1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily J, member 1 (OR8J1), mRNA.	236					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.K235T(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	47	Esophageal squamous(21;0.00448)					AGGAAGGAAAAAAGCCTTTTC	0.353000														50			22		0	0	0.001523	0	0
C1orf106	55765	broad.mit.edu	37	1	200869306	200869306	+	Silent	SNP	C	T	T	rs34596202	byFrequency	TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr1:200869306C>T	uc001gvo.3	+	3	552	c.510C>T	c.(508-510)atC>atT	p.I170I	C1orf106_uc010ppm.2_Silent_p.I85I	NM_018265	NP_001136041	Q3KP66	CA106_HUMAN	Homo sapiens chromosome 1 open reading frame 106 (C1orf106), transcript variant 1, mRNA.	170										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2)	21						GCCGCAGGATCGGAGCGGCTT	0.607000														25			38		0	0	0.002852	0	0
TBC1D1	23216	broad.mit.edu	37	4	38016200	38016200	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr4:38016200C>T	uc003gtb.3	+	2	846	c.488C>T	c.(487-489)tCc>tTc	p.S163F	TBC1D1_uc011byd.2_Missense_Mutation_p.S163F|TBC1D1_uc010ifd.3_Intron|TBC1D1_uc011byf.1_Missense_Mutation_p.S34F	NM_015173	NP_055988	Q86TI0	TBCD1_HUMAN	Homo sapiens TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1 (TBC1D1), transcript variant 1, mRNA.	163						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						CACTGCCCGTCCGAGTTCGAC	0.622000														68			41		0	0	0.002222	0	0
DRGX	644168	broad.mit.edu	37	10	50598203	50598203	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr10:50598203T>C	uc010qgq.2	-	2	225	c.225A>G	c.(223-225)atA>atG	p.I75M	DRGX_uc021pqd.1_Missense_Mutation_p.I70M	NM_001080520	NP_001073989	C9JW76	C9JW76_HUMAN	Homo sapiens dorsal root ganglia homeobox (DRGX), mRNA.	75					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)	11						CTGTGAGGTTTATTTTCATGG	0.388000														20			5		0	0	0.001168	0	0
FCGR3B	2215	broad.mit.edu	37	1	161594380	161594380	+	Silent	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr1:161594380G>A	uc009wul.3	-	4	995	c.735C>T	c.(733-735)gtC>gtT	p.V245V	FCGR3B_uc021pdo.1_Silent_p.V209V	NM_001244753	NP_001231682	O75015	FCG3B_HUMAN	Homo sapiens Fc fragment of IgG, low affinity IIIb, receptor (CD16b) (FCGR3B), transcript variant 1, mRNA.	209					immune response	anchored to membrane|extracellular region|plasma membrane	IgG binding|receptor activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	18	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	AGCAGAAAGAGACTTGGTACC	0.433000														35			18		0	0	0.001882	0	0
ABLIM2	84448	broad.mit.edu	37	4	8098853	8098853	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr4:8098853G>A	uc003gko.3	-	2	454	c.311C>T	c.(310-312)cCc>cTc	p.P104L	ABLIM2_uc003gkm.4_Missense_Mutation_p.P104L|ABLIM2_uc003gkp.3_Missense_Mutation_p.P104L|ABLIM2_uc003gkq.3_Missense_Mutation_p.P104L|ABLIM2_uc003gkr.3_Missense_Mutation_p.P104L|ABLIM2_uc003gkj.4_Missense_Mutation_p.P104L|ABLIM2_uc003gks.3_Missense_Mutation_p.P104L|ABLIM2_uc011bwl.1_Missense_Mutation_p.P109L	NM_001130084	NP_001123556	Q6H8Q1	ABLM2_HUMAN	Homo sapiens actin binding LIM protein family, member 2 (ABLIM2), transcript variant 2, mRNA.	104	LIM zinc-binding 2.				axon guidance|cytoskeleton organization	actin cytoskeleton|cytoplasm|intermediate filament cytoskeleton|nucleus	actin binding|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|pancreas(3)|prostate(2)|urinary_tract(1)	25						GAAGCAGTCGGGGTGGTAGGT	0.637000														7			3		0	0	0.000248	0	0
MTMR8	55613	broad.mit.edu	37	X	63574714	63574714	+	Silent	SNP	C	G	G			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chrX:63574714C>G	uc004dvs.3	-	3	501	c.411G>C	c.(409-411)ggG>ggC	p.G137G	MTMR8_uc011mou.2_Silent_p.G137G	NM_017677	NP_060147	Q96EF0	MTMR8_HUMAN	Homo sapiens myotubularin related protein 8 (MTMR8), mRNA.	137	Myotubularin phosphatase.					nuclear envelope	protein tyrosine phosphatase activity	p.0?(1)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						TTCCCATACGCCCAAAGTCTG	0.378000														8			15		0	0	0.003163	0	0
LFNG	3955	broad.mit.edu	37	7	2565089	2565089	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr7:2565089G>C	uc003smf.3	+	3	640	c.623G>C	c.(622-624)cGg>cCg	p.R208P	LFNG_uc021zyw.1_Missense_Mutation_p.R137P|LFNG_uc021zyx.1_Missense_Mutation_p.R79P|LFNG_uc003smg.3_Missense_Mutation_p.R208P|MIR4648_uc021zyy.1_5'Flank	NM_001040167	NP_001035257	Q8NES3	LFNG_HUMAN	Homo sapiens LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase (LFNG), transcript variant 1, mRNA.	208					organ morphogenesis	extracellular region|integral to Golgi membrane	O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)|urinary_tract(2)	6		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;2.54e-14)		GTCAACCTGCGGGCCCTGCTG	0.701000														19			10		0	0	0.000673	0	0
PREX2	80243	broad.mit.edu	37	8	69046410	69046410	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr8:69046410G>A	uc003xxv.1	+	31	3910	c.3883G>A	c.(3883-3885)Gaa>Aaa	p.E1295K		NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA.	1295					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						CAACAGCAAGGAAAATGAGAT	0.498000														54			24		0	0	0.003954	0	0
LOC285501	285501	broad.mit.edu	37	4	178881990	178881990	+	RNA	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr4:178881990G>A	uc010iru.3	+	2		c.449G>A								Homo sapiens uncharacterized LOC285501 (LOC285501), non-coding RNA.														all_lung(41;6.03e-08)|Lung NSC(41;4.26e-07)|Breast(14;0.00066)|Melanoma(52;0.00168)|Prostate(90;0.0129)|all_hematologic(60;0.0202)|Renal(120;0.0246)|Colorectal(36;0.0508)|Hepatocellular(41;0.236)		all cancers(43;9.24e-25)|Epithelial(43;6.28e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.29e-10)|LUSC - Lung squamous cell carcinoma(1;2.61e-05)|Lung(1;3.22e-05)|GBM - Glioblastoma multiforme(59;0.000185)|Colorectal(24;0.000244)|STAD - Stomach adenocarcinoma(60;0.000777)|COAD - Colon adenocarcinoma(29;0.000884)		GGGATCAAAAGAATCCACATC	0.338000														58			24		0	0	0.002780	0	0
OR5D18	219438	broad.mit.edu	37	11	55587134	55587134	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr11:55587134G>A	uc010rin.2	+	0	29	c.29G>A	c.(28-30)gGg>gAg	p.G10E		NM_001001952	NP_001001952	Q8NGL1	OR5DI_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 18 (OR5D18), mRNA.	10					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				AATACAAGTGGGACCACGTTC	0.423000														20			23		0	0	0.002780	0	0
FBXO6	26270	broad.mit.edu	37	1	11731999	11731999	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr1:11731999C>T	uc001aso.3	+	3	594	c.428C>T	c.(427-429)tCc>tTc	p.S143F		NM_018438	NP_060908	Q9NRD1	FBX6_HUMAN	Homo sapiens F-box protein 6 (FBXO6), mRNA.	143	FBA.			SQ -> WE (in Ref. 1; AAF04470).	DNA damage checkpoint|DNA repair|ER-associated protein catabolic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|response to unfolded protein	SCF ubiquitin ligase complex|cytoplasm	glycoprotein binding			breast(1)|large_intestine(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(2)	6	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.25e-06)|COAD - Colon adenocarcinoma(227;0.000251)|BRCA - Breast invasive adenocarcinoma(304;0.000297)|Kidney(185;0.000747)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)		TGCCTCAAGTCCCAGCTGGTG	0.627000														18			4		0	0	0.000248	0	0
FLT1	2321	broad.mit.edu	37	13	28919657	28919657	+	Silent	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr13:28919657G>A	uc001usb.3	-	15	2565	c.2280C>T	c.(2278-2280)atC>atT	p.I760I	FLT1_uc001usa.3_5'UTR	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.	760					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)	ATGTTAGAGTGATCAGCTCCA	0.413000														14			7		0	0	0.003080	0	0
CDS1	1040	broad.mit.edu	37	4	85530642	85530642	+	Silent	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr4:85530642G>A	uc011ccv.2	+	2	804	c.306G>A	c.(304-306)ctG>ctA	p.L102L		NM_001263	NP_001254	Q92903	CDS1_HUMAN	Homo sapiens CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 1 (CDS1), mRNA.	102					signal transduction|visual perception	endoplasmic reticulum membrane|integral to membrane	diacylglycerol cholinephosphotransferase activity|phosphatidate cytidylyltransferase activity	p.L102L(2)		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)		TGTTTTTCCTGATCATCTATA	0.343000														72			25		0	0	0.005443	0	0
CD5L	922	broad.mit.edu	37	1	157805633	157805633	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr1:157805633G>A	uc001frk.4	-	2	511	c.368C>T	c.(367-369)tCg>tTg	p.S123L		NM_005894	NP_005885	O43866	CD5L_HUMAN	Homo sapiens CD5 molecule-like (CD5L), mRNA.	123	SRCR 1.				apoptosis|cellular defense response	extracellular space|membrane	scavenger receptor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			ACTCTCACACGATGCCCCAGC	0.502000														62			76		0	0	0.003610	0	0
NARS2	79731	broad.mit.edu	37	11	78147748	78147748	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr11:78147748A>G	uc001ozi.3	-	13	1778	c.1402T>C	c.(1402-1404)Ttc>Ctc	p.F468L	NARS2_uc010rsq.2_Missense_Mutation_p.F241L	NM_024678	NP_001230180	Q96I59	SYNM_HUMAN	Homo sapiens asparaginyl-tRNA synthetase 2, mitochondrial (putative) (NARS2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	468					asparaginyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|asparagine-tRNA ligase activity|nucleic acid binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)	27	all_cancers(14;2.63e-17)|all_epithelial(13;1.85e-19)				L-Asparagine(DB00174)	AACCTTGGGAAAGGGATAACA	0.463000														138			63		0	0	0.003610	0	0
ITPR2	3709	broad.mit.edu	37	12	26868318	26868318	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr12:26868318C>T	uc001rhg.3	-	7	1186	c.769G>A	c.(769-771)Gag>Aag	p.E257K		NM_002223	NP_002214	Q14571	ITPR2_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 2 (ITPR2), mRNA.	257	MIR 3.				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					TGTTTTTTCTCATATTCATCA	0.393000														69			21		0	0	0.001523	0	0
ODZ2	57451	broad.mit.edu	37	5	167675128	167675128	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr5:167675128G>A	uc010jjd.3	+	26	7157	c.7157G>A	c.(7156-7158)gGg>gAg	p.G2386E	ODZ2_uc003lzr.4_Missense_Mutation_p.G2156E|ODZ2_uc003lzt.4_Missense_Mutation_p.G1759E|ODZ2_uc010jje.3_Missense_Mutation_p.G1650E	NM_001122679	NP_001116151			Homo sapiens odz, odd Oz/ten-m homolog 2 (Drosophila) (ODZ2), mRNA.											NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|lung(45)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(2)	122	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)		ACGGCCTATGGGGAGATTTAT	0.532000														98			45		0	0	0.003610	0	0
REPIN1	29803	broad.mit.edu	37	7	150069663	150069663	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr7:150069663C>T	uc022apt.1	-	0	371	c.3G>A	c.(1-3)atG>atA	p.M1I	REPIN1_uc003whd.2_Missense_Mutation_p.H434Y|REPIN1_uc010lpq.1_Missense_Mutation_p.H445Y|REPIN1_uc010lpr.1_Missense_Mutation_p.H502Y|REPIN1_uc003whc.2_Missense_Mutation_p.H445Y|REPIN1_uc003whe.2_Missense_Mutation_p.H445Y			Q9BWE0	REPI1_HUMAN	Homo sapiens mRNA; cDNA DKFZp762K135 (from clone DKFZp762K135).	0					DNA replication	nuclear origin of replication recognition complex	DNA binding|zinc ion binding			cervix(2)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.011)			CCAGGGCAGCCATCTGGCGGC	0.726000														5			6		0	0	0.003080	0	0
SYNGAP1	8831	broad.mit.edu	37	6	33408710	33408710	+	Silent	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr6:33408710C>T	uc011dri.2	+	10	2076	c.1881C>T	c.(1879-1881)gcC>gcT	p.A627A	SYNGAP1_uc010juy.3_Silent_p.A612A|SYNGAP1_uc010juz.3_Silent_p.A339A	NM_006772	NP_006763	Q96PV0	SYGP1_HUMAN	Homo sapiens synaptic Ras GTPase activating protein 1 (SYNGAP1), mRNA.	627	Ras-GAP.				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						CCCTCATTGCCAAGGTCATCC	0.602000														18			7		0	0	0.001984	0	0
MCHR2	84539	broad.mit.edu	37	6	100368967	100368967	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr6:100368967G>A	uc003pqh.1	-	5	1187	c.872C>T	c.(871-873)tCc>tTc	p.S291F	MCHR2_uc003pqi.1_Missense_Mutation_p.S291F	NM_001040179	NP_115892	Q969V1	MCHR2_HUMAN	Homo sapiens melanin-concentrating hormone receptor 2 (MCHR2), transcript variant 1, mRNA.	291						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		GAGACAGATGGAGAGGTAATA	0.468000														44			23		0	0	0.003330	0	0
FILIP1	27145	broad.mit.edu	37	6	76022919	76022919	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr6:76022919C>T	uc010kbe.3	-	5	3168	c.2638G>A	c.(2638-2640)Gaa>Aaa	p.E880K	FILIP1_uc003phy.1_Missense_Mutation_p.E877K|FILIP1_uc003phz.3_Missense_Mutation_p.E778K|FILIP1_uc003pia.3_Missense_Mutation_p.E877K|FILIP1_uc003pib.1_Missense_Mutation_p.E629K	NM_015687	NP_056502	Q7Z7B0	FLIP1_HUMAN	Homo sapiens filamin A interacting protein 1 (FILIP1), mRNA.	877										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						GGGCCGTTTTCCCTCTTTCTC	0.522000														48			24		0	0	0.002780	0	0
PDE1C	5137	broad.mit.edu	37	7	31904603	31904603	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr7:31904603C>T	uc003tcm.2	-	6	1164	c.703G>A	c.(703-705)Gat>Aat	p.D235N	PDE1C_uc003tcn.1_Missense_Mutation_p.D235N|PDE1C_uc003tco.2_Missense_Mutation_p.D295N|PDE1C_uc003tcr.3_Missense_Mutation_p.D235N|PDE1C_uc003tcs.3_Missense_Mutation_p.D235N	NM_001191057	NP_001177988	Q14123	PDE1C_HUMAN	Homo sapiens phosphodiesterase 1C, calmodulin-dependent 70kDa (PDE1C), transcript variant 2, mRNA.	235	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	p.D235N(3)|p.A234V(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			TGTGTAACATCGGCAGCGTGC	0.453000														36			28		0	0	0.005443	0	0
DPPA2	151871	broad.mit.edu	37	3	109019260	109019260	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr3:109019260A>T	uc003dxo.3	-	7	1124	c.877T>A	c.(877-879)Tta>Ata	p.L293I		NM_138815	NP_620170	Q7Z7J5	DPPA2_HUMAN	Homo sapiens developmental pluripotency associated 2 (DPPA2), mRNA.	293						nucleus	nucleic acid binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						ACTGTCATTAATCTTTTCATC	0.338000														61			35		0	0	0.005524	0	0
VNN2	8875	broad.mit.edu	37	6	133072331	133072331	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr6:133072331C>T	uc003qdt.3	-	4	1164	c.1153G>A	c.(1153-1155)Gga>Aga	p.G385R	VNN2_uc003qds.3_Missense_Mutation_p.G94R|VNN2_uc010kgb.3_Intron|VNN2_uc003qdv.3_Missense_Mutation_p.G332R	NM_004665	NP_004656	O95498	VNN2_HUMAN	Homo sapiens vanin 2 (VNN2), transcript variant 1, mRNA.	385					cellular component movement|pantothenate metabolic process	anchored to membrane|plasma membrane	pantetheine hydrolase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267)		GTAAAAGCTCCTAGAACGTAT	0.378000														60			32		0	0	0.002096	0	0
GUCY2F	2986	broad.mit.edu	37	X	108708565	108708565	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chrX:108708565G>A	uc022cch.1	-	1	923	c.838C>T	c.(838-840)Cct>Tct	p.P280S	GUCY2F_uc011msq.2_Non-coding_Transcript|GUCY2F_uc004eod.4_Missense_Mutation_p.P280S	NM_001522	NP_001513	P51841	GUC2F_HUMAN	Homo sapiens guanylate cyclase 2F, retinal (GUCY2F), mRNA.	280					intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						GCATCATAAGGAACAAAGACG	0.473000														21			43		0	0	0.003214	0	0
LIN7A	8825	broad.mit.edu	37	12	81205420	81205420	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr12:81205420T>G	uc001szj.1	-	4	719	c.526A>C	c.(526-528)Aag>Cag	p.K176Q	LIN7A_uc001szk.1_Non-coding_Transcript	NM_004664	NP_004655	O14910	LIN7A_HUMAN	Homo sapiens lin-7 homolog A (C. elegans) (LIN7A), mRNA.	176	PDZ.				exocytosis|protein complex assembly|protein transport	basolateral plasma membrane|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	L27 domain binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|skin(2)	15						TTAGCAGCCTTGAGTAGTTCC	0.478000														47			21		0	0	0.002780	0	0
ODZ3	55714	broad.mit.edu	37	4	183713602	183713602	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr4:183713602C>T	uc003ivd.1	+	24	5852	c.5777C>T	c.(5776-5778)aCg>aTg	p.T1926M		NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	1926					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)		TCCATCATCACGGACTACAAC	0.512000														27			11		0	0	0.001368	0	0
MYOCD	93649	broad.mit.edu	37	17	12639554	12639554	+	Silent	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr17:12639554G>A	uc002gno.2	+	5	791	c.492G>A	c.(490-492)ccG>ccA	p.P164P	MYOCD_uc002gnn.2_Silent_p.P164P|MYOCD_uc002gnp.1_Silent_p.P68P	NM_001146312	NP_001139784	Q8IZQ8	MYCD_HUMAN	Homo sapiens myocardin (MYOCD), transcript variant 1, mRNA.	164	HDAC5-binding (By similarity).				cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	RNA polymerase II transcription factor binding transcription factor activity|nucleic acid binding|transcription factor binding	p.P164P(3)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		GGCTTTCTCCGGATCAGACTC	0.547000														103			50		0	0	0.003610	0	0
DPP6	1804	broad.mit.edu	37	7	154672628	154672628	+	Silent	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr7:154672628G>A	uc003wlk.3	+	20	2238	c.2109G>A	c.(2107-2109)agG>agA	p.R703R	DPP6_uc003wli.3_Silent_p.R639R|DPP6_uc003wlm.3_Silent_p.R641R|DPP6_uc011kvq.2_Silent_p.R596R	NM_130797	NP_570629	P42658	DPP6_HUMAN	Homo sapiens dipeptidyl-peptidase 6 (DPP6), transcript variant 1, mRNA.	703					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity	p.A702T(1)		NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			ACATTGACAGGACGCGCGTGG	0.572000														31			13		0	0	0.001855	0	0
TPTE	7179	broad.mit.edu	37	21	10951345	10951345	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	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														114			17		0	0	0.001216	0	0
LOC729020	729020	broad.mit.edu	37	10	105005966	105005966	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr10:105005966G>A	uc009xxi.2	+	0	323	c.213G>A	c.(211-213)atG>atA	p.M71I	BC040734_uc001kwr.3_Intron	NM_001143909	NP_001137381	Q2QD12	Q2QD12_HUMAN	Homo sapiens rcRPE (LOC729020), mRNA.	71					carbohydrate metabolic process		ribulose-phosphate 3-epimerase activity										ACATGCACATGATGGTGTCCA	0.493000														55			30		0	0	0.007291	0	0
PACSIN2	11252	broad.mit.edu	37	22	43287005	43287005	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr22:43287005G>A	uc010gzg.3	-	3	623	c.401C>T	c.(400-402)gCt>gTt	p.A134V	PACSIN2_uc003bdg.4_Missense_Mutation_p.A134V|PACSIN2_uc003bdf.4_Missense_Mutation_p.A134V	NM_007229	NP_009160	Q9UNF0	PACN2_HUMAN	Homo sapiens protein kinase C and casein kinase substrate in neurons 2 (PACSIN2), transcript variant 2, mRNA.	134					actin cytoskeleton organization|endocytosis	cytoplasmic membrane-bounded vesicle	transporter activity			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)	19		Glioma(61;0.222)				GCCGTCCTCAGCTTCCTTGGT	0.557000														17			12		0	0	0.001855	0	0
SERPINB3	6317	broad.mit.edu	37	18	61324516	61324516	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr18:61324516A>C	uc002lji.3	-	5	744	c.600T>G	c.(598-600)ttT>ttG	p.F200L	SERPINB3_uc002ljg.3_Missense_Mutation_p.F200L|SERPINB3_uc010dqa.3_Missense_Mutation_p.F200L	NM_006919	NP_008850	P29508	SPB3_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 3 (SERPINB3), mRNA.	200					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						TGTTTGGCCAAAATTTTTCCT	0.279000														30			6		0	0	0.001168	0	0
MED13	9969	broad.mit.edu	37	17	60030396	60030396	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr17:60030396G>A	uc002izo.3	-	26	6124	c.6047C>T	c.(6046-6048)cCt>cTt	p.P2016L		NM_005121	NP_005112	Q9UHV7	MED13_HUMAN	Homo sapiens mediator complex subunit 13 (MED13), mRNA.	2016					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TGGAGAAGCAGGAAGGATATT	0.418000														21			45		0	0	0.003610	0	0
ACTRT1	139741	broad.mit.edu	37	X	127186107	127186107	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chrX:127186107C>T	uc004eum.3	-	0	276	c.79G>A	c.(79-81)Gga>Aga	p.G27R		NM_138289	NP_612146	Q8TDG2	ACTT1_HUMAN	Homo sapiens actin-related protein T1 (ACTRT1), mRNA.	27						cytoplasm|cytoskeleton				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						CCAATCTCTCCAGACAGGCCT	0.443000														6			24		0	0	0.003330	0	0
TSPYL2	64061	broad.mit.edu	37	X	53117121	53117121	+	Nonstop_Mutation	SNP	A	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chrX:53117121A>T	uc004drw.3	+	6	2221	c.2082A>T	c.(2080-2082)taA>taT	p.*694Y	TSPYL2_uc004drv.3_3'UTR	NM_022117	NP_071400	Q9H2G4	TSYL2_HUMAN	Homo sapiens TSPY-like 2 (TSPYL2), mRNA.	0					cell cycle|chromatin modification|negative regulation of DNA replication|negative regulation of cell cycle|negative regulation of cell growth|nucleosome assembly|regulation of protein kinase activity|regulation of signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|rDNA binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)	19						AAACCGGATAAGGGTTTTCCC	0.572000											OREG0019795	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		7			19		0	0	0.002299	0	0
ZNF300	91975	broad.mit.edu	37	5	150276484	150276484	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr5:150276484G>A	uc021yfx.1	-	6	793	c.365C>T	c.(364-366)tCc>tTc	p.S122F	ZNF300_uc021yfy.1_Missense_Mutation_p.S106F|ZNF300_uc021yfz.1_Missense_Mutation_p.S70F	NM_001172831	NP_001166303	Q96RE9	ZN300_HUMAN	Homo sapiens zinc finger protein 300 (ZNF300), transcript variant 1, mRNA.	106					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)			ATGATGGAAGGAAACTGTCCC	0.388000														35			19		0	0	0.001523	0	0
NBPF10	100132406	broad.mit.edu	37	1	145301786	145301786	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr1:145301786A>T	uc021oul.1	+	6	1090	c.1055A>T	c.(1054-1056)aAg>aTg	p.K352M	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|NBPF10_uc021ouk.1_Missense_Mutation_p.K352M|NBPF10_uc010oyi.2_5'Flank|NBPF10_uc001emq.1_Missense_Mutation_p.K81M|NBPF10_uc021oum.1_5'Flank	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 10 (NBPF10), mRNA.	352										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)		AAGGAGGAGAAGCTTGCAGAG	0.517000														384			22		0	0	0.004878	0	0
ADSS	159	broad.mit.edu	37	1	244583515	244583515	+	Silent	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr1:244583515G>A	uc001iaj.3	-	7	1064	c.747C>T	c.(745-747)atC>atT	p.I249I		NM_001126	NP_001117	P30520	PURA2_HUMAN	Homo sapiens adenylosuccinate synthase (ADSS), mRNA.	249					AMP biosynthetic process|immune system process|purine base metabolic process	cytosol|plasma membrane	GTP binding|adenylosuccinate synthase activity|magnesium ion binding|phosphate binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	12	all_cancers(71;2.17e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)	all_cancers(173;0.0896)|all_epithelial(177;0.172)	all cancers(7;9.71e-08)|GBM - Glioblastoma multiforme(7;1.28e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.0014)		L-Aspartic Acid(DB00128)	CTTCTACCAAGATTTTCTTTG	0.353000														33			22		0	0	0.002299	0	0
PCCA	5095	broad.mit.edu	37	13	100925546	100925546	+	Silent	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr13:100925546C>T	uc001voo.3	+	11	1117	c.1011C>T	c.(1009-1011)ttC>ttT	p.F337F	PCCA_uc010aga.3_Silent_p.F311F|PCCA_uc010tiz.2_Silent_p.F337F	NM_000282	NP_000273	P05165	PCCA_HUMAN	Homo sapiens propionyl CoA carboxylase, alpha polypeptide (PCCA), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	337	ATP-grasp.|Biotin carboxylation.				fatty acid beta-oxidation	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|enzyme binding|metal ion binding|propionyl-CoA carboxylase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|prostate(1)|skin(2)	26	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Biotin(DB00121)	CCGTGGAGTTCCTTGTGGACT	0.423000														18			4		0	0	0.000248	0	0
DPRX	503834	broad.mit.edu	37	19	54137815	54137815	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr19:54137815G>A	uc002qcf.1	+	1	110	c.59G>A	c.(58-60)cGa>cAa	p.R20Q		NM_001012728	NP_001012746	A6NFQ7	DPRX_HUMAN	Homo sapiens divergent-paired related homeobox (DPRX), mRNA.	20						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(4)|large_intestine(1)|lung(7)	12	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.013)		CACAGGAAACGAACCATGTTC	0.433000														44			25		0	0	0.003954	0	0
GALNT5	11227	broad.mit.edu	37	2	158142569	158142569	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr2:158142569C>T	uc002tzg.3	+	2	1919	c.1664C>T	c.(1663-1665)cCa>cTa	p.P555L	GALNT5_uc010zci.2_Non-coding_Transcript	NM_014568	NP_055383	Q7Z7M9	GALT5_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5) (GALNT5), mRNA.	555	Catalytic subdomain A.				glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						TCCCAGTTTCCAAAAGTTCGG	0.378000														14			13		0	0	0.001855	0	0
GIMAP8	155038	broad.mit.edu	37	7	150174830	150174830	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr7:150174830G>A	uc003whj.3	+	4	2290	c.1960G>A	c.(1960-1962)Gaa>Aaa	p.E654K		NM_175571	NP_783161	Q8ND71	GIMA8_HUMAN	Homo sapiens GTPase, IMAP family member 8 (GIMAP8), mRNA.	654						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)		GTCCCAAGCCGAAAAACTCCT	0.463000														29			21		0	0	0.001882	0	0
SALL1	6299	broad.mit.edu	37	16	51174276	51174276	+	Silent	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr16:51174276G>A	uc021tif.1	-	1	1888	c.1566C>T	c.(1564-1566)ccC>ccT	p.P522P	SALL1_uc021tid.1_Silent_p.P522P|SALL1_uc021tie.1_Silent_p.P619P|SALL1_uc010cbv.3_Intron	NM_001127892	NP_001121364	Q9NSC2	SALL1_HUMAN	Homo sapiens sal-like 1 (Drosophila) (SALL1), transcript variant 2, mRNA.	619					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)			TGCCACCAGAGGGTGGCAGAG	0.652000														29			18		0	0	0.001216	0	0
DENND2A	27147	broad.mit.edu	37	7	140301463	140301463	+	Silent	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr7:140301463C>T	uc010lnk.3	-	2	1255	c.735G>A	c.(733-735)cgG>cgA	p.R245R	DENND2A_uc011kre.2_Non-coding_Transcript|DENND2A_uc010lnj.3_Silent_p.R245R|DENND2A_uc003vvw.3_Silent_p.R245R|DENND2A_uc003vvx.3_Silent_p.R245R	NM_015689	NP_056504	Q9ULE3	DEN2A_HUMAN	Homo sapiens DENN/MADD domain containing 2A (DENND2A), mRNA.	245										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)					TCTCAAGGCTCCGGTCCCAGG	0.602000														92			55		0	0	0.003610	0	0
STAP1	26228	broad.mit.edu	37	4	68472054	68472054	+	Silent	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr4:68472054G>A	uc003hde.4	+	8	949	c.867G>A	c.(865-867)aaG>aaA	p.K289K	STAP1_uc003hdf.3_Silent_p.K289K	NM_012108	NP_036240	Q9ULZ2	STAP1_HUMAN	Homo sapiens signal transducing adaptor family member 1 (STAP1), mRNA.	289					cellular membrane fusion|intracellular protein transport	cytoplasm				NS(1)|large_intestine(1)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	12						AAAAGTTGAAGAAAAATCCAC	0.328000														20			11		0	0	0.001368	0	0
ZNF587	84914	broad.mit.edu	37	19	58371159	58371159	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr19:58371159G>A	uc002qql.3	+	2	1605	c.1379G>A	c.(1378-1380)gGa>gAa	p.G460E	ZNF587_uc002qqb.2_Missense_Mutation_p.G417E|ZNF587_uc002qqi.2_Missense_Mutation_p.G417E|ZNF587_uc010yhh.2_Missense_Mutation_p.G417E|ZNF587_uc021vco.1_Missense_Mutation_p.G460E|ZNF587_uc002qqj.1_Non-coding_Transcript|ZNF814_uc002qqk.2_Intron|ZNF587_uc010yhk.2_Missense_Mutation_p.G459E|ZNF587_uc021vcq.1_5'Flank	NM_032828	NP_116217	Q96SQ5	ZN587_HUMAN	Homo sapiens zinc finger protein 587 (ZNF587), transcript variant 1, mRNA.	460					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	15		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)		GTTCACACTGGAGAAAGGCCA	0.428000														74			23		0	0	0.003330	0	0
TMEM104	54868	broad.mit.edu	37	17	72815909	72815909	+	Silent	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr17:72815909C>T	uc002jls.4	+	8	819	c.657C>T	c.(655-657)ctC>ctT	p.L219L	TMEM104_uc010wrf.1_Silent_p.L219L|TMEM104_uc010wrg.1_Silent_p.L232L|TMEM104_uc010dfx.3_Silent_p.L219L	NM_017728	NP_060198	Q8NE00	TM104_HUMAN	Homo sapiens transmembrane protein 104 (TMEM104), mRNA.	219						integral to membrane				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(1)	19	all_lung(278;0.23)					CTCTCCTCCTCGGACCGTTCA	0.567000														13			35		0	0	0.005524	0	0
SLC6A12	6539	broad.mit.edu	37	12	306045	306045	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr12:306045G>A	uc001qhz.3	-	11	1743	c.1079C>T	c.(1078-1080)cCt>cTt	p.P360L	SLC6A12_uc001qhy.3_Intron|SLC6A12_uc001qia.3_Missense_Mutation_p.P360L|SLC6A12_uc001qib.3_Missense_Mutation_p.P360L|SLC6A12_uc009zdh.2_Missense_Mutation_p.P360L	NM_003044	NP_003035	P48065	S6A12_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, betaine/GABA), member 12 (SLC6A12), transcript variant 1, mRNA.	360					cellular nitrogen compound metabolic process|neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00227)			GGCCAGCCCAGGACCTGCCAG	0.577000														25			15		0	0	0.003163	0	0
SPOCK3	50859	broad.mit.edu	37	4	167713375	167713375	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr4:167713375C>T	uc011cjq.1	-	5	748	c.691G>A	c.(691-693)Gaa>Aaa	p.E231K	SPOCK3_uc021xuf.1_Missense_Mutation_p.E222K|SPOCK3_uc011cjr.1_Missense_Mutation_p.E102K|SPOCK3_uc003iri.1_Missense_Mutation_p.E222K|SPOCK3_uc011cjs.1_Missense_Mutation_p.E171K|SPOCK3_uc003irj.1_Missense_Mutation_p.E219K|SPOCK3_uc011cjt.1_Missense_Mutation_p.E130K|SPOCK3_uc011cjp.2_Intron|SPOCK3_uc011cju.1_Missense_Mutation_p.E126K|SPOCK3_uc011cjv.1_Missense_Mutation_p.E124K|SPOCK3_uc003irk.4_Missense_Mutation_p.E219K	NM_001204353	NP_001191282	Q9BQ16	TICN3_HUMAN	Homo sapiens sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3 (SPOCK3), transcript variant 4, mRNA.	222					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)		CTTCCACTTTCATGAAGGGCC	0.403000														33			12		0	0	0.001368	0	0
SLC38A3	10991	broad.mit.edu	37	3	50256311	50256311	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr3:50256311G>A	uc003cyn.4	+	13	1375	c.1234G>A	c.(1234-1236)Ggc>Agc	p.G412S		NM_006841	NP_006832	Q99624	S38A3_HUMAN	Homo sapiens solute carrier family 38, member 3 (SLC38A3), mRNA.	413					cellular nitrogen compound metabolic process|sodium ion transport	integral to plasma membrane	L-alanine transmembrane transporter activity|L-asparagine transmembrane transporter activity|L-glutamine transmembrane transporter activity|L-histidine transmembrane transporter activity|antiporter activity|symporter activity			breast(1)|cervix(1)|endometrium(1)|lung(3)	6				BRCA - Breast invasive adenocarcinoma(193;0.000275)|KIRC - Kidney renal clear cell carcinoma(197;0.00548)|Kidney(197;0.00615)	L-Asparagine(DB00174)|L-Glutamine(DB00130)|L-Histidine(DB00117)	TATTGCCGTTGGCCTGCTCAC	0.587000														31			7		0	0	0.003080	0	0
GBE1	2632	broad.mit.edu	37	3	81586211	81586211	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr3:81586211G>A	uc021xav.1	-	12	1936	c.1654C>T	c.(1654-1656)Cca>Tca	p.P552S	GBE1_uc021xax.1_Missense_Mutation_p.P511S	NM_000158	NP_000149	Q04446	GLGB_HUMAN	Homo sapiens glucan (1,4-alpha-), branching enzyme 1 (GBE1), mRNA.	552					glucose metabolic process|glycogen biosynthetic process	cytosol	1,4-alpha-glucan branching enzyme activity|cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			breast(1)|endometrium(5)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Lung NSC(201;0.0117)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0654)|Epithelial(33;0.00305)|LUSC - Lung squamous cell carcinoma(29;0.00646)|BRCA - Breast invasive adenocarcinoma(55;0.00813)|Lung(72;0.0129)|KIRC - Kidney renal clear cell carcinoma(39;0.212)|Kidney(39;0.247)		CCTTTTCTTGGGAAGTCTAAC	0.348000									Glycogen Storage Disease, type IV					10			5		0	0	0.001984	0	0
OR2T33	391195	broad.mit.edu	37	1	248436957	248436957	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr1:248436957G>A	uc010pzi.2	-	0	160	c.160C>T	c.(160-162)Cac>Tac	p.H54Y		NM_001004695	NP_001004695	Q8NG76	O2T33_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 33 (OR2T33), mRNA.	54					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)			ATGGGCGTGTGGAGCCGGTGG	0.527000														58			13		0	0	0.001882	0	0
APLNR	187	broad.mit.edu	37	11	57004463	57004463	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr11:57004463C>T	uc001njo.3	-	0	465	c.16G>A	c.(16-18)Gat>Aat	p.D6N	APLNR_uc001njn.4_Non-coding_Transcript	NM_005161	NP_005152	P35414	APJ_HUMAN	Homo sapiens apelin receptor (APLNR), transcript variant 1, mRNA.	6						integral to plasma membrane	G-protein coupled receptor activity	p.D6N(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						TTGTCAAAATCACCACCTTCC	0.562000														32			17		0	0	0.007413	0	0
TSHZ2	128553	broad.mit.edu	37	20	51870954	51870954	+	Silent	SNP	G	T	T	rs45562541	byFrequency	TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr20:51870954G>T	uc002xwo.3	+	1	1844	c.957G>T	c.(955-957)ccG>ccT	p.P319P	TSHZ2_uc021wex.1_Silent_p.P316P	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	Homo sapiens teashirt zinc finger homeobox 2 (TSHZ2), transcript variant 1, mRNA.	319					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P319L(1)		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)			TGGTCACCCCGGCTAAGAAAC	0.458000														59			23		2.21704e-12	4.33143e-12	0.002780	1	0
KRCC1	51315	broad.mit.edu	37	2	88327609	88327609	+	Silent	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr2:88327609C>T	uc002sso.1	-	3	868	c.474G>A	c.(472-474)caG>caA	p.Q158Q	KRCC1_uc002ssp.1_Silent_p.Q158Q|KRCC1_uc021vko.1_Silent_p.Q158Q	NM_016618	NP_057702	Q9NPI7	KRCC1_HUMAN	Homo sapiens lysine-rich coiled-coil 1 (KRCC1), mRNA.	158	Lys-rich.									cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)	7						TTTTCCTCTTCTGATGTATCT	0.423000														70			33		0	0	0.002096	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140710915	140710915	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr5:140710915C>T	uc003lji.2	+	0	664	c.664C>T	c.(664-666)Cgt>Tgt	p.R222C	PCDHGC5_uc011dan.2_Missense_Mutation_p.R222C	NM_018912	NP_061735	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 1 (PCDHGA1), transcript variant 1, mRNA.	222	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R222H(1)		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)			TGAACCAGTCCGTTCAGGGAC	0.493000														23			23		0	0	0.003330	0	0
CSE1L	1434	broad.mit.edu	37	20	47705915	47705915	+	Silent	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr20:47705915C>T	uc002xty.3	+	17	2087	c.1953C>T	c.(1951-1953)atC>atT	p.I651I	CSE1L_uc010zyg.2_Silent_p.I434I|CSE1L_uc010ghx.3_Silent_p.I595I|CSE1L_uc010ghy.3_Silent_p.I272I|CSE1L_uc010zyh.2_Silent_p.I300I	NM_001316	NP_001307	P55060	XPO2_HUMAN	Homo sapiens CSE1 chromosome segregation 1-like (yeast) (CSE1L), transcript variant 1, mRNA.	651					apoptosis|cell proliferation|intracellular protein transport	cytoplasm|nucleus	importin-alpha export receptor activity			breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	35			BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198)			TTACTGAAATCTTACAAAATG	0.343000														24			10		0	0	0.000673	0	0
EXTL3	2137	broad.mit.edu	37	8	28574593	28574593	+	Silent	SNP	G	C	C			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr8:28574593G>C	uc003xgz.1	+	2	1610	c.1017G>C	c.(1015-1017)cgG>cgC	p.R339R		NM_001440	NP_001431	O43909	EXTL3_HUMAN	Homo sapiens exostoses (multiple)-like 3 (EXTL3), mRNA.	339						integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding			biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1)	36		Ovarian(32;0.069)		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)		CGGTGAAGCGGAAATATCTCT	0.562000														27			22		0	0	0.005443	0	0
TNR	7143	broad.mit.edu	37	1	175332856	175332856	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr1:175332856G>A	uc001gkp.1	-	10	2776	c.2695C>T	c.(2695-2697)Cga>Tga	p.R899*	TNR_uc009wwu.1_Nonsense_Mutation_p.R899*	NM_003285	NP_003276	Q92752	TENR_HUMAN	Homo sapiens tenascin R (restrictin, janusin) (TNR), mRNA.	899	Fibronectin type-III 7.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		p.R899*(2)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					TGGGTGGGTCGATATGATACT	0.448000														58			44		0	0	0.003214	0	0
SLC7A13	157724	broad.mit.edu	37	8	87242404	87242405	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr8:87242404_87242405GG>AA	uc003ydq.1	-	0	200_201	c.102_103CC>TT	c.(100-105)tccccc>tcTTcc	p.P35S	SLC7A13_uc003ydr.1_Missense_Mutation_p.P35S	NM_138817	NP_620172	Q8TCU3	S7A13_HUMAN	Homo sapiens solute carrier family 7 (anionic amino acid transporter), member 13 (SLC7A13), mRNA.	35						integral to membrane	amino acid transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						ACACCTTTGGGGGACACAAAAA	0.470000														42			30		0	0	0.004672	0	0
SLC9A9	285195	broad.mit.edu	37	3	143371183	143371183	+	Silent	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr3:143371183G>A	uc003evn.3	-	5	878	c.669C>T	c.(667-669)ttC>ttT	p.F223F	SLC9A9_uc011bnk.2_Silent_p.F97F	NM_173653	NP_775924	Q8IVB4	SL9A9_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 9 (SLC9A9), mRNA.	223					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						GCAGTTCATGGAAAATGGCCA	0.473000														8			5		0	0	0.001168	0	0
DYSF	8291	broad.mit.edu	37	2	71791275	71791275	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr2:71791275C>T	uc010fen.3	+	23	2638	c.2497C>T	c.(2497-2499)Ctc>Ttc	p.L833F	DYSF_uc010fei.3_Missense_Mutation_p.L832F|DYSF_uc010feh.3_Missense_Mutation_p.L801F|DYSF_uc002sig.4_Missense_Mutation_p.L801F|DYSF_uc010yqx.2_Non-coding_Transcript|DYSF_uc010feg.3_Missense_Mutation_p.L846F|DYSF_uc010fee.3_Missense_Mutation_p.L815F|DYSF_uc010fef.3_Missense_Mutation_p.L832F|DYSF_uc002sie.3_Missense_Mutation_p.L815F|DYSF_uc010feo.3_Missense_Mutation_p.L847F|DYSF_uc010fej.3_Missense_Mutation_p.L802F|DYSF_uc010fel.3_Missense_Mutation_p.L802F|DYSF_uc010fem.3_Missense_Mutation_p.L816F|DYSF_uc002sif.3_Missense_Mutation_p.L816F|DYSF_uc010fek.3_Missense_Mutation_p.L833F	NM_001130987	NP_001124459	O75923	DYSF_HUMAN	Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA.	815						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						CCACCAAGTCCTCTTCTCCCG	0.547000														53			20		0	0	0.001523	0	0
PIWIL2	55124	broad.mit.edu	37	8	22175740	22175740	+	Silent	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr8:22175740G>A	uc003xbn.2	+	19	2503	c.2355G>A	c.(2353-2355)gtG>gtA	p.V785V	PIWIL2_uc011kzf.1_Silent_p.V785V|PIWIL2_uc010ltv.2_Silent_p.V785V	NM_018068	NP_060538	Q8TC59	PIWL2_HUMAN	Homo sapiens piwi-like 2 (Drosophila) (PIWIL2), transcript variant 2, mRNA.	785	Piwi.				DNA methylation involved in gamete generation|RNA 5'-end processing|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|spermatogenesis	chromatoid body|pi-body	piRNA binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)		AGGAGATTGTGGACAGCCTGA	0.463000														107			43		0	0	0.003610	0	0
LTBP3	4054	broad.mit.edu	37	11	65309086	65309086	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr11:65309086G>A	uc001oej.3	-	18	2979	c.2710C>T	c.(2710-2712)Cag>Tag	p.Q904*	LTBP3_uc001oef.3_5'UTR|LTBP3_uc001oeg.3_5'UTR|LTBP3_uc001oeh.3_Nonsense_Mutation_p.Q334*|LTBP3_uc010roi.2_Nonsense_Mutation_p.Q787*|LTBP3_uc001oei.3_Nonsense_Mutation_p.Q904*|LTBP3_uc010roj.2_Nonsense_Mutation_p.Q605*|LTBP3_uc010rok.1_Nonsense_Mutation_p.Q815*	NM_001130144	NP_001123616	Q9NS15	LTBP3_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 3 (LTBP3), transcript variant 1, mRNA.	904	EGF-like 9; calcium-binding (Potential).					extracellular region	calcium ion binding|growth factor binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						CAACCGTGCTGGTCCTGGGTG	0.632000														51			4		0	0	0.000248	0	0
SIGLEC11	114132	broad.mit.edu	37	19	50455651	50455651	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr19:50455651C>T	uc010ybh.2	-	9	1743	c.1652_splice	c.e9-1	p.G551_splice	SIGLEC11_uc010ybi.2_Splice_Site_p.W455_splice	NM_052884	NP_443116	Q96RL6	SIG11_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 11 (SIGLEC11), transcript variant 1, mRNA.	551					cell adhesion	integral to membrane	sugar binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)		CTCCAGCTTCCCTGCATGGGA	0.637000														24			17		0	0	0.004007	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37451769	37451769	+	Silent	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr10:37451769G>A	uc021ppc.1	+	16	1926	c.1827G>A	c.(1825-1827)ttG>ttA	p.L609L	ANKRD30A_uc001iza.1_Silent_p.L609L	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	665						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.T608T(1)		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						AACAAACATTGAGAGCAGGTA	0.328000														50			25		0	0	0.002780	0	0
ZNF816	125893	broad.mit.edu	37	19	53454451	53454451	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr19:53454451G>A	uc002qal.2	-	4	928	c.577C>T	c.(577-579)Caa>Taa	p.Q193*	ZNF816_uc010eqj.3_Intron|ZNF816_uc002qak.2_Intron|ZNF816_uc021uzc.1_Nonsense_Mutation_p.Q193*|ZNF816_uc002qam.2_Nonsense_Mutation_p.Q193*	NM_001031665	NP_001189386	Q0VGE8	ZN816_HUMAN	Homo sapiens zinc finger protein 816 (ZNF816), transcript variant 1, mRNA.	193					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(10)|lung(9)|stomach(1)|urinary_tract(2)	27						GAAATTCTTTGGGATTCTGAA	0.378000														40			26		0	0	0.003330	0	0
OR4M2	390538	broad.mit.edu	37	15	22368758	22368758	+	Silent	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr15:22368758C>T	uc010tzu.2	+	0	281	c.183C>T	c.(181-183)ttC>ttT	p.F61F	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.	61					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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)		CTATGTATTTCCTGTTGGCTA	0.388000														140			64		0	0	0.003610	0	0
LIMCH1	22998	broad.mit.edu	37	4	41621205	41621205	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr4:41621205G>A	uc003gvz.4	+	6	623	c.206_splice	c.e6-1	p.G69_splice	LIMCH1_uc003gvt.1_Splice_Site_p.G69_splice|LIMCH1_uc003gwe.4_Splice_Site_p.G228_splice|LIMCH1_uc003gvu.4_Splice_Site_p.G228_splice|LIMCH1_uc003gvv.4_Splice_Site_p.G228_splice|LIMCH1_uc003gvw.4_Splice_Site_p.G228_splice|LIMCH1_uc003gvx.4_Splice_Site_p.G228_splice|LIMCH1_uc003gvy.4_Splice_Site_p.G69_splice|LIMCH1_uc003gwa.4_Splice_Site_p.G69_splice|LIMCH1_uc011byu.2_Splice_Site_p.G74_splice|LIMCH1_uc003gwc.4_Splice_Site_p.G74_splice|LIMCH1_uc003gwd.4_Splice_Site_p.G74_splice|LIMCH1_uc011byv.2_Splice_Site|LIMCH1_uc003gwb.1_Splice_Site_p.G76_splice	NM_014988	NP_055803	Q9UPQ0	LIMC1_HUMAN	Homo sapiens LIM and calponin homology domains 1 (LIMCH1), transcript variant 1, mRNA.	228	CH.				actomyosin structure organization		actin binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						TCTTCCCTAGGGAGAGGAAGC	0.507000														183			88		0	0	0.003610	0	0
RAB40C	57799	broad.mit.edu	37	16	677562	677562	+	Silent	SNP	C	T	T	rs139898602		TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr16:677562C>T	uc021szt.1	+	6	1008	c.786C>T	c.(784-786)tcC>tcT	p.S262S	RAB40C_uc021szu.1_Silent_p.S262S|RAB40C_uc021szv.1_Silent_p.S262S|RAB40C_uc002chq.3_Silent_p.S243S|RAB40C_uc002chr.3_Silent_p.S262S|AK128777_uc002chs.1_5'Flank	NM_001172663	NP_066991	Q96S21	RB40C_HUMAN	Homo sapiens RAB40C, member RAS oncogene family (RAB40C), transcript variant 1, mRNA.	262					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			NS(1)|endometrium(2)|large_intestine(1)|lung(1)|prostate(1)	6		Hepatocellular(780;0.0218)				GGTCCAAGTCCATCCGTCCAC	0.682000														32			23		0	0	0.005443	0	0
TRPM6	140803	broad.mit.edu	37	9	77377626	77377626	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr9:77377626C>T	uc004ajl.1	-	25	4199	c.3961G>A	c.(3961-3963)Gaa>Aaa	p.E1321K	TRPM6_uc004ajk.1_Missense_Mutation_p.E1316K|TRPM6_uc022bib.1_Missense_Mutation_p.E1316K|TRPM6_uc010mpb.1_Non-coding_Transcript|TRPM6_uc010mpc.1_Intron|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron|TRPM6_uc004ajj.1_Missense_Mutation_p.E277K	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 6 (TRPM6), transcript variant a, mRNA.	1321					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						CTTTGTGTTTCTTGCCTTTCC	0.473000														79			52		0	0	0.003610	0	0
REV3L	5980	broad.mit.edu	37	6	111688351	111688351	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr6:111688351G>T	uc003puy.4	-	13	6981	c.6640C>A	c.(6640-6642)Cct>Act	p.P2214T	REV3L_uc003pux.4_Missense_Mutation_p.P2136T|REV3L_uc003puz.4_Missense_Mutation_p.P2136T|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.	2214					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)		GGTGCTTCAGGAAGCCTTTCC	0.373000								DNA polymerases (catalytic subunits)						30			28		2.61193e-14	5.1097e-14	0.001786	1	0
COL4A5	1287	broad.mit.edu	37	X	107821328	107821328	+	Silent	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chrX:107821328C>T	uc022ccg.1	+	11	868	c.666C>T	c.(664-666)ttC>ttT	p.F222F	COL4A5_uc004enz.1_Silent_p.F222F	NM_033380	NP_203699	P29400	CO4A5_HUMAN	Homo sapiens collagen, type IV, alpha 5 (COL4A5), transcript variant 2, mRNA.	222	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						GCTTAAATTTCCAGGGACCCA	0.363000									Alport syndrome with Diffuse Leiomyomatosis					3			17		0	0	0.007413	0	0
HCRTR2	3062	broad.mit.edu	37	6	55147032	55147032	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr6:55147032G>A	uc003pcl.3	+	6	1430	c.1115G>A	c.(1114-1116)cGa>cAa	p.R372Q	HCRTR2_uc010jzv.3_Non-coding_Transcript	NM_001526	NP_001517	O43614	OX2R_HUMAN	Homo sapiens hypocretin (orexin) receptor 2 (HCRTR2), mRNA.	372					feeding behavior	integral to plasma membrane	neuropeptide receptor activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			GGAAAATTTCGAGAGGAATTT	0.453000														18			7		0	0	0.001984	0	0
DCDC5	100506627	broad.mit.edu	37	11	30928159	30928159	+	Silent	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr11:30928159G>A	uc009yjk.1	-	17	2445	c.2376C>T	c.(2374-2376)ttC>ttT	p.F792F	DCDC5_uc001mss.1_Non-coding_Transcript|DCDC5_uc021qfk.1_Silent_p.F451F|DCDC5_uc009yjj.2_Non-coding_Transcript	NM_020869	NP_065920	Q6ZRR9	DCDC5_HUMAN	Homo sapiens doublecortin domain containing 5 (DCDC5), mRNA.	423					intracellular signal transduction					NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(17)|prostate(1)|stomach(1)	31						AAATACAGAGGAATGGAACCC	0.463000														15			5		0	0	0.001168	0	0
NKAIN3	286183	broad.mit.edu	37	8	63659497	63659497	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr8:63659497G>A	uc010lyq.1	+	3	412	c.280G>A	c.(280-282)Gat>Aat	p.D94N		NM_173688	NP_775959	Q8N8D7	NKAI3_HUMAN	Homo sapiens Na+/K+ transporting ATPase interacting 3 (NKAIN3), mRNA.	94						integral to membrane|plasma membrane				kidney(3)|large_intestine(2)|lung(8)	13	Breast(64;0.127)	Lung NSC(129;0.187)				CTAGGACACCGATCTAATGAC	0.448000														30			10		0	0	0.000978	0	0
SCN9A	6335	broad.mit.edu	37	2	167060472	167060472	+	Silent	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr2:167060472G>A	uc010fpl.3	-	25	5075	c.4734C>T	c.(4732-4734)tcC>tcT	p.S1578S	BC051759_uc002udp.3_Intron	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA.	1589						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.S1578F(1)		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)	TACCTACAATGGAGATAATCA	0.323000														7			5		0	0	0.001168	0	0
MLLT4	4301	broad.mit.edu	37	6	168281154	168281154	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr6:168281154A>T	uc021zik.1	+	5	1050	c.731A>T	c.(730-732)tAt>tTt	p.Y244F	MLLT4_uc003qwb.1_Missense_Mutation_p.Y284F|MLLT4_uc003qwc.2_Missense_Mutation_p.Y285F|MLLT4_uc021zij.1_Missense_Mutation_p.Y284F|MLLT4_uc003qwf.3_5'UTR	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.	285					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)		TTAGAGAAGTATGGTCTGGAA	0.378000			T	MLL	AL									116			62		0	0	0.003610	0	0
LIMK2	3985	broad.mit.edu	37	22	31655116	31655116	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr22:31655116G>A	uc003akh.3	+	3	407	c.262G>A	c.(262-264)Gag>Aag	p.E88K	LIMK2_uc003aki.3_Intron|LIMK2_uc003akj.3_Missense_Mutation_p.E67K|LIMK2_uc003akk.3_Missense_Mutation_p.E67K|LIMK2_uc011aln.2_Missense_Mutation_p.E5K	NM_005569	NP_005560	P53671	LIMK2_HUMAN	Homo sapiens LIM domain kinase 2 (LIMK2), transcript variant 2a, mRNA.	88	LIM zinc-binding 2.					mitochondrion|nucleus	ATP binding|protein serine/threonine kinase activity|zinc ion binding			endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1)	29						GGTGGCTGGGGAGTTCAAGTA	0.547000														35			21		0	0	0.003954	0	0
LGR6	59352	broad.mit.edu	37	1	202245493	202245493	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr1:202245493C>T	uc001gxu.3	+	4	488	c.488C>T	c.(487-489)tCc>tTc	p.S163F	LGR6_uc001gxv.3_Missense_Mutation_p.S111F|LGR6_uc009xab.3_Non-coding_Transcript|LGR6_uc001gxw.3_Intron|LGR6_uc009xac.1_Non-coding_Transcript	NM_001017403	NP_001017403	Q9HBX8	LGR6_HUMAN	Homo sapiens leucine-rich repeat containing G protein-coupled receptor 6 (LGR6), transcript variant 1, mRNA.	163						integral to membrane|plasma membrane	protein-hormone receptor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						GGGCTGTCCTCCCTCCGCCAC	0.632000														39			14		0	0	0.002450	0	0
ASL	435	broad.mit.edu	37	7	65553815	65553815	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr7:65553815C>T	uc003tup.3	+	9	975	c.740C>T	c.(739-741)tCg>tTg	p.S247L	ASL_uc003tuo.3_Missense_Mutation_p.S247L|ASL_uc003tur.3_Missense_Mutation_p.S221L|ASL_uc003tuq.3_Missense_Mutation_p.S247L	NM_001024943	NP_001020114	P04424	ARLY_HUMAN	Homo sapiens argininosuccinate lyase (ASL), transcript variant 1, mRNA.	247					arginine biosynthetic process via ornithine|arginine catabolic process|urea cycle	cytosol	argininosuccinate lyase activity			breast(3)|endometrium(3)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	18					L-Arginine(DB00125)	TTCTGGGCTTCGCTGTGCATG	0.587000														22			9		0	0	0.000673	0	0
SDR42E1	93517	broad.mit.edu	37	16	82033147	82033147	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr16:82033147G>A	uc002fgu.3	-	2	879	c.751C>T	c.(751-753)Ccc>Tcc	p.P251S		NM_145168	NP_660151	Q8WUS8	D42E1_HUMAN	Homo sapiens short chain dehydrogenase/reductase family 42E, member 1 (SDR42E1), mRNA.	251					steroid biosynthetic process	integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding	p.Q250H(2)		NS(2)|endometrium(1)|lung(4)|skin(3)	10						ATGAAGTAGGGCTGCCCAGAG	0.562000														64			29		0	0	0.006320	0	0
SLC6A19	340024	broad.mit.edu	37	5	1214133	1214133	+	Silent	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr5:1214133C>T	uc003jbw.4	+	5	896	c.840C>T	c.(838-840)tcC>tcT	p.S280S		NM_001003841	NP_001003841	Q695T7	S6A19_HUMAN	Homo sapiens solute carrier family 6 (neutral amino acid transporter), member 19 (SLC6A19), mRNA.	280					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			TCTCCTTCTCCCTGGCCTTCG	0.637000														62			20		0	0	0.002299	0	0
TIE1	7075	broad.mit.edu	37	1	43784918	43784918	+	Missense_Mutation	SNP	G	A	A	rs45475401	byFrequency	TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr1:43784918G>A	uc001ciu.3	+	17	3112	c.2935G>A	c.(2935-2937)Gac>Aac	p.D979N	TIE1_uc010oke.2_Missense_Mutation_p.D934N|TIE1_uc009vwq.3_Missense_Mutation_p.D935N|TIE1_uc010okg.2_Missense_Mutation_p.D624N|TIE1_uc021omo.1_5'Flank	NM_005424	NP_005415	P35590	TIE1_HUMAN	Homo sapiens tyrosine kinase with immunoglobulin-like and EGF-like domains 1 (TIE1), transcript variant 1, mRNA.	979	Protein kinase.				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			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)				CATCCACAGGGACCTGGCTGC	0.567000														35			13		0	0	0.001855	0	0
TTN	7273	broad.mit.edu	37	2	179649008	179649008	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr2:179649008A>C	uc021vsy.1	-	15	2789	c.2564T>G	c.(2563-2565)aTc>aGc	p.I855S	TTN_uc021vsz.1_Missense_Mutation_p.I809S|TTN_uc021vta.1_Missense_Mutation_p.I809S|TTN_uc021vtb.1_Missense_Mutation_p.I809S|TTN_uc002unb.2_Missense_Mutation_p.I855S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	855							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)			CGATTTGGTGATCTTCTGAGC	0.483000														26			18		0	0	0.006122	0	0
CCDC33	80125	broad.mit.edu	37	15	74623056	74623056	+	Silent	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr15:74623056G>A	uc002axo.3	+	12	1903	c.1509G>A	c.(1507-1509)agG>agA	p.R503R	CCDC33_uc002axp.3_Silent_p.R325R|CCDC33_uc021sqi.1_Non-coding_Transcript|CCDC33_uc002axq.3_Silent_p.R96R|CCDC33_uc002axr.3_Silent_p.R96R	NM_025055	NP_079331	Q8N5R6	CCD33_HUMAN	Homo sapiens coiled-coil domain containing 33 (CCDC33), transcript variant 1, mRNA.	706							protein binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						AGAAACTGAGGGACAGGGTGC	0.582000														29			14		0	0	0.003163	0	0
CWH43	80157	broad.mit.edu	37	4	49005952	49005952	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr4:49005952G>A	uc003gyv.3	+	6	1185	c.1003G>A	c.(1003-1005)Gct>Act	p.A335T	CWH43_uc011bzl.2_Missense_Mutation_p.A308T	NM_025087	NP_079363	Q9H720	PG2IP_HUMAN	Homo sapiens cell wall biogenesis 43 C-terminal homolog (S. cerevisiae) (CWH43), mRNA.	335					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						CTGGTGCACAGCTTTTAAGTT	0.393000														19			9		0	0	0.006214	0	0
CYP2B6	1555	broad.mit.edu	37	19	41518707	41518707	+	Silent	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr19:41518707C>T	uc002opr.1	+	7	1288	c.1281C>T	c.(1279-1281)atC>atT	p.I427I	CYP2A7_uc002opo.3_Intron|CYP2B6_uc010xvu.1_Silent_p.I227I	NM_000767	NP_000758	P20813	CP2B6_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily B, polypeptide 6 (CYP2B6), mRNA.	427					cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)	AAGCTTTTATCCCCTTCTCCT	0.463000														124			50		0	0	0.003610	0	0
ZNF438	220929	broad.mit.edu	37	10	31138998	31138998	+	Silent	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr10:31138998G>A	uc010qdz.2	-	6	771	c.336C>T	c.(334-336)tcC>tcT	p.S112S	ZNF438_uc001ivn.3_Silent_p.S63S|ZNF438_uc010qdy.2_Silent_p.S102S|ZNF438_uc001ivo.4_Intron|ZNF438_uc009xlg.3_Silent_p.S112S|ZNF438_uc001ivp.4_Silent_p.S102S|ZNF438_uc010qea.2_Silent_p.S112S|ZNF438_uc010qeb.2_Silent_p.S112S|ZNF438_uc010qec.1_Intron	NM_182755	NP_001137241	Q7Z4V0	ZN438_HUMAN	Homo sapiens zinc finger protein 438 (ZNF438), transcript variant 2, mRNA.	112					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(175;0.0587)				TTTCAGGTAGGGACATTCTGG	0.468000														60			23		0	0	0.002780	0	0
SPATS1	221409	broad.mit.edu	37	6	44344094	44344094	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr6:44344094G>A	uc021yzz.1	+	8	860	c.759_splice	c.e8-1	p.N253_splice	TMEM151B_uc003oxg.3_Splice_Site|SPATS1_uc010jzb.3_Splice_Site_p.N138_splice|SPATS1_uc003oxk.3_Splice_Site_p.N253_splice	NM_145026	NP_659463	Q496A3	SPAS1_HUMAN	Homo sapiens spermatogenesis associated, serine-rich 1 (SPATS1), mRNA.	253										NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(5)|skin(1)|urinary_tract(1)	14	all_lung(25;0.00469)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TCTTCCCACAGCTTGCCTTTC	0.443000														9			6		0	0	0.001984	0	0
PDCD1	5133	broad.mit.edu	37	2	242793385	242793385	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr2:242793385C>T	uc002wcq.4	-	4	760	c.692G>A	c.(691-693)cGa>cAa	p.R231Q	PDCD1_uc010fzs.3_Missense_Mutation_p.R110Q|PDCD1_uc010fzt.3_Non-coding_Transcript	NM_005018	NP_005009	Q15116	PDCD1_HUMAN	Homo sapiens programmed cell death 1 (PDCD1), mRNA.	231					T cell costimulation|apoptosis|humoral immune response|multicellular organismal development	integral to membrane	protein tyrosine phosphatase activity|signal transducer activity			endometrium(1)|lung(2)|ovary(1)|prostate(3)|skin(1)	8		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0219)		GGTCTTCTCTCGCCACTGGAA	0.627000														25			16		0	0	0.003163	0	0
AVEN	57099	broad.mit.edu	37	15	34159949	34159949	+	Silent	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr15:34159949G>A	uc001zhj.3	-	4	776	c.720C>T	c.(718-720)ccC>ccT	p.P240P		NM_020371	NP_065104	Q9NQS1	AVEN_HUMAN	Homo sapiens apoptosis, caspase activation inhibitor (AVEN), mRNA.	240					anti-apoptosis|apoptosis	endomembrane system|intracellular|membrane|membrane fraction	protein binding			cervix(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)|stomach(1)	7		all_lung(180;1.78e-08)		all cancers(64;1.66e-15)|GBM - Glioblastoma multiforme(113;1.42e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0359)		GCTCAAAGATGGGCCCCCTTC	0.547000														34			6		0	0	0.001984	0	0
HRH2	3274	broad.mit.edu	37	5	175111210	175111211	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr5:175111210_175111211CC>TT	uc003mdc.4	+	1	1618_1619	c.974_975CC>TT	c.(973-975)tcc>tTT	p.S325F	HRH2_uc003mdd.2_Missense_Mutation_p.S325F	NM_001131055	NP_001124527	P25021	HRH2_HUMAN	Homo sapiens histamine receptor H2 (HRH2), transcript variant 1, mRNA.	325					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)	TCTCAGCTGTCCAGGACCCAAA	0.594000														43			14		0	0	0.004672	0	0
PITPNM1	9600	broad.mit.edu	37	11	67265106	67265106	+	Silent	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr11:67265106G>A	uc001olx.3	-	11	2016	c.1827C>T	c.(1825-1827)ccC>ccT	p.P609P	PITPNM1_uc001olw.3_5'UTR|PITPNM1_uc001oly.3_Silent_p.P609P|PITPNM1_uc001olz.3_Silent_p.P609P	NM_004910	NP_004901	O00562	PITM1_HUMAN	Homo sapiens phosphatidylinositol transfer protein, membrane-associated 1 (PITPNM1), transcript variant 1, mRNA.	609					brain development|lipid metabolic process|phototransduction|protein transport	Golgi cisterna membrane|cleavage furrow|endoplasmic reticulum membrane|lipid particle|membrane fraction|midbody	metal ion binding|phosphatidylinositol transporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						CATCTGCCAGGGGGTCCCGCA	0.622000														47			22		0	0	0.003330	0	0
AFF3	3899	broad.mit.edu	37	2	100199407	100199407	+	Silent	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr2:100199407G>A	uc002taf.3	-	15	2865	c.2721C>T	c.(2719-2721)ccC>ccT	p.P907P	AFF3_uc002tag.3_Silent_p.P882P|AFF3_uc010fiq.1_Silent_p.P882P|AFF3_uc010yvr.1_Silent_p.P1035P|AFF3_uc002tah.1_Silent_p.P907P	NM_001025108	NP_001020279	P51826	AFF3_HUMAN	Homo sapiens AF4/FMR2 family, member 3 (AFF3), transcript variant 2, mRNA.	882					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						CATCAGAGAGGGGTGAGATGG	0.418000														37			15		0	0	0.006122	0	0
ACTN4	81	broad.mit.edu	37	19	39214875	39214875	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr19:39214875C>T	uc002oja.2	+	14	1890	c.1771C>T	c.(1771-1773)Cac>Tac	p.H591Y	ACTN4_uc021uug.1_Missense_Mutation_p.H372Y	NM_004924	NP_004915	O43707	ACTN4_HUMAN	Homo sapiens actinin, alpha 4 (ACTN4), mRNA.	591					platelet activation|platelet degranulation|positive regulation of cellular component movement|positive regulation of sodium:hydrogen antiporter activity|protein transport|regulation of apoptosis	extracellular region|nucleolus|perinuclear region of cytoplasm|platelet alpha granule lumen|protein complex|pseudopodium|ribonucleoprotein complex	actin filament binding|calcium ion binding|integrin binding|nucleoside binding|protein homodimerization activity			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|urinary_tract(3)	30	all_cancers(60;1.57e-05)|Ovarian(47;0.103)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CCTGGCCATCCACAAGGAGGC	0.617000														31			10		0	0	0.006214	0	0
VTCN1	79679	broad.mit.edu	37	1	117695783	117695783	+	Silent	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr1:117695783C>T	uc001ehb.3	-	3	759	c.654G>A	c.(652-654)acG>acA	p.T218T	VTCN1_uc021osn.1_Silent_p.T123T|VTCN1_uc021oso.1_Non-coding_Transcript|VTCN1_uc001ehc.3_Silent_p.T123T|VTCN1_uc009whf.2_Silent_p.T102T	NM_024626	NP_078902	Q7Z7D3	VTCN1_HUMAN	Homo sapiens V-set domain containing T cell activation inhibitor 1 (VTCN1), transcript variant 1, mRNA.	218	Ig-like V-type 2.					integral to membrane|plasma membrane				large_intestine(7)|lung(4)|upper_aerodigestive_tract(1)	12	Lung SC(450;0.225)	all_cancers(81;6.05e-06)|all_epithelial(167;5.59e-07)|all_lung(203;2.85e-06)|Lung NSC(69;2e-05)		Lung(183;0.0664)|LUSC - Lung squamous cell carcinoma(189;0.214)|Colorectal(144;0.23)		TGTTGTTGATCGTAACATTGT	0.438000														64			39		0	0	0.006230	0	0
TNP2	7142	broad.mit.edu	37	16	11361865	11361865	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr16:11361865C>T	uc002das.3	-	1	446	c.405G>A	c.(403-405)tgG>tgA	p.W135*	RMI2_uc002daq.1_Intron	NM_005425	NP_005416	Q05952	STP2_HUMAN	Homo sapiens transition protein 2 (during histone to protamine replacement) (TNP2), mRNA.	135					cell differentiation|multicellular organismal development|spermatogenesis	nucleosome|nucleus	DNA binding	p.0?(1)		large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	6						AGTTGGATTTCCATCCTAAGG	0.443000														15			6		0	0	0.004482	0	0
GAS2L2	246176	broad.mit.edu	37	17	34072179	34072179	+	Silent	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr17:34072179C>T	uc002hjv.2	-	5	2365	c.2337G>A	c.(2335-2337)agG>agA	p.R779R		NM_139285	NP_644814	Q8NHY3	GA2L2_HUMAN	Homo sapiens growth arrest-specific 2 like 2 (GAS2L2), mRNA.	779					cell cycle arrest	cytoplasm|cytoskeleton				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GGGGCCGAATCCTGGGTCTCA	0.612000														89			39		0	0	0.006230	0	0
NRAS	4893	broad.mit.edu	37	1	115256529	115256529	+	Missense_Mutation	SNP	T	C	C	rs11554290		TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr1:115256529T>C	uc009wgu.3	-	2	436	c.182A>G	c.(181-183)cAa>cGa	p.Q61R		NM_002524	NP_002515	P01111	RASN_HUMAN	Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA.	61			Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).		Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.Q61R(1713)|p.Q61K(635)|p.Q61L(370)|p.Q61H(123)|p.Q61P(46)|p.Q61E(9)|p.G60E(6)|p.Q61?(5)|p.Q61Q(3)|p.G60R(1)|p.G60>?(1)|p.Q61*(1)|p.Q61_E62>HK(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACTCTTCTTGTCCAGCTGT	0.458000	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)				83			38		0	0	0.007835	0	0
RNF125	54941	broad.mit.edu	37	18	29617132	29617132	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr18:29617132C>T	uc002kxf.1	+	1	600	c.218C>T	c.(217-219)cCt>cTt	p.P73L		NM_017831	NP_060301	Q96EQ8	RN125_HUMAN	Homo sapiens ring finger protein 125 (RNF125), mRNA.	73					negative regulation of type I interferon production	intracellular	ligase activity|zinc ion binding			endometrium(1)|lung(4)|upper_aerodigestive_tract(1)	6						TGGACCTGTCCTTATTGCCGG	0.433000														119			45		0	0	0.003610	0	0
BX647938	0	broad.mit.edu	37	12	9716769	9716769	+	RNA	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr12:9716769G>A	uc001qwb.1	+	4		c.3964G>A								Homo sapiens mRNA; cDNA DKFZp686A1124 (from clone DKFZp686A1124).																		CCTGCTCTACGAAACGCACTC	0.388000														7			4		0	0	0.000248	0	0
STAB2	55576	broad.mit.edu	37	12	104063386	104063386	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr12:104063386C>T	uc001tjw.3	+	20	2426	c.2240C>T	c.(2239-2241)cCa>cTa	p.P747L		NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	Homo sapiens stabilin 2 (STAB2), mRNA.	747	EGF-like 6.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	p.P747L(2)		NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						TTCTCAAATCCATGCTCAGGA	0.408000														70			20		0	0	0.001882	0	0
ASH2L	9070	broad.mit.edu	37	8	37986355	37986355	+	Silent	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr8:37986355C>T	uc003xkt.4	+	11	1471	c.1413C>T	c.(1411-1413)tcC>tcT	p.S471S	ASH2L_uc011lbk.2_Silent_p.S332S|ASH2L_uc003xku.4_Silent_p.S377S|ASH2L_uc010lwa.3_Silent_p.S377S	NM_004674	NP_004665	Q9UBL3	ASH2L_HUMAN	Homo sapiens ash2 (absent, small, or homeotic)-like (Drosophila) (ASH2L), transcript variant 1, mRNA.	471	B30.2/SPRY.				hemopoiesis|histone H3-K4 methylation|positive regulation of cell proliferation|regulation of transcription, DNA-dependent|response to estrogen stimulus|transcription from RNA polymerase II promoter	Set1C/COMPASS complex	metal ion binding|protein binding|transcription regulatory region DNA binding			NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|stomach(1)	19	Colorectal(12;0.000501)	Lung NSC(58;0.0295)|all_lung(54;0.0413)				TCCACCAGTCCATTGGCAAAC	0.428000														170			69		0	0	0.003610	0	0
ZNF211	10520	broad.mit.edu	37	19	58153069	58153069	+	Silent	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr19:58153069C>T	uc002qpr.2	+	5	1710	c.1407C>T	c.(1405-1407)tcC>tcT	p.S469S	ZNF211_uc010yhb.1_Silent_p.S409S|ZNF211_uc002qpp.2_Silent_p.S418S|ZNF211_uc002qpq.2_Silent_p.S405S|ZNF211_uc002qpt.2_Silent_p.S417S|ZNF211_uc010yhc.1_Silent_p.S417S|ZNF211_uc010yhe.1_Silent_p.S396S|ZNF211_uc010yhd.1_Silent_p.S344S	NM_006385	NP_006376	Q13398	ZN211_HUMAN	Homo sapiens zinc finger protein 211 (ZNF211), transcript variant 1, mRNA.	405						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GTGGAAAATCCTTTAGCCGAA	0.458000														34			20		0	0	0.002299	0	0
MYH1	4619	broad.mit.edu	37	17	10415854	10415854	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr17:10415854C>T	uc002gmo.3	-	11	1112	c.1018G>A	c.(1018-1020)Gaa>Aaa	p.E340K	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	340	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						CCCAGAATTTCAATGGCACTC	0.398000														35			10		0	0	0.000673	0	0
DISP2	85455	broad.mit.edu	37	15	40661934	40661934	+	Silent	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr15:40661934C>T	uc001zlk.1	+	7	3710	c.3621C>T	c.(3619-3621)ccC>ccT	p.P1207P		NM_033510	NP_277045	A7MBM2	DISP2_HUMAN	Homo sapiens dispatched homolog 2 (Drosophila) (DISP2), mRNA.	1207					smoothened signaling pathway	integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		GTTCCCGGCCCCCACCAGCCC	0.647000														37			24		0	0	0.002299	0	0
SLC1A6	6511	broad.mit.edu	37	19	15079140	15079140	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr19:15079140C>T	uc002naa.1	-	2	530	c.523G>A	c.(523-525)Gct>Act	p.A175T	SLC1A6_uc010dzu.1_Missense_Mutation_p.A175T|SLC1A6_uc010xod.1_Intron|SLC1A6_uc002nab.3_Missense_Mutation_p.A175T|SLC1A6_uc002nac.3_Missense_Mutation_p.A175T|SLC1A6_uc002nad.1_Missense_Mutation_p.A175T	NM_005071	NP_005062	P48664	EAA4_HUMAN	Homo sapiens solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6 (SLC1A6), mRNA.	175					synaptic transmission	integral to plasma membrane|membrane fraction	L-aspartate transmembrane transporter activity|high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42					L-Glutamic Acid(DB00142)	AAGGCATCAGCTGTGGGGATG	0.507000														14			4		0	0	0.000248	0	0
CATSPER3	347732	broad.mit.edu	37	5	134347254	134347254	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr5:134347254A>G	uc003lag.3	+	7	1224	c.1138A>G	c.(1138-1140)Atg>Gtg	p.M380V		NM_178019	NP_821138	Q86XQ3	CTSR3_HUMAN	Homo sapiens cation channel, sperm associated 3 (CATSPER3), mRNA.	380					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity			NS(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1)|urinary_tract(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GCTGAGCCTAATGCTGGAAGA	0.552000														23			7		0	0	0.004482	0	0
EPB41L4B	54566	broad.mit.edu	37	9	112030709	112030709	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr9:112030709C>T	uc004bdz.1	-	2	711	c.416G>A	c.(415-417)tGg>tAg	p.W139*	EPB41L4B_uc004bea.3_Nonsense_Mutation_p.W139*	NM_019114	NP_061987	Q9H329	E41LB_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1 like 4B (EPB41L4B), transcript variant 2, mRNA.	139	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						ATGATCCAGCCAGTGCTGAAA	0.368000														4			8		0	0	0.004482	0	0
WDR93	56964	broad.mit.edu	37	15	90281396	90281396	+	Silent	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr15:90281396G>A	uc002boj.3	+	15	1991	c.1890G>A	c.(1888-1890)agG>agA	p.R630R	WDR93_uc010bnr.3_Silent_p.R602R|WDR93_uc010upz.2_Silent_p.R347R	NM_020212	NP_064597	Q6P2C0	WDR93_HUMAN	Homo sapiens WD repeat domain 93 (WDR93), mRNA.	630					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)			TTCCTCAAAGGGACTTGGATA	0.468000														141			65		0	0	0.003610	0	0
ZNF462	58499	broad.mit.edu	37	9	109690165	109690165	+	Silent	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr9:109690165C>T	uc004bcz.3	+	2	4261	c.3972C>T	c.(3970-3972)ccC>ccT	p.P1324P	MIR548Q_uc022bli.1_Intron|ZNF462_uc010mto.3_Silent_p.P1172P|ZNF462_uc004bda.3_Silent_p.P1172P	NM_021224	NP_067047	Q96JM2	ZN462_HUMAN	Homo sapiens zinc finger protein 462 (ZNF462), mRNA.	1324					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						ATACGGAGCCCAACGGTTTGC	0.527000														23			30		0	0	0.007291	0	0
TATDN1	83940	broad.mit.edu	37	8	125520732	125520732	+	Missense_Mutation	SNP	G	A	A	rs148032742	byFrequency	TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr8:125520732G>A	uc003yrd.2	-	7	541	c.499C>T	c.(499-501)Cgg>Tgg	p.R167W	TATDN1_uc003yre.2_Non-coding_Transcript|TATDN1_uc010mdm.2_Missense_Mutation_p.R120W	NM_032026	NP_001139632	Q6P1N9	TATD1_HUMAN	Homo sapiens TatD DNase domain containing 1 (TATDN1), transcript variant 1, mRNA.	167						nucleus	endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	15	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			CCTACACACCGATCTCTATTT	0.318000														20			16		0	0	0.001523	0	0
TCEB3	6924	broad.mit.edu	37	1	24077804	24077804	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr1:24077804G>A	uc001bho.3	+	3	847	c.787G>A	c.(787-789)Ggg>Agg	p.G263R		NM_003198	NP_003189	Q14241	ELOA1_HUMAN	Homo sapiens transcription elongation factor B (SIII), polypeptide 3 (110kDa, elongin A) (TCEB3), mRNA.	263					positive regulation of viral transcription|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|viral reproduction	integral to membrane	DNA binding	p.K262E(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		CCATGGGAAAGGGGTTGTGAG	0.542000											OREG0013232	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		36			21		0	0	0.001523	0	0
PTDSS2	81490	broad.mit.edu	37	11	479146	479146	+	Silent	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr11:479146C>T	uc001lpj.3	+	3	605	c.429C>T	c.(427-429)ctC>ctT	p.L143L	PTDSS2_uc009ybv.1_Silent_p.L143L	NM_030783	NP_110410	Q9BVG9	PTSS2_HUMAN	Homo sapiens phosphatidylserine synthase 2 (PTDSS2), mRNA.	143						integral to membrane				autonomic_ganglia(1)|breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(1)	9		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;2.76e-26)|Epithelial(43;2.56e-25)|OV - Ovarian serous cystadenocarcinoma(40;7.54e-20)|BRCA - Breast invasive adenocarcinoma(625;8.76e-05)|Lung(200;0.0407)|LUSC - Lung squamous cell carcinoma(625;0.0735)	Phosphatidylserine(DB00144)	TCTTTATACTCTTCCAGGTAA	0.532000														99			56		0	0	0.003610	0	0
CCNH	902	broad.mit.edu	37	5	86703870	86703870	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr5:86703870G>A	uc003kjb.3	-	3	687	c.448C>T	c.(448-450)Ctt>Ttt	p.L150F	CCNH_uc003kiy.1_Non-coding_Transcript|CCNH_uc003kiz.1_Missense_Mutation_p.L97F|CCNH_uc003kja.3_Missense_Mutation_p.L97F	NM_001239	NP_001186118	P51946	CCNH_HUMAN	Homo sapiens cyclin H (CCNH), transcript variant 1, mRNA.	150					G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|S phase of mitotic cell cycle|mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	cyclin-dependent protein kinase activating kinase holoenzyme complex|holo TFIIH complex	protein kinase binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(2)|ovary(2)	15		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;9.01e-39)|Epithelial(54;5.08e-33)|all cancers(79;4.28e-28)		TGCTGTATAAGAAGTAGTTCA	0.393000								Direct reversal of damage;Direct reversal of damage;Nucleotide excision repair (NER)						59			19		0	0	0.001216	0	0
ADAMTS19	171019	broad.mit.edu	37	5	128983524	128983524	+	Silent	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr5:128983524C>T	uc003kvb.1	+	11	1921	c.1921C>T	c.(1921-1923)Ctg>Ttg	p.L641L	ADAMTS19_uc010jdh.1_Non-coding_Transcript	NM_133638	NP_598377	Q8TE59	ATS19_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 19 (ADAMTS19), mRNA.	641	TSP type-1 1.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		AGAGTGGAGCCTGTGGAGTCC	0.522000														85			40		0	0	0.001951	0	0
SYN1	6853	broad.mit.edu	37	X	47466579	47466579	+	Silent	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chrX:47466579C>T	uc004die.3	-	1	525	c.396G>A	c.(394-396)ggG>ggA	p.G132G	SYN1_uc004did.3_Silent_p.G132G	NM_006950	NP_008881	P17600	SYN1_HUMAN	Homo sapiens synapsin I (SYN1), transcript variant Ia, mRNA.	132	C; actin-binding and synaptic-vesicle binding.					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						GGATCTTTTTCCCTTTGAAGT	0.438000														4			16		0	0	0.006122	0	0
RGS22	26166	broad.mit.edu	37	8	101075873	101075873	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr8:101075873C>T	uc003yjb.1	-	7	1318	c.1123G>A	c.(1123-1125)Gag>Aag	p.E375K	RGS22_uc003yja.1_Missense_Mutation_p.E194K|RGS22_uc003yjc.1_Missense_Mutation_p.E363K|RGS22_uc011lgz.1_Non-coding_Transcript|RGS22_uc010mbo.1_Non-coding_Transcript|RGS22_uc022azh.1_Missense_Mutation_p.E279K	NM_015668	NP_056483	Q8NE09	RGS22_HUMAN	Homo sapiens regulator of G-protein signaling 22 (RGS22), mRNA.	375					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			TCTGACCTCTCCTTTGTAGTT	0.353000														30			15		0	0	0.002450	0	0
SLC52A2	79581	broad.mit.edu	37	8	145584131	145584131	+	Silent	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr8:145584131C>T	uc003zcc.2	+	2	1143	c.979C>T	c.(979-981)Ctg>Ttg	p.L327L	FBXL6_uc003zbz.3_5'Flank|FBXL6_uc003zca.3_5'Flank|FBXL6_uc003zcb.3_5'Flank|FBXL6_uc010mfx.3_5'Flank|SLC52A2_uc003zce.2_Silent_p.L327L|SLC52A2_uc010mfy.2_Silent_p.L327L|SLC52A2_uc011llc.2_Silent_p.L239L|SLC52A2_uc003zcd.2_Silent_p.L327L	NM_001253816	NP_001240745	Q9HAB3	RFT3_HUMAN	Homo sapiens G protein-coupled receptor 172A (GPR172A), transcript variant 3, mRNA.	327						integral to plasma membrane	receptor activity|riboflavin transporter activity										GGCCTGCTTCCTGGCCATGGG	0.657000														61			27		0	0	0.001786	0	0
GPCPD1	56261	broad.mit.edu	37	20	5548169	5548169	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr20:5548169G>A	uc002wme.4	-	12	1400	c.1187C>T	c.(1186-1188)cCa>cTa	p.P396L	GPCPD1_uc002wmd.4_Missense_Mutation_p.P215L	NM_019593	NP_062539	Q9NPB8	GPCP1_HUMAN	Homo sapiens glycerophosphocholine phosphodiesterase GDE1 homolog (S. cerevisiae) (GPCPD1), mRNA.	396	GDPD.				glycerol metabolic process|lipid metabolic process		carbohydrate binding|glycerophosphodiester phosphodiesterase activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|skin(1)	16						TTCTTTTACTGGAATTTCAAA	0.249000														71			32		0	0	0.003755	0	0
NPC1	4864	broad.mit.edu	37	18	21119887	21119887	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr18:21119887C>T	uc002kum.4	-	17	2957	c.2683G>A	c.(2683-2685)Gaa>Aaa	p.E895K	NPC1_uc010xaz.2_Missense_Mutation_p.E628K|NPC1_uc010xba.1_Missense_Mutation_p.E740K	NM_000271	NP_000262	O15118	NPC1_HUMAN	Homo sapiens Niemann-Pick disease, type C1 (NPC1), mRNA.	895					autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport	endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm	hedgehog receptor activity|protein binding|sterol transporter activity			breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					TCGTGCCCTTCCTCCAGGACA	0.502000														54			31		0	0	0.004878	0	0
STEAP4	79689	broad.mit.edu	37	7	87913151	87913151	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr7:87913151C>T	uc022agz.1	-	2	657	c.434G>A	c.(433-435)gGa>gAa	p.G145E	STEAP4_uc003ujs.3_Missense_Mutation_p.G145E|STEAP4_uc010lek.3_Missense_Mutation_p.G145E	NM_001205315	NP_001192244	Q687X5	STEA4_HUMAN	Homo sapiens STEAP family member 4 (STEAP4), transcript variant 2, mRNA.	145					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)					ATCCAGTGCTCCTGACTGGAG	0.418000														23			29		0	0	0.002445	0	0
CNTNAP2	26047	broad.mit.edu	37	7	147926752	147926752	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr7:147926752C>T	uc003weu.2	+	19	3778	c.3262C>T	c.(3262-3264)Cga>Tga	p.R1088*		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	1088	Laminin G-like 4.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	p.R1088*(2)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CTTACAGATTCGATACAACCT	0.443000										HNSCC(39;0.1)				11			13		0	0	0.001368	0	0
MUC16	94025	broad.mit.edu	37	19	9049043	9049043	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr19:9049043G>A	uc002mkp.3	-	4	32792	c.32588C>T	c.(32587-32589)tCa>tTa	p.S10863L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	10865	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						TGGAACAGCTGAACTGGATTC	0.473000														49			24		0	0	0.003330	0	0
SEC14L4	284904	broad.mit.edu	37	22	30888480	30888480	+	Silent	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr22:30888480C>T	uc003aid.2	-	7	745	c.645G>A	c.(643-645)agG>agA	p.R215R	SEC14L4_uc011akz.1_Silent_p.R215R|SEC14L4_uc003aie.2_Silent_p.R200R|SEC14L4_uc003aif.2_Silent_p.R161R	NM_174977	NP_777637	Q9UDX3	S14L4_HUMAN	Homo sapiens SEC14-like 4 (S. cerevisiae) (SEC14L4), transcript variant 1, mRNA.	215	CRAL-TRIO.					integral to membrane|intracellular	lipid binding|transporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|pancreas(1)|skin(1)	21					Vitamin E(DB00163)	TCACAATCTTCCTGCGTGTCT	0.537000														14			9		0	0	0.006214	0	0
AKR1C2	1646	broad.mit.edu	37	10	5042756	5042756	+	Missense_Mutation	SNP	G	A	A	rs139521690		TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr10:5042756G>A	uc001ihs.3	-	4	768	c.355C>T	c.(355-357)Cca>Tca	p.P119S	AKR1C3_uc001ihr.3_Intron|AKR1C2_uc009xhy.3_Missense_Mutation_p.P119S|AKR1C2_uc001iht.3_Missense_Mutation_p.P119S|AKR1C2_uc010qao.2_Missense_Mutation_p.P119S	NM_001354	NP_001345	P52895	AK1C2_HUMAN	Homo sapiens aldo-keto reductase family 1, member C2 (dihydrodiol dehydrogenase 2; bile acid binding protein; 3-alpha hydroxysteroid dehydrogenase, type III) (AKR1C2), transcript variant 1, mRNA.	119					digestion|prostaglandin metabolic process|steroid metabolic process	cytoplasm	androsterone dehydrogenase (A-specific) activity|bile acid binding|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity			breast(1)|large_intestine(5)|lung(3)|skin(1)	10					NADH(DB00157)|Ursodeoxycholic acid(DB01586)	ACAGACACTGGAAAATGAATA	0.378000														33			17		0	0	0.001523	0	0
OR1A1	8383	broad.mit.edu	37	17	3119772	3119772	+	Silent	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr17:3119772C>T	uc010vrc.2	+	0	858	c.858C>T	c.(856-858)ttC>ttT	p.F286F		NM_014565	NP_055380	Q9P1Q5	OR1A1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily A, member 1 (OR1A1), mRNA.	286					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F286S(1)|p.P285S(1)		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						TAAATCCTTTCATCTACAGTC	0.473000														69			28		0	0	0.007291	0	0
DNAH1	25981	broad.mit.edu	37	3	52426493	52426493	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr3:52426493C>T	uc011bef.2	+	63	10327	c.10066C>T	c.(10066-10068)Cag>Tag	p.Q3356*	DNAH1_uc003ddv.3_Nonsense_Mutation_p.Q214*	NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	Homo sapiens dynein, axonemal, heavy chain 1 (DNAH1), mRNA.	3421	AAA 5 (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)		CCTAGAGGACCAGCTACTGGG	0.612000														33			9		0	0	0.006214	0	0
SHISA3	152573	broad.mit.edu	37	4	42403086	42403086	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr4:42403086T>G	uc003gwp.3	+	1	553	c.335T>G	c.(334-336)cTg>cGg	p.L112R		NM_001080505	NP_001073974	A0PJX4	SHSA3_HUMAN	Homo sapiens shisa homolog 3 (Xenopus laevis) (SHISA3), mRNA.	112					multicellular organismal development	endoplasmic reticulum membrane|integral to membrane				endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	12						TTCATCATCCTGGGCTCTGTA	0.502000														90			57		0	0	0.003610	0	0
MAGEC1	9947	broad.mit.edu	37	X	140994718	140994718	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chrX:140994718C>T	uc004fbt.3	+	3	1852	c.1528C>T	c.(1528-1530)Ccc>Tcc	p.P510S	MAGEC1_uc010nsl.2_Intron|MAGEC1_uc022cfi.1_Missense_Mutation_p.P169S	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	510							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)					TGAGGGTTTTCCCCAGTCTCC	0.507000										HNSCC(15;0.026)				25			55		0	0	0.003610	0	0
GRM7	2917	broad.mit.edu	37	3	7620766	7620766	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr3:7620766C>T	uc003bqm.2	+	7	2447	c.2173C>T	c.(2173-2175)Cca>Tca	p.P725S	GRM7_uc011ata.1_Non-coding_Transcript|GRM7_uc011atb.1_Non-coding_Transcript|GRM7_uc010hcf.2_Non-coding_Transcript|GRM7_uc011atc.1_Non-coding_Transcript|GRM7_uc010hcg.2_Missense_Mutation_p.P725S|GRM7_uc003bql.2_Missense_Mutation_p.P725S|GRM7_uc003bqn.1_Missense_Mutation_p.P308S|GRM7_uc010hch.1_Missense_Mutation_p.P236S	NM_000844	NP_000835	Q14831	GRM7_HUMAN	Homo sapiens glutamate receptor, metabotropic 7 (GRM7), transcript variant 1, mRNA.	725					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	PDZ domain binding|adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	TGGTGTTGATCCACCCAACAT	0.433000														35			14		0	0	0.002450	0	0
PIP5K1P1	206426	broad.mit.edu	37	6	7987565	7987565	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr6:7987565C>T	uc003mxx.4	+	0	1231	c.796C>T	c.(796-798)Ccc>Tcc	p.P266S	TXNDC5_uc003mxw.3_Intron					Homo sapiens phosphatidylinositol-4-phosphate 5-kinase, type I, pseudogene 1 (PIP5K1P1), non-coding RNA.																		GAAGCCTCTTCCCACATTTAA	0.448000														16			10		0	0	0.006214	0	0
NLRP14	338323	broad.mit.edu	37	11	7063624	7063624	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr11:7063624G>A	uc001mfb.1	+	3	690	c.367G>A	c.(367-369)Gga>Aga	p.G123R		NM_176822	NP_789792	Q86W24	NAL14_HUMAN	Homo sapiens NLR family, pyrin domain containing 14 (NLRP14), mRNA.	123					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		CTTAGGTGATGGAACAGAATA	0.343000														44			26		0	0	0.007291	0	0
SGSM1	129049	broad.mit.edu	37	22	25264699	25264699	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr22:25264699T>C	uc003abg.2	+	11	1325	c.1168T>C	c.(1168-1170)Ttt>Ctt	p.F390L	SGSM1_uc010guu.1_Missense_Mutation_p.F390L|SGSM1_uc003abh.2_Missense_Mutation_p.F390L|SGSM1_uc003abj.2_Missense_Mutation_p.F390L|SGSM1_uc003abi.1_Missense_Mutation_p.F365L	NM_001039948	NP_001035037	Q2NKQ1	SGSM1_HUMAN	Homo sapiens small G protein signaling modulator 1 (SGSM1), transcript variant 1, mRNA.	390						Golgi apparatus	Rab GTPase activator activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						GGGCAAAGTGTTTCCTAAACT	0.498000														65			32		0	0	0.002836	0	0
NDST4	64579	broad.mit.edu	37	4	115767017	115767017	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr4:115767017G>A	uc003ibu.3	-	9	2756	c.2077C>T	c.(2077-2079)Ctc>Ttc	p.L693F	NDST4_uc010imw.3_Non-coding_Transcript	NM_022569	NP_072091	Q9H3R1	NDST4_HUMAN	Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 (NDST4), mRNA.	693	Heparan sulfate N-sulfotransferase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		GGGTCAATGAGGATGGTGATG	0.428000														51			29		0	0	0.006999	0	0
SPTBN2	6712	broad.mit.edu	37	11	66458762	66458762	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr11:66458762C>T	uc001ojd.3	-	25	5630	c.5558G>A	c.(5557-5559)aGc>aAc	p.S1853N		NM_006946	NP_008877	O15020	SPTN2_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 2 (SPTBN2), mRNA.	1853					actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						GACCTGGGGGCTGAGGGCCTG	0.647000														83			31		0	0	0.003755	0	0
MASP1	5648	broad.mit.edu	37	3	186943152	186943152	+	Silent	SNP	G	A	A	rs147189329	by1000genomes	TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr3:186943152G>A	uc003frh.2	-	12	2091	c.1701C>T	c.(1699-1701)ttC>ttT	p.F567F		NM_001879	NP_001870	P48740	MASP1_HUMAN	Homo sapiens mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor) (MASP1), transcript variant 1, mRNA.	567	Peptidase S1.				complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		TGGGCATCACGAAGGCATTCA	0.582000														57			48		0	0	0.003610	0	0
ZMYND12	84217	broad.mit.edu	37	1	42898933	42898933	+	Missense_Mutation	SNP	G	A	A	rs143355029	byFrequency	TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr1:42898933G>A	uc001chj.3	-	6	1126	c.856C>T	c.(856-858)Cgc>Tgc	p.R286C	ZMYND12_uc010ojt.2_Missense_Mutation_p.R176C	NM_032257	NP_115633	Q9H0C1	ZMY12_HUMAN	Homo sapiens zinc finger, MYND-type containing 12 (ZMYND12), transcript variant 1, mRNA.	286						intracellular	zinc ion binding			NS(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|skin(2)	17	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GTCAGGATGCGAATGGCTTCT	0.448000														104			64		0	0	0.003610	0	0
PRLR	5618	broad.mit.edu	37	5	35070327	35070327	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr5:35070327C>A	uc003jjm.3	-	6	1143	c.584G>T	c.(583-585)aGc>aTc	p.S195I	PRLR_uc003jjk.1_Missense_Mutation_p.S124I|PRLR_uc003jjg.2_Missense_Mutation_p.S195I|PRLR_uc003jjh.2_Missense_Mutation_p.S195I|PRLR_uc003jji.2_Missense_Mutation_p.S124I|PRLR_uc003jjj.2_Missense_Mutation_p.S195I|PRLR_uc003jjl.4_Missense_Mutation_p.S94I|PRLR_uc021xxl.1_Missense_Mutation_p.S195I|PRLR_uc010iuw.1_Missense_Mutation_p.S124I	NM_000949	NP_000940	P16471	PRLR_HUMAN	Homo sapiens prolactin receptor (PRLR), transcript variant 1, mRNA.	195	Fibronectin type-III 2.				T cell activation|activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	TGGATGTAGGCTGAGAATCTT	0.428000														29			11		9.70103e-10	1.8878e-09	0.000673	1	0
PACSIN1	29993	broad.mit.edu	37	6	34499498	34499498	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr6:34499498G>A	uc003ojo.3	+	8	1417	c.1159G>A	c.(1159-1161)Gga>Aga	p.G387R	PACSIN1_uc003ojp.3_Missense_Mutation_p.G387R	NM_020804	NP_065855	Q9BY11	PACN1_HUMAN	Homo sapiens protein kinase C and casein kinase substrate in neurons 1 (PACSIN1), transcript variant 1, mRNA.	387	SH3.				endocytosis		protein kinase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)	13						CGACTCCAAGGGAGTGCGCGT	0.657000														81			37		0	0	0.007835	0	0
ZSCAN5B	342933	broad.mit.edu	37	19	56701796	56701796	+	Silent	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr19:56701796G>A	uc010ygh.2	-	3	888	c.888C>T	c.(886-888)ccC>ccT	p.P296P		NM_001080456	NP_001073925	A6NJL1	ZSA5B_HUMAN	Homo sapiens zinc finger and SCAN domain containing 5B (ZSCAN5B), mRNA.	296					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						TGCTTCTTTTGGGACTGCTCA	0.517000														106			53		0	0	0.003610	0	0
PLEKHA7	144100	broad.mit.edu	37	11	16872745	16872745	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr11:16872745G>A	uc010rcu.1	-	7	704	c.689C>T	c.(688-690)tCc>tTc	p.S230F	PLEKHA7_uc001mmo.3_Missense_Mutation_p.S230F	NM_175058	NP_778228	Q6IQ23	PKHA7_HUMAN	Homo sapiens pleckstrin homology domain containing, family A member 7 (PLEKHA7), mRNA.	230	PH.				epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						TACCTTAAAGGAATATTTGCG	0.507000														36			20		0	0	0.003330	0	0
NCKAP5L	57701	broad.mit.edu	37	12	50189157	50189157	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr12:50189157C>G	uc009zlk.2	-	7	2688	c.2486G>C	c.(2485-2487)cGa>cCa	p.R829P	NCKAP5L_uc001rvc.3_Missense_Mutation_p.R33P|NCKAP5L_uc001rvb.2_Missense_Mutation_p.R422P	NM_001037806	NP_001032895	Q9HCH0	NCK5L_HUMAN	Homo sapiens NCK-associated protein 5-like (NCKAP5L), mRNA.	825	Pro-rich.									central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						AGCCCCAGGTCGAGGCACCAC	0.627000														52			21		0	0	0.001523	0	0
CDC25A	993	broad.mit.edu	37	3	48215944	48215944	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr3:48215944T>A	uc003csh.1	-	8	1124	c.760A>T	c.(760-762)Aac>Tac	p.N254Y	CDC25A_uc003csi.1_Missense_Mutation_p.N214Y|CDC25A_uc021wxk.1_Missense_Mutation_p.N213Y	NM_001789	NP_001780	P30304	MPIP1_HUMAN	Homo sapiens cell division cycle 25 homolog A (S. pombe) (CDC25A), transcript variant 1, mRNA.	254					DNA replication|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint|cell division|cell proliferation|cellular response to UV|mitosis|regulation of cyclin-dependent protein kinase activity	cytosol|nucleoplasm	protein binding|protein tyrosine phosphatase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.000685)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)		TTGCATCGGTTGTCCTTACAG	0.458000														38			17		0	0	0.006122	0	0
LRP6	4040	broad.mit.edu	37	12	12315233	12315233	+	Nonsense_Mutation	SNP	C	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr12:12315233C>A	uc001rah.4	-	9	2315	c.2173G>T	c.(2173-2175)Gga>Tga	p.G725*	BCL2L14_uc001raf.1_Intron|LRP6_uc010shl.1_Nonsense_Mutation_p.G725*	NM_002336	NP_002327	O75581	LRP6_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 6 (LRP6), mRNA.	725	Beta-propeller 3.				Wnt receptor signaling pathway involved in dorsal/ventral axis specification|cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	Wnt-protein binding|coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				CGATTCGTTCCTGTGTCTGCC	0.507000														609			10		0.000978159	0.00189102	0.000978	1	0
GRM7	2917	broad.mit.edu	37	3	7340399	7340399	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr3:7340399A>T	uc003bqm.2	+	2	1039	c.765A>T	c.(763-765)agA>agT	p.R255S	GRM7_uc011ata.1_Non-coding_Transcript|GRM7_uc011atb.1_Non-coding_Transcript|GRM7_uc010hcf.2_Non-coding_Transcript|GRM7_uc011atc.1_Non-coding_Transcript|GRM7_uc010hcg.2_Missense_Mutation_p.R255S|GRM7_uc003bql.2_Missense_Mutation_p.R255S|GRM7_uc003bqn.1_5'UTR	NM_000844	NP_000835	Q14831	GRM7_HUMAN	Homo sapiens glutamate receptor, metabotropic 7 (GRM7), transcript variant 1, mRNA.	255					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	PDZ domain binding|adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|serine binding	p.V254M(1)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	AGTCCGTGAGAATCCCCCAGG	0.473000														38			18		0	0	0.007413	0	0
CBLN2	147381	broad.mit.edu	37	18	70205589	70205589	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr18:70205589C>T	uc002lku.2	-	3	732	c.497G>A	c.(496-498)gGc>gAc	p.G166D	CBLN2_uc002lkv.2_Missense_Mutation_p.G166D	NM_182511	NP_872317	Q8IUK8	CBLN2_HUMAN	Homo sapiens cerebellin 2 precursor (CBLN2), mRNA.	166	C1q.					integral to membrane				endometrium(2)|lung(15)	17		Esophageal squamous(42;0.131)				CACTGGGTAGCCATTCTGCAT	0.502000														53			23		0	0	0.004656	0	0
FRG1	2483	broad.mit.edu	37	4	190876288	190876288	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr4:190876288G>A	uc003izs.3	+	4	605	c.414G>A	c.(412-414)tgG>tgA	p.W138*		NM_004477	NP_004468	Q14331	FRG1_HUMAN	Homo sapiens FSHD region gene 1 (FRG1), mRNA.	138					rRNA processing	Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus				NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)		GAGAACAATGGGAACCAGTCT	0.348000														104			6		0	0	0.003080	0	0
MMS22L	253714	broad.mit.edu	37	6	97610003	97610003	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr6:97610003G>A	uc003ppb.3	-	21	3526	c.3260C>T	c.(3259-3261)cCt>cTt	p.P1087L	MIR548H3_uc021zda.1_Intron|MMS22L_uc011eaf.2_Missense_Mutation_p.P1047L	NM_198468	NP_940870	Q6ZRQ5	MMS22_HUMAN	Homo sapiens MMS22-like, DNA repair protein (MMS22L), mRNA.	1087					double-strand break repair via homologous recombination|replication fork processing	nuclear replication fork	protein binding			breast(1)|endometrium(9)|kidney(2)|large_intestine(12)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	50						TGCTAAGCGAGGAGGAGGTGA	0.413000														26			16		0	0	0.006122	0	0
ZNF783	100289678	broad.mit.edu	37	7	148963740	148963741	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr7:148963740_148963741GG>AA	uc011kuo.2	+	1	502_503	c.339_340GG>AA	c.(337-342)ctggag>ctAAag	p.E114K	AF035281_uc003wfr.4_Non-coding_Transcript	NM_001195220	NP_001182149	C9J9J2	C9J9J2_HUMAN	Homo sapiens zinc finger family member 783 (ZNF783), mRNA.	114					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)	22	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.0014)			AGAGGCGGCTGGAGAATGTGGA	0.649000														65			21		0	0	0.004672	0	0
MACROD2	140733	broad.mit.edu	37	20	15480424	15480424	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr20:15480424C>T	uc002wou.3	+	7	841	c.577C>T	c.(577-579)Ccc>Tcc	p.P193S	MACROD2_uc002wot.3_Missense_Mutation_p.P193S|MACROD2_uc002woz.3_5'UTR	NM_080676	NP_542407	A1Z1Q3	MACD2_HUMAN	Homo sapiens MACRO domain containing 2 (MACROD2), transcript variant 1, mRNA.	193	Macro.									breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1)	20		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)				TCTAGGCTTTCCCAACGAGCC	0.438000														31			18		0	0	0.001216	0	0
ST6GALNAC5	81849	broad.mit.edu	37	1	77510200	77510200	+	Silent	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr1:77510200C>T	uc001dhi.3	+	2	748	c.573C>T	c.(571-573)ctC>ctT	p.L191L	ST6GALNAC5_uc010ori.2_Intron|ST6GALNAC5_uc009wbw.3_Non-coding_Transcript	NM_030965	NP_112227	Q9BVH7	SIA7E_HUMAN	Homo sapiens ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1, 3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5 (ST6GALNAC5), mRNA.	191					protein glycosylation	integral to Golgi membrane	sialyltransferase activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	18						ACCTGCATCTCCTGAGCCAGG	0.587000														82			42		0	0	0.002222	0	0
RFPL1	5988	broad.mit.edu	37	22	29837591	29837592	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr22:29837591_29837592GG>AA	uc003afn.3	+	1	643_644	c.434_435GG>AA	c.(433-435)agg>aAA	p.R145K	RFPL1-AS1_uc003afm.2_Non-coding_Transcript	NM_021026	NP_066306	O75677	RFPL1_HUMAN	Homo sapiens ret finger protein-like 1 (RFPL1), mRNA.	145	B30.2/SPRY.						zinc ion binding			endometrium(3)|large_intestine(1)|lung(6)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	16						GACGACCTCAGGAGCGTCCGAA	0.505000														36			13		0	0	0.004672	0	0
HIP1	3092	broad.mit.edu	37	7	75174449	75174449	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr7:75174449G>A	uc003uds.2	-	25	2642	c.2597C>T	c.(2596-2598)tCt>tTt	p.S866F	HIP1_uc011kfz.2_Missense_Mutation_p.S815F	NM_005338	NP_005329	O00291	HIP1_HUMAN	Homo sapiens huntingtin interacting protein 1 (HIP1), transcript variant 1, mRNA.	866	I/LWEQ.				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	p.K866N(1)		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						TGTCCATCGAGAGTTCTTGGC	0.463000			T	PDGFRB	CMML									56			41		0	0	0.003610	0	0
VAT1L	57687	broad.mit.edu	37	16	77918561	77918561	+	Silent	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr16:77918561C>T	uc002ffg.1	+	6	1036	c.939C>T	c.(937-939)atC>atT	p.I313I		NM_020927	NP_065978	Q9HCJ6	VAT1L_HUMAN	Homo sapiens vesicle amine transport protein 1 homolog (T. californica)-like (VAT1L), mRNA.	313							oxidoreductase activity|zinc ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(10)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						ACAAAGTCATCGCGGGGTTTT	0.507000														11			9		0	0	0.000978	0	0
GPR158	57512	broad.mit.edu	37	10	25886961	25886961	+	Silent	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr10:25886961C>T	uc001isj.3	+	10	2466	c.2406C>T	c.(2404-2406)tcC>tcT	p.S802S	GPR158_uc001isk.3_Silent_p.S177S	NM_020752	NP_065803	Q5T848	GP158_HUMAN	Homo sapiens G protein-coupled receptor 158 (GPR158), mRNA.	802						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						CAGGGAAATCCAAGGAGGAGA	0.542000														36			15		0	0	0.003163	0	0
ALCAM	214	broad.mit.edu	37	3	105271424	105271424	+	Silent	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr3:105271424G>A	uc003dvx.3	+	13	2355	c.1659G>A	c.(1657-1659)aaG>aaA	p.K553K	ALCAM_uc003dvw.2_Silent_p.K553K|ALCAM_uc003dvy.3_Silent_p.K540K|ALCAM_uc010hpp.3_Silent_p.K275K|ALCAM_uc003dvz.3_Silent_p.K187K	NM_001627	NP_001618	Q13740	CD166_HUMAN	Homo sapiens activated leukocyte cell adhesion molecule (ALCAM), transcript variant 1, mRNA.	553					cell adhesion|signal transduction	integral to membrane	receptor binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						ACATGAAGAAGTCAAAGTGAG	0.418000														44			20		0	0	0.001216	0	0
OR4K5	79317	broad.mit.edu	37	14	20389385	20389385	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr14:20389385C>T	uc010tkw.2	+	0	620	c.620C>T	c.(619-621)tCc>tTc	p.S207F		NM_001005483	NP_001005483	Q8NGD3	OR4K5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 5 (OR4K5), mRNA.	207					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)		GGAATTCTTTCCCTAAGCACT	0.418000														77			48		0	0	0.003610	0	0
C3orf23	285343	broad.mit.edu	37	3	44441962	44441962	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr3:44441962C>T	uc003cnd.4	+	8	1428	c.1001C>T	c.(1000-1002)cCa>cTa	p.P334L	C3orf23_uc010him.3_Missense_Mutation_p.P334L|C3orf23_uc003cne.4_Missense_Mutation_p.P190L	NM_173826	NP_776187	Q8N3R3	CC023_HUMAN	Homo sapiens chromosome 3 open reading frame 23 (C3orf23), transcript variant 1, mRNA.	334						mitochondrion				breast(2)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16				KIRC - Kidney renal clear cell carcinoma(197;0.0468)|Kidney(197;0.0585)		GAATTACAGCCAGTATTGACA	0.338000														45			18		0	0	0.006122	0	0
MAST1	22983	broad.mit.edu	37	19	12975694	12975694	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr19:12975694G>A	uc002mvm.3	+	12	1566	c.1438G>A	c.(1438-1440)Gag>Aag	p.E480K		NM_014975	NP_055790	Q9Y2H9	MAST1_HUMAN	Homo sapiens microtubule associated serine/threonine kinase 1 (MAST1), mRNA.	480	Protein kinase.				cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						GTACTTTGCTGAGACGGTGCT	0.562000														34			12		0	0	0.001368	0	0
NMD3	51068	broad.mit.edu	37	3	160952972	160952972	+	Silent	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr3:160952972G>A	uc003feb.1	+	6	668	c.549G>A	c.(547-549)caG>caA	p.Q183Q	NMD3_uc003fec.3_Silent_p.Q183Q|NMD3_uc003fed.1_Silent_p.Q183Q|NMD3_uc010hwh.3_Silent_p.Q3Q	NM_015938	NP_057022	Q96D46	NMD3_HUMAN	Homo sapiens NMD3 homolog (S. cerevisiae) (NMD3), mRNA.	183					protein transport	cytoplasm|nucleolus|nucleoplasm				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(10)|ovary(1)|skin(1)|urinary_tract(2)	25			Lung(72;0.00111)|LUSC - Lung squamous cell carcinoma(72;0.00156)			GAATGCATCAGAATACACTTC	0.269000														34			30		0	0	0.002445	0	0
PAPPA	5069	broad.mit.edu	37	9	119158869	119158869	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr9:119158869G>A	uc004bjn.3	+	21	5239	c.4858G>A	c.(4858-4860)Gac>Aac	p.D1620N	PAPPA_uc011lxq.2_Missense_Mutation_p.D995N	NM_002581	NP_002572	Q13219	PAPP1_HUMAN	Homo sapiens pregnancy-associated plasma protein A, pappalysin 1 (PAPPA), mRNA.	1620					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						CAGCCGGAAAGACCTCCGGGG	0.522000														31			17		0	0	0.006122	0	0
GRM7	2917	broad.mit.edu	37	3	7348240	7348240	+	Missense_Mutation	SNP	G	A	A	rs140116291		TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr3:7348240G>A	uc003bqm.2	+	3	1208	c.934G>A	c.(934-936)Gga>Aga	p.G312R	GRM7_uc011ata.1_Non-coding_Transcript|GRM7_uc011atb.1_Non-coding_Transcript|GRM7_uc010hcf.2_Non-coding_Transcript|GRM7_uc011atc.1_Non-coding_Transcript|GRM7_uc010hcg.2_Missense_Mutation_p.G312R|GRM7_uc003bql.2_Missense_Mutation_p.G312R|GRM7_uc003bqn.1_5'UTR	NM_000844	NP_000835	Q14831	GRM7_HUMAN	Homo sapiens glutamate receptor, metabotropic 7 (GRM7), transcript variant 1, mRNA.	312					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	PDZ domain binding|adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	TCTTTGGGTGGGATCAGACAG	0.483000														54			35		0	0	0.003755	0	0
SVEP1	79987	broad.mit.edu	37	9	113170678	113170678	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr9:113170678C>T	uc010mtz.3	-	37	7539	c.7202G>A	c.(7201-7203)gGa>gAa	p.G2401E	SVEP1_uc010mty.3_Missense_Mutation_p.G327E	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA.	2401	Sushi 17.				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						GACAGTACTTCCAAAATGAAG	0.458000														12			13		0	0	0.002450	0	0
SPHKAP	80309	broad.mit.edu	37	2	228883992	228883992	+	Silent	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr2:228883992C>T	uc002vpq.2	-	6	1625	c.1578G>A	c.(1576-1578)tcG>tcA	p.S526S	SPHKAP_uc002vpp.2_Silent_p.S526S|SPHKAP_uc010zlx.1_Silent_p.S526S	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	526						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)		GGGGAAAGTTCGAGACCACTT	0.502000														21			12		0	0	0.000978	0	0
AP3B1	8546	broad.mit.edu	37	5	77412018	77412018	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr5:77412018T>C	uc003kfj.3	-	17	2134	c.2009A>G	c.(2008-2010)aAt>aGt	p.N670S		NM_003664	NP_003655	O00203	AP3B1_HUMAN	Homo sapiens adaptor-related protein complex 3, beta 1 subunit (AP3B1), mRNA.	670					endocytosis|melanosome organization	Golgi apparatus|clathrin coated vesicle membrane|membrane coat	protein phosphatase binding|protein transporter activity			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1)	39		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)		CTTAGCAGAATTCTCTTGCTT	0.348000									Hermansky-Pudlak syndrome					40			20		0	0	0.001523	0	0
TECTA	7007	broad.mit.edu	37	11	121037453	121037453	+	Silent	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr11:121037453C>T	uc010rzo.2	+	16	5550	c.5550C>T	c.(5548-5550)atC>atT	p.I1850I		NM_005422	NP_005413	O75443	TECTA_HUMAN	Homo sapiens tectorin alpha (TECTA), mRNA.	1850	ZP.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		CCTTTCAGATCAACAACACCA	0.507000														24			22		0	0	0.001882	0	0
KIF4B	285643	broad.mit.edu	37	5	154395342	154395342	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr5:154395342G>A	uc010jih.1	+	0	2083	c.1923G>A	c.(1921-1923)tgG>tgA	p.W641*		NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	Homo sapiens kinesin family member 4B (KIF4B), mRNA.	641				W -> R (in Ref. 1; AF241316).	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)			AAGAGATATGGATGATGAAAA	0.393000														59			30		0	0	0.001786	0	0
THBS2	7058	broad.mit.edu	37	6	169637409	169637409	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr6:169637409G>A	uc003qwt.3	-	9	1581	c.1333C>T	c.(1333-1335)Cct>Tct	p.P445S		NM_003247	NP_003238	P35442	TSP2_HUMAN	Homo sapiens thrombospondin 2 (THBS2), mRNA.	445	TSP type-1 2.				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)		GAAGACCAAGGTGACCAGTGG	0.582000														25			6		0	0	0.001984	0	0
GRIN2A	2903	broad.mit.edu	37	16	10032214	10032214	+	Silent	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr16:10032214C>T	uc010uym.2	-	3	919	c.609G>A	c.(607-609)gtG>gtA	p.V203V	GRIN2A_uc002czo.4_Silent_p.V203V|GRIN2A_uc010uyn.2_Silent_p.V46V|GRIN2A_uc002czr.4_Silent_p.V203V	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	203					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)	CCAGTGTGATCACATTCTGCA	0.498000														75			23		0	0	0.007291	0	0
NF1	4763	broad.mit.edu	37	17	29701167	29701167	+	Silent	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr17:29701167C>T	uc002hgg.3	+	57	8897	c.8514C>T	c.(8512-8514)atC>atT	p.I2838I	NF1_uc002hgh.3_Silent_p.I2817I|NF1_uc010cso.3_Silent_p.I1044I|NF1_uc010wbu.1_Intron|NF1_uc021tum.1_5'Flank	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	2838					MAPKKK cascade|Ras protein signal transduction|actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|metanephros development|myelination in peripheral nervous system|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	Ras GTPase activator activity|protein binding	p.0?(8)|p.I2838I(3)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TTAAGAAGATCGTGTGAAGCT	0.478000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				19			10		0	0	0.000673	0	0
LAMP5	24141	broad.mit.edu	37	20	9495524	9495524	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr20:9495524C>T	uc002wni.2	+	0	520	c.25C>T	c.(25-27)Ccc>Tcc	p.P9S	LAMP5_uc010zrc.2_Missense_Mutation_p.P9S	NM_012261	NP_036393	Q9UJQ1	CT103_HUMAN	Homo sapiens lysosomal-associated membrane protein family, member 5 (LAMP5), transcript variant 1, mRNA.	9						integral to membrane											AAGAGGGGTCCCCAGCATCGA	0.597000														24			6		0	0	0.001168	0	0
PTPRN2	5799	broad.mit.edu	37	7	157926624	157926624	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr7:157926624G>A	uc003wno.3	-	8	1422	c.1301C>T	c.(1300-1302)tCc>tTc	p.S434F	PTPRN2_uc003wnp.3_Missense_Mutation_p.S417F|PTPRN2_uc003wnq.3_Missense_Mutation_p.S434F|PTPRN2_uc003wnr.3_Missense_Mutation_p.S396F|PTPRN2_uc011kwa.2_Missense_Mutation_p.S457F	NM_002847	NP_002838	Q92932	PTPR2_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, N polypeptide 2 (PTPRN2), transcript variant 1, mRNA.	434						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)		TGAAGACAGGGAAGACTCAGG	0.617000														58			30		0	0	0.002836	0	0
DGKK	139189	broad.mit.edu	37	X	50163489	50163489	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chrX:50163489C>T	uc010njr.2	-	3	898	c.854G>A	c.(853-855)cGa>cAa	p.R285Q		NM_001013742	NP_001013764	Q5KSL6	DGKK_HUMAN	Homo sapiens diacylglycerol kinase, kappa (DGKK), mRNA.	285	PH.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					AGTGATTTTTCGTTGTGGTGT	0.383000														17			39		0	0	0.002522	0	0
DONSON	29980	broad.mit.edu	37	21	34958469	34958469	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr21:34958469A>C	uc002ysk.3	-	2	741	c.421T>G	c.(421-423)Tcc>Gcc	p.S141A	DONSON_uc002ysn.1_Missense_Mutation_p.S24A|DONSON_uc002ysi.1_5'UTR|DONSON_uc002ysj.3_5'UTR|DONSON_uc002ysm.3_Missense_Mutation_p.S141A	NM_017613	NP_060083	Q9NYP3	DONS_HUMAN	Homo sapiens downstream neighbor of SON (DONSON), mRNA.	141					multicellular organismal development	nucleus				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|ovary(1)	11						TCAGGCTCGGAGAATGATACA	0.388000											OREG0003565	type=REGULATORY REGION|Gene=DONSON|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay		15			10		0	0	0.000673	0	0
PLEC	5339	broad.mit.edu	37	8	144992922	144992922	+	Silent	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr8:144992922C>T	uc003zaf.1	-	31	11648	c.11478G>A	c.(11476-11478)acG>acA	p.T3826T	PLEC_uc003zab.1_Silent_p.T3689T|PLEC_uc003zac.1_Silent_p.T3693T|PLEC_uc003zad.2_Silent_p.T3689T|PLEC_uc003zae.1_Silent_p.T3657T|PLEC_uc003zag.1_Silent_p.T3667T|PLEC_uc003zah.2_Silent_p.T3675T|PLEC_uc003zaj.2_Silent_p.T3716T	NM_201380	NP_958782	Q15149	PLEC_HUMAN	Homo sapiens plectin (PLEC), transcript variant 6, mRNA.	3826	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CCACGGAGCCCGTGCCATAGA	0.647000														18			8		0	0	0.003080	0	0
TDRD5	163589	broad.mit.edu	37	1	179631298	179631298	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr1:179631298G>A	uc010pnp.2	+	14	2900	c.2382G>A	c.(2380-2382)tgG>tgA	p.W794*	TDRD5_uc021pfm.1_Nonsense_Mutation_p.W740*|TDRD5_uc001gnf.2_Nonsense_Mutation_p.W740*|TDRD5_uc021pfn.1_Nonsense_Mutation_p.W794*|TDRD5_uc001gnh.2_Nonsense_Mutation_p.W295*	NM_001199085	NP_001186014	Q8NAT2	TDRD5_HUMAN	Homo sapiens tudor domain containing 5 (TDRD5), transcript variant 1, mRNA.	792					DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						ATGATATTTGGGATGAGAACT	0.423000														35			15		0	0	0.001216	0	0
PRB3	5544	broad.mit.edu	37	12	11421581	11421581	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr12:11421581G>A	uc001qzs.3	-	1	124	c.86C>T	c.(85-87)cCc>cTc	p.P29L	PRB4_uc001qzf.1_Intron	NM_006249	NP_006240	Q04118	PRB3_HUMAN	Homo sapiens proline-rich protein BstNI subfamily 3 (PRB3), mRNA.	29						extracellular region	Gram-negative bacterial cell surface binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			TATTACGGAGGGAGATTCTTC	0.418000														89			34		0	0	0.007835	0	0
NBPF10	100132406	broad.mit.edu	37	1	144816614	144816614	+	Silent	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr1:144816614C>T	uc009wig.1	+	11	1709	c.1515C>T	c.(1513-1515)gtC>gtT	p.V505V	NBPF10_uc010oxo.1_Silent_p.V507V|NBPF10_uc010oxn.1_Intron|NBPF10_uc021oth.1_Intron|NBPF10_uc021otj.1_Intron|NBPF10_uc021oto.1_Intron|NBPF10_uc021otr.1_Intron|NBPF10_uc021ots.1_Intron|NBPF10_uc021otv.1_Intron|NBPF10_uc001ekk.1_Intron|NBPF10_uc010oyd.1_Intron|NBPF10_uc010oye.2_Intron|NBPF10_uc001eli.3_Non-coding_Transcript|NBPF10_uc009wii.1_Silent_p.V236V|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron|NBPF10_uc021ouf.1_Silent_p.V167V	NM_001037675	NP_001032764	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 9 (NBPF9), mRNA.	507										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)		AAGACAAAGTCGACTCAACTC	0.448000														158			70		0	0	0.003610	0	0
RTDR1	27156	broad.mit.edu	37	22	23403994	23403994	+	Silent	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr22:23403994G>A	uc002zwt.3	-	5	941	c.783C>T	c.(781-783)atC>atT	p.I261I		NM_014433	NP_055248	Q9UHP6	RTDR1_HUMAN	Homo sapiens rhabdoid tumor deletion region gene 1 (RTDR1), mRNA.	261							binding			breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	18	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.175)		CACCTTCAGTGATCACTGTGG	0.597000														25			13		0	0	0.004007	0	0
PLCE1	51196	broad.mit.edu	37	10	95791248	95791248	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr10:95791248T>C	uc001kjk.3	+	1	1079	c.445T>C	c.(445-447)Ttc>Ctc	p.F149L	PLCE1_uc010qnx.2_Missense_Mutation_p.F149L	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN	Homo sapiens phospholipase C, epsilon 1 (PLCE1), transcript variant 1, mRNA.	149					Ras protein signal transduction|activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of cell growth|regulation of smooth muscle contraction	Golgi membrane|cytosol|membrane fraction|plasma membrane	Ras GTPase binding|calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				AAGAAAGGTGTTCCCTGGAAT	0.443000														48			20		0	0	0.001523	0	0
DEFB112	245915	broad.mit.edu	37	6	50011425	50011425	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr6:50011425C>T	uc011dws.2	-	1	205	c.205G>A	c.(205-207)Gaa>Aaa	p.E69K		NM_001037498	NP_001032587	Q30KQ8	DB112_HUMAN	Homo sapiens defensin, beta 112 (DEFB112), mRNA.	69					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)					ATCCTAAATTCACTATCATCA	0.438000														43			17		0	0	0.007413	0	0
FAM123B	139285	broad.mit.edu	37	X	63410946	63410946	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chrX:63410946G>A	uc022byb.1	-	0	2221	c.2221C>T	c.(2221-2223)Ccc>Tcc	p.P741S	FAM123B_uc004dvo.3_Missense_Mutation_p.P741S	NM_152424	NP_689637	Q5JTC6	F123B_HUMAN	Homo sapiens family with sequence similarity 123B (FAM123B), mRNA.	741					Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane		p.0?(67)		NS(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(132)|large_intestine(35)|liver(1)|lung(33)|ovary(5)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	225						GCCCTCCTGGGAGATCCTCCA	0.507000														3			15		0	0	0.001216	0	0
abParts	0	broad.mit.edu	37	14	106518559	106518559	+	RNA	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr14:106518559C>T	uc021ser.1	-	2195		c.39394G>A								Parts of antibodies, mostly variable regions.																		CCACCCACTCCAGCCCCTTCC	0.552000														55			32		0	0	0.003755	0	0
CPNE6	9362	broad.mit.edu	37	14	24545385	24545385	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr14:24545385G>A	uc010tnv.2	+	11	1263	c.1117G>A	c.(1117-1119)Ggg>Agg	p.G373R	CPNE6_uc001wlm.3_Missense_Mutation_p.G143R|CPNE6_uc001wll.3_Missense_Mutation_p.G318R|CPNE6_uc001wln.3_5'UTR	NM_006032	NP_006023	O95741	CPNE6_HUMAN	Homo sapiens copine VI (neuronal) (CPNE6), mRNA.	318	VWFA.				lipid metabolic process|nervous system development|synaptic transmission|vesicle-mediated transport		calcium ion binding|transporter activity			endometrium(4)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	22				GBM - Glioblastoma multiforme(265;0.0184)		CGCCTCCAATGGGGACCCGAG	0.632000														16			11		0	0	0.001368	0	0
C3orf30	152405	broad.mit.edu	37	3	118865837	118865837	+	Silent	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr3:118865837G>A	uc003ecb.1	+	0	841	c.801G>A	c.(799-801)agG>agA	p.R267R	IGSF11_uc003eby.3_5'Flank|IGSF11_uc003ebz.3_5'Flank|IGSF11_uc010hqs.3_5'Flank|C3orf30_uc011biw.1_Silent_p.R267R	NM_152539	NP_689752	Q96M34	CC030_HUMAN	Homo sapiens chromosome 3 open reading frame 30 (C3orf30), mRNA.	267								p.R267W(1)		NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(20)|ovary(2)|prostate(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(114;0.222)		GGAAAGTTAGGAGAAGAAGTT	0.498000														69			15		0	0	0.004990	0	0
BANF1	8815	broad.mit.edu	37	11	65770751	65770751	+	Silent	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr11:65770751C>T	uc001ogo.3	+	1	538	c.30C>T	c.(28-30)ttC>ttT	p.F10F	EIF1AD_uc021qlr.1_5'Flank|EIF1AD_uc001ogm.2_5'Flank|EIF1AD_uc021qls.1_5'Flank|EIF1AD_uc021qlt.1_5'Flank|EIF1AD_uc021qlu.1_5'Flank|EIF1AD_uc021qlv.1_5'Flank|EIF1AD_uc001ogn.2_5'Flank|BANF1_uc001ogp.3_Silent_p.F10F	NM_003860	NP_003851	O75531	BAF_HUMAN	Homo sapiens barrier to autointegration factor 1 (BANF1), transcript variant 1, mRNA.	10					initiation of viral infection|interspecies interaction between organisms|provirus integration|response to virus	chromosome|cytosol|nucleoplasm	DNA binding			large_intestine(2)|prostate(1)	3						ACCGAGACTTCGTGGCAGAGC	0.532000														19			6		0	0	0.003080	0	0
RHBG	57127	broad.mit.edu	37	1	156348077	156348077	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr1:156348077C>T	uc010pho.2	+	3	598	c.560C>T	c.(559-561)aCc>aTc	p.T187I	RHBG_uc010phm.1_Intron|RHBG_uc010phn.1_Non-coding_Transcript|RHBG_uc001fos.3_Missense_Mutation_p.T118I|RHBG_uc009wrz.3_Missense_Mutation_p.T155I|RHBG_uc001for.3_Missense_Mutation_p.T157I	NM_020407	NP_065140	Q9H310	RHBG_HUMAN	Homo sapiens Rh family, B glycoprotein (gene/pseudogene) (RHBG), transcript variant 1, mRNA.	187					transepithelial ammonium transport	anchored to plasma membrane|basolateral plasma membrane|cytoplasmic vesicle membrane|integral to plasma membrane|spectrin-associated cytoskeleton	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	22	Hepatocellular(266;0.158)					ACTATCCACACCTTTGGTGCC	0.647000														65			32		0	0	0.004289	0	0
VIP	7432	broad.mit.edu	37	6	153073340	153073340	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr6:153073340C>T	uc003qpe.3	+	1	200	c.28C>T	c.(28-30)Ctt>Ttt	p.L10F	VIP_uc003qpf.3_Missense_Mutation_p.L10F|VIP_uc010kjd.3_Missense_Mutation_p.L10F	NM_003381	NP_003372	P01282	VIP_HUMAN	Homo sapiens vasoactive intestinal peptide (VIP), transcript variant 1, mRNA.	10					G-protein coupled receptor protein signaling pathway|body fluid secretion|positive regulation of cell proliferation	extracellular region	neuropeptide hormone activity			haematopoietic_and_lymphoid_tissue(1)|lung(4)|skin(1)	6		Ovarian(120;0.0654)		OV - Ovarian serous cystadenocarcinoma(155;4.5e-11)|BRCA - Breast invasive adenocarcinoma(81;0.144)		GGCCCAGCTCCTTGTGCTCCT	0.478000														31			14		0	0	0.002450	0	0
HHIP	64399	broad.mit.edu	37	4	145636561	145636561	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr4:145636561G>A	uc003ijs.2	+	9	2337	c.1657G>A	c.(1657-1659)Gga>Aga	p.G553R		NM_022475	NP_071920	Q96QV1	HHIP_HUMAN	Homo sapiens hedgehog interacting protein (HHIP), mRNA.	553						cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		TCACATCTTGGGATTTGGAGA	0.433000														42			20		0	0	0.001882	0	0
FBXO46	23403	broad.mit.edu	37	19	46215197	46215198	+	Nonsense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr19:46215197_46215198CC>TT	uc002pcz.3	-	1	1679_1680	c.1556_1557GG>AA	c.(1555-1557)tgg>tAA	p.W519*	FBXO46_uc002pcy.3_Nonsense_Mutation_p.W519*|FBXO46_uc021uvz.1_Nonsense_Mutation_p.W519*	NM_001080469	NP_001073938	Q6PJ61	FBX46_HUMAN	Homo sapiens F-box protein 46 (FBXO46), mRNA.	519	F-box.						protein binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(2)|skin(1)	15		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00568)|GBM - Glioblastoma multiforme(486;0.0844)|Epithelial(262;0.201)		GGTCTCGGCTCCAGCGCGAGTC	0.663000														7			6		0	0	0.004672	0	0
MYCBP2	23077	broad.mit.edu	37	13	77672117	77672117	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr13:77672117G>A	uc021rks.1	-	55	9439	c.9172C>T	c.(9172-9174)Cat>Tat	p.H3058Y	MYCBP2_uc010aev.3_Missense_Mutation_p.H2424Y|MYCBP2_uc001vkg.1_Missense_Mutation_p.H543Y|MYCBP2_uc010aew.3_Missense_Mutation_p.H406Y	NM_015057	NP_055872	O75592	MYCB2_HUMAN	Homo sapiens MYC binding protein 2 (MYCBP2), mRNA.	3020					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		AGTTCAGGATGAAACTTTAGG	0.398000														30			24		0	0	0.003954	0	0
BPIFB4	149954	broad.mit.edu	37	20	31685474	31685474	+	Silent	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr20:31685474C>T	uc010zue.2	+	10	1465	c.1450C>T	c.(1450-1452)Ctg>Ttg	p.L484L		NM_182519	NP_872325	P59827	LPLC4_HUMAN	Homo sapiens BPI fold containing family B, member 4 (BPIFB4), mRNA.	484						cytoplasm|extracellular region	lipid binding										GATCCAGGTGCTGAACCCACC	0.587000														55			35		0	0	0.005524	0	0
FAAH2	158584	broad.mit.edu	37	X	57405110	57405110	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chrX:57405110C>T	uc004dvc.3	+	5	918	c.769C>T	c.(769-771)Ccc>Tcc	p.P257S		NM_174912	NP_777572	Q6GMR7	FAAH2_HUMAN	Homo sapiens fatty acid amide hydrolase 2 (FAAH2), mRNA.	257						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						AGGTCAGTTTCCCTTGGCTGT	0.507000										HNSCC(52;0.14)				12			36		0	0	0.005524	0	0
GPLD1	2822	broad.mit.edu	37	6	24448199	24448199	+	Silent	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr6:24448199G>A	uc003ned.1	-	16	1695	c.1584C>T	c.(1582-1584)ccC>ccT	p.P528P	GPLD1_uc010jpr.1_Silent_p.P365P|GPLD1_uc010jps.1_Silent_p.P528P	NM_001503	NP_001494	P80108	PHLD_HUMAN	Homo sapiens glycosylphosphatidylinositol specific phospholipase D1 (GPLD1), transcript variant 1, mRNA.	528						extracellular region	glycosylphosphatidylinositol phospholipase D activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	32						TGACCAGATCGGGTTCACTGT	0.522000														26			8		0	0	0.006214	0	0
GRIN2B	2904	broad.mit.edu	37	12	13720055	13720055	+	Silent	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr12:13720055G>A	uc001rbt.2	-	11	2681	c.2502C>T	c.(2500-2502)atC>atT	p.I834I		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2B (GRIN2B), mRNA.	834					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|glycine binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	AGATGAAGGTGATGAGGCTGA	0.512000														48			22		0	0	0.003330	0	0
HNRNPH3	3189	broad.mit.edu	37	10	70097677	70097677	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr10:70097677G>A	uc001jnw.4	+	2	404	c.175G>A	c.(175-177)Gag>Aag	p.E59K	HNRNPH3_uc001jnx.4_Missense_Mutation_p.E59K|HNRNPH3_uc009xpu.3_5'UTR|HNRNPH3_uc010qiv.2_Intron|HNRNPH3_uc001jny.4_Missense_Mutation_p.E10K	NM_012207	NP_036339	P31942	HNRH3_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein H3 (2H9) (HNRNPH3), transcript variant 2H9, mRNA.	59	RRM 1.				nuclear mRNA splicing, via spliceosome	heterogeneous nuclear ribonucleoprotein complex	RNA binding|nucleotide binding|protein binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)	11						AAGCACAGGGGAGGCCTTCGT	0.498000														64			31		0	0	0.002836	0	0
MIR1253	100302208	broad.mit.edu	37	17	2651399	2651399	+	RNA	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr17:2651399G>A	uc021tnr.1	-	0		c.78C>T								Homo sapiens microRNA 1253 (MIR1253), microRNA.																		ATCCCAAAGGGGAGAAGATCA	0.483000														26			4		0	0	0.001168	0	0
ZNF653	115950	broad.mit.edu	37	19	11596514	11596514	+	Silent	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr19:11596514G>A	uc002mrz.2	-	6	1664	c.1527C>T	c.(1525-1527)ttC>ttT	p.F509F		NM_138783	NP_620138	Q96CK0	ZN653_HUMAN	Homo sapiens zinc finger protein 653 (ZNF653), mRNA.	509					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	17						TGGATAAATAGAACTTCTTGC	0.577000														74			44		0	0	0.003610	0	0
RIMBP2	23504	broad.mit.edu	37	12	130919293	130919293	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr12:130919293C>T	uc001uil.2	-	10	2404	c.2188G>A	c.(2188-2190)Gaa>Aaa	p.E730K	RIMBP2_uc001uim.3_Missense_Mutation_p.E638K	NM_015347	NP_056162	O15034	RIMB2_HUMAN	Homo sapiens RIMS binding protein 2 (RIMBP2), mRNA.	730						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)		TTGCCAAGTTCAGAGCCTTTC	0.662000														71			43		0	0	0.003610	0	0
MC3R	4159	broad.mit.edu	37	20	54824426	54824426	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr20:54824426G>A	uc002xxb.2	+	0	639	c.527G>A	c.(526-528)gGc>gAc	p.G176D		NM_019888	NP_063941	P41968	MC3R_HUMAN	Homo sapiens melanocortin 3 receptor (MC3R), mRNA.	213					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26			Colorectal(105;0.202)			GGCGTCTGTGGCGTGGTGTTC	0.562000														53			26		0	0	0.005443	0	0
ZNF556	80032	broad.mit.edu	37	19	2876127	2876127	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr19:2876127C>T	uc002lwp.1	+	2	254	c.167C>T	c.(166-168)tCt>tTt	p.S56F	ZNF556_uc002lwq.3_Missense_Mutation_p.S56F	NM_024967	NP_079243	Q9HAH1	ZN556_HUMAN	Homo sapiens zinc finger protein 556 (ZNF556), mRNA.	56	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7)	31				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGTCTATTTCTCAGCAGGAT	0.368000														112			67		0	0	0.003610	0	0
MUC16	94025	broad.mit.edu	37	19	9049196	9049196	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr19:9049196G>T	uc002mkp.3	-	4	32639	c.32435C>A	c.(32434-32436)aCa>aAa	p.T10812K		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	10814	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						AGGGGAGTTTGTCAGAGCTCG	0.488000														103			41		8.01111e-26	1.57765e-25	0.002522	1	0
KPRP	448834	broad.mit.edu	37	1	152733215	152733215	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr1:152733215C>T	uc001fal.1	+	1	1209	c.1151C>T	c.(1150-1152)cCa>cTa	p.P384L	KPRP_uc021ozf.1_Missense_Mutation_p.P384L	NM_001025231	NP_001020402	Q5T749	KPRP_HUMAN	Homo sapiens keratinocyte proline-rich protein (KPRP), mRNA.	384	Pro-rich.					cytoplasm				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGCTTCTGTCCACCACGGCGT	0.637000														31			9		0	0	0.006214	0	0
ACOXL	55289	broad.mit.edu	37	2	111542337	111542337	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr2:111542337G>A	uc010yxk.1	+	2	328	c.104G>A	c.(103-105)cGa>cAa	p.R35Q		NM_001142807	NP_001136279	Q9NUZ1	ACOXL_HUMAN	Homo sapiens acyl-CoA oxidase-like (ACOXL), mRNA.	35					fatty acid beta-oxidation	peroxisome	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity			kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(1)	21						TTTGTCAGCCGAAGCCTTGTC	0.453000														32			20		0	0	0.003954	0	0
KLHL38	340359	broad.mit.edu	37	8	124664923	124664923	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr8:124664923G>A	uc003yqs.1	-	0	268	c.244C>T	c.(244-246)Ccc>Tcc	p.P82S		NM_001081675	NP_001075144	Q2WGJ6	KLH38_HUMAN	Homo sapiens kelch-like 38 (Drosophila) (KLHL38), mRNA.	82	BTB.									breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						AGGGTTGGGGGGTCAATGCCT	0.587000														31			10		0	0	0.000673	0	0
DNAJC10	54431	broad.mit.edu	37	2	183582833	183582833	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr2:183582833A>T	uc002uow.1	+	2	435	c.20A>T	c.(19-21)aAa>aTa	p.K7I	DNAJC10_uc002uox.1_Non-coding_Transcript|DNAJC10_uc002uoy.1_Non-coding_Transcript|DNAJC10_uc002uoz.1_Missense_Mutation_p.K7I|DNAJC10_uc010fro.1_Non-coding_Transcript	NM_018981	NP_061854	Q8IXB1	DJC10_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 10 (DNAJC10), mRNA.	7					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)			TGGTTAAATAAAGATGACTAT	0.343000														30			8		0	0	0.000978	0	0
DSCAM	1826	broad.mit.edu	37	21	41559882	41559882	+	Silent	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr21:41559882G>A	uc002yyq.1	-	12	3038	c.2586C>T	c.(2584-2586)ttC>ttT	p.F862F	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.	862	Ig-like C2-type 9.				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)				GGCAGGAAAAGAAACCAGAAT	0.403000														32			14		0	0	0.004990	0	0
COL7A1	1294	broad.mit.edu	37	3	48614433	48614433	+	Missense_Mutation	SNP	C	T	T	rs146234310		TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr3:48614433C>T	uc003ctz.2	-	64	5561	c.5560G>A	c.(5560-5562)Ggg>Agg	p.G1854R		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	Homo sapiens collagen, type VII, alpha 1 (COL7A1), mRNA.	1854	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)		ACCTTCCTCCCGTCTTCTCCA	0.547000														54			25		0	0	0.007291	0	0
HPS1	3257	broad.mit.edu	37	10	100185627	100185627	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr10:100185627G>A	uc021pwv.1	-	11	1349	c.1103C>T	c.(1102-1104)aCc>aTc	p.T368I	HPS1_uc010qpg.2_5'UTR|HPS1_uc009xwb.3_Non-coding_Transcript	NM_000195	NP_000186	Q92902	HPS1_HUMAN	Homo sapiens Hermansky-Pudlak syndrome 1 (HPS1), transcript variant 1, mRNA.	368					lysosome organization|response to stimulus|visual perception	cytoplasmic membrane-bounded vesicle|integral to plasma membrane|lysosome|membrane fraction|soluble fraction	protein dimerization activity	p.T368I(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.234)		Epithelial(162;3.87e-12)|all cancers(201;5.63e-10)		GCAGTACATGGTGTGGGGCAC	0.612000									Hermansky-Pudlak syndrome		OREG0020430	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		67			26		0	0	0.004656	0	0
CSMD2	114784	broad.mit.edu	37	1	34285384	34285384	+	Silent	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr1:34285384G>A	uc001bxm.1	-	8	1431	c.1254C>T	c.(1252-1254)tcC>tcT	p.S418S	CSMD2_uc001bxn.1_Silent_p.S378S	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	378	CUB 3.					integral to membrane|plasma membrane	protein binding	p.T417S(1)		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)				TGATCCGCTTGGACCCTTGCA	0.607000														24			14		0	0	0.003163	0	0
OR52R1	119695	broad.mit.edu	37	11	4825355	4825355	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr11:4825355C>G	uc021qcs.1	-	0	256	c.256G>C	c.(256-258)Gcc>Ccc	p.A86P		NM_001005177	NP_001005177	Q8NGF1	O52R1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily R, member 1 (OR52R1), mRNA.	86					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3)	29		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		CAGAATATGGCCAACATCTTA	0.512000														26			18		0	0	0.004990	0	0
C1orf168	199920	broad.mit.edu	37	1	57257927	57257927	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr1:57257927C>T	uc001cym.4	-	1	965	c.559G>A	c.(559-561)Gaa>Aaa	p.E187K	C1orf168_uc009vzu.1_Non-coding_Transcript|C1orf168_uc009vzv.1_Missense_Mutation_p.E187K	NM_001004303	NP_001004303	Q5VWT5	CA168_HUMAN	Homo sapiens chromosome 1 open reading frame 168 (C1orf168), mRNA.	187										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						CCTTTTGTTTCCAGCTTTTTC	0.483000														66			31		0	0	0.002096	0	0
CLASP2	23122	broad.mit.edu	37	3	33673818	33673818	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr3:33673818A>G	uc021wvc.1	-	8	1122	c.911T>C	c.(910-912)tTt>tCt	p.F304S	CLASP2_uc021wvb.1_Missense_Mutation_p.F70S|CLASP2_uc021wvd.1_Missense_Mutation_p.F303S|CLASP2_uc003cfv.3_Missense_Mutation_p.F76S|CLASP2_uc011axu.1_Missense_Mutation_p.F80S|CLASP2_uc003cfw.2_Missense_Mutation_p.F76S	NM_015097	NP_055912	B2RTR1	B2RTR1_HUMAN	Homo sapiens cytoplasmic linker associated protein 2 (CLASP2), transcript variant 1, mRNA.	304										breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						AGCTTTTATAAAATCATCTTC	0.378000														9			6		0	0	0.003080	0	0
TGFBR2	7048	broad.mit.edu	37	3	30729980	30729980	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr3:30729980C>T	uc003ceo.3	+	5	1883	c.1501C>T	c.(1501-1503)Ccc>Tcc	p.P501S	TGFBR2_uc003cen.3_Missense_Mutation_p.P526S	NM_003242	NP_003233	P37173	TGFR2_HUMAN	Homo sapiens transforming growth factor, beta receptor II (70/80kDa) (TGFBR2), transcript variant 2, mRNA.	501	Protein kinase.				activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of NK T cell differentiation|positive regulation of T cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of reactive oxygen species metabolic process|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|SMAD binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						ACCAGAAATTCCCAGCTTCTG	0.478000														30			12		0	0	0.003163	0	0
GAB4	128954	broad.mit.edu	37	22	17443709	17443709	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr22:17443709C>T	uc002zlw.3	-	9	1747	c.1639G>A	c.(1639-1641)Gag>Aag	p.E547K		NM_001037814	NP_001032903	Q2WGN9	GAB4_HUMAN	Homo sapiens GRB2-associated binding protein family, member 4 (GAB4), mRNA.	547										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44		all_epithelial(15;0.112)|Lung NSC(13;0.248)				TGGGTCTTCTCCAGATCCACC	0.602000														24			11		0	0	0.000673	0	0
ABCC8	6833	broad.mit.edu	37	11	17419306	17419306	+	Silent	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr11:17419306C>T	uc001mnc.3	-	30	3918	c.3792G>A	c.(3790-3792)gtG>gtA	p.V1264V		NM_000352	NP_000343	Q09428	ABCC8_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 8 (ABCC8), mRNA.	1264	ABC transmembrane type-1 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)	AGATGGAGGTCACCGCTGCGA	0.637000														115			58		0	0	0.003610	0	0
OR4A47	403253	broad.mit.edu	37	11	48510946	48510946	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr11:48510946G>A	uc010rhx.2	+	0	602	c.602G>A	c.(601-603)gGa>gAa	p.G201E		NM_001005512	NP_001005512	Q6IF82	O4A47_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 47 (OR4A47), mRNA.	201					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G201E(2)		NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						GTGGCCAATGGAGGACTGGCT	0.448000														59			22		0	0	0.002780	0	0
ZNF433	163059	broad.mit.edu	37	19	12126357	12126357	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr19:12126357C>T	uc002msy.1	-	3	1496	c.1325G>A	c.(1324-1326)aGg>aAg	p.R442K	AX747405_uc002msx.1_Intron|ZNF433_uc002msz.1_Missense_Mutation_p.R407K	NM_001080411	NP_001073880	Q8N7K0	ZN433_HUMAN	Homo sapiens zinc finger protein 433 (ZNF433), mRNA.	442					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(1)|prostate(1)|skin(1)	14						CGTGTGAGTCCTACCATGTGT	0.418000														45			26		0	0	0.001786	0	0
XRCC6BP1	91419	broad.mit.edu	37	12	58335605	58335605	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr12:58335605T>C	uc001sqp.3	+	0	161	c.121T>C	c.(121-123)Ttc>Ctc	p.F41L		NM_033276	NP_150592	Q9Y6H3	ATP23_HUMAN	Homo sapiens XRCC6 binding protein 1 (XRCC6BP1), mRNA.	41					double-strand break repair via nonhomologous end joining	DNA-dependent protein kinase-DNA ligase 4 complex	DNA-dependent protein kinase activity|metal ion binding|metalloendopeptidase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)	11						CCAGCAAGGGTTCTTCTCCAG	0.637000														16			8		0	0	0.004482	0	0
CERKL	375298	broad.mit.edu	37	2	182403898	182403898	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr2:182403898C>T	uc002unx.3	-	12	1638	c.1537G>A	c.(1537-1539)Gat>Aat	p.D513N	CERKL_uc010frk.3_Non-coding_Transcript|CERKL_uc002uny.3_Missense_Mutation_p.D487N|CERKL_uc010zfm.2_Missense_Mutation_p.D469N|CERKL_uc002unz.3_Missense_Mutation_p.D235N|CERKL_uc002uoa.3_Missense_Mutation_p.D418N|CERKL_uc002uob.3_Missense_Mutation_p.D235N|CERKL_uc002uoc.3_Missense_Mutation_p.D374N|CERKL_uc021vth.1_Missense_Mutation_p.D282N|CERKL_uc021vti.1_Missense_Mutation_p.D235N|CERKL_uc021vtj.1_Missense_Mutation_p.D190N|CERKL_uc021vtk.1_Missense_Mutation_p.D235N|CERKL_uc021vtl.1_Missense_Mutation_p.D190N|CERKL_uc021vtm.1_Missense_Mutation_p.D282N|CERKL_uc002uod.2_Missense_Mutation_p.D282N|CERKL_uc002unw.3_Missense_Mutation_p.D83N	NM_001030311	NP_001025482	Q49MI3	CERKL_HUMAN	Homo sapiens ceramide kinase-like (CERKL), transcript variant 2, mRNA.	513					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis	Golgi apparatus|endoplasmic reticulum|nucleolus	diacylglycerol kinase activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(13)|ovary(3)|skin(3)	32			OV - Ovarian serous cystadenocarcinoma(117;0.088)			GCAGTTTCATCCTCCTCCTCC	0.368000														45			33		0	0	0.004289	0	0
SNHG3	8420	broad.mit.edu	37	1	28835344	28835344	+	Silent	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr1:28835344G>A	uc001bqd.3	+	3	286	c.270G>A	c.(268-270)gaG>gaA	p.E90E	RCC1_uc001bqb.2_5'UTR|RCC1_uc001bqa.2_5'UTR|RCC1_uc001bqc.2_5'UTR					Homo sapiens small nucleolar RNA host gene 3 (non-protein coding) (SNHG3), transcript variant 1, non-coding RNA.																		TCTTTTAGGAGAGAAGACGAT	0.348000														34			9		0	0	0.000673	0	0
C1orf168	199920	broad.mit.edu	37	1	57221585	57221585	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr1:57221585G>A	uc001cym.4	-	6	1520	c.1114C>T	c.(1114-1116)Ccc>Tcc	p.P372S	C1orf168_uc009vzu.1_Intron|C1orf168_uc001cyl.3_Non-coding_Transcript	NM_001004303	NP_001004303	Q5VWT5	CA168_HUMAN	Homo sapiens chromosome 1 open reading frame 168 (C1orf168), mRNA.	372										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						TCTGGATAGGGAAAATTCTTC	0.393000														31			11		0	0	0.001368	0	0
NID2	22795	broad.mit.edu	37	14	52508839	52508839	+	Silent	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr14:52508839G>A	uc001wzo.3	-	6	2043	c.1809C>T	c.(1807-1809)aaC>aaT	p.N603N	NID2_uc010tqs.2_Silent_p.N603N|NID2_uc010tqt.1_Silent_p.N603N|NID2_uc001wzp.3_Silent_p.N603N	NM_007361	NP_031387	Q14112	NID2_HUMAN	Homo sapiens nidogen 2 (osteonidogen) (NID2), mRNA.	603	Nidogen G2 beta-barrel.					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)					GGCTGAAGCCGTTCTCAGAGC	0.587000														69			37		0	0	0.006230	0	0
TRIP12	9320	broad.mit.edu	37	2	230675852	230675852	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr2:230675852C>T	uc002vpx.1	-	14	2164	c.2055_splice	c.e14+1	p.E685_splice	TRIP12_uc021vxw.1_Splice_Site_p.E643_splice|TRIP12_uc002vpy.1_Splice_Site_p.E340_splice|TRIP12_uc002vpw.1_Splice_Site_p.E637_splice|TRIP12_uc010zlz.1_Intron|TRIP12_uc010fxh.1_Splice_Site_p.E643_splice	NM_004238	NP_004229	Q14669	TRIPC_HUMAN	Homo sapiens thyroid hormone receptor interactor 12 (TRIP12), mRNA.	637					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		AAACACTTACCTCCTCATGCT	0.318000														27			10		0	0	0.000673	0	0
STON1-GTF2A1L	286749	broad.mit.edu	37	2	48897015	48897015	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr2:48897015G>A	uc002rwp.2	+	8	3359	c.3245G>A	c.(3244-3246)gGg>gAg	p.G1082E	STON1-GTF2A1L_uc021vhf.1_Missense_Mutation_p.G1082E|STON1-GTF2A1L_uc010yol.2_Missense_Mutation_p.G1035E|STON1-GTF2A1L_uc002rws.2_Missense_Mutation_p.G378E|STON1-GTF2A1L_uc010yom.2_Missense_Mutation_p.G344E	NM_172311	NP_758515	B7ZL16	B7ZL16_HUMAN	Homo sapiens STON1-GTF2A1L readthrough (STON1-GTF2A1L), transcript variant 1, mRNA.	1035					endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(22)|liver(2)|lung(49)|ovary(3)|pancreas(1)|prostate(4)|skin(4)	91		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			AATATTGACGGGGGAGATCTG	0.383000														29			16		0	0	0.003163	0	0
IL21R	50615	broad.mit.edu	37	16	27460428	27460428	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr16:27460428C>T	uc002dor.2	+	9	2055	c.1507C>T	c.(1507-1509)Ccc>Tcc	p.P503S	IL21R_uc002doq.2_Missense_Mutation_p.P481S|IL21R_uc002dos.2_Missense_Mutation_p.P481S|LOC283888_uc002dot.3_Non-coding_Transcript	NM_181079	NP_851565	Q9HBE5	IL21R_HUMAN	Homo sapiens interleukin 21 receptor (IL21R), transcript variant 3, mRNA.	481					natural killer cell activation	integral to membrane	interleukin-21 receptor activity			breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						GGCGGGCTCACCCCTGGCCGG	0.652000			T	BCL6	NHL									24			12		0	0	0.001368	0	0
TP63	8626	broad.mit.edu	37	3	189456456	189456456	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr3:189456456G>A	uc003fry.2	+	2	306	c.217G>A	c.(217-219)Gac>Aac	p.D73N	TP63_uc003frx.2_Missense_Mutation_p.D73N|TP63_uc003frz.2_Missense_Mutation_p.D73N|TP63_uc010hzc.1_Missense_Mutation_p.D73N	NM_003722	NP_003713	Q9H3D4	P63_HUMAN	Homo sapiens tumor protein p63 (TP63), transcript variant 1, mRNA.	73	Transcription activation.				DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|Notch signaling pathway|anti-apoptosis|cellular response to UV|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to X-ray|response to gamma radiation	Golgi apparatus|chromatin|cytosol|dendrite|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		TCAGCCCATTGACTTGAACTT	0.428000										HNSCC(45;0.13)				61			28		0	0	0.001786	0	0
SCN11A	11280	broad.mit.edu	37	3	38892129	38892129	+	Silent	SNP	T	C	C			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr3:38892129T>C	uc021wvy.1	-	24	4369	c.4170A>G	c.(4168-4170)caA>caG	p.Q1390Q	SCN11A_uc003cis.1_Silent_p.Q55Q	NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	1390					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)	TGGCTTTGGGTTGGTTGTATG	0.398000														61			21		0	0	0.002780	0	0
CMYA5	202333	broad.mit.edu	37	5	79029836	79029836	+	Missense_Mutation	SNP	G	A	A	rs62621913		TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr5:79029836G>A	uc003kgc.3	+	1	5320	c.5248G>A	c.(5248-5250)Gga>Aga	p.G1750R		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	Homo sapiens cardiomyopathy associated 5 (CMYA5), mRNA.	1750						perinuclear region of cytoplasm		p.G1750E(1)		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)		TTCTTTAAAAGGATTATCAGA	0.438000														41			12		0	0	0.000978	0	0
SAMD4B	55095	broad.mit.edu	37	19	39847698	39847698	+	Silent	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr19:39847698C>T	uc002olb.3	+	4	1200	c.165C>T	c.(163-165)atC>atT	p.I55I	SAMD4B_uc002ola.3_Silent_p.I55I	NM_018028	NP_060498	Q5PRF9	SMAG2_HUMAN	Homo sapiens sterile alpha motif domain containing 4B (SAMD4B), mRNA.	55							protein binding	p.I55N(1)		autonomic_ganglia(1)|breast(1)|endometrium(5)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(2)	15	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;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			GCAATGACATCCACCTGCTGG	0.592000														11			6		0	0	0.003080	0	0
TNXB	7148	broad.mit.edu	37	6	32052376	32052376	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr6:32052376C>T	uc003nzl.2	-	7	3461	c.3259G>A	c.(3259-3261)Ggc>Agc	p.G1087S		NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	1174	Fibronectin type-III 3.				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						TCAAACTCGCCCTCGGGGACC	0.657000														283			120		0	0	0.003610	0	0
ZNF394	84124	broad.mit.edu	37	7	99091874	99091875	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr7:99091874_99091875GG>AA	uc003uqs.3	-	2	1124_1125	c.963_964CC>TT	c.(961-966)ttccac>ttTTac	p.H322Y	ZNF394_uc003uqt.3_Missense_Mutation_p.H115Y	NM_032164	NP_115540	Q53GI3	ZN394_HUMAN	Homo sapiens zinc finger protein 394 (ZNF394), mRNA.	322					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(5)|stomach(1)|urinary_tract(1)	16	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					GTCACCATGTGGAAACTTTGCT	0.515000														34			32		0	0	0.004672	0	0
ODZ2	57451	broad.mit.edu	37	5	167625888	167625888	+	Silent	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr5:167625888C>T	uc010jjd.3	+	15	2904	c.2904C>T	c.(2902-2904)tcC>tcT	p.S968S	ODZ2_uc003lzr.4_Silent_p.S745S|ODZ2_uc003lzt.4_Silent_p.S341S|ODZ2_uc010jje.3_Silent_p.S239S	NM_001122679	NP_001116151			Homo sapiens odz, odd Oz/ten-m homolog 2 (Drosophila) (ODZ2), mRNA.											NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|lung(45)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(2)	122	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)		GAGGTGCTTCCTTGACTCTAC	0.547000														53			23		0	0	0.004656	0	0
OR13G1	441933	broad.mit.edu	37	1	247835968	247835968	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr1:247835968G>A	uc001idi.1	-	0	376	c.376C>T	c.(376-378)Cct>Tct	p.P126S		NM_001005487	NP_001005487	Q8NGZ3	O13G1_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily G, member 1 (OR13G1), mRNA.	126					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35	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)			TAATGAAGAGGGAAACAAATG	0.493000														22			6		0	0	0.001168	0	0
SATB1	6304	broad.mit.edu	37	3	18390941	18390942	+	Missense_Mutation	DNP	GT	AG	AG			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr3:18390941_18390942GT>AG	uc003cbh.3	-	10	3747_3748	c.2012_2013AC>CT	c.(2011-2013)gac>gCT	p.D671A	SATB1_uc003cbi.3_Missense_Mutation_p.D703A|SATB1_uc003cbj.3_Missense_Mutation_p.D671A	NM_002971	NP_002962	Q01826	SATB1_HUMAN	Homo sapiens SATB homeobox 1 (SATB1), transcript variant 1, mRNA.	671					cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter	PML body|nuclear matrix	double-stranded DNA binding|sequence-specific DNA binding			NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						TGGCCTCTTCGTCAGGGTACAG	0.520000														80			33		0	0	0.004672	0	0
PEG3	5178	broad.mit.edu	37	19	57326417	57326417	+	Silent	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr19:57326417C>T	uc002qnu.2	-	6	3744	c.3393G>A	c.(3391-3393)agG>agA	p.R1131R	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.R1102R|PEG3_uc002qnv.2_Silent_p.R1131R|PEG3_uc002qnw.2_Silent_p.R1007R|PEG3_uc002qnx.2_Silent_p.R1005R|PEG3_uc010etr.2_Silent_p.R1131R	NM_001146186	NP_001139657	Q9GZU2	PEG3_HUMAN	Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA.	1131					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.S1130N(1)		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)		CCAGGCACTTCCTGCTGTGGA	0.478000														78			39		0	0	0.007835	0	0
PTCHD3	374308	broad.mit.edu	37	10	27687508	27687508	+	Silent	SNP	C	T	T	rs145775010		TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr10:27687508C>T	uc001itu.2	-	3	2137	c.2019G>A	c.(2017-2019)agG>agA	p.R673R		NM_001034842	NP_001030014	Q3KNS1	PTHD3_HUMAN	Homo sapiens patched domain containing 3 (PTCHD3), mRNA.	673					spermatid development	integral to membrane	hedgehog receptor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						CCAGTTTTTGCCTAACATCTT	0.294000														28			5		0	0	0.000602	0	0
PCDHB2	56133	broad.mit.edu	37	5	140475055	140475055	+	Silent	SNP	G	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr5:140475055G>T	uc003lil.3	+	0	819	c.681G>T	c.(679-681)acG>acT	p.T227T	PCDHB2_uc003lim.1_5'UTR	NM_018936	NP_061759	Q9Y5E7	PCDB2_HUMAN	Homo sapiens protocadherin beta 2 (PCDHB2), mRNA.	227	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	p.T227M(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGTCCGGCACGGCCCTGGTAC	0.587000														18			8		1.12685e-05	2.18133e-05	0.004482	1	0
TNNI3	7137	broad.mit.edu	37	19	55663277	55663277	+	Silent	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr19:55663277C>T	uc002qjg.4	-	7	558	c.558G>A	c.(556-558)cgG>cgA	p.R186R	TNNT1_uc002qjb.4_5'Flank|TNNT1_uc002qjc.4_5'Flank|TNNT1_uc002qje.4_5'Flank|TNNT1_uc002qjd.4_5'Flank|TNNT1_uc002qjf.2_5'Flank|TNNI3_uc010yft.2_Non-coding_Transcript	NM_000363	NP_000354	P19429	TNNI3_HUMAN	Homo sapiens troponin I type 3 (cardiac) (TNNI3), mRNA.	186			R -> Q (in CMH7).		cardiac muscle contraction|cellular calcium ion homeostasis|muscle filament sliding|negative regulation of ATPase activity|regulation of systemic arterial blood pressure by ischemic conditions|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	cytosol|troponin complex	actin binding|calcium channel inhibitor activity|calcium-dependent protein binding|protein domain specific binding|protein kinase binding|troponin C binding|troponin T binding	p.R186W(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		CTCCCACCTCCCGGTTTTCCT	0.572000														38			24		0	0	0.002445	0	0
TRIM36	55521	broad.mit.edu	37	5	114499263	114499263	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr5:114499263G>A	uc003kqs.3	-	1	759	c.250C>T	c.(250-252)Cgg>Tgg	p.R84W	TRIM36_uc011cwc.2_Missense_Mutation_p.R72W|TRIM36_uc003kqt.3_Intron	NM_018700	NP_061170	Q9NQ86	TRI36_HUMAN	Homo sapiens tripartite motif containing 36 (TRIM36), transcript variant 1, mRNA.	84						acrosomal vesicle|cytoskeleton	ligase activity|zinc ion binding	p.R84W(2)		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)		GAGGGGAGCCGAAGTCGAGGA	0.443000														53			23		0	0	0.005443	0	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	117244	117244	+	RNA	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chrGL000205.1:117244G>A	uc002kgk.4	+	0		c.622G>A								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		TGAGGAATTCGCCCCCAGATC	0.522000														47			8		0	0	0.004482	0	0
TCRA	0	broad.mit.edu	37	14	22636742	22636742	+	Silent	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr14:22636742C>T	uc001wdi.2	+	1	227	c.195C>T	c.(193-195)ttC>ttT	p.F65F	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_uc010ajk.2_Intron|TCRA_uc001wdg.1_Intron|TCRA_uc021rpt.1_Intron|TCRA_uc010ajl.1_Intron|TCRA_uc021rpu.1_5'Flank					Homo sapiens mRNA for T cell receptor alpha variable 30, partial cds, clone: SEB 222.																		CACCCGTCTTCCTGATGATAT	0.453000														23			18		0	0	0.002299	0	0
RASSF6	166824	broad.mit.edu	37	4	74453578	74453578	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr4:74453578C>T	uc003hhd.1	-	4	580	c.457G>A	c.(457-459)Gaa>Aaa	p.E153K	RASSF6_uc003hhc.1_Missense_Mutation_p.E121K|RASSF6_uc010iik.1_Missense_Mutation_p.E121K|RASSF6_uc010iil.1_Missense_Mutation_p.E109K	NM_201431	NP_803876	Q6ZTQ3	RASF6_HUMAN	Homo sapiens Ras association (RalGDS/AF-6) domain family member 6 (RASSF6), transcript variant 2, mRNA.	153					apoptosis|signal transduction		protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|pancreas(2)|skin(2)	17	Breast(15;0.00102)		all cancers(17;0.00104)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)			TTCCTTTTTTCAGACATAGGA	0.368000														43			11		0	0	0.000978	0	0
ADAM30	11085	broad.mit.edu	37	1	120437244	120437244	+	Silent	SNP	C	T	T	rs145951922	byFrequency	TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr1:120437244C>T	uc001eij.3	-	0	1904	c.1716G>A	c.(1714-1716)acG>acA	p.T572T		NM_021794	NP_068566	Q9UKF2	ADA30_HUMAN	Homo sapiens ADAM metallopeptidase domain 30 (ADAM30), mRNA.	572	Cys-rich.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		AAATTATAGTCGTATGCTCTG	0.398000														384			185		0	0	0.003610	0	0
ANK3	288	broad.mit.edu	37	10	61835570	61835570	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr10:61835570G>A	uc001jky.3	-	36	5407	c.5069C>T	c.(5068-5070)tCa>tTa	p.S1690L	ANK3_uc001jkw.3_Intron|ANK3_uc009xpa.3_Intron|ANK3_uc001jkx.3_Intron|ANK3_uc010qih.2_Intron|ANK3_uc001jkz.4_Intron|ANK3_uc001jkv.3_Intron|ANK3_uc009xpb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	1690	Ser-rich.				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						TTTGGCTGATGAAATGACATC	0.408000														39			20		0	0	0.001523	0	0
ANXA5	308	broad.mit.edu	37	4	122589631	122589631	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr4:122589631C>A	uc003idu.4	-	11	1025	c.955G>T	c.(955-957)Gat>Tat	p.D319Y	ANXA5_uc003idv.4_Missense_Mutation_p.D319Y	NM_001154	NP_001145	P08758	ANXA5_HUMAN	Homo sapiens annexin A5 (ANXA5), mRNA.	319					anti-apoptosis|blood coagulation|negative regulation of coagulation|signal transduction	cytoplasm	calcium ion binding|calcium-dependent phospholipid binding|phospholipase inhibitor activity			NS(1)|breast(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)	15						CGTTAGTCATCTTCTCCACAG	0.493000														38			22		1.55469e-16	3.04547e-16	0.003330	1	0
GALNT2	2590	broad.mit.edu	37	1	230400986	230400986	+	Splice_Site	SNP	G	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr1:230400986G>T	uc010pwa.1	+	14	1386	c.1314_splice	c.e14-1	p.R438_splice	GALNT2_uc010pvy.1_Splice_Site_p.R400_splice|GALNT2_uc010pvz.1_Splice_Site|GALNT2_uc001htu.2_Splice_Site_p.R50_splice	NM_004481	NP_004472	Q10471	GALT2_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2) (GALNT2), mRNA.	438					immunoglobulin biosynthetic process|protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	Golgi cisterna membrane|extracellular region|integral to Golgi membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2)	32	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)				TTGTTTTTCAGGGTTCCAGAC	0.527000														56			29		7.53681e-25	1.48227e-24	0.006320	1	0
KIAA0196	9897	broad.mit.edu	37	8	126071759	126071759	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr8:126071759G>A	uc003yrt.3	-	12	1876	c.1547C>T	c.(1546-1548)tCc>tTc	p.S516F	KIAA0196_uc011lir.2_Missense_Mutation_p.S368F	NM_014846	NP_055661	Q12768	STRUM_HUMAN	Homo sapiens KIAA0196 (KIAA0196), mRNA.	516					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)			TTGCAGATTGGATTCCAACTG	0.358000														34			5		0	0	0.001168	0	0
AHNAK2	113146	broad.mit.edu	37	14	105412865	105412865	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr14:105412865C>T	uc010axc.1	-	6	9043	c.8923G>A	c.(8923-8925)Gac>Aac	p.D2975N	AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Missense_Mutation_p.D2875N	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	2975						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)			AACTTGCTGTCTTTGGCAGTC	0.607000														170			83		0	0	0.003610	0	0
SUSD2	56241	broad.mit.edu	37	22	24579487	24579487	+	Silent	SNP	C	T	T	rs143350390	byFrequency	TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr22:24579487C>T	uc002zzn.1	+	2	356	c.312C>T	c.(310-312)ctC>ctT	p.L104L		NM_019601	NP_062547	Q9UGT4	SUSD2_HUMAN	Homo sapiens sushi domain containing 2 (SUSD2), mRNA.	104					immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						TCCAGACCCTCGGCCATGTGG	0.627000														58			20		0	0	0.002780	0	0
SBF1	6305	broad.mit.edu	37	22	50906053	50906053	+	Silent	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr22:50906053G>A	uc003blh.3	-	3	541	c.346C>T	c.(346-348)Ctg>Ttg	p.L116L	SBF1_uc011arx.2_5'Flank|SBF1_uc003bli.2_Silent_p.L117L	NM_002972	NP_002963	O95248	MTMR5_HUMAN	Homo sapiens SET binding factor 1 (SBF1), mRNA.	116					protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		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;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		GTGGGAGACAGGTGGGTCTGG	0.667000														28			17		0	0	0.007413	0	0
CCDC80	151887	broad.mit.edu	37	3	112357285	112357286	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr3:112357285_112357286CC>TT	uc003dzf.3	-	1	1685_1686	c.1467_1468GG>AA	c.(1465-1470)aaggag>aaAAag	p.E490K	CCDC80_uc011bhv.2_Missense_Mutation_p.E490K|CCDC80_uc003dzg.3_Missense_Mutation_p.E490K|CCDC80_uc003dzh.1_Missense_Mutation_p.E490K	NM_199512	NP_955806	Q76M96	CCD80_HUMAN	Homo sapiens coiled-coil domain containing 80 (CCDC80), transcript variant 2, mRNA.	490	Lys-rich.									breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						GGAGGTTTCTCCTTTGCTGGCT	0.574000														75			33		0	0	0.004672	0	0
CYP2E1	1571	broad.mit.edu	37	10	135351392	135351392	+	Silent	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr10:135351392C>T	uc001lnj.1	+	7	1326	c.1293C>T	c.(1291-1293)tcC>tcT	p.S431S	CYP2E1_uc001lnk.1_Silent_p.S294S|CYP2E1_uc009ybl.1_Silent_p.S232S|CYP2E1_uc009ybm.1_Silent_p.S85S|CYP2E1_uc001lnl.1_Silent_p.S232S	NM_000773	NP_000764	P05181	CP2E1_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily E, polypeptide 1 (CYP2E1), mRNA.	431					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)	AGCCATTTTCCACAGGTGAGA	0.473000									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of					19			14		0	0	0.003163	0	0
CRADD	8738	broad.mit.edu	37	12	94243947	94243948	+	Nonsense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr12:94243947_94243948GG>AA	uc001tda.3	+	2	604_605	c.500_501GG>AA	c.(499-501)tgg>tAA	p.W167*	CRADD_uc010sur.1_Intron|CRADD_uc010sus.1_Intron	NM_003805	NP_003796	P78560	CRADD_HUMAN	Homo sapiens CASP2 and RIPK1 domain containing adaptor with death domain (CRADD), mRNA.	167	Death.				apoptosis|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|signal transduction	intracellular	death domain binding|protease binding|protein binding, bridging			endometrium(1)|large_intestine(5)|lung(1)|ovary(1)	8						TTCATCCGTTGGCGGCAGCGCT	0.629000														44			20		0	0	0.004672	0	0
KIAA0226	9711	broad.mit.edu	37	3	197427665	197427665	+	Silent	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr3:197427665C>T	uc003fyc.2	-	6	1263	c.1080G>A	c.(1078-1080)caG>caA	p.Q360Q	KIAA0226_uc003fyd.3_Silent_p.Q300Q|KIAA0226_uc003fye.1_Silent_p.Q67Q|KIAA0226_uc003fyf.3_Silent_p.Q193Q|KIAA0226_uc003fyg.3_Silent_p.Q353Q	NM_014687	NP_055502	Q92622	RUBIC_HUMAN	Homo sapiens KIAA0226 (KIAA0226), transcript variant 2, mRNA.	360	Ser-rich.				autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis	early endosome|late endosome|lysosome	protein binding			NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		AATCTGGCTTCTGGGAGCTGC	0.602000														47			11		0	0	0.001855	0	0
DSP	1832	broad.mit.edu	37	6	7584254	7584254	+	Silent	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr6:7584254C>T	uc003mxp.1	+	23	7038	c.6759C>T	c.(6757-6759)ttC>ttT	p.F2253F	DSP_uc003mxq.1_Silent_p.F1654F|DSP_uc021yle.1_Silent_p.F1810F	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	2253	Globular 2.				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)		TTAAGGACTTCCTCCAGGGTT	0.443000														34			15		0	0	0.002450	0	0
OR14C36	127066	broad.mit.edu	37	1	248512862	248512862	+	Silent	SNP	G	A	A	rs143199703		TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr1:248512862G>A	uc010pzl.2	+	0	786	c.786G>A	c.(784-786)gcG>gcA	p.A262A		NM_001001918	NP_001001918	Q8NHC7	O14CZ_HUMAN	Homo sapiens olfactory receptor, family 14, subfamily C, member 36 (OR14C36), mRNA.	262					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A262A(2)		central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2)	43						GGCCACCTGCGATACCTGCAG	0.463000														76			35		0	0	0.004878	0	0
LYSMD1	388695	broad.mit.edu	37	1	151134321	151134321	+	Missense_Mutation	SNP	G	A	A	rs138522958		TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr1:151134321G>A	uc001ewy.3	-	1	1072	c.436C>T	c.(436-438)Ccc>Tcc	p.P146S	SCNM1_uc021oyk.1_Intron|LYSMD1_uc010pcr.2_Missense_Mutation_p.P98S	NM_212551	NP_997716	Q96S90	LYSM1_HUMAN	Homo sapiens LysM, putative peptidoglycan-binding, domain containing 1 (LYSMD1), transcript variant 1, mRNA.	146					cell wall macromolecule catabolic process					endometrium(2)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7	Lung SC(34;0.00471)|Ovarian(49;0.0147)|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)			ATGGGCGTGGGGGTTTCCTGG	0.517000														78			34		0	0	0.002836	0	0
SIGLEC9	27180	broad.mit.edu	37	19	51630351	51630351	+	Silent	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr19:51630351C>T	uc010yct.2	+	3	908	c.813C>T	c.(811-813)gtC>gtT	p.V271V	SIGLEC9_uc002pvu.3_Silent_p.V271V	NM_001198558	NP_001185487	Q9Y336	SIGL9_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 9 (SIGLEC9), transcript variant 1, mRNA.	271	Ig-like C2-type 2.				cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		TGCGCCTGGTCTGTGCAGTTG	0.577000														68			26		0	0	0.007291	0	0
ERP27	121506	broad.mit.edu	37	12	15090942	15090942	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr12:15090942G>A	uc001rco.3	-	1	160	c.139C>T	c.(139-141)Cca>Tca	p.P47S		NM_152321	NP_689534	Q96DN0	ERP27_HUMAN	Homo sapiens endoplasmic reticulum protein 27 (ERP27), mRNA.	47	Thioredoxin.					endoplasmic reticulum lumen				breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(4)|lung(3)|prostate(2)|skin(1)	19						ATGGCAGCTGGGACATCTGTG	0.517000														67			32		0	0	0.004289	0	0
LCE3D	84648	broad.mit.edu	37	1	152552164	152552164	+	Silent	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr1:152552164G>A	uc021oza.1	-	0	249	c.249C>T	c.(247-249)ggC>ggT	p.G83G	LCE3D_uc001fab.3_Silent_p.G83G	NM_032563	NP_115952	Q9BYE3	LCE3D_HUMAN	Homo sapiens late cornified envelope 3D (LCE3D), mRNA.	83					keratinization					breast(1)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|stomach(2)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)	UCEC - Uterine corpus endometrioid carcinoma (5;0.153)|KIRC - Kidney renal clear cell carcinoma(4;0.0323)|Kidney(5;0.0378)		CATGGCCGCAGCCAGAGCCCC	0.632000														79			39		0	0	0.002222	0	0
AQP9	366	broad.mit.edu	37	15	58476165	58476165	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr15:58476165G>A	uc002aez.2	+	5	1076	c.719G>A	c.(718-720)gGa>gAa	p.G240E	ALDH1A2_uc010ugw.2_Intron|AQP9_uc010ugx.1_Missense_Mutation_p.G175E	NM_020980	NP_066190	O43315	AQP9_HUMAN	Homo sapiens aquaporin 9 (AQP9), mRNA.	240					cellular response to cAMP|excretion|immune response|metabolic process|response to mercury ion|response to osmotic stress|water homeostasis	integral to plasma membrane|intracellular membrane-bounded organelle	amine transmembrane transporter activity|carboxylic acid transmembrane transporter activity|glycerol channel activity|porin activity|purine base transmembrane transporter activity|pyrimidine base transmembrane transporter activity|water channel activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)	21				GBM - Glioblastoma multiforme(80;0.16)		TTCAGAGCTGGAAACAACTTC	0.433000														92			34		0	0	0.003271	0	0
TRIM71	131405	broad.mit.edu	37	3	32932942	32932942	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr3:32932942C>T	uc003cff.3	+	3	2309	c.2246C>T	c.(2245-2247)tCc>tTc	p.S749F		NM_001039111	NP_001034200	Q2Q1W2	LIN41_HUMAN	Homo sapiens tripartite motif containing 71 (TRIM71), mRNA.	749					multicellular organismal development	cytoplasm	zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CACTTTGACTCCCCACGGGGT	0.582000														19			11		0	0	0.001855	0	0
CACNG3	10368	broad.mit.edu	37	16	24268165	24268165	+	Silent	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr16:24268165G>A	uc002dmf.3	+	0	1292	c.90G>A	c.(88-90)acG>acA	p.T30T		NM_006539	NP_006530	O60359	CCG3_HUMAN	Homo sapiens calcium channel, voltage-dependent, gamma subunit 3 (CACNG3), mRNA.	30					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.T30T(2)		NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		CAGTGGGCACGGACTACTGGT	0.443000														81			43		0	0	0.002852	0	0
FAM115A	9747	broad.mit.edu	37	7	143573471	143573471	+	Silent	SNP	G	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr7:143573471G>T	uc003wdo.2	-	1	364	c.231C>A	c.(229-231)ctC>ctA	p.L77L	FAM115A_uc011ktu.2_Intron|FAM115A_uc003wdp.2_Silent_p.L77L	NM_014719	NP_001193870	Q9Y4C2	F115A_HUMAN	Homo sapiens family with sequence similarity 115, member A (FAM115A), transcript variant 1, mRNA.	77										NS(1)|endometrium(1)|lung(5)	7	Melanoma(164;0.0903)					CTGCGTTCAGGAGAAAGGGCG	0.622000														17			12		1.61879e-10	3.15846e-10	0.001368	1	0
FRMPD2	143162	broad.mit.edu	37	10	49420096	49420096	+	Silent	SNP	G	A	A	rs116034209	byFrequency	TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr10:49420096G>A	uc001jgi.3	-	12	1843	c.1512C>T	c.(1510-1512)atC>atT	p.I504I	FRMPD2_uc001jgh.3_Silent_p.I472I|FRMPD2_uc001jgj.3_Silent_p.I473I	NM_001018071	NP_001018081	Q68DX3	FRPD2_HUMAN	Homo sapiens FERM and PDZ domain containing 2 (FRMPD2), transcript variant 3, mRNA.	504	FERM.				tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		TCATCCTCTCGATCAGACTCG	0.532000														23			8		0	0	0.004482	0	0
BSND	7809	broad.mit.edu	37	1	55472798	55472798	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr1:55472798C>T	uc001cye.3	+	2	644	c.401C>T	c.(400-402)cCt>cTt	p.P134L		NM_057176	NP_476517	Q8WZ55	BSND_HUMAN	Homo sapiens Bartter syndrome, infantile, with sensorineural deafness (Barttin) (BSND), mRNA.	134						basolateral plasma membrane|cytoplasm|integral to plasma membrane|protein complex				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17						TTGCTGGCCCCTGAGATGGGG	0.617000														47			18		0	0	0.007413	0	0
NBEA	26960	broad.mit.edu	37	13	35731359	35731359	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr13:35731359G>A	uc021rid.1	+	20	3330	c.2796G>A	c.(2794-2796)tgG>tgA	p.W932*	NBEA_uc021ric.1_Nonsense_Mutation_p.W932*	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	Homo sapiens neurobeachin (NBEA), transcript variant 1, mRNA.	932						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		AATATGAATGGGGAGGCTGGA	0.383000														33			27		0	0	0.003954	0	0
ARHGAP36	158763	broad.mit.edu	37	X	130218228	130218228	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chrX:130218228G>A	uc004evz.3	+	4	940	c.595G>A	c.(595-597)Gga>Aga	p.G199R	ARHGAP36_uc004ewa.3_Missense_Mutation_p.G187R|ARHGAP36_uc004ewb.3_Missense_Mutation_p.G168R|ARHGAP36_uc004ewc.3_Missense_Mutation_p.G63R	NM_144967	NP_659404	Q6ZRI8	RHG36_HUMAN	Homo sapiens Rho GTPase activating protein 36 (ARHGAP36), mRNA.	199					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						GCTGGAAGACGGAGCCCTGCT	0.468000														6			13		0	0	0.003163	0	0
MRPL1	65008	broad.mit.edu	37	4	78792967	78792967	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr4:78792967T>G	uc003hku.2	+	1	299	c.101T>G	c.(100-102)gTa>gGa	p.V34G		NM_020236	NP_064621	Q9BYD6	RM01_HUMAN	Homo sapiens mitochondrial ribosomal protein L1 (MRPL1), nuclear gene encoding mitochondrial protein, mRNA.	34							RNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)	17						TCTTGTTCTGTAAACATCCGA	0.299000														45			19		0	0	0.002780	0	0
MME	4311	broad.mit.edu	37	3	154878182	154878182	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr3:154878182G>A	uc010hvr.1	+	16	1816	c.1605G>A	c.(1603-1605)tgG>tgA	p.W535*	MME_uc003fab.1_Nonsense_Mutation_p.W535*|MME_uc003fac.1_Nonsense_Mutation_p.W535*|MME_uc003fad.1_Nonsense_Mutation_p.W535*|MME_uc003fae.1_Nonsense_Mutation_p.W535*	NM_007289	NP_009220	P08473	NEP_HUMAN	Homo sapiens membrane metallo-endopeptidase (MME), transcript variant 2b, mRNA.	535					cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)	TCTACAGGTGGATAAGTGGAG	0.323000														207			73		0	0	0.003610	0	0
HDLBP	3069	broad.mit.edu	37	2	242195761	242195761	+	Silent	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr2:242195761G>A	uc002waz.3	-	6	884	c.711C>T	c.(709-711)atC>atT	p.I237I	HDLBP_uc002wba.3_Silent_p.I237I|HDLBP_uc021vzg.1_Silent_p.I273I|HDLBP_uc010fzn.1_5'UTR	NM_203346	NP_976221	Q00341	VIGLN_HUMAN	Homo sapiens high density lipoprotein binding protein (HDLBP), transcript variant 2, mRNA.	237	KH 2.				cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	RNA binding|lipid binding|protein binding			breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		ACGGCCCAGCGATGAAGGGGT	0.517000														52			13		0	0	0.002450	0	0
GPR113	165082	broad.mit.edu	37	2	26534871	26534871	+	Silent	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr2:26534871C>T	uc002rhe.4	-	10	1725	c.1725G>A	c.(1723-1725)cgG>cgA	p.R575R	GPR113_uc010yky.1_Silent_p.R506R|GPR113_uc002rhb.1_Silent_p.R178R|GPR113_uc010eyk.1_Silent_p.R376R|GPR113_uc002rhc.1_Silent_p.R178R|GPR113_uc002rhd.1_Non-coding_Transcript	NM_001145168	NP_001138640	Q8IZF5	GP113_HUMAN	Homo sapiens G protein-coupled receptor 113 (GPR113), transcript variant 1, mRNA.	575					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCCAGGGCTTCCGGGCTTGGG	0.597000														65			19		0	0	0.007413	0	0
LIMCH1	22998	broad.mit.edu	37	4	41686475	41686475	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr4:41686475C>T	uc003gvz.4	+	26	4324	c.3907C>T	c.(3907-3909)Cat>Tat	p.H1303Y	LIMCH1_uc003gwe.4_Missense_Mutation_p.H842Y|LIMCH1_uc003gvu.4_Missense_Mutation_p.H919Y|LIMCH1_uc003gvv.4_Missense_Mutation_p.H919Y|LIMCH1_uc003gvw.4_Missense_Mutation_p.H918Y|LIMCH1_uc003gvx.4_Missense_Mutation_p.H931Y|LIMCH1_uc003gvy.4_Missense_Mutation_p.H747Y|LIMCH1_uc003gwa.4_Missense_Mutation_p.H759Y|LIMCH1_uc011byu.2_Missense_Mutation_p.H752Y|LIMCH1_uc003gwc.4_Missense_Mutation_p.H764Y|LIMCH1_uc003gwd.4_Missense_Mutation_p.H752Y|LIMCH1_uc011byv.2_Missense_Mutation_p.H669Y|LIMCH1_uc011byw.2_Missense_Mutation_p.H218Y	NM_014988	NP_055803	Q9UPQ0	LIMC1_HUMAN	Homo sapiens LIM and calponin homology domains 1 (LIMCH1), transcript variant 1, mRNA.	919					actomyosin structure organization		actin binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						CCATGAAGACCATCAGCTGGA	0.463000														29			9		0	0	0.006214	0	0
LOC399753	399753	broad.mit.edu	37	10	49218498	49218498	+	Silent	SNP	A	G	G			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr10:49218498A>G	uc001jgd.3	-	7	1800	c.1641T>C	c.(1639-1641)tcT>tcC	p.S547S	DQ588224_uc001jge.1_5'Flank					Homo sapiens uncharacterized LOC399753 (LOC399753), non-coding RNA.																		GCTGGCCCAGAGACAGCTCAG	0.582000														55			4		0	0	0.006214	0	0
TCR-_alpha_V_33.1	0	broad.mit.edu	37	14	22783182	22783182	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr14:22783182C>T	uc001wdq.2	+	1	185	c.178C>T	c.(178-180)Ctt>Ttt	p.L60F	TCRA_uc001wbw.2_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_uc010ajk.2_Intron|TCRA_uc001wdg.1_Intron|TCRA_uc021rpt.1_Intron|TCRA_uc010ajl.1_Intron|AV4S1_uc021rpv.1_Intron|TCRA_uc010ajo.1_Intron|TCRA_uc010ajp.1_Intron|TCRA_uc021rpw.1_Intron|TRAV38-2DV8_uc010tmr.2_Intron					Homo sapiens mRNA for T cell receptor alpha variable 40, partial cds, clone: un 107.																		GTACCCTACCCTTTTCTGGTA	0.478000														11			17		0	0	0.001523	0	0
C1orf222	339457	broad.mit.edu	37	1	1855330	1855330	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr1:1855330C>T	uc001aik.3	-	6	1121	c.271G>A	c.(271-273)Gcc>Acc	p.A91T	C1orf222_uc001ail.3_Missense_Mutation_p.A91T			Q69YW0	CA222_HUMAN	RecName: Full=Uncharacterized protein C1orf222;	91										breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)	11	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.82e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.75e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		TTGACGGGGGCCACGCTGAAC	0.602000														27			16		0	0	0.004990	0	0
FAM75A6	389730	broad.mit.edu	37	9	43626910	43626910	+	Nonsense_Mutation	SNP	T	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr9:43626910T>A	uc011lrb.2	-	3	1806	c.1777A>T	c.(1777-1779)Aga>Tga	p.R593*		NM_001145196	NP_001138668	Q5VVP1	F75A6_HUMAN	Homo sapiens family with sequence similarity 75, member A6 (FAM75A6), mRNA.	593						integral to membrane				breast(2)|endometrium(3)|kidney(4)|lung(36)|prostate(4)|skin(2)|soft_tissue(1)|stomach(1)|urinary_tract(1)	54						TCCAGTTGTCTCCGGAGTTCA	0.488000														51			18		0	0	0.001882	0	0
THSD7B	80731	broad.mit.edu	37	2	137814764	137814764	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr2:137814764C>T	uc002tva.1	+	1	821	c.821C>T	c.(820-822)tCg>tTg	p.S274L	THSD7B_uc010zbj.1_Non-coding_Transcript|THSD7B_uc002tvb.3_Missense_Mutation_p.S164L	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)		CGGCAGGTTTCGTGTACAAGA	0.363000														19			10		0	0	0.000673	0	0
RBP3	5949	broad.mit.edu	37	10	48382189	48382189	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr10:48382189A>G	uc001jez.3	-	3	3574	c.3460T>C	c.(3460-3462)Ttc>Ctc	p.F1154L		NM_002900	NP_002891	P10745	RET3_HUMAN	Homo sapiens retinol binding protein 3, interstitial (RBP3), mRNA.	1154	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)	ATATAGGTGAACTCCTCCGCG	0.597000														34			15		0	0	0.003163	0	0
FBXO40	51725	broad.mit.edu	37	3	121340479	121340479	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr3:121340479C>T	uc003eeg.2	+	2	413	c.203C>T	c.(202-204)tCc>tTc	p.S68F		NM_016298	NP_057382	Q9UH90	FBX40_HUMAN	Homo sapiens F-box protein 40 (FBXO40), mRNA.	68					muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		TGCCTCAACTCCGAATATGGC	0.602000														70			17		0	0	0.007413	0	0
MARCO	8685	broad.mit.edu	37	2	119732103	119732103	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr2:119732103C>T	uc002tln.1	+	5	707	c.575C>T	c.(574-576)tCg>tTg	p.S192L	MARCO_uc010yyf.1_Missense_Mutation_p.S114L	NM_006770	NP_006761	Q9UEW3	MARCO_HUMAN	Homo sapiens macrophage receptor with collagenous structure (MARCO), mRNA.	192	Collagen-like.				cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity	p.S192W(2)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						CCAGGCCCCTCGGGACCCCAA	0.537000														29			11		0	0	0.004990	0	0
KIAA0240	23506	broad.mit.edu	37	6	42797717	42797717	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr6:42797717C>T	uc003osn.1	+	5	1797	c.1646C>T	c.(1645-1647)gCc>gTc	p.A549V	KIAA0240_uc003osm.1_Missense_Mutation_p.A549V|KIAA0240_uc011duw.1_Missense_Mutation_p.A549V|KIAA0240_uc003oso.1_Missense_Mutation_p.A549V|KIAA0240_uc003osp.1_Missense_Mutation_p.A549V	NM_015349	NP_056164	Q6AI39	K0240_HUMAN	Homo sapiens KIAA0240 (KIAA0240), mRNA.	549										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)			GCCAGCACTGCCCATCCTAGT	0.547000														31			9		0	0	0.004482	0	0
LRIG3	121227	broad.mit.edu	37	12	59272618	59272618	+	Silent	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr12:59272618G>A	uc001sqr.3	-	13	2317	c.2071C>T	c.(2071-2073)Ctg>Ttg	p.L691L	LRIG3_uc009zqh.3_Silent_p.L631L|LRIG3_uc010ssh.2_Non-coding_Transcript	NM_153377	NP_700356	Q6UXM1	LRIG3_HUMAN	Homo sapiens leucine-rich repeats and immunoglobulin-like domains 3 (LRIG3), transcript variant 2, mRNA.	691	Ig-like C2-type 2.					integral to membrane			LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			AGGACAGTCAGAGTTGCATTT	0.423000			T	ROS1	NSCLC									53			23		0	0	0.003330	0	0
CYP7B1	9420	broad.mit.edu	37	8	65527590	65527590	+	Silent	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr8:65527590G>A	uc003xvj.2	-	3	1254	c.1050C>T	c.(1048-1050)atC>atT	p.I350I		NM_004820	NP_004811	O75881	CP7B1_HUMAN	Homo sapiens cytochrome P450, family 7, subfamily B, polypeptide 1 (CYP7B1), mRNA.	350					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)				TACCTAGGCAGATTAGGCTGT	0.433000														31			18		0	0	0.001523	0	0
AP4E1	23431	broad.mit.edu	37	15	51260513	51260513	+	Silent	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr15:51260513G>A	uc001zyx.2	+	14	2012	c.1905G>A	c.(1903-1905)caG>caA	p.Q635Q	AP4E1_uc021skz.1_Silent_p.Q560Q	NM_007347	NP_031373	Q9UPM8	AP4E1_HUMAN	Homo sapiens adaptor-related protein complex 4, epsilon 1 subunit (AP4E1), transcript variant 1, mRNA.	635					intracellular protein transport|vesicle-mediated transport	COPI vesicle coat	binding|structural molecule activity			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27				all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)		GACTCAGTCAGGGTGCAGCGC	0.373000														11			6		0	0	0.003080	0	0
KCNQ5	56479	broad.mit.edu	37	6	73787095	73787095	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr6:73787095G>A	uc011dyh.2	+	3	1014	c.667G>A	c.(667-669)Ggt>Agt	p.G223S	KCNQ5_uc003pgj.4_Missense_Mutation_p.G223S|KCNQ5_uc011dyi.2_Missense_Mutation_p.G223S|KCNQ5_uc010kat.3_Missense_Mutation_p.G223S|KCNQ5_uc003pgk.3_Missense_Mutation_p.G223S|KCNQ5_uc011dyj.2_Missense_Mutation_p.G223S|KCNQ5_uc011dyk.2_5'UTR	NM_001160133	NP_001153605	Q9NR82	KCNQ5_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 5 (KCNQ5), transcript variant 4, mRNA.	223					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		AAAAACTCAGGGTAATATTTT	0.458000														41			21		0	0	0.001882	0	0
SNX33	257364	broad.mit.edu	37	15	75942128	75942128	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr15:75942128C>T	uc002bau.3	+	0	781	c.685C>T	c.(685-687)Cca>Tca	p.P229S	IMP3_uc002bat.2_5'Flank|SNX33_uc002bav.3_5'UTR	NM_153271	NP_695003	Q8WV41	SNX33_HUMAN	Homo sapiens sorting nexin 33 (SNX33), mRNA.	229					cell communication		phosphatidylinositol binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	19						CAATCCCCACCCATTTGCCTG	0.557000														65			23		0	0	0.004656	0	0
FCGBP	8857	broad.mit.edu	37	19	40398331	40398331	+	Silent	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr19:40398331C>T	uc002omp.4	-	13	6644	c.6636G>A	c.(6634-6636)ggG>ggA	p.G2212G		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	2212	VWFD 5.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GGTTGTAGTTCCCGCATAAGC	0.692000														90			24		0	0	0.002096	0	0
MAG	4099	broad.mit.edu	37	19	35793435	35793435	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr19:35793435A>G	uc002nyy.2	+	6	1253	c.1055A>G	c.(1054-1056)aAc>aGc	p.N352S	MAG_uc002nyx.2_Missense_Mutation_p.N352S|MAG_uc010eds.2_Missense_Mutation_p.N327S|MAG_uc002nyz.2_Missense_Mutation_p.N352S	NM_002361	NP_001186145	P20916	MAG_HUMAN	Homo sapiens myelin associated glycoprotein (MAG), transcript variant 1, mRNA.	352	Ig-like C2-type 3.				blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding	p.S351R(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			ACACAGAGCAACCCGGACCCT	0.602000														31			16		0	0	0.003163	0	0
ARHGAP30	257106	broad.mit.edu	37	1	161017585	161017585	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr1:161017585G>A	uc001fxl.3	-	11	3572	c.3226C>T	c.(3226-3228)Cct>Tct	p.P1076S	USF1_uc001fxj.3_5'Flank|USF1_uc001fxi.3_5'Flank|ARHGAP30_uc001fxk.3_Missense_Mutation_p.P865S|ARHGAP30_uc001fxm.3_Missense_Mutation_p.P922S|ARHGAP30_uc009wtx.3_Missense_Mutation_p.P749S	NM_001025598	NP_001020769	Q7Z6I6	RHG30_HUMAN	Homo sapiens Rho GTPase activating protein 30 (ARHGAP30), transcript variant 1, mRNA.	1076					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			AGGGGGTCAGGAACCTGGGGT	0.582000														52			30		0	0	0.007291	0	0
KIAA1199	57214	broad.mit.edu	37	15	81181826	81181826	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr15:81181826G>A	uc002bfw.1	+	8	1239	c.979G>A	c.(979-981)Gag>Aag	p.E327K	KIAA1199_uc010unn.1_Missense_Mutation_p.E327K	NM_018689	NP_061159	Q8WUJ3	K1199_HUMAN	Homo sapiens KIAA1199 (KIAA1199), mRNA.	327								p.T326M(1)		breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						GGAGTGGACGGAGTGGTTCGA	0.483000														42			17		0	0	0.001216	0	0
GPR149	344758	broad.mit.edu	37	3	154138913	154138913	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr3:154138913C>T	uc003faa.3	-	2	1638	c.1538G>A	c.(1537-1539)aGa>aAa	p.R513K		NM_001038705	NP_001033794	Q86SP6	GP149_HUMAN	Homo sapiens G protein-coupled receptor 149 (GPR149), mRNA.	513						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)			AGACAGTCTTCTTTCTGGCCC	0.413000														54			48		0	0	0.002852	0	0
CYTIP	9595	broad.mit.edu	37	2	158300433	158300434	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr2:158300433_158300434GG>AA	uc002tzj.1	-	0	171_172	c.99_100CC>TT	c.(97-102)agcctt>agTTtt	p.L34F	CYTIP_uc010zcl.1_Intron	NM_004288	NP_004279	O60759	CYTIP_HUMAN	Homo sapiens cytohesin 1 interacting protein (CYTIP), mRNA.	34					regulation of cell adhesion	cell cortex|early endosome	protein binding			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	15						TCCATCGTAAGGCTGCCGGTGA	0.500000														53			30		0	0	0.004672	0	0
SPINK5	11005	broad.mit.edu	37	5	147488359	147488359	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr5:147488359G>A	uc003lox.2	+	17	1724	c.1651G>A	c.(1651-1653)Ggg>Agg	p.G551R	SPINK5_uc010jgs.1_Missense_Mutation_p.G523R|SPINK5_uc010jgr.2_Missense_Mutation_p.G532R|SPINK5_uc003low.2_Missense_Mutation_p.G551R|SPINK5_uc003loy.2_Missense_Mutation_p.G551R	NM_006846	NP_006837	Q9NQ38	ISK5_HUMAN	Homo sapiens serine peptidase inhibitor, Kazal type 5 (SPINK5), transcript variant 2, mRNA.	551	Kazal-like 8.				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)			agaagaaaaagggaaagtcga	0.363000														56			21		0	0	0.001882	0	0
NLK	51701	broad.mit.edu	37	17	26370206	26370206	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr17:26370206C>T	uc010crj.3	+	0	519	c.307C>T	c.(307-309)Cct>Tct	p.P103S		NM_016231	NP_057315	Q9UBE8	NLK_HUMAN	Homo sapiens nemo-like kinase (NLK), mRNA.	103					Wnt receptor signaling pathway|intracellular protein kinase cascade|negative regulation of Wnt receptor signaling pathway|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|serine phosphorylation of STAT3 protein|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	ATP binding|MAP kinase activity|SH2 domain binding|magnesium ion binding|transcription factor binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(1)	14	all_lung(13;0.000343)|Lung NSC(42;0.00184)			UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		GGGGCAGGCTCCTGGACCAGC	0.627000														23			17		0	0	0.006122	0	0
TBC1D3P2	440452	broad.mit.edu	37	17	60342357	60342357	+	RNA	SNP	T	G	G			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr17:60342357T>G	uc010woz.2	-	13		c.1772A>C								Homo sapiens TBC1 domain family, member 3 pseudogene 2 (TBC1D3P2), non-coding RNA.											breast(2)|kidney(1)|lung(2)	5						TATCCAGCCATGAGCCCTGGC	0.488000														79			4		0	0	0.001984	0	0
ARHGEF10L	55160	broad.mit.edu	37	1	18021672	18021672	+	Silent	SNP	C	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr1:18021672C>A	uc001ban.3	+	27	3363	c.3204C>A	c.(3202-3204)gtC>gtA	p.V1068V	ARHGEF10L_uc001bao.3_Silent_p.V1029V|ARHGEF10L_uc001bap.3_Silent_p.V1024V|ARHGEF10L_uc001baq.3_Silent_p.V829V|ARHGEF10L_uc010ocs.2_Silent_p.V841V|ARHGEF10L_uc001bar.3_Silent_p.V771V|ARHGEF10L_uc009vpf.3_Non-coding_Transcript|ARHGEF10L_uc001bas.3_Silent_p.V92V	NM_018125	NP_060595	Q9HCE6	ARGAL_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 10-like (ARHGEF10L), transcript variant 1, mRNA.	1068					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		ACTTGTGTGTCACCAGCCTCC	0.632000														41			24		9.86323e-18	1.93466e-17	0.003954	1	0
LOC645752	645752	broad.mit.edu	37	15	78211452	78211452	+	Silent	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr15:78211452C>T	uc010bky.2	-	10	1079	c.315G>A	c.(313-315)gaG>gaA	p.E105E						Homo sapiens golgi autoantigen, golgin subfamily a, 6 pseudogene (LOC645752), non-coding RNA.																		CTCGGATCATCTCCTCCTGCT	0.577000														68			40		0	0	0.005524	0	0
DSPP	1834	broad.mit.edu	37	4	88533324	88533324	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr4:88533324C>T	uc003hqu.3	+	2	239	c.119C>T	c.(118-120)tCa>tTa	p.S40L		NM_014208	NP_055023	Q9NZW4	DSPP_HUMAN	Homo sapiens dentin sialophosphoprotein (DSPP), mRNA.	40					biomineral tissue development|ossification|skeletal system development	proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent	p.S40*(2)		breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		CTAGCAAGATCAAATGTGTCA	0.358000														15			11		0	0	0.000978	0	0
LRRIQ3	127255	broad.mit.edu	37	1	74507600	74507600	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr1:74507600C>T	uc001dfy.4	-	6	1207	c.1015G>A	c.(1015-1017)Gaa>Aaa	p.E339K	LRRIQ3_uc001dfz.4_Non-coding_Transcript	NM_001105659	NP_001099129	A6PVS8	LRIQ3_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 3 (LRRIQ3), mRNA.	339										NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						TCCACAATTTCATCTTCAGAC	0.308000														22			7		0	0	0.006214	0	0
L1TD1	54596	broad.mit.edu	37	1	62676159	62676159	+	Silent	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr1:62676159G>A	uc021ooc.1	+	4	2148	c.1713G>A	c.(1711-1713)aaG>aaA	p.K571K	L1TD1_uc001dae.4_Silent_p.K571K	NM_001164835	NP_061952	Q5T7N2	LITD1_HUMAN	Homo sapiens LINE-1 type transposase domain containing 1 (L1TD1), transcript variant 1, mRNA.	571										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	35						AGCATAAAAAGCATTCACATA	0.418000														26			12		0	0	0.001368	0	0
CDCA2	157313	broad.mit.edu	37	8	25341639	25341639	+	Silent	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr8:25341639C>T	uc003xep.1	+	9	1755	c.1278C>T	c.(1276-1278)ttC>ttT	p.F426F	DOCK5_uc003xek.3_Intron|CDCA2_uc011lae.1_Silent_p.F426F|CDCA2_uc003xeq.1_Silent_p.F411F|CDCA2_uc003xer.1_Silent_p.F89F	NM_152562	NP_689775	Q69YH5	CDCA2_HUMAN	Homo sapiens cell division cycle associated 2 (CDCA2), mRNA.	426					cell division|mitosis	cytoplasm|nucleus				breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3)	35		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)		AAAAAGACTTCAGTGGTCTCA	0.433000														56			34		0	0	0.002445	0	0
TGFBRAP1	9392	broad.mit.edu	37	2	105915153	105915153	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr2:105915153G>A	uc002tcq.3	-	2	782	c.698C>T	c.(697-699)gCc>gTc	p.A233V	TGFBRAP1_uc010fjc.3_Missense_Mutation_p.A3V|TGFBRAP1_uc002tcr.4_Missense_Mutation_p.A233V	NM_004257	NP_004248	Q8WUH2	TGFA1_HUMAN	Homo sapiens transforming growth factor, beta receptor associated protein 1 (TGFBRAP1), transcript variant 1, mRNA.	233	CNH.				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						TGCGACTGTGGCAAACATGCC	0.532000														16			7		0	0	0.001984	0	0
COX10	1352	broad.mit.edu	37	17	14110519	14110520	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr17:14110519_14110520CC>TT	uc002gof.4	+	6	1525_1526	c.1321_1322CC>TT	c.(1321-1323)cct>TTt	p.P441F	COX10_uc010vvs.2_Missense_Mutation_p.P224F|COX10_uc010vvt.2_Missense_Mutation_p.P249F	NM_001303	NP_001294	Q12887	COX10_HUMAN	Homo sapiens COX10 homolog, cytochrome c oxidase assembly protein, heme A: farnesyltransferase (yeast) (COX10), nuclear gene encoding mitochondrial protein, mRNA.	441					heme O biosynthetic process|heme a biosynthetic process|respiratory chain complex IV assembly	integral to membrane|mitochondrial membrane	protoheme IX farnesyltransferase activity			cervix(1)|endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14		all_lung(20;0.06)|Lung SC(565;0.168)		UCEC - Uterine corpus endometrioid carcinoma (92;0.106)		CGCAGGGCCCCCTCCCAGCTGA	0.644000														11			5		0	0	0.004672	0	0
MTUS2	23281	broad.mit.edu	37	13	29600696	29600696	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr13:29600696G>A	uc001usl.4	+	0	1949	c.1891G>A	c.(1891-1893)Gaa>Aaa	p.E631K		NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN	Homo sapiens microtubule associated tumor suppressor candidate 2 (MTUS2), transcript variant 1, mRNA.	621						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						CTATCAGGTTGAAAAAACAGA	0.522000														17			14		0	0	0.002450	0	0
CYP2C19	1557	broad.mit.edu	37	10	96495020	96495020	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr10:96495020G>A	uc001kjv.4	+	9	1618	c.1292_splice	c.e9-1	p.G431_splice	CYP2C19_uc001kjw.4_Splice_Site_p.G372_splice|CYP2C19_uc009xus.1_Intron|CYP2C19_uc010qny.2_Intron	NM_000772	NP_000763	P33261	CP2CJ_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 18 (CYP2C18), transcript variant 1, mRNA.	431					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)	TTATTTTCAGGAAAACGGATG	0.408000														39			20		0	0	0.001882	0	0
UMPS	7372	broad.mit.edu	37	3	124456817	124456817	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr3:124456817C>T	uc003ehl.4	+	2	819	c.713C>T	c.(712-714)cCa>cTa	p.P238L	UMPS_uc011bkb.2_Missense_Mutation_p.P146L|UMPS_uc003ehn.4_Missense_Mutation_p.P60L|UMPS_uc003ehm.4_Non-coding_Transcript|UMPS_uc011bka.2_Missense_Mutation_p.P60L|UMPS_uc011bkc.2_Missense_Mutation_p.P60L|UMPS_uc011bkd.2_Missense_Mutation_p.P60L	NM_000373	NP_000364	P11172	UMPS_HUMAN	Homo sapiens uridine monophosphate synthetase (UMPS), transcript variant 1, mRNA.	238	OMPdecase.				'de novo' UMP biosynthetic process|'de novo' pyrimidine base biosynthetic process|pyrimidine nucleoside biosynthetic process	cytosol|nucleus	orotate phosphoribosyltransferase activity|orotidine-5'-phosphate decarboxylase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16				GBM - Glioblastoma multiforme(114;0.146)		AGGATCCACCCAGTTGCATCG	0.498000														51			30		0	0	0.002445	0	0
ATP13A4	84239	broad.mit.edu	37	3	193175233	193175233	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr3:193175233C>T	uc003ftd.3	-	14	1804	c.1696G>A	c.(1696-1698)Gat>Aat	p.D566N	ATP13A4_uc003fte.1_Missense_Mutation_p.D566N|ATP13A4_uc011bsr.1_Missense_Mutation_p.D37N|ATP13A4_uc010hzi.3_Non-coding_Transcript	NM_032279	NP_115655	Q4VNC1	AT134_HUMAN	Homo sapiens ATPase type 13A4 (ATP13A4), mRNA.	566					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	p.D566N(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		ATGTGGAAATCGTCCCCAGAA	0.478000														100			30		0	0	0.001786	0	0
LOC646214	646214	broad.mit.edu	37	15	21937686	21937686	+	RNA	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr15:21937686G>A	uc010tzj.1	-	0		c.3054C>T								Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 2 pseudogene (LOC646214), non-coding RNA.																		TTCCAGAAGGGAAGCCATCTT	0.498000														22			4		0	0	0.000248	0	0
FAM135B	51059	broad.mit.edu	37	8	139263132	139263132	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr8:139263132G>A	uc003yuy.3	-	5	665	c.494C>T	c.(493-495)tCg>tTg	p.S165L	FAM135B_uc003yux.3_Missense_Mutation_p.S66L|FAM135B_uc003yuz.3_Non-coding_Transcript	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA.	165										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)			GACGGTCACCGAGATCACAGA	0.582000										HNSCC(54;0.14)				67			34		0	0	0.002445	0	0
THSD7B	80731	broad.mit.edu	37	2	138033582	138033582	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr2:138033582G>A	uc002tva.1	+	10	2393	c.2393G>A	c.(2392-2394)gGg>gAg	p.G798E	THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.3_Missense_Mutation_p.G688E	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)		TGTGGAAAGGGGTTACAAACA	0.388000														25			11		0	0	0.000978	0	0
TRIM29	23650	broad.mit.edu	37	11	120008370	120008370	+	Nonsense_Mutation	SNP	T	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr11:120008370T>A	uc001pwz.3	-	0	494	c.370A>T	c.(370-372)Aag>Tag	p.K124*	TRIM29_uc001pxa.3_Non-coding_Transcript	NM_012101	NP_036233	Q14134	TRI29_HUMAN	Homo sapiens tripartite motif containing 29 (TRIM29), mRNA.	124					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)		AGCTCGCCCTTTTCGGCAAAG	0.632000														54			62		0	0	0.003610	0	0
C2orf89	129293	broad.mit.edu	37	2	85051299	85051299	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr2:85051299G>A	uc010ysl.2	-	5	1201	c.1112C>T	c.(1111-1113)cCc>cTc	p.P371L	C2orf89_uc002sou.4_Missense_Mutation_p.P322L	NM_001080824	NP_001074293	Q86V40	CB089_HUMAN	Homo sapiens chromosome 2 open reading frame 89 (C2orf89), mRNA.	371						integral to membrane				breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(3)	18						GGACAGAGTGGGCCGTGTGGA	0.567000														20			10		0	0	0.001368	0	0
CHD5	26038	broad.mit.edu	37	1	6206355	6206355	+	Silent	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr1:6206355G>A	uc001amb.2	-	10	1830	c.1719C>T	c.(1717-1719)ccC>ccT	p.P573P	CHD5_uc001ama.2_5'Flank|CHD5_uc001amc.1_Non-coding_Transcript	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 5 (CHD5), mRNA.	573					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		TGGCATAGAGGGGGTCCTTGT	0.547000														58			33		0	0	0.003271	0	0
GOLGA6L10	647042	broad.mit.edu	37	15	82635194	82635194	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr15:82635194T>C	uc021ssn.1	-	8	1476	c.1376A>G	c.(1375-1377)gAa>gGa	p.E459G		NM_001164465	NP_001157937	A6NI86	GG6LA_HUMAN	Homo sapiens golgin A6 family-like 10 (GOLGA6L10), mRNA.	459										endometrium(1)|kidney(4)	5						TGCAGCCTCTTCTGCTCCTCC	0.507000														9			7		0	0	0.001984	0	0
SLC7A6	9057	broad.mit.edu	37	16	68328619	68328619	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr16:68328619T>A	uc002evt.2	+	8	1347	c.1034T>A	c.(1033-1035)gTg>gAg	p.V345E	SLC7A6_uc002evv.2_Non-coding_Transcript|SLC7A6_uc002evu.2_Missense_Mutation_p.V345E|SLC7A6_uc010cfc.1_Non-coding_Transcript	NM_001076785	NP_003974	Q92536	YLAT2_HUMAN	Homo sapiens solute carrier family 7 (amino acid transporter light chain, y+L system), member 6 (SLC7A6), transcript variant 1, mRNA.	345					blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	basolateral plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|antiporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	16		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.034)|Epithelial(162;0.0948)		TTGTTCTTCGTGGGCTCCCGG	0.498000														111			58		0	0	0.003610	0	0
MYO5B	4645	broad.mit.edu	37	18	47581679	47581679	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr18:47581679C>T	uc002leb.2	-	1	385	c.97G>A	c.(97-99)Gaa>Aaa	p.E33K	MYO5B_uc021ukb.1_Missense_Mutation_p.E32K	NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN	Homo sapiens myosin VB (MYO5B), mRNA.	33	Myosin head-like.				protein transport	myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		TTGTCTCCTTCTTTGTAGTCC	0.537000														51			26		0	0	0.007291	0	0
CCDC88C	440193	broad.mit.edu	37	14	91875053	91875053	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr14:91875053G>A	uc010aty.3	-	2	374	c.220C>T	c.(220-222)Cgc>Tgc	p.R74C	CCDC88C_uc010twk.1_Missense_Mutation_p.R38C|CCDC88C_uc021ryl.1_Missense_Mutation_p.R66C|CCDC88C_uc001xzl.4_Missense_Mutation_p.R74C	NM_001080414	NP_001073883	Q9P219	DAPLE_HUMAN	Homo sapiens coiled-coil domain containing 88C (CCDC88C), mRNA.	74					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)				TTCTGAATGCGAAGGTTCACA	0.458000														28			8		0	0	0.004482	0	0
GLI2	2736	broad.mit.edu	37	2	121747129	121747129	+	Silent	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr2:121747129C>T	uc010flp.3	+	12	3669	c.3639C>T	c.(3637-3639)tcC>tcT	p.S1213S	GLI2_uc002tmq.1_Intron|GLI2_uc002tmr.1_Intron|GLI2_uc002tmt.4_Silent_p.S885S|GLI2_uc002tmu.4_Silent_p.S868S	NM_005270	NP_005261	P10070	GLI2_HUMAN	Homo sapiens GLI family zinc finger 2 (GLI2), mRNA.	1213					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				GAGCCCCCTCCCAGGGCATCC	0.662000														10			5		0	0	0.000602	0	0
CTNND2	1501	broad.mit.edu	37	5	11117663	11117663	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr5:11117663C>T	uc003jfa.1	-	12	2321	c.2176G>A	c.(2176-2178)Gga>Aga	p.G726R	CTNND2_uc010itt.2_Missense_Mutation_p.G635R|CTNND2_uc011cmy.1_Missense_Mutation_p.G389R|CTNND2_uc011cmz.1_Missense_Mutation_p.G293R|CTNND2_uc010itu.1_Non-coding_Transcript|CTNND2_uc011cmx.1_Missense_Mutation_p.G293R	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	Homo sapiens catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein) (CTNND2), mRNA.	726					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	p.A725A(1)		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						GCCTCCTCTCCGGCCGAACTA	0.527000														48			27		0	0	0.004656	0	0
VILL	50853	broad.mit.edu	37	3	38043243	38043243	+	Silent	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr3:38043243G>A	uc003chj.3	+	12	1657	c.1371G>A	c.(1369-1371)gaG>gaA	p.E457E	VILL_uc003chl.3_Silent_p.E457E|VILL_uc010hgu.3_Silent_p.E287E	NM_015873	NP_056957	O15195	VILL_HUMAN	Homo sapiens villin-like (VILL), mRNA.	457					actin filament capping|cytoskeleton organization	actin cytoskeleton	actin binding|structural constituent of cytoskeleton	p.E457*(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		GCAACGCTGAGGAACTAGATG	0.612000														21			12		0	0	0.001855	0	0
PRUNE2	158471	broad.mit.edu	37	9	79318902	79318902	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr9:79318902G>A	uc010mpk.3	-	8	7751	c.7627C>T	c.(7627-7629)Cgt>Tgt	p.R2543C	PRUNE2_uc004akj.4_5'UTR|PRUNE2_uc022big.1_Non-coding_Transcript|PRUNE2_uc010mpl.1_5'UTR|PRUNE2_uc022bih.1_Missense_Mutation_p.R2365C	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	Homo sapiens prune homolog 2 (Drosophila) (PRUNE2), mRNA.	2543					G1 phase|apoptosis|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						AGTGCATGACGATCTTCATTC	0.363000														67			73		0	0	0.003610	0	0
NBPF10	100132406	broad.mit.edu	37	1	145301820	145301820	+	Silent	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr1:145301820C>T	uc021oul.1	+	6	1124	c.1089C>T	c.(1087-1089)ctC>ctT	p.L363L	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|NBPF10_uc021ouk.1_Silent_p.L363L|NBPF10_uc010oyi.2_5'Flank|NBPF10_uc001emq.1_Silent_p.L92L|NBPF10_uc021oum.1_5'Flank	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 10 (NBPF10), mRNA.	363										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)		CTGAGGAGCTCAGGTGAGGGG	0.542000														186			10		0	0	0.003163	0	0
CNNM2	54805	broad.mit.edu	37	10	104831540	104831540	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr10:104831540C>T	uc001kwm.3	+	5	2340	c.2177C>T	c.(2176-2178)tCc>tTc	p.S726F	CNNM2_uc001kwn.3_Intron	NM_017649	NP_060119	Q9H8M5	CNNM2_HUMAN	Homo sapiens cyclin M2 (CNNM2), transcript variant 1, mRNA.	726					ion transport	integral to membrane				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		GTTCCTTTGTCCCTGTCTCGT	0.448000														89			26		0	0	0.001786	0	0
MAGI1	9223	broad.mit.edu	37	3	65350400	65350400	+	Splice_Site	SNP	C	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr3:65350400C>A	uc003dmn.3	-	20	3817	c.3291_splice	c.e20-1	p.R1097_splice	MAGI1_uc003dmm.3_Splice_Site_p.R1125_splice|MAGI1_uc003dmo.3_Splice_Site_p.R1126_splice|MAGI1_uc003dmp.3_Splice_Site_p.R1030_splice	NM_001033057	NP_001028229	Q96QZ7	MAGI1_HUMAN	Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 1 (MAGI1), transcript variant 3, mRNA.	1126					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)		TGGTGGTATTCCTGCCAAAGT	0.393000														32			17		1.67942e-08	3.25952e-08	0.006122	1	0
DHCR7	1717	broad.mit.edu	37	11	71146749	71146749	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr11:71146749C>T	uc001oqk.3	-	8	1350	c.1100G>A	c.(1099-1101)cGc>cAc	p.R367H	DHCR7_uc001oql.3_Missense_Mutation_p.R367H	NM_001163817	NP_001351	Q9UBM7	DHCR7_HUMAN	Homo sapiens 7-dehydrocholesterol reductase (DHCR7), transcript variant 2, mRNA.	367					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|nuclear outer membrane	7-dehydrocholesterol reductase activity|protein binding			endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(1)|skin(1)	19					NADH(DB00157)	GATGAGGCAGCGCCCATCCGT	0.662000									Smith-Lemli-Opitz syndrome					33			10		0	0	0.000673	0	0
PKHD1	5314	broad.mit.edu	37	6	51918863	51918863	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr6:51918863C>T	uc003pah.1	-	19	2213	c.1937G>A	c.(1936-1938)tGg>tAg	p.W646*	PKHD1_uc003pai.3_Nonsense_Mutation_p.W646*	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	646					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CGTGAGACTCCAGTCACAGGT	0.502000														27			11		0	0	0.000673	0	0
NPHP3	27031	broad.mit.edu	37	3	132440868	132440868	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr3:132440868G>C	uc003epe.2	-	0	436	c.332C>G	c.(331-333)tCc>tGc	p.S111C	NPHP3-AS1_uc003epg.1_5'Flank|NPHP3_uc003epf.2_5'UTR|NPHP3-AS1_uc010htu.2_5'Flank	NM_153240	NP_694972	Q7Z494	NPHP3_HUMAN	Homo sapiens nephronophthisis 3 (adolescent) (NPHP3), mRNA.	111					Wnt receptor signaling pathway|maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway	cilium	protein binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GCGGCCCATGGACAACAACTC	0.672000														14			40		0	0	0.003610	0	0
ACTRT2	140625	broad.mit.edu	37	1	2939042	2939042	+	Silent	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr1:2939042C>T	uc001ajz.3	+	0	997	c.792C>T	c.(790-792)ttC>ttT	p.F264F		NM_080431	NP_536356	Q8TDY3	ACTT2_HUMAN	Homo sapiens actin-related protein T2 (ACTRT2), mRNA.	264						cytoplasm|cytoskeleton				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)		AGGCCCTGTTCGTGCCCCAGC	0.642000														72			24		0	0	0.002780	0	0
ZBTB46	140685	broad.mit.edu	37	20	62407230	62407230	+	Silent	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr20:62407230G>A	uc002ygv.2	-	2	1224	c.1023C>T	c.(1021-1023)ctC>ctT	p.L341L	ZBTB46_uc002ygu.3_Non-coding_Transcript	NM_025224	NP_079500	Q86UZ6	ZBT46_HUMAN	Homo sapiens zinc finger and BTB domain containing 46 (ZBTB46), mRNA.	341					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)					CTCCTCCCAGGAGACCCTCCT	0.677000														33			14		0	0	0.001855	0	0
NFIC	4782	broad.mit.edu	37	19	3434309	3434309	+	Silent	SNP	C	T	T	rs112569402		TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr19:3434309C>T	uc010xhi.2	+	4	814	c.744C>T	c.(742-744)tcC>tcT	p.S248S	NFIC_uc002lxo.3_Silent_p.S239S|NFIC_uc010xhh.2_Silent_p.S239S|NFIC_uc010xhj.2_Silent_p.S248S|NFIC_uc002lxp.3_Silent_p.S248S	NM_001245002	NP_001231931	P08651	NFIC_HUMAN	Homo sapiens nuclear factor I/C (CCAAT-binding transcription factor) (NFIC), transcript variant 1, mRNA.	248					DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.8e-05)|Epithelial(107;2.94e-108)|BRCA - Breast invasive adenocarcinoma(158;0.00154)|STAD - Stomach adenocarcinoma(1328;0.191)		CCAACTTCTCCCTGGGGGAGC	0.612000														30			19		0	0	0.007413	0	0
CHST8	64377	broad.mit.edu	37	19	34180240	34180240	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr19:34180240C>T	uc002nus.4	+	2	578	c.73C>T	c.(73-75)Ctc>Ttc	p.L25F	CHST8_uc002nut.4_Missense_Mutation_p.L25F|CHST8_uc002nuu.3_Missense_Mutation_p.L25F	NM_001127895	NP_071912	Q9H2A9	CHST8_HUMAN	Homo sapiens carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8 (CHST8), transcript variant 2, mRNA.	25					carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5)	27	Esophageal squamous(110;0.162)					AGCTGCAGGCCTCCTCCTCTT	0.637000														69			42		0	0	0.003214	0	0
ADAM29	11086	broad.mit.edu	37	4	175898526	175898526	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr4:175898526A>T	uc003iuc.3	+	4	2520	c.1850A>T	c.(1849-1851)cAt>cTt	p.H617L	ADAM29_uc003iud.3_Missense_Mutation_p.H617L|ADAM29_uc010irr.3_Missense_Mutation_p.H617L|ADAM29_uc011cki.2_Missense_Mutation_p.H617L|ADAM29_uc021xuo.1_Missense_Mutation_p.H617L	NM_014269	NP_055084	Q9UKF5	ADA29_HUMAN	Homo sapiens ADAM metallopeptidase domain 29 (ADAM29), transcript variant 1, mRNA.	617	Cys-rich.				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)		CACTGTGTCCATATAACCATC	0.423000														48			31		0	0	0.003271	0	0
CMYA5	202333	broad.mit.edu	37	5	79089359	79089359	+	Silent	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr5:79089359C>T	uc003kgc.3	+	11	11961	c.11889C>T	c.(11887-11889)tcC>tcT	p.S3963S		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	Homo sapiens cardiomyopathy associated 5 (CMYA5), mRNA.	3963	B30.2/SPRY.					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)		GCATCTGCTCCAGCTCGGCTG	0.602000														40			22		0	0	0.002780	0	0
ATAD5	79915	broad.mit.edu	37	17	29162147	29162147	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr17:29162147G>A	uc002hfs.1	+	1	1391	c.1048G>A	c.(1048-1050)Gaa>Aaa	p.E350K	ATAD5_uc002hft.1_Missense_Mutation_p.E247K	NM_024857	NP_079133	Q96QE3	ATAD5_HUMAN	Homo sapiens ATPase family, AAA domain containing 5 (ATAD5), mRNA.	350					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				AAAGCAATTTGAAATGGAAAA	0.363000														35			7		0	0	0.001984	0	0
BC128131	0	broad.mit.edu	37	19	23159296	23159296	+	Silent	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr19:23159296C>T	uc002nqz.1	-	1	677	c.651G>A	c.(649-651)gaG>gaA	p.E217E	BC128131_uc002nqy.1_Non-coding_Transcript					Homo sapiens zinc finger protein 117, mRNA (cDNA clone IMAGE:40112371).																		TGTAGGGTTTCTCTCCAGCAT	0.418000														12			7		0	0	0.004482	0	0
APOC4	346	broad.mit.edu	37	19	45448414	45448415	+	RNA	DNP	GG	TT	TT			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr19:45448414_45448415GG>TT	uc002pah.3	+	2		c.276_277GG>TT				NM_001646		P55056	APOC4_HUMAN	Homo sapiens apolipoprotein C-IV (APOC4), mRNA.						lipid metabolic process|positive regulation of sequestering of triglyceride|triglyceride homeostasis	high-density lipoprotein particle|very-low-density lipoprotein particle	lipid transporter activity			breast(1)|endometrium(1)|lung(2)	4	Lung NSC(12;0.00858)|all_lung(12;0.0197)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00334)|Epithelial(262;0.178)		AGCACCTTCCGGGGCTTCATGC	0.594000														284			6		0	0	0.004672	0	0
CRB1	23418	broad.mit.edu	37	1	197298036	197298036	+	Silent	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr1:197298036G>A	uc001gtz.3	+	1	764	c.555G>A	c.(553-555)ttG>ttA	p.L185L	CRB1_uc010poz.2_Silent_p.L116L|CRB1_uc001gty.2_Silent_p.L185L|CRB1_uc009wza.3_Silent_p.L185L|CRB1_uc010ppa.2_Non-coding_Transcript|CRB1_uc010ppb.2_Silent_p.L185L	NM_201253	NP_957705	P82279	CRUM1_HUMAN	Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA.	185					cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						ACTGCGACTTGGAAGTGGATG	0.483000														28			12		0	0	0.000978	0	0
ITPKB	3707	broad.mit.edu	37	1	226827257	226827257	+	Splice_Site	SNP	C	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr1:226827257C>A	uc010pvo.2	-	6	2893	c.2553_splice	c.e6+1	p.L851_splice		NM_002221	NP_002212	P27987	IP3KB_HUMAN	Homo sapiens inositol-trisphosphate 3-kinase B (ITPKB), mRNA.	851							ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30		Prostate(94;0.0773)				GCCAGACTCACCAGGATGTTA	0.582000														61			12		1.05317e-09	2.04675e-09	0.002450	1	0
RBKS	64080	broad.mit.edu	37	2	28055587	28055587	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr2:28055587G>A	uc002rlo.1	-	5	583	c.572C>T	c.(571-573)aCc>aTc	p.T191I	RBKS_uc010ezi.1_Missense_Mutation_p.T124I|RBKS_uc010ymg.2_Missense_Mutation_p.T191I	NM_022128	NP_071411	Q9H477	RBSK_HUMAN	Homo sapiens ribokinase (RBKS), mRNA.	191					D-ribose metabolic process		ATP binding|ribokinase activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	7	Acute lymphoblastic leukemia(172;0.155)					ATCTGAGAGGGTGTAGAACTG	0.413000														64			27		0	0	0.007291	0	0
PPP6C	5537	broad.mit.edu	37	9	127923119	127923119	+	Splice_Site	SNP	C	G	G			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr9:127923119C>G	uc010mwv.3	-	4	569	c.348_splice	c.e4+1	p.M116_splice	PPP6C_uc004bpg.4_Splice_Site_p.M79_splice|PPP6C_uc010mww.3_Intron|PPP6C_uc011lzr.2_Intron	NM_001123355	NP_001116827	O00743	PPP6_HUMAN	Homo sapiens protein phosphatase 6, catalytic subunit (PPP6C), transcript variant 1, mRNA.	79					G1/S transition of mitotic cell cycle|protein dephosphorylation	cytosol	metal ion binding|protein binding|protein serine/threonine phosphatase activity			NS(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(3)	14						TGTTTACATACCATAAATATG	0.328000														13			16		0	0	0.004990	0	0
RORC	6097	broad.mit.edu	37	1	151787564	151787564	+	Silent	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr1:151787564C>T	uc001ezh.3	-	4	744	c.636G>A	c.(634-636)gaG>gaA	p.E212E	RORC_uc001ezg.3_Silent_p.E191E|RORC_uc010pdo.2_Silent_p.E266E|RORC_uc010pdp.2_Silent_p.E212E	NM_005060	NP_005051	P51449	RORG_HUMAN	Homo sapiens RAR-related orphan receptor C (RORC), transcript variant 1, mRNA.	212	Hinge (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)			TCTCTCTGCCCTCAGCCTTGC	0.592000														24			9		0	0	0.000673	0	0
SPRR4	163778	broad.mit.edu	37	1	152944543	152944543	+	Silent	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr1:152944543C>T	uc001fav.1	+	1	240	c.177C>T	c.(175-177)acC>acT	p.T59T	SPRR4_uc021ozm.1_Silent_p.T59T	NM_173080	NP_775103	Q96PI1	SPRR4_HUMAN	Homo sapiens small proline-rich protein 4 (SPRR4), mRNA.	59	Gln-rich.				keratinization|peptide cross-linking	cell cortex				lung(1)|prostate(1)	2	Lung NSC(65;1.46e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CGAAAGGCACCATCATTCCAG	0.527000														42			21		0	0	0.001523	0	0
TTN	7273	broad.mit.edu	37	2	179639084	179639084	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr2:179639084C>T	uc021vsy.1	-	29	7132	c.6907G>A	c.(6907-6909)Gat>Aat	p.D2303N	TTN_uc021vsz.1_Missense_Mutation_p.D2257N|TTN_uc021vta.1_Missense_Mutation_p.D2257N|TTN_uc021vtb.1_Missense_Mutation_p.D2257N|TTN_uc002unb.2_Missense_Mutation_p.D2303N|AK123298_uc002unc.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	2303	Ig-like 12.						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)			AGCTCCACATCATTATGATAC	0.398000														65			17		0	0	0.006122	0	0
C10orf71	118461	broad.mit.edu	37	10	50530672	50530672	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr10:50530672G>A	uc021pqb.1	+	0	82	c.82G>A	c.(82-84)Gag>Aag	p.E28K	C10orf71_uc021pqa.1_Missense_Mutation_p.E27K|C10orf71_uc021pqc.1_Missense_Mutation_p.E28K	NM_001135196	NP_001128668	Q711Q0	CJ071_HUMAN	Homo sapiens chromosome 10 open reading frame 71 (C10orf71), transcript variant 1, mRNA.	28										endometrium(1)	1						TGCAGACAGGGAGGTGAGCAG	0.552000														9			6		0	0	0.001984	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140855819	140855819	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr5:140855819G>A	uc003lkv.2	+	0	251	c.136G>A	c.(136-138)Gct>Act	p.A46T	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_uc003lku.1_Missense_Mutation_p.A46T|PCDHGC5_uc003lkw.2_Intron	NM_002588	NP_002579	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily C, 3 (PCDHGC3), transcript variant 1, mRNA.	44	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)			GAAGGGTTTCGCTGTGGGCAA	0.562000														87			7		0	0	0.003080	0	0
AMBRA1	55626	broad.mit.edu	37	11	46564927	46564927	+	Missense_Mutation	SNP	G	A	A	rs139294318	byFrequency	TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr11:46564927G>A	uc001ncv.2	-	6	954	c.640C>T	c.(640-642)Ccc>Tcc	p.P214S	AMBRA1_uc010rgt.1_5'Flank|AMBRA1_uc009ylc.1_Missense_Mutation_p.P214S|AMBRA1_uc001ncu.1_Missense_Mutation_p.P214S|AMBRA1_uc010rgu.1_Missense_Mutation_p.P214S|AMBRA1_uc001ncw.2_Missense_Mutation_p.P214S|AMBRA1_uc001ncx.2_Missense_Mutation_p.P214S	NM_017749	NP_060219	Q9C0C7	AMRA1_HUMAN	Homo sapiens autophagy/beclin-1 regulator 1 (AMBRA1), mRNA.	214					autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		CCATCTATGGGGATCTCTGGT	0.527000														45			15		0	0	0.004990	0	0
AGBL4	84871	broad.mit.edu	37	1	49100233	49100233	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr1:49100233G>A	uc010omx.1	-	8	1077	c.919C>T	c.(919-921)Ccc>Tcc	p.P307S	AGBL4_uc001cru.2_Missense_Mutation_p.P295S|AGBL4_uc010omw.1_Missense_Mutation_p.P28S|AGBL4_uc010omy.1_Missense_Mutation_p.P118S|AGBL4_uc001crv.1_Missense_Mutation_p.P148S	NM_032785	NP_116174	Q5VU57	CBPC6_HUMAN	Homo sapiens ATP/GTP binding protein-like 4 (AGBL4), mRNA.	295					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)	15				Colorectal(2;0.00349)|COAD - Colon adenocarcinoma(2;0.0037)		CATGGAGAGGGATCCAGCCAG	0.488000														8			5		0	0	0.001168	0	0
DDX3X	1654	broad.mit.edu	37	X	41198307	41198307	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chrX:41198307C>T	uc004dfe.3	+	2	977	c.122C>T	c.(121-123)cCt>cTt	p.P41L	DDX3X_uc010nhf.1_Intron|DDX3X_uc011mks.2_Missense_Mutation_p.P41L|DDX3X_uc004dff.3_Missense_Mutation_p.P41L|DDX3X_uc011mkq.2_Intron|DDX3X_uc011mkr.2_Missense_Mutation_p.P41L|DDX3X_uc004dfg.3_Non-coding_Transcript|DDX3X_uc011mkt.1_Non-coding_Transcript	NM_001356	NP_001347	O00571	DDX3X_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, X-linked (DDX3X), transcript variant 1, mRNA.	41					interspecies interaction between organisms	cytoplasm|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|DNA binding|RNA binding|protein binding			NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						TATATTCCTCCTCATTTAAGG	0.313000										HNSCC(61;0.18)				9			9		0	0	0.000673	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140778884	140778884	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr5:140778884C>T	uc003lkf.2	+	0	1190	c.1190C>T	c.(1189-1191)tCg>tTg	p.S397L	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_Missense_Mutation_p.S397L	NM_018925	NP_061748	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 5 (PCDHGB5), transcript variant 1, mRNA.	403	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)			TCCAAAAATTCGTATAAGTTG	0.458000														29			14		0	0	0.002450	0	0
NUAK2	81788	broad.mit.edu	37	1	205272618	205272618	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr1:205272618G>A	uc001hce.3	-	6	1974	c.1847C>T	c.(1846-1848)aCc>aTc	p.T616I		NM_030952	NP_112214	Q9H093	NUAK2_HUMAN	Homo sapiens NUAK family, SNF1-like kinase, 2 (NUAK2), mRNA.	616					actin cytoskeleton organization|apoptosis|cellular response to glucose starvation|negative regulation of apoptosis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(3)|kidney(3)|large_intestine(4)|lung(4)|ovary(3)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23	Breast(84;0.186)		BRCA - Breast invasive adenocarcinoma(75;0.117)			CTGTCGGTAGGTCGCTGTCAC	0.642000														27			25		0	0	0.003330	0	0
CFH	3075	broad.mit.edu	37	1	196871680	196871680	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr1:196871680C>T	uc001gtp.3	+	1	328	c.191C>T	c.(190-192)tCa>tTa	p.S64L	CFH_uc021pgt.1_Intron|CFH_uc009wyy.3_Missense_Mutation_p.S63L|CFH_uc001gto.3_Missense_Mutation_p.S64L	NM_001201550	NP_001188479	P08603	CFAH_HUMAN	Homo sapiens complement factor H-related 4 (CFHR4), transcript variant 1, mRNA.	365	Sushi 1.				complement activation, alternative pathway	extracellular space		p.S64L(1)|p.S63L(1)		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						GTGACTCCTTCAGGAAGTTAC	0.393000														76			41		0	0	0.007835	0	0
UNC13C	440279	broad.mit.edu	37	15	54306718	54306718	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr15:54306718G>A	uc021smr.1	+	0	1618	c.1618G>A	c.(1618-1620)Gat>Aat	p.D540N	UNC13C_uc021sms.1_Missense_Mutation_p.D540N	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	540					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		CTCACAGAGTGATTTTTTCAC	0.368000														15			17		0	0	0.006122	0	0
DGUOK	1716	broad.mit.edu	37	2	74177814	74177814	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr2:74177814C>G	uc002sjx.3	+	3	631	c.546C>G	c.(544-546)agC>agG	p.S182R	DGUOK_uc002sjy.3_Intron|DGUOK_uc002sjz.3_Intron	NM_080916	NP_550438	Q16854	DGUOK_HUMAN	Homo sapiens deoxyguanosine kinase (DGUOK), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	182					guanosine metabolic process|purine base metabolic process|purine deoxyribonucleoside metabolic process|purine-containing compound salvage	mitochondrial matrix	ATP binding|deoxyguanosine kinase activity|phosphotransferase activity, alcohol group as acceptor			endometrium(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	8						AGTTTGCCAGCCGGATCACAT	0.443000														143			61		0	0	0.003610	0	0
KIAA1804	84451	broad.mit.edu	37	1	233511808	233511808	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr1:233511808G>A	uc001hvt.4	+	6	2083	c.1822G>A	c.(1822-1824)Gaa>Aaa	p.E608K	KIAA1804_uc001hvu.4_Missense_Mutation_p.E54K	NM_032435	NP_115811	Q5TCX8	M3KL4_HUMAN	Homo sapiens mixed lineage kinase 4 (KIAA1804), mRNA.	608					activation of JUN kinase activity|protein autophosphorylation		ATP binding|MAP kinase kinase kinase activity|protein homodimerization activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|large_intestine(18)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(4)	52		all_cancers(173;0.000405)|all_epithelial(177;0.0345)|Prostate(94;0.122)				AGATTGCAAAGAAAGGTACGT	0.348000														26			11		0	0	0.002450	0	0
AKT2	208	broad.mit.edu	37	19	40740978	40740978	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr19:40740978G>A	uc002onf.3	-	12	1639	c.1340C>T	c.(1339-1341)tCc>tTc	p.S447F	AKT2_uc010egs.3_Missense_Mutation_p.S404F|AKT2_uc010xvj.2_Missense_Mutation_p.S385F|AKT2_uc010egt.3_Missense_Mutation_p.S385F|AKT2_uc010egu.2_Missense_Mutation_p.S385F|AKT2_uc002one.3_Missense_Mutation_p.S343F	NM_001626	NP_001229957	P31751	AKT2_HUMAN	Homo sapiens v-akt murine thymoma viral oncogene homolog 2 (AKT2), transcript variant 1, mRNA.	447	AGC-kinase C-terminal.				insulin receptor signaling pathway|negative regulation of plasma membrane long-chain fatty acid transport|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process	cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	p.Q446H(1)		breast(1)|cervix(1)|kidney(3)|large_intestine(9)|lung(10)|prostate(2)|skin(1)	27			Lung(22;0.000499)			GATTGTGATGGACTGGGCGGT	0.602000			A		"""ovarian, pancreatic """									127			56		0	0	0.003610	0	0
CPN2	1370	broad.mit.edu	37	3	194062946	194062946	+	Silent	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr3:194062946C>T	uc003fts.3	-	1	576	c.486G>A	c.(484-486)agG>agA	p.R162R	CPN2_uc021xix.1_Silent_p.R162R	NM_001080513	NP_001073982	P22792	CPN2_HUMAN	Homo sapiens carboxypeptidase N, polypeptide 2 (CPN2), mRNA.	162					protein stabilization	extracellular region	enzyme regulator activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1)	27	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.65e-05)		GGAAGAGCCTCCTGGGCAGGG	0.642000														33			20		0	0	0.007413	0	0
SIN3B	23309	broad.mit.edu	37	19	16962281	16962282	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr19:16962281_16962282CC>TT	uc002ney.2	+	5	808_809	c.785_786CC>TT	c.(784-786)acc>aTT	p.T262I	SIN3B_uc002new.3_Missense_Mutation_p.T262I|SIN3B_uc002nez.2_Missense_Mutation_p.T262I	NM_015260	NP_056075	O75182	SIN3B_HUMAN	Homo sapiens SIN3 transcription regulator homolog B (yeast) (SIN3B), mRNA.	262					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	protein binding			endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						CACGACAAGACCCCGGAGCACA	0.653000														52			23		0	0	0.004672	0	0
KIAA0913	23053	broad.mit.edu	37	10	75552441	75552442	+	Missense_Mutation	DNP	CC	TG	TG			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr10:75552441_75552442CC>TG	uc001jvj.3	+	9	2399_2400	c.2144_2145CC>TG	c.(2143-2145)acc>aTG	p.T715M	KIAA0913_uc001jve.3_Missense_Mutation_p.T715M|KIAA0913_uc009xrl.3_Missense_Mutation_p.T715M|KIAA0913_uc001jvf.3_Missense_Mutation_p.T715M|KIAA0913_uc001jvh.3_Non-coding_Transcript|KIAA0913_uc001jvi.3_Missense_Mutation_p.T138M|KIAA0913_uc010qkr.2_Missense_Mutation_p.T138M	NM_001242488	NP_001229417	A7E2V4	K0913_HUMAN	Homo sapiens KIAA0913 (KIAA0913), transcript variant 3, mRNA.	715							zinc ion binding			breast(3)|cervix(1)|endometrium(6)|kidney(3)|lung(6)	19	Prostate(51;0.0112)					CTTCCCAAAACCAAAGAGGCAG	0.604000														35			5		0	0	0.004672	0	0
MAPK4	5596	broad.mit.edu	37	18	48190772	48190772	+	Silent	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr18:48190772G>A	uc002lev.3	+	1	1444	c.444G>A	c.(442-444)agG>agA	p.R148R	MAPK4_uc010xdm.2_Intron|MAPK4_uc010doz.3_Silent_p.R148R	NM_002747	NP_002738	P31152	MK04_HUMAN	Homo sapiens mitogen-activated protein kinase 4 (MAPK4), mRNA.	148	Protein kinase.				cell cycle		ATP binding|MAP kinase activity			lung(4)|skin(3)|upper_aerodigestive_tract(1)	8		Colorectal(6;0.0297)		Colorectal(21;0.156)		TGCTGCACAGGGACCTGAAGC	0.572000														30			9		0	0	0.006214	0	0
CHRM4	1132	broad.mit.edu	37	11	46406905	46406905	+	Silent	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr11:46406905C>T	uc001nct.1	-	0	1203	c.1203G>A	c.(1201-1203)acG>acA	p.T401T		NM_000741	NP_000732	P08173	ACM4_HUMAN	Homo sapiens cholinergic receptor, muscarinic 4 (CHRM4), mRNA.	401					cell proliferation	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity	p.T401T(2)		breast(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	20				GBM - Glioblastoma multiforme(35;0.0254)|Lung(87;0.14)	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)|Tropicamide(DB00809)	TGGCAAAGATCGTTCGTGTCA	0.617000														18			10		0	0	0.006214	0	0
TCEB3C	162699	broad.mit.edu	37	18	44555341	44555341	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr18:44555341C>T	uc010xdb.2	-	0	1109	c.873G>A	c.(871-873)atG>atA	p.M291I	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.	291					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						CCTGGGAGGTCATGGCCTCAA	0.617000														270			10		0	0	0.001855	0	0
MERTK	10461	broad.mit.edu	37	2	112785928	112785928	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr2:112785928G>A	uc002thk.1	+	19	2609	c.2487_splice	c.e19-1	p.L829_splice	MERTK_uc002thl.1_Splice_Site_p.L653_splice	NM_006343	NP_006334	Q12866	MERTK_HUMAN	Homo sapiens c-mer proto-oncogene tyrosine kinase (MERTK), mRNA.	829	Protein kinase.				cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						TAACTTTCAGGTATGAAATAA	0.408000														30			18		0	0	0.006122	0	0
CSTA	1475	broad.mit.edu	37	3	122056407	122056407	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr3:122056407T>C	uc003eex.3	+	1	209	c.80T>C	c.(79-81)cTt>cCt	p.L27P		NM_005213	NP_005204	P01040	CYTA_HUMAN	Homo sapiens cystatin A (stefin A) (CSTA), mRNA.	27					keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|nucleus	cysteine-type endopeptidase inhibitor activity|protease binding|protein binding, bridging|structural molecule activity	p.Q26Q(1)		large_intestine(2)|lung(2)	4				GBM - Glioblastoma multiforme(114;0.155)		AAACCACAGCTTGAAGAAAAA	0.358000														74			29		0	0	0.005443	0	0
ADAM2	2515	broad.mit.edu	37	8	39626920	39626920	+	Silent	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr8:39626920C>T	uc003xnj.3	-	11	1278	c.1203G>A	c.(1201-1203)ggG>ggA	p.G401G	ADAM2_uc003xnk.3_Silent_p.G382G|ADAM2_uc011lck.2_Silent_p.G401G|ADAM2_uc003xnl.3_Silent_p.G275G	NM_001464	NP_001455	Q99965	ADAM2_HUMAN	Homo sapiens ADAM metallopeptidase domain 2 (ADAM2), mRNA.	401	Disintegrin.				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		CCTGTTCAGTCCCACAGTCAC	0.428000														30			18		0	0	0.003954	0	0
CCKAR	886	broad.mit.edu	37	4	26483390	26483391	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr4:26483390_26483391GG>AA	uc003gse.1	-	4	1309_1310	c.1156_1157CC>TT	c.(1156-1158)ccc>TTc	p.P386F		NM_000730	NP_000721	P32238	CCKAR_HUMAN	Homo sapiens cholecystokinin A receptor (CCKAR), mRNA.	386					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient	integral to plasma membrane	cholecystokinin receptor activity			NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29		Breast(46;0.0503)			Ceruletide(DB00403)	GGGGCAGCAGGGGAAGGTGGCC	0.619000														69			18		0	0	0.004672	0	0
TIMD4	91937	broad.mit.edu	37	5	156381564	156381564	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr5:156381564C>A	uc003lwh.2	-	1	319	c.262G>T	c.(262-264)Ggg>Tgg	p.G88W	TIMD4_uc010jii.2_Missense_Mutation_p.G88W	NM_138379	NP_612388	Q96H15	TIMD4_HUMAN	Homo sapiens T-cell immunoglobulin and mucin domain containing 4 (TIMD4), transcript variant 1, mRNA.	88	Ig-like V-type.					integral to membrane				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GGGATAGTCCCCTGAAGTCTA	0.532000														412			9		0.00448238	0.00863165	0.004482	1	0
PPRC1	23082	broad.mit.edu	37	10	103907120	103907120	+	Silent	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr10:103907120C>T	uc001kum.3	+	8	4410	c.4371C>T	c.(4369-4371)tcC>tcT	p.S1457S	PPRC1_uc001kun.3_Silent_p.S1337S|PPRC1_uc010qqj.2_Intron|PPRC1_uc009xxa.3_Intron	NM_015062	NP_055877	Q5VV67	PPRC1_HUMAN	Homo sapiens peroxisome proliferator-activated receptor gamma, coactivator-related 1 (PPRC1), mRNA.	1457	Arg-rich.|Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	RNA binding|nucleotide binding			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		GGTCCAGGTCCCTCTCCCCCC	0.547000														28			20		0	0	0.002299	0	0
SLC22A5	6584	broad.mit.edu	37	5	131728257	131728258	+	Missense_Mutation	DNP	CC	TT	TT	rs60376624		TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr5:131728257_131728258CC>TT	uc003kwx.4	+	8	1736_1737	c.1472_1473CC>TT	c.(1471-1473)tcc>tTT	p.S491F	SLC22A5_uc003kww.4_Missense_Mutation_p.S467F|SLC22A5_uc010jdr.1_Missense_Mutation_p.S87F	NM_003060	NP_003051	O76082	S22A5_HUMAN	Homo sapiens solute carrier family 22 (organic cation/carnitine transporter), member 5 (SLC22A5), mRNA.	467					positive regulation of intestinal epithelial structure maintenance|quorum sensing involved in interaction with host|sodium ion transport|sodium-dependent organic cation transport	apical plasma membrane|brush border membrane|integral to membrane	ATP binding|PDZ domain binding|carnitine transporter activity|symporter activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)	8		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Carnitine(DB00583)	GGAGTCAGCTCCACAGCATCCC	0.550000														32			24		0	0	0.004672	0	0
LRRIQ1	84125	broad.mit.edu	37	12	85450857	85450857	+	Silent	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr12:85450857G>A	uc001tac.3	+	7	2397	c.2286G>A	c.(2284-2286)aaG>aaA	p.K762K	LRRIQ1_uc021rbo.1_Silent_p.K640K|LRRIQ1_uc001taa.1_Silent_p.K737K	NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 1 (LRRIQ1), mRNA.	762										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)		ATCAACAAAAGAAAATTGTTA	0.378000														136			69		0	0	0.003610	0	0
BRWD3	254065	broad.mit.edu	37	X	79985494	79985494	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chrX:79985494C>T	uc004edt.3	-	12	1416	c.1153G>A	c.(1153-1155)Gat>Aat	p.D385N	BRWD3_uc004edp.3_Missense_Mutation_p.D214N|BRWD3_uc004edq.3_5'UTR|BRWD3_uc010nmj.2_5'UTR|BRWD3_uc004edr.3_Missense_Mutation_p.D55N|BRWD3_uc004eds.3_5'UTR|BRWD3_uc004edo.3_5'UTR|BRWD3_uc004edu.3_Missense_Mutation_p.D55N|BRWD3_uc004edv.3_5'UTR|BRWD3_uc004edw.3_5'UTR|BRWD3_uc004edx.3_5'UTR|BRWD3_uc004edy.3_5'UTR|BRWD3_uc004edz.3_Missense_Mutation_p.D55N|BRWD3_uc004eea.3_Missense_Mutation_p.D55N|BRWD3_uc004eeb.3_5'UTR	NM_153252	NP_694984	Q6RI45	BRWD3_HUMAN	Homo sapiens bromodomain and WD repeat domain containing 3 (BRWD3), mRNA.	385										breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						GCCGTTCCATCTCGACTTCCA	0.303000														8			11		0	0	0.000978	0	0
ETV7	51513	broad.mit.edu	37	6	36339258	36339258	+	Silent	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr6:36339258G>A	uc003omb.3	-	4	772	c.513C>T	c.(511-513)ttC>ttT	p.F171F	ETV7_uc003olz.2_Silent_p.F171F|ETV7_uc003oma.2_Silent_p.F116F|ETV7_uc003omc.3_Silent_p.F116F|ETV7_uc010jwj.3_Silent_p.F112F|ETV7_uc010jwi.3_Intron|ETV7_uc010jwh.3_Silent_p.F90F|ETV7_uc011dtl.2_Silent_p.F20F	NM_016135	NP_001193970	Q9Y603	ETV7_HUMAN	Homo sapiens ets variant 7 (ETV7), transcript variant 1, mRNA.	171					organ morphogenesis|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(4)	10						CCAGGTGGCCGAAGTTGCTGG	0.637000														17			6		0	0	0.001984	0	0
SSRP1	6749	broad.mit.edu	37	11	57099698	57099698	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr11:57099698A>G	uc001njt.3	-	7	1196	c.929T>C	c.(928-930)cTc>cCc	p.L310P		NM_003146	NP_003137	Q08945	SSRP1_HUMAN	Homo sapiens structure specific recognition protein 1 (SSRP1), mRNA.	310					DNA repair|DNA replication|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|cytoplasm|nucleoplasm	DNA binding|protein binding	p.S309S(1)		breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(4)	23						CATCTCATAGAGGGATCCTGA	0.532000														57			25		0	0	0.004656	0	0
PLA2G3	50487	broad.mit.edu	37	22	31533697	31533697	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr22:31533697C>T	uc003aka.3	-	4	1195	c.1066_splice	c.e4+1	p.G356_splice		NM_015715	NP_056530	Q9NZ20	PA2G3_HUMAN	Homo sapiens phospholipase A2, group III (PLA2G3), mRNA.	356					cilium morphogenesis|lipid catabolic process|phospholipid metabolic process	centriole|extracellular space|plasma membrane	calcium ion binding|calcium-dependent phospholipase A2 activity			large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	18						TGAGCTCACCCTGAGGTTTTA	0.592000														85			37		0	0	0.005524	0	0
SSH3	54961	broad.mit.edu	37	11	67077252	67077252	+	Missense_Mutation	SNP	C	T	T	rs149176266		TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr11:67077252C>T	uc001okj.3	+	11	1400	c.1222C>T	c.(1222-1224)Cac>Tac	p.H408Y	SSH3_uc001okk.3_Non-coding_Transcript|SSH3_uc001okl.3_Missense_Mutation_p.H262Y	NM_017857	NP_060327	Q8TE77	SSH3_HUMAN	Homo sapiens slingshot homolog 3 (Drosophila) (SSH3), mRNA.	408	Tyrosine-protein phosphatase.				regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton|nucleus	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			ACAGGGCACCCACGTGCTGGT	0.647000														35			15		0	0	0.004990	0	0
CNTNAP2	26047	broad.mit.edu	37	7	148112693	148112693	+	Silent	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr7:148112693G>A	uc003weu.2	+	23	4497	c.3981G>A	c.(3979-3981)aaG>aaA	p.K1327K	CNTNAP2_uc003wev.2_Silent_p.K104K	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	1327					behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			AAAGCAAAAAGGAATGGCTCA	0.522000										HNSCC(39;0.1)				31			19		0	0	0.007413	0	0
ZNF324B	388569	broad.mit.edu	37	19	58967114	58967114	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr19:58967114A>G	uc002qsv.1	+	3	910	c.803A>G	c.(802-804)aAg>aGg	p.K268R	ZNF324B_uc002qsu.1_Missense_Mutation_p.K258R|ZNF324B_uc010euq.1_Missense_Mutation_p.K268R	NM_207395	NP_997278	Q6AW86	Z324B_HUMAN	Homo sapiens zinc finger protein 324B (ZNF324B), mRNA.	268					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)		GTGTTCGTGAAGAGCTCCGAC	0.652000														31			8		0	0	0.000673	0	0
LOC440518	440518	broad.mit.edu	37	19	22785429	22785429	+	RNA	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr19:22785429G>A	uc002nqu.4	+	7		c.1518G>A								Homo sapiens golgin A2 pseudogene (LOC440518), non-coding RNA.																		GCTGATGCAGGAAAAGGTGGA	0.582000														41			15		0	0	0.002450	0	0
PKP1	5317	broad.mit.edu	37	1	201252992	201252992	+	Silent	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr1:201252992C>T	uc001gwd.3	+	0	413	c.162C>T	c.(160-162)tcC>tcT	p.S54S	PKP1_uc001gwe.3_Silent_p.S54S|PKP1_uc009wzm.3_5'UTR	NM_000299	NP_000290	Q13835	PKP1_HUMAN	Homo sapiens plakophilin 1 (ectodermal dysplasia/skin fragility syndrome) (PKP1), transcript variant 1b, mRNA.	54					cell adhesion|cellular component disassembly involved in apoptosis|multicellular organismal development	desmosome|intermediate filament|nucleus	intermediate filament binding|signal transducer activity|structural constituent of epidermis			NS(2)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(5)|prostate(1)	22						GGCAGAAGTCCAAGTCTTCCC	0.627000														57			12		0	0	0.001368	0	0
GRM8	2918	broad.mit.edu	37	7	126173891	126173891	+	Silent	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr7:126173891G>A	uc003vlr.2	-	7	1856	c.1545C>T	c.(1543-1545)gtC>gtT	p.V515V	GRM8_uc003vls.2_Non-coding_Transcript|GRM8_uc011kof.1_Non-coding_Transcript|GRM8_uc003vlt.2_Silent_p.V515V|GRM8_uc010lkz.1_Non-coding_Transcript	NM_000845	NP_000836	O00222	GRM8_HUMAN	Homo sapiens glutamate receptor, metabotropic 8 (GRM8), transcript variant 1, mRNA.	515					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)	GCAGGCTGCAGACAGACGCCG	0.502000										HNSCC(24;0.065)				37			23		0	0	0.007291	0	0
ANO10	55129	broad.mit.edu	37	3	43618707	43618707	+	Silent	SNP	T	G	G			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr3:43618707T>G	uc003cmv.3	-	5	810	c.639A>C	c.(637-639)ggA>ggC	p.G213G	ANO10_uc011azs.2_Silent_p.G213G|ANO10_uc003cmw.3_Silent_p.G147G|ANO10_uc010hil.3_Intron|ANO10_uc011azt.2_Silent_p.G102G	NM_018075	NP_060545	Q9NW15	ANO10_HUMAN	Homo sapiens anoctamin 10 (ANO10), transcript variant 1, mRNA.	213					cell death	chloride channel complex	chloride channel activity			NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(3)|skin(3)	29						ACTCCAAAAATCCAAAGTACA	0.368000														22			5		0	0	0.001168	0	0
AMFR	267	broad.mit.edu	37	16	56435650	56435650	+	Silent	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr16:56435650G>A	uc002eiy.3	-	7	1285	c.1080C>T	c.(1078-1080)ttC>ttT	p.F360F	AMFR_uc002eix.3_Missense_Mutation_p.S58F	NM_001144	NP_001135	Q9UKV5	AMFR2_HUMAN	Homo sapiens autocrine motility factor receptor (AMFR), mRNA.	360					ER-associated protein catabolic process|endoplasmic reticulum unfolded protein response|protein oligomerization|protein polyubiquitination	integral to endoplasmic reticulum membrane|integral to membrane of membrane fraction	protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17						CCTACTTGTGGAAAAGATGTC	0.557000														61			25		0	0	0.007291	0	0
SPTB	6710	broad.mit.edu	37	14	65234495	65234495	+	Silent	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr14:65234495C>T	uc001xht.3	-	28	6156	c.6105G>A	c.(6103-6105)ggG>ggA	p.G2035G	SPTB_uc001xhr.3_Silent_p.G2035G|SPTB_uc001xhs.3_Silent_p.G2035G|SPTB_uc001xhu.3_Silent_p.G2035G|SPTB_uc010aqi.3_Silent_p.G696G	NM_000347	NP_000338	P11277	SPTB1_HUMAN	Homo sapiens spectrin, beta, erythrocytic (SPTB), transcript variant 2, mRNA.	2035					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)		GTCCAAAGTCCCCGCTGGCCA	0.617000														37			18		0	0	0.001216	0	0
LRTM1	57408	broad.mit.edu	37	3	54958975	54958975	+	Missense_Mutation	SNP	C	T	T	rs141303357	byFrequency	TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr3:54958975C>T	uc003dhl.3	-	1	409	c.275G>A	c.(274-276)gGa>gAa	p.G92E	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.	92						integral to membrane				breast(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(4)	21				KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502)		ATGGAAAGCTCCAGGGGCCAG	0.463000														20			17		0	0	0.004007	0	0
ATF7IP	55729	broad.mit.edu	37	12	14610217	14610217	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr12:14610217C>G	uc001rbw.3	+	7	2304	c.2146C>G	c.(2146-2148)Cct>Gct	p.P716A	ATF7IP_uc010shs.1_Intron|ATF7IP_uc001rbu.3_Missense_Mutation_p.P716A|ATF7IP_uc001rbv.1_Missense_Mutation_p.P715A|ATF7IP_uc001rbx.3_Missense_Mutation_p.P715A|ATF7IP_uc010sht.1_Intron|ATF7IP_uc001rby.4_Missense_Mutation_p.P716A|ATF7IP_uc001rca.3_Missense_Mutation_p.P716A	NM_018179	NP_060649	Q6VMQ6	MCAF1_HUMAN	Homo sapiens activating transcription factor 7 interacting protein (ATF7IP), mRNA.	716	Interaction with SETDB1.				DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding			cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						CTTTCAAACTCCTGTGAATAC	0.353000														18			5		0	0	0.001168	0	0
NIM1	167359	broad.mit.edu	37	5	43280373	43280373	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr5:43280373G>A	uc003jno.3	+	3	1734	c.853G>A	c.(853-855)Gag>Aag	p.E285K		NM_153361	NP_699192	Q8IY84	NIM1_HUMAN	Homo sapiens serine/threonine-protein kinase NIM1 (NIM1), mRNA.	285	Protein kinase.						ATP binding|magnesium ion binding|protein serine/threonine kinase activity										GAGCATCCTCGAGGGCACATA	0.567000														19			11		0	0	0.000978	0	0
STAB2	55576	broad.mit.edu	37	12	104056647	104056647	+	Silent	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr12:104056647G>A	uc001tjw.3	+	17	2079	c.1893G>A	c.(1891-1893)gtG>gtA	p.V631V		NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	Homo sapiens stabilin 2 (STAB2), mRNA.	631	FAS1 2.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						CAAATGATGTGGCAATGGAAG	0.453000														39			31		0	0	0.001512	0	0
TRIM51	84767	broad.mit.edu	37	11	55655529	55655529	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr11:55655529G>A	uc010rip.2	+	3	621	c.529G>A	c.(529-531)Gaa>Aaa	p.E177K	TRIM51_uc010riq.2_Missense_Mutation_p.E34K	NM_032681	NP_116070	Q9BSJ1	SPRY5_HUMAN	Homo sapiens SPRY domain containing 5 (SPRYD5), mRNA.	177						intracellular	zinc ion binding										TTTAAGGATAGAAGCAATCAG	0.388000														15			11		0	0	0.001368	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140768843	140768843	+	Silent	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr5:140768843G>A	uc003lkc.2	+	0	1392	c.1392G>A	c.(1390-1392)ccG>ccA	p.P464P	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_5'UTR	NM_003736	NP_003727	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 4 (PCDHGB4), transcript variant 1, mRNA.	468	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)			AGAACAACCCGCCTGGAGCCT	0.552000														65			30		0	0	0.001512	0	0
PAPPA	5069	broad.mit.edu	37	9	119158841	119158841	+	Silent	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr9:119158841C>T	uc004bjn.3	+	21	5211	c.4830C>T	c.(4828-4830)gaC>gaT	p.D1610D	PAPPA_uc011lxq.2_Silent_p.D985D	NM_002581	NP_002572	Q13219	PAPP1_HUMAN	Homo sapiens pregnancy-associated plasma protein A, pappalysin 1 (PAPPA), mRNA.	1610					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						CTTGTCGGGACCCCCAGGCCC	0.517000														40			25		0	0	0.005443	0	0
ZMIZ1	57178	broad.mit.edu	37	10	81070875	81070875	+	Silent	SNP	C	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr10:81070875C>A	uc001kaf.2	+	23	3602	c.3030C>A	c.(3028-3030)ccC>ccA	p.P1010P	ZMIZ1_uc001kag.2_Silent_p.P886P|ZMIZ1_uc010qlq.1_Intron	NM_020338	NP_065071	Q9ULJ6	ZMIZ1_HUMAN	Homo sapiens zinc finger, MIZ-type containing 1 (ZMIZ1), mRNA.	1010					transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			CCTTTAACCCCTCCTCAGCCT	0.672000														170			7		0.00307968	0.00593823	0.003080	1	0
KLRC2	3822	broad.mit.edu	37	12	10587979	10587979	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr12:10587979G>A	uc001qyh.3	-	1	225	c.218C>T	c.(217-219)gCc>gTc	p.A73V	KLRC2_uc010she.1_Missense_Mutation_p.A73V|KLRC2_uc001qyk.2_Missense_Mutation_p.A73V	NM_002261	NP_002252	P26717	NKG2C_HUMAN	Homo sapiens killer cell lectin-like receptor subfamily C, member 3 (KLRC3), transcript variant 1, mRNA.	73					cellular defense response	integral to plasma membrane	sugar binding|transmembrane receptor activity			kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11						TAGGACCTCGGCAGTGAGCTT	0.428000														244			52		0	0	0.003610	0	0
SEC14L4	284904	broad.mit.edu	37	22	30891621	30891621	+	Silent	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr22:30891621C>T	uc003aid.2	-	3	283	c.183G>A	c.(181-183)gaG>gaA	p.E61E	SEC14L4_uc011akz.1_Silent_p.E61E|SEC14L4_uc003aie.2_Silent_p.E46E|SEC14L4_uc003aif.2_Silent_p.E7E	NM_174977	NP_777637	Q9UDX3	S14L4_HUMAN	Homo sapiens SEC14-like 4 (S. cerevisiae) (SEC14L4), transcript variant 1, mRNA.	61						integral to membrane|intracellular	lipid binding|transporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|pancreas(1)|skin(1)	21					Vitamin E(DB00163)	GCTTCCGGAACTCCATGTGCT	0.602000														70			33		0	0	0.002836	0	0
TTN	7273	broad.mit.edu	37	2	179641514	179641514	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr2:179641514C>T	uc021vsy.1	-	27	5302	c.5077G>A	c.(5077-5079)Gat>Aat	p.D1693N	TTN_uc021vsz.1_Missense_Mutation_p.D1647N|TTN_uc021vta.1_Missense_Mutation_p.D1647N|TTN_uc021vtb.1_Missense_Mutation_p.D1647N|TTN_uc002unb.2_Missense_Mutation_p.D1693N|AK123298_uc002unc.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	1693							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.L1693H(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCATAGAGATCACCTTCTTCC	0.463000														42			17		0	0	0.007413	0	0
PSG3	5671	broad.mit.edu	37	19	43373113	43373113	+	Silent	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr19:43373113G>A	uc002ovd.1	-	3	921	c.783C>T	c.(781-783)acC>acT	p.T261T	PSG3_uc002ouf.3_Intron|PSG3_uc002oug.1_Silent_p.T261T|PSG3_uc002oun.3_Non-coding_Transcript|PSG3_uc002ovc.3_Silent_p.T168T|PSG3_uc002ova.2_Silent_p.T168T|PSG3_uc002ouz.2_Silent_p.T261T|PSG3_uc002ovb.3_Silent_p.T261T	NM_006905	NP_008836	Q16557	PSG3_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 1 (PSG1), transcript variant 1, mRNA.	261	Ig-like C2-type 2.				defense response|female pregnancy	extracellular region				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)				TAGGTTCACAGGTGAAGTTTA	0.478000														104			52		0	0	0.003610	0	0
EFHB	151651	broad.mit.edu	37	3	19947122	19947122	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr3:19947122C>T	uc003cbl.4	-	5	1604	c.1408G>A	c.(1408-1410)Gaa>Aaa	p.E470K	EFHB_uc003cbm.3_Missense_Mutation_p.E340K	NM_144715	NP_653316	Q8N7U6	EFHB_HUMAN	Homo sapiens EF-hand domain family, member B (EFHB), mRNA.	470					signal transduction	proteinaceous extracellular matrix	calcium ion binding			breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1)	26						ATTTGTAGTTCATGGAGCCAA	0.348000														79			39		0	0	0.002222	0	0
OR4N4	283694	broad.mit.edu	37	15	22382691	22382691	+	Silent	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr15:22382691C>T	uc001yuc.1	+	6	1200	c.219C>T	c.(217-219)taC>taT	p.Y73Y	abParts_uc001yuj.2_Intron|OR4N4_uc001yub.1_Non-coding_Transcript|OR4N4_uc010tzv.2_Silent_p.Y73Y	NM_001005241	NP_001005241	Q8N0Y3	OR4N4_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily N, member 4 (OR4N4), mRNA.	73					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		ATGCATCCTACTCCTTCATTG	0.478000														137			31		0	0	0.001951	0	0
PIK3CB	5291	broad.mit.edu	37	3	138402620	138402620	+	Silent	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr3:138402620C>T	uc011bmq.2	-	15	2325	c.2325G>A	c.(2323-2325)aaG>aaA	p.K775K	PIK3CB_uc011bmn.2_Silent_p.K287K|PIK3CB_uc011bmo.2_Silent_p.K221K|PIK3CB_uc011bmp.2_Silent_p.K362K	NM_006219	NP_006210	P42338	PK3CB_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, beta polypeptide (PIK3CB), transcript variant 1, mRNA.	775					G-protein coupled receptor protein signaling pathway|T cell receptor signaling pathway|activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor 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			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						TGTATTTGCACTTTTCAACAC	0.348000														356			141		0	0	0.003610	0	0
LRRC43	254050	broad.mit.edu	37	12	122687914	122687914	+	Silent	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr12:122687914C>T	uc009zxm.3	+	11	1921	c.1896C>T	c.(1894-1896)ccC>ccT	p.P632P	LRRC43_uc001ubw.4_Silent_p.P447P|LRRC43_uc009zxn.3_Silent_p.P393P|B3GNT4_uc001ubx.3_5'Flank|B3GNT4_uc001uby.3_5'Flank	NM_001098519	NP_689972	Q8N309	LRC43_HUMAN	Homo sapiens leucine rich repeat containing 43 (LRRC43), transcript variant 1, mRNA.	632										NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		ACCCTGAGCCCCTGACCGTAG	0.597000														51			43		0	0	0.003610	0	0
TMEM37	140738	broad.mit.edu	37	2	120194547	120194547	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr2:120194547C>T	uc002tly.3	+	1	138	c.104C>T	c.(103-105)gCc>gTc	p.A35V		NM_183240	NP_899063	Q8WXS4	CCGL_HUMAN	Homo sapiens transmembrane protein 37 (TMEM37), mRNA.	35						integral to membrane	calcium channel activity|voltage-gated ion channel activity			breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	11						ACGTGTGTGGCCCTGGCTGTG	0.607000														54			24		0	0	0.003330	0	0
CNBD1	168975	broad.mit.edu	37	8	88249250	88249250	+	Silent	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr8:88249250C>T	uc003ydy.2	+	5	729	c.681C>T	c.(679-681)ttC>ttT	p.F227F		NM_173538	NP_775809	Q8NA66	CNBD1_HUMAN	Homo sapiens cyclic nucleotide binding domain containing 1 (CNBD1), mRNA.	227										breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1)	32						CAGACTCGTTCATATCTCAGA	0.378000														62			34		0	0	0.002836	0	0
SDR42E1	93517	broad.mit.edu	37	16	82032971	82032971	+	Silent	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr16:82032971G>A	uc002fgu.3	-	2	1055	c.927C>T	c.(925-927)ccC>ccT	p.P309P		NM_145168	NP_660151	Q8WUS8	D42E1_HUMAN	Homo sapiens short chain dehydrogenase/reductase family 42E, member 1 (SDR42E1), mRNA.	309					steroid biosynthetic process	integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding			NS(2)|endometrium(1)|lung(4)|skin(3)	10						GAGTGAGGAAGGGCTGGAAGT	0.453000														36			19		0	0	0.002299	0	0
MRPL47	57129	broad.mit.edu	37	3	179316479	179316479	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr3:179316479G>A	uc003fjz.3	-	3	408	c.386C>T	c.(385-387)cCa>cTa	p.P129L	MRPL47_uc003fka.3_Missense_Mutation_p.P19L|MRPL47_uc003fkb.3_Missense_Mutation_p.P109L	NM_020409	NP_817125	Q9HD33	RM47_HUMAN	Homo sapiens mitochondrial ribosomal protein L47 (MRPL47), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	129					translation	mitochondrial ribosome	structural constituent of ribosome			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|stomach(1)	11	all_cancers(143;9.62e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.18)			TAACCGCTCTGGACTTGGCAT	0.433000														85			33		0	0	0.004878	0	0
C10orf88	80007	broad.mit.edu	37	10	124712447	124712447	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr10:124712447G>A	uc001lgw.2	-	1	491	c.266C>T	c.(265-267)tCt>tTt	p.S89F	C10orf88_uc001lgx.2_5'UTR	NM_024942	NP_079218	Q9H8K7	CJ088_HUMAN	Homo sapiens chromosome 10 open reading frame 88 (C10orf88), mRNA.	89										breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)	18		all_neural(114;0.0765)|Lung NSC(174;0.163)|all_lung(145;0.205)		Colorectal(40;0.0686)|COAD - Colon adenocarcinoma(40;0.0735)		AATGCCAATAGAAGCGATTTC	0.443000														34			20		0	0	0.002299	0	0
CTNND2	1501	broad.mit.edu	37	5	11098745	11098745	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr5:11098745G>A	uc003jfa.1	-	14	2724	c.2579C>T	c.(2578-2580)cCa>cTa	p.P860L	CTNND2_uc010itt.2_Missense_Mutation_p.P769L|CTNND2_uc011cmy.1_Missense_Mutation_p.P523L|CTNND2_uc011cmz.1_Missense_Mutation_p.P427L|CTNND2_uc010itu.1_Non-coding_Transcript|CTNND2_uc011cmx.1_Missense_Mutation_p.P427L	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	Homo sapiens catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein) (CTNND2), mRNA.	860					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						CAGCGTGTCTGGATTTGAGCA	0.522000														36			16		0	0	0.006122	0	0
ZNF276	92822	broad.mit.edu	37	16	89789747	89789747	+	Silent	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr16:89789747C>T	uc002fos.4	+	3	733	c.636C>T	c.(634-636)gcC>gcT	p.A212A	C16orf7_uc002fom.1_5'Flank|ZNF276_uc010ciq.3_Missense_Mutation_p.P9L|ZNF276_uc002foq.4_Silent_p.A137A|ZNF276_uc010cir.3_Non-coding_Transcript|ZNF276_uc002for.4_Missense_Mutation_p.P9L|ZNF276_uc010cis.3_5'UTR|ZNF276_uc002fot.4_Non-coding_Transcript|ZNF276_uc010vpm.2_Silent_p.A50A|ZNF276_uc010cit.2_5'UTR	NM_001113525	NP_001106997	Q8N554	ZN276_HUMAN	Homo sapiens zinc finger protein 276 (ZNF276), transcript variant a, mRNA.	212					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)	14		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		GCTGCGGGGCCCTGCCCCACC	0.632000														27			14		0	0	0.001855	0	0
C1orf65	164127	broad.mit.edu	37	1	223568461	223568461	+	Silent	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr1:223568461G>A	uc001hoa.2	+	0	1747	c.1644G>A	c.(1642-1644)ctG>ctA	p.L548L		NM_152610	NP_689823	Q8N715	CA065_HUMAN	Homo sapiens chromosome 1 open reading frame 65 (C1orf65), mRNA.	548										breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3)	29				GBM - Glioblastoma multiforme(131;0.0704)		TCCTGAAACTGAAAGCCGAGA	0.532000														51			22		0	0	0.001882	0	0
SLC8A1	6546	broad.mit.edu	37	2	40657338	40657338	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr2:40657338G>A	uc002rrx.3	-	0	107	c.83C>T	c.(82-84)tCc>tTc	p.S28F	SLC8A1_uc002rry.3_Missense_Mutation_p.S28F|SLC8A1_uc002rsb.2_Missense_Mutation_p.S28F|SLC8A1_uc002rrz.3_Missense_Mutation_p.S28F|SLC8A1_uc002rsa.3_Missense_Mutation_p.S28F|SLC8A1_uc002rsd.4_Missense_Mutation_p.S28F|SLC8A1_uc010fan.1_Missense_Mutation_p.S28F|SLC8A1_uc002rsc.1_Missense_Mutation_p.S28F	NM_021097	NP_066920	P32418	NAC1_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 1 (SLC8A1), transcript variant A, mRNA.	28					cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	GTCCACATGGGAAAATAAGAG	0.403000														35			21		0	0	0.001882	0	0
KCNH5	27133	broad.mit.edu	37	14	63416994	63416994	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr14:63416994C>T	uc001xfx.3	-	6	1277	c.1226G>A	c.(1225-1227)tGg>tAg	p.W409*	KCNH5_uc001xfy.3_Nonsense_Mutation_p.W409*|KCNH5_uc001xfz.1_Nonsense_Mutation_p.W351*|KCNH5_uc001xga.3_Nonsense_Mutation_p.W351*	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 5 (KCNH5), transcript variant 1, mRNA.	409					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)		TCCTCCTTCCCATATCCCAGC	0.458000														47			21		0	0	0.002780	0	0
EPPK1	83481	broad.mit.edu	37	8	144942406	144942406	+	Silent	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr8:144942406G>A	uc003zaa.1	-	0	5029	c.5016C>T	c.(5014-5016)atC>atT	p.I1672I		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	1672						cytoplasm|cytoskeleton	protein binding|structural molecule activity	p.L1671L(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GCTCCCGGACGATGAGGTCCT	0.687000														47			31		0	0	0.002096	0	0
OR5L1	219437	broad.mit.edu	37	11	55579742	55579742	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr11:55579742G>A	uc001nhw.1	+	0	800	c.800G>A	c.(799-801)aGt>aAt	p.S267N		NM_001004738	NP_001004738	Q8NGL2	OR5L1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily L, member 1 (OR5L1), mRNA.	267					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S267I(2)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				TCAGGCAATAGTGGAGATGCT	0.478000														40			21		0	0	0.001523	0	0
MKL2	57496	broad.mit.edu	37	16	14340567	14340567	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr16:14340567G>A	uc010uza.2	+	11	1605	c.1450G>A	c.(1450-1452)Gaa>Aaa	p.E484K	MKL2_uc002dcg.3_Missense_Mutation_p.E484K|MKL2_uc002dcj.3_5'Flank	NM_014048	NP_054767	Q9ULH7	MKL2_HUMAN	Homo sapiens MKL/myocardin-like 2 (MKL2), mRNA.	473					cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		identical protein binding|nucleic acid binding|transcription coactivator activity	p.E484Q(2)		breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TCTCAAGGCAGAATTGCCACC	0.507000														61			18		0	0	0.007413	0	0
SAMD7	344658	broad.mit.edu	37	3	169644379	169644379	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr3:169644379G>A	uc003fgd.3	+	5	596	c.329G>A	c.(328-330)aGa>aAa	p.R110K	SAMD7_uc003fge.3_Missense_Mutation_p.R110K|SAMD7_uc011bpo.2_Missense_Mutation_p.R11K	NM_182610	NP_872416	Q7Z3H4	SAMD7_HUMAN	Homo sapiens sterile alpha motif domain containing 7 (SAMD7), mRNA.	110										NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			CAGCAAAGGAGAATGGAAAAA	0.423000														25			23		0	0	0.006320	0	0
CUL9	23113	broad.mit.edu	37	6	43153772	43153772	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr6:43153772C>T	uc003ouk.3	+	3	905	c.830C>T	c.(829-831)cCa>cTa	p.P277L	CUL9_uc003ouj.1_Missense_Mutation_p.P277L|CUL9_uc003oul.3_Missense_Mutation_p.P277L|CUL9_uc010jyk.3_5'UTR|CUL9_uc003oum.1_5'Flank	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN	Homo sapiens cullin 9 (CUL9), mRNA.	277					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						AATAGCAGTCCAGAGCTGGGA	0.552000														35			15		0	0	0.003163	0	0
GPC5	2262	broad.mit.edu	37	13	93518546	93518546	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr13:93518546G>A	uc010tif.2	+	7	1939	c.1573G>A	c.(1573-1575)Gat>Aat	p.D525N		NM_004466	NP_004457	P78333	GPC5_HUMAN	Homo sapiens glypican 5 (GPC5), mRNA.	525						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				GATGCCAGATGATATGAACTT	0.433000														29			13		0	0	0.003163	0	0
MICAL3	57553	broad.mit.edu	37	22	18304832	18304832	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr22:18304832C>T	uc002zng.4	-	23	3765	c.3412G>A	c.(3412-3414)Gag>Aag	p.E1138K	MICAL3_uc011agl.2_Missense_Mutation_p.E1054K	NM_015241	NP_056056	Q7RTP6	MICA3_HUMAN	Homo sapiens microtubule associated monoxygenase, calponin and LIM domain containing 3 (MICAL3), transcript variant 1, mRNA.	1138	Glu-rich.					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		GGCAGCTTCTCCTCATCTTCC	0.577000														79			23		0	0	0.005443	0	0
ZNF662	389114	broad.mit.edu	37	3	42955929	42955929	+	Missense_Mutation	SNP	G	A	A	rs147863526		TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr3:42955929G>A	uc003cmk.2	+	3	628	c.442G>A	c.(442-444)Gaa>Aaa	p.E148K	ZNF662_uc003cmi.2_Missense_Mutation_p.E122K|ZNF662_uc003cmj.2_Missense_Mutation_p.E14K	NM_001134656	NP_001128128	Q6ZS27	ZN662_HUMAN	Homo sapiens zinc finger protein 662 (ZNF662), transcript variant 2, mRNA.	122					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.217)		TGGATCCCAGGAATTATGGTT	0.438000														21			16		0	0	0.004990	0	0
FRYL	285527	broad.mit.edu	37	4	48545929	48545929	+	Silent	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr4:48545929G>A	uc003gyh.1	-	43	6092	c.5487C>T	c.(5485-5487)tcC>tcT	p.S1829S	FRYL_uc003gyg.1_Silent_p.S525S|FRYL_uc003gyi.1_Silent_p.S717S|FRYL_uc003gyj.1_Silent_p.S124S	NM_015030	NP_055845	O94915	FRYL_HUMAN	Homo sapiens FRY-like (FRYL), mRNA.	1829					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						AAATCTGAAAGGATCTCCCAG	0.453000														26			17		0	0	0.004990	0	0
OR4K15	81127	broad.mit.edu	37	14	20443908	20443908	+	Silent	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr14:20443908C>T	uc010tkx.2	+	0	231	c.231C>T	c.(229-231)tcC>tcT	p.S77S		NM_001005486	NP_001005486	Q8NH41	OR4KF_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 15 (OR4K15), mRNA.	77					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1)	39	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CCTCAGATTCCCGCCTTCACA	0.433000														74			40		0	0	0.002852	0	0
SAMD9L	219285	broad.mit.edu	37	7	92761312	92761312	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr7:92761312C>T	uc003umh.1	-	4	5189	c.3973G>A	c.(3973-3975)Gag>Aag	p.E1325K	SAMD9L_uc003umj.1_Missense_Mutation_p.E1325K|SAMD9L_uc003umi.1_Missense_Mutation_p.E1325K|SAMD9L_uc010lfb.1_Missense_Mutation_p.E1325K|SAMD9L_uc003umk.1_Missense_Mutation_p.E1325K|SAMD9L_uc010lfc.1_Missense_Mutation_p.E1325K|SAMD9L_uc010lfd.1_Missense_Mutation_p.E1325K|SAMD9L_uc022ahh.1_Missense_Mutation_p.E1325K	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	Homo sapiens sterile alpha motif domain containing 9-like (SAMD9L), mRNA.	1325										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)			CAATTCTCCTCCTGGAGTAAT	0.393000														24			20		0	0	0.007413	0	0
USP24	23358	broad.mit.edu	37	1	55545290	55545290	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr1:55545290G>A	uc021onw.1	-	59	7374	c.7121C>T	c.(7120-7122)cCc>cTc	p.P2374L	USP24_uc001cyg.4_Missense_Mutation_p.P2208L	NM_015306	NP_056121	Q9UPU5	UBP24_HUMAN	Homo sapiens ubiquitin specific peptidase 24 (USP24), mRNA.	2374					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						AGGGCTTGAGGGAGCAATGCT	0.448000														67			33		0	0	0.002096	0	0
ELFN2	114794	broad.mit.edu	37	22	37771193	37771193	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr22:37771193G>A	uc003asq.4	-	2	1168	c.382C>T	c.(382-384)Cgc>Tgc	p.R128C	ELFN2_uc021wph.1_Missense_Mutation_p.R128C	NM_052906	NP_443138	Q5R3F8	LRFN6_HUMAN	Homo sapiens extracellular leucine-rich repeat and fibronectin type III domain containing 2 (ELFN2), mRNA.	128						cell surface|integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					AACTGCAGGCGGCTCATGCCT	0.632000														55			23		0	0	0.002299	0	0
ANKRD20A2	441430	broad.mit.edu	37	2	95480910	95480910	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr2:95480910C>T	uc010fhq.2	-	1	1470	c.1078G>A	c.(1078-1080)Gag>Aag	p.E360K	ANKRD20A2_uc010fhp.3_Non-coding_Transcript	NM_001012421	NP_001012421	Q5SQ80	A20A2_HUMAN	Homo sapiens ankyrin repeat domain 20 family, member A2 (ANKRD20A2), mRNA.	780										large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	4						TTACTTTTCTCTTCTAGTACG	0.353000														104			55		0	0	0.003610	0	0
TTN	7273	broad.mit.edu	37	2	179569665	179569665	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr2:179569665C>T	uc021vsy.1	-	100	26126	c.25901G>A	c.(25900-25902)aGg>aAg	p.R8634K	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.R5295K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	9561	Ig-like 69.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R8634H(1)|p.R8634C(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTTTTCGTCCCTCTCTGACCT	0.328000														79			26		0	0	0.007291	0	0
FANK1	92565	broad.mit.edu	37	10	127677178	127677178	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr10:127677178C>T	uc009yan.3	+	2	354	c.250C>T	c.(250-252)Cgc>Tgc	p.R84C	FANK1_uc010quk.1_Missense_Mutation_p.R78C|FANK1_uc001ljh.4_Missense_Mutation_p.R84C|FANK1_uc001lji.3_Missense_Mutation_p.R78C	NM_145235	NP_660278	Q8TC84	FANK1_HUMAN	Homo sapiens fibronectin type III and ankyrin repeat domains 1 (FANK1), mRNA.	84	Fibronectin type-III.					cytoplasm|nucleus		p.R84H(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(10)|ovary(1)|urinary_tract(1)	21		all_lung(145;0.00752)|Lung NSC(174;0.0115)|Colorectal(57;0.0847)|all_neural(114;0.0936)				GTACAGATTTCGCCTGAAGGT	0.522000														109			55		0	0	0.003610	0	0
PTPRD	5789	broad.mit.edu	37	9	8492971	8492971	+	Silent	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr9:8492971G>A	uc003zkk.3	-	26	3101	c.2358C>T	c.(2356-2358)atC>atT	p.I786I	PTPRD_uc003zkp.3_Intron|PTPRD_uc003zkq.3_Intron|PTPRD_uc003zkr.3_Intron|PTPRD_uc003zks.3_Intron|PTPRD_uc022bdj.1_Intron	NM_002839	NP_002830	P23468	PTPRD_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA.	786	Fibronectin type-III 5.				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)		GCCCAGAAATGATCATGTCCT	0.483000										TSP Lung(15;0.13)				27			31		0	0	0.003755	0	0
MAGEA4	4103	broad.mit.edu	37	X	151092719	151092719	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chrX:151092719C>T	uc022cgv.1	+	0	583	c.583C>T	c.(583-585)Cag>Tag	p.Q195*	MAGEA4_uc004fez.3_Nonsense_Mutation_p.Q195*|MAGEA4_uc004ffa.3_Nonsense_Mutation_p.Q195*|MAGEA4_uc004ffb.3_Nonsense_Mutation_p.Q195*|MAGEA4_uc022cgu.1_Nonsense_Mutation_p.Q223*|MAGEA4_uc004ffc.3_Nonsense_Mutation_p.Q195*|MAGEA4_uc004ffd.3_Nonsense_Mutation_p.Q195*	NM_002362	NP_002353	P43358	MAGA4_HUMAN	Homo sapiens melanoma antigen family A, 4 (MAGEA4), transcript variant 2, mRNA.	195	MAGE.						protein binding			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)	27	Acute lymphoblastic leukemia(192;6.56e-05)					GGGTAATAATCAGATCTTTCC	0.547000														16			34		0	0	0.002836	0	0
PHRF1	57661	broad.mit.edu	37	11	591394	591394	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr11:591394C>T	uc001lqe.3	+	4	562	c.431C>T	c.(430-432)tCc>tTc	p.S144F	PHRF1_uc010qwc.2_Missense_Mutation_p.S144F|PHRF1_uc010qwd.2_Missense_Mutation_p.S143F|PHRF1_uc010qwe.2_Missense_Mutation_p.S140F|PHRF1_uc009ybz.1_5'Flank	NM_020901	NP_065952	Q9P1Y6	PHRF1_HUMAN	Homo sapiens PHD and ring finger domains 1 (PHRF1), mRNA.	144							RNA polymerase binding|zinc ion binding			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						AATGCCAATTCCTGTCCAGTT	0.383000														9			4		0	0	0.000602	0	0
COL6A6	131873	broad.mit.edu	37	3	130311917	130311917	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr3:130311917G>A	uc010htl.3	+	14	4415	c.4384G>A	c.(4384-4386)Gaa>Aaa	p.E1462K	COL6A6_uc003eni.4_5'UTR	NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	Homo sapiens collagen, type VI, alpha 6 (COL6A6), mRNA.	1462	Triple-helical region.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						AGAAGTTGGGGAAAATGGAAT	0.368000														234			73		0	0	0.003610	0	0
KRT84	3890	broad.mit.edu	37	12	52779212	52779212	+	Missense_Mutation	SNP	C	T	T	rs143172691		TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr12:52779212C>T	uc001sah.1	-	0	206	c.158G>A	c.(157-159)cGg>cAg	p.R53Q		NM_033045	NP_149034	Q9NSB2	KRT84_HUMAN	Homo sapiens keratin 84 (KRT84), mRNA.	53	Head.					keratin filament	structural constituent of epidermis	p.R53Q(2)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3)	27	all_hematologic(5;0.12)			BRCA - Breast invasive adenocarcinoma(357;0.189)		GATGACACTCCGACTACCAAA	0.582000														17			15		0	0	0.003163	0	0
KAT6A	7994	broad.mit.edu	37	8	41792152	41792152	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr8:41792152G>A	uc010lxb.3	-	17	4130	c.3586C>T	c.(3586-3588)Cct>Tct	p.P1196S	KAT6A_uc010lxc.3_Missense_Mutation_p.P1196S|KAT6A_uc003xon.4_Missense_Mutation_p.P1196S	NM_001099412	NP_006757	Q92794	MYST3_HUMAN	Homo sapiens K(lysine) acetyltransferase 6A (KAT6A), transcript variant 1, mRNA.	1196					histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding										CCAGCTTTAGGAATGGAAACG	0.483000														76			38		0	0	0.006999	0	0
AQP8	343	broad.mit.edu	37	16	25232851	25232851	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr16:25232851C>T	uc002doc.3	+	2	416	c.334C>T	c.(334-336)Ccg>Tcg	p.P112S		NM_001169	NP_001160	O94778	AQP8_HUMAN	Homo sapiens aquaporin 8 (AQP8), mRNA.	112					cellular response to cAMP	integral to plasma membrane	water channel activity			NS(1)|breast(1)|large_intestine(3)|lung(8)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	16				GBM - Glioblastoma multiforme(48;0.044)		GATGCTCCTCCCGTACTGGGT	0.622000														61			28		0	0	0.001512	0	0
TSGA10	80705	broad.mit.edu	37	2	99725409	99725409	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr2:99725409G>A	uc002szg.4	-	4	725	c.97C>T	c.(97-99)Cgt>Tgt	p.R33C	TSGA10_uc002szh.4_Missense_Mutation_p.R33C|TSGA10_uc002szi.4_Missense_Mutation_p.R33C|TSGA10_uc010fin.1_Missense_Mutation_p.R33C|TSGA10_uc010yvn.1_Missense_Mutation_p.R33C	NM_182911	NP_878915	Q9BZW7	TSG10_HUMAN	Homo sapiens testis specific, 10 (TSGA10), transcript variant 2, mRNA.	33					spermatogenesis	cytoplasm|nuclear membrane				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	34						AGTTCTTCACGATCTCTTGTT	0.343000														31			12		0	0	0.001368	0	0
C17orf78	284099	broad.mit.edu	37	17	35736186	35736186	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr17:35736186G>A	uc002hns.3	+	2	307	c.257G>A	c.(256-258)aGa>aAa	p.R86K	ACACA_uc002hnn.3_Intron|ACACA_uc002hno.3_Intron|ACACA_uc002hnq.2_Intron|C17orf78_uc010cva.1_Missense_Mutation_p.R86K	NM_173625	NP_775896	Q8N4C9	CQ078_HUMAN	Homo sapiens chromosome 17 open reading frame 78 (C17orf78), mRNA.	86						integral to membrane				NS(1)|endometrium(1)|large_intestine(1)|lung(2)|stomach(1)	6		Breast(25;0.00295)|Ovarian(249;0.15)				TATTTGGAGAGAAGGCCAAAG	0.463000														99			49		0	0	0.003610	0	0
MYLK	4638	broad.mit.edu	37	3	123367818	123367818	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr3:123367818G>A	uc003ego.3	-	26	4697	c.4415_splice	c.e26+1	p.S1472_splice	MYLK_uc010hrr.3_Splice_Site|MYLK_uc011bjv.2_Splice_Site_p.S272_splice|MYLK_uc011bjw.2_Splice_Site_p.S1472_splice|MYLK_uc003egp.3_Splice_Site_p.S1403_splice|MYLK_uc003egq.3_Splice_Site_p.S1472_splice|MYLK_uc003egr.3_Splice_Site_p.S1403_splice|MYLK_uc003egs.3_Splice_Site_p.S1296_splice	NM_053025	NP_444253	Q15746	MYLK_HUMAN	Homo sapiens myosin light chain kinase (MYLK), transcript variant 1, mRNA.	1472	Protein kinase.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	ATP binding|actin binding|calmodulin binding|metal ion binding|myosin light chain kinase activity	p.S1472Y(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CTCCACTTACGATCCTAATCT	0.527000														48			22		0	0	0.003954	0	0
SIGLEC1	6614	broad.mit.edu	37	20	3673398	3673398	+	Missense_Mutation	SNP	G	A	A	rs150431597		TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr20:3673398G>A	uc002wja.3	-	14	3800	c.3800C>T	c.(3799-3801)cCg>cTg	p.P1267L	SIGLEC1_uc002wiz.4_Missense_Mutation_p.P1267L|SIGLEC1_uc002wjb.1_5'UTR	NM_023068	NP_075556	Q9BZZ2	SN_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 1, sialoadhesin (SIGLEC1), mRNA.	1267	Ig-like C2-type 13.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						GGCAGCCTCCGGAGCCAGGAT	0.657000														36			18		0	0	0.007413	0	0
OR1N2	138882	broad.mit.edu	37	9	125316390	125316390	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr9:125316390G>A	uc011lyx.2	+	0	942	c.942G>A	c.(940-942)atG>atA	p.M314I		NM_001004457	NP_001004457	Q8NGR9	OR1N2_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily N, member 2 (OR1N2), mRNA.	314					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						ACAGAGACATGAAGGAGGCTT	0.408000														18			18		0	0	0.006122	0	0
ENPP3	5169	broad.mit.edu	37	6	132014660	132014660	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr6:132014660C>G	uc003qcu.4	+	15	1655	c.1308C>G	c.(1306-1308)ttC>ttG	p.F436L	ENPP3_uc003qcv.3_Missense_Mutation_p.F436L|ENPP3_uc010kfq.3_Non-coding_Transcript	NM_005021	NP_005012	O14638	ENPP3_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 3 (ENPP3), mRNA.	436	Phosphodiesterase.				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)		ATCAGCATTTCAAGCCCTATT	0.373000														44			22		0	0	0.004656	0	0
EDN3	1908	broad.mit.edu	37	20	57876515	57876515	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr20:57876515C>T	uc002yap.3	+	1	472	c.103C>T	c.(103-105)Cag>Tag	p.Q35*	EDN3_uc002yao.1_Nonsense_Mutation_p.Q35*|EDN3_uc002yaq.3_Nonsense_Mutation_p.Q35*|EDN3_uc002yar.3_Nonsense_Mutation_p.Q35*|EDN3_uc002yas.3_Nonsense_Mutation_p.Q35*	NM_000114	NP_996917	P14138	EDN3_HUMAN	Homo sapiens endothelin 3 (EDN3), transcript variant 1, mRNA.	35					cell surface receptor linked signaling pathway|inositol phosphate-mediated signaling|neutrophil chemotaxis|peptide hormone secretion|positive regulation of MAP kinase activity|positive regulation of heart rate|positive regulation of hormone secretion|positive regulation of leukocyte chemotaxis|positive regulation of mitosis|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction	extracellular space|soluble fraction	endothelin B receptor binding|hormone activity	p.S34F(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	19	all_lung(29;0.0115)					CGGCGTGTCCCAGGCCCCCAC	0.662000														19			7		0	0	0.004482	0	0
SLCO1A2	6579	broad.mit.edu	37	12	21448671	21448671	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr12:21448671C>T	uc001rer.3	-	8	1382	c.1131G>A	c.(1129-1131)atG>atA	p.M377I	SLCO1A2_uc010siq.2_Missense_Mutation_p.M245I|SLCO1A2_uc001res.3_Missense_Mutation_p.M377I|SLCO1A2_uc010sio.2_Missense_Mutation_p.M245I|SLCO1A2_uc010sip.2_Missense_Mutation_p.M245I|SLCO1A2_uc001ret.3_Missense_Mutation_p.M375I|SLCO1A2_uc001reu.2_Missense_Mutation_p.M357I	NM_021094	NP_602307	P46721	SO1A2_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1A2 (SLCO1A2), transcript variant 2, mRNA.	377					bile acid metabolic process|sodium-independent organic anion transport	integral to membrane|plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48						TGAACTTCTTCATAATTAAAC	0.289000														21			8		0	0	0.000673	0	0
OR8K5	219453	broad.mit.edu	37	11	55926886	55926886	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr11:55926886T>C	uc010rja.2	-	0	908	c.908A>G	c.(907-909)aAg>aGg	p.K303R		NM_001004058	NP_001004058	Q8NH50	OR8K5_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily K, member 5 (OR8K5), mRNA.	303					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	34	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)				CTCAAAGAGCTTATAGAAGGC	0.274000														18			9		0	0	0.001368	0	0
ZNF214	7761	broad.mit.edu	37	11	7022704	7022704	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr11:7022704C>T	uc009yfh.1	-	2	509	c.210G>A	c.(208-210)tgG>tgA	p.W70*	ZNF214_uc001mfa.2_Nonsense_Mutation_p.W70*|ZNF214_uc010ray.1_Nonsense_Mutation_p.W70*	NM_013249	NP_037381	Q9UL59	ZN214_HUMAN	Homo sapiens zinc finger protein 214 (ZNF214), mRNA.	70	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081)		CAGCATTCCACCAGCCTTGCC	0.403000														148			56		0	0	0.003610	0	0
GABRB3	2562	broad.mit.edu	37	15	26828491	26828491	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr15:26828491C>T	uc001zbb.3	-	5	803	c.700G>A	c.(700-702)Gaa>Aaa	p.E234K	GABRB3_uc021sgg.1_Missense_Mutation_p.E107K|GABRB3_uc021sgh.1_Missense_Mutation_p.E93K|GABRB3_uc001zaz.3_Missense_Mutation_p.E178K|GABRB3_uc001zba.3_Missense_Mutation_p.E178K	NM_001191320	NP_001178249	P28472	GBRB3_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 3 (GABRB3), transcript variant 3, mRNA.	178					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	p.S234T(1)		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)	CTTTCAATTTCCAGAGTGCAG	0.428000														46			22		0	0	0.002299	0	0
PRSS38	339501	broad.mit.edu	37	1	228005126	228005126	+	Silent	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr1:228005126G>A	uc001hrh.3	+	2	528	c.528G>A	c.(526-528)gtG>gtA	p.V176V		NM_183062	NP_898885	A1L453	PRS38_HUMAN	Homo sapiens protease, serine, 38 (PRSS38), mRNA.	176	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						CTCCAGAAGTGAACCTTACCA	0.552000														26			35		0	0	0.003755	0	0
ASCC2	84164	broad.mit.edu	37	22	30185011	30185011	+	Silent	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr22:30185011G>A	uc003agr.3	-	19	2409	c.2265C>T	c.(2263-2265)atC>atT	p.I755I	ASCC2_uc011akr.2_Silent_p.I679I|ASCC2_uc003ags.3_Non-coding_Transcript	NM_032204	NP_115580	Q9H1I8	ASCC2_HUMAN	Homo sapiens activating signal cointegrator 1 complex subunit 2 (ASCC2), transcript variant 1, mRNA.	755					regulation of transcription, DNA-dependent|transcription, DNA-dependent					endometrium(3)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(5;0.000103)|Epithelial(10;0.0169)|all cancers(5;0.0259)			CTCAGGATGGGATCATGCCTT	0.632000														81			38		0	0	0.005524	0	0
SPTB	6710	broad.mit.edu	37	14	65239389	65239389	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr14:65239389G>A	uc001xht.3	-	24	5513	c.5462C>T	c.(5461-5463)cCc>cTc	p.P1821L	SPTB_uc001xhr.3_Missense_Mutation_p.P1821L|SPTB_uc001xhs.3_Missense_Mutation_p.P1821L|SPTB_uc001xhu.3_Missense_Mutation_p.P1821L|SPTB_uc010aqi.3_Missense_Mutation_p.P482L	NM_000347	NP_000338	P11277	SPTB1_HUMAN	Homo sapiens spectrin, beta, erythrocytic (SPTB), transcript variant 2, mRNA.	1821					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)		CACGTCCTCGGGCAGCTCGCG	0.667000														49			22		0	0	0.003330	0	0
STYK1	55359	broad.mit.edu	37	12	10774548	10774548	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr12:10774548G>A	uc001qys.2	-	9	1512	c.991C>T	c.(991-993)Cct>Tct	p.P331S		NM_018423	NP_060893	Q6J9G0	STYK1_HUMAN	Homo sapiens serine/threonine/tyrosine kinase 1 (STYK1), mRNA.	331	Protein kinase.					integral to membrane|plasma membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	26						CTGGTAGGAGGGACTTCAGGA	0.418000										HNSCC(73;0.22)				78			37		0	0	0.007835	0	0
NAV1	89796	broad.mit.edu	37	1	201752716	201752716	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr1:201752716C>T	uc021phi.1	+	6	2887	c.2540C>T	c.(2539-2541)cCc>cTc	p.P847L	NAV1_uc001gwu.3_Missense_Mutation_p.P847L|NAV1_uc001gwv.1_Missense_Mutation_p.P355L|NAV1_uc001gww.2_Missense_Mutation_p.P456L|NAV1_uc001gwx.3_Missense_Mutation_p.P456L|NAV1_uc001gwy.1_Missense_Mutation_p.P228L	NM_020443	NP_065176	Q8NEY1	NAV1_HUMAN	Homo sapiens neuron navigator 1 (NAV1), transcript variant 1, mRNA.	847					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						AGTCCGGCACCCATCCTCAAT	0.557000														215			47		0	0	0.003214	0	0
NFKB2	4791	broad.mit.edu	37	10	104157399	104157399	+	Silent	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr10:104157399C>T	uc001kvb.3	+	7	883	c.618C>T	c.(616-618)tcC>tcT	p.S206S	NFKB2_uc001kva.3_Silent_p.S206S|NFKB2_uc010qqk.1_Silent_p.S206S|NFKB2_uc001kvd.3_Silent_p.S206S|NFKB2_uc009xxc.3_Silent_p.S206S	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.	206	RHD.				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)		GCTCCTTCTCCCTGCCCCTGA	0.577000			T	IGH@	B-NHL									115			37		0	0	0.006999	0	0
DLGAP3	58512	broad.mit.edu	37	1	35370342	35370342	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr1:35370342C>T	uc001byc.3	-	0	643	c.643G>A	c.(643-645)Ggc>Agc	p.G215S		NM_001080418	NP_001073887	O95886	DLGP3_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 3 (DLGAP3), mRNA.	215					cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				CCTCCAGAGCCCGGGCCGGGG	0.652000														19			16		0	0	0.003163	0	0
FRMPD2	143162	broad.mit.edu	37	10	49457125	49457125	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr10:49457125G>A	uc001jgi.3	-	2	579	c.248C>T	c.(247-249)cCt>cTt	p.P83L	FRMPD2_uc001jgh.3_Missense_Mutation_p.P74L|FRMPD2_uc001jgj.3_Missense_Mutation_p.P74L	NM_001018071	NP_001018081	Q68DX3	FRPD2_HUMAN	Homo sapiens FERM and PDZ domain containing 2 (FRMPD2), transcript variant 3, mRNA.	83	KIND.				tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		GGCCTTGAAAGGAGCAGCCTC	0.532000														19			10		0	0	0.000673	0	0
GRIA1	2890	broad.mit.edu	37	5	153054204	153054204	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr5:153054204G>A	uc011dcy.2	+	5	901	c.874G>A	c.(874-876)Gac>Aac	p.D292N	GRIA1_uc003lva.4_Missense_Mutation_p.D282N|GRIA1_uc003luy.4_Missense_Mutation_p.D282N|GRIA1_uc003luz.4_Missense_Mutation_p.D187N|GRIA1_uc011dcv.2_Non-coding_Transcript|GRIA1_uc011dcw.2_Missense_Mutation_p.D202N|GRIA1_uc011dcx.2_Missense_Mutation_p.D213N|GRIA1_uc011dcz.2_Missense_Mutation_p.D292N|GRIA1_uc010jia.1_Missense_Mutation_p.D262N	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	Homo sapiens glutamate receptor, ionotropic, AMPA 1 (GRIA1), transcript variant 2, mRNA.	282					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	PDZ domain binding|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CACACGGGTGGACTGGAAGAG	0.537000														33			17		0	0	0.004007	0	0
GPR112	139378	broad.mit.edu	37	X	135469928	135469928	+	Silent	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chrX:135469928G>A	uc004ezu.1	+	15	8097	c.7806G>A	c.(7804-7806)ggG>ggA	p.G2602G	GPR112_uc010nsb.1_Silent_p.G2397G	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA.	2602					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)					CTGTGGGAGGGATTTTGGCTT	0.413000														14			47		0	0	0.003610	0	0
PCLO	27445	broad.mit.edu	37	7	82579822	82579822	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr7:82579822G>A	uc003uhx.2	-	5	10371	c.10082C>T	c.(10081-10083)gCt>gTt	p.A3361V	PCLO_uc003uhv.2_Missense_Mutation_p.A3361V|PCLO_uc010lec.3_Missense_Mutation_p.A326V	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	3292					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						TGCCACAACAGCTGAAGCTGT	0.483000														7			13		0	0	0.001368	0	0
DMRTC2	63946	broad.mit.edu	37	19	42353257	42353257	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr19:42353257G>A	uc010xwe.2	+	5	771	c.688G>A	c.(688-690)Gga>Aga	p.G230R	DMRTC2_uc002orr.1_Missense_Mutation_p.G107R|DMRTC2_uc002ors.3_Missense_Mutation_p.G230R	NM_001040283	NP_001035373	Q8IXT2	DMRTD_HUMAN	Homo sapiens DMRT-like family C2 (DMRTC2), mRNA.	230	Pro-rich.				cell differentiation|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	10						CACCTGCCCAGGATCTCACCC	0.567000														69			51		0	0	0.003610	0	0
CMIP	80790	broad.mit.edu	37	16	81735267	81735267	+	Silent	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr16:81735267C>T	uc002fgp.3	+	15	1830	c.1758C>T	c.(1756-1758)atC>atT	p.I586I	CMIP_uc002fgq.2_Silent_p.I492I|CMIP_uc010vnq.2_Silent_p.I399I|CMIP_uc002fgr.2_Silent_p.I433I	NM_198390	NP_938204	Q8IY22	CMIP_HUMAN	Homo sapiens c-Maf inducing protein (CMIP), transcript variant 1, mRNA.	552						cytoplasm|nucleus		p.I586I(2)|p.I491I(1)		endometrium(5)|kidney(1)|lung(7)	13						CTGGACAGATCCTGTGCTTGA	0.557000														98			59		0	0	0.003610	0	0
PPP4R4	57718	broad.mit.edu	37	14	94718218	94718218	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr14:94718218C>T	uc001ycs.1	+	15	2004	c.1850C>T	c.(1849-1851)cCa>cTa	p.P617L		NM_058237	NP_478144	Q6NUP7	PP4R4_HUMAN	Homo sapiens protein phosphatase 4, regulatory subunit 4 (PPP4R4), transcript variant 1, mRNA.	617						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						ACACATGATCCAGTAGCAAAT	0.284000														36			14		0	0	0.004007	0	0
LRP1B	53353	broad.mit.edu	37	2	141473590	141473590	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr2:141473590G>A	uc002tvj.1	-	36	6947	c.5975C>T	c.(5974-5976)tCc>tTc	p.S1992F		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	1992					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)		CAGGCCTTGGGAAATAATTAC	0.353000										TSP Lung(27;0.18)				46			17		0	0	0.004007	0	0
WNT10A	80326	broad.mit.edu	37	2	219754737	219754737	+	Silent	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr2:219754737C>T	uc002vjd.1	+	2	871	c.408C>T	c.(406-408)atC>atT	p.I136I		NM_025216	NP_079492	Q9GZT5	WN10A_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 10A (WNT10A), mRNA.	136					Wnt receptor signaling pathway, calcium modulating pathway|anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to transforming growth factor beta stimulus|female gonad development|hair follicle morphogenesis|odontogenesis|regulation of odontogenesis of dentine-containing tooth|sebaceous gland development|skin development|tongue development	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity			breast(1)|cervix(1)|endometrium(2)|lung(6)|skin(2)	12		Renal(207;0.0474)		Epithelial(149;4.26e-07)|all cancers(144;8.8e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCTACGCCATCGCAGCAGCTG	0.617000														39			25		0	0	0.006320	0	0
NIPAL4	348938	broad.mit.edu	37	5	156899636	156899636	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr5:156899636T>A	uc003lwx.4	+	5	1185	c.1069T>A	c.(1069-1071)Ttc>Atc	p.F357I	ADAM19_uc003lww.2_Intron|NIPAL4_uc011ddq.2_Missense_Mutation_p.F338I	NM_001099287	NP_001092757	Q0D2K0	NIPA4_HUMAN	Homo sapiens NIPA-like domain containing 4 (NIPAL4), transcript variant 1, mRNA.	357						integral to membrane	receptor activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|skin(1)	22						TTCCCTGGTGTTCCCCATCTA	0.542000											OREG0016979	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		72			27		0	0	0.001786	0	0
DDX19B	11269	broad.mit.edu	37	16	70351453	70351453	+	Silent	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr16:70351453G>A	uc002eyo.3	+	4	480	c.351G>A	c.(349-351)aaG>aaA	p.K117K	DDX19B_uc002eys.3_Intron|DDX19B_uc010vlv.2_Intron|DDX19B_uc010vlw.2_Silent_p.K8K|DDX19B_uc002eyp.3_Intron|DDX19B_uc002eyq.3_Silent_p.K8K|DDX19B_uc010vlx.2_Intron|LOC100506083_uc002eyt.3_Intron	NM_007242	NP_001014449	Q9UMR2	DD19B_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-As) box polypeptide 19B (DDX19B), transcript variant 1, mRNA.	117					mRNA export from nucleus|protein transport|transmembrane transport	cytoplasm|nuclear membrane|nuclear pore	ATP binding|ATP-dependent helicase activity|RNA binding|protein binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|prostate(1)	9		Ovarian(137;0.0694)				GTCCATCCAAGATACAAGAGA	0.383000														62			18		0	0	0.004656	0	0
FRMPD2	143162	broad.mit.edu	37	10	49381042	49381042	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr10:49381042G>A	uc001jgi.3	-	24	3501	c.3170C>T	c.(3169-3171)tCc>tTc	p.S1057F	FRMPD2_uc001jgh.3_Missense_Mutation_p.S1025F|FRMPD2_uc001jgj.3_Missense_Mutation_p.S1026F|FRMPD2_uc001jgf.3_Missense_Mutation_p.S68F|FRMPD2_uc001jgg.3_Missense_Mutation_p.S9F|FRMPD2_uc001jgk.3_Missense_Mutation_p.S9F	NM_001018071	NP_001018081	Q68DX3	FRPD2_HUMAN	Homo sapiens FERM and PDZ domain containing 2 (FRMPD2), transcript variant 3, mRNA.	1057					tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		TGTTACCAAGGAAACAGCCGT	0.498000														31			54		0	0	0.003610	0	0
PCDHB4	56131	broad.mit.edu	37	5	140503944	140503944	+	Silent	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr5:140503944C>T	uc003lip.1	+	0	2364	c.2364C>T	c.(2362-2364)ttC>ttT	p.F788F		NM_018938	NP_061761	Q9Y5E5	PCDB4_HUMAN	Homo sapiens protocadherin beta 4 (PCDHB4), mRNA.	788					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)			ACCCCAAGTTCAGAAATAGCT	0.408000														24			18		0	0	0.001523	0	0
NDST1	3340	broad.mit.edu	37	5	149914541	149914541	+	Silent	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr5:149914541C>T	uc003lsk.4	+	4	1711	c.1209C>T	c.(1207-1209)tcC>tcT	p.S403S	NDST1_uc011dcj.2_Silent_p.S403S|NDST1_uc003lsl.3_Silent_p.S403S	NM_001543	NP_001534	P52848	NDST1_HUMAN	Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1 (NDST1), mRNA.	403	Heparan sulfate N-deacetylase 1.				heparan sulfate proteoglycan biosynthetic process|inflammatory response	Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	34		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACAACCAGTCCGTGTTGGCCG	0.592000														22			10		0	0	0.006214	0	0
LHPP	64077	broad.mit.edu	37	10	126172720	126172720	+	Silent	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr10:126172720C>T	uc001lhs.2	+	1	229	c.138C>T	c.(136-138)tcC>tcT	p.S46S	LHPP_uc001lht.2_Silent_p.S46S|LHPP_uc009yai.2_Silent_p.S46S	NM_022126	NP_071409	Q9H008	LHPP_HUMAN	Homo sapiens phospholysine phosphohistidine inorganic pyrophosphate phosphatase (LHPP), transcript variant 1, mRNA.	46					protein dephosphorylation	cytosol|nucleus	inorganic diphosphatase activity|magnesium ion binding|phosphohistidine phosphatase activity|protein homodimerization activity			large_intestine(2)|lung(2)	4		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.163)|Colorectal(40;0.187)		TGAAGCGTTCCCGGCTGAAGG	0.617000														18			5		0	0	0.000602	0	0
ERC2	26059	broad.mit.edu	37	3	56026138	56026138	+	Silent	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr3:56026138C>T	uc021wzo.1	-	9	2342	c.2202G>A	c.(2200-2202)aaG>aaA	p.K734K	ERC2_uc003dhr.1_Silent_p.K734K|ERC2_uc003dht.1_Silent_p.K217K	NM_015576	NP_056391	O15083	ERC2_HUMAN	Homo sapiens ELKS/RAB6-interacting/CAST family member 2 (ERC2), mRNA.	734						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)		TCTCCACCTCCTTGAGGATCT	0.468000														108			73		0	0	0.003610	0	0
GUCY2C	2984	broad.mit.edu	37	12	14778782	14778782	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr12:14778782G>A	uc001rcd.3	-	20	2454	c.2317C>T	c.(2317-2319)Cga>Tga	p.R773*		NM_004963	NP_004954	P25092	GUC2C_HUMAN	Homo sapiens guanylate cyclase 2C (heat stable enterotoxin receptor) (GUCY2C), mRNA.	773					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	p.R773R(2)		breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						TCCAGGTTTCGAGAATATAGC	0.408000														56			28		0	0	0.001786	0	0
PKD2L1	9033	broad.mit.edu	37	10	102051114	102051114	+	Missense_Mutation	SNP	G	A	A	rs115252223	byFrequency	TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr10:102051114G>A	uc001kqx.1	-	11	2334	c.1951C>T	c.(1951-1953)Cgt>Tgt	p.R651C	PKD2L1_uc009xwm.1_Missense_Mutation_p.R604C	NM_016112	NP_057196	Q9P0L9	PK2L1_HUMAN	Homo sapiens polycystic kidney disease 2-like 1 (PKD2L1), transcript variant 1, mRNA.	651					signal transduction	integral to membrane	calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding			NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		TCCAGAATACGATTCCCATCT	0.498000														49			22		0	0	0.002299	0	0
NWD1	284434	broad.mit.edu	37	19	16908556	16908556	+	Silent	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr19:16908556G>A	uc002neu.4	+	15	3740	c.3318G>A	c.(3316-3318)tcG>tcA	p.S1106S	NWD1_uc002net.4_Silent_p.S971S|NWD1_uc002nev.4_Silent_p.S900S|NWD1_uc021uqg.1_Silent_p.S971S	NM_001007525	NP_001007526	Q149M9	NWD1_HUMAN	Homo sapiens NACHT and WD repeat domain containing 1 (NWD1), mRNA.	1106							ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TTGGAAGATCGGTGCGGATAT	0.522000														60			30		0	0	0.002836	0	0
C12orf63	374467	broad.mit.edu	37	12	97078897	97078897	+	Silent	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr12:97078897C>T	uc021rcc.1	+	8	1248	c.1170C>T	c.(1168-1170)ctC>ctT	p.L390L				Q6ZTY8	CL063_HUMAN	RecName: Full=Putative uncharacterized protein C12orf63;	390										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						GCCCCTCACTCACCAATGTCA	0.468000														27			19		0	0	0.007413	0	0
ATP6V0A4	50617	broad.mit.edu	37	7	138413516	138413516	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr7:138413516C>T	uc003vuf.3	-	16	2238	c.2000G>A	c.(1999-2001)cGg>cAg	p.R667Q	ATP6V0A4_uc003vug.3_Missense_Mutation_p.R667Q|ATP6V0A4_uc003vuh.3_Missense_Mutation_p.R667Q	NM_130841	NP_570856	Q9HBG4	VPP4_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal V0 subunit a4 (ATP6V0A4), transcript variant 3, mRNA.	667					cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity	p.R667W(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						CTGGGATTTCCGATGACTGGC	0.433000														135			66		0	0	0.003610	0	0
OR5T1	390155	broad.mit.edu	37	11	56043123	56043123	+	Silent	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr11:56043123G>A	uc001nio.1	+	0	9	c.9G>A	c.(7-9)ggG>ggA	p.G3G		NM_001004745	NP_001004745	Q8NG75	OR5T1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily T, member 1 (OR5T1), mRNA.	3					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)					AAATGTCAGGGTTGCCTTCAG	0.318000														144			61		0	0	0.003610	0	0
ANK3	288	broad.mit.edu	37	10	61926631	61926631	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr10:61926631C>T	uc001jky.3	-	21	2840	c.2502G>A	c.(2500-2502)atG>atA	p.M834I	ANK3_uc001jkx.3_Missense_Mutation_p.M12I|ANK3_uc010qih.2_Missense_Mutation_p.M817I|ANK3_uc001jkz.4_Missense_Mutation_p.M828I|ANK3_uc001jlb.1_Missense_Mutation_p.M363I|ANK3_uc001jlc.1_Missense_Mutation_p.M495I	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	834					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						CTGGAACATTCATTTTGTGCT	0.318000														43			22		0	0	0.002780	0	0
TMPRSS15	5651	broad.mit.edu	37	21	19713794	19713794	+	Silent	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr21:19713794C>T	uc002ykw.3	-	12	1531	c.1500G>A	c.(1498-1500)ggG>ggA	p.G500G		NM_002772	NP_002763	P98073	ENTK_HUMAN	Homo sapiens transmembrane protease, serine 15 (TMPRSS15), mRNA.	500	MAM.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity	p.G500G(2)		NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						CATTGCAAATCCCATATGTTA	0.378000														38			23		0	0	0.002299	0	0
XIRP1	165904	broad.mit.edu	37	3	39226637	39226637	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr3:39226637C>T	uc003cjk.2	-	1	4529	c.4300G>A	c.(4300-4302)Gat>Aat	p.D1434N	XIRP1_uc003cji.3_3'UTR|XIRP1_uc003cjj.3_Missense_Mutation_p.D117N|XIRP1_uc021wvz.1_Missense_Mutation_p.D1434N	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN	Homo sapiens xin actin-binding repeat containing 1 (XIRP1), transcript variant 1, mRNA.	1434							actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		GAGGTGGGATCATGGTTGAGG	0.632000														46			35		0	0	0.004289	0	0
GRIN2B	2904	broad.mit.edu	37	12	13720066	13720066	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr12:13720066G>A	uc001rbt.2	-	11	2670	c.2491C>T	c.(2491-2493)Ctc>Ttc	p.L831F		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2B (GRIN2B), mRNA.	831					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|glycine binding|zinc ion binding	p.L831I(2)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	ATGAGGCTGAGAGCCATGGCC	0.512000														51			19		0	0	0.001523	0	0
KCNK13	56659	broad.mit.edu	37	14	90650916	90650916	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr14:90650916C>T	uc001xye.1	+	1	1238	c.796C>T	c.(796-798)Ctc>Ttc	p.L266F		NM_022054	NP_071337	Q9HB14	KCNKD_HUMAN	Homo sapiens potassium channel, subfamily K, member 13 (KCNK13), mRNA.	266						integral to membrane	potassium channel activity|voltage-gated ion channel activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4)	25		all_cancers(154;0.186)				CGTCTTCATCCTCATGGGTGT	0.517000														66			22		0	0	0.002780	0	0
BEND5	79656	broad.mit.edu	37	1	49202121	49202121	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr1:49202121G>A	uc001crx.4	-	4	942	c.898C>T	c.(898-900)Cat>Tat	p.H300Y	AGBL4_uc001cru.2_Intron|AGBL4_uc010omw.1_Intron|AGBL4_uc010omx.1_Intron|AGBL4_uc010omy.1_Intron|AGBL4_uc001crv.1_Intron|BEND5_uc001crw.4_Missense_Mutation_p.H131Y	NM_024603	NP_078879	Q7L4P6	BEND5_HUMAN	Homo sapiens BEN domain containing 5 (BEND5), mRNA.	300										large_intestine(5)|lung(2)|skin(1)	8						CTTCCCAGATGGACCTGAGAG	0.478000														48			16		0	0	0.004990	0	0
ZNF341	84905	broad.mit.edu	37	20	32378973	32378973	+	Nonsense_Mutation	SNP	A	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr20:32378973A>T	uc002wzy.3	+	14	2235	c.2215A>T	c.(2215-2217)Aag>Tag	p.K739*	ZNF341_uc002wzx.3_Nonsense_Mutation_p.K732*|ZNF341_uc010geq.3_Nonsense_Mutation_p.K649*|ZNF341_uc010ger.3_Non-coding_Transcript|ZNF341_uc002wzz.3_Nonsense_Mutation_p.K166*	NM_032819	NP_116208	Q9BYN7	ZN341_HUMAN	Homo sapiens zinc finger protein 341 (ZNF341), mRNA.	739					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	31						CCAAAAGGACAAGGACCTGCA	0.662000														18			7		0	0	0.006214	0	0
GABRR3	200959	broad.mit.edu	37	3	97744496	97744496	+	RNA	SNP	A	G	G			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr3:97744496A>G	uc021xbo.1	-	2		c.270T>C			GABRR3_uc021xbp.1_Non-coding_Transcript	NM_001105580		A8MPY1	GBRR3_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) receptor, rho 3 (GABRR3), mRNA.						gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			large_intestine(2)|lung(1)	3						TGGTACTGTCATCTTTCTTCA	0.398000														21			8		0	0	0.004482	0	0
OR11H1	81061	broad.mit.edu	37	22	16449682	16449682	+	Silent	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr22:16449682G>A	uc011agd.2	-	0	123	c.123C>T	c.(121-123)ttC>ttT	p.F41F		NM_001005239	NP_001005239	Q8NG94	O11H1_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily H, member 1 (OR11H1), mRNA.	41					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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)		GTGAGAAGAGGAAGATCTGAA	0.428000														103			15		0	0	0.002836	0	0
OR4N4	283694	broad.mit.edu	37	15	22382687	22382687	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr15:22382687C>T	uc001yuc.1	+	6	1196	c.215C>T	c.(214-216)tCc>tTc	p.S72F	abParts_uc001yuj.2_Intron|OR4N4_uc001yub.1_Non-coding_Transcript|OR4N4_uc010tzv.2_Missense_Mutation_p.S72F	NM_001005241	NP_001005241	Q8N0Y3	OR4N4_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily N, member 4 (OR4N4), mRNA.	72					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		CTGGATGCATCCTACTCCTTC	0.483000														141			33		0	0	0.001951	0	0
USP11	8237	broad.mit.edu	37	X	47106620	47106620	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chrX:47106620G>A	uc004dhp.3	+	18	2549	c.2549_splice	c.e18+1	p.R850_splice	USP11_uc004dhq.3_Splice_Site_p.R576_splice	NM_004651	NP_004642	P51784	UBP11_HUMAN	Homo sapiens ubiquitin specific peptidase 11 (USP11), mRNA.	850					protein deubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1)	40						TTTCCTATCCGGTCAGGGGCC	0.577000														19			24		0	0	0.006320	0	0
SPTA1	6708	broad.mit.edu	37	1	158612330	158612330	+	Silent	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr1:158612330C>T	uc001fst.1	-	32	4807	c.4608G>A	c.(4606-4608)agG>agA	p.R1536R		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	1536					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)					TCAGGTATTTCCTCTGAAGGG	0.393000														55			9		0	0	0.004482	0	0
PAK7	57144	broad.mit.edu	37	20	9546830	9546830	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr20:9546830C>T	uc002wnl.2	-	5	1737	c.1192G>A	c.(1192-1194)Gct>Act	p.A398T	PAK7_uc002wnk.2_Missense_Mutation_p.A398T|PAK7_uc002wnj.2_Missense_Mutation_p.A398T|PAK7_uc010gby.1_Missense_Mutation_p.A398T	NM_020341	NP_817127	Q9P286	PAK7_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 7 (PAK7), transcript variant 1, mRNA.	398	Linker.						ATP binding|protein binding|protein serine/threonine kinase activity	p.T397K(2)|p.T397T(1)		NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			AGGTAGGAAGCCGTGGAGATG	0.617000														30			16		0	0	0.004007	0	0
RECK	8434	broad.mit.edu	37	9	36083446	36083446	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr9:36083446C>T	uc003zyv.3	+	7	610	c.524C>T	c.(523-525)cCt>cTt	p.P175L	RECK_uc003zyu.4_Missense_Mutation_p.P175L|RECK_uc003zyw.3_Missense_Mutation_p.P47L|RECK_uc003zyx.3_Non-coding_Transcript	NM_021111	NP_066934	O95980	RECK_HUMAN	Homo sapiens reversion-inducing-cysteine-rich protein with kazal motifs (RECK), mRNA.	175	5 X Knot repeats.					anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane	metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)			GACTCTTCTCCTGGTCCATCT	0.398000														27			17		0	0	0.007413	0	0
MIXL1	83881	broad.mit.edu	37	1	226413252	226413252	+	Silent	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr1:226413252G>A	uc010pvm.2	+	1	438	c.438G>A	c.(436-438)ggG>ggA	p.G146G		NM_031944	NP_114150	Q9H2W2	MIXL1_HUMAN	Homo sapiens Mix paired-like homeobox (MIXL1), mRNA.	146					cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)	1	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.109)		GTCAGAGTGGGAAATCCTTCC	0.493000														74			40		0	0	0.003610	0	0
CNR1	1268	broad.mit.edu	37	6	88853983	88853983	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr6:88853983C>T	uc010kbz.3	-	1	1141	c.1011G>A	c.(1009-1011)atG>atA	p.M337I	CNR1_uc011dzr.2_Missense_Mutation_p.M337I|CNR1_uc011dzs.2_Missense_Mutation_p.M337I|CNR1_uc003pmq.4_Missense_Mutation_p.M337I|CNR1_uc011dzt.2_Missense_Mutation_p.M337I|CNR1_uc010kca.3_Missense_Mutation_p.M304I|CNR1_uc021zco.1_Missense_Mutation_p.M337I	NM_016083	NP_057167	P21554	CNR1_HUMAN	Homo sapiens cannabinoid receptor 1 (brain) (CNR1), transcript variant 1, mRNA.	337					G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	cannabinoid receptor activity|protein binding	p.M337I(4)|p.R336H(1)		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)	ACCTAATGTCCATGCGGGCTT	0.557000														57			23		0	0	0.006320	0	0
FMN2	56776	broad.mit.edu	37	1	240256867	240256867	+	Silent	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr1:240256867G>A	uc010pye.2	+	0	1683	c.1458G>A	c.(1456-1458)acG>acA	p.T486T	FMN2_uc010pyd.2_Silent_p.T486T	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	Homo sapiens formin 2 (FMN2), mRNA.	486					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)			CTGACTGGACGGAGGAGCTAG	0.761000														7			4		0	0	0.000248	0	0
WNT3A	89780	broad.mit.edu	37	1	228238380	228238380	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr1:228238380C>T	uc001hrp.2	+	2	444	c.337C>T	c.(337-339)Cac>Tac	p.H113Y	WNT3A_uc001hrq.2_Missense_Mutation_p.H113Y	NM_033131	NP_149122	P56704	WNT3A_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 3A (WNT3A), mRNA.	113					Wnt receptor signaling pathway involved in forebrain neuroblast division|Wnt receptor signaling pathway, calcium modulating pathway|axis specification|cell proliferation in forebrain|cell-cell signaling|cellular response to retinoic acid|convergent extension|dermatome development|dorsal/ventral neural tube patterning|embryonic pattern specification|extracellular matrix organization|hemopoietic stem cell proliferation|hippocampus development|inner ear morphogenesis|mammary gland development|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of neuron projection development|notochord development|palate development|paraxial mesodermal cell fate commitment|positive regulation of catenin import into nucleus|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of receptor internalization|positive regulation of transcription from RNA polymerase II promoter|signalosome assembly|tail morphogenesis	cell surface|early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|frizzled-2 binding|receptor agonist activity|signal transducer activity|transcription coactivator activity			kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	12		Prostate(94;0.0405)				GGCCTTTGTCCACGCCATTGC	0.627000														50			11		0	0	0.000673	0	0
CCNA1	8900	broad.mit.edu	37	13	37014267	37014267	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr13:37014267C>T	uc001uvr.4	+	5	1395	c.1045C>T	c.(1045-1047)Ctt>Ttt	p.L349F	CCNA1_uc010teo.2_Missense_Mutation_p.L305F|CCNA1_uc010abq.3_Missense_Mutation_p.L305F|CCNA1_uc010abp.3_Missense_Mutation_p.L305F|CCNA1_uc001uvs.4_Missense_Mutation_p.L348F|CCNA1_uc010abr.3_Non-coding_Transcript	NM_003914	NP_001104517	P78396	CCNA1_HUMAN	Homo sapiens cyclin A1 (CCNA1), transcript variant 1, mRNA.	349					G2/M transition of mitotic cell cycle|cell division|male meiosis I|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|spermatogenesis	cytosol|microtubule cytoskeleton|nucleoplasm	protein kinase binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	35		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)		CCAGTTTCTCCTTCAGTACTT	0.463000														95			49		0	0	0.003610	0	0
LRRC16B	90668	broad.mit.edu	37	14	24523608	24523608	+	Silent	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr14:24523608C>T	uc001wlj.2	+	4	407	c.250C>T	c.(250-252)Ctg>Ttg	p.L84L		NM_138360	NP_612369	Q8ND23	LR16B_HUMAN	Homo sapiens leucine rich repeat containing 16B (LRRC16B), mRNA.	84										breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52				GBM - Glioblastoma multiforme(265;0.019)		CCCCCAGATCCTGGTGGAGAC	0.617000														44			25		0	0	0.005443	0	0
ANO4	121601	broad.mit.edu	37	12	101493382	101493382	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr12:101493382G>A	uc010svm.1	+	21	2605	c.2033G>A	c.(2032-2034)aGa>aAa	p.R678K	ANO4_uc001thw.2_Missense_Mutation_p.R643K|ANO4_uc001thx.2_Missense_Mutation_p.R678K|ANO4_uc001thy.2_Missense_Mutation_p.R198K	NM_178826	NP_849148	Q32M45	ANO4_HUMAN	Homo sapiens anoctamin 4 (ANO4), mRNA.	678						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						TGGACTAGAAGAAAAGTACGA	0.363000										HNSCC(74;0.22)				42			22		0	0	0.001882	0	0
NBAS	51594	broad.mit.edu	37	2	15493708	15493708	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr2:15493708A>G	uc002rcc.1	-	33	4084	c.4058T>C	c.(4057-4059)cTt>cCt	p.L1353P	NBAS_uc010exl.1_Missense_Mutation_p.L425P|NBAS_uc002rcd.1_Non-coding_Transcript	NM_015909	NP_056993	A2RRP1	NBAS_HUMAN	Homo sapiens neuroblastoma amplified sequence (NBAS), mRNA.	1353										NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						AGCTGCCAAAAGAAGTTCAAT	0.473000														84			34		0	0	0.002836	0	0
COL6A6	131873	broad.mit.edu	37	3	130368262	130368262	+	Silent	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr3:130368262G>A	uc010htl.3	+	31	5620	c.5589G>A	c.(5587-5589)acG>acA	p.T1863T	COL6A6_uc003eni.4_Intron	NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	Homo sapiens collagen, type VI, alpha 6 (COL6A6), mRNA.	1863	Nonhelical region.|VWFA 8.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						GGGCACACACGAGAAAAATCG	0.552000														12			7		0	0	0.001984	0	0
TRPV5	56302	broad.mit.edu	37	7	142630471	142630471	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr7:142630471C>T	uc003wby.1	-	0	350	c.86G>A	c.(85-87)tGg>tAg	p.W29*	TRPV5_uc003wbz.3_Nonsense_Mutation_p.W29*	NM_019841	NP_062815	Q9NQA5	TRPV5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 5 (TRPV5), mRNA.	29					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					GTGCTGGTCCCAGTCTTGTTC	0.567000														49			32		0	0	0.002096	0	0
TCRVA15	0	broad.mit.edu	37	14	22205159	22205159	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr14:22205159G>A	uc001wbp.2	+	1	272	c.223G>A	c.(223-225)Gaa>Aaa	p.E75K	TRA_uc021rpa.1_Intron|TCRVA15_uc010aip.1_Intron|TCRVA15_uc021rpc.1_Non-coding_Transcript					SubName: Full=Tcell alpha chain; Flags: Fragment;																		AGTTACAAACGAAGTGGCCTC	0.488000														8			4		0	0	0.000602	0	0
RAD9A	5883	broad.mit.edu	37	11	67161031	67161031	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr11:67161031C>T	uc001okr.3	+	3	392	c.299C>T	c.(298-300)tCc>tTc	p.S100F	RAD9A_uc021qmg.1_Missense_Mutation_p.S24F	NM_004584	NP_004575	Q99638	RAD9A_HUMAN	Homo sapiens RAD9 homolog A (S. pombe) (RAD9A), transcript variant 1, mRNA.	100			S -> A (in dbSNP:rs2066492).		DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint	nucleoplasm	3'-5' exonuclease activity|SH3 domain binding|exodeoxyribonuclease III activity|histone deacetylase binding|protein kinase binding			lung(7)|upper_aerodigestive_tract(1)	8			BRCA - Breast invasive adenocarcinoma(15;8.53e-07)			TGCTGCATCTCCCTGAATGGC	0.602000								Other conserved DNA damage response genes						25			10		0	0	0.001855	0	0
LIPI	149998	broad.mit.edu	37	21	15524928	15524928	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr21:15524928G>A	uc002yjm.3	-	7	1157	c.1147C>T	c.(1147-1149)Cag>Tag	p.Q383*	LIPI_uc021whg.1_Non-coding_Transcript|LIPI_uc010gkw.2_Nonsense_Mutation_p.Q332*|LIPI_uc021whh.1_Nonsense_Mutation_p.Q356*|LIPI_uc021whi.1_Nonsense_Mutation_p.Q197*|LIPI_uc021whj.1_Intron|LIPI_uc021whe.1_Nonsense_Mutation_p.Q327*|LIPI_uc021whf.1_Nonsense_Mutation_p.Q362*	NM_198996	NP_945347	Q6XZB0	LIPI_HUMAN	Homo sapiens lipase, member I (LIPI), mRNA.	362					lipid catabolic process	extracellular region|extracellular space|membrane|plasma membrane	heparin binding|phospholipase activity			endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)		ATTCCAAGCTGATTTAATAAT	0.284000														23			8		0	0	0.006214	0	0
SLC46A3	283537	broad.mit.edu	37	13	29286936	29286936	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr13:29286936C>T	uc001usj.3	-	2	1483	c.941G>A	c.(940-942)gGa>gAa	p.G314E	SLC46A3_uc001usg.3_Missense_Mutation_p.G239E|SLC46A3_uc001usi.3_Missense_Mutation_p.G314E|SLC46A3_uc001ush.3_Missense_Mutation_p.G314E|SLC46A3_uc001usk.3_Missense_Mutation_p.G239E	NM_001135919	NP_001129391	Q7Z3Q1	S46A3_HUMAN	Homo sapiens solute carrier family 46, member 3 (SLC46A3), transcript variant 2, mRNA.	314					transmembrane transport	integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)	15		Lung SC(185;0.0367)		all cancers(112;0.159)		AAGCCATATTCCTAGGAAACT	0.383000														47			28		0	0	0.001512	0	0
SLC16A14	151473	broad.mit.edu	37	2	230910822	230910822	+	Silent	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr2:230910822G>A	uc002vqd.2	-	3	1479	c.1020C>T	c.(1018-1020)atC>atT	p.I340I	FBXO36_uc010fxi.1_Intron|SLC16A14_uc002vqe.3_Silent_p.I340I|SLC16A14_uc002vqf.3_Silent_p.I340I	NM_152527	NP_689740	Q7RTX9	MOT14_HUMAN	Homo sapiens solute carrier family 16, member 14 (monocarboxylic acid transporter 14) (SLC16A14), mRNA.	340						integral to membrane|plasma membrane	symporter activity			NS(1)|cervix(1)|endometrium(7)|large_intestine(7)|lung(3)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948)		ACAAATTGACGATTTCTGGGA	0.408000														19			9		0	0	0.000673	0	0
DCSTAMP	81501	broad.mit.edu	37	8	105361478	105361478	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr8:105361478G>A	uc003ylx.1	+	1	747	c.698G>A	c.(697-699)cGa>cAa	p.R233Q		NM_030788	NP_110415	Q9H295	TM7S4_HUMAN	Homo sapiens transmembrane 7 superfamily member 4 (TM7SF4), mRNA.	233					osteoclast differentiation	cell surface|integral to membrane|plasma membrane											TTCATGAAGCGATTTTTGGGC	0.498000														63			31		0	0	0.001512	0	0
SERPINA6	866	broad.mit.edu	37	14	94780373	94780373	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr14:94780373C>T	uc001ycv.3	-	2	717	c.613_splice	c.e2+1	p.G205_splice	SERPINA6_uc010auv.3_Non-coding_Transcript	NM_001756	NP_001747	P08185	CBG_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6 (SERPINA6), mRNA.	205					regulation of proteolysis|transport	extracellular space	serine-type endopeptidase inhibitor activity|steroid binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	26		all_cancers(154;0.0482)|all_epithelial(191;0.166)		COAD - Colon adenocarcinoma(157;0.211)	Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620)	GTGGGAATACCTTTGAAGAAG	0.483000														47			24		0	0	0.003330	0	0
DDX60	55601	broad.mit.edu	37	4	169227533	169227534	+	Nonsense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr4:169227533_169227534CC>TT	uc003irp.3	-	4	894_895	c.602_603GG>AA	c.(601-603)tgg>tAA	p.W201*		NM_017631	NP_060101	Q8IY21	DDX60_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 60 (DDX60), mRNA.	201							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)		GAATTACCTTCCAGGAAAAAAT	0.371000														15			9		0	0	0.004672	0	0
PCDH18	54510	broad.mit.edu	37	4	138452990	138452990	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr4:138452990C>T	uc003ihe.4	-	0	640	c.253G>A	c.(253-255)Gaa>Aaa	p.E85K	PCDH18_uc003ihf.4_Missense_Mutation_p.E78K|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.	85	Cadherin 1.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					ATGCTGATTTCCCCATTATCC	0.433000														92			34		0	0	0.004878	0	0
ZNF214	7761	broad.mit.edu	37	11	7021941	7021941	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr11:7021941G>A	uc009yfh.1	-	2	1272	c.973C>T	c.(973-975)Cac>Tac	p.H325Y	ZNF214_uc001mfa.2_Missense_Mutation_p.H325Y|ZNF214_uc010ray.1_Missense_Mutation_p.H325Y	NM_013249	NP_037381	Q9UL59	ZN214_HUMAN	Homo sapiens zinc finger protein 214 (ZNF214), mRNA.	325					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081)		TCTTCTGTGTGGACTCTTTGA	0.393000														47			25		0	0	0.007291	0	0
ACTC1	70	broad.mit.edu	37	15	35083353	35083353	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr15:35083353C>T	uc001ziu.1	-	5	1195	c.952G>A	c.(952-954)Gaa>Aaa	p.E318K	AK092087_uc001zit.1_Intron	NM_005159	NP_005150	P68032	ACTC_HUMAN	Homo sapiens actin, alpha, cardiac muscle 1 (ACTC1), mRNA.	318					apoptosis|cardiac muscle tissue morphogenesis|cardiac myofibril assembly|muscle filament sliding|skeletal muscle thin filament assembly	I band|actomyosin, actin part|cytosol	ATP binding|ATPase activity|myosin binding			central_nervous_system(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	31		all_lung(180;2.3e-08)		all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		GCAGTGATTTCCTTCTGCATA	0.453000														132			68		0	0	0.003610	0	0
XPO5	57510	broad.mit.edu	37	6	43536447	43536448	+	Splice_Site	DNP	CC	TT	TT			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr6:43536447_43536448CC>TT	uc003ovp.3	-	6	859	c.648_splice	c.e6+1	p.K216_splice		NM_020750	NP_065801	Q9HAV4	XPO5_HUMAN	Homo sapiens exportin 5 (XPO5), mRNA.	216					gene silencing by RNA	cytosol|nucleoplasm	protein binding|tRNA binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(4)|lung(10)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	34	all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243)		all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524)			AGAGCTCTTACCTTTGACTCCT	0.421000														59			15		0	0	0.004672	0	0
TRBV5-1	28614	broad.mit.edu	37	7	142021150	142021150	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr7:142021150C>T	uc011krr.1	+	1	315	c.130C>T	c.(130-132)Cct>Tct	p.P44S	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krq.1_Missense_Mutation_p.P44S					SubName: Full=V_segment translation product; Flags: Fragment;																		GAGCTGCTCCCCTATCTCTGG	0.498000														15			6		0	0	0.001984	0	0
LIFR	3977	broad.mit.edu	37	5	38482161	38482161	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr5:38482161G>A	uc010ive.1	-	19	3162	c.2830C>T	c.(2830-2832)Cat>Tat	p.H944Y	LIFR_uc003jli.2_Missense_Mutation_p.H944Y	NM_001127671	NP_002301	P42702	LIFR_HUMAN	Homo sapiens leukemia inhibitory factor receptor alpha (LIFR), transcript variant 1, mRNA.	944					positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					ACAACCACATGGTTTTCAGGC	0.448000			T	PLAG1	salivary adenoma									85			31		0	0	0.003755	0	0
GPR113	165082	broad.mit.edu	37	2	26534617	26534617	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr2:26534617C>T	uc002rhe.4	-	10	1979	c.1979G>A	c.(1978-1980)cGa>cAa	p.R660Q	GPR113_uc010yky.1_Missense_Mutation_p.R591Q|GPR113_uc002rhb.1_Missense_Mutation_p.R263Q|GPR113_uc010eyk.1_Missense_Mutation_p.R461Q|GPR113_uc002rhc.1_Missense_Mutation_p.R263Q|GPR113_uc002rhd.1_Non-coding_Transcript	NM_001145168	NP_001138640	Q8IZF5	GP113_HUMAN	Homo sapiens G protein-coupled receptor 113 (GPR113), transcript variant 1, mRNA.	660					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTCCAGTTTTCGCAGCACCAG	0.547000														9			5		0	0	0.001168	0	0
TRAPPC10	7109	broad.mit.edu	37	21	45503088	45503088	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr21:45503088C>T	uc002zea.3	+	13	2312	c.2143C>T	c.(2143-2145)Ccc>Tcc	p.P715S	TRAPPC10_uc010gpo.3_Missense_Mutation_p.P426S|TRAPPC10_uc011afa.2_Missense_Mutation_p.P134S	NM_003274	NP_003265	P48553	TPC10_HUMAN	Homo sapiens trafficking protein particle complex 10 (TRAPPC10), mRNA.	715					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						TCTAGAGATGCCCTCAGGGGT	0.567000														84			50		0	0	0.003610	0	0
HEYL	26508	broad.mit.edu	37	1	40092670	40092670	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr1:40092670G>C	uc001cdp.3	-	4	547	c.496C>G	c.(496-498)Ccc>Gcc	p.P166A	HEYL_uc010oiw.2_Missense_Mutation_p.P138A	NM_014571	NP_055386	Q9NQ87	HEYL_HUMAN	Homo sapiens hairy/enhancer-of-split related with YRPW motif-like (HEYL), mRNA.	166	Pro-rich.				Notch signaling pathway|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.T165M(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	7	Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.1e-18)|Epithelial(16;2.77e-17)|all cancers(16;5.64e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			GGGCCAGTGGGCGTGGGCGAA	0.652000														41			14		0	0	0.006122	0	0
OR8H3	390152	broad.mit.edu	37	11	55890328	55890328	+	Silent	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr11:55890328G>A	uc001nii.1	+	0	480	c.480G>A	c.(478-480)gtG>gtA	p.V160V		NM_001005201	NP_001005201	Q8N146	OR8H3_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily H, member 3 (OR8H3), mRNA.	160					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					TTGTCAATGTGGTTTCCATGA	0.443000														65			36		0	0	0.003271	0	0
ABCA4	24	broad.mit.edu	37	1	94506778	94506778	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr1:94506778C>T	uc001dqh.3	-	22	3613	c.3509G>A	c.(3508-3510)aGg>aAg	p.R1170K		NM_000350	NP_000341	P78363	ABCA4_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 4 (ABCA4), mRNA.	1170					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		ACTGCCTTTCCTTTGGCTCTG	0.562000														28			13		0	0	0.003163	0	0
TMEM132A	54972	broad.mit.edu	37	11	60704034	60704034	+	Silent	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr11:60704034G>A	uc001nqi.3	+	10	2923	c.2730G>A	c.(2728-2730)ctG>ctA	p.L910L	TMEM132A_uc001nqj.3_Silent_p.L909L	NM_017870	NP_060340	Q24JP5	T132A_HUMAN	Homo sapiens transmembrane protein 132A (TMEM132A), transcript variant 1, mRNA.	909	Binds to HSPA5/GRP78 (By similarity).|Confers cellular localization similar to full-length form (By similarity).					Golgi membrane|endoplasmic reticulum membrane|integral to membrane				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						GCCGCCAGCTGGACCGGCAGT	0.716000														20			8		0	0	0.004482	0	0
TTN	7273	broad.mit.edu	37	2	179516832	179516832	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr2:179516832G>A	uc021vsy.1	-	157	32209	c.31984C>T	c.(31984-31986)Ccc>Tcc	p.P10662S	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc010fre.1_Intron|TTN_uc002umw.1_5'Flank|TTN_uc002umx.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	11589	Glu-rich.|Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.P10662A(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCTTCAGGGGGAGGACTTTCC	0.343000														43			32		0	0	0.005524	0	0
PPM1L	151742	broad.mit.edu	37	3	160783293	160783293	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr3:160783293C>T	uc003fdr.3	+	2	778	c.677C>T	c.(676-678)cCt>cTt	p.P226L	PPM1L_uc003fds.3_Missense_Mutation_p.P47L|PPM1L_uc003fdt.3_Missense_Mutation_p.P99L|PPM1L_uc010hwf.3_Non-coding_Transcript	NM_139245	NP_640338	Q5SGD2	PPM1L_HUMAN	Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1L (PPM1L), mRNA.	226	PP2C-like.				protein dephosphorylation|sphingolipid metabolic process	endoplasmic reticulum membrane|integral to membrane|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			breast(1)|endometrium(1)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13			Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)			AACGCTATTCCTTTGTCTCAT	0.483000														39			29		0	0	0.007291	0	0
ANK3	288	broad.mit.edu	37	10	61831321	61831321	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr10:61831321T>A	uc001jky.3	-	36	9656	c.9318A>T	c.(9316-9318)gaA>gaT	p.E3106D	ANK3_uc001jkw.3_Intron|ANK3_uc009xpa.3_Intron|ANK3_uc001jkx.3_Intron|ANK3_uc010qih.2_Intron|ANK3_uc001jkz.4_Intron|ANK3_uc001jkv.3_Intron|ANK3_uc009xpb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	3106					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						GTATCTCCTTTTCATATTGCT	0.403000														77			50		0	0	0.003610	0	0
ZNF578	147660	broad.mit.edu	37	19	53014536	53014536	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr19:53014536C>T	uc002pzp.4	+	5	1146	c.902C>T	c.(901-903)tCc>tTc	p.S301F		NM_001099694	NP_001093164	Q96N58	ZN578_HUMAN	Homo sapiens zinc finger protein 578 (ZNF578), mRNA.	76					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding								GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		TACAAGTCATCCCTGACATGC	0.418000														60			20		0	0	0.007413	0	0
GAS2	2620	broad.mit.edu	37	11	22833377	22833377	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr11:22833377G>A	uc009yie.3	+	7	1063	c.757G>A	c.(757-759)Gga>Aga	p.G253R	GAS2_uc001mqm.3_Missense_Mutation_p.G253R|GAS2_uc001mqn.3_Non-coding_Transcript|GAS2_uc001mqo.3_Missense_Mutation_p.G253R	NM_001143830	NP_808221	O43903	GAS2_HUMAN	Homo sapiens growth arrest-specific 2 (GAS2), transcript variant 3, mRNA.	253	GAR.				cell cycle arrest|cellular component disassembly involved in apoptosis|regulation of cell shape	actin filament|cytosol|membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(4)|stomach(1)	24						GGTCCGTGTGGGAGGAGGCTG	0.453000														62			28		0	0	0.002445	0	0
CTSF	8722	broad.mit.edu	37	11	66332102	66332102	+	Silent	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr11:66332102G>A	uc001oip.3	-	10	1338	c.1248C>T	c.(1246-1248)atC>atT	p.I416I		NM_003793	NP_003784	Q9UBX1	CATF_HUMAN	Homo sapiens cathepsin F (CTSF), mRNA.	416					proteolysis	lysosome	cysteine-type endopeptidase activity			endometrium(1)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	19						GAGGGCGGGAGATCCCGTGGC	0.627000														6			5		0	0	0.000602	0	0
TFCP2	7024	broad.mit.edu	37	12	51492581	51492581	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr12:51492581A>T	uc001rxw.3	-	12	2118	c.1397T>A	c.(1396-1398)aTt>aAt	p.I466N	TFCP2_uc001rxv.2_Missense_Mutation_p.I466N|TFCP2_uc009zlx.2_Missense_Mutation_p.I415N|TFCP2_uc009zly.1_Missense_Mutation_p.I368N	NM_005653	NP_005644	Q12800	TFCP2_HUMAN	Homo sapiens transcription factor CP2 (TFCP2), transcript variant 1, mRNA.	466					regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	23						GAGCACATGAATTCCTGTTGG	0.433000														33			10		0	0	0.001855	0	0
KIF4B	285643	broad.mit.edu	37	5	154394524	154394524	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr5:154394524C>T	uc010jih.1	+	0	1265	c.1105C>T	c.(1105-1107)Cat>Tat	p.H369Y		NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	Homo sapiens kinesin family member 4B (KIF4B), mRNA.	369					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)			GCTACAAGCCCATGGAGGTAC	0.408000														51			31		0	0	0.004289	0	0
T-Cell_Receptor_V-alpha_region	0	broad.mit.edu	37	14	22409662	22409662	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr14:22409662C>T	uc021rpl.1	+	1	195	c.152C>T	c.(151-153)tCc>tTc	p.S51F	TRA_uc021rpa.1_Intron|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_uc001wck.3_Missense_Mutation_p.S51F					SubName: Full=V-alpha 22; Flags: Precursor; Fragment;																		GGATACCCTTCCCTTTTCTGG	0.502000														25			13		0	0	0.001855	0	0
KRTAP4-11	653240	broad.mit.edu	37	17	39274424	39274424	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr17:39274424G>C	uc002hvz.3	-	0	183	c.144C>G	c.(142-144)agC>agG	p.S48R		NM_033059	NP_149048	Q9BYQ6	KR411_HUMAN	Homo sapiens keratin associated protein 4-11 (KRTAP4-11), mRNA.	48	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		Missing (in allele KAP4.14).			keratin filament		p.S48R(4)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			GCCTGCAGCAGCTGGACACAC	0.672000														31			3		0	0	0.000248	0	0
OR2J3	442186	broad.mit.edu	37	6	29080300	29080300	+	Silent	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr6:29080300C>T	uc011dll.2	+	0	633	c.633C>T	c.(631-633)ctC>ctT	p.L211L		NM_001005216	NP_001005216	O76001	OR2J3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily J, member 3 (OR2J3), mRNA.	211					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24						TATTTGTTCTCATACCTCTCA	0.448000														33			13		0	0	0.001368	0	0
BRPF3	27154	broad.mit.edu	37	6	36168457	36168457	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr6:36168457C>T	uc003olv.4	+	1	582	c.358C>T	c.(358-360)Cgt>Tgt	p.R120C	BRPF3_uc010jwb.3_Missense_Mutation_p.R120C|BRPF3_uc011dtj.2_Non-coding_Transcript|BRPF3_uc010jwc.3_Non-coding_Transcript|BRPF3_uc011dtk.2_Missense_Mutation_p.R120C	NM_015695	NP_056510	Q9ULD4	BRPF3_HUMAN	Homo sapiens bromodomain and PHD finger containing, 3 (BRPF3), mRNA.	120					histone H3 acetylation|platelet activation|platelet degranulation	MOZ/MORF histone acetyltransferase complex|cytosol|extracellular region	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						GCCCAGCTTCCGTATGGTGGA	0.562000														59			19		0	0	0.001216	0	0
ZNF665	79788	broad.mit.edu	37	19	53668429	53668429	+	Silent	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr19:53668429G>A	uc010eqm.1	-	3	1414	c.1314C>T	c.(1312-1314)gcC>gcT	p.A438A		NM_024733	NP_079009	Q9H7R5	ZN665_HUMAN	Homo sapiens zinc finger protein 665 (ZNF665), mRNA.	373					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		GCACACTAAAGGCTTTGCCAC	0.413000														26			23		0	0	0.002780	0	0
DCAF5	8816	broad.mit.edu	37	14	69521269	69521269	+	Silent	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr14:69521269G>A	uc001xkp.3	-	8	2353	c.2134C>T	c.(2134-2136)Cta>Tta	p.L712L	DCAF5_uc001xkq.3_Silent_p.L711L	NM_003861	NP_003852	Q96JK2	DCAF5_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 5 (DCAF5), nuclear gene encoding mitochondrial protein, mRNA.	712						CUL4 RING ubiquitin ligase complex				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|upper_aerodigestive_tract(2)	29						GCTATGTTTAGACAGGCTTCC	0.547000														87			50		0	0	0.003610	0	0
CYP4F3	4051	broad.mit.edu	37	19	15759998	15759998	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr19:15759998G>A	uc010xok.2	+	5	604	c.554G>A	c.(553-555)gGt>gAt	p.G185D	CYP4F3_uc010xol.2_Missense_Mutation_p.G185D|CYP4F3_uc002nbj.3_Missense_Mutation_p.G185D|CYP4F3_uc010xom.2_Missense_Mutation_p.G36D|CYP4F3_uc002nbk.3_Missense_Mutation_p.G185D|CYP4F3_uc010xon.2_5'Flank	NM_001199208	NP_001186137	Q08477	CP4F3_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 3 (CYP4F3), transcript variant 2, mRNA.	185				EGS -> KGY (in Ref. 3; AAC08589).	leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding	p.E184D(2)		endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						GCCTCAGAGGGTAGTGCCCGT	0.557000														45			17		0	0	0.006122	0	0
OR2T12	127064	broad.mit.edu	37	1	248458257	248458257	+	Silent	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr1:248458257G>A	uc010pzj.2	-	0	624	c.624C>T	c.(622-624)ccC>ccT	p.P208P		NM_001004692	NP_001004692	Q8NG77	O2T12_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 12 (OR2T12), mRNA.	208					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	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;0.0201)			TGAGGGAAAAGGGGACCAGGA	0.547000														32			12		0	0	0.002450	0	0
NLRP2	55655	broad.mit.edu	37	19	55495043	55495043	+	Silent	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr19:55495043G>A	uc021vbq.1	+	5	2088	c.1977G>A	c.(1975-1977)aaG>aaA	p.K659K	NLRP2_uc010yfp.2_Silent_p.K636K|NLRP2_uc002qij.3_Silent_p.K659K|NLRP2_uc010esp.3_Silent_p.K637K|NLRP2_uc010esn.3_Silent_p.K635K|NLRP2_uc010eso.3_Silent_p.K656K	NM_001174081	NP_060322	Q9NX02	NALP2_HUMAN	Homo sapiens NLR family, pyrin domain containing 2 (NLRP2), transcript variant 2, mRNA.	659					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)		AGGTAATAAAGGAGAATCTCC	0.473000														32			14		0	0	0.002450	0	0
MS4A1	931	broad.mit.edu	37	11	60233400	60233401	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr11:60233400_60233401GG>AA	uc009yna.3	+	4	670_671	c.343_344GG>AA	c.(343-345)gga>AAa	p.G115K	MS4A1_uc009ymz.3_Missense_Mutation_p.G115K|MS4A1_uc010rlc.2_Intron|MS4A1_uc001npp.3_Missense_Mutation_p.G115K|MS4A1_uc001npq.3_Missense_Mutation_p.G115K	NM_152866	NP_690605	P11836	CD20_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 1 (MS4A1), transcript variant 1, mRNA.	115					B cell activation|immune response	integral to plasma membrane				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24					Ibritumomab(DB00078)|Rituximab(DB00073)|Tositumomab(DB00081)	TCAGGTCAAAGGAAAAATGATA	0.342000														29			6		0	0	0.004672	0	0
FABP2	2169	broad.mit.edu	37	4	120243201	120243201	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr4:120243201C>T	uc003icw.3	-	0	116	c.57G>A	c.(55-57)atG>atA	p.M19I		NM_000134	NP_000125	P12104	FABPI_HUMAN	Homo sapiens fatty acid binding protein 2, intestinal (FABP2), mRNA.	19							fatty acid binding			breast(1)|large_intestine(4)|lung(1)|ovary(1)|pancreas(1)	8						CCATTTTTTCCATGAACTTGT	0.388000														72			45		0	0	0.003610	0	0
GAPVD1	26130	broad.mit.edu	37	9	128086088	128086088	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr9:128086088C>T	uc004bpp.3	+	8	1904	c.1744C>T	c.(1744-1746)Cgc>Tgc	p.R582C	GAPVD1_uc011lzs.1_Missense_Mutation_p.R582C|GAPVD1_uc004bpq.3_Missense_Mutation_p.R582C|GAPVD1_uc010mwx.3_Missense_Mutation_p.R582C|GAPVD1_uc004bpr.3_Missense_Mutation_p.R561C|GAPVD1_uc004bps.3_Missense_Mutation_p.R582C|GAPVD1_uc010mwy.1_Missense_Mutation_p.R441C	NM_015635	NP_056450	Q14C86	GAPD1_HUMAN	Homo sapiens GTPase activating protein and VPS9 domains 1 (GAPVD1), mRNA.	582					endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction	cytosol|endosome|membrane	GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						TCCTTCAAATCGCTCCAATTC	0.423000														10			7		0	0	0.001984	0	0
MYT1	4661	broad.mit.edu	37	20	62871696	62871696	+	Silent	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr20:62871696C>T	uc002yii.3	+	22	3625	c.3261C>T	c.(3259-3261)ttC>ttT	p.F1087F	MYT1_uc002yij.3_Silent_p.F746F	NM_004535	NP_004526	Q01538	MYT1_HUMAN	Homo sapiens myelin transcription factor 1 (MYT1), mRNA.	1087					cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					AACAGAATTTCGATGCCTATG	0.567000														29			9		0	0	0.000673	0	0
ADAMTSL1	92949	broad.mit.edu	37	9	18753299	18753299	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr9:18753299G>A	uc003zne.4	+	15	2162	c.2010G>A	c.(2008-2010)tgG>tgA	p.W670*		NM_001040272	NP_001035362	Q8N6G6	ATL1_HUMAN	Homo sapiens ADAMTS-like 1 (ADAMTSL1), transcript variant 4, mRNA.	670	TSP type-1 6.					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)		TTCTCAGGTGGGAAATTGGCA	0.483000														5			4		0	0	0.000248	0	0
MYLK3	91807	broad.mit.edu	37	16	46766545	46766545	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr16:46766545C>T	uc002eei.4	-	3	1153	c.1037G>A	c.(1036-1038)gGg>gAg	p.G346E	MYLK3_uc010vge.2_Missense_Mutation_p.G5E|MYLK3_uc002eej.1_Missense_Mutation_p.G5E	NM_182493	NP_872299	Q32MK0	MYLK3_HUMAN	Homo sapiens myosin light chain kinase 3 (MYLK3), mRNA.	346					cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis	cytosol	ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				CAGCATCTCCCCAGGAGTATC	0.607000														17			11		0	0	0.001368	0	0
CPSF3	51692	broad.mit.edu	37	2	9595848	9595848	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr2:9595848C>T	uc002qzo.1	+	12	1600	c.1565C>T	c.(1564-1566)cCc>cTc	p.P522L	CPSF3_uc010ewx.1_Missense_Mutation_p.P473L|CPSF3_uc002qzp.1_Missense_Mutation_p.P485L	NM_016207	NP_057291	Q9UKF6	CPSF3_HUMAN	Homo sapiens cleavage and polyadenylation specific factor 3, 73kDa (CPSF3), mRNA.	522					histone mRNA 3'-end processing|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|ribonucleoprotein complex	5'-3' exonuclease activity|RNA binding|endoribonuclease activity|metal ion binding|protein binding	p.P522P(1)		NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;2.39e-25)|all_epithelial(98;8.75e-19)|Lung NSC(108;2.38e-06)|Ovarian(717;0.0308)		all cancers(51;2.2e-40)|Epithelial(75;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(76;4.35e-21)|STAD - Stomach adenocarcinoma(1183;0.00644)		TATACTGGTCCCTTTAATTTG	0.383000														43			16		0	0	0.007413	0	0
SCN3B	55800	broad.mit.edu	37	11	123513367	123513367	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr11:123513367G>A	uc001pza.1	-	3	639	c.232C>T	c.(232-234)Cgg>Tgg	p.R78W	SCN3B_uc001pzb.1_Missense_Mutation_p.R78W	NM_001040151	NP_060870	Q9NY72	SCN3B_HUMAN	Homo sapiens sodium channel, voltage-gated, type III, beta (SCN3B), transcript variant 2, mRNA.	78	Ig-like C2-type.				axon guidance	integral to membrane|plasma membrane	voltage-gated sodium channel activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|skin(2)	26		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0227)		TGGCCATTCCGATACTCGTAA	0.582000														15			9		0	0	0.004482	0	0
TMEM200A	114801	broad.mit.edu	37	6	130762860	130762860	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr6:130762860G>A	uc003qcb.3	+	1	3671	c.1293G>A	c.(1291-1293)atG>atA	p.M431I	TMEM200A_uc003qca.3_Missense_Mutation_p.M431I|TMEM200A_uc010kfh.3_Missense_Mutation_p.M431I|TMEM200A_uc010kfi.3_Missense_Mutation_p.M431I|TMEM200A_uc021zfg.1_Missense_Mutation_p.M431I	NM_052913	NP_443145	Q86VY9	T200A_HUMAN	Homo sapiens transmembrane protein 200A (TMEM200A), mRNA.	431						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)		AGGGATATATGAAACTAGAGA	0.453000														34			16		0	0	0.003163	0	0
COL11A1	1301	broad.mit.edu	37	1	103453251	103453251	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr1:103453251C>T	uc001dum.3	-	29	2794	c.2476G>A	c.(2476-2478)Gga>Aga	p.G826R	COL11A1_uc001duk.3_Silent_p.K4K|COL11A1_uc001dul.3_Missense_Mutation_p.G814R|COL11A1_uc001dun.3_Missense_Mutation_p.G775R|COL11A1_uc009weh.3_Missense_Mutation_p.G698R	NM_080629	NP_542196	P12107	COBA1_HUMAN	Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript variant B, mRNA.	814	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)		CCTTTGGGTCCTTCAGGGCCA	0.468000														57			21		0	0	0.001882	0	0
MORC1	27136	broad.mit.edu	37	3	108705741	108705741	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr3:108705741G>A	uc003dxl.3	-	21	2330	c.2243C>T	c.(2242-2244)cCt>cTt	p.P748L	MORC1_uc011bhn.2_Missense_Mutation_p.P727L	NM_014429	NP_055244	Q86VD1	MORC1_HUMAN	Homo sapiens MORC family CW-type zinc finger 1 (MORC1), mRNA.	748					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						GTTTAAAAGAGGAATTTCCTT	0.284000														8			8		0	0	0.003080	0	0
BV13S6J2.1	0	broad.mit.edu	37	7	142180738	142180738	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr7:142180738G>A	uc011krz.2	-	1	170	c.121C>T	c.(121-123)Cag>Tag	p.Q41*	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|BV13S6J2.1_uc011krx.2_Intron|BV13S6J2.1_uc011ksa.2_Nonsense_Mutation_p.Q41*|BV13S6J2.1_uc022anl.1_5'Flank					SubName: Full=V_segment translation product; Flags: Fragment;																		TGGGCACACTGCAGTGTCATG	0.507000														259			22		0	0	0.005443	0	0
KIAA1715	80856	broad.mit.edu	37	2	176856982	176856982	+	Silent	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr2:176856982G>A	uc010fqw.1	-	3	432	c.432C>T	c.(430-432)ctC>ctT	p.L144L	KIAA1715_uc010zes.1_Silent_p.L80L|KIAA1715_uc002ukd.1_Intron|KIAA1715_uc002ukc.1_Silent_p.L78L|KIAA1715_uc010zer.1_Silent_p.L78L|KIAA1715_uc010zet.1_Non-coding_Transcript			Q9C0E8	LNP_HUMAN	Homo sapiens KIAA1715 (KIAA1715), mRNA.	78						integral to membrane	protein binding			endometrium(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)	20			OV - Ovarian serous cystadenocarcinoma(117;0.0793)			CAAAAAATGGGAGTGTCATGG	0.303000														25			5		0	0	0.001168	0	0
USH2A	7399	broad.mit.edu	37	1	216138689	216138689	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr1:216138689G>A	uc001hku.1	-	36	7477	c.7090C>T	c.(7090-7092)Ctt>Ttt	p.L2364F		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	2364	Fibronectin type-III 10.				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)		CCAGTGAAAAGGACTGAGTGT	0.363000										HNSCC(13;0.011)				57			31		0	0	0.003271	0	0
FBXL19	54620	broad.mit.edu	37	16	30941595	30941595	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr16:30941595C>T	uc002eab.2	+	6	1209	c.1051C>T	c.(1051-1053)Cgg>Tgg	p.R351W	FBXL19_uc002dzz.1_Missense_Mutation_p.R39W|FBXL19_uc002eaa.1_Missense_Mutation_p.R250W	NM_001099784	NP_001093254	Q6PCT2	FXL19_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 19 (FBXL19), mRNA.	351							DNA binding|zinc ion binding	p.W350R(1)		breast(2)|endometrium(3)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						CGGCGAGGCCCGGAATGGGCG	0.706000														15			7		0	0	0.003080	0	0
CCDC54	84692	broad.mit.edu	37	3	107096770	107096770	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr3:107096770G>A	uc003dwi.1	+	0	583	c.336G>A	c.(334-336)atG>atA	p.M112I		NM_032600	NP_115989	Q8NEL0	CCD54_HUMAN	Homo sapiens coiled-coil domain containing 54 (CCDC54), mRNA.	112										NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	19						AAACCAGAATGAATGTTAATG	0.373000														20			10		0	0	0.006214	0	0
JAGN1	84522	broad.mit.edu	37	3	9934782	9934782	+	Silent	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr3:9934782C>T	uc003btt.4	+	1	409	c.273C>T	c.(271-273)tcC>tcT	p.S91S	CIDEC_uc003bto.3_Intron	NM_032492	NP_115881	Q8N5M9	JAGN1_HUMAN	Homo sapiens jagunal homolog 1 (Drosophila) (JAGN1), mRNA.	91						endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(4)|lung(3)|ovary(1)	10	Medulloblastoma(99;0.227)					GCCTTCTCTCCTTTCCCCGCA	0.517000														17			14		0	0	0.001855	0	0
ST6GAL2	84620	broad.mit.edu	37	2	107423239	107423239	+	Silent	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr2:107423239C>T	uc002tdq.3	-	5	1604	c.1485G>A	c.(1483-1485)ctG>ctA	p.L495L	ST6GAL2_uc002tdr.3_Silent_p.L495L	NM_001142351	NP_115917	Q96JF0	SIAT2_HUMAN	Homo sapiens ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 (ST6GAL2), transcript variant 2, mRNA.	495					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity	p.R494H(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						TGCCCATGTTCAGGCGCTGCA	0.612000														46			25		0	0	0.004656	0	0
ZNF213	7760	broad.mit.edu	37	16	3188779	3188779	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr16:3188779C>T	uc010uws.2	+	3	1004	c.557C>T	c.(556-558)cCc>cTc	p.P186L	ZNF213_uc002cud.3_Non-coding_Transcript|ZNF213_uc010btf.3_3'UTR|ZNF213_uc010bth.3_Missense_Mutation_p.P186L|ZNF213_uc010uwt.2_Intron	NM_004220	NP_004211	O14771	ZN213_HUMAN	Homo sapiens zinc finger protein 213 (ZNF213), transcript variant 1, mRNA.	186					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	16						GAGGGTCGTCCCGGAGAGACG	0.552000														19			7		0	0	0.001984	0	0
LRP1B	53353	broad.mit.edu	37	2	141458040	141458040	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr2:141458040C>A	uc002tvj.1	-	40	7550	c.6578G>T	c.(6577-6579)gGa>gTa	p.G2193V		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	2193					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)		TATTGTTCTTCCTGAATACAG	0.383000										TSP Lung(27;0.18)				43			21		3.62473e-10	7.06297e-10	0.001882	1	0
CAMK4	814	broad.mit.edu	37	5	110819752	110819752	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr5:110819752C>T	uc003kpf.3	+	10	1245	c.1010C>T	c.(1009-1011)tCg>tTg	p.S337L	CAMK4_uc010jbv.3_Missense_Mutation_p.S140L|CAMK4_uc003kpg.3_Missense_Mutation_p.S28L	NM_001744	NP_001735	Q16566	KCC4_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase IV (CAMK4), mRNA.	337	Calmodulin-binding (Potential).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission	cytosol|nucleoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	30		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)		GTGGCCTCTTCGCGCCTGGGA	0.557000														40			20		0	0	0.001523	0	0
CCKAR	886	broad.mit.edu	37	4	26483532	26483532	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr4:26483532C>T	uc003gse.1	-	4	1168	c.1015G>A	c.(1015-1017)Gac>Aac	p.D339N		NM_000730	NP_000721	P32238	CCKAR_HUMAN	Homo sapiens cholecystokinin A receptor (CCKAR), mRNA.	339					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient	integral to plasma membrane	cholecystokinin receptor activity	p.Y338Y(1)		NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29		Breast(46;0.0503)			Ceruletide(DB00403)	GAGGCGGTGTCGTAGGCCCGC	0.597000														28			12		0	0	0.001368	0	0
KRTAP4-11	653240	broad.mit.edu	37	17	39274319	39274319	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr17:39274319G>C	uc002hvz.3	-	0	288	c.249C>G	c.(247-249)agC>agG	p.S83R		NM_033059	NP_149048	Q9BYQ6	KR411_HUMAN	Homo sapiens keratin associated protein 4-11 (KRTAP4-11), mRNA.	83	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament		p.S83R(2)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			GCTTGCAGCAGCTGGACACAC	0.662000														21			6		0	0	0.003080	0	0
NBPF10	100132406	broad.mit.edu	37	1	144828683	144828683	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr1:144828683C>G	uc009wig.1	+	21	2916	c.2722C>G	c.(2722-2724)Cag>Gag	p.Q908E	NBPF10_uc010oxo.1_Missense_Mutation_p.Q835E|NBPF10_uc010oxn.1_Missense_Mutation_p.Q808E|NBPF10_uc021oth.1_Missense_Mutation_p.Q570E|NBPF10_uc021otj.1_Missense_Mutation_p.Q937E|NBPF10_uc021oto.1_Missense_Mutation_p.Q725E|NBPF10_uc021otr.1_Missense_Mutation_p.Q237E|NBPF10_uc021ots.1_Intron|NBPF10_uc001ekk.1_Missense_Mutation_p.Q481E|NBPF10_uc010oyd.1_Missense_Mutation_p.Q237E|NBPF10_uc010oye.2_Intron|NBPF10_uc001eli.3_Non-coding_Transcript|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron	NM_001037675	NP_001032764	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 9 (NBPF9), mRNA.	910								p.Q577E(1)		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)		ATTTGAGGAACAGCACATCAG	0.438000														152			17		0	0	0.004007	0	0
FAM83B	222584	broad.mit.edu	37	6	54806491	54806491	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr6:54806491C>T	uc003pck.3	+	4	2838	c.2722C>T	c.(2722-2724)Cct>Tct	p.P908S		NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN	Homo sapiens family with sequence similarity 83, member B (FAM83B), mRNA.	908										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					AGTTGTTACCCCTGAAAGAAG	0.463000														43			24		0	0	0.004656	0	0
IL20RA	53832	broad.mit.edu	37	6	137325798	137325798	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr6:137325798C>T	uc003qhj.3	-	5	1257	c.824G>A	c.(823-825)cGa>cAa	p.R275Q	IL20RA_uc011edl.2_Missense_Mutation_p.R226Q|IL20RA_uc003qhk.3_Missense_Mutation_p.R164Q|IL20RA_uc003qhi.3_Missense_Mutation_p.R7Q	NM_014432	NP_055247	Q9UHF4	I20RA_HUMAN	Homo sapiens interleukin 20 receptor, alpha (IL20RA), mRNA.	275						integral to membrane	receptor activity			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000351)|OV - Ovarian serous cystadenocarcinoma(155;0.00459)		GTGGATATATCGGTAGATGGA	0.413000														71			38		0	0	0.007835	0	0
DSC1	1823	broad.mit.edu	37	18	28711671	28711671	+	Silent	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr18:28711671G>A	uc002kwn.3	-	14	2635	c.2373C>T	c.(2371-2373)tcC>tcT	p.S791S	DSC1_uc002kwm.3_Silent_p.S791S|BC042382_uc002kwo.1_Non-coding_Transcript	NM_024421	NP_077739	Q08554	DSC1_HUMAN	Homo sapiens desmocollin 1 (DSC1), transcript variant Dsc1a, mRNA.	791					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)			CTCCTTTGTTGGAATCCAAAG	0.498000														91			49		0	0	0.003610	0	0
CD226	10666	broad.mit.edu	37	18	67531653	67531653	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr18:67531653G>A	uc010dqo.3	-	5	1355	c.908C>T	c.(907-909)cCc>cTc	p.P303L	CD226_uc002lkm.4_Missense_Mutation_p.P303L|CD226_uc021uli.1_Missense_Mutation_p.P148L	NM_006566	NP_006557	Q15762	CD226_HUMAN	Homo sapiens CD226 molecule (CD226), mRNA.	303					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)				GGTAGAGATGGGACTTCTATA	0.388000														37			14		0	0	0.002450	0	0
TTN	7273	broad.mit.edu	37	2	179497428	179497428	+	Silent	SNP	G	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr2:179497428G>T	uc021vsy.1	-	183	35826	c.35601C>A	c.(35599-35601)ccC>ccA	p.P11867P	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Silent_p.P5562P|TTN_uc021vta.1_Silent_p.P5495P|TTN_uc021vtb.1_Silent_p.P5370P	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	12794	Glu-rich.|Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGAATGTTTTGGGCTCCCTGG	0.418000														155			6		0.00198382	0.0038302	0.001984	1	0
COL5A3	50509	broad.mit.edu	37	19	10071165	10071165	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr19:10071165C>T	uc002mmq.1	-	66	5246	c.5160G>A	c.(5158-5160)tgG>tgA	p.W1720*		NM_015719	NP_056534	P25940	CO5A3_HUMAN	Homo sapiens collagen, type V, alpha 3 (COL5A3), mRNA.	1720	Fibrillar collagen NC1.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			CCGCCACATCCCACAGGGGCA	0.572000														45			23		0	0	0.003330	0	0
SERPINB8	5271	broad.mit.edu	37	18	61654188	61654188	+	Silent	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr18:61654188C>T	uc002ljv.3	+	6	970	c.801C>T	c.(799-801)ttC>ttT	p.F267F	SERPINB8_uc002lju.3_Silent_p.F267F|SERPINB8_uc010xex.2_Silent_p.F85F	NM_198833	NP_942130	P50452	SPB8_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 8 (SERPINB8), transcript variant 2, mRNA.	267					regulation of proteolysis	cytosol	protein binding|serine-type endopeptidase inhibitor activity			breast(2)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	17		Esophageal squamous(42;0.129)				TTCAAGTTTTCCTTCCCAGAT	0.393000														47			34		0	0	0.002445	0	0
DNAH5	1767	broad.mit.edu	37	5	13811764	13811764	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr5:13811764G>A	uc003jfd.2	-	43	7441	c.7399C>T	c.(7399-7401)Cct>Tct	p.P2467S		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	2467					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.I2466S(1)		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)					ACCTTCAGAGGAATCAGGCCT	0.403000									Kartagener syndrome					33			15		0	0	0.004990	0	0
ADORA3	140	broad.mit.edu	37	1	112042914	112042915	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr1:112042914_112042915CC>TT	uc001ebh.4	-	1	1381_1382	c.614_615GG>AA	c.(613-615)cgg>cAA	p.R205Q	ADORA3_uc001ebg.4_Intron|ADORA3_uc001ebf.3_Intron	NM_000677	NP_000668	P33765	AA3R_HUMAN	Homo sapiens adenosine A3 receptor (ADORA3), transcript variant 2, mRNA.	205					activation of adenylate cyclase activity|inflammatory response|regulation of heart contraction	integral to plasma membrane	adenosine receptor activity, G-protein coupled			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|skin(1)	12		all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156)		all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134)	Adenosine(DB00640)|Aminophylline(DB01223)	TGAGTTTGTTCCGAATGATGTA	0.426000														32			12		0	0	0.004672	0	0
COL3A1	1281	broad.mit.edu	37	2	189859281	189859281	+	Silent	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr2:189859281G>A	uc002uqj.1	+	18	1425	c.1308G>A	c.(1306-1308)aaG>aaA	p.K436K	MIR3606_uc021vtx.1_5'Flank	NM_000090	NP_000081	P02461	CO3A1_HUMAN	Homo sapiens collagen, type III, alpha 1 (COL3A1), mRNA.	436	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)	AGCCTGGTAAGAATGGTGCCA	0.393000														36			19		0	0	0.003330	0	0
SSTR1	6751	broad.mit.edu	37	14	38678944	38678944	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr14:38678944C>A	uc021rsi.1	+	0	350	c.350C>A	c.(349-351)tCc>tAc	p.S117Y	SSTR1_uc001wul.1_Missense_Mutation_p.S117Y	NM_001049	NP_001040	P30872	SSR1_HUMAN	Homo sapiens somatostatin receptor 1 (SSTR1), mRNA.	117					G-protein signaling, coupled to cyclic nucleotide second messenger|digestion|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	somatostatin receptor activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00444)	Octreotide(DB00104)	CTAGTCACCTCCACGTTGTTG	0.577000														95			37		1.62957e-23	3.20063e-23	0.001951	1	0
TCRB	0	broad.mit.edu	37	7	142099569	142099569	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr7:142099569C>T	uc003vyz.1	-	1	233	c.233G>A	c.(232-234)gGg>gAg	p.G78E	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|TCRB_uc022and.1_5'Flank|TCRB_uc022ane.1_Missense_Mutation_p.G78E					SubName: Full=Uncharacterized protein;																		ACTGGGCAGCCCCGATTTGTC	0.532000														35			20		0	0	0.001216	0	0
PKD1L2	114780	broad.mit.edu	37	16	81236314	81236314	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr16:81236314A>G	uc002fgh.1	-	5	934	c.934T>C	c.(934-936)Ttc>Ctc	p.F312L	PKD1L2_uc002fgj.3_Missense_Mutation_p.F312L	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN	Homo sapiens polycystic kidney disease 1-like 2 (PKD1L2), transcript variant 1, mRNA.	312					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						GGAGATGTGAACTGGTGGGTC	0.537000														16			8		0	0	0.003080	0	0
TCEB3C	162699	broad.mit.edu	37	18	44555154	44555154	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr18:44555154C>T	uc010xdb.2	-	0	1296	c.1060G>A	c.(1060-1062)Gac>Aac	p.D354N	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.	354	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						CCTTCCACGTCGCCGAGGGCG	0.662000														396			19		0	0	0.001512	0	0
RNASE11	122651	broad.mit.edu	37	14	21052207	21052207	+	Missense_Mutation	SNP	G	A	A	rs112711544		TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr14:21052207G>A	uc010ahw.3	-	2	763	c.427C>T	c.(427-429)Cct>Tct	p.P143S	RNASE11_uc010ahv.3_Missense_Mutation_p.P143S|RNASE11_uc010ahx.3_Missense_Mutation_p.P143S|RNASE11_uc001vxs.3_Missense_Mutation_p.P143S|RNASE11_uc021rnu.1_Missense_Mutation_p.P143S	NM_145250	NP_660293	Q8TAA1	RNS11_HUMAN	Homo sapiens ribonuclease, RNase A family, 11 (non-active) (RNASE11), mRNA.	143						extracellular region	nucleic acid binding|pancreatic ribonuclease activity	p.P143H(1)		endometrium(1)|large_intestine(6)|lung(7)|ovary(3)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	21	all_cancers(95;0.00238)	all_lung(585;0.235)	Epithelial(56;1.85e-06)|all cancers(55;1.46e-05)	GBM - Glioblastoma multiforme(265;0.0139)		CTTATGCCAGGATTCTGTACA	0.512000														14			12		0	0	0.000978	0	0
MCOLN2	255231	broad.mit.edu	37	1	85405263	85405263	+	Silent	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr1:85405263G>A	uc001dkm.3	-	8	1324	c.1083C>T	c.(1081-1083)tcC>tcT	p.S361S	MCOLN2_uc001dkn.3_Intron	NM_153259	NP_694991	Q8IZK6	MCLN2_HUMAN	Homo sapiens mucolipin 2 (MCOLN2), mRNA.	361						integral to membrane	ion channel activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	18				all cancers(265;0.0111)|Epithelial(280;0.0263)|OV - Ovarian serous cystadenocarcinoma(397;0.217)		TTTTTAATATGGAGCCAATGA	0.463000														27			15		0	0	0.004007	0	0
PHKA1	5255	broad.mit.edu	37	X	71822083	71822083	+	Silent	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chrX:71822083G>A	uc004eax.4	-	26	3259	c.2958C>T	c.(2956-2958)atC>atT	p.I986I	PHKA1_uc004eay.4_Silent_p.I986I|PHKA1_uc011mqi.2_Silent_p.I927I	NM_002637	NP_002628	P46020	KPB1_HUMAN	Homo sapiens phosphorylase kinase, alpha 1 (muscle) (PHKA1), transcript variant 1, mRNA.	986					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					CAATCTCGTGGATAGAAATAG	0.413000														11			13		0	0	0.004990	0	0
NPY2R	4887	broad.mit.edu	37	4	156135297	156135297	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr4:156135297C>T	uc003ioq.3	+	1	695	c.206C>T	c.(205-207)tCc>tTc	p.S69F	NPY2R_uc003ior.3_Missense_Mutation_p.S69F|NPY2R_uc021xtm.1_Missense_Mutation_p.S69F	NM_000910	NP_000901	P49146	NPY2R_HUMAN	Homo sapiens neuropeptide Y receptor Y2 (NPY2R), mRNA.	69					cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis	integral to plasma membrane	calcium channel regulator activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36	all_hematologic(180;0.24)	Renal(120;0.0854)				ATTGGCAACTCCTTGGTGATC	0.453000														39			15		0	0	0.002450	0	0
MUC16	94025	broad.mit.edu	37	19	9014698	9014698	+	Silent	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr19:9014698C>T	uc002mkp.3	-	30	38481	c.38277G>A	c.(38275-38277)gaG>gaA	p.E12759E	MUC16_uc021uog.1_5'Flank	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	12761	SEA 5.			Missing (in Ref. 3; AAK74120).	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						CTCCATCCTTCTCGGACCTGA	0.532000														25			11		0	0	0.004007	0	0
CELA3B	23436	broad.mit.edu	37	1	22336293	22336293	+	Silent	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr1:22336293C>T	uc001bfl.3	+	6	757	c.738C>T	c.(736-738)ttC>ttT	p.F246F		NM_005747	NP_005738	P08861	CEL3B_HUMAN	Homo sapiens chymotrypsin-like elastase family, member 3A (CELA3A), mRNA.	246	Peptidase S1.				cholesterol metabolic process|proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	8						GCTGCAACTTCATCTGGAAGC	0.612000														32			15		0	0	0.002450	0	0
ST3GAL6	10402	broad.mit.edu	37	3	98506933	98506934	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr3:98506933_98506934CC>TT	uc003dtc.3	+	7	952_953	c.485_486CC>TT	c.(484-486)acc>aTT	p.T162I	ST3GAL6_uc003dsy.3_Missense_Mutation_p.T76I|ST3GAL6_uc003dsz.3_Missense_Mutation_p.T162I|ST3GAL6_uc003dta.3_Missense_Mutation_p.T44I|ST3GAL6_uc010hpd.3_Missense_Mutation_p.T215I	NM_006100	NP_006091	Q9Y274	SIA10_HUMAN	Homo sapiens ST3 beta-galactoside alpha-2,3-sialyltransferase 6 (ST3GAL6), mRNA.	162					amino sugar metabolic process|glycolipid metabolic process|protein glycosylation|protein lipoylation	integral to Golgi membrane	sialyltransferase activity			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(1)	19						AGAAGGACAACCTTCCGACTTT	0.371000														20			6		0	0	0.004672	0	0
ACTRT2	140625	broad.mit.edu	37	1	2938752	2938752	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr1:2938752C>T	uc001ajz.3	+	0	707	c.502C>T	c.(502-504)Ccc>Tcc	p.P168S		NM_080431	NP_536356	Q8TDY3	ACTT2_HUMAN	Homo sapiens actin-related protein T2 (ACTRT2), mRNA.	168						cytoplasm|cytoskeleton				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)		CTGCACTGTCCCCATCTTTGA	0.657000														30			12		0	0	0.001855	0	0
FAM71A	149647	broad.mit.edu	37	1	212799772	212799772	+	RNA	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr1:212799772G>A	uc010pth.1	-	0		c.342C>T			FAM71A_uc001hjk.3_Missense_Mutation_p.G518D			Q8IYT1	FA71A_HUMAN	Homo sapiens cDNA FLJ40118 fis, clone TESTI2009412.											breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)		ACCAGTTCCGGTTCCAGCAAG	0.542000														37			20		0	0	0.001216	0	0
OR2F1	26211	broad.mit.edu	37	7	143657942	143657942	+	Silent	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr7:143657942G>A	uc003wds.1	+	0	923	c.879G>A	c.(877-879)agG>agA	p.R293R		NM_012369	NP_036501	Q13607	OR2F1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily F, member 1 (OR2F1), mRNA.	293					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4)	34	Melanoma(164;0.0903)					ACAGCCTAAGGAATAAAGAGG	0.443000														29			15		0	0	0.003163	0	0
KCNA6	3742	broad.mit.edu	37	12	4920426	4920426	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr12:4920426C>T	uc001qng.3	+	0	2085	c.1219C>T	c.(1219-1221)Ccc>Tcc	p.P407S	KCNA6_uc021qtr.1_Missense_Mutation_p.P407S	NM_002235	NP_002226	P17658	KCNA6_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 6 (KCNA6), mRNA.	407						voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.F406F(1)		NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49						TTCGCTTTTTCCCAGCATCCC	0.572000										HNSCC(72;0.22)				61			20		0	0	0.002780	0	0
TMEM40	55287	broad.mit.edu	37	3	12785412	12785412	+	Silent	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr3:12785412C>T	uc011auv.1	-	3	503	c.336G>A	c.(334-336)ggG>ggA	p.G112G	TMEM40_uc003bxg.1_Silent_p.G96G|TMEM40_uc003bxh.1_Intron	NM_018306	NP_060776	Q8WWA1	TMM40_HUMAN	Homo sapiens transmembrane protein 40 (TMEM40), mRNA.	96						integral to membrane				breast(1)|large_intestine(3)|lung(5)|urinary_tract(1)	10						GTGAGCCGTTCCCGTGGGGGT	0.542000														26			9		0	0	0.006214	0	0
TTN	7273	broad.mit.edu	37	2	179577529	179577529	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr2:179577529C>T	uc021vsy.1	-	90	23716	c.23491G>A	c.(23491-23493)Gaa>Aaa	p.E7831K	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.E4492K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	8758	Ig-like 60.						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)			AACTCCAGTTCAGCAACTGAA	0.428000														26			15		0	0	0.003163	0	0
TTN	7273	broad.mit.edu	37	2	179576810	179576810	+	Silent	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr2:179576810C>T	uc021vsy.1	-	92	24240	c.24015G>A	c.(24013-24015)acG>acA	p.T8005T	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.T4666T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	8932	Ig-like 62.						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)			TTTTGTAAGTCGTAGTGGGTC	0.403000														36			16		0	0	0.003163	0	0
SCPEP1	59342	broad.mit.edu	37	17	55062798	55062798	+	Silent	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr17:55062798C>T	uc002iuv.4	+	2	338	c.285C>T	c.(283-285)gaC>gaT	p.D95D	SCPEP1_uc010dcl.3_Non-coding_Transcript|SCPEP1_uc010wnk.2_Silent_p.D45D	NM_021626	NP_067639	Q9HB40	RISC_HUMAN	Homo sapiens serine carboxypeptidase 1 (SCPEP1), mRNA.	95					proteolysis	extracellular region	serine-type carboxypeptidase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	14	Breast(9;2.86e-08)					GGCCCCTTGACAGTGATCTCA	0.512000														19			36		0	0	0.002522	0	0
LILRB1	10859	broad.mit.edu	37	19	55145105	55145105	+	Silent	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr19:55145105C>T	uc002qgj.3	+	8	1618	c.1278C>T	c.(1276-1278)ccC>ccT	p.P426P	LILRB1_uc010erp.1_Intron|LILRB1_uc002qgl.3_Silent_p.P426P|LILRB1_uc002qgk.3_Silent_p.P426P|LILRB1_uc002qgm.3_Silent_p.P426P|LILRB1_uc010erq.3_Intron|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.	426					regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		CTGGGGGCCCCAGCTCCCCGA	0.607000										HNSCC(37;0.09)				14			6		0	0	0.003080	0	0
ZNF765	91661	broad.mit.edu	37	19	53905318	53905318	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr19:53905318G>A	uc010ydx.2	+	5	343	c.16_splice	c.e5-1	p.G6_splice	ZNF765_uc002qbm.3_Splice_Site_p.G6_splice|ZNF765_uc002qbn.3_Splice_Site	NM_001040185	NP_001035275	Q7L2R6	ZN765_HUMAN	Homo sapiens zinc finger protein 765 (ZNF765), mRNA.	6					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|lung(3)	4				GBM - Glioblastoma multiforme(134;0.00379)		TTCATTTCAGGGTCTATTGAC	0.433000														67			21		0	0	0.003954	0	0
TPTE	7179	broad.mit.edu	37	21	10916422	10916422	+	Silent	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr21:10916422G>A	uc002yip.1	-	19	1592	c.1224C>T	c.(1222-1224)ctC>ctT	p.L408L	TPTE_uc002yis.1_Intron|TPTE_uc002yiq.1_Silent_p.L390L|TPTE_uc002yir.1_Silent_p.L370L|TPTE_uc010gkv.1_Silent_p.L270L	NM_199261	NP_954870	P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA.	408					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.R408H(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)		GTCTTGGAGGGAGATTCCAGT	0.363000														146			10		0	0	0.004007	0	0
SLCO2A1	6578	broad.mit.edu	37	3	133661584	133661584	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr3:133661584C>T	uc003eqa.4	-	10	1764	c.1490G>A	c.(1489-1491)gGg>gAg	p.G497E	SLCO2A1_uc011blv.2_Missense_Mutation_p.G316E	NM_005630	NP_005621	Q92959	SO2A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 2A1 (SLCO2A1), mRNA.	497					sodium-independent organic anion transport	integral to plasma membrane|membrane fraction	prostaglandin transmembrane transporter activity|protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30						AGCGGATCCCCCGGTCACACA	0.527000														59			16		0	0	0.006122	0	0
PARN	5073	broad.mit.edu	37	16	14676080	14676080	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr16:14676080A>G	uc010uzd.2	-	16	1296	c.1150T>C	c.(1150-1152)Tac>Cac	p.Y384H	PARN_uc010uzc.2_Missense_Mutation_p.Y323H|PARN_uc010uze.2_Missense_Mutation_p.Y338H|PARN_uc010uzf.2_Missense_Mutation_p.Y209H	NM_002582	NP_001127949	O95453	PARN_HUMAN	Homo sapiens poly(A)-specific ribonuclease (PARN), transcript variant 1, mRNA.	384					RNA modification|female gamete generation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening	cytosol|nucleolus	mRNA 3'-UTR binding|metal ion binding|nucleotide binding|poly(A)-specific ribonuclease activity|protein binding			cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|urinary_tract(1)	21						CCTGTGATGTAGGCATCGTAG	0.448000														116			57		0	0	0.003610	0	0
TAS1R1	80835	broad.mit.edu	37	1	6634815	6634815	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr1:6634815G>A	uc001ant.3	+	2	719	c.623G>A	c.(622-624)tGg>tAg	p.W208*	TAS1R1_uc001anu.3_Intron|TAS1R1_uc021ofp.1_Nonsense_Mutation_p.W130*	NM_138697	NP_619642	Q7RTX1	TS1R1_HUMAN	Homo sapiens taste receptor, type 1, member 1 (TAS1R1), transcript variant 2, mRNA.	208					sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2)	29	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		AAGTTCGGGTGGACCTGGATC	0.587000														23			14		0	0	0.002450	0	0
TMEM159	57146	broad.mit.edu	37	16	21181806	21181806	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr16:21181806C>T	uc010vbf.2	+	3	471	c.217C>T	c.(217-219)Ccg>Tcg	p.P73S	TMEM159_uc002dih.4_Missense_Mutation_p.P49S|TMEM159_uc002dif.4_Missense_Mutation_p.P49S|TMEM159_uc002dig.4_Non-coding_Transcript	NM_020422	NP_065155	Q96B96	TM159_HUMAN	Homo sapiens transmembrane protein 159 (TMEM159), mRNA.	49						integral to membrane				large_intestine(3)|lung(2)|ovary(1)	6				GBM - Glioblastoma multiforme(48;0.0972)		GGACAGCCATCCGTTTCTGGC	0.537000														94			46		0	0	0.003610	0	0
GRM6	2916	broad.mit.edu	37	5	178417600	178417600	+	Silent	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr5:178417600G>A	uc003mjr.3	-	3	1184	c.1005C>T	c.(1003-1005)tcC>tcT	p.S335S	GRM6_uc010jla.1_5'Flank|GRM6_uc003mjs.1_5'Flank	NM_000843	NP_000834	O15303	GRM6_HUMAN	Homo sapiens glutamate receptor, metabotropic 6 (GRM6), mRNA.	335					detection of visible light|visual perception	integral to plasma membrane				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		CACCGTCGATGGAGGCCCTTT	0.622000														19			7		0	0	0.006214	0	0
UGT2B28	54490	broad.mit.edu	37	4	70146570	70146570	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr4:70146570G>A	uc003hej.3	+	0	354	c.352G>A	c.(352-354)Gaa>Aaa	p.E118K	UGT2B28_uc010ihr.3_Missense_Mutation_p.E118K	NM_053039	NP_444267	Q9BY64	UDB28_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B28 (UGT2B28), transcript variant 1, mRNA.	118					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)	AATCCTGTGGGAATTTCATGA	0.299000														67			35		0	0	0.003271	0	0
MTMR11	10903	broad.mit.edu	37	1	149902774	149902774	+	Silent	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr1:149902774G>A	uc001etl.4	-	13	1625	c.1374C>T	c.(1372-1374)ttC>ttT	p.F458F	SF3B4_uc001etk.2_5'Flank|SF3B4_uc009wll.1_5'Flank|MTMR11_uc001etm.2_Silent_p.F386F|MTMR11_uc010pbm.1_3'UTR|MTMR11_uc010pbn.1_3'UTR	NM_001145862	NP_001139334	A4FU01	MTMRB_HUMAN	Homo sapiens myotubularin related protein 11 (MTMR11), transcript variant 1, mRNA.	458	Myotubularin phosphatase.						phosphatase activity	p.F386F(1)|p.F458F(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4)	34	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			GAGCAAGAAGGAAAAACTCAG	0.493000														34			16		0	0	0.004007	0	0
FBXO11	80204	broad.mit.edu	37	2	48050434	48050434	+	Silent	SNP	A	G	G			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr2:48050434A>G	uc002rwe.3	-	11	1537	c.1464T>C	c.(1462-1464)gcT>gcC	p.A488A	FBXO11_uc010fbl.3_Silent_p.A404A|FBXO11_uc002rwg.2_Silent_p.A488A|FBXO11_uc010fbk.3_5'UTR|FBXO11_uc021vhe.1_Silent_p.A288A	NM_001190274	NP_001177203	Q86XK2	FBX11_HUMAN	Homo sapiens F-box protein 11 (FBXO11), transcript variant 4, mRNA.	488					ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|ubiquitin ligase complex	protein binding|protein-arginine N-methyltransferase activity|ubiquitin-protein ligase activity|zinc ion binding	p.0?(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			CTGTAGGGTTAGCATAGGCTT	0.363000			"""Mis, F, D"""		DLBCL									23			14		0	0	0.001855	0	0
FAT3	120114	broad.mit.edu	37	11	92525957	92525957	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr11:92525957C>T	uc001pdj.4	+	7	4653	c.4636C>T	c.(4636-4638)Cga>Tga	p.R1546*		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	1546	Cadherin 14.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GTTTCCTTATCGAAGAAACTT	0.418000										TCGA Ovarian(4;0.039)				315			123		0	0	0.003610	0	0
OR2A5	393046	broad.mit.edu	37	7	143747527	143747527	+	Silent	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr7:143747527C>T	uc011ktw.2	+	0	33	c.33C>T	c.(31-33)ttC>ttT	p.F11F		NM_012365	NP_036497	Q96R48	OR2A5_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 5 (OR2A5), mRNA.	11					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38	Melanoma(164;0.0783)					TCACAGAATTCATTCTCCTGG	0.502000														68			28		0	0	0.002096	0	0
ENC1	8507	broad.mit.edu	37	5	73931133	73931133	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr5:73931133A>G	uc003kdc.4	-	1	2309	c.1178T>C	c.(1177-1179)gTt>gCt	p.V393A	ENC1_uc011css.2_Missense_Mutation_p.V320A|ENC1_uc021yao.1_Missense_Mutation_p.V393A	NM_003633	NP_003624	O14682	ENC1_HUMAN	Homo sapiens ectodermal-neural cortex 1 (with BTB-like domain) (ENC1), mRNA.	393					nervous system development	cytoplasm|cytoskeleton|nuclear matrix	actin binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	20		all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.45e-59)		GTGCCCCCCAACCACATACAG	0.577000														44			20		0	0	0.001523	0	0
PRR15L	79170	broad.mit.edu	37	17	46030478	46030479	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr17:46030478_46030479CC>TT	uc002imp.3	-	1	239_240	c.122_123GG>AA	c.(121-123)agg>aAA	p.R41K	PRR15L_uc021tzd.1_Missense_Mutation_p.R41K	NM_024320	NP_077296	Q9BU68	PR15L_HUMAN	Homo sapiens proline rich 15-like (PRR15L), mRNA.	41										NS(1)|cervix(1)|ovary(1)|pancreas(1)	4						CAGCGTCAGGCCTCGGGGGTTC	0.545000														52			90		0	0	0.004672	0	0
ARHGEF17	9828	broad.mit.edu	37	11	73064052	73064052	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr11:73064052C>T	uc001otu.3	+	2	3469	c.3448C>T	c.(3448-3450)Cag>Tag	p.Q1150*		NM_014786	NP_055601	Q96PE2	ARHGH_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 17 (ARHGEF17), mRNA.	1150	DH.				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						CCTGCTCGTCCAGTCGGTGAG	0.662000														23			14		0	0	0.002450	0	0
KIAA0319	9856	broad.mit.edu	37	6	24596214	24596214	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr6:24596214G>A	uc011djo.2	-	2	1188	c.688C>T	c.(688-690)Cct>Tct	p.P230S	KIAA0319_uc011djp.2_Missense_Mutation_p.P185S|KIAA0319_uc003neh.1_Missense_Mutation_p.P230S|KIAA0319_uc011djq.1_Missense_Mutation_p.P221S|KIAA0319_uc011djr.1_Missense_Mutation_p.P230S	NM_001168375	NP_001161848	Q5VV43	K0319_HUMAN	Homo sapiens KIAA0319 (KIAA0319), transcript variant 2, mRNA.	230					negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding	p.P230H(1)		breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						CTTCTCTCAGGGAGTTTTGGG	0.552000														12			9		0	0	0.004482	0	0
PSG2	5670	broad.mit.edu	37	19	43586677	43586677	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr19:43586677C>T	uc002ovr.3	-	0	217	c.45G>A	c.(43-45)tgG>tgA	p.W15*	PSG4_uc010xwk.1_Intron	NM_031246	NP_112536	P11465	PSG2_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 2 (PSG2), mRNA.	15					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)				GGAGCCCCTTCCATTTGATGT	0.577000														89			43		0	0	0.003610	0	0
SULT1A2	6799	broad.mit.edu	37	16	28603753	28603753	+	Silent	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr16:28603753C>T	uc002dqg.2	-	6	957	c.606G>A	c.(604-606)agG>agA	p.R202R	NPIPL1_uc010vct.2_Intron|SULT1A2_uc002dqh.2_Silent_p.R202R	NM_177528	NP_803564	P50226	ST1A2_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 1A, phenol-preferring, member 2 (SULT1A2), transcript variant 2, mRNA.	202					3'-phosphoadenosine 5'-phosphosulfate metabolic process|amine biosynthetic process|catecholamine metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process	cytosol	aryl sulfotransferase activity|flavonol 3-sulfotransferase activity			NS(2)|breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|skin(2)	14						TTTGAATCTCCCTTTTGGGGT	0.522000														45			7		0	0	0.001984	0	0
PCDH18	54510	broad.mit.edu	37	4	138442417	138442417	+	Silent	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr4:138442417G>A	uc003ihe.4	-	3	3561	c.3174C>T	c.(3172-3174)gcC>gcT	p.A1058A	PCDH18_uc003ihf.4_Silent_p.A1050A|PCDH18_uc011cgz.2_Silent_p.A269A|PCDH18_uc003ihg.4_Silent_p.A837A|PCDH18_uc011cha.2_Silent_p.A238A	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	Homo sapiens protocadherin 18 (PCDH18), mRNA.	1058	Interaction with DAB1 (By similarity).				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)					AATGCGTACTGGCTGCCCATG	0.577000														20			16		0	0	0.004990	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110394709	110394709	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr8:110394709C>T	uc003yne.3	+	3	430	c.326C>T	c.(325-327)tCc>tTc	p.S109F		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	109	IPT/TIG 1.				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)			CCGGAAGATTCCTACACTGTT	0.398000										HNSCC(38;0.096)				74			29		0	0	0.001512	0	0
TMEM132D	121256	broad.mit.edu	37	12	130015650	130015650	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr12:130015650G>A	uc009zyl.1	-	2	1397	c.1069C>T	c.(1069-1071)Cca>Tca	p.P357S		NM_133448	NP_597705	Q14C87	T132D_HUMAN	Homo sapiens transmembrane protein 132D (TMEM132D), mRNA.	357						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		ATGACAGCTGGTGCATACTTT	0.512000														44			27		0	0	0.003954	0	0
DHX37	57647	broad.mit.edu	37	12	125465048	125465048	+	Silent	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr12:125465048G>A	uc001ugy.3	-	3	825	c.726C>T	c.(724-726)tcC>tcT	p.S242S		NM_032656	NP_116045	Q8IY37	DHX37_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 37 (DHX37), mRNA.	242							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		GCATTTCCGGGGAGCGGTTCA	0.642000														23			18		0	0	0.007413	0	0
ZNF28	7576	broad.mit.edu	37	19	53303281	53303281	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr19:53303281G>A	uc002qad.3	-	3	1974	c.1817C>T	c.(1816-1818)cCt>cTt	p.P606L	ZNF28_uc002qac.3_Missense_Mutation_p.P552L|ZNF28_uc010eqe.3_Missense_Mutation_p.P552L|ZNF28_uc021uza.1_Missense_Mutation_p.P553L	NM_006969	NP_008900	P17035	ZNF28_HUMAN	Homo sapiens zinc finger protein 28 (ZNF28), transcript variant 1, mRNA.	606					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		ACACTTGTAAGGTTTCTCTCC	0.443000														112			39		0	0	0.004289	0	0
PTGS2	5743	broad.mit.edu	37	1	186644398	186644398	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr1:186644398G>A	uc001gsb.3	-	8	1525	c.1388C>T	c.(1387-1389)tCa>tTa	p.S463L	PTGS2_uc009wyo.3_Missense_Mutation_p.S310L	NM_000963	NP_000954	P35354	PGH2_HUMAN	Homo sapiens prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase) (PTGS2), mRNA.	463					cellular component movement|cyclooxygenase pathway|hormone biosynthetic process|positive regulation of brown fat cell differentiation|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of fever generation|positive regulation of fibroblast growth factor production|positive regulation of nitric oxide biosynthetic process|positive regulation of platelet-derived growth factor production|positive regulation of prostaglandin biosynthetic process|positive regulation of transforming growth factor-beta production|positive regulation vascular endothelial growth factor production|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome|neuron projection|nucleus	enzyme binding|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			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Carprofen(DB00821)|Celecoxib(DB00482)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Epoprostenol(DB01240)|Etodolac(DB00749)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Valdecoxib(DB00580)|gamma-Homolinolenic acid(DB00154)	TTCTTCAAATGATTCATAGGG	0.373000														49			23		0	0	0.002780	0	0
ZC3H7B	23264	broad.mit.edu	37	22	41721867	41721867	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr22:41721867C>T	uc003azw.3	+	3	446	c.230C>T	c.(229-231)cCc>cTc	p.P77L	ZC3H7B_uc003azv.1_Missense_Mutation_p.P77L	NM_017590	NP_060060	Q9UGR2	Z3H7B_HUMAN	Homo sapiens zinc finger CCCH-type containing 7B (ZC3H7B), mRNA.	77					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						GTGGCCCTGCCCCGGGAGCTG	0.592000														10			4		0	0	0.000248	0	0
YIPF7	285525	broad.mit.edu	37	4	44638057	44638057	+	Silent	SNP	T	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr4:44638057T>A	uc021xnx.1	-	2	251	c.234A>T	c.(232-234)tcA>tcT	p.S78S	YIPF7_uc010ify.2_Silent_p.S78S	NM_182592	NP_872398	Q8N8F6	YIPF7_HUMAN	Homo sapiens Yip1 domain family, member 7 (YIPF7), mRNA.	78						endoplasmic reticulum membrane|integral to membrane				breast(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(1)	12						TGAGCATCTCTGATGGAACAA	0.393000														34			12		0	0	0.002450	0	0
ERLIN1	10613	broad.mit.edu	37	10	101937916	101937916	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr10:101937916A>C	uc001kqn.4	-	3	629	c.278T>G	c.(277-279)gTg>gGg	p.V93G	ERLIN1_uc001kqo.4_Missense_Mutation_p.V93G|ERLIN1_uc010qpm.2_Missense_Mutation_p.V9G	NM_006459	NP_006450	O75477	ERLN1_HUMAN	Homo sapiens ER lipid raft associated 1 (ERLIN1), mRNA.	91					ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane	protein binding						Colorectal(252;0.234)		Epithelial(162;3.85e-10)|all cancers(201;3.25e-08)		CATATTAACCACTTCTATTCG	0.358000														8			3		0	0	0.004672	0	0
C1orf173	127254	broad.mit.edu	37	1	75038901	75038901	+	Silent	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr1:75038901G>A	uc001dgg.3	-	13	2712	c.2493C>T	c.(2491-2493)atC>atT	p.I831I		NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	831	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						TGCCTGGAGGGATCTCCCTTT	0.572000														42			19		0	0	0.007413	0	0
BRCA2	675	broad.mit.edu	37	13	32914811	32914811	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr13:32914811C>T	uc001uub.1	+	10	6546	c.6319C>T	c.(6319-6321)Cct>Tct	p.P2107S		NM_000059	NP_000050	P51587	BRCA2_HUMAN	Homo sapiens breast cancer 2, early onset (BRCA2), mRNA.	2107					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)		AAAAATACTTCCTCGTGTTGA	0.333000			"""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)				40			16		0	0	0.003163	0	0
QARS	5859	broad.mit.edu	37	3	49139286	49139286	+	Silent	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr3:49139286C>T	uc003cvx.3	-	7	683	c.678G>A	c.(676-678)ggG>ggA	p.G226G	QARS_uc011bcc.2_5'Flank|QARS_uc011bcd.2_Silent_p.G81G|QARS_uc003cvy.3_Silent_p.G81G|QARS_uc011bce.2_Silent_p.G215G|QARS_uc011bcf.1_Silent_p.G226G	NM_005051	NP_005042	P47897	SYQ_HUMAN	Homo sapiens glutaminyl-tRNA synthetase (QARS), mRNA.	226					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)	TAAGGGCCTCCCCCCGGAGCT	0.552000														8			6		0	0	0.001168	0	0
SCN11A	11280	broad.mit.edu	37	3	38888327	38888327	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr3:38888327C>T	uc021wvy.1	-	25	5433	c.5234G>A	c.(5233-5235)cGa>cAa	p.R1745Q		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	1745					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)	CATGTACTTTCGAAAGGCCTT	0.458000														73			32		0	0	0.003271	0	0
BAI1	575	broad.mit.edu	37	8	143570778	143570778	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr8:143570778C>G	uc003ywm.3	+	14	2793	c.2610C>G	c.(2608-2610)atC>atG	p.I870M		NM_001702	NP_001693	O14514	BAI1_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 1 (BAI1), mRNA.	870					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	p.I870I(2)		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)					CCTTGGAGATCGAGTTTGCCC	0.567000														40			16		0	0	0.003163	0	0
CCKBR	887	broad.mit.edu	37	11	6292024	6292024	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr11:6292024G>A	uc001mcp.3	+	3	1057	c.802G>A	c.(802-804)Ggg>Agg	p.G268R	CCKBR_uc001mcq.3_Missense_Mutation_p.G196R|CCKBR_uc001mcr.3_Missense_Mutation_p.G268R|CCKBR_uc001mcs.3_Missense_Mutation_p.G268R|CCKBR_uc001mct.1_Non-coding_Transcript	NM_176875	NP_795344	P32239	GASR_HUMAN	Homo sapiens cholecystokinin B receptor (CCKBR), mRNA.	268					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception		1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding	p.G267V(1)		NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	AAACCAAGGCGGGCTGCCAGG	0.632000														24			14		0	0	0.006122	0	0
TGM1	7051	broad.mit.edu	37	14	24729713	24729713	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr14:24729713G>A	uc001wod.3	-	3	824	c.700C>T	c.(700-702)Cag>Tag	p.Q234*	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.	234					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)	AAGGGCAACTGGAACTCCCCA	0.577000														42			11		0	0	0.001368	0	0
NEB	4703	broad.mit.edu	37	2	152497000	152497000	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr2:152497000C>T	uc021vrb.1	-	58	8583	c.8554G>A	c.(8554-8556)Gtg>Atg	p.V2852M	NEB_uc002txu.3_Missense_Mutation_p.V2852M|NEB_uc021vrc.1_Missense_Mutation_p.V2852M|NEB_uc010fnx.3_Missense_Mutation_p.V2852M|NEB_uc021vrd.1_Missense_Mutation_p.V2852M	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	2852					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle	p.V2852V(1)		NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GCCAGCACCACCCCCAGCATG	0.562000														163			90		0	0	0.003610	0	0
KIR3DL2	3812	broad.mit.edu	37	19	55349240	55349240	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr19:55349240C>T	uc002qhm.1	+	2	326	c.280C>T	c.(280-282)Ctt>Ttt	p.L94F	KIR3DL2_uc010yfj.2_Missense_Mutation_p.L87F|KIR3DL2_uc010yfk.1_Non-coding_Transcript|KIR3DL2_uc002qhl.4_Intron|KIR3DL2_uc010esg.1_Missense_Mutation_p.L94F|KIR3DL2_uc002qhn.1_Missense_Mutation_p.L41F	NM_012314	NP_036446	P43630	KI3L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 4 (KIR2DS4), mRNA.	189	Ig-like C2-type 1.				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)		GATGCCTGTCCTTGCAGGAAC	0.517000														152			83		0	0	0.003610	0	0
CHRM3	1131	broad.mit.edu	37	1	240071792	240071792	+	Silent	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr1:240071792G>A	uc021plc.1	+	0	1041	c.1041G>A	c.(1039-1041)gaG>gaA	p.E347E	CHRM3_uc001hyp.3_Silent_p.E347E	NM_000740	NP_000731	P20309	ACM3_HUMAN	Homo sapiens cholinergic receptor, muscarinic 3 (CHRM3), mRNA.	347					cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity	p.L346L(1)		breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)	CCTCCCTGGAGAACTCCGCCT	0.572000														11			6		0	0	0.001168	0	0
ADAM7	8756	broad.mit.edu	37	8	24304772	24304772	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr8:24304772C>T	uc003xeb.3	+	2	343	c.230C>T	c.(229-231)tCc>tTc	p.S77F	ADAM7_uc003xea.1_Missense_Mutation_p.S77F	NM_003817	NP_003808	Q9H2U9	ADAM7_HUMAN	Homo sapiens ADAM metallopeptidase domain 7 (ADAM7), mRNA.	77					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)		CTTCTAAGATCCAGGTAAGTT	0.318000														23			16		0	0	0.004007	0	0
PHACTR4	65979	broad.mit.edu	37	1	28800500	28800500	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr1:28800500C>T	uc001bpy.3	+	5	1523	c.1288C>T	c.(1288-1290)Cga>Tga	p.R430*	PHACTR4_uc001bpv.1_Non-coding_Transcript|PHACTR4_uc001bpw.3_Nonsense_Mutation_p.R420*|PHACTR4_uc001bpx.3_Nonsense_Mutation_p.R404*	NM_023923	NP_076412	Q8IZ21	PHAR4_HUMAN	Homo sapiens phosphatase and actin regulator 4 (PHACTR4), transcript variant 2, mRNA.	420	Pro-rich.						actin binding|protein phosphatase inhibitor activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)		ACTGCATATTCGAATCCAGCA	0.512000														51			28		0	0	0.006320	0	0
KHDRBS2	202559	broad.mit.edu	37	6	62611168	62611168	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr6:62611168C>A	uc003peg.2	-	4	839	c.592G>T	c.(592-594)Gct>Tct	p.A198S		NM_152688	NP_689901	Q5VWX1	KHDR2_HUMAN	Homo sapiens KH domain containing, RNA binding, signal transduction associated 2 (KHDRBS2), mRNA.	198					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		GCTGTGGGAGCTATTCTGATC	0.408000														41			17		1.99824e-07	3.87322e-07	0.004990	1	0
SLCO1B3	28234	broad.mit.edu	37	12	21054378	21054378	+	Silent	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr12:21054378G>A	uc010sil.2	+	12	1907	c.1842G>A	c.(1840-1842)agG>agA	p.R614R	SLCO1B3_uc001rek.3_Silent_p.R614R|SLCO1B3_uc001rel.3_Silent_p.R614R|SLCO1B3_uc010sim.2_Intron			Q9NPD5	SO1B3_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1B3 (SLCO1B3), mRNA.	614					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)					GGGCTTGTAGGATATATAATT	0.348000														57			32		0	0	0.002836	0	0
BDH1	622	broad.mit.edu	37	3	197238877	197238877	+	Silent	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr3:197238877G>A	uc003fxr.3	-	7	1323	c.921C>T	c.(919-921)acC>acT	p.T307T	BDH1_uc003fxs.3_Silent_p.T307T|BDH1_uc003fxu.3_Silent_p.T307T	NM_203314	NP_976060	Q02338	BDH_HUMAN	Homo sapiens 3-hydroxybutyrate dehydrogenase, type 1 (BDH1), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.	307					cellular lipid metabolic process|ketone body biosynthetic process|ketone body catabolic process	mitochondrial matrix	3-hydroxybutyrate dehydrogenase activity	p.T307T(2)		endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11	all_cancers(143;3.35e-10)|Ovarian(172;0.0418)|Breast(254;0.0437)	Lung NSC(153;0.118)	Epithelial(36;3.52e-24)|all cancers(36;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;2.32e-19)|LUSC - Lung squamous cell carcinoma(58;1.02e-06)|Lung(62;1.34e-06)	GBM - Glioblastoma multiforme(93;0.0977)	NADH(DB00157)	GGGTGGTGGCGGTCAGGGCGT	0.562000														78			51		0	0	0.003610	0	0
PXDNL	137902	broad.mit.edu	37	8	52320808	52320808	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr8:52320808G>A	uc003xqu.4	-	16	3477	c.3376C>T	c.(3376-3378)Ctc>Ttc	p.L1126F	PXDNL_uc003xqt.4_Non-coding_Transcript	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	Homo sapiens peroxidasin homolog (Drosophila)-like (PXDNL), mRNA.	1126					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				GCGGAGAAGAGCCTCTGGGTC	0.577000														71			37		0	0	0.004289	0	0
SLC6A1	6529	broad.mit.edu	37	3	11067563	11067563	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr3:11067563G>A	uc010hdq.3	+	9	1364	c.953_splice	c.e9+1	p.R318_splice		NM_003042	NP_003033	P30531	SC6A1_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, GABA), member 1 (SLC6A1), mRNA.	318					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Cocaine(DB00907)|Tiagabine(DB00906)	ATGTCTACAGGTTTGAGAGGA	0.577000														49			19		0	0	0.001216	0	0
TNIP1	10318	broad.mit.edu	37	5	150436501	150436501	+	Silent	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr5:150436501G>A	uc003lti.3	-	5	694	c.453C>T	c.(451-453)ccC>ccT	p.P151P	TNIP1_uc010jhq.2_Silent_p.P98P|TNIP1_uc010jho.2_Non-coding_Transcript|TNIP1_uc010jhp.2_Silent_p.P98P|TNIP1_uc010jhl.3_Non-coding_Transcript|TNIP1_uc010jhn.3_Silent_p.P151P|TNIP1_uc010jhm.3_Silent_p.P151P|TNIP1_uc010jhr.2_Silent_p.P151P|TNIP1_uc011dco.2_Silent_p.P151P|TNIP1_uc003ltg.3_Silent_p.P98P|TNIP1_uc003ltk.3_Silent_p.P151P|TNIP1_uc003ltj.3_Silent_p.P151P|TNIP1_uc021ygb.1_Silent_p.P151P	NM_006058	NP_006049	Q15025	TNIP1_HUMAN	Homo sapiens TNFAIP3 interacting protein 1 (TNIP1), transcript variant 5, mRNA.	151	Interacts with Nef.		P -> A (in dbSNP:rs2233290).		defense response|glycoprotein biosynthetic process|negative regulation of viral genome replication|translation	cytoplasm|nucleus	protein binding	p.P151A(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(5)|ovary(2)|prostate(2)|skin(3)	23		Medulloblastoma(196;0.0911)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CGTCCTCACGGGGCAGGGGGC	0.667000														16			10		0	0	0.006214	0	0
CNTN4	152330	broad.mit.edu	37	3	3085301	3085301	+	Silent	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr3:3085301C>T	uc003bpc.3	+	22	3063	c.2724C>T	c.(2722-2724)atC>atT	p.I908I	CNTN4_uc021wsg.1_Silent_p.I908I|CNTN4_uc003bpe.3_Silent_p.I580I|CNTN4_uc003bpf.3_Silent_p.I579I|CNTN4_uc003bpg.3_Silent_p.I164I	NM_175607	NP_783302	Q8IWV2	CNTN4_HUMAN	Homo sapiens contactin 4 (CNTN4), transcript variant 1, mRNA.	908	Fibronectin type-III 4.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		CCGGAAACATCATATGGAATT	0.368000														28			11		0	0	0.001368	0	0
LRRC4B	94030	broad.mit.edu	37	19	51022166	51022166	+	Silent	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr19:51022166G>A	uc002pss.3	-	2	941	c.804C>T	c.(802-804)atC>atT	p.I268I		NM_001080457	NP_001073926	Q9NT99	LRC4B_HUMAN	Homo sapiens leucine rich repeat containing 4B (LRRC4B), mRNA.	268						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)		CGTTGCGCTCGATGGTGGCTA	0.652000														37			8		0	0	0.004482	0	0
TACC2	10579	broad.mit.edu	37	10	123987414	123987414	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr10:123987414C>T	uc001lfv.3	+	13	8147	c.7787C>T	c.(7786-7788)cCa>cTa	p.P2596L	TACC2_uc001lfw.3_Missense_Mutation_p.P742L|TACC2_uc009xzx.3_Missense_Mutation_p.P2551L|TACC2_uc010qtv.2_Missense_Mutation_p.P2600L|TACC2_uc001lfx.3_Missense_Mutation_p.P300L|TACC2_uc001lfy.3_Missense_Mutation_p.P296L|TACC2_uc001lfz.3_Missense_Mutation_p.P674L|TACC2_uc001lga.3_Missense_Mutation_p.P674L|TACC2_uc009xzy.3_Missense_Mutation_p.P686L|TACC2_uc001lgb.3_Missense_Mutation_p.P631L	NM_206862	NP_996744	O95359	TACC2_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA.	2596						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CATCCTGTCCCACGAGGACTG	0.542000														67			24		0	0	0.002780	0	0
PRUNE2	158471	broad.mit.edu	37	9	79259754	79259754	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr9:79259754C>T	uc010mpk.3	-	11	8753	c.8629G>A	c.(8629-8631)Gag>Aag	p.E2877K	PRUNE2_uc011lsk.2_Missense_Mutation_p.E126K|PRUNE2_uc011lsl.2_Missense_Mutation_p.E141K|PRUNE2_uc011lsm.2_Missense_Mutation_p.E142K|PRUNE2_uc004akj.4_Missense_Mutation_p.E331K|PRUNE2_uc022big.1_Non-coding_Transcript|PRUNE2_uc010mpl.1_Missense_Mutation_p.E331K	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	Homo sapiens prune homolog 2 (Drosophila) (PRUNE2), mRNA.	2877					G1 phase|apoptosis|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						CGGTTGTCCTCCCGTTCCTCT	0.512000														12			15		0	0	0.002450	0	0
DAB2IP	153090	broad.mit.edu	37	9	124530806	124530806	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr9:124530806C>T	uc004bln.3	+	9	1778	c.1709C>T	c.(1708-1710)cCc>cTc	p.P570L	DAB2IP_uc004blo.3_Missense_Mutation_p.P474L|DAB2IP_uc004blp.3_Missense_Mutation_p.P25L	NM_032552	NP_115941	Q5VWQ8	DAB2P_HUMAN	Homo sapiens DAB2 interacting protein (DAB2IP), transcript variant 1, mRNA.	598					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						ATCTCCAACCCCGAGACCCTC	0.587000														20			26		0	0	0.003954	0	0
TIE1	7075	broad.mit.edu	37	1	43779520	43779520	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr1:43779520G>A	uc001ciu.3	+	13	2467	c.2290G>A	c.(2290-2292)Gcg>Acg	p.A764T	TIE1_uc010oke.2_Missense_Mutation_p.A719T|TIE1_uc009vwq.3_Missense_Mutation_p.A720T|TIE1_uc010okf.1_Missense_Mutation_p.A409T|TIE1_uc010okg.2_Missense_Mutation_p.A409T	NM_005424	NP_005415	P35590	TIE1_HUMAN	Homo sapiens tyrosine kinase with immunoglobulin-like and EGF-like domains 1 (TIE1), transcript variant 1, mRNA.	764					mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			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)				GCTGATCCTGGCGGTGGTGGG	0.637000														32			16		0	0	0.004007	0	0
MDK	4192	broad.mit.edu	37	11	46405032	46405032	+	Silent	SNP	G	A	A			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr11:46405032G>A	uc001nco.3	+	4	642	c.420G>A	c.(418-420)aaG>aaA	p.K140K	MDK_uc009ykz.1_3'UTR|MDK_uc001ncp.3_Silent_p.K140K|MDK_uc009yla.3_Silent_p.K84K|MDK_uc009ylb.3_Missense_Mutation_p.R59K|MDK_uc001ncq.3_Silent_p.K140K	NM_001012334	NP_002382	P21741	MK_HUMAN	Homo sapiens midkine (neurite growth-promoting factor 2) (MDK), transcript variant 1, mRNA.	140					adrenal gland development|cell differentiation|nervous system development|positive regulation of cell division|response to wounding|signal transduction	extracellular region	growth factor activity|heparin binding			lung(1)	1				GBM - Glioblastoma multiforme(35;0.0252)|Lung(87;0.14)		AGAAAGGGAAGGGAAAGGACT	0.572000											OREG0020943	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		44			11		0	0	0.001368	0	0
CLEC3A	10143	broad.mit.edu	37	16	78062059	78062059	+	Silent	SNP	C	T	T			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr16:78062059C>T	uc002ffh.4	+	1	252	c.171C>T	c.(169-171)gcC>gcT	p.A57A	CLEC3A_uc021tlr.1_5'Flank	NM_005752	NP_005743	O75596	CLC3A_HUMAN	Homo sapiens C-type lectin domain family 3, member A (CLEC3A), transcript variant 1, mRNA.	57					skeletal system development	extracellular region	sugar binding			NS(1)|endometrium(2)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	18						AAGTCAATGCCTTGAAGGAAA	0.478000														43			19		0	0	0.007413	0	0
LRIG3	121227	broad.mit.edu	37	12	59284549	59284549	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr12:59284549G>C	uc001sqr.3	-	3	659	c.413C>G	c.(412-414)cCt>cGt	p.P138R	LRIG3_uc009zqh.3_Missense_Mutation_p.P78R|LRIG3_uc010ssh.2_Non-coding_Transcript	NM_153377	NP_700356	Q6UXM1	LRIG3_HUMAN	Homo sapiens leucine-rich repeats and immunoglobulin-like domains 3 (LRIG3), transcript variant 2, mRNA.	138						integral to membrane		p.L137L(1)	LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			CAGATGTTCAGGGAGTATTTC	0.373000			T	ROS1	NSCLC									30			13		0	0	0.003163	0	0
PTPN18	26469	broad.mit.edu	37	2	131129929	131129934	+	In_Frame_Del	DEL	GACGGG	-	-	rs112040677		TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr2:131129929_131129934delGACGGG	uc002trc.3	+	12	1214_1219	c.1113_1118delGACGGG	c.(1111-1119)cagacgggg>cag	p.TG378del	PTPN18_uc002trb.3_In_Frame_Del_p.TG271del|PTPN18_uc002tre.3_In_Frame_Del_p.TG29del	NM_014369	NP_055184	Q99952	PTN18_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 18 (brain-derived) (PTPN18), transcript variant 1, mRNA.	378				Missing (in Ref. 1; CAA56105).		cytoplasm|nucleus	non-membrane spanning protein tyrosine phosphatase activity	p.T378_G379delTG(2)		endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)	15	Colorectal(110;0.1)					gtgggacgcagacggggacggggacg	0.777													---	4	---	---	2	---					
IFRD2	7866	broad.mit.edu	37	3	50326964	50326964	+	Frame_Shift_Del	DEL	C	-	-			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr3:50326964delC	uc003czb.3	-	9	1191	c.1191delG	c.(1189-1191)ctgfs	p.L397fs	IFRD2_uc011bdp.2_Frame_Shift_Del_p.L295fs	NM_006764	NP_006755	Q12894	IFRD2_HUMAN	Homo sapiens interferon-related developmental regulator 2 (IFRD2), mRNA.	295							binding			breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	14				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		GCAGGCCGTGCAGGCTGGCAG	0.597													---	4	---	---	2	---					
TP53INP1	94241	broad.mit.edu	37	8	95952409	95952411	+	In_Frame_Del	DEL	TCT	-	-			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr8:95952409_95952411delTCT	uc003yhg.3	-	2	534_536	c.150_152delAGA	c.(148-153)gaagag>gag	p.50_51EE>E	TP53INP1_uc003yhh.3_In_Frame_Del_p.50_51EE>E	NM_033285	NP_150601	Q96A56	T53I1_HUMAN	Homo sapiens tumor protein p53 inducible nuclear protein 1 (TP53INP1), transcript variant 1, mRNA.	50	Glu-rich.				apoptosis	PML body		p.E50E(2)		kidney(2)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	9	Breast(36;8.75e-07)					GATGTCCTCCTCTTCTTCTTCTT	0.458													---	383	---	---	9	---					
FRA10AC1	118924	broad.mit.edu	37	10	95459812	95459813	+	Frame_Shift_Del	DEL	CA	-	-			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr10:95459812_95459813delCA	uc001kiz.2	-	1	249_250	c.51_52delTG	c.(49-54)tgtggafs	p.C17fs	FRA10AC1_uc001kiv.2_Non-coding_Transcript|FRA10AC1_uc001kjb.1_Frame_Shift_Del_p.C17fs|FRA10AC1_uc009xuh.1_Frame_Shift_Del_p.C18fs	NM_145246	NP_660289	Q70Z53	F10C1_HUMAN	Homo sapiens fragile site, folic acid type, rare, fra(10)(q23.3) or fra(10)(q24.2) candidate 1 (FRA10AC1), mRNA.	17						nucleus	protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|urinary_tract(1)	14						CTGGATTCTCCACAGCGTTCAT	0.322													---	26	---	---	18	---					
IRAK4	51135	broad.mit.edu	37	12	44166759	44166761	+	In_Frame_Del	DEL	AAC	-	-			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr12:44166759_44166761delAAC	uc001rnu.3	+	5	665_667	c.535_537delAAC	c.(535-537)aacdel	p.N179del	IRAK4_uc001rnt.3_In_Frame_Del_p.N179del|IRAK4_uc001rnx.3_In_Frame_Del_p.N55del|IRAK4_uc001rny.3_In_Frame_Del_p.N55del|IRAK4_uc010sky.1_In_Frame_Del_p.N55del|IRAK4_uc001rnv.3_In_Frame_Del_p.N55del|IRAK4_uc001rnw.3_In_Frame_Del_p.N55del	NM_001114182	NP_001138730	Q9NWZ3	IRAK4_HUMAN	Homo sapiens interleukin-1 receptor-associated kinase 4 (IRAK4), transcript variant 1, mRNA.	179					MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|innate immune response|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity					all_cancers(12;0.00149)	Lung NSC(34;0.0804)|all_lung(34;0.181)		GBM - Glioblastoma multiforme(48;0.04)		TGTCACAAATAACTTTGATGAAC	0.300													---	28	---	---	9	---					
TGDS	23483	broad.mit.edu	37	13	95230979	95230984	+	Splice_Site	DEL	CATACC	-	-			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr13:95230979_95230984delCATACC	uc001vlw.3	-	8	780	c.659_splice	c.e8+1	p.C220_splice		NM_014305	NP_055120	O95455	TGDS_HUMAN	Homo sapiens TDP-glucose 4,6-dehydratase (TGDS), mRNA.	220					cellular metabolic process		coenzyme binding|dTDP-glucose 4,6-dehydratase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8	all_neural(89;0.0684)|Medulloblastoma(90;0.163)					GTAATAATAACATACCATTTCCTGTT	0.282													---	66	---	---	11	---					
MYH11	4629	broad.mit.edu	37	16	15931989	15931989	+	Frame_Shift_Del	DEL	C	-	-			TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr16:15931989delC	uc002ddx.3	-	1	228	c.121delG	c.(121-123)gagfs	p.E41fs	MYH11_uc002ddv.3_Frame_Shift_Del_p.E41fs|MYH11_uc002ddw.3_Frame_Shift_Del_p.E41fs|MYH11_uc002ddy.3_Frame_Shift_Del_p.E41fs|MYH11_uc010bvg.3_5'UTR|MYH11_uc002deb.3_Frame_Shift_Del_p.E41fs	NM_001040114	NP_001035203	P35749	MYH11_HUMAN	Homo sapiens myosin, heavy chain 11, smooth muscle (MYH11), transcript variant SM1B, mRNA.	41	Myosin head-like.				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						CCCTGCTTCTCCGAGGGGACC	0.567			T	CBFB	AML								---	72	---	---	31	---					
APOBR	55911	broad.mit.edu	37	16	28507398	28507424	+	In_Frame_Del	DEL	GGGACAGCCTCAGGAGGGGAGGAGGCC	-	-	rs71657822		TCGA-EE-A2ML-06A-11D-A197-08	TCGA-EE-A2ML-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad3729b-a761-40f8-99f5-987f84710383	7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4	g.chr16:28507398_28507424delGGGACAGCCTCAGGAGGGGAGGAGGCC	uc002dqb.2	+	1	1069_1095	c.1036_1062delGGGACAGCCTCAGGAGGGGAGGAGGCC	c.(1036-1062)gggacagcctcaggaggggaggaggccdel	p.GTASGGEEA355del	NPIPL1_uc010vct.2_Intron|APOBR_uc010byg.2_5'UTR	NM_018690	NP_061160	Q0VD83	APOBR_HUMAN	Homo sapiens apolipoprotein B receptor (APOBR), mRNA.	355	Glu-rich.				cholesterol metabolic process|lipid transport	chylomicron|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle		p.G360E(1)|p.D361D(1)		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						CGGGGAGGCTGGGACAGCCTCAGGAGGGGAGGAGGCCGGGACAGCCT	0.705													---	25	---	---	8	---					
