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
PSG4	5672	broad.mit.edu	37	19	43421896	43421896	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:43421896C>T	uc002ovj.1	-	0	148	c.49G>A	c.(49-51)Ggg>Agg	p.G17R	PSG3_uc002ouf.3_Intron|PSG4_uc010xwk.1_Intron|PSG4_uc002ovg.1_Missense_Mutation_p.G17R	NM_002782	NP_002773	Q00888	PSG4_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 6 (PSG6), transcript variant 1, mRNA.	17					defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				AGCAGGAGCCCCTTCCAGGTG	0.582000														80			29		0	0	0.00209593	0	0
SCN10A	6336	broad.mit.edu	37	3	38793949	38793949	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:38793949G>A	uc003ciq.3	-	10	1516	c.1516C>T	c.(1516-1518)Cat>Tat	p.H506Y		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	506					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	GACCGGAAATGGAACACACTG	0.567000														12			7		0	0	0.000274275	0	0
MCTP1	79772	broad.mit.edu	37	5	94275859	94275859	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:94275859G>A	uc003kkx.2	-	4	1102	c.1102C>T	c.(1102-1104)Cct>Tct	p.P368S	MCTP1_uc003kkv.2_Missense_Mutation_p.P147S|MCTP1_uc003kkw.2_Missense_Mutation_p.P147S|MCTP1_uc003kkz.2_Missense_Mutation_p.P29S	NM_024717	NP_078993	Q6DN14	MCTP1_HUMAN	Homo sapiens multiple C2 domains, transmembrane 1 (MCTP1), transcript variant L, mRNA.	368					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		TCATGGTCAGGATAATGAGGA	0.403000														94			45		0	0	0.00361006	0	0
USP33	23032	broad.mit.edu	37	1	78183733	78183733	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:78183733C>T	uc001dht.3	-	18	2178	c.1831_splice	c.e18-1	p.I611_splice	USP33_uc001dhs.3_Splice_Site_p.I332_splice|USP33_uc001dhu.3_Splice_Site_p.I580_splice|USP33_uc001dhv.3_Splice_Site_p.I416_splice|USP33_uc001dhw.3_Splice_Site_p.I603_splice	NM_015017	NP_963918	Q8TEY7	UBP33_HUMAN	Homo sapiens ubiquitin specific peptidase 33 (USP33), transcript variant 1, mRNA.	611					axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	VCB complex|perinuclear region of cytoplasm	G-protein-coupled receptor binding|cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	44						TGCACAAAATCTAAAAAAGAA	0.308000														52			34		0	0	0.00375469	0	0
SLC4A3	6508	broad.mit.edu	37	2	220502338	220502338	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:220502338C>T	uc002vmo.4	+	16	2861	c.2652C>T	c.(2650-2652)ccC>ccT	p.P884P	SLC4A3_uc002vmp.4_Silent_p.P857P|SLC4A3_uc010fwm.3_Silent_p.P407P|SLC4A3_uc010fwn.1_Silent_p.P366P	NM_201574	NP_963868	P48751	B3A3_HUMAN	Homo sapiens solute carrier family 4, anion exchanger, member 3 (SLC4A3), transcript variant 2, mRNA.	857	Membrane (anion exchange).				bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CGTTCTACCCCCCTGAGGGGG	0.637000														22			8		0	0	0.00307968	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140175450	140175450	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:140175450G>A	uc003lhd.2	+	0	1007	c.901G>A	c.(901-903)Gaa>Aaa	p.E301K	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhc.1_Missense_Mutation_p.E301K|PCDHAC2_uc011czy.2_Missense_Mutation_p.E301K	NM_018905	NP_061728	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 2 (PCDHA2), transcript variant 1, mRNA.	316	Cadherin 3.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CATCTCAGGGGAAATCAGAAC	0.433000														26			12		0	0	0.00185496	0	0
LCA5	167691	broad.mit.edu	37	6	80196870	80196870	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:80196870G>A	uc003piy.3	-	8	2557	c.1945C>T	c.(1945-1947)Caa>Taa	p.Q649*	LCA5_uc003pix.3_Nonsense_Mutation_p.Q649*	NM_181714	NP_859065	Q86VQ0	LCA5_HUMAN	Homo sapiens Leber congenital amaurosis 5 (LCA5), transcript variant 1, mRNA.	649					protein transport	cilium axoneme|microtubule basal body	protein binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	32		all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176)		BRCA - Breast invasive adenocarcinoma(397;0.0657)		TCATGTTCTTGATCTCTGCTG	0.413000														95			37		0	0	0.00148497	0	0
SLC26A9	115019	broad.mit.edu	37	1	205902149	205902149	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:205902149G>A	uc001hdp.3	-	2	303	c.189C>T	c.(187-189)ccC>ccT	p.P63P	SLC26A9_uc001hdq.3_Silent_p.P63P	NM_134325	NP_599152	Q7LBE3	S26A9_HUMAN	Homo sapiens solute carrier family 26, member 9 (SLC26A9), transcript variant 2, mRNA.	63						integral to membrane	chloride channel activity|secondary active sulfate transmembrane transporter activity			NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			TCTTGTACTTGGGGAGCCAGG	0.562000														41			20		0	0	0.00229938	0	0
DPY19L2P1	554236	broad.mit.edu	37	7	35144265	35144265	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:35144265G>A	uc003teq.1	-	17	1950	c.843C>T	c.(841-843)tgC>tgT	p.C281C	DPY19L2P1_uc003tep.1_Non-coding_Transcript|DPY19L2P1_uc010kwz.1_Non-coding_Transcript					Homo sapiens dpy-19-like 2 pseudogene 1 (C. elegans) (DPY19L2P1), non-coding RNA.																		CCTGTCGAGAGCATATCAAGG	0.368000														30			18		0	0	0.00188189	0	0
HERC2	8924	broad.mit.edu	37	15	28436199	28436199	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr15:28436199C>G	uc001zbj.3	-	54	8667	c.8561G>C	c.(8560-8562)gGa>gCa	p.G2854A	HERC2_uc001zbk.1_Missense_Mutation_p.G389A	NM_004667	NP_004658	O95714	HERC2_HUMAN	Homo sapiens hect domain and RLD 2 (HERC2), mRNA.	2854	DOC.				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CAGGGAATTTCCACCTAGGAA	0.368000														19			10		0	0	0.000442599	0	0
PLCB1	23236	broad.mit.edu	37	20	8637904	8637904	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr20:8637904C>T	uc002wnb.3	+	7	671	c.668C>T	c.(667-669)cCt>cTt	p.P223L	PLCB1_uc010zrb.1_Missense_Mutation_p.P122L|PLCB1_uc002wna.3_Missense_Mutation_p.P223L|PLCB1_uc002wnc.1_Missense_Mutation_p.P122L	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN	Homo sapiens phospholipase C, beta 1 (phosphoinositide-specific) (PLCB1), transcript variant 1, mRNA.	223					CD24 biosynthetic process|G1 phase|G2/M transition of mitotic cell cycle|activation of meiosis involved in egg activation|cerebral cortex development|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of JNK cascade|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of G-protein coupled receptor protein signaling pathway|regulation of fertilization|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	GTPase activator activity|calcium ion binding|calmodulin binding|enzyme binding|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						TGCCCTCGACCTGAAATTGAT	0.393000														59			29		0	0	0.00209593	0	0
C2orf44	80304	broad.mit.edu	37	2	24261392	24261392	+	Nonsense_Mutation	SNP	T	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:24261392T>A	uc002rep.2	-	1	1104	c.973A>T	c.(973-975)Aag>Tag	p.K325*	C2orf44_uc010eya.2_Nonsense_Mutation_p.K325*	NM_025203	NP_079479	Q9H6R7	CB044_HUMAN	Homo sapiens chromosome 2 open reading frame 44 (C2orf44), transcript variant 1, mRNA.	325							protein binding		C2orf44/ALK(2)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACTGCCTTCTTAAAGGTCACA	0.413000			T	ALK	NSCLC									41			18		0	0	0.00188189	0	0
FBXO15	201456	broad.mit.edu	37	18	71740773	71740773	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr18:71740773C>T	uc002llf.2	-	9	1536	c.1456G>A	c.(1456-1458)Gaa>Aaa	p.E486K	FBXO15_uc002lld.2_Non-coding_Transcript|FBXO15_uc002lle.2_Missense_Mutation_p.E410K	NM_001142958	NP_689889	Q8NCQ5	FBX15_HUMAN	Homo sapiens F-box protein 15 (FBXO15), transcript variant 2, mRNA.	410										autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	27		Esophageal squamous(42;0.103)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.143)		AGGTATTCTTCGGTCTCTCTG	0.453000														136			49		0	0	0.00361006	0	0
abParts	0	broad.mit.edu	37	14	106757745	106757745	+	RNA	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr14:106757745G>A	uc021ser.1	-	749		c.19633C>T								Parts of antibodies, mostly variable regions.																		GAGATGGTGAGCCTGCTCTTC	0.527000														44			31		0	0	0.00283554	0	0
TBC1D13	54662	broad.mit.edu	37	9	131559354	131559354	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr9:131559354C>T	uc010myj.3	+	6	527	c.404C>T	c.(403-405)tCc>tTc	p.S135F	TBC1D13_uc010myk.3_Missense_Mutation_p.S135F|TBC1D13_uc010myl.3_5'UTR	NM_018201	NP_060671	Q9NVG8	TBC13_HUMAN	Homo sapiens TBC1 domain family, member 13 (TBC1D13), mRNA.	135	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	6						CCAGACATTTCCTTCTTCCAG	0.502000														92			91		0	0	0.00361006	0	0
ZFP42	132625	broad.mit.edu	37	4	188924639	188924639	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr4:188924639C>T	uc003izh.1	+	3	1086	c.678C>T	c.(676-678)ttC>ttT	p.F226F	ZFP42_uc003izi.1_Silent_p.F226F|ZFP42_uc021xvm.1_Silent_p.F226F	NM_174900	NP_777560	Q96MM3	ZFP42_HUMAN	Homo sapiens zinc finger protein 42 homolog (mouse) (ZFP42), mRNA.	226					female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		GGAAAGCGTTCGTTGAGAGCT	0.507000														65			22		0	0	0.00278032	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37506675	37506675	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr10:37506675G>A	uc021ppc.1	+	32	3067	c.2968G>A	c.(2968-2970)Gaa>Aaa	p.E990K	ANKRD30A_uc001iza.1_Missense_Mutation_p.E990K	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	1046						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						TATATTAAATGAAAAAATTAG	0.308000														63			27		0	0	0.00209593	0	0
FLT4	2324	broad.mit.edu	37	5	180048217	180048217	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:180048217C>T	uc003mlz.4	-	13	2135	c.2056G>A	c.(2056-2058)Gac>Aac	p.D686N	FLT4_uc003mma.4_Missense_Mutation_p.D686N|FLT4_uc003mmb.1_Missense_Mutation_p.D219N|FLT4_uc011dgy.2_Missense_Mutation_p.D686N	NM_182925	NP_891555	P35916	VGFR3_HUMAN	Homo sapiens fms-related tyrosine kinase 4 (FLT4), transcript variant 1, mRNA.	686	Ig-like C2-type 7.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	ACCAGGAGGTCGGTCAAGTTC	0.637000														28			16		0	0	0.000958276	0	0
NTF3	4908	broad.mit.edu	37	12	5604142	5604142	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:5604142C>T	uc001qnl.4	+	0	845	c.762C>T	c.(760-762)atC>atT	p.I254I	NTF3_uc001qnk.4_Silent_p.I267I	NM_002527	NP_002518	P20783	NTF3_HUMAN	Homo sapiens neurotrophin 3 (NTF3), transcript variant 2, mRNA.	254					signal transduction	extracellular region	growth factor activity|neurotrophin receptor binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(3)|upper_aerodigestive_tract(1)	22						CGAGAAAAATCGGAAGAACAT	0.368000														13			10		0	0	0.000442599	0	0
THADA	63892	broad.mit.edu	37	2	43800110	43800110	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:43800110G>A	uc002rsw.4	-	11	2103	c.1751C>T	c.(1750-1752)tCc>tTc	p.S584F	THADA_uc010far.3_5'Flank|THADA_uc002rsx.4_Missense_Mutation_p.S584F|THADA_uc002rsy.4_Non-coding_Transcript|THADA_uc010fas.1_Non-coding_Transcript|THADA_uc002rsz.3_Missense_Mutation_p.S294F|THADA_uc010fat.1_5'Flank|THADA_uc002rta.2_Missense_Mutation_p.S294F|THADA_uc002rtb.1_Missense_Mutation_p.S584F|THADA_uc002rtc.4_Missense_Mutation_p.S584F|THADA_uc002rtd.3_Missense_Mutation_p.S584F	NM_001083953	NP_071348	Q6YHU6	THADA_HUMAN	Homo sapiens thyroid adenoma associated (THADA), transcript variant 3, mRNA.	584							binding			breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				AGACCCTAAGGATGGGAAAGA	0.428000														213			82		0	0	0.00361006	0	0
DSP	1832	broad.mit.edu	37	6	7580162	7580162	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:7580162C>T	uc003mxp.1	+	22	4018	c.3739C>T	c.(3739-3741)Cga>Tga	p.R1247*	DSP_uc003mxq.1_Intron|DSP_uc021yle.1_Nonsense_Mutation_p.R1247*	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	1247	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		AAGGGAAAATCGAGATCTGAA	0.443000														54			22		0	0	0.00229938	0	0
HRNR	388697	broad.mit.edu	37	1	152188325	152188325	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:152188325C>T	uc001ezt.1	-	2	5856	c.5780G>A	c.(5779-5781)gGg>gAg	p.G1927E		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	Homo sapiens hornerin (HRNR), mRNA.	1927					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGAGCCAGACCCATGCTGACC	0.582000														451			51		0	0	0.00361006	0	0
MYO3A	53904	broad.mit.edu	37	10	26241088	26241088	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr10:26241088C>T	uc001isn.2	+	2	409	c.49C>T	c.(49-51)Cct>Tct	p.P17S	MYO3A_uc009xko.1_Missense_Mutation_p.P17S|MYO3A_uc009xkp.1_Non-coding_Transcript|MYO3A_uc009xkq.1_Missense_Mutation_p.P17S|MYO3A_uc001ism.2_Missense_Mutation_p.P17S	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	Homo sapiens myosin IIIA (MYO3A), mRNA.	17					protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	ADP binding|ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						CTTTCCTGATCCTTCTGATAC	0.333000														37			17		0	0	0.00400662	0	0
ROS1	6098	broad.mit.edu	37	6	117609907	117609907	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:117609907C>T	uc003pxp.1	-	42	6991	c.6792G>A	c.(6790-6792)atG>atA	p.M2264I	ROS1_uc011ebi.1_Non-coding_Transcript	NM_002944	NP_002935	P08922	ROS_HUMAN	Homo sapiens c-ros oncogene 1 , receptor tyrosine kinase (ROS1), mRNA.	2264					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		TCTTCGTTTCCATTAAAGCAA	0.388000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""									37			17		0	0	0.00152264	0	0
RALGAPA1	253959	broad.mit.edu	37	14	36104692	36104692	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr14:36104692G>A	uc001wtj.3	-	30	4662	c.4271C>T	c.(4270-4272)tCt>tTt	p.S1424F	RALGAPA1_uc010amp.3_Non-coding_Transcript|RALGAPA1_uc001wti.3_Missense_Mutation_p.S1424F|RALGAPA1_uc010tpv.2_Missense_Mutation_p.S1437F|RALGAPA1_uc010tpw.1_Missense_Mutation_p.S1471F	NM_194301	NP_919277	Q6GYQ0	RGPA1_HUMAN	Homo sapiens Ral GTPase activating protein, alpha subunit 1 (catalytic) (RALGAPA1), transcript variant 2, mRNA.	1424	Minimal domain that binds to TCF3/E12 (By similarity).				activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	Ral GTPase activator activity|protein heterodimerization activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						ATTGAGAACAGATTTTTCTGT	0.358000														11			11		0	0	0.000978159	0	0
MARCO	8685	broad.mit.edu	37	2	119726751	119726751	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:119726751G>A	uc002tln.1	+	1	245	c.113G>A	c.(112-114)aGg>aAg	p.R38K	MARCO_uc010yyf.1_5'UTR	NM_006770	NP_006761	Q9UEW3	MARCO_HUMAN	Homo sapiens macrophage receptor with collagenous structure (MARCO), mRNA.	38					cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity	p.K37N(1)		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						AAGCCCAAGAGGAGAAATGGG	0.577000														48			21		0	0	0.000878237	0	0
VCAM1	7412	broad.mit.edu	37	1	101198024	101198024	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:101198024G>A	uc001dti.3	+	6	1797	c.1576G>A	c.(1576-1578)Gaa>Aaa	p.E526K	VCAM1_uc010ouj.2_Missense_Mutation_p.E464K|VCAM1_uc001dtj.3_Missense_Mutation_p.E434K	NM_001078	NP_001069	P19320	VCAM1_HUMAN	Homo sapiens vascular cell adhesion molecule 1 (VCAM1), transcript variant 1, mRNA.	526	Ig-like C2-type 6.				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	CATCCTGGAGGAAGGCAGTTC	0.537000														55			35		0	0	0.00327116	0	0
CNGB3	54714	broad.mit.edu	37	8	87738817	87738817	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr8:87738817G>A	uc003ydx.3	-	2	328	c.280C>T	c.(280-282)Cca>Tca	p.P94S		NM_019098	NP_061971	Q9NQW8	CNGB3_HUMAN	Homo sapiens cyclic nucleotide gated channel beta 3 (CNGB3), mRNA.	94					signal transduction|visual perception	integral to membrane	cGMP binding			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						GTTCCAGTTGGTTCTGCTGCA	0.398000														191			97		0	0	0.00361006	0	0
NDST4	64579	broad.mit.edu	37	4	115997498	115997498	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr4:115997498G>A	uc003ibu.3	-	1	1374	c.695C>T	c.(694-696)cCt>cTt	p.P232L	NDST4_uc010imw.3_Intron	NM_022569	NP_072091	Q9H3R1	NDST4_HUMAN	Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 (NDST4), mRNA.	232	Heparan sulfate N-deacetylase 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)		TAAAAGTACAGGCTGGTAGGT	0.443000														58			17		0	0	0.00121646	0	0
OR10J3	441911	broad.mit.edu	37	1	159283490	159283490	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:159283490G>A	uc010piu.2	-	0	960	c.960C>T	c.(958-960)ggC>ggT	p.G320G		NM_001004467	NP_001004467	Q5JRS4	O10J3_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily J, member 3 (OR10J3), mRNA.	320					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					CAAAGGAAAAGCCTTCACAAC	0.403000														69			35		0	0	0.00428921	0	0
VAMP4	8674	broad.mit.edu	37	1	171678874	171678874	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:171678874C>T	uc001ghx.2	-	5	655	c.276G>A	c.(274-276)tcG>tcA	p.S92S	VAMP4_uc001ghw.2_Non-coding_Transcript|VAMP4_uc001ghy.2_Silent_p.S91S|VAMP4_uc001ghv.2_Non-coding_Transcript	NM_003762	NP_003753	O75379	VAMP4_HUMAN	Homo sapiens vesicle-associated membrane protein 4 (VAMP4), transcript variant 1, mRNA.	92	v-SNARE coiled-coil homology.				vesicle-mediated transport	Golgi membrane|endosome|integral to membrane|lysosome				large_intestine(4)	4	all_cancers(6;1.42e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					TTGCATTATCCGATAAGCTTT	0.363000														69			23		0	0	0.000878237	0	0
SPRR4	163778	broad.mit.edu	37	1	152944375	152944375	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:152944375C>T	uc001fav.1	+	1	72	c.9C>T	c.(7-9)tcC>tcT	p.S3S	SPRR4_uc021ozm.1_Silent_p.S3S	NM_173080	NP_775103	Q96PI1	SPRR4_HUMAN	Homo sapiens small proline-rich protein 4 (SPRR4), mRNA.	3					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)			CAATGTCTTCCcagcagcagc	0.532000														47			29		0	0	0.00178596	0	0
OR4Q3	441669	broad.mit.edu	37	14	20216060	20216060	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr14:20216060C>T	uc010tkt.2	+	0	474	c.474C>T	c.(472-474)atC>atT	p.I158I		NM_172194	NP_751944	Q8NH05	OR4Q3_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily Q, member 3 (OR4Q3), mRNA.	158					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TCCACTCTATCATGCAGGTCA	0.507000														13			9		0	0	0.000442599	0	0
TRPC4	7223	broad.mit.edu	37	13	38237841	38237841	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr13:38237841G>A	uc010abx.3	-	5	1635	c.1400C>T	c.(1399-1401)tCa>tTa	p.S467L	TRPC4_uc010abv.3_Missense_Mutation_p.S47L|TRPC4_uc001uwt.3_Missense_Mutation_p.S467L|TRPC4_uc001uws.3_Missense_Mutation_p.S467L|TRPC4_uc010tey.2_Missense_Mutation_p.S467L|TRPC4_uc010abw.3_Missense_Mutation_p.S294L|TRPC4_uc010aby.3_Missense_Mutation_p.S467L	NM_003306	NP_003297	Q9UBN4	TRPC4_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 4 (TRPC4), transcript variant epsilon, mRNA.	467					axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity	p.S467L(3)		NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		CATGTCCCATGATTCTCGTGG	0.423000														25			13		0	0	0.00244969	0	0
PCDHB8	56128	broad.mit.edu	37	5	140558795	140558795	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:140558795C>T	uc011dai.2	+	0	1425	c.1180C>T	c.(1180-1182)Ctg>Ttg	p.L394L	PCDHB16_uc003liv.3_5'Flank	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	Homo sapiens protocadherin beta 8 (PCDHB8), mRNA.	394	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACCCTTCCTCCTGAAATCTTC	0.458000														110			26		0	0	0.00332997	0	0
HIVEP3	59269	broad.mit.edu	37	1	41976638	41976638	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:41976638G>A	uc001cgz.4	-	8	7918	c.6705C>T	c.(6703-6705)gcC>gcT	p.A2235A	HIVEP3_uc001cha.4_Silent_p.A2234A|HIVEP3_uc001cgy.3_Non-coding_Transcript	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 3 (HIVEP3), transcript variant 1, mRNA.	2235					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				GGGCCTCCCGGGCCCCTGTCA	0.697000														24			25		0	0	0.00106085	0	0
NAALADL2	254827	broad.mit.edu	37	3	174814871	174814871	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:174814871G>A	uc003fit.3	+	1	422	c.335G>A	c.(334-336)cGa>cAa	p.R112Q	NAALADL2_uc003fiu.1_Missense_Mutation_p.R105Q	NM_207015	NP_996898	Q58DX5	NADL2_HUMAN	Homo sapiens N-acetylated alpha-linked acidic dipeptidase-like 2 (NAALADL2), mRNA.	112					proteolysis	integral to membrane	peptidase activity			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		CATTATACACGATCTGCACCA	0.378000														85			41		0	0	0.00148497	0	0
OR6B3	150681	broad.mit.edu	37	2	240985208	240985208	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:240985208G>A	uc010zoe.2	-	0	282	c.282C>T	c.(280-282)ttC>ttT	p.F94F	PRR21_uc010zod.2_5'Flank	NM_173351	NP_775486	Q8NGW1	OR6B3_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily B, member 3 (OR6B3), mRNA.	94					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(10)|lung(4)|ovary(2)|prostate(1)	18		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;1.05e-29)|all cancers(36;3.52e-28)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)|Colorectal(34;0.019)|COAD - Colon adenocarcinoma(134;0.141)		TGCACCCGACGAAAGAGATGC	0.567000														22			10		0	0	0.00316338	0	0
MAN1A2	10905	broad.mit.edu	37	1	117984892	117984892	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:117984892C>T	uc001ehd.1	+	5	1616	c.895C>T	c.(895-897)Ctt>Ttt	p.L299F	MAN1A2_uc009whg.1_Missense_Mutation_p.L89F	NM_006699	NP_006690	O60476	MA1A2_HUMAN	Homo sapiens mannosidase, alpha, class 1A, member 2 (MAN1A2), mRNA.	299					N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	27	Lung SC(450;0.225)	all_cancers(81;7.9e-06)|all_epithelial(167;7.39e-07)|all_lung(203;2.84e-06)|Lung NSC(69;1.99e-05)		Lung(183;0.0688)|Kidney(133;0.114)|LUSC - Lung squamous cell carcinoma(189;0.223)|KIRC - Kidney renal clear cell carcinoma(1967;0.237)|Colorectal(144;0.243)		TGAGAAACTCCTTCCTGCCTT	0.343000														108			23		0	0	0.000878237	0	0
CACNA2D4	93589	broad.mit.edu	37	12	2019079	2019079	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:2019079G>A	uc021qsx.1	-	3	710	c.479C>T	c.(478-480)tCc>tTc	p.S160F	CACNA2D4_uc009zds.2_Non-coding_Transcript|CACNA2D4_uc009zdt.1_Missense_Mutation_p.S160F	NM_172364	NP_758952	Q7Z3S7	CA2D4_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 4 (CACNA2D4), mRNA.	160						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		CACCACCAGGGATTCATTGAA	0.602000														15			4		0	0	0.00116845	0	0
SPACA7	122258	broad.mit.edu	37	13	113052392	113052392	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr13:113052392C>T	uc001vsd.2	+	2	230	c.181C>T	c.(181-183)Ctg>Ttg	p.L61L		NM_145248	NP_660291	Q96KW9	SPAC7_HUMAN	Homo sapiens sperm acrosome associated 7 (SPACA7), mRNA.	61						extracellular region				large_intestine(5)|lung(4)|skin(3)|urinary_tract(1)	13						GATTTTAGATCTGAATAAAAC	0.478000														76			27		0	0	0.001512	0	0
KIAA1217	56243	broad.mit.edu	37	10	24813486	24813486	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr10:24813486C>T	uc001iru.4	+	12	3094	c.2691C>T	c.(2689-2691)tcC>tcT	p.S897S	KIAA1217_uc001irs.3_Silent_p.S817S|KIAA1217_uc001irt.4_Silent_p.S862S|KIAA1217_uc010qcy.2_Silent_p.S862S|KIAA1217_uc010qcz.2_Silent_p.S862S|KIAA1217_uc001irv.1_Silent_p.S712S|KIAA1217_uc010qda.1_Intron|KIAA1217_uc001irw.3_Silent_p.S580S|KIAA1217_uc001irz.3_Silent_p.S580S|KIAA1217_uc001irx.3_Silent_p.S580S|KIAA1217_uc001iry.3_Silent_p.S580S	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA.	897					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						TCCAGCCCTCCCAGCACTCCG	0.647000														18			8		0	0	0.000274275	0	0
ZFHX4	79776	broad.mit.edu	37	8	77761883	77761883	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr8:77761883C>T	uc003yau.2	+	7	4168	c.3781C>T	c.(3781-3783)Ctc>Ttc	p.L1261F	ZFHX4_uc003yaw.1_Missense_Mutation_p.L1216F	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	1216						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CAAAATGCATCTCCAACTGCA	0.493000										HNSCC(33;0.089)				35			9		0	0	0.000442599	0	0
OR11L1	391189	broad.mit.edu	37	1	248004784	248004784	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:248004784C>T	uc001idn.1	-	0	415	c.415G>A	c.(415-417)Ggg>Agg	p.G139R		NM_001001959	NP_001001959	Q8NGX0	O11L1_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily L, member 1 (OR11L1), mRNA.	139					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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)			GCACAGAGCCCACGATGCATG	0.597000														33			10		0	0	0.000673444	0	0
DNER	92737	broad.mit.edu	37	2	230282935	230282935	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:230282935G>A	uc002vpv.3	-	8	1645	c.1498C>T	c.(1498-1500)Ctc>Ttc	p.L500F		NM_139072	NP_620711	Q8NFT8	DNER_HUMAN	Homo sapiens delta/notch-like EGF repeat containing (DNER), mRNA.	500	EGF-like 7.				Notch signaling pathway|central nervous system development|endocytosis|neuron migration|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		TCACAGTAGAGGCCATGGTAA	0.552000														31			12		0	0	0.00185496	0	0
CDKN2A	1029	broad.mit.edu	37	9	21971120	21971120	+	Nonsense_Mutation	SNP	G	A	A	rs121913388		TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr9:21971120G>A	uc003zpk.3	-	1	544	c.238C>T	c.(238-240)Cga>Tga	p.R80*	MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.3_3'UTR|CDKN2A_uc010miu.3_Nonsense_Mutation_p.R80*|CDKN2A_uc003zpl.3_Missense_Mutation_p.P94L	NM_000077	NP_000068	P42771	CD2A1_HUMAN	Homo sapiens cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4) (CDKN2A), transcript variant 1, mRNA.	80			R -> L (in a head and neck tumor).|R -> P (in CMM2; loss of CDK4 binding).		G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|Ras protein signal transduction|cell cycle arrest|cell cycle checkpoint|induction of apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|replicative senescence	cytosol|nucleus	NF-kappaB binding|cyclin-dependent protein kinase inhibitor activity|protein binding|protein kinase binding	p.0?(1315)|p.R80*(200)|p.?(44)|p.P135L(7)|p.T79fs*37(2)|p.R80Q(2)|p.T79fs*65(2)|p.E61_L94del(2)|p.R80fs*34(2)|p.R80?(2)|p.T79I(2)|p.L65fs*38(1)|p.0(1)|p.R80fs*66(1)|p.A76fs*64(1)|p.T79fs*41(1)|p.A68fs*3(1)|p.T79T(1)|p.R80L(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TGCACGGGTCGGGTGAGAGTG	0.726000	R80*(HSC4_UPPER_AERODIGESTIVE_TRACT)|R80*(MEWO_SKIN)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				45			41		0	0	0.00321405	0	0
NRSN1	140767	broad.mit.edu	37	6	24145875	24145875	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:24145875G>A	uc010jpq.1	+	3	526	c.289G>A	c.(289-291)Gat>Aat	p.D97N		NM_080723	NP_542454	Q8IZ57	NRSN1_HUMAN	Homo sapiens neurensin 1 (NRSN1), mRNA.	97					nervous system development	growth cone|integral to membrane|neuronal cell body|transport vesicle				breast(1)|endometrium(2)|large_intestine(2)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	22						TGGCGAAGCCGATTTTGTGGT	0.507000														69			18		0	0	0.00074312	0	0
QRICH2	84074	broad.mit.edu	37	17	74287969	74287969	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr17:74287969A>T	uc002jrd.1	-	3	2521	c.2341T>A	c.(2341-2343)Tat>Aat	p.Y781N	QRICH2_uc010dgw.1_Intron	NM_032134	NP_115510	Q9H0J4	QRIC2_HUMAN	Homo sapiens glutamine rich 2 (QRICH2), mRNA.	781							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						TCATGCAAATATGCACCAGGT	0.502000														143			52		0	0	0.00361006	0	0
SLC12A5	57468	broad.mit.edu	37	20	44663592	44663592	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr20:44663592G>A	uc010zxl.1	+	1	203	c.127G>A	c.(127-129)Ggc>Agc	p.G43S	SLC12A5_uc002xra.2_Missense_Mutation_p.G20S|SLC12A5_uc010zxm.1_Non-coding_Transcript|SLC12A5_uc002xrb.2_Missense_Mutation_p.G20S	NM_001134771	NP_001128243	Q9H2X9	S12A5_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporter), member 5 (SLC12A5), transcript variant 1, mRNA.	43					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity	p.K43K(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	CTCAGGTGATGGCAACCCCAA	0.527000														78			15		0	0	0.000958276	0	0
BBX	56987	broad.mit.edu	37	3	107524238	107524238	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:107524238C>T	uc010hpr.3	+	17	3087	c.2760C>T	c.(2758-2760)ctC>ctT	p.L920L	BBX_uc003dwk.4_Silent_p.L890L|BBX_uc003dwl.4_Missense_Mutation_p.S584L|BBX_uc003dwm.4_Silent_p.L890L|BBX_uc003dwo.4_Missense_Mutation_p.S237L	NM_001142568	NP_001136040	Q8WY36	BBX_HUMAN	Homo sapiens bobby sox homolog (Drosophila) (BBX), transcript variant 1, mRNA.	920					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2)	49			OV - Ovarian serous cystadenocarcinoma(3;0.112)			CAACTCCGCTCACCCATGATG	0.433000														132			51		0	0	0.00361006	0	0
FLT4	2324	broad.mit.edu	37	5	180057250	180057250	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:180057250G>A	uc003mlz.4	-	3	567	c.488C>T	c.(487-489)cCc>cTc	p.P163L	FLT4_uc003mma.4_Missense_Mutation_p.P163L|FLT4_uc003mmb.1_5'Flank|FLT4_uc011dgy.2_Missense_Mutation_p.P163L|FLT4_uc011dgz.1_Missense_Mutation_p.P163L|FLT4_uc011dha.1_Missense_Mutation_p.P147S	NM_182925	NP_891555	P35916	VGFR3_HUMAN	Homo sapiens fms-related tyrosine kinase 4 (FLT4), transcript variant 1, mRNA.	163	Ig-like C2-type 2.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	ATTGAGGCCGGGGATGGACAC	0.632000														16			13		0	0	0.00244969	0	0
H1FOO	132243	broad.mit.edu	37	3	129267891	129267891	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:129267891C>T	uc003emu.3	+	2	431	c.426C>T	c.(424-426)ccC>ccT	p.P142P	H1FOO_uc003emv.3_Silent_p.P3P	NM_153833	NP_722575	Q8IZA3	H1FOO_HUMAN	Homo sapiens H1 histone family, member O, oocyte-specific (H1FOO), mRNA.	142					meiosis|nucleosome assembly	cytoplasm|nucleosome	DNA binding			endometrium(1)|lung(4)|skin(1)	6						AGATGGCCCCCGCGACGGCTC	0.617000														9			10		0	0	0.00136819	0	0
LINC00174	285908	broad.mit.edu	37	7	65842257	65842257	+	RNA	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:65842257G>A	uc003tux.3	-	4		c.3198C>T								Homo sapiens long intergenic non-protein coding RNA 174 (LINC00174), non-coding RNA.																		TGAACGCAGGGAAGCCTGGGG	0.726000														3			5		0	0	0.000602214	0	0
SPON1	10418	broad.mit.edu	37	11	14101558	14101558	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:14101558G>A	uc001mle.3	+	5	932	c.664G>A	c.(664-666)Gat>Aat	p.D222N		NM_006108	NP_006099	Q9HCB6	SPON1_HUMAN	Homo sapiens spondin 1, extracellular matrix protein (SPON1), mRNA.	223	Spondin.				cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding			NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21				Epithelial(150;0.00898)		ACACCCAAAGGATTACCCTCG	0.483000														40			15		0	0	0.00074312	0	0
HK3	3101	broad.mit.edu	37	5	176308748	176308748	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:176308748G>A	uc003mfa.3	-	16	2430	c.2338C>T	c.(2338-2340)Cag>Tag	p.Q780*	HK3_uc003mez.3_Nonsense_Mutation_p.Q336*	NM_002115	NP_002106	P52790	HXK3_HUMAN	Homo sapiens hexokinase 3 (white cell) (HK3), nuclear gene encoding mitochondrial protein, mRNA.	780	Catalytic.				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity	p.Q780Q(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGAAGGCGCTGGATCTGCTGG	0.542000														89			30		0	0	0.00209593	0	0
UBE2NL	389898	broad.mit.edu	37	X	142967226	142967226	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chrX:142967226C>T	uc004fca.3	+	0	54	c.24C>T	c.(22-24)atC>atT	p.I8I		NM_001012989	NP_001013007	Q5JXB2	UE2NL_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2N-like (UBE2NL), mRNA.	8							acid-amino acid ligase activity			breast(1)|endometrium(1)|large_intestine(8)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(192;6.56e-05)					CCCACAGGATCATCAAGGAAA	0.458000														30			33		0	0	0.000953801	0	0
UBQLN4	56893	broad.mit.edu	37	1	156020207	156020207	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:156020207G>A	uc001fna.3	-	3	640	c.616C>T	c.(616-618)Cag>Tag	p.Q206*	UBQLN4_uc010pgx.2_Nonsense_Mutation_p.Q186*	NM_020131	NP_064516	Q9NRR5	UBQL4_HUMAN	Homo sapiens ubiquilin 4 (UBQLN4), mRNA.	206						cytosol|endoplasmic reticulum membrane|nucleus	identical protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|skin(2)	16	Hepatocellular(266;0.133)|all_neural(408;0.195)					ATCATATCCTGGACCAGGGGG	0.547000														69			27		0	0	0.00178596	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113518733	113518733	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:113518733G>A	uc010ljy.1	-	3	2445	c.2414C>T	c.(2413-2415)tCa>tTa	p.S805L		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 3A (PPP1R3A), mRNA.	805					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						ACCTAAACGTGATTCCTTTTC	0.383000														36			18		0	0	0.000958276	0	0
MUC3A	4584	broad.mit.edu	37	7	100552178	100552178	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:100552178C>T	uc003uxl.1	+	0	1429	c.629C>T	c.(628-630)cCc>cTc	p.P210L	MUC3A_uc003uxk.1_Non-coding_Transcript					SubName: Full=Intestinal mucin; Flags: Fragment;											breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						GAAATAACCCCCTTTTCTTAT	0.478000														296			78		0	0	0.00361006	0	0
OR7G3	390883	broad.mit.edu	37	19	9237101	9237102	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:9237101_9237102GG>AA	uc010xkl.2	-	0	525_526	c.525_526CC>TT	c.(523-528)ccccac>ccTTac	p.H176Y		NM_001001958	NP_001001958	Q8NG95	OR7G3_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily G, member 3 (OR7G3), mRNA.	176					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						CAGAAAAAGTGGGGAATTTCCA	0.485000														50			16		0	0	6.4e-05	0	0
FBXO39	162517	broad.mit.edu	37	17	6683194	6683194	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr17:6683194G>A	uc010vtg.2	+	1	127	c.7G>A	c.(7-9)Gaa>Aaa	p.E3K		NM_153230	NP_694962	Q8N4B4	FBX39_HUMAN	Homo sapiens F-box protein 39 (FBXO39), mRNA.	3										NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	26						CTGGATGGACGAAGAAAGTGA	0.512000														17			14		0	0	0.00400662	0	0
DHX38	9785	broad.mit.edu	37	16	72142768	72142768	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr16:72142768G>A	uc002fcb.3	+	23	3680	c.3325G>A	c.(3325-3327)Gga>Aga	p.G1109R	DHX38_uc010vmp.2_Missense_Mutation_p.G421R	NM_014003	NP_054722	Q92620	PRP16_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 38 (DHX38), mRNA.	1109					mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48		Ovarian(137;0.125)				CTCCCTTTTTGGAATGGGCTA	0.547000														22			14		0	0	0.00400662	0	0
LILRB4	11006	broad.mit.edu	37	19	55175813	55175813	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:55175813G>A	uc002qgp.3	+	3	894	c.532G>A	c.(532-534)Gct>Act	p.A178T	LILRB4_uc002qgq.3_Missense_Mutation_p.A178T|LILRB4_uc010ers.1_Missense_Mutation_p.A91T|LILRB4_uc010ert.3_Missense_Mutation_p.A219T|LILRB4_uc010eru.3_Missense_Mutation_p.A207T	NM_006847	NP_006838	Q8NHJ6	LIRB4_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4 (LILRB4), transcript variant 1, mRNA.	178	Ig-like C2-type 2.					integral to membrane|plasma membrane	antigen binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		GCAGCACCAGGCTGAATTCCC	0.587000														36			22		0	0	0.000720815	0	0
APOB	338	broad.mit.edu	37	2	21251279	21251280	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:21251279_21251280CC>AA	uc002red.3	-	12	1876_1877	c.1748_1749GG>TT	c.(1747-1749)tgg>tTT	p.W583F		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	583	Vitellogenin.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CATTCTGTTCCCATGGTAGAAT	0.416000														615			13		0	0	6.4e-05	0	0
MUC15	143662	broad.mit.edu	37	11	26586820	26586820	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:26586820C>T	uc001mqw.3	-	2	940	c.667G>A	c.(667-669)Gat>Aat	p.D223N	ANO3_uc010rdr.2_Intron|ANO3_uc001mqt.4_Intron|ANO3_uc010rds.2_Intron|ANO3_uc010rdt.2_Intron|MUC15_uc001mqx.3_Missense_Mutation_p.D196N|MUC15_uc001mqy.3_Missense_Mutation_p.D223N	NM_001135091	NP_663625	Q8N387	MUC15_HUMAN	Homo sapiens mucin 15, cell surface associated (MUC15), transcript variant 1, mRNA.	196						extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25						GTGAAGCTATCACTGTTTGTG	0.408000														51			30		0	0	0.001512	0	0
GPR98	84059	broad.mit.edu	37	5	89989931	89989931	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:89989931C>T	uc003kju.3	+	32	7454	c.7358C>T	c.(7357-7359)tCa>tTa	p.S2453L	GPR98_uc003kjt.3_Missense_Mutation_p.S159L|GPR98_uc003kjv.3_Missense_Mutation_p.S53L	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	2453					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TCAGCGTTTTCATTTTTCAGT	0.493000														17			16		0	0	0.00074312	0	0
OR8K3	219473	broad.mit.edu	37	11	56085989	56085989	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:56085989G>A	uc010rjf.2	+	0	207	c.207G>A	c.(205-207)atG>atA	p.M69I		NM_001005202	NP_001005202	Q8NH51	OR8K3_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily K, member 3 (OR8K3), mRNA.	69					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40	Esophageal squamous(21;0.00448)					TGGCTTTCATGGATCTTGGTT	0.383000														63			45		0	0	0.00361006	0	0
CTNND2	1501	broad.mit.edu	37	5	11565081	11565081	+	Missense_Mutation	SNP	C	T	T	rs139706540		TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:11565081C>T	uc003jfa.1	-	2	407	c.262G>A	c.(262-264)Gag>Aag	p.E88K	CTNND2_uc010itt.2_5'UTR|CTNND2_uc011cmy.1_5'UTR|CTNND2_uc011cmz.1_5'UTR|CTNND2_uc010itu.1_Non-coding_Transcript	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	Homo sapiens catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein) (CTNND2), mRNA.	88					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						CTGCCAGTCTCGGATCCGAGC	0.527000														23			9		0	0	0.000442599	0	0
GLYATL1	92292	broad.mit.edu	37	11	58722338	58722338	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:58722338C>T	uc001nnh.2	+	4	425	c.375C>T	c.(373-375)atC>atT	p.I125I	GLYATL1_uc001nnf.3_Silent_p.I94I|LOC283194_uc001nng.1_Intron|GLYATL1_uc001nni.2_Silent_p.I94I|GLYATL1_uc001nnj.2_Silent_p.I94I	NM_080661	NP_542392	Q969I3	GLYL1_HUMAN	Homo sapiens glycine-N-acyltransferase-like 1 (GLYATL1), transcript variant 1, mRNA.	94						mitochondrion	glycine N-acyltransferase activity	p.I125I(2)		NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1)	34					Glycine(DB00145)	ATTGTGAGATCGTAAACTGGA	0.393000														19			8		0	0	0.00307968	0	0
DNAH9	1770	broad.mit.edu	37	17	11666863	11666863	+	Missense_Mutation	SNP	G	A	A	rs140313224		TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr17:11666863G>A	uc002gne.3	+	35	7170	c.7102G>A	c.(7102-7104)Gaa>Aaa	p.E2368K	DNAH9_uc010coo.3_Missense_Mutation_p.E1662K	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	2368					cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.E2368K(2)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CTGCCCTAAGGAAATTTATGA	0.493000														34			19		0	0	0.00121646	0	0
EPB41L2	2037	broad.mit.edu	37	6	131276314	131276314	+	Silent	SNP	G	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:131276314G>T	uc003qch.2	-	2	818	c.636C>A	c.(634-636)acC>acA	p.T212T	EPB41L2_uc010kfl.2_Silent_p.T212T|EPB41L2_uc003qcg.1_Silent_p.T212T|EPB41L2_uc003qci.3_Silent_p.T212T|EPB41L2_uc011eby.2_Silent_p.T212T|EPB41L2_uc010kfk.2_Silent_p.T212T	NM_001431	NP_001422	O43491	E41L2_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1-like 2 (EPB41L2), transcript variant 1, mRNA.	212					cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		TGGTCTTCTTGGTGACTTTTT	0.473000														155			7		0.00307968	0.00956451	0.00307968	1	0
ZNF555	148254	broad.mit.edu	37	19	2853213	2853213	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:2853213C>T	uc002lwo.3	+	3	1288	c.1150C>T	c.(1150-1152)Cga>Tga	p.R384*	ZNF555_uc002lwn.4_Nonsense_Mutation_p.R383*	NM_152791	NP_690004	Q8NEP9	ZN555_HUMAN	Homo sapiens zinc finger protein 555 (ZNF555), transcript variant 1, mRNA.	384					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)|urinary_tract(4)	23				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCAGTCCTTTCGAAGACATGA	0.478000														23			9		0	0	0.000442599	0	0
FAF1	11124	broad.mit.edu	37	1	51032830	51032830	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:51032830C>A	uc001cse.1	-	12	1640	c.1187G>T	c.(1186-1188)tGt>tTt	p.C396F	FAF1_uc009vyw.1_Non-coding_Transcript|FAF1_uc010onc.1_Missense_Mutation_p.C154F	NM_007051	NP_008982	Q9UNN5	FAF1_HUMAN	Homo sapiens Fas (TNFRSF6) associated factor 1 (FAF1), mRNA.	396					apoptosis|cytoplasmic sequestering of NF-kappaB|positive regulation of apoptosis|positive regulation of protein complex assembly|proteasomal ubiquitin-dependent protein catabolic process|regulation of protein catabolic process	CD95 death-inducing signaling complex|cytosol|perinuclear region of cytoplasm	NF-kappaB binding|heat shock protein binding|protein kinase binding|protein kinase regulator activity	p.0?(1)		breast(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526)		GGATTCAGCACAAAGCATTTG	0.393000														68			19		1.67942e-08	5.28471e-08	0.00074312	1	0
TMEM132A	54972	broad.mit.edu	37	11	60704083	60704083	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:60704083G>A	uc001nqi.3	+	10	2972	c.2779G>A	c.(2779-2781)Gag>Aag	p.E927K	TMEM132A_uc001nqj.3_Missense_Mutation_p.E926K	NM_017870	NP_060340	Q24JP5	T132A_HUMAN	Homo sapiens transmembrane protein 132A (TMEM132A), transcript variant 1, mRNA.	926	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						CTGCCCCTGTGAGAGTGGGGG	0.726000														9			4		0	0	0.000602214	0	0
CUL9	23113	broad.mit.edu	37	6	43173896	43173896	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:43173896C>T	uc003ouk.3	+	24	5020	c.4945C>T	c.(4945-4947)Ctc>Ttc	p.L1649F	CUL9_uc003oul.3_Missense_Mutation_p.L1649F|CUL9_uc010jyk.3_Missense_Mutation_p.L801F	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN	Homo sapiens cullin 9 (CUL9), mRNA.	1649					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						CCAGTTCCACCTCTTCCAGCT	0.562000														9			7		0	0	0.000442599	0	0
AGXT2L2	85007	broad.mit.edu	37	5	177651732	177651732	+	Splice_Site	SNP	T	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:177651732T>A	uc003miz.3	-	5	666	c.414_splice	c.e5-1	p.H138_splice	AGXT2L2_uc003miy.3_Splice_Site|AGXT2L2_uc003mjc.3_Splice_Site_p.H97_splice|AGXT2L2_uc003mjb.3_Splice_Site|AGXT2L2_uc003mja.3_Splice_Site|AGXT2L2_uc003mjd.1_5'UTR	NM_153373	NP_699204	Q8IUZ5	AT2L2_HUMAN	Homo sapiens alanine-glyoxylate aminotransferase 2-like 2 (AGXT2L2), mRNA.	138						mitochondrion	pyridoxal phosphate binding|transaminase activity			breast(1)|endometrium(2)|large_intestine(1)|pancreas(1)|prostate(1)	6	all_cancers(89;0.00185)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.181)|all cancers(165;0.235)	L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)	TGATACGCACTGGGGAGGAGA	0.622000														20			7		0	0	0.00198382	0	0
EXD1	161829	broad.mit.edu	37	15	41476750	41476750	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr15:41476750C>T	uc010ucv.2	-	11	1370	c.1098G>A	c.(1096-1098)aaG>aaA	p.K366K	EXD1_uc001znj.3_Silent_p.K106K|EXD1_uc001znk.3_Silent_p.K308K	NM_152596	NP_689809	Q8NHP7	EXD1_HUMAN	Homo sapiens exonuclease 3'-5' domain containing 1 (EXD1), mRNA.	308					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding			large_intestine(5)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(2)	16						TCTGGAAGTCCTTGAGTTGAA	0.428000														18			30		0	0	0.00209593	0	0
OR8K1	390157	broad.mit.edu	37	11	56113937	56113937	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:56113937C>T	uc010rjg.2	+	0	423	c.423C>T	c.(421-423)atC>atT	p.I141I		NM_001002907	NP_001002907	Q8NGG5	OR8K1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily K, member 1 (OR8K1), mRNA.	141					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(8)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Esophageal squamous(21;0.00448)					ACGTGATCATCATGGCAGAGA	0.388000										HNSCC(65;0.19)				71			47		0	0	0.00321405	0	0
RDH8	50700	broad.mit.edu	37	19	10132089	10132089	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:10132089G>A	uc002mmr.3	+	4	944	c.695G>A	c.(694-696)gGa>gAa	p.G232E		NM_015725	NP_056540	Q9NYR8	RDH8_HUMAN	Homo sapiens retinol dehydrogenase 8 (all-trans) (RDH8), mRNA.	232					estrogen biosynthetic process|response to stimulus|visual perception	cytoplasm|integral to plasma membrane	NADP-retinol dehydrogenase activity|binding|estradiol 17-beta-dehydrogenase activity|retinol dehydrogenase activity			endometrium(3)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|prostate(1)	21			Epithelial(33;4.24e-05)		Vitamin A(DB00162)	TGCTCCGTGGGACAGAACCCA	0.617000														47			13		0	0	0.00316338	0	0
ADCY1	107	broad.mit.edu	37	7	45743296	45743296	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:45743296G>A	uc003tne.4	+	15	2687	c.2669G>A	c.(2668-2670)gGg>gAg	p.G890E		NM_021116	NP_066939	Q08828	ADCY1_HUMAN	Homo sapiens adenylate cyclase 1 (brain) (ADCY1), mRNA.	890					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	AACAACATGGGGGTGGAGTGT	0.582000														62			30		0	0	0.00428921	0	0
DUSP10	11221	broad.mit.edu	37	1	221875831	221875831	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:221875831A>G	uc001hmy.2	-	3	1609	c.1372T>C	c.(1372-1374)Ttc>Ctc	p.F458L	DUSP10_uc001hmx.2_Missense_Mutation_p.F116L|DUSP10_uc001hmz.2_Missense_Mutation_p.F116L	NM_007207	NP_009138	Q9Y6W6	DUS10_HUMAN	Homo sapiens dual specificity phosphatase 10 (DUSP10), transcript variant 1, mRNA.	458					JNK cascade|inactivation of MAPK activity|negative regulation of JNK cascade|negative regulation of JUN kinase activity|negative regulation of stress-activated MAPK cascade	Golgi apparatus|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			NS(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(131;0.0103)		TCTTCCTCGAACTCTAGCAAC	0.468000														120			40		0	0	0.00285205	0	0
CAMSAP2	23271	broad.mit.edu	37	1	200818296	200818296	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:200818296C>T	uc001gvl.3	+	11	2702	c.2432C>T	c.(2431-2433)cCt>cTt	p.P811L	CAMSAP2_uc001gvk.3_Missense_Mutation_p.P800L|CAMSAP2_uc001gvm.3_Missense_Mutation_p.P784L	NM_203459	NP_982284	Q08AD1	CAMP2_HUMAN	Homo sapiens calmodulin regulated spectrin-associated protein family, member 2 (CAMSAP2), mRNA.	811						cytoplasm|microtubule	protein binding										GGGATATCTCCTCTACGAGAG	0.418000														61			34		0	0	0.00285205	0	0
DAPK2	23604	broad.mit.edu	37	15	64275775	64275775	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr15:64275775C>T	uc002amr.3	-	2	302	c.271G>A	c.(271-273)Gac>Aac	p.D91N	DAPK2_uc010uim.2_Intron|DAPK2_uc010bgu.1_Missense_Mutation_p.D81N	NM_014326	NP_055141	Q9UIK4	DAPK2_HUMAN	Homo sapiens death-associated protein kinase 2 (DAPK2), mRNA.	91	Protein kinase.				apoptosis|induction of apoptosis|intracellular protein kinase cascade	cytoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|identical protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	11				LUAD - Lung adenocarcinoma(2;0.215)		TCATAGACGTCGTGCAGCGTG	0.672000														21			41		0	0	0.00361006	0	0
SPHKAP	80309	broad.mit.edu	37	2	228882449	228882449	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:228882449C>T	uc002vpq.2	-	6	3168	c.3121G>A	c.(3121-3123)Gaa>Aaa	p.E1041K	SPHKAP_uc002vpp.2_Missense_Mutation_p.E1041K|SPHKAP_uc010zlx.1_Missense_Mutation_p.E1041K	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	1041						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)		GCTGCCACTTCATTGGCAAAA	0.512000														70			24		0	0	0.000720815	0	0
NEB	4703	broad.mit.edu	37	2	152534213	152534213	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:152534213C>T	uc021vrb.1	-	31	3669	c.3640G>A	c.(3640-3642)Gaa>Aaa	p.E1214K	NEB_uc002txu.3_Missense_Mutation_p.E1214K|NEB_uc021vrc.1_Missense_Mutation_p.E1214K|NEB_uc010fnx.3_Missense_Mutation_p.E1214K|NEB_uc021vrd.1_Missense_Mutation_p.E1214K	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	1214					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.E1214K(5)		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)		TTAACTTTTTCGACGTCGAGA	0.453000														201			97		0	0	0.00361006	0	0
MCU	90550	broad.mit.edu	37	10	74631160	74631160	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr10:74631160C>T	uc001jtc.3	+	5	704	c.683C>T	c.(682-684)gCt>gTt	p.A228V	MCU_uc009xqp.1_Non-coding_Transcript|MCU_uc009xqq.1_Non-coding_Transcript|MCU_uc010qjy.1_Non-coding_Transcript|MCU_uc009xqr.3_Missense_Mutation_p.A207V|MCU_uc001jtd.3_Missense_Mutation_p.A179V	NM_138357	NP_612366	Q8NE86	MCU_HUMAN	Homo sapiens mitochondrial calcium uniporter (MCU), nuclear gene encoding mitochondrial protein, mRNA.	228					elevation of mitochondrial calcium ion concentration|mitochondrial calcium ion transport|protein complex oligomerization	integral to membrane|mitochondrial inner membrane	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(1)	14						AGCAGAAAAGCTGAGAAGAGG	0.448000														84			71		0	0	0.00361006	0	0
OR13C3	138803	broad.mit.edu	37	9	107298427	107298427	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr9:107298427G>A	uc004bcb.1	-	0	668	c.668C>T	c.(667-669)tCc>tTc	p.S223F		NM_001001961	NP_001001961	Q8NGS6	O13C3_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 3 (OR13C3), mRNA.	223					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(1)|skin(1)	19						AATATTGAGGGATATATCAGC	0.393000														89			25		0	0	0.000720815	0	0
BTBD11	121551	broad.mit.edu	37	12	108013935	108013935	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:108013935G>A	uc001tmk.1	+	10	3146	c.2625G>A	c.(2623-2625)gcG>gcA	p.A875A	BTBD11_uc009zut.1_Silent_p.A756A|BTBD11_uc001tmj.3_Silent_p.A875A|BTBD11_uc001tml.1_Silent_p.A412A	NM_001018072	NP_001018082	A6QL63	BTBDB_HUMAN	Homo sapiens BTB (POZ) domain containing 11 (BTBD11), transcript variant a, mRNA.	875						integral to membrane	DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						TCCTGAAAGCGAGCAAGGTAT	0.507000														41			18		0	0	0.00121646	0	0
C12orf36	283422	broad.mit.edu	37	12	13526287	13526287	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:13526287G>A	uc001rbs.2	-	2	520	c.268C>T	c.(268-270)Ctg>Ttg	p.L90L						Homo sapiens chromosome 12 open reading frame 36 (C12orf36), non-coding RNA.									p.P89L(1)		lung(3)|skin(3)	6				BRCA - Breast invasive adenocarcinoma(232;0.198)		GGATTTCCCAGGGGAGGAGCT	0.463000														112			54		0	0	0.00361006	0	0
SHC3	53358	broad.mit.edu	37	9	91652999	91652999	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr9:91652999C>T	uc004aqf.2	-	10	1872	c.1565G>A	c.(1564-1566)aGg>aAg	p.R522K		NM_016848	NP_058544	Q92529	SHC3_HUMAN	Homo sapiens SHC (Src homology 2 domain containing) transforming protein 3 (SHC3), mRNA.	522	SH2.				Ras protein signal transduction|central nervous system development|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway	cytosol	protein binding|signal transducer activity			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|skin(3)	28						GGTGCTCTTCCTGACCAGGAA	0.602000														93			97		0	0	0.00361006	0	0
SLCO1B1	10599	broad.mit.edu	37	12	21355470	21355470	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:21355470G>A	uc001req.4	+	9	1285	c.1181G>A	c.(1180-1182)gGa>gAa	p.G394E		NM_006446	NP_006437	Q9Y6L6	SO1B1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1B1 (SLCO1B1), mRNA.	394					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity	p.G394E(2)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)	TTTTTAGGAGGATATATCATT	0.289000														40			18		0	0	0.00074312	0	0
MYO18B	84700	broad.mit.edu	37	22	26422462	26422462	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr22:26422462G>A	uc003abz.1	+	42	6772	c.6522G>A	c.(6520-6522)ctG>ctA	p.L2174L	MYO18B_uc003aca.1_Silent_p.L2055L|MYO18B_uc010guy.1_Silent_p.L2056L|MYO18B_uc010guz.1_Silent_p.L2054L|MYO18B_uc011aka.1_Silent_p.L1328L|MYO18B_uc011akb.1_Silent_p.L1687L|MYO18B_uc010gva.1_Silent_p.L157L|MYO18B_uc010gvb.1_Non-coding_Transcript	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	2174						nucleus|sarcomere|unconventional myosin complex	ATP binding|actin binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CATTGGCACTGAGCAGAGCCC	0.517000														115			50		0	0	0.00361006	0	0
OR10X1	128367	broad.mit.edu	37	1	158549368	158549368	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:158549368T>C	uc010pin.2	-	0	322	c.322A>G	c.(322-324)Att>Gtt	p.I108V		NM_001004477	NP_001004477	Q8NGY0	O10X1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily X, member 1 (OR10X1), mRNA.	108					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					GTGACTGAAATGCTTCTGTCC	0.478000														52			27		0	0	0.000878237	0	0
SCRIB	23513	broad.mit.edu	37	8	144874934	144874935	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr8:144874934_144874935GG>AA	uc003yzp.1	-	29	4127_4128	c.4120_4121CC>TT	c.(4120-4122)cct>TTt	p.P1374F	SCRIB_uc003yzn.1_Missense_Mutation_p.P83F|SCRIB_uc003yzo.1_Missense_Mutation_p.P1374F	NM_015356	NP_056171	Q14160	SCRIB_HUMAN	Homo sapiens scribbled homolog (Drosophila) (SCRIB), transcript variant 2, mRNA.	1374					activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	Scrib-APC-beta-catenin complex|cell-cell adherens junction	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			CACGCGCTTAGGGGGGCCCTCG	0.698000														10			7		0	0	6.4e-05	0	0
EGFLAM	133584	broad.mit.edu	37	5	38431313	38431313	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:38431313G>A	uc003jlc.2	+	14	2435	c.2089G>A	c.(2089-2091)Gag>Aag	p.E697K	EGFLAM_uc003jlb.2_Missense_Mutation_p.E697K|EGFLAM_uc003jle.2_Missense_Mutation_p.E463K|EGFLAM_uc003jlf.2_Missense_Mutation_p.E63K	NM_001205301	NP_001192230	Q63HQ2	EGFLA_HUMAN	Homo sapiens EGF-like, fibronectin type III and laminin G domains (EGFLAM), transcript variant 5, mRNA.	697	Laminin G-like 2.					cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					CAACTGGCACGAGCTTCGTGT	0.448000														39			11		0	0	0.00316338	0	0
ARL6IP1	23204	broad.mit.edu	37	16	18806878	18806878	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr16:18806878G>A	uc002dfl.1	-	3	385	c.316C>T	c.(316-318)Cat>Tat	p.H106Y	ARL6IP1_uc010van.1_Missense_Mutation_p.H77Y|ARL6IP1_uc010bvz.1_Intron	NM_015161	NP_055976	Q15041	AR6P1_HUMAN	Homo sapiens ADP-ribosylation factor-like 6 interacting protein 1 (ARL6IP1), mRNA.	106						integral to membrane	protein binding			breast(1)|large_intestine(2)|lung(6)|pancreas(1)|prostate(1)	11						CAAATTTCATGGAATCTTTGC	0.378000														29			15		0	0	0.00316338	0	0
NLRC4	58484	broad.mit.edu	37	2	32475575	32475575	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:32475575C>T	uc002roi.3	-	3	1619	c.1358G>A	c.(1357-1359)cGa>cAa	p.R453Q	NLRC4_uc021vfq.1_Missense_Mutation_p.R453Q|NLRC4_uc002roj.2_Missense_Mutation_p.R453Q|NLRC4_uc010ezt.2_Intron	NM_001199138	NP_001186067	Q9NPP4	NLRC4_HUMAN	Homo sapiens NLR family, CARD domain containing 4 (NLRC4), transcript variant 2, mRNA.	453	NACHT.				activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity	p.R453*(1)|p.R453Q(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					GCTGAGTCTTCGTCCTGCTGT	0.448000														56			22		0	0	0.00127121	0	0
GTF2IRD2P1	401375	broad.mit.edu	37	7	72658837	72658837	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:72658837G>A	uc003txs.1	-	12	1075	c.147C>T	c.(145-147)ttC>ttT	p.F49F	FKBP6_uc003twz.2_Intron					Homo sapiens GTF2I repeat domain containing 2 pseudogene 1 (GTF2IRD2P1), non-coding RNA.																		gtacttccacgaagaaaaatg	0.413000														151			59		0	0	0.00361006	0	0
TMC5	79838	broad.mit.edu	37	16	19460898	19460898	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr16:19460898C>T	uc002dgc.4	+	4	1742	c.993C>T	c.(991-993)gtC>gtT	p.V331V	TMC5_uc010vaq.2_Silent_p.V331V|TMC5_uc002dgb.4_Silent_p.V331V|TMC5_uc010var.2_Silent_p.V331V	NM_001105248	NP_001098718	Q6UXY8	TMC5_HUMAN	Homo sapiens transmembrane channel-like 5 (TMC5), transcript variant 1, mRNA.	331						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						GTGGTCCTGTCCATGCTTATG	0.478000														100			34		0	0	0.00428921	0	0
MYH1	4619	broad.mit.edu	37	17	10402058	10402058	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr17:10402058C>T	uc002gmo.3	-	29	4160	c.4066G>A	c.(4066-4068)Gaa>Aaa	p.E1356K	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	1356						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						GCCTTGGCTTCCTGCTCCTCC	0.567000														43			42		0	0	0.00285205	0	0
SPTLC2	9517	broad.mit.edu	37	14	78063594	78063594	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr14:78063594G>A	uc001xub.3	-	1	450	c.262C>T	c.(262-264)Cga>Tga	p.R88*		NM_004863	NP_004854	O15270	SPTC2_HUMAN	Homo sapiens serine palmitoyltransferase, long chain base subunit 2 (SPTLC2), mRNA.	88						integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(5)	19			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0346)	L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	AAGAAATCTCGAAGATATCCA	0.383000														15			15		0	0	0.00316338	0	0
NOTCH4	4855	broad.mit.edu	37	6	32188937	32188937	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:32188937G>A	uc003obb.3	-	3	756	c.617C>T	c.(616-618)cCc>cTc	p.P206L	NOTCH4_uc011dpu.2_Non-coding_Transcript|NOTCH4_uc011dpv.2_Non-coding_Transcript|NOTCH4_uc003obc.3_Missense_Mutation_p.P206L	NM_004557	NP_004548	Q99466	NOTC4_HUMAN	Homo sapiens notch 4 (NOTCH4), mRNA.	206	EGF-like 5; calcium-binding (Potential).		P -> L (in dbSNP:rs2071282).		Notch receptor processing|Notch signaling pathway|cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						GGTGCCTTTGGGGCAGGGTCC	0.652000														304			97		0	0	0.00361006	0	0
CCDC116	164592	broad.mit.edu	37	22	21988447	21988447	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr22:21988447T>C	uc002zve.3	+	2	302	c.209T>C	c.(208-210)tTt>tCt	p.F70S	CCDC116_uc011aih.1_Missense_Mutation_p.F70S	NM_152612	NP_689825	Q8IYX3	CC116_HUMAN	Homo sapiens coiled-coil domain containing 116 (CCDC116), mRNA.	70										endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(5)	22	Colorectal(54;0.105)					CCTCAGCCCTTTGGCCACTTT	0.622000														67			28		0	0	0.0024448	0	0
SLX4	84464	broad.mit.edu	37	16	3633257	3633257	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr16:3633257G>A	uc002cvp.2	-	13	5621	c.4994C>T	c.(4993-4995)cCc>cTc	p.P1665L		NM_032444	NP_115820	Q8IY92	SLX4_HUMAN	Homo sapiens SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae) (SLX4), mRNA.	1665	Interaction with PLK1 and TERF2-TERF2IP.|Interaction with SLX1.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						TTGATGTCGGGGGCCCTTGGT	0.622000								Direct reversal of damage						43			11		0	0	0.000673444	0	0
GALNT11	63917	broad.mit.edu	37	7	151797962	151797962	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:151797962C>T	uc010lqg.1	+	2	605	c.375C>T	c.(373-375)gaC>gaT	p.D125D	GALNT11_uc011kvm.1_Silent_p.D44D|GALNT11_uc003wku.2_Silent_p.D125D|GALNT11_uc003wkv.1_Silent_p.D125D|GALNT11_uc011kvn.1_Intron	NM_022087	NP_071370	Q8NCW6	GLT11_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 11 (GalNAc-T11) (GALNT11), mRNA.	125						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|prostate(5)|skin(2)	27	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.214)	OV - Ovarian serous cystadenocarcinoma(82;0.00168)	UCEC - Uterine corpus endometrioid carcinoma (81;0.177)|BRCA - Breast invasive adenocarcinoma(188;0.0932)		TTATCAGTGACCGCTTGGGCT	0.408000														89			30		0	0	0.00178596	0	0
LRP1B	53353	broad.mit.edu	37	2	141665489	141665489	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:141665489C>T	uc002tvj.1	-	21	4449	c.3477G>A	c.(3475-3477)ggG>ggA	p.G1159G	LRP1B_uc010fnl.1_Silent_p.G341G	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	1159	LDL-receptor class A 10.				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)		AATCCTTTTTCCCATTGCAGA	0.443000										TSP Lung(27;0.18)				134			57		0	0	0.00361006	0	0
ST18	9705	broad.mit.edu	37	8	53074052	53074052	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr8:53074052C>T	uc003xqz.2	-	8	1633	c.1477G>A	c.(1477-1479)Gaa>Aaa	p.E493K	ST18_uc011ldq.1_Missense_Mutation_p.E140K|ST18_uc011ldr.1_Missense_Mutation_p.E458K|ST18_uc011lds.1_Missense_Mutation_p.E398K|ST18_uc003xra.2_Missense_Mutation_p.E493K|ST18_uc003xrb.2_Missense_Mutation_p.E493K	NM_014682	NP_055497	O60284	ST18_HUMAN	Homo sapiens suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) (ST18), mRNA.	493						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				TTCTCTTGTTCTTTTGACACT	0.448000														65			32		0	0	0.00283554	0	0
PTPRF	5792	broad.mit.edu	37	1	44069127	44069127	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:44069127C>T	uc001cjr.3	+	14	2721	c.2381C>T	c.(2380-2382)tCc>tTc	p.S794F	PTPRF_uc001cjs.3_Missense_Mutation_p.S785F|PTPRF_uc001cju.3_Missense_Mutation_p.S365F|PTPRF_uc009vwt.3_Missense_Mutation_p.S356F|PTPRF_uc001cjv.3_Missense_Mutation_p.S254F|PTPRF_uc001cjw.3_Missense_Mutation_p.S20F	NM_002840	NP_002831	P10586	PTPRF_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, F (PTPRF), transcript variant 1, mRNA.	794	Fibronectin type-III 5.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				ACCACCTACTCCGTTACTGTT	0.582000														37			34		0	0	0.00375469	0	0
PGLYRP3	114771	broad.mit.edu	37	1	153276351	153276351	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:153276351G>A	uc001fbn.1	-	3	564	c.511C>T	c.(511-513)Cca>Tca	p.P171S		NM_052891	NP_443123	Q96LB9	PGRP3_HUMAN	Homo sapiens peptidoglycan recognition protein 3 (PGLYRP3), mRNA.	171					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(1)|liver(1)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	28	all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GGCATCACTGGATGTTGAGGG	0.532000														71			23		0	0	0.00332997	0	0
MSR1	4481	broad.mit.edu	37	8	16012621	16012621	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr8:16012621G>A	uc010lsu.3	-	5	968	c.904C>T	c.(904-906)Cga>Tga	p.R302*	MSR1_uc003wwz.3_Nonsense_Mutation_p.R284*|MSR1_uc003wxa.3_Nonsense_Mutation_p.R284*|MSR1_uc003wxb.3_Nonsense_Mutation_p.R284*|MSR1_uc011kxz.2_Nonsense_Mutation_p.R58*	NM_138715	NP_619729	P21757	MSRE_HUMAN	Homo sapiens macrophage scavenger receptor 1 (MSR1), transcript variant SR-AI, mRNA.	284	Collagen-like.				cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity			haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		GTGGGACCTCGATCTCCTTTT	0.393000														33			18		0	0	0.000958276	0	0
SLC45A4	57210	broad.mit.edu	37	8	142228933	142228933	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr8:142228933G>A	uc003ywd.1	-	3	961	c.653C>T	c.(652-654)cCc>cTc	p.P218L	SLC45A4_uc003ywc.1_Missense_Mutation_p.P218L|SLC45A4_uc010meq.1_Missense_Mutation_p.P216L	NM_001080431	NP_001073900	Q5BKX6	S45A4_HUMAN	Homo sapiens solute carrier family 45, member 4 (SLC45A4), mRNA.	269					transport	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			CAGGGCGCCGGGCTCCTCAGC	0.672000														35			18		0	0	0.00121646	0	0
BTBD1	53339	broad.mit.edu	37	15	83718904	83718904	+	Silent	SNP	A	G	G			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr15:83718904A>G	uc002bjn.3	-	2	788	c.585T>C	c.(583-585)ctT>ctC	p.L195L	BTBD1_uc002bjo.3_Silent_p.L195L	NM_025238	NP_079514	Q9H0C5	BTBD1_HUMAN	Homo sapiens BTB (POZ) domain containing 1 (BTBD1), transcript variant 1, mRNA.	195						cytoplasmic mRNA processing body|protein complex	protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	10				all cancers(203;0.000186)		AAAGACTAGCAAGCTGAGGTT	0.308000														24			46		0	0	0.00361006	0	0
SERPINB12	89777	broad.mit.edu	37	18	61234211	61234211	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr18:61234211C>T	uc010xeo.2	+	6	1245	c.1245C>T	c.(1243-1245)acC>acT	p.T415T	SERPINB12_uc010xen.2_Silent_p.T395T	NM_080474	NP_536722	Q96P63	SPB12_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 12 (SERPINB12), mRNA.	395					negative regulation of protein catabolic process|regulation of proteolysis	cytoplasm	enzyme binding|serine-type endopeptidase inhibitor activity			kidney(1)|large_intestine(5)|lung(19)|skin(1)	26						AAACCCAAACCATTCTCTTTT	0.453000														50			25		0	0	0.00106085	0	0
ZNF208	7757	broad.mit.edu	37	19	22156338	22156338	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:22156338C>T	uc021urr.1	-	3	1647	c.1498G>A	c.(1498-1500)Gaa>Aaa	p.E500K	ZNF208_uc002nqo.1_Intron	NM_007153	NP_009084			Homo sapiens zinc finger protein 208 (ZNF208), mRNA.											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				CCACATTCTTCACATTTGTAG	0.378000														54			25		0	0	0.000878237	0	0
SSH1	54434	broad.mit.edu	37	12	109210883	109210883	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:109210883A>G	uc001tnm.3	-	4	419	c.332T>C	c.(331-333)gTg>gCg	p.V111A	SSH1_uc010sxg.2_Missense_Mutation_p.V122A|SSH1_uc001tnn.4_Missense_Mutation_p.V111A|SSH1_uc001tno.1_Missense_Mutation_p.V38A	NM_018984	NP_061857	Q8WYL5	SSH1_HUMAN	Homo sapiens slingshot homolog 1 (Drosophila) (SSH1), transcript variant 1, mRNA.	111					actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly	cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GCTGCTGTACACCACCACCAT	0.597000														46			21		0	0	0.00121646	0	0
AKAP6	9472	broad.mit.edu	37	14	33069899	33069899	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr14:33069899G>A	uc001wrq.3	+	6	2801	c.2631G>A	c.(2629-2631)cgG>cgA	p.R877R	AKAP6_uc010aml.3_Silent_p.R874R	NM_004274	NP_004265	Q13023	AKAP6_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 6 (AKAP6), mRNA.	877					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		AAATCAAACGGCAGCACAGCT	0.532000														24			22		0	0	0.00332997	0	0
SVEP1	79987	broad.mit.edu	37	9	113251984	113251984	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr9:113251984C>T	uc010mtz.3	-	8	2213	c.1876G>A	c.(1876-1878)Gca>Aca	p.A626T	SVEP1_uc010mua.1_Missense_Mutation_p.A626T|SVEP1_uc004beu.2_Missense_Mutation_p.A626T	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA.	626	HYR 1.				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						AGGTCAGTTGCCGTGTATACG	0.438000														55			21		0	0	0.00152264	0	0
DARC	2532	broad.mit.edu	37	1	159176200	159176200	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:159176200G>A	uc001ftp.4	+	0	1152	c.977G>A	c.(976-978)gGa>gAa	p.G326E	DARC_uc001fto.3_Missense_Mutation_p.G324E	NM_001122951	NP_001116423	Q16570	DUFFY_HUMAN	Homo sapiens Duffy blood group, chemokine receptor (DARC), transcript variant 1, mRNA.	324			S -> F (in dbSNP:rs17851570).		defense response	integral to membrane|plasma membrane	C-C chemokine binding|chemokine receptor activity			large_intestine(2)|lung(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	8	all_hematologic(112;0.0429)					CTCCCTGAAGGATGGTCTTCT	0.562000														180			84		0	0	0.00361006	0	0
PKHD1	5314	broad.mit.edu	37	6	51890234	51890234	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:51890234G>A	uc003pah.1	-	31	4650	c.4374C>T	c.(4372-4374)tcC>tcT	p.S1458S	PKHD1_uc003pai.3_Silent_p.S1458S	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	1458	IPT/TIG 9.				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)					TGACGTTCAGGGAGAAGGAAG	0.522000														28			16		0	0	0.00316338	0	0
CYP2C8	1558	broad.mit.edu	37	10	96829085	96829085	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr10:96829085C>T	uc001kkb.3	-	0	170	c.75G>A	c.(73-75)agG>agA	p.R25R	CYP2C8_uc010qoa.2_5'UTR|CYP2C8_uc010qoc.2_5'UTR|CYP2C8_uc001kkc.3_Non-coding_Transcript|CYP2C8_uc010qob.2_5'UTR|CYP2C8_uc021pwl.1_5'UTR|CYP2C8_uc010qod.1_5'UTR	NM_000770	NP_000761	P10632	CP2C8_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 8 (CYP2C8), transcript variant 1, mRNA.	25					exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21		Colorectal(252;0.0397)		all cancers(201;6.21e-05)	Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198)	GCTTCCTTCTCCTACAGCTCT	0.433000														16			20		0	0	0.00121646	0	0
TAT	6898	broad.mit.edu	37	16	71610138	71610138	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr16:71610138C>T	uc002fap.2	-	1	280	c.181G>A	c.(181-183)Gac>Aac	p.D61N	TAT_uc002faq.3_Missense_Mutation_p.D61N|TAT_uc002far.3_Missense_Mutation_p.D61N	NM_000353	NP_000344	P17735	ATTY_HUMAN	Homo sapiens tyrosine aminotransferase (TAT), nuclear gene encoding mitochondrial protein, mRNA.	61					2-oxoglutarate metabolic process|L-phenylalanine catabolic process|glutamate metabolic process|tyrosine catabolic process	cytosol	1-aminocyclopropane-1-carboxylate synthase activity|L-tyrosine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(3)	29		Ovarian(137;0.125)		Kidney(780;0.0157)	L-Glutamic Acid(DB00142)|L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Pyridoxal Phosphate(DB00114)	TTCATGTTGTCCACAATGGCT	0.498000														8			10		0	0	0.000978159	0	0
FAM75A6	389730	broad.mit.edu	37	9	43628658	43628658	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr9:43628658G>A	uc011lrb.2	-	2	313	c.284C>T	c.(283-285)tCg>tTg	p.S95L		NM_001145196	NP_001138668	Q5VVP1	F75A6_HUMAN	Homo sapiens family with sequence similarity 75, member A6 (FAM75A6), mRNA.	95						integral to membrane				breast(2)|endometrium(3)|kidney(4)|lung(36)|prostate(4)|skin(2)|soft_tissue(1)|stomach(1)|urinary_tract(1)	54						AAGAAGGTCCGAAGTCTCCTC	0.612000														91			42		0	0	0.00361006	0	0
MUM1L1	139221	broad.mit.edu	37	X	105449605	105449605	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chrX:105449605A>T	uc022cca.1	+	0	180	c.180A>T	c.(178-180)aaA>aaT	p.K60N	MUM1L1_uc004emg.2_Missense_Mutation_p.K60N|MUM1L1_uc004emf.2_Missense_Mutation_p.K60N	NM_001171020	NP_001164491	Q5H9M0	MUML1_HUMAN	Homo sapiens melanoma associated antigen (mutated) 1-like 1 (MUM1L1), transcript variant 1, mRNA.	60										autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						TCCTAAATAAATCTCAAATTG	0.388000														9			11		0	0	0.000978159	0	0
ANXA10	11199	broad.mit.edu	37	4	169099070	169099070	+	Silent	SNP	G	A	A	rs145284874	byFrequency	TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr4:169099070G>A	uc003irm.3	+	7	728	c.564G>A	c.(562-564)acG>acA	p.T188T	ANXA10_uc003irn.3_Silent_p.T60T	NM_007193	NP_009124	Q9UJ72	ANX10_HUMAN	Homo sapiens annexin A10 (ANXA10), mRNA.	188							calcium ion binding|calcium-dependent phospholipid binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(2)	16		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0325)		AGCAGAAGACGGGGGAGCACA	0.502000														49			26		0	0	0.00127121	0	0
VSTM1	284415	broad.mit.edu	37	19	54545553	54545553	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:54545553G>A	uc002qcw.4	-	4	641	c.465C>T	c.(463-465)atC>atT	p.I155I	VSTM1_uc021vbe.1_Non-coding_Transcript|VSTM1_uc021vbf.1_Silent_p.I67I|VSTM1_uc002qcx.4_Intron|VSTM1_uc010erb.3_Non-coding_Transcript|VSTM1_uc021vbg.1_Silent_p.I35I	NM_198481	NP_940883	Q6UX27	VSTM1_HUMAN	Homo sapiens V-set and transmembrane domain containing 1 (VSTM1), mRNA.	155						integral to membrane				breast(1)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.165)		ATCTGTAGATGATGAAGACTG	0.502000														24			8		0	0	0.00307968	0	0
CYR61	3491	broad.mit.edu	37	1	86046709	86046709	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:86046709C>T	uc001dle.3	+	0	266	c.42C>T	c.(40-42)acC>acT	p.T14T	DDAH1_uc001dlc.3_5'Flank|CYR61_uc021opf.1_5'Flank	NM_001554	NP_001545	O00622	CYR61_HUMAN	Homo sapiens cysteine-rich, angiogenic inducer, 61 (CYR61), mRNA.	14					cell proliferation|chemotaxis|positive regulation of BMP signaling pathway|positive regulation of cell migration|positive regulation of osteoblast differentiation|positive regulation of osteoblast proliferation|positive regulation of protein kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of ERK1 and ERK2 cascade|regulation of cell growth|wound healing, spreading of cells	extracellular region	heparin binding|insulin-like growth factor binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|prostate(1)	5				all cancers(265;0.0216)|Epithelial(280;0.0441)		TAGTCGTCACCCTTCTCCACT	0.652000														15			5		0	0	0.00198382	0	0
MECOM	2122	broad.mit.edu	37	3	168810796	168810796	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:168810796G>A	uc011bpj.1	-	13	3517	c.3114C>T	c.(3112-3114)ttC>ttT	p.F1038F	MECOM_uc010hwk.1_Silent_p.F864F|MECOM_uc003ffj.3_Silent_p.F915F|MECOM_uc003ffi.3_Silent_p.F850F|MECOM_uc011bpi.1_Silent_p.F842F|MECOM_uc003ffn.3_Silent_p.F850F|MECOM_uc003ffk.2_Silent_p.F841F|MECOM_uc003ffl.2_Silent_p.F1001F|MECOM_uc011bpk.1_Silent_p.F850F	NM_004991	NP_004982	Q13465	MDS1_HUMAN	Homo sapiens MDS1 and EVI1 complex locus (MECOM), transcript variant 4, mRNA.	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						TGTTCCCAATGAAATTTCGAA	0.433000														69			34		0	0	0.00375469	0	0
RAP1GAP	5909	broad.mit.edu	37	1	21940530	21940530	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:21940530G>A	uc001bev.3	-	4	362	c.344C>T	c.(343-345)tCa>tTa	p.S115L	RAP1GAP_uc001bew.3_Missense_Mutation_p.S179L|RAP1GAP_uc001bey.3_Missense_Mutation_p.S115L|RAP1GAP_uc001bex.3_Missense_Mutation_p.S115L	NM_001145657	NP_001139129	P47736	RPGP1_HUMAN	Homo sapiens RAP1 GTPase activating protein (RAP1GAP), transcript variant 2, mRNA.	115					regulation of Ras GTPase activity|signal transduction	Golgi membrane|cytosol|membrane fraction	GTPase activator activity|GTPase activity|Ras GTPase binding|protein homodimerization activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	17		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)		GTACTTGAGTGAGAAGACAAG	0.607000														5			5		0	0	0.00116845	0	0
ASXL3	80816	broad.mit.edu	37	18	31323767	31323767	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr18:31323767G>A	uc010dmg.1	+	11	4010	c.3955G>A	c.(3955-3957)Gat>Aat	p.D1319N	ASXL3_uc002kxq.2_Missense_Mutation_p.D1026N	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA.	1319	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						AAGCTCCATGGATGATAAGCA	0.453000														127			60		0	0	0.00361006	0	0
MUC16	94025	broad.mit.edu	37	19	9065348	9065348	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:9065348C>T	uc002mkp.3	-	2	22302	c.22098G>A	c.(22096-22098)gaG>gaA	p.E7366E		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	7368	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.E7366K(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GAGTGGTTATCTCTGAGTGTG	0.498000														40			7		0	0	0.00198382	0	0
OR4N2	390429	broad.mit.edu	37	14	20295729	20295729	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr14:20295729G>A	uc010tkv.2	+	0	122	c.122G>A	c.(121-123)gGa>gAa	p.G41E		NM_001004723	NP_001004723	Q8NGD1	OR4N2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily N, member 2 (OR4N2), mRNA.	41					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ATCCTCCCTGGAAATTTTCTC	0.448000														84			34		0	0	0.00285205	0	0
DNAH2	146754	broad.mit.edu	37	17	7701560	7701560	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr17:7701560C>T	uc002giu.1	+	52	8330	c.8316C>T	c.(8314-8316)gcC>gcT	p.A2772A		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	2772	AAA 4 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				AGAGTCTGGCCCGCCTGGCTT	0.612000														17			22		0	0	0.00332997	0	0
FLG	2312	broad.mit.edu	37	1	152280808	152280808	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:152280808C>T	uc001ezu.1	-	2	6590	c.6554G>A	c.(6553-6555)gGa>gAa	p.G2185E		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	2185	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACTTCTGGATCCTGACTGCCC	0.537000									Ichthyosis					369			34		0	0	0.00361006	0	0
CHST15	51363	broad.mit.edu	37	10	125805483	125805483	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr10:125805483G>A	uc001lhn.3	-	1	980	c.246C>T	c.(244-246)ctC>ctT	p.L82L	CHST15_uc001lhm.3_Silent_p.L82L|CHST15_uc010que.2_Silent_p.L82L|CHST15_uc001lho.3_Silent_p.L82L	NM_015892	NP_056976	Q7LFX5	CHSTF_HUMAN	Homo sapiens carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15 (CHST15), transcript variant 1, mRNA.	82					hexose biosynthetic process	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity			endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1)	26						GTCCAAAAACGAGGCTACATC	0.473000														21			21		0	0	0.00152264	0	0
COL14A1	7373	broad.mit.edu	37	8	121298182	121298182	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr8:121298182G>A	uc003yox.3	+	32	4315	c.4050G>A	c.(4048-4050)agG>agA	p.R1350R	COL14A1_uc003yoz.3_Silent_p.R315R	NM_021110	NP_066933	Q05707	COEA1_HUMAN	Homo sapiens collagen, type XIV, alpha 1 (COL14A1), mRNA.	1350	Nonhelical region (NC4).|TSP N-terminal.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			CTGAAATTAGGAAAATTTTTT	0.303000														40			15		0	0	0.00400662	0	0
DSC3	1825	broad.mit.edu	37	18	28574293	28574293	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr18:28574293C>T	uc002kwj.4	-	15	2694	c.2539G>A	c.(2539-2541)Gat>Aat	p.D847N	DSC3_uc002kwi.4_3'UTR	NM_001941	NP_001932	Q14574	DSC3_HUMAN	Homo sapiens desmocollin 3 (DSC3), transcript variant Dsc3a, mRNA.	847					homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			AGGACATAATCTTGGGATGGC	0.358000														42			21		0	0	0.00229938	0	0
LTN1	26046	broad.mit.edu	37	21	30365209	30365209	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr21:30365209G>A	uc002ymr.2	-	0	69	c.56C>T	c.(55-57)tCt>tTt	p.S19F		NM_015565	NP_056380	O94822	LTN1_HUMAN	Homo sapiens listerin E3 ubiquitin protein ligase 1 (LTN1), mRNA.	0							ligase activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						GGCGGCGGAAGAGGACACCCT	0.632000														6			4		0	0	0.00024832	0	0
BLM	641	broad.mit.edu	37	15	91292892	91292893	+	Missense_Mutation	DNP	CG	AT	AT			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr15:91292892_91292893CG>AT	uc002bpr.3	+	2	491_492	c.394_395CG>AT	c.(394-396)cgg>ATg	p.R132M	BLM_uc010uqh.2_Missense_Mutation_p.R132M|BLM_uc010uqi.2_5'UTR|BLM_uc010bnx.3_Missense_Mutation_p.R132M	NM_000057	NP_000048	P54132	BLM_HUMAN	Homo sapiens Bloom syndrome, RecQ helicase-like (BLM), mRNA.	132					G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|double-strand break repair via homologous recombination|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray	PML body|cytoplasm|lateral element|nuclear matrix|nucleolus	ATP binding|DNA strand annealing activity|G-quadruplex DNA binding|bubble DNA binding|four-way junction helicase activity|p53 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			AAAGAAATCCCGGGATACTGCT	0.386000			"""Mis, N, F"""			"""leukemia, lymphoma, skin squamous cell , other cancers"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome					610			17		0	0	6.4e-05	0	0
SLC17A4	10050	broad.mit.edu	37	6	25773766	25773766	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:25773766C>T	uc003nfe.3	+	7	970	c.851C>T	c.(850-852)cCc>cTc	p.P284L	SLC17A4_uc011djx.2_Intron|SLC17A4_uc003nff.1_Missense_Mutation_p.P45L|SLC17A4_uc003nfg.3_Missense_Mutation_p.P221L|SLC17A4_uc010jqa.3_5'UTR	NM_005495	NP_005486	Q9Y2C5	S17A4_HUMAN	Homo sapiens solute carrier family 17 (sodium phosphate), member 4 (SLC17A4), mRNA.	284					phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity			breast(4)|endometrium(1)|kidney(4)|large_intestine(3)|lung(21)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TGGTCTCTTCCCATTAGGGCT	0.458000														59			21		0	0	0.00152264	0	0
PLOD2	5352	broad.mit.edu	37	3	145822082	145822082	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:145822082G>A	uc003evr.1	-	5	1169	c.663C>T	c.(661-663)acC>acT	p.T221T	PLOD2_uc011bnm.1_Silent_p.T166T|PLOD2_uc003evs.1_Silent_p.T221T	NM_182943	NP_891988	O00469	PLOD2_HUMAN	Homo sapiens procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2 (PLOD2), transcript variant 1, mRNA.	221					protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29					Vitamin C(DB00126)	CTCCATTTAAGGTCTGGAAAA	0.328000														74			30		0	0	0.00428921	0	0
MYBPC2	4606	broad.mit.edu	37	19	50964891	50964891	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:50964891C>T	uc002psf.2	+	24	3075	c.3024C>T	c.(3022-3024)acC>acT	p.T1008T		NM_004533	NP_004524	Q14324	MYPC2_HUMAN	Homo sapiens myosin binding protein C, fast type (MYBPC2), mRNA.	1008	Fibronectin type-III 3.				cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		GAGTTTACACCGAGAACATCT	0.537000											OREG0025636	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		10			4		0	0	0.000602214	0	0
OR14C36	127066	broad.mit.edu	37	1	248512472	248512472	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:248512472G>A	uc010pzl.2	+	0	396	c.396G>A	c.(394-396)gtG>gtA	p.V132V		NM_001001918	NP_001001918	Q8NHC7	O14CZ_HUMAN	Homo sapiens olfactory receptor, family 14, subfamily C, member 36 (OR14C36), mRNA.	132					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2)	43						ACTACCCTGTGATCGTGAACT	0.507000														34			19		0	0	0.00229938	0	0
SLC30A9	10463	broad.mit.edu	37	4	42037347	42037347	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr4:42037347C>T	uc003gwl.3	+	6	812	c.666C>T	c.(664-666)acC>acT	p.T222T	SLC30A9_uc011byx.2_5'UTR	NM_006345	NP_006336	Q6PML9	ZNT9_HUMAN	Homo sapiens solute carrier family 30 (zinc transporter), member 9 (SLC30A9), mRNA.	222					nucleotide-excision repair|zinc ion transport	cytoskeleton|integral to membrane|nucleus	cation transmembrane transporter activity|nucleotide binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TGGGAAATACCAAGGTATGGA	0.303000														55			20		0	0	0.00278032	0	0
DNAH5	1767	broad.mit.edu	37	5	13776628	13776628	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:13776628C>T	uc003jfd.2	-	54	9335	c.9293G>A	c.(9292-9294)aGa>aAa	p.R3098K		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3098	AAA 4 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CTTCAAAGCTCTGTTTCGAAA	0.468000									Kartagener syndrome					71			31		0	0	0.00178596	0	0
ZNF317	57693	broad.mit.edu	37	19	9267379	9267379	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:9267379C>T	uc002mku.3	+	2	422	c.117C>T	c.(115-117)ttC>ttT	p.F39F	ZNF317_uc010xkm.2_Missense_Mutation_p.R81C|ZNF317_uc002mkv.3_5'UTR|ZNF317_uc002mkw.3_Silent_p.F39F|ZNF317_uc002mkx.3_5'UTR|ZNF317_uc002mky.3_5'UTR	NM_020933	NP_065984	Q96PQ6	ZN317_HUMAN	Homo sapiens zinc finger protein 317 (ZNF317), transcript variant 1, mRNA.	39					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	27						TGGACCTGTTCGTGTGCAGTG	0.552000														60			29		0	0	0.00283554	0	0
PTGFR	5737	broad.mit.edu	37	1	78958515	78958515	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:78958515C>T	uc001din.3	+	1	353	c.87C>T	c.(85-87)tcC>tcT	p.S29S	PTGFR_uc001dim.3_Silent_p.S29S	NM_000959	NP_000950	P43088	PF2R_HUMAN	Homo sapiens prostaglandin F receptor (FP) (PTGFR), transcript variant 1, mRNA.	29					parturition	extracellular region|integral to plasma membrane	prostaglandin F receptor activity	p.S29F(1)		breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	33				Colorectal(170;0.248)	Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287)	ACCGGCTTTCCGTATTTTTTT	0.438000														80			25		0	0	0.00395357	0	0
TCEB3B	51224	broad.mit.edu	37	18	44559961	44559961	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr18:44559961G>A	uc002lcr.1	-	0	2028	c.1675C>T	c.(1675-1677)Ctg>Ttg	p.L559L	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.3_Intron	NM_016427	NP_057511	Q8IYF1	ELOA2_HUMAN	Homo sapiens transcription elongation factor B polypeptide 3B (elongin A2) (TCEB3B), mRNA.	559	Activation domain (By similarity).				regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						CACCCTTCCAGAACAGGTTCA	0.557000														21			20		0	0	0.00121646	0	0
MAGEA6	4105	broad.mit.edu	37	X	151870042	151870042	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chrX:151870042G>A	uc022chf.1	+	0	732	c.732G>A	c.(730-732)aaG>aaA	p.K244K	MAGEA6_uc004ffq.1_Silent_p.K244K|MAGEA6_uc004ffr.1_Silent_p.K244K	NM_175868	NP_787064	P43360	MAGA6_HUMAN	Homo sapiens melanoma antigen family A, 6 (MAGEA6), transcript variant 2, mRNA.	244	MAGE.						protein binding			breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					ATCCCAAGAAGCTGCTCACCC	0.562000														33			45		0	0	0.00285205	0	0
CNTN5	53942	broad.mit.edu	37	11	99827575	99827575	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:99827575C>T	uc001pga.3	+	7	1215	c.711C>T	c.(709-711)tcC>tcT	p.S237S	CNTN5_uc009ywv.2_Silent_p.S237S|CNTN5_uc001pfz.3_Silent_p.S237S|CNTN5_uc021qpb.1_Silent_p.S237S|CNTN5_uc021qpc.1_Silent_p.S163S	NM_014361	NP_055176	O94779	CNTN5_HUMAN	Homo sapiens contactin 5 (CNTN5), transcript variant 1, mRNA.	237	Ig-like C2-type 2.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		AGTTCCCTTCCTTTGTGGCGG	0.403000														26			19		0	0	0.00278032	0	0
ZNF536	9745	broad.mit.edu	37	19	30934939	30934939	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:30934939C>T	uc002nsu.1	+	1	608	c.470C>T	c.(469-471)cCc>cTc	p.P157L	ZNF536_uc010edd.1_Missense_Mutation_p.P157L	NM_014717	NP_055532	O15090	ZN536_HUMAN	Homo sapiens zinc finger protein 536 (ZNF536), mRNA.	157					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.P157P(1)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GGCGAGAAGCCCTTCAAGTGC	0.652000														24			5		0	0	0.00116845	0	0
GABRA3	2556	broad.mit.edu	37	X	151532989	151532989	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chrX:151532989G>A	uc010ntk.1	-	1	294	c.54C>T	c.(52-54)ttC>ttT	p.F18F		NM_000808	NP_000799	P34903	GBRA3_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 3 (GABRA3), mRNA.	18					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|protein binding	p.L17I(1)		breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6)	37	Acute lymphoblastic leukemia(192;6.56e-05)				Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TATTAATCAGGAAAAGAATCC	0.453000														26			40		0	0	0.00148497	0	0
ZNF479	90827	broad.mit.edu	37	7	57187836	57187836	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:57187836C>T	uc010kzo.3	-	4	1557	c.1286G>A	c.(1285-1287)aGa>aAa	p.R429K		NM_033273	NP_150376	Q96JC4	ZN479_HUMAN	Homo sapiens zinc finger protein 479 (ZNF479), mRNA.	429					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			AGTATGAATTCTCTTGTGGTC	0.433000														38			14		0	0	0.00188189	0	0
MYF6	4618	broad.mit.edu	37	12	81101550	81101550	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:81101550G>A	uc001szf.2	+	0	143	c.52G>A	c.(52-54)Gaa>Aaa	p.E18K		NM_002469	NP_002460	P23409	MYF6_HUMAN	Homo sapiens myogenic factor 6 (herculin) (MYF6), mRNA.	18					muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity	p.G17G(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|skin(1)	26						CTTGGATGGGGAAAATGTTAC	0.502000														63			20		0	0	0.000958276	0	0
BRDT	676	broad.mit.edu	37	1	92442946	92442946	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:92442946T>A	uc001dol.4	+	6	1383	c.965T>A	c.(964-966)aTt>aAt	p.I322N	BRDT_uc010osz.2_Missense_Mutation_p.I326N|BRDT_uc001dok.4_Missense_Mutation_p.I322N|BRDT_uc009wdf.3_Missense_Mutation_p.I249N|BRDT_uc010otb.2_Missense_Mutation_p.I276N|BRDT_uc010ota.2_Missense_Mutation_p.I276N|BRDT_uc001dom.4_Missense_Mutation_p.I322N	NM_001242805	NP_001229734	Q58F21	BRDT_HUMAN	Homo sapiens bromodomain, testis-specific (BRDT), transcript variant 3, mRNA.	322	Bromo 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity	p.T321A(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		CTTGGAACTATTAAGGTAAAT	0.318000														52			36		0	0	0.00375469	0	0
SEC14L4	284904	broad.mit.edu	37	22	30887684	30887684	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr22:30887684G>A	uc003aid.2	-	10	1057	c.957C>T	c.(955-957)ttC>ttT	p.F319F	SEC14L4_uc011akz.1_Silent_p.F319F|SEC14L4_uc003aie.2_Silent_p.F304F|SEC14L4_uc003aif.2_Silent_p.F265F	NM_174977	NP_777637	Q9UDX3	S14L4_HUMAN	Homo sapiens SEC14-like 4 (S. cerevisiae) (SEC14L4), transcript variant 1, mRNA.	319	GOLD.					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)	TGGTCTTCAGGAAAACCCCAA	0.627000														65			15		0	0	0.000958276	0	0
RAB6C	84084	broad.mit.edu	37	2	130738127	130738127	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:130738127G>A	uc002tpx.1	+	0	893	c.439G>A	c.(439-441)Ggg>Agg	p.G147R	LOC100131320_uc002tpw.1_5'Flank	NM_032144	NP_115520	Q9H0N0	RAB6C_HUMAN	Homo sapiens RAB6C, member RAS oncogene family (RAB6C), mRNA.	147					protein transport|response to drug|small GTPase mediated signal transduction		GTP binding|GTPase activity			large_intestine(2)|lung(1)|skin(1)|urinary_tract(1)	5	Colorectal(110;0.1)					GAAAGCCAAAGGGCTGAATGT	0.453000														143			56		0	0	0.00361006	0	0
GRM4	2914	broad.mit.edu	37	6	34101135	34101135	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:34101135C>T	uc003oir.4	-	0	502	c.139G>A	c.(139-141)Ggg>Agg	p.G47R	GRM4_uc011dsn.2_Missense_Mutation_p.G47R|GRM4_uc010jvh.3_Missense_Mutation_p.G47R|GRM4_uc010jvi.3_5'UTR|GRM4_uc010jvk.1_5'UTR	NM_000841	NP_000832	Q14833	GRM4_HUMAN	Homo sapiens glutamate receptor, metabotropic 4 (GRM4), mRNA.	47					activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48					L-Glutamic Acid(DB00142)	GTGATGTCCCCATCTATGCGG	0.607000														36			11		0	0	0.00136819	0	0
LOC283788	283788	broad.mit.edu	37	GL000219.1	83245	83245	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chrGL000219.1:83245T>C	uc022brb.1	-	3	422	c.109A>G	c.(109-111)Agt>Ggt	p.S37G	LOC283788_uc011mfq.2_Non-coding_Transcript					Homo sapiens FSHD region gene 1 pseudogene (LOC283788), non-coding RNA.																		GCTGTTTTACTTTTTGCTTCT	0.363000														14			3		0	0	0.00024832	0	0
SLC6A4	6532	broad.mit.edu	37	17	28543189	28543189	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr17:28543189G>A	uc002hey.4	-	6	1427	c.883C>T	c.(883-885)Ctg>Ttg	p.L295L		NM_001045	NP_001036	P31645	SC6A4_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, serotonin), member 4 (SLC6A4), mRNA.	295					response to toxin|serotonin uptake|thalamus development	cytosol|endomembrane system|endosome membrane|membrane raft	Rab GTPase binding|actin filament binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4)	25					Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832)	CTCACCAGCAGGACAGAAAGG	0.557000														37			39		0	0	0.00195071	0	0
RAB3IP	117177	broad.mit.edu	37	12	70206777	70206777	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:70206777C>T	uc001svp.3	+	9	1759	c.1312C>T	c.(1312-1314)Cga>Tga	p.R438*	RAB3IP_uc001svm.3_Nonsense_Mutation_p.R422*|RAB3IP_uc001svn.3_Silent_p.F388F|RAB3IP_uc001svo.3_Non-coding_Transcript|RAB3IP_uc001svq.3_Silent_p.F404F|RAB3IP_uc001svs.3_Non-coding_Transcript|RAB3IP_uc001svt.3_Nonsense_Mutation_p.R216*	NM_175623	NP_001019818	Q96QF0	RAB3I_HUMAN	Homo sapiens RAB3A interacting protein (rabin3) (RAB3IP), transcript variant alpha 2, mRNA.	438					Golgi to plasma membrane transport|cilium assembly|protein localization to organelle|protein transport	actin cortical patch|centrosome|cytosol|lamellipodium|microtubule basal body|nucleus	guanyl-nucleotide exchange factor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22	Esophageal squamous(21;0.187)		Lung(24;0.000381)|OV - Ovarian serous cystadenocarcinoma(12;0.00168)|STAD - Stomach adenocarcinoma(21;0.00694)			TACATACATTCGATACATTCA	0.333000														89			41		0	0	0.00361006	0	0
CD93	22918	broad.mit.edu	37	20	23064997	23064997	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr20:23064997C>T	uc002wsv.3	-	0	1981	c.1833G>A	c.(1831-1833)gcG>gcA	p.A611A		NM_012072	NP_036204	Q9NPY3	C1QR1_HUMAN	Homo sapiens CD93 molecule (CD93), mRNA.	611					cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					CCTCCCTCTTCGCTCTCCGCT	0.572000														85			41		0	0	0.00170553	0	0
AKNA	80709	broad.mit.edu	37	9	117143571	117143571	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr9:117143571G>A	uc004biq.3	-	0	178	c.43C>T	c.(43-45)Ctg>Ttg	p.L15L	AKNA_uc004bir.3_Silent_p.L15L|AKNA_uc004bis.3_Silent_p.L15L|AKNA_uc010mve.2_Intron|AKNA_uc004biu.1_5'UTR|AKNA_uc004biv.1_Silent_p.L15L|AKNA_uc004biw.1_Silent_p.L15L	NM_030767	NP_110394	Q7Z591	AKNA_HUMAN	Homo sapiens AT-hook transcription factor (AKNA), mRNA.	15					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						CCCTTCCCCAGGCCAGGCTCA	0.632000														14			4		0	0	0.00024832	0	0
PCK2	5106	broad.mit.edu	37	14	24567503	24567503	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr14:24567503C>T	uc001wlt.3	+	2	499	c.367C>T	c.(367-369)Ccg>Tcg	p.P123S	NRL_uc001wlq.3_Intron|PCK2_uc001wls.3_Missense_Mutation_p.P123S|PCK2_uc010tnw.2_5'UTR|PCK2_uc010ald.2_5'UTR|PCK2_uc010ale.2_5'UTR|PCK2_uc010tnx.2_5'UTR|PCK2_uc001wlu.4_5'UTR	NM_004563	NP_004554	Q16822	PCKGM_HUMAN	Homo sapiens phosphoenolpyruvate carboxykinase 2 (mitochondrial) (PCK2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	123					gluconeogenesis	mitochondrial matrix	GTP binding|metal ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			breast(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(265;0.0184)		GGTACAACTCCCGCCTGGTGG	0.617000														10			7		0	0	0.00307968	0	0
GPN2	54707	broad.mit.edu	37	1	27216268	27216268	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:27216268A>C	uc001bnd.1	-	0	602	c.320T>G	c.(319-321)tTc>tGc	p.F107C	BC016143_uc021ojq.1_Intron	NM_018066	NP_060536	Q9H9Y4	GPN2_HUMAN	Homo sapiens GPN-loop GTPase 2 (GPN2), mRNA.	107							GTP binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9						GTCGAAGAGGAAGTAGTGGCC	0.662000														50			44		0	0	0.00361006	0	0
GALNT6	11226	broad.mit.edu	37	12	51753032	51753032	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:51753032G>A	uc001ryk.2	-	6	1477	c.1252C>T	c.(1252-1254)Ccc>Tcc	p.P418S	GALNT6_uc009zma.1_Non-coding_Transcript|GALNT6_uc001ryl.1_Missense_Mutation_p.P418S|GALNT6_uc001ryj.1_5'UTR	NM_007210	NP_009141	Q8NCL4	GALT6_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6) (GALNT6), mRNA.	418					protein O-linked glycosylation	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						GTGCCCTTGGGGAAGGTGTGG	0.557000														112			41		0	0	0.00285205	0	0
L32131	0	broad.mit.edu	37	17	58511054	58511054	+	RNA	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr17:58511054G>A	uc002iyr.1	-	0		c.2304C>T								Homo sapiens cDNA FLJ33664 fis, clone BRAMY2027451, moderately similar to 60S RIBOSOMAL PROTEIN L12.																		GTTGTCAAATGATCCTTTATT	0.388000														12			4		0	0	0.000602214	0	0
NELL1	4745	broad.mit.edu	37	11	21556021	21556021	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:21556021G>A	uc009yid.3	+	16	1984	c.1831G>A	c.(1831-1833)Gac>Aac	p.D611N	NELL1_uc010rdp.2_Intron|NELL1_uc001mqe.3_Missense_Mutation_p.D583N|NELL1_uc001mqf.3_Intron|NELL1_uc010rdo.2_Missense_Mutation_p.D526N|NELL1_uc001mqh.3_Missense_Mutation_p.M192I	NM_006157	NP_006148	Q92832	NELL1_HUMAN	Homo sapiens NEL-like 1 (chicken) (NELL1), transcript variant 1, mRNA.	583	EGF-like 6; calcium-binding (Potential).				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						CGGTTTCCATGACGATGGGAC	0.527000														42			20		0	0	0.00332997	0	0
PRSS38	339501	broad.mit.edu	37	1	228033728	228033728	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:228033728G>A	uc001hrh.3	+	4	800	c.800G>A	c.(799-801)cGa>cAa	p.R267Q		NM_183062	NP_898885	A1L453	PRS38_HUMAN	Homo sapiens protease, serine, 38 (PRSS38), mRNA.	267	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						AGCTGGGGCCGAGGCTGCTCC	0.512000														30			18		0	0	0.00074312	0	0
KCNIP1	30820	broad.mit.edu	37	5	169931626	169931626	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:169931626G>A	uc003mas.3	+	0	579	c.50G>A	c.(49-51)cGa>cAa	p.R17Q	KCNIP1_uc003map.3_Intron|KCNIP1_uc003mat.3_Missense_Mutation_p.R17Q|KCNIP1_uc010jjp.3_5'UTR|KCNIP1_uc010jjq.3_Missense_Mutation_p.R17Q	NM_001034837	NP_001030009	Q9NZI2	KCIP1_HUMAN	Homo sapiens Kv channel interacting protein 1 (KCNIP1), transcript variant 1, mRNA.	17					detection of calcium ion|signal transduction|synaptic transmission	plasma membrane	potassium channel activity|voltage-gated ion channel activity			autonomic_ganglia(1)|large_intestine(7)|lung(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	18	Renal(175;0.000159)|Lung NSC(126;0.0191)|all_lung(126;0.0297)	Medulloblastoma(196;0.0109)|all_neural(177;0.0177)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AAACAAAGGCGACCCTCGAAA	0.632000														43			16		0	0	0.00400662	0	0
IL4R	3566	broad.mit.edu	37	16	27363934	27363934	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr16:27363934C>T	uc002don.3	+	6	829	c.587C>T	c.(586-588)tCc>tTc	p.S196F	IL4R_uc002dom.3_Missense_Mutation_p.S196F|IL4R_uc002dop.4_Missense_Mutation_p.S181F|IL4R_uc010bxy.3_Missense_Mutation_p.S196F|IL4R_uc002doo.3_Missense_Mutation_p.S36F	NM_000418	NP_000409	P24394	IL4RA_HUMAN	Homo sapiens interleukin 4 receptor (IL4R), transcript variant 1, mRNA.	196	Fibronectin type-III.				immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity	p.S196F(4)		breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						TCTGGGATTTCCTACAGGGCA	0.557000														76			27		0	0	0.0024448	0	0
PBX1	5087	broad.mit.edu	37	1	164790786	164790786	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:164790786C>T	uc001gct.3	+	7	1586	c.1123C>T	c.(1123-1125)Cgc>Tgc	p.R375C	PBX1_uc010pku.2_Missense_Mutation_p.R375C|PBX1_uc001gcs.3_Missense_Mutation_p.S337L|PBX1_uc010pkv.2_Missense_Mutation_p.R292C|PBX1_uc010pkw.1_Missense_Mutation_p.R265C	NM_002585	NP_002576	P40424	PBX1_HUMAN	Homo sapiens pre-B-cell leukemia homeobox 1 (PBX1), transcript variant 1, mRNA.	375					negative regulation of sequence-specific DNA binding transcription factor activity|sex differentiation|steroid biosynthetic process	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription factor binding		EWSR1/PBX1(3)	large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	4						GGATACCCTTCGCCATGTTAT	0.498000			T	"""TCF3, EWSR1"""	"""pre B-ALL, myoepithelioma"""									51			23		0	0	0.00127121	0	0
RASA1	5921	broad.mit.edu	37	5	86658439	86658439	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:86658439G>C	uc003kiw.3	+	9	1603	c.1404G>C	c.(1402-1404)aaG>aaC	p.K468N	RASA1_uc010jav.3_Non-coding_Transcript|RASA1_uc003kix.3_Missense_Mutation_p.K291N|RASA1_uc011ctv.2_Missense_Mutation_p.K301N|RASA1_uc011ctw.2_Missense_Mutation_p.K302N|RASA1_uc010jaw.3_Missense_Mutation_p.K290N	NM_002890	NP_002881	P20936	RASA1_HUMAN	Homo sapiens RAS p21 protein activator (GTPase activating protein) 1 (RASA1), transcript variant 1, mRNA.	468					cytokinesis|embryo development|intracellular signal transduction|negative regulation of Ras protein signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|positive regulation of anti-apoptosis|regulation of RNA metabolic process|regulation of actin filament polymerization|regulation of cell shape|vasculogenesis	cytosol|intrinsic to internal side of plasma membrane	GTPase binding|Ras GTPase activator activity|glycoprotein binding|potassium channel inhibitor activity|receptor binding			NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48		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;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		GTAAAACAAAGGATGCCTTTT	0.299000														104			28		0	0	0.000720815	0	0
ZNF785	146540	broad.mit.edu	37	16	30596534	30596534	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr16:30596534C>T	uc002dyw.2	-	1	403	c.243G>A	c.(241-243)gtG>gtA	p.V81V	ZNF785_uc002dyv.2_Silent_p.V81V|ZNF785_uc010vez.2_Silent_p.V46V	NM_152458	NP_689671	A8K8V0	ZN785_HUMAN	Homo sapiens zinc finger protein 785 (ZNF785), mRNA.	81	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	9						CTTCTCCTTCCACCCACGAGA	0.592000														18			7		0	0	0.00198382	0	0
ZNF804A	91752	broad.mit.edu	37	2	185802381	185802381	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:185802381C>T	uc002uph.3	+	3	2852	c.2258C>T	c.(2257-2259)gCt>gTt	p.A753V		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	Homo sapiens zinc finger protein 804A (ZNF804A), mRNA.	753						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						CAGAATCAGGCTGTTAAAAGA	0.333000														56			21		0	0	0.00152264	0	0
GRIA1	2890	broad.mit.edu	37	5	153078581	153078581	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:153078581G>T	uc011dcy.2	+	9	1457	c.1430G>T	c.(1429-1431)cGa>cTa	p.R477L	GRIA1_uc003lva.4_Missense_Mutation_p.R467L|GRIA1_uc003luy.4_Missense_Mutation_p.R467L|GRIA1_uc003luz.4_Missense_Mutation_p.R372L|GRIA1_uc011dcv.2_Non-coding_Transcript|GRIA1_uc011dcw.2_Missense_Mutation_p.R387L|GRIA1_uc011dcx.2_Missense_Mutation_p.R398L|GRIA1_uc011dcz.2_Missense_Mutation_p.R477L|GRIA1_uc010jia.1_Missense_Mutation_p.R447L	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	Homo sapiens glutamate receptor, ionotropic, AMPA 1 (GRIA1), transcript variant 2, mRNA.	467					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	PDZ domain binding|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	p.R467Q(2)		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)	TACGGAGCCCGAGACCCTGAC	0.562000														20			6		0.00198382	0.00617672	0.00198382	1	0
TTC39C	125488	broad.mit.edu	37	18	21705489	21705490	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr18:21705489_21705490CC>TT	uc002kuw.3	+	9	1847_1848	c.1395_1396CC>TT	c.(1393-1398)ttcccc>ttTTcc	p.P466S	TTC39C_uc002kuu.3_Missense_Mutation_p.P405S	NM_001135993	NP_694943	Q8N584	TT39C_HUMAN	Homo sapiens tetratricopeptide repeat domain 39C (TTC39C), transcript variant 1, mRNA.	466							binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	19						ACTGTTCCTTCCCCAACCTGCA	0.455000														39			18		0	0	6.4e-05	0	0
DSCR6	53820	broad.mit.edu	37	21	38390383	38390383	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr21:38390383G>A	uc002yvv.3	+	3	659	c.449G>A	c.(448-450)gGa>gAa	p.G150E	DSCR6_uc011aec.2_Missense_Mutation_p.E37K|DSCR6_uc010gnd.3_Missense_Mutation_p.E37K	NM_018962	NP_061835	P57055	DSCR6_HUMAN	Homo sapiens Down syndrome critical region gene 6 (DSCR6), mRNA.	150						nucleus				NS(1)|breast(1)|kidney(2)|lung(3)|upper_aerodigestive_tract(1)	8		Myeloproliferative disorder(46;0.0632)				GGCCCAGGGGGAAAGGGCAGA	0.637000														21			11		0	0	0.000978159	0	0
GMEB1	10691	broad.mit.edu	37	1	29029018	29029018	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:29029018C>T	uc001bra.3	+	6	839	c.697C>T	c.(697-699)Ctc>Ttc	p.L233F	GMEB1_uc001bqz.3_Missense_Mutation_p.L223F|GMEB1_uc001brb.3_Missense_Mutation_p.L223F	NM_006582	NP_006573	Q9Y692	GMEB1_HUMAN	Homo sapiens glucocorticoid modulatory element binding protein 1 (GMEB1), transcript variant 1, mRNA.	233					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|metal ion binding|transcription coactivator activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)	11		Colorectal(325;3.46e-05)|Lung NSC(340;0.000451)|all_lung(284;0.00063)|Breast(348;0.00502)|Renal(390;0.00555)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)		GAACTCAGCTCTCACCGCTGC	0.502000														46			15		0	0	0.00400662	0	0
ZNF235	9310	broad.mit.edu	37	19	44791596	44791596	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:44791596G>A	uc002oza.4	-	4	2095	c.1992C>T	c.(1990-1992)ttC>ttT	p.F664F	ZNF235_uc002oyx.1_Intron|ZNF235_uc010eji.3_Intron|ZNF235_uc002ozb.4_Silent_p.F660F	NM_004234	NP_004225	Q14590	ZN235_HUMAN	Homo sapiens zinc finger protein 235 (ZNF235), mRNA.	664					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29		Prostate(69;0.0352)|all_neural(266;0.116)				CACTCCAACTGAATTCTTTCC	0.483000														42			25		0	0	0.00278032	0	0
SLC37A1	54020	broad.mit.edu	37	21	43984842	43984842	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr21:43984842C>T	uc002zbj.3	+	13	2142	c.1160C>T	c.(1159-1161)tCa>tTa	p.S387L	SLC37A1_uc002zbi.3_Missense_Mutation_p.S387L	NM_018964	NP_061837	P57057	GLPT_HUMAN	Homo sapiens solute carrier family 37 (glycerol-3-phosphate transporter), member 1 (SLC37A1), mRNA.	387					carbohydrate transport|transmembrane transport	integral to membrane				breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|liver(2)|lung(3)	15						GGTGTGATCTCAGACCGACTG	0.667000														37			9		0	0	0.000978159	0	0
TNR	7143	broad.mit.edu	37	1	175331828	175331828	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:175331828C>T	uc001gkp.1	-	11	2906	c.2825G>A	c.(2824-2826)aGc>aAc	p.S942N	TNR_uc009wwu.1_Missense_Mutation_p.S942N	NM_003285	NP_003276	Q92752	TENR_HUMAN	Homo sapiens tenascin R (restrictin, janusin) (TNR), mRNA.	942	Fibronectin type-III 7.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					GATGCGCTCGCTTTCCTCCCT	0.542000														44			12		0	0	0.00185496	0	0
FAM153C	653316	broad.mit.edu	37	5	177468702	177468702	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:177468702G>A	uc011dge.2	+	6	349	c.142G>A	c.(142-144)Gaa>Aaa	p.E48K						Homo sapiens family with sequence similarity 153, member C (FAM153C), non-coding RNA.											kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	4	all_cancers(89;0.00176)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	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)			AGGTGACCTGGAAGACCTGGA	0.527000														139			72		0	0	0.00361006	0	0
MRAP2	112609	broad.mit.edu	37	6	84799131	84799131	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:84799131G>A	uc003pkg.4	+	3	739	c.549G>A	c.(547-549)ctG>ctA	p.L183L	MRAP2_uc010kbo.3_Silent_p.L97L	NM_138409	NP_612418	Q96G30	MRAP2_HUMAN	Homo sapiens melanocortin 2 receptor accessory protein 2 (MRAP2), mRNA.	183					positive regulation of cAMP biosynthetic process|protein localization at cell surface	endoplasmic reticulum|plasma membrane	corticotropin hormone receptor binding|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding|type 5 melanocortin receptor binding			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(4)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	19						ATGATCTTCTGATTTCTGAAC	0.478000														46			25		0	0	0.00395357	0	0
PBX4	80714	broad.mit.edu	37	19	19675743	19675743	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:19675743G>A	uc002nmy.3	-	6	1212	c.925_splice	c.e6+1	p.G309_splice	PBX4_uc010xra.2_Splice_Site_p.G144_splice|PBX4_uc010xqz.2_Splice_Site	NM_025245	NP_079521	Q9BYU1	PBX4_HUMAN	Homo sapiens pre-B-cell leukemia homeobox 4 (PBX4), transcript variant 1, mRNA.	309							sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(4)|ovary(1)|prostate(3)	9						CTCACTCACCGGAGCTAGGTG	0.597000														95			38		0	0	0.00111076	0	0
ITGAL	3683	broad.mit.edu	37	16	30495274	30495274	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr16:30495274C>T	uc002dyi.4	+	7	1025	c.849C>T	c.(847-849)atC>atT	p.I283I	ITGAL_uc010veu.1_Non-coding_Transcript|ITGAL_uc002dyj.4_Silent_p.I200I|ITGAL_uc010vev.2_Intron	NM_002209	NP_002200	P20701	ITAL_HUMAN	Homo sapiens integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide) (ITGAL), transcript variant 1, mRNA.	283	VWFA.				T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	cell adhesion molecule binding|receptor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Efalizumab(DB00095)	TCCGCTACATCATCGGGGTAG	0.562000														87			44		0	0	0.00361006	0	0
RXFP1	59350	broad.mit.edu	37	4	159568290	159568290	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr4:159568290C>T	uc003ipz.3	+	15	1956	c.1693C>T	c.(1693-1695)Cct>Tct	p.P565S	RXFP1_uc010iqk.3_Missense_Mutation_p.P433S|RXFP1_uc011cja.2_Missense_Mutation_p.P460S|RXFP1_uc010iqo.3_Missense_Mutation_p.P517S|RXFP1_uc011cjb.2_Missense_Mutation_p.P463S|RXFP1_uc011cjc.2_Missense_Mutation_p.P484S|RXFP1_uc011cjd.2_Missense_Mutation_p.P484S|RXFP1_uc010iql.3_Missense_Mutation_p.P409S|RXFP1_uc011cje.2_Missense_Mutation_p.P592S|RXFP1_uc010iqm.3_Missense_Mutation_p.P532S|RXFP1_uc011cjf.2_Missense_Mutation_p.P434S|RXFP1_uc010iqn.3_Missense_Mutation_p.P510S	NM_021634	NP_067647	Q9HBX9	RXFP1_HUMAN	Homo sapiens relaxin/insulin-like family peptide receptor 1 (RXFP1), transcript variant 1, mRNA.	565						integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		AGTATGCTTCCCTCTTCATTC	0.333000														52			25		0	0	0.000720815	0	0
CPQ	10404	broad.mit.edu	37	8	97892214	97892214	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr8:97892214G>A	uc003yhw.3	+	3	996	c.830G>A	c.(829-831)gGg>gAg	p.G277E	CPQ_uc010mbe.2_Missense_Mutation_p.G277E	NM_016134	NP_057218	Q9Y646	PGCP_HUMAN	Homo sapiens plasma glutamate carboxypeptidase (PGCP), mRNA.	277					peptide metabolic process|proteolysis	cytoplasm|extracellular space	metal ion binding|metallocarboxypeptidase activity										GAGATCACTGGGAGCAAATAT	0.433000														103			41		0	0	0.00222228	0	0
C6	729	broad.mit.edu	37	5	41176764	41176764	+	Silent	SNP	C	T	T	rs146851023		TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:41176764C>T	uc003jmk.2	-	7	1191	c.981G>A	c.(979-981)acG>acA	p.T327T	C6_uc003jml.1_Silent_p.T327T|RN7SK_uc021xxu.1_5'Flank	NM_000065	NP_001108603	P13671	CO6_HUMAN	Homo sapiens complement component 6 (C6), transcript variant 1, mRNA.	327	MACPF.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	p.T327T(2)		central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				CTTTAGCTTTCGTTGTGAAGT	0.338000														29			17		0	0	0.000958276	0	0
HYDIN	54768	broad.mit.edu	37	16	70926327	70926327	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr16:70926327G>A	uc002ezr.3	-	55	9502	c.9351C>T	c.(9349-9351)gtC>gtT	p.V3117V		NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	3118										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				AGAAAACTTGGACATTTGTGG	0.473000														71			21		0	0	0.00188189	0	0
LPHN2	23266	broad.mit.edu	37	1	82435023	82435023	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:82435023C>T	uc001dit.4	+	13	2815	c.2634C>T	c.(2632-2634)ttC>ttT	p.F878F	LPHN2_uc001dis.3_Intron|LPHN2_uc001diu.3_Silent_p.F878F|LPHN2_uc001div.3_Silent_p.F878F|LPHN2_uc009wcd.3_Silent_p.F878F|LPHN2_uc001diw.3_Silent_p.F462F|LPHN2_uc009wce.1_5'Flank	NM_012302	NP_036434	O95490	LPHN2_HUMAN	Homo sapiens latrophilin 2 (LPHN2), mRNA.	891					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		TCAACCTTTTCATTGCTGAAT	0.378000														94			36		0	0	0.00375469	0	0
LAMC2	3918	broad.mit.edu	37	1	183155554	183155554	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:183155554T>A	uc001gqa.2	+	0	381	c.67T>A	c.(67-69)Tcc>Acc	p.S23T	LAMC2_uc001gpz.4_Missense_Mutation_p.S23T|LAMC2_uc010poa.2_5'UTR	NM_005562	NP_005553	Q13753	LAMC2_HUMAN	Homo sapiens laminin, gamma 2 (LAMC2), transcript variant 1, mRNA.	23					cell adhesion|epidermis development|hemidesmosome assembly		heparin binding			breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						CCGGGCCACCTCCAGGAGGGA	0.652000														15			9		0	0	0.000442599	0	0
GRIN3A	116443	broad.mit.edu	37	9	104449092	104449092	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr9:104449092C>T	uc004bbp.2	-	1	1691	c.1090G>A	c.(1090-1092)Gaa>Aaa	p.E364K	GRIN3A_uc004bbq.1_Missense_Mutation_p.E364K	NM_133445	NP_597702	Q8TCU5	NMD3A_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl-D-aspartate 3A (GRIN3A), mRNA.	364					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	GTCCTCAGTTCCTCCACATTC	0.512000														23			17		0	0	0.00400662	0	0
SNCAIP	9627	broad.mit.edu	37	5	121786421	121786421	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:121786421G>A	uc003ksw.1	+	9	2085	c.1879G>A	c.(1879-1881)Gaa>Aaa	p.E627K	SNCAIP_uc011cwl.1_Missense_Mutation_p.E185K|SNCAIP_uc003ksy.1_Missense_Mutation_p.E261K|SNCAIP_uc003ksx.1_Missense_Mutation_p.E674K|SNCAIP_uc003ksz.1_Missense_Mutation_p.E261K|SNCAIP_uc010jcu.2_Missense_Mutation_p.E223K|SNCAIP_uc011cwm.1_Missense_Mutation_p.E261K|SNCAIP_uc003kta.1_Missense_Mutation_p.E259K|SNCAIP_uc010jcv.1_Non-coding_Transcript|SNCAIP_uc010jcw.1_Missense_Mutation_p.E321K|SNCAIP_uc010jcx.1_Missense_Mutation_p.E567K|BC029465_uc003ktb.1_Intron|SNCAIP_uc003ktc.1_Missense_Mutation_p.E143K	NM_005460	NP_005451	Q9Y6H5	SNCAP_HUMAN	Homo sapiens synuclein, alpha interacting protein (SNCAIP), transcript variant 1, mRNA.	627					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		ATTGGGAAAGGAAATCTCAGA	0.458000														30			25		0	0	0.000720815	0	0
ELOVL1	64834	broad.mit.edu	37	1	43830919	43830919	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:43830919G>A	uc001cjb.3	-	2	303	c.175C>T	c.(175-177)Cgt>Tgt	p.R59C	ELOVL1_uc001cjc.3_Non-coding_Transcript|ELOVL1_uc010okh.2_Missense_Mutation_p.R59C	NM_022821	NP_073732	Q9BW60	ELOV1_HUMAN	Homo sapiens ELOVL fatty acid elongase 1 (ELOVL1), transcript variant 1, mRNA.	59					fatty acid elongation, monounsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|sphingolipid biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	integral to endoplasmic reticulum membrane	fatty acid elongase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|prostate(1)	4	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				ATGAAGCCACGGAGCTGGAAG	0.542000														32			28		0	0	0.001512	0	0
COPS5	10987	broad.mit.edu	37	8	67968840	67968840	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr8:67968840C>T	uc003xxf.3	-	7	882	c.709_splice	c.e7-1	p.G237_splice	COPS5_uc003xxd.3_Splice_Site_p.G128_splice|COPS5_uc003xxe.3_Splice_Site_p.G192_splice|COPS5_uc010lyu.1_Splice_Site|COPS5_uc010lyv.1_Splice_Site_p.G192_splice			Q92905	CSN5_HUMAN	Homo sapiens COP9 constitutive photomorphogenic homolog subunit 5 (Arabidopsis) (COPS5), mRNA.	192					cullin deneddylation|transcription from RNA polymerase II promoter	eukaryotic translation initiation factor 3 complex|signalosome	metal ion binding|metallopeptidase activity|protein binding|transcription coactivator activity|translation initiation factor activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|skin(3)	14	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00389)|OV - Ovarian serous cystadenocarcinoma(28;0.00691)|all cancers(69;0.0205)|BRCA - Breast invasive adenocarcinoma(89;0.153)			GTTTGTAGCCCTAAACAAAAA	0.224000														37			15		0	0	0.00400662	0	0
DHX9	1660	broad.mit.edu	37	1	182856422	182856422	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:182856422C>T	uc001gpr.3	+	27	3841	c.3666C>T	c.(3664-3666)tcC>tcT	p.S1222S	DHX9_uc001gps.3_Silent_p.S1008S|DHX9_uc001gpt.3_Silent_p.S501S|DHX9_uc009wyd.3_Silent_p.S187S	NM_001357	NP_001348	Q08211	DHX9_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 9 (DHX9), transcript variant 1, mRNA.	1222	NTD.				CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	CRD-mediated mRNA stability complex|centrosome|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						GAGGAGTTTCCCGAGGTGGCT	0.587000														40			21		0	0	0.00278032	0	0
ELAC1	55520	broad.mit.edu	37	18	48500853	48500853	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr18:48500853C>T	uc002lez.3	+	1	185	c.79C>T	c.(79-81)Cgg>Tgg	p.R27W	ELAC1_uc010dpe.3_Missense_Mutation_p.R27W|SMAD4_uc010xdo.1_Non-coding_Transcript	NM_018696	NP_061166	Q9H777	RNZ1_HUMAN	Homo sapiens elaC homolog 1 (E. coli) (ELAC1), mRNA.	27					tRNA 3'-trailer cleavage	nucleus	endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding			kidney(1)|large_intestine(4)|prostate(1)	6		Colorectal(6;0.0269)|all_epithelial(6;0.0729)		Colorectal(21;0.000943)|COAD - Colon adenocarcinoma(17;0.0398)|READ - Rectum adenocarcinoma(32;0.0894)|STAD - Stomach adenocarcinoma(97;0.18)		TGTGGTCCTTCGGTGTGAAGG	0.532000														36			11		0	0	0.000978159	0	0
TUSC5	286753	broad.mit.edu	37	17	1183440	1183440	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr17:1183440G>A	uc002fsi.1	+	0	484	c.145G>A	c.(145-147)Ggg>Agg	p.G49R		NM_172367	NP_758955	Q8IXB3	TUSC5_HUMAN	Homo sapiens tumor suppressor candidate 5 (TUSC5), mRNA.	49					response to biotic stimulus	integral to membrane		p.S48S(1)		endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|prostate(4)|skin(2)	15				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		GACCCTCTCGGGGCCTCTGGA	0.637000														21			20		0	0	0.00229938	0	0
IL29	282618	broad.mit.edu	37	19	39787498	39787498	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:39787498G>A	uc002okv.3	+	1	322	c.225G>A	c.(223-225)ggG>ggA	p.G75G		NM_172140	NP_742152	Q8IU54	IL29_HUMAN	Homo sapiens interleukin 29 (interferon, lambda 1) (IL29), mRNA.	75					defense response to virus|negative regulation of cell proliferation|negative regulation of interleukin-13 production|negative regulation of interleukin-5 production|negative regulation of memory T cell differentiation|negative regulation of transcription, DNA-dependent|negative regulation of type 2 immune response|positive regulation of MHC class I biosynthetic process|positive regulation of immune response|positive regulation of interferon-gamma production|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of STAT protein	extracellular space|interleukin-28 receptor complex	cytokine activity|interleukin-28 receptor binding			endometrium(2)|lung(2)	4	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			TCTTCCCCGGGAATTGGGACC	0.577000														58			28		0	0	0.00209593	0	0
KRT33A	3883	broad.mit.edu	37	17	39502871	39502871	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr17:39502871G>A	uc002hwk.1	-	5	963	c.926C>T	c.(925-927)tCc>tTc	p.S309F		NM_004138	NP_004129	O76009	KT33A_HUMAN	Homo sapiens keratin 33A (KRT33A), mRNA.	309	Coil 2.|Rod.					intermediate filament	protein binding|structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	21		Breast(137;0.000496)				GGACAGCTGGGAGCTGTAGCG	0.587000														48			14		0	0	0.00185496	0	0
CEP44	80817	broad.mit.edu	37	4	175223258	175223258	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr4:175223258A>T	uc010iro.2	+	3	463	c.158A>T	c.(157-159)tAt>tTt	p.Y53F	CEP44_uc003its.2_Non-coding_Transcript|CEP44_uc003itr.3_Missense_Mutation_p.Y53F	NM_001145314	NP_001138786	Q9C0F1	CEP44_HUMAN	Homo sapiens centrosomal protein 44kDa (CEP44), transcript variant 2, mRNA.	53						centrosome|midbody|spindle pole				endometrium(2)|large_intestine(4)|lung(5)|stomach(1)	12						TACTCACCTTATGTAACAGAA	0.328000														59			28		0	0	0.00283554	0	0
THUMPD2	80745	broad.mit.edu	37	2	39993247	39993247	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:39993247G>A	uc002rru.2	-	4	790	c.753C>T	c.(751-753)atC>atT	p.I251I	THUMPD2_uc002rrv.2_Non-coding_Transcript|THUMPD2_uc010ynt.1_Silent_p.I142I|THUMPD2_uc010ynu.1_Missense_Mutation_p.L316F	NM_025264	NP_079540	Q9BTF0	THUM2_HUMAN	Homo sapiens THUMP domain containing 2 (THUMPD2), transcript variant 1, mRNA.	251	THUMP.						methyltransferase activity	p.G251V(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|skin(1)	17		all_hematologic(82;0.248)				GATGTATAAAGATCTGAAAGA	0.328000														60			23		0	0	0.00395357	0	0
C6orf58	352999	broad.mit.edu	37	6	127898383	127898383	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:127898383C>T	uc003qbh.3	+	0	65	c.53C>T	c.(52-54)tCc>tTc	p.S18F		NM_001010905	NP_001010905	Q6P5S2	CF058_HUMAN	Homo sapiens chromosome 6 open reading frame 58 (C6orf58), mRNA.	18						extracellular region		p.S18F(2)		kidney(3)|large_intestine(3)|liver(1)|lung(7)|pancreas(1)	15				GBM - Glioblastoma multiforme(226;0.0405)|all cancers(137;0.156)		TTTTCTGCTTCCTTAGCAGGG	0.502000														67			18		0	0	0.00121646	0	0
UGT2B7	7364	broad.mit.edu	37	4	69962505	69962505	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr4:69962505C>T	uc003heg.4	+	0	313	c.267C>T	c.(265-267)ttC>ttT	p.F89F	UGT2B7_uc010ihq.3_Silent_p.F89F	NM_001074	NP_001065	P16662	UD2B7_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B7 (UGT2B7), mRNA.	89					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TGGAGAATTTCATCATGCAAC	0.338000														51			22		0	0	0.00152264	0	0
BLM	641	broad.mit.edu	37	15	91292731	91292732	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr15:91292731_91292732CC>AA	uc002bpr.3	+	2	330_331	c.233_234CC>AA	c.(232-234)ccc>cAA	p.P78Q	BLM_uc010uqh.2_Missense_Mutation_p.P78Q|BLM_uc010uqi.2_5'UTR|BLM_uc010bnx.3_Missense_Mutation_p.P78Q	NM_000057	NP_000048	P54132	BLM_HUMAN	Homo sapiens Bloom syndrome, RecQ helicase-like (BLM), mRNA.	78					G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|double-strand break repair via homologous recombination|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray	PML body|cytoplasm|lateral element|nuclear matrix|nucleolus	ATP binding|DNA strand annealing activity|G-quadruplex DNA binding|bubble DNA binding|four-way junction helicase activity|p53 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			GAACCTCTACCCAACACCACAA	0.376000			"""Mis, N, F"""			"""leukemia, lymphoma, skin squamous cell , other cancers"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome					647			17		0	0	6.4e-05	0	0
SECISBP2L	9728	broad.mit.edu	37	15	49292060	49292060	+	Silent	SNP	T	G	G			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr15:49292060T>G	uc001zxe.2	-	15	2637	c.2373A>C	c.(2371-2373)gtA>gtC	p.V791V	SECISBP2L_uc001zxd.2_Silent_p.V746V|SECISBP2L_uc010bep.2_Silent_p.V553V	NM_001193489	NP_001180418	Q93073	SBP2L_HUMAN	Homo sapiens SECIS binding protein 2-like (SECISBP2L), transcript variant 1, mRNA.	791										breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						AGATTCCCACTACGCTAACAG	0.453000														24			10		0	0	0.000442599	0	0
SEMA5B	54437	broad.mit.edu	37	3	122631110	122631110	+	Silent	SNP	A	G	G			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:122631110A>G	uc003efz.1	-	18	3109	c.2805T>C	c.(2803-2805)cgT>cgC	p.R935R	SEMA5B_uc011bju.1_Intron|SEMA5B_uc003ega.1_Non-coding_Transcript|SEMA5B_uc003egb.1_Silent_p.R935R|SEMA5B_uc003efy.1_5'UTR	NM_001031702	NP_001026872	Q9P283	SEM5B_HUMAN	Homo sapiens sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B (SEMA5B), transcript variant 1, mRNA.	935	TSP type-1 4.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		TGGTGCAGGAACGGGTGCGTT	0.637000														8			4		0	0	0.000602214	0	0
ADAM18	8749	broad.mit.edu	37	8	39486947	39486947	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr8:39486947G>A	uc003xni.3	+	6	632	c.577G>A	c.(577-579)Gaa>Aaa	p.E193K	ADAM18_uc010lww.3_Non-coding_Transcript|ADAM18_uc010lwx.3_Missense_Mutation_p.E193K	NM_014237	NP_055052	Q9Y3Q7	ADA18_HUMAN	Homo sapiens ADAM metallopeptidase domain 18 (ADAM18), transcript variant 1, mRNA.	193	Peptidase M12B.				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)			CATTATAGTGGAAAAAGCTTT	0.318000														59			25		0	0	0.000878237	0	0
SH3TC2	79628	broad.mit.edu	37	5	148407894	148407894	+	Silent	SNP	G	A	A	rs150950962	byFrequency	TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:148407894G>A	uc003lpu.3	-	10	1553	c.1401C>T	c.(1399-1401)ttC>ttT	p.F467F	SH3TC2_uc003lpp.1_Non-coding_Transcript|SH3TC2_uc010jgw.3_Silent_p.F111F|SH3TC2_uc003lps.3_Non-coding_Transcript|SH3TC2_uc003lpt.3_Silent_p.F14F|SH3TC2_uc010jgx.3_Silent_p.F460F|SH3TC2_uc003lpv.1_Silent_p.F14F|SH3TC2_uc011dbz.1_Silent_p.F352F	NM_024577	NP_078853	Q8TF17	S3TC2_HUMAN	Homo sapiens SH3 domain and tetratricopeptide repeats 2 (SH3TC2), mRNA.	467							binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATATGGGGGCGAAGTTCTCAG	0.507000														69			38		0	0	0.000953801	0	0
KRT73	319101	broad.mit.edu	37	12	53010096	53010096	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:53010096C>T	uc001sas.3	-	1	551	c.516G>A	c.(514-516)ctG>ctA	p.L172L		NM_175068	NP_778238	Q86Y46	K2C73_HUMAN	Homo sapiens keratin 73 (KRT73), mRNA.	172	Linker 1.|Rod.					keratin filament	structural molecule activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		TGCAGTTGTTCAGGTCCAGCT	0.572000														76			26		0	0	0.00209593	0	0
BRD8	10902	broad.mit.edu	37	5	137500762	137500762	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:137500762G>A	uc003lcf.1	-	11	1427	c.1372C>T	c.(1372-1374)Ccc>Tcc	p.P458S	BRD8_uc011cyl.2_Missense_Mutation_p.P237S|BRD8_uc021yea.1_Missense_Mutation_p.P348S|BRD8_uc003lcg.3_Missense_Mutation_p.P531S|BRD8_uc003lci.3_Missense_Mutation_p.P461S|BRD8_uc011cym.2_Missense_Mutation_p.P442S|BRD8_uc011cyn.1_Missense_Mutation_p.P417S	NM_139199	NP_631938	Q9H0E9	BRD8_HUMAN	Homo sapiens bromodomain containing 8 (BRD8), transcript variant 2, mRNA.	458					cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter	NuA4 histone acetyltransferase complex|mitochondrion	sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TGCTCCCAGGGGCCAGGCAGG	0.537000														46			24		0	0	0.00229938	0	0
ASGR2	433	broad.mit.edu	37	17	7012104	7012104	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr17:7012104C>T	uc002gep.3	-	2	495	c.228G>A	c.(226-228)gtG>gtA	p.V76V	ASGR2_uc002gen.1_Silent_p.V57V|ASGR2_uc002geo.2_Silent_p.V76V|ASGR2_uc002geq.3_Silent_p.V57V|ASGR2_uc002ger.3_Silent_p.V76V|ASGR2_uc010clw.2_Silent_p.V57V|ASGR2_uc010vtl.1_Non-coding_Transcript	NM_001181	NP_550434	P07307	ASGR2_HUMAN	Homo sapiens asialoglycoprotein receptor 2 (ASGR2), transcript variant 1, mRNA.	76					cell surface receptor linked signaling pathway|endocytosis	focal adhesion|integral to membrane|nucleolus	asialoglycoprotein receptor activity|protein binding|sugar binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|skin(3)|stomach(4)	18					Antihemophilic Factor(DB00025)	GGGACCCAGTCACACAGATGA	0.637000														9			9		0	0	0.000442599	0	0
FAM135B	51059	broad.mit.edu	37	8	139164781	139164781	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr8:139164781G>A	uc003yuy.3	-	12	2108	c.1937C>T	c.(1936-1938)tCt>tTt	p.S646F	FAM135B_uc003yux.3_Missense_Mutation_p.S547F|FAM135B_uc003yuz.3_Non-coding_Transcript|FAM135B_uc003yva.3_Missense_Mutation_p.S208F|FAM135B_uc003yvb.3_Missense_Mutation_p.S208F	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA.	646										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)			CCTCAGGGTAGAACTTAGTGG	0.483000										HNSCC(54;0.14)				38			12		0	0	0.00185496	0	0
OPRK1	4986	broad.mit.edu	37	8	54142226	54142226	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr8:54142226G>A	uc003xrh.1	-	2	1149	c.774C>T	c.(772-774)ctC>ctT	p.L258L	OPRK1_uc022aup.1_Silent_p.L138L|OPRK1_uc003xri.1_Silent_p.L258L|OPRK1_uc010lyc.1_Silent_p.L169L	NM_000912	NP_000903	P41145	OPRK_HUMAN	Homo sapiens opioid receptor, kappa 1 (OPRK1), mRNA.	258					behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication	integral to plasma membrane	kappa-opioid receptor activity|protein binding			NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	43		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193)	AGCCAGAAAGGAGCCGGACGC	0.547000														39			13		0	0	0.00244969	0	0
TCERG1	10915	broad.mit.edu	37	5	145886679	145886679	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:145886679A>G	uc003lob.3	+	18	2859	c.2819A>G	c.(2818-2820)gAg>gGg	p.E940G	TCERG1_uc003loc.3_Missense_Mutation_p.E919G	NM_006706	NP_006697	O14776	TCRG1_HUMAN	Homo sapiens transcription elongation regulator 1 (TCERG1), transcript variant 1, mRNA.	940	FF 4.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTGGAAAGAGAGGAGAAAGAG	0.413000														87			32		0	0	0.00283554	0	0
FAM135A	57579	broad.mit.edu	37	6	71234783	71234783	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:71234783C>T	uc003pfj.3	+	12	2129	c.1996C>T	c.(1996-1998)Cct>Tct	p.P666S	FAM135A_uc003pfi.3_Missense_Mutation_p.P470S|FAM135A_uc003pfh.3_Missense_Mutation_p.P453S|FAM135A_uc003pfl.3_Missense_Mutation_p.P333S|FAM135A_uc003pfn.3_Missense_Mutation_p.P96S|FAM135A_uc003pfo.1_Missense_Mutation_p.P37S	NM_001162529	NP_001156001	Q9P2D6	F135A_HUMAN	Homo sapiens family with sequence similarity 135, member A (FAM135A), transcript variant 3, mRNA.	666										breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						TAATAAAGATCCTTTCAGTGG	0.403000														42			20		0	0	0.000958276	0	0
USP29	57663	broad.mit.edu	37	19	57640915	57640915	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:57640915G>A	uc002qny.3	+	3	1228	c.872G>A	c.(871-873)gGa>gAa	p.G291E	USP29_uc021vci.1_Missense_Mutation_p.G291E	NM_020903	NP_065954	Q9HBJ7	UBP29_HUMAN	Homo sapiens ubiquitin specific peptidase 29 (USP29), mRNA.	291					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	p.G291R(1)		breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CCCAATTTGGGAAACACCTGT	0.473000														29			15		0	0	0.00316338	0	0
EPHA6	285220	broad.mit.edu	37	3	96533487	96533487	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:96533487C>T	uc010how.1	+	0	63	c.20C>T	c.(19-21)cCa>cTa	p.P7L	EPHA6_uc003drp.1_Missense_Mutation_p.P7L	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	Homo sapiens EPH receptor A6 (EPHA6), transcript variant 1, mRNA.	0						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						CCCTCGCCTCCAGCCGCGAGG	0.697000														23			8		0	0	0.000673444	0	0
TCEB3B	51224	broad.mit.edu	37	18	44560508	44560508	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr18:44560508G>A	uc002lcr.1	-	0	1481	c.1128C>T	c.(1126-1128)ttC>ttT	p.F376F	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.3_Intron	NM_016427	NP_057511	Q8IYF1	ELOA2_HUMAN	Homo sapiens transcription elongation factor B polypeptide 3B (elongin A2) (TCEB3B), mRNA.	376					regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						TGGGCTGCTCGAATTCCTCAG	0.507000														47			21		0	0	0.00229938	0	0
C4BPA	722	broad.mit.edu	37	1	207307841	207307841	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:207307841G>A	uc001hfo.3	+	8	1371	c.1177G>A	c.(1177-1179)Gat>Aat	p.D393N		NM_000715	NP_000706	P04003	C4BPA_HUMAN	Homo sapiens complement component 4 binding protein, alpha (C4BPA), mRNA.	393	Sushi 6.				complement activation, classical pathway|innate immune response	extracellular region	protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2)	28						TTTCTATGGAGATGAGATTTC	0.423000														68			30		0	0	0.00178596	0	0
PTPDC1	138639	broad.mit.edu	37	9	96859746	96859746	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr9:96859746C>T	uc010mrj.2	+	5	1000	c.898C>T	c.(898-900)Cct>Tct	p.P300S	PTPDC1_uc004auf.2_Missense_Mutation_p.P246S|PTPDC1_uc004aug.2_Missense_Mutation_p.P246S|PTPDC1_uc004auh.2_Missense_Mutation_p.P298S|PTPDC1_uc010mri.2_Missense_Mutation_p.P298S	NM_001253829	NP_001240758	A2A3K4	PTPC1_HUMAN	Homo sapiens protein tyrosine phosphatase domain containing 1 (PTPDC1), transcript variant 3, mRNA.	246							protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	32						GTTTCTAACTCCTCTCCGCAA	0.453000														57			47		0	0	0.00361006	0	0
BTN1A1	696	broad.mit.edu	37	6	26508953	26508953	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:26508953A>T	uc003nif.4	+	6	1189	c.1132A>T	c.(1132-1134)Aat>Tat	p.N378Y		NM_001732	NP_001723	Q13410	BT1A1_HUMAN	Homo sapiens butyrophilin, subfamily 1, member A1 (BTN1A1), mRNA.	378	B30.2/SPRY.					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						GTGTAGGGAGAATGTGATGAA	0.557000														124			30		0	0	0.00209593	0	0
KPRP	448834	broad.mit.edu	37	1	152733215	152733215	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	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														30			13		0	0	0.00244969	0	0
ASIC1	41	broad.mit.edu	37	12	50453691	50453691	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:50453691C>T	uc001rvv.3	+	2	741	c.512C>T	c.(511-513)tCc>tTc	p.S171F	ASIC1_uc001rvw.3_Missense_Mutation_p.S171F|ASIC1_uc009zln.3_5'UTR|ASIC1_uc009zlo.3_Missense_Mutation_p.S171F	NM_020039	NP_064423	P78348	ACCN2_HUMAN	Homo sapiens amiloride-sensitive cation channel 2, neuronal (ACCN2), transcript variant 1, mRNA.	171					calcium ion transport|response to pH|signal transduction	integral to plasma membrane	ligand-gated sodium channel activity|protein binding									Amiloride(DB00594)	ATGCTGCTCTCCTGCCACTTC	0.597000														26			15		0	0	0.00074312	0	0
ANKRD27	84079	broad.mit.edu	37	19	33095330	33095330	+	Splice_Site	SNP	G	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:33095330G>T	uc002ntn.1	-	25	2650	c.2494_splice	c.e25-1	p.H832_splice		NM_032139	NP_115515	Q96NW4	ANR27_HUMAN	Homo sapiens ankyrin repeat domain 27 (VPS9 domain) (ANKRD27), mRNA.	832					early endosome to late endosome transport	early endosome|lysosome	GTPase activator activity|guanyl-nucleotide exchange factor activity			breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42	Esophageal squamous(110;0.137)					GAGGCCCCGTGCTGGAAAGAG	0.478000														9			4		5.9392e-07	1.86574e-06	0.00116845	1	0
GPC5	2262	broad.mit.edu	37	13	92560304	92560304	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr13:92560304T>C	uc010tif.2	+	5	1760	c.1394T>C	c.(1393-1395)gTt>gCt	p.V465A		NM_004466	NP_004457	P78333	GPC5_HUMAN	Homo sapiens glypican 5 (GPC5), mRNA.	465						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)				CTGAAGCATGTTGTTCAGGTA	0.328000														43			13		0	0	0.00400662	0	0
OR5M11	219487	broad.mit.edu	37	11	56310057	56310057	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:56310057C>T	uc010rjl.2	-	0	677	c.677G>A	c.(676-678)cGg>cAg	p.R226Q	OR8U8_uc001nit.2_Intron	NM_001005245	NP_001005245	Q96RB7	OR5MB_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 11 (OR5M11), mRNA.	226					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)	18						TGATTTGATCCGGAGGATGGC	0.493000														21			25		0	0	0.00395357	0	0
CBLL1	79872	broad.mit.edu	37	7	107399438	107399438	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:107399438C>T	uc003veq.3	+	5	1621	c.1291C>T	c.(1291-1293)Cag>Tag	p.Q431*	CBLL1_uc011kme.2_Nonsense_Mutation_p.Q310*|CBLL1_uc011kmf.2_Nonsense_Mutation_p.Q430*	NM_024814	NP_079090	Q75N03	HAKAI_HUMAN	Homo sapiens Cas-Br-M (murine) ecotropic retroviral transforming sequence-like 1 (CBLL1), transcript variant 1, mRNA.	431	Pro-rich.				cell-cell adhesion|negative regulation of cell adhesion|positive regulation of cell migration|positive regulation of endocytosis		protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(3)	21						CTCATTACCCCAGTTCACTGA	0.522000														63			18		0	0	0.00121646	0	0
COL8A1	1295	broad.mit.edu	37	3	99513448	99513448	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:99513448G>A	uc003dti.1	+	2	834	c.706G>A	c.(706-708)Ggc>Agc	p.G236S	MIR548G_uc021xbq.1_Intron|COL8A1_uc003dtg.1_Missense_Mutation_p.G235S|COL8A1_uc003dth.1_Missense_Mutation_p.G235S	NM_020351	NP_065084	P27658	CO8A1_HUMAN	Homo sapiens collagen, type VIII, alpha 1 (COL8A1), transcript variant 2, mRNA.	235	Triple-helical region (COL1).				angiogenesis|cell adhesion	basement membrane|collagen type VIII				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1)	27						AGGACCTCAAGGCCTTCGGGG	0.622000														71			27		0	0	0.00209593	0	0
C1QTNF9	338872	broad.mit.edu	37	13	24890298	24890298	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr13:24890298G>A	uc001upj.3	+	1	218	c.157G>A	c.(157-159)Ggc>Agc	p.G53S	SPATA13_uc001upe.3_Non-coding_Transcript	NM_178540	NP_848635	P0C862	C1T9A_HUMAN	Homo sapiens C1q and tumor necrosis factor related protein 9 (C1QTNF9), mRNA.	53	Collagen-like 1.					collagen	hormone activity			endometrium(1)|kidney(2)|lung(6)	9		all_cancers(29;3.55e-20)|all_epithelial(30;4.25e-17)|all_lung(29;1.04e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.00565)|Epithelial(112;0.027)|OV - Ovarian serous cystadenocarcinoma(117;0.115)|Lung(94;0.159)		GGGTGACAAAGGCGATGCAGG	0.542000														29			12		0	0	0.00074312	0	0
PDLIM5	10611	broad.mit.edu	37	4	95494539	95494539	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr4:95494539C>T	uc003hti.3	+	3	437	c.286C>T	c.(286-288)Caa>Taa	p.Q96*	PDLIM5_uc003htf.3_Nonsense_Mutation_p.Q96*|PDLIM5_uc003htg.3_Nonsense_Mutation_p.Q96*|PDLIM5_uc011cdx.1_Nonsense_Mutation_p.Q96*|PDLIM5_uc003htj.3_5'UTR|PDLIM5_uc003htk.3_Nonsense_Mutation_p.Q96*|PDLIM5_uc011cdy.2_5'UTR|PDLIM5_uc003hth.3_Nonsense_Mutation_p.Q96*	NM_006457	NP_006448	Q96HC4	PDLI5_HUMAN	Homo sapiens PDZ and LIM domain 5 (PDLIM5), transcript variant 1, mRNA.	96					regulation of dendritic spine morphogenesis|regulation of synaptogenesis	actin cytoskeleton|cell junction|cytosol|postsynaptic density|postsynaptic membrane|synaptosome	actin binding|actinin binding|protein kinase C binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.84e-09)		GGTTCCTGTTCAAAAGGTGTG	0.383000														74			33		0	0	0.00375469	0	0
CDK5RAP2	55755	broad.mit.edu	37	9	123201852	123201852	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr9:123201852C>G	uc004bkf.3	-	23	3728	c.3547G>C	c.(3547-3549)Gtg>Ctg	p.V1183L	CDK5RAP2_uc010mvi.3_Missense_Mutation_p.V192L|CDK5RAP2_uc004bke.3_Missense_Mutation_p.V468L|CDK5RAP2_uc004bkg.3_Missense_Mutation_p.V1183L|CDK5RAP2_uc011lxw.2_Missense_Mutation_p.V448L|CDK5RAP2_uc011lxx.2_Non-coding_Transcript|CDK5RAP2_uc011lxy.2_Non-coding_Transcript|CDK5RAP2_uc011lxz.2_Missense_Mutation_p.V448L|CDK5RAP2_uc011lya.2_Missense_Mutation_p.V448L|CDK5RAP2_uc004bkh.1_Missense_Mutation_p.V953L|CDK5RAP2_uc004bki.3_Missense_Mutation_p.V950L	NM_018249	NP_060719	Q96SN8	CK5P2_HUMAN	Homo sapiens CDK5 regulatory subunit associated protein 2 (CDK5RAP2), transcript variant 1, mRNA.	1183	Interaction with MAPRE1.				G2/M transition of mitotic cell cycle|brain development|centrosome organization|chromosome segregation|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	Golgi apparatus|cytosol|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						AGGATTTTCACGTGTTTCACG	0.522000											OREG0019438	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		60			5		0	0	0.000602214	0	0
PDK3	5165	broad.mit.edu	37	X	24523415	24523415	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chrX:24523415G>A	uc004dbg.3	+	5	824	c.595_splice	c.e5+1	p.D199_splice	PDK3_uc004dbh.3_Splice_Site_p.D199_splice	NM_005391	NP_005382	Q15120	PDK3_HUMAN	Homo sapiens pyruvate dehydrogenase kinase, isozyme 3 (PDK3), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	199	Histidine kinase.				glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	ATP binding|protein binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity			NS(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						TGTGGTGAAAGGTAAGGAGAC	0.458000														13			22		0	0	0.00395357	0	0
CD96	10225	broad.mit.edu	37	3	111297913	111297913	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:111297913C>T	uc003dxw.3	+	4	801	c.631C>T	c.(631-633)Cac>Tac	p.H211Y	CD96_uc003dxv.3_Missense_Mutation_p.H195Y|CD96_uc003dxx.3_Missense_Mutation_p.H195Y|CD96_uc010hpy.1_Missense_Mutation_p.H195Y	NM_198196	NP_937839	P40200	TACT_HUMAN	Homo sapiens CD96 molecule (CD96), transcript variant 1, mRNA.	211	Ig-like V-type 2.				cell adhesion|immune response|regulation of immune response	integral to plasma membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5)	35						CTCCCAAAATCACCTCATCAG	0.438000									Opitz Trigonocephaly syndrome					35			24		0	0	0.000878237	0	0
LPIN1	23175	broad.mit.edu	37	2	11922483	11922484	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:11922483_11922484CC>TT	uc010yjm.2	+	8	1314_1315	c.1261_1262CC>TT	c.(1261-1263)cct>TTt	p.P421F	LPIN1_uc010yjn.2_Missense_Mutation_p.P336F|LPIN1_uc002rbt.3_Missense_Mutation_p.P336F|LPIN1_uc002rbs.3_Missense_Mutation_p.P372F	NM_145693	NP_663731	Q14693	LPIN1_HUMAN	Homo sapiens lipin 1 (LPIN1), mRNA.	336					fatty acid catabolic process|transcription, DNA-dependent|triglyceride biosynthetic process|triglyceride mobilization	cytosol|endoplasmic reticulum membrane	phosphatidate phosphatase activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	45	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)		CCAGAACAAGCCTCAGACAGAA	0.510000														36			14		0	0	6.4e-05	0	0
SYT14	255928	broad.mit.edu	37	1	210194504	210194504	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:210194504C>T	uc001hhs.4	+	4	540	c.482C>T	c.(481-483)tCt>tTt	p.S161F	SYT14_uc001hht.4_Missense_Mutation_p.S116F|SYT14_uc010psn.2_Missense_Mutation_p.S161F|SYT14_uc001hhu.4_Non-coding_Transcript|SYT14_uc010pso.2_Missense_Mutation_p.S78F|SYT14_uc009xcv.3_Missense_Mutation_p.S116F	NM_001146261	NP_001139733	Q8NB59	SYT14_HUMAN	Homo sapiens synaptotagmin XIV (SYT14), transcript variant 1, mRNA.	116						integral to membrane				endometrium(4)|large_intestine(11)|lung(17)|ovary(1)|prostate(1)|skin(3)	37				OV - Ovarian serous cystadenocarcinoma(81;0.085)		CTGGCAGATTCTAGACAAAGG	0.433000														42			12		0	0	0.00136819	0	0
PDZD2	23037	broad.mit.edu	37	5	32089405	32089406	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:32089405_32089406CC>TT	uc003jhl.3	+	19	6239_6240	c.5851_5852CC>TT	c.(5851-5853)ccc>TTc	p.P1951F	PDZD2_uc003jhm.3_Missense_Mutation_p.P1951F	NM_178140	NP_835260	O15018	PDZD2_HUMAN	Homo sapiens PDZ domain containing 2 (PDZD2), mRNA.	1951					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						CACAGCTGCCCCCAGGTCCCCC	0.579000														49			16		0	0	6.4e-05	0	0
NLRP3	114548	broad.mit.edu	37	1	247588833	247588833	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:247588833G>A	uc001icr.3	+	4	2226	c.2088G>A	c.(2086-2088)aaG>aaA	p.K696K	NLRP3_uc001ics.3_Silent_p.K696K|NLRP3_uc001icu.3_Silent_p.K696K|NLRP3_uc001icw.3_Silent_p.K696K|NLRP3_uc001icv.3_Silent_p.K696K|NLRP3_uc010pyw.2_Silent_p.K694K|NLRP3_uc001ict.1_Silent_p.K694K	NM_001079821	NP_001230062	Q96P20	NALP3_HUMAN	Homo sapiens NLR family, pyrin domain containing 3 (NLRP3), transcript variant 3, mRNA.	696	Poly-Glu.				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			AGGAGGAAAAGGAAGGCCGAC	0.527000														38			6		0	0	0.00307968	0	0
ADAM29	11086	broad.mit.edu	37	4	175897020	175897020	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr4:175897020C>T	uc003iuc.3	+	4	1014	c.344C>T	c.(343-345)tCc>tTc	p.S115F	ADAM29_uc003iud.3_Missense_Mutation_p.S115F|ADAM29_uc010irr.3_Missense_Mutation_p.S115F|ADAM29_uc011cki.2_Missense_Mutation_p.S115F|ADAM29_uc021xuo.1_Missense_Mutation_p.S115F	NM_014269	NP_055084	Q9UKF5	ADA29_HUMAN	Homo sapiens ADAM metallopeptidase domain 29 (ADAM29), transcript variant 1, mRNA.	115					proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding	p.S115F(4)		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)		TCCCTGGTTTCCCTCAGTACC	0.443000														39			21		0	0	0.00188189	0	0
TBC1D1	23216	broad.mit.edu	37	4	38126669	38126669	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr4:38126669G>A	uc003gtb.3	+	17	3407	c.3049G>A	c.(3049-3051)Gaa>Aaa	p.E1017K	TBC1D1_uc011byd.2_Intron|TBC1D1_uc010ifd.3_Missense_Mutation_p.E804K|TBC1D1_uc021xnh.1_Missense_Mutation_p.E114K|TBC1D1_uc021xni.1_Missense_Mutation_p.E114K|TBC1D1_uc003gtd.3_Missense_Mutation_p.E29K	NM_015173	NP_055988	Q86TI0	TBCD1_HUMAN	Homo sapiens TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1 (TBC1D1), transcript variant 1, mRNA.	1017						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						TCTGCAGCATGAAAACCTAGA	0.403000														64			24		0	0	0.00332997	0	0
LONP2	83752	broad.mit.edu	37	16	48296762	48296762	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr16:48296762C>T	uc002efi.1	+	5	1050	c.961C>T	c.(961-963)Cct>Tct	p.P321S	MIR548AE2_uc021thr.1_Intron|LONP2_uc010vgm.1_Non-coding_Transcript|LONP2_uc002efj.1_Missense_Mutation_p.P277S	NM_031490	NP_113678	Q86WA8	LONP2_HUMAN	Homo sapiens lon peptidase 2, peroxisomal (LONP2), mRNA.	321					misfolded or incompletely synthesized protein catabolic process|protein targeting to peroxisome|signal peptide processing	nucleoid|peroxisomal matrix	ATP binding|ATP-dependent peptidase activity|enzyme binding|sequence-specific DNA binding|serine-type endopeptidase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						GGTAGAACTTCCTTGGAACAA	0.348000														18			15		0	0	0.000566183	0	0
OR51F2	119694	broad.mit.edu	37	11	4843204	4843204	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:4843204G>A	uc010qyn.2	+	0	589	c.589G>A	c.(589-591)Gat>Aat	p.D197N		NM_001004753	NP_001004753	Q8NH61	O51F2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily F, member 2 (OR51F2), mRNA.	197					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTACCATGTTGATCTCATCCA	0.463000														96			50		0	0	0.00361006	0	0
ALMS1	7840	broad.mit.edu	37	2	73651929	73651929	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:73651929A>G	uc002sje.1	+	4	1247	c.1136A>G	c.(1135-1137)aAc>aGc	p.N379S	ALMS1_uc002sjf.1_Missense_Mutation_p.N337S	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Homo sapiens Alstrom syndrome 1 (ALMS1), mRNA.	379					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						ACTGATGAAAACATAGCTACT	0.373000														36			19		0	0	0.000958276	0	0
CDH13	1012	broad.mit.edu	37	16	83636148	83636148	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr16:83636148G>A	uc010vns.2	+	8	1455	c.1191G>A	c.(1189-1191)acG>acA	p.T397T	CDH13_uc002fgx.3_Silent_p.T350T|CDH13_uc010vnt.2_Silent_p.T96T|CDH13_uc010vnu.2_Silent_p.T311T	NM_001220488	NP_001207417	P55290	CAD13_HUMAN	Homo sapiens cadherin 13, H-cadherin (heart) (CDH13), transcript variant 2, mRNA.	350	Cadherin 3.				Rac protein signal transduction|Rho protein signal transduction|adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		CCACAGCCACGATCATGATCG	0.463000														143			12		0	0	0.00136819	0	0
DEM1	64789	broad.mit.edu	37	1	40980291	40980291	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:40980291C>T	uc001cfp.3	+	2	280	c.75C>T	c.(73-75)ttC>ttT	p.F25F	DEM1_uc001cfq.3_Silent_p.F25F|DEM1_uc001cfr.3_Silent_p.F25F|DEM1_uc021omb.1_Silent_p.F25F	NM_022774	NP_073611	Q9H790	EXO5_HUMAN	Homo sapiens defects in morphology 1 homolog (S. cerevisiae) (DEM1), mRNA.	25							DNA binding|exonuclease activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|stomach(1)|urinary_tract(2)	10						ACTCAGAGTTCCTGGAGTTTC	0.493000														60			70		0	0	0.00361006	0	0
SLITRK6	84189	broad.mit.edu	37	13	86370608	86370608	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr13:86370608G>A	uc001vll.1	-	1	495	c.36C>T	c.(34-36)ctC>ctT	p.L12L	SLITRK6_uc021rla.1_Silent_p.L12L	NM_032229	NP_115605	Q9H5Y7	SLIK6_HUMAN	Homo sapiens SLIT and NTRK-like family, member 6 (SLITRK6), mRNA.	12						integral to membrane		p.L12P(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		TACAGGCAAGGAGAGATGAAT	0.408000														29			20		0	0	0.00188189	0	0
PRB3	5544	broad.mit.edu	37	12	11420818	11420818	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:11420818C>T	uc001qzs.3	-	2	403	c.365G>A	c.(364-366)gGa>gAa	p.G122E	PRB4_uc001qzf.1_Intron	NM_006249	NP_006240	Q04118	PRB3_HUMAN	Homo sapiens proline-rich protein BstNI subfamily 3 (PRB3), mRNA.	122	10 X 21 AA tandem repeats of [RH]-P-G-K- P-[EQ]-G-[PQS]-P-[PS]-Q-[GE]-G-N-[QK]- [SP]-[QR]-[GR]-P-P-P.|Pro-rich.					extracellular region	Gram-negative bacterial cell surface binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			TGGGGGTGGTCCTTCTGGCTT	0.637000														65			36		0	0	0.00361006	0	0
PSG5	5673	broad.mit.edu	37	19	43679591	43679591	+	Missense_Mutation	SNP	G	A	A	rs144866823		TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:43679591G>A	uc002ovu.3	-	3	871	c.740C>T	c.(739-741)tCa>tTa	p.S247L	PSG4_uc010xwk.1_Intron|PSG5_uc002ovx.3_Missense_Mutation_p.S247L	NM_002781	NP_002772	Q15238	PSG5_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 5 (PSG5), transcript variant 1, mRNA.	247	Ig-like C2-type 2.				female pregnancy	extracellular region		p.S247L(2)		breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				ATAGGTGAATGAAGGGTAAAT	0.483000														136			52		0	0	0.00361006	0	0
ACSF2	80221	broad.mit.edu	37	17	48551159	48551159	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr17:48551159G>A	uc010wmm.1	+	13	1788	c.1684G>A	c.(1684-1686)Gaa>Aaa	p.E562K	ACSF2_uc002iqu.2_Missense_Mutation_p.E537K|ACSF2_uc010wml.1_Missense_Mutation_p.E494K|ACSF2_uc010wmn.1_Missense_Mutation_p.E524K|ACSF2_uc010wmo.1_Missense_Mutation_p.E377K|ACSF2_uc010dbt.1_Missense_Mutation_p.E41K	NM_025149	NP_079425	Q96CM8	ACSF2_HUMAN	Homo sapiens acyl-CoA synthetase family member 2 (ACSF2), mRNA.	537					fatty acid metabolic process	mitochondrion	ATP binding|ligase activity			endometrium(7)|kidney(3)|large_intestine(1)|lung(1)|stomach(1)	13	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			GAAGGTGCAGGAAGTGCAGGT	0.532000														63			25		0	0	0.00106085	0	0
OBSL1	23363	broad.mit.edu	37	2	220429980	220429980	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:220429980G>A	uc010fwk.3	-	5	2705	c.2391C>T	c.(2389-2391)ttC>ttT	p.F797F	OBSL1_uc010zli.1_5'Flank|OBSL1_uc010fwl.2_Silent_p.F797F|OBSL1_uc002vmi.3_Silent_p.F797F	NM_015311	NP_056126	O75147	OBSL1_HUMAN	Homo sapiens obscurin-like 1 (OBSL1), transcript variant 1, mRNA.	797	Ig-like 5.				cardiac myofibril assembly	M band|Z disc|intercalated disc|perinuclear region of cytoplasm	cytoskeletal adaptor activity						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		CAGTGACGCCGAAGAAGGCCG	0.602000														7			4		0	0	0.00024832	0	0
GPR115	221393	broad.mit.edu	37	6	47682214	47682214	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:47682214C>T	uc003oyz.1	+	6	1404	c.1404C>T	c.(1402-1404)gtC>gtT	p.V468V	GPR115_uc003oza.1_Silent_p.V411V|GPR115_uc003ozb.1_Silent_p.V411V|RN7SK_uc021zaf.1_5'Flank	NM_153838	NP_722580	Q8IZF3	GP115_HUMAN	Homo sapiens G protein-coupled receptor 115 (GPR115), mRNA.	411					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						GGCTCAGCGTCTCAATCCTAA	0.488000														36			17		0	0	0.000566183	0	0
SEPHS1	22929	broad.mit.edu	37	10	13371744	13371744	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr10:13371744G>A	uc001imk.3	-	5	982	c.605C>T	c.(604-606)cCc>cTc	p.P202L	SEPHS1_uc001imh.3_Missense_Mutation_p.P126L|SEPHS1_uc010qbs.2_Missense_Mutation_p.P154L|SEPHS1_uc010qbt.2_Missense_Mutation_p.P135L|SEPHS1_uc021pnc.1_Missense_Mutation_p.P202L|SEPHS1_uc021pnd.1_Missense_Mutation_p.P202L|SEPHS1_uc009xje.3_Missense_Mutation_p.P202L	NM_012247	NP_001182531	P49903	SPS1_HUMAN	Homo sapiens selenophosphate synthetase 1 (SEPHS1), transcript variant 1, mRNA.	202					protein modification process		ATP binding|GTP binding|selenide, water dikinase activity			cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|stomach(1)	16						TGTCCCCAGGGGTTTTGTCAG	0.527000														6			5		0	0	0.00116845	0	0
ATOH8	84913	broad.mit.edu	37	2	85991120	85991120	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:85991120T>A	uc002sqm.4	+	1	1179	c.775T>A	c.(775-777)Tgc>Agc	p.C259S	ATOH8_uc002sqn.3_Missense_Mutation_p.C259S	NM_032827	NP_116216	Q96SQ7	ATOH8_HUMAN	Homo sapiens atonal homolog 8 (Drosophila) (ATOH8), mRNA.	259	Helix-loop-helix motif.				cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			cervix(1)|endometrium(1)|large_intestine(1)|lung(2)	5						TCAGGTGCCGTGCTACTCATA	0.617000														13			4		0	0	0.00116845	0	0
PRKACG	5568	broad.mit.edu	37	9	71628928	71628928	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr9:71628928G>A	uc004agy.3	-	0	112	c.81C>T	c.(79-81)ttC>ttT	p.F27F		NM_002732	NP_002723	P22612	KAPCG_HUMAN	Homo sapiens protein kinase, cAMP-dependent, catalytic, gamma (PRKACG), mRNA.	27					activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|gluconeogenesis|intracellular protein kinase cascade|male gonad development|nerve growth factor receptor signaling pathway|regulation of insulin secretion|spermatogenesis|transmembrane transport|triglyceride catabolic process|water transport	cytosol|nucleoplasm	ATP binding|cAMP-dependent protein kinase activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						ATCTGTAGAGGAAATCTCCTC	0.642000														30			31		0	0	0.00428921	0	0
OR10K2	391107	broad.mit.edu	37	1	158389999	158389999	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:158389999G>A	uc010pii.2	-	0	658	c.658C>T	c.(658-660)Cac>Tac	p.H220Y		NM_001004476	NP_001004476	Q6IF99	O10K2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily K, member 2 (OR10K2), mRNA.	220					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_hematologic(112;0.0378)					GAGAGGATGTGAACATAGGAC	0.448000														36			14		0	0	0.00400662	0	0
FAM71B	153745	broad.mit.edu	37	5	156592675	156592675	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:156592675C>T	uc003lwn.3	-	0	605	c.505G>A	c.(505-507)Gaa>Aaa	p.E169K		NM_130899	NP_570969	Q8TC56	FA71B_HUMAN	Homo sapiens family with sequence similarity 71, member B (FAM71B), mRNA.	169						nucleus				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			ACAAGTTTTTCCCAATAGCAA	0.498000														275			117		0	0	0.00361006	0	0
F13A1	2162	broad.mit.edu	37	6	6305667	6305667	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:6305667C>T	uc003mwv.3	-	2	359	c.236G>A	c.(235-237)aGa>aAa	p.R79K	F13A1_uc011dib.2_Intron	NM_000129	NP_000120	P00488	F13A_HUMAN	Homo sapiens coagulation factor XIII, A1 polypeptide (F13A1), mRNA.	79					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	p.R78C(1)|p.R78L(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	AGACTGCCCTCTGCGGACAAT	0.483000														46			18		0	0	0.00074312	0	0
CCDC108	255101	broad.mit.edu	37	2	219874695	219874695	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:219874695G>A	uc002vjl.1	-	26	4505	c.4421C>T	c.(4420-4422)tCc>tTc	p.S1474F		NM_194302	NP_919278	Q6ZU64	CC108_HUMAN	Homo sapiens coiled-coil domain containing 108 (CCDC108), transcript variant 1, mRNA.	1474						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGGCTGCCAGGAGAAGGCAAT	0.552000														29			15		0	0	0.00316338	0	0
FER1L6	654463	broad.mit.edu	37	8	125076785	125076785	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr8:125076785C>T	uc003yqw.3	+	25	3732	c.3526C>T	c.(3526-3528)Cag>Tag	p.Q1176*	AK057332_uc003yqy.1_Intron	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA.	1176						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			ACCTGTAGCCCAGGAGCCACC	0.532000														28			11		0	0	0.000978159	0	0
TNXB	7148	broad.mit.edu	37	6	31978814	31978814	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:31978814C>T	uc021yvf.1	-	4		c.1582_splice	c.e4-1		STK19_uc003nza.3_5'Flank|C4B_uc021yvg.1_5'Flank|STK19_uc003nzb.3_5'Flank			P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB-S, mRNA.						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						TCTGAGGCTCCCCTGAAAACG	0.632000														66			19		0	0	0.00121646	0	0
MYOM2	9172	broad.mit.edu	37	8	2033405	2033405	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr8:2033405G>A	uc003wpx.4	+	13	1665	c.1527G>A	c.(1525-1527)caG>caA	p.Q509Q	MYOM2_uc011kwi.2_Intron	NM_003970	NP_003961	P54296	MYOM2_HUMAN	Homo sapiens myomesin (M-protein) 2, 165kDa (MYOM2), mRNA.	509					muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		GTGACGCCCAGGTTCCAGGGC	0.627000														30			5		0	0	0.00116845	0	0
RBFOX2	23543	broad.mit.edu	37	22	36142011	36142011	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr22:36142011G>A	uc003aon.4	-	12	1382	c.1270C>T	c.(1270-1272)Cat>Tat	p.H424Y	RBFOX2_uc003aom.4_Missense_Mutation_p.H331Y|RBFOX2_uc003aol.4_Missense_Mutation_p.H349Y|RBFOX2_uc003aoj.4_Missense_Mutation_p.H353Y|RBFOX2_uc003aok.4_Silent_p.T336T|RBFOX2_uc003aoh.4_Silent_p.T339T|RBFOX2_uc010gwu.3_Silent_p.T339T|RBFOX2_uc003aoo.4_Missense_Mutation_p.H423Y|RBFOX2_uc021wok.1_Non-coding_Transcript	NM_001082578	NP_001076047	O43251	RFOX2_HUMAN	Homo sapiens RNA binding protein, fox-1 homolog (C. elegans) 2 (RBFOX2), transcript variant 5, mRNA.	363					RNA splicing|estrogen receptor signaling pathway|mRNA processing|negative regulation of transcription, DNA-dependent|regulation of cell proliferation	cytoplasm|nucleus	RNA binding|nucleotide binding|transcription corepressor activity|transcription factor binding			endometrium(4)|large_intestine(7)|lung(7)	18						GCAAGGGCATGGTAGGGGTCG	0.408000														226			87		0	0	0.00361006	0	0
MAGI1	9223	broad.mit.edu	37	3	65439006	65439006	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:65439006C>T	uc003dmn.3	-	5	1495	c.969G>A	c.(967-969)acG>acA	p.T323T	MAGI1_uc003dmm.3_Silent_p.T323T|MAGI1_uc003dmo.3_Silent_p.T323T|MAGI1_uc003dmp.3_Silent_p.T323T|MAGI1_uc010hny.2_Silent_p.T208T|MAGI1_uc021xac.1_Silent_p.T324T|MAGI1_uc003dmr.3_Silent_p.T324T	NM_001033057	NP_001028229	Q96QZ7	MAGI1_HUMAN	Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 1 (MAGI1), transcript variant 3, mRNA.	323	WW 1.				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)		ATGTTGTTTTCGTGTTATGGC	0.403000														80			38		0	0	0.00148497	0	0
MDC1	9656	broad.mit.edu	37	6	30672586	30672586	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:30672586G>A	uc003nrg.4	-	9	4814	c.4374C>T	c.(4372-4374)tcC>tcT	p.S1458S	MDC1_uc003nrf.4_Intron|MDC1_uc011dmp.1_Silent_p.S1065S	NM_014641	NP_055456	Q14676	MDC1_HUMAN	Homo sapiens mediator of DNA-damage checkpoint 1 (MDC1), mRNA.	1458	Interaction with the PRKDC complex.|Pro-rich.				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|kidney(1)|ovary(1)	4						CTGTGGAGGTGGAAGGCTGGA	0.567000								Other conserved DNA damage response genes						127			32		0	0	0.00209593	0	0
SPHKAP	80309	broad.mit.edu	37	2	228883545	228883545	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:228883545G>A	uc002vpq.2	-	6	2072	c.2025C>T	c.(2023-2025)atC>atT	p.I675I	SPHKAP_uc002vpp.2_Silent_p.I675I|SPHKAP_uc010zlx.1_Silent_p.I675I	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	675						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)		AATGCCTCAGGATAACATTGG	0.423000														129			53		0	0	0.00361006	0	0
PRX	57716	broad.mit.edu	37	19	40901188	40901188	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:40901188G>A	uc002onr.3	-	6	3340	c.3071C>T	c.(3070-3072)cCc>cTc	p.P1024L	PRX_uc002onq.3_Missense_Mutation_p.P885L|PRX_uc002ons.3_3'UTR	NM_181882	NP_870998	Q9BXM0	PRAX_HUMAN	Homo sapiens periaxin (PRX), transcript variant 2, mRNA.	1024					axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CCCAAACTTGGGGAGAGCAAA	0.642000														32			17		0	0	0.00121646	0	0
TSPYL6	388951	broad.mit.edu	37	2	54482885	54482885	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:54482885C>T	uc002rxr.2	-	0	525	c.404G>A	c.(403-405)gGg>gAg	p.G135E	ACYP2_uc002rxq.4_Intron	NM_001003937	NP_001003937	Q8N831	TSYL6_HUMAN	Homo sapiens TSPY-like 6 (TSPYL6), mRNA.	135					nucleosome assembly	nucleus				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(1)|ovary(1)|skin(1)|stomach(2)	20						CTCCGACCTCCCTGCCCCACA	0.597000														33			20		0	0	0.00188189	0	0
DYRK2	8445	broad.mit.edu	37	12	68051932	68051932	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:68051932C>T	uc001str.4	+	2	1647	c.1245C>T	c.(1243-1245)ctC>ctT	p.L415L	DYRK2_uc001sts.4_Silent_p.L342L|DYRK2_uc021raa.1_Silent_p.L342L	NM_006482	NP_003574	Q92630	DYRK2_HUMAN	Homo sapiens dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 2 (DYRK2), transcript variant 2, mRNA.	415	Protein kinase.				DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|apoptosis|positive regulation of glycogen biosynthetic process|smoothened signaling pathway	cytoplasm|nucleus	ATP binding|magnesium ion binding|manganese ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	30			Lung(24;6.81e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(7;0.000573)		TAGCAGAGCTCCTGACGGGTT	0.552000														16			9		0	0	0.000442599	0	0
SLC25A31	83447	broad.mit.edu	37	4	128694608	128694608	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr4:128694608G>A	uc003ifl.3	+	5	973	c.827G>A	c.(826-828)gGa>gAa	p.G276E		NM_031291	NP_112581	Q9H0C2	ADT4_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 31 (SLC25A31), nuclear gene encoding mitochondrial protein, mRNA.	276					transmembrane transport	cilium|flagellum|integral to membrane|mitochondrial inner membrane	binding|transporter activity			NS(1)|breast(1)|large_intestine(10)|lung(8)|skin(2)	22						CAACATGAAGGAATCAGTTCC	0.378000														35			24		0	0	0.00278032	0	0
TCF19	6941	broad.mit.edu	37	6	31129706	31129706	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:31129706C>T	uc003nss.3	+	2	1245	c.721C>T	c.(721-723)Cct>Tct	p.P241S	TCF19_uc003nst.3_Missense_Mutation_p.P241S	NM_001077511	NP_009040	Q9Y242	TCF19_HUMAN	Homo sapiens transcription factor 19 (TCF19), transcript variant 2, mRNA.	241	Pro-rich.		P -> L (in dbSNP:rs2073724).		cell proliferation|regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	9						GAGTGAGCCTCCTGAGAACCC	0.577000														58			14		0	0	0.00074312	0	0
FAM75A6	389730	broad.mit.edu	37	9	43630529	43630529	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr9:43630529G>A	uc011lrb.2	-	0	202	c.173C>T	c.(172-174)tCg>tTg	p.S58L		NM_001145196	NP_001138668	Q5VVP1	F75A6_HUMAN	Homo sapiens family with sequence similarity 75, member A6 (FAM75A6), mRNA.	58						integral to membrane				breast(2)|endometrium(3)|kidney(4)|lung(36)|prostate(4)|skin(2)|soft_tissue(1)|stomach(1)|urinary_tract(1)	54						CTTCCCAGGCGATGGTGAGGG	0.463000														100			35		0	0	0.00222228	0	0
IGHG1	3500	broad.mit.edu	37	14	106208459	106208459	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr14:106208459C>T	uc001yse.3	-	3	485	c.39G>A	c.(37-39)gtG>gtA	p.V13V	abParts_uc021ser.1_Non-coding_Transcript|DKFZp686O16217_uc001yrs.3_Intron|DKFZp686O16217_uc001yrt.3_Intron|IGHE_uc001yrw.1_Intron|IGHE_uc001yrx.2_Intron|IGHE_uc001yrz.2_Intron					RecName: Full=Ig gamma-1 chain C region;																		GGCTCACGTCCACCACCACGC	0.592000														34			39		0	0	0.00428921	0	0
MYOM1	8736	broad.mit.edu	37	18	3126851	3126851	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr18:3126851G>A	uc002klp.3	-	18	3173	c.2839C>T	c.(2839-2841)Cgt>Tgt	p.R947C	MYOM1_uc002klq.3_Missense_Mutation_p.R851C	NM_003803	NP_003794	P52179	MYOM1_HUMAN	Homo sapiens myomesin 1, 185kDa (MYOM1), transcript variant 1, mRNA.	947	Fibronectin type-III 4.					striated muscle myosin thick filament	structural constituent of muscle	p.R947C(2)		NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						ATTGAGTCACGAAAACTTTCA	0.423000														15			5		0	0	0.00116845	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140166324	140166324	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:140166324C>T	uc003lhb.2	+	0	449	c.449C>T	c.(448-450)tCg>tTg	p.S150L	PCDHAC2_uc003lha.2_Missense_Mutation_p.S150L|PCDHAC2_uc003lgz.3_Missense_Mutation_p.S150L	NM_018900	NP_061723	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 1 (PCDHA1), transcript variant 1, mRNA.	165	Cadherin 2.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.R150Q(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCCTGAATTCGCGTTTTCCG	0.443000														73			22		0	0	0.000878237	0	0
C2orf71	388939	broad.mit.edu	37	2	29293647	29293647	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:29293647C>T	uc002rmt.2	-	0	3481	c.3481G>A	c.(3481-3483)Gaa>Aaa	p.E1161K		NM_001029883	NP_001025054	A6NGG8	CB071_HUMAN	Homo sapiens chromosome 2 open reading frame 71 (C2orf71), mRNA.	1161					response to stimulus|visual perception	photoreceptor outer segment				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						TTCCAGCATTCTGCTGGGTTC	0.622000														22			14		0	0	0.00244969	0	0
ANKRD30BP2	149992	broad.mit.edu	37	21	14424209	14424209	+	RNA	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr21:14424209G>A	uc002yiy.3	+	4		c.3024G>A			ANKRD30BP2_uc002yja.4_Non-coding_Transcript					Homo sapiens ankyrin repeat domain 30B pseudogene 2 (ANKRD30BP2), non-coding RNA.																		AACACCTGACGAATAGGATAC	0.448000														29			6		0	0	0.00307968	0	0
TMPRSS15	5651	broad.mit.edu	37	21	19685373	19685373	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr21:19685373G>A	uc002ykw.3	-	17	2085	c.2054C>T	c.(2053-2055)aCg>aTg	p.T685M		NM_002772	NP_002763	P98073	ENTK_HUMAN	Homo sapiens transmembrane protease, serine 15 (TMPRSS15), mRNA.	685	SRCR.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			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						ATTGTTGTTCGTtgtgccatt	0.443000														59			28		0	0	0.00209593	0	0
BLM	641	broad.mit.edu	37	15	91303999	91304000	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr15:91303999_91304000GG>TT	uc002bpr.3	+	6	1493_1494	c.1396_1397GG>TT	c.(1396-1398)ggg>TTg	p.G466L	BLM_uc010uqh.2_Missense_Mutation_p.G466L|BLM_uc010uqi.2_Missense_Mutation_p.G91L|BLM_uc010bnx.3_Missense_Mutation_p.G466L	NM_000057	NP_000048	P54132	BLM_HUMAN	Homo sapiens Bloom syndrome, RecQ helicase-like (BLM), mRNA.	466					G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|double-strand break repair via homologous recombination|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray	PML body|cytoplasm|lateral element|nuclear matrix|nucleolus	ATP binding|DNA strand annealing activity|G-quadruplex DNA binding|bubble DNA binding|four-way junction helicase activity|p53 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			TGTTTCTCCTGGGGACTGTTTA	0.436000			"""Mis, N, F"""			"""leukemia, lymphoma, skin squamous cell , other cancers"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome					592			12		0	0	6.4e-05	0	0
GLP1R	2740	broad.mit.edu	37	6	39034008	39034008	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:39034008C>T	uc003ooj.4	+	4	498	c.438C>T	c.(436-438)atC>atT	p.I146I	GLP1R_uc003ooh.2_Non-coding_Transcript|GLP1R_uc003ooi.2_Non-coding_Transcript	NM_002062	NP_002053	P43220	GLP1R_HUMAN	Homo sapiens glucagon-like peptide 1 receptor (GLP1R), mRNA.	146					activation of adenylate cyclase activity|cAMP-mediated signaling|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	glucagon receptor activity|peptide receptor activity, G-protein coupled			breast(5)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	31					Exenatide(DB01276)|Glucagon recombinant(DB00040)	TCCTCTACATCATCTACACGG	0.612000														26			5		0	0	0.00198382	0	0
ZNF560	147741	broad.mit.edu	37	19	9577554	9577554	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:9577554C>T	uc002mlp.1	-	9	2279	c.2069G>A	c.(2068-2070)gGa>gAa	p.G690E	ZNF560_uc010dwr.1_Missense_Mutation_p.G584E	NM_152476	NP_689689	Q96MR9	ZN560_HUMAN	Homo sapiens zinc finger protein 560 (ZNF560), mRNA.	690					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						AAAGGAATTTCCACATGCGTT	0.373000														103			47		0	0	0.00361006	0	0
FAM135B	51059	broad.mit.edu	37	8	139190802	139190802	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr8:139190802G>A	uc003yuy.3	-	9	1176	c.1005C>T	c.(1003-1005)ctC>ctT	p.L335L	FAM135B_uc003yux.3_Silent_p.L236L|FAM135B_uc003yuz.3_Non-coding_Transcript	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA.	335								p.L335L(3)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			GTTCCTGGGTGAGATAAGTGG	0.498000										HNSCC(54;0.14)				37			17		0	0	0.00152264	0	0
FAT4	79633	broad.mit.edu	37	4	126241933	126241934	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr4:126241933_126241934CC>TT	uc003ifj.4	+	0	4367_4368	c.4367_4368CC>TT	c.(4366-4368)tcc>tTT	p.S1456F		NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	1456	Cadherin 14.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GGTCAACTATCCTACACAATCA	0.391000														58			25		0	0	6.4e-05	0	0
MRAP2	112609	broad.mit.edu	37	6	84765138	84765138	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:84765138C>T	uc003pkg.4	+	1	291	c.101C>T	c.(100-102)tCc>tTc	p.S34F	MRAP2_uc010kbo.3_5'UTR	NM_138409	NP_612418	Q96G30	MRAP2_HUMAN	Homo sapiens melanocortin 2 receptor accessory protein 2 (MRAP2), mRNA.	34					positive regulation of cAMP biosynthetic process|protein localization at cell surface	endoplasmic reticulum|plasma membrane	corticotropin hormone receptor binding|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding|type 5 melanocortin receptor binding			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(4)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	19						GGACCAGTTTCCTTTGAAGGA	0.373000														40			17		0	0	0.000958276	0	0
HNF4G	3174	broad.mit.edu	37	8	76456138	76456138	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr8:76456138T>C	uc003yaq.3	+	2	340	c.70T>C	c.(70-72)Tat>Cat	p.Y24H	HNF4G_uc003yap.1_Missense_Mutation_p.Y24H|HNF4G_uc003yar.3_Missense_Mutation_p.Y61H	NM_004133	NP_004124	Q14541	HNF4G_HUMAN	Homo sapiens hepatocyte nuclear factor 4, gamma (HNF4G), mRNA.	24					endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	37	Breast(64;0.0448)		BRCA - Breast invasive adenocarcinoma(89;0.161)			AGGAAAACACTATGGGGCATC	0.468000														39			11		0	0	0.000978159	0	0
NLRC5	84166	broad.mit.edu	37	16	57060873	57060873	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr16:57060873C>T	uc021tiu.1	+	4	2145	c.2018C>T	c.(2017-2019)cCc>cTc	p.P673L	NLRC5_uc021tit.1_Missense_Mutation_p.P673L|NLRC5_uc010ccq.1_Non-coding_Transcript|NLRC5_uc021tiv.1_Missense_Mutation_p.P478L|NLRC5_uc021tiw.1_Missense_Mutation_p.P478L|NLRC5_uc010ccr.1_Non-coding_Transcript	NM_032206	NP_115582	Q86WI3	NLRC5_HUMAN	Homo sapiens NLR family, CARD domain containing 5 (NLRC5), mRNA.	673					defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|RNA polymerase II core promoter sequence-specific DNA binding|protein binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				GATGGCTGTCCCCTGGAGCCC	0.597000														19			10		0	0	0.000978159	0	0
PAPOLA	10914	broad.mit.edu	37	14	97022680	97022680	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr14:97022680C>T	uc001yfq.3	+	18	2151	c.1934C>T	c.(1933-1935)cCt>cTt	p.P645L	PAPOLA_uc001yfr.3_Missense_Mutation_p.P644L|PAPOLA_uc010twv.2_Missense_Mutation_p.P645L|PAPOLA_uc010avp.3_Missense_Mutation_p.P395L	NM_032632	NP_116021	P51003	PAPOA_HUMAN	Homo sapiens poly(A) polymerase alpha (PAPOLA), transcript variant 1, mRNA.	645					mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cytoplasm|nucleoplasm	ATP binding|RNA binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity	p.T644A(1)		breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.213)		ATACCTACTCCTATAGTAGGA	0.403000														49			38		0	0	0.00170553	0	0
TFCP2L1	29842	broad.mit.edu	37	2	121989510	121989511	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:121989510_121989511GG>AA	uc002tmx.3	-	12	1325_1326	c.1232_1233CC>TT	c.(1231-1233)acc>aTT	p.T411I	TFCP2L1_uc010flr.3_Intron|TFCP2L1_uc010flq.3_Intron	NM_014553	NP_055368	Q9NZI6	TF2L1_HUMAN	Homo sapiens transcription factor CP2-like 1 (TFCP2L1), mRNA.	411					female pregnancy|steroid biosynthetic process	mitochondrion|nucleolus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)|pancreas(2)|skin(1)|stomach(1)	22	Renal(3;0.01)					TCAGCTCCAAGGTGGTCAGCTC	0.599000														56			19		0	0	6.4e-05	0	0
TDRD1	56165	broad.mit.edu	37	10	115985903	115985903	+	Missense_Mutation	SNP	C	T	T	rs141065182		TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr10:115985903C>T	uc001lbg.1	+	21	3256	c.3103C>T	c.(3103-3105)Ctt>Ttt	p.L1035F	TDRD1_uc001lbf.3_Missense_Mutation_p.L912F|TDRD1_uc001lbh.1_Missense_Mutation_p.L1022F|TDRD1_uc001lbi.1_Missense_Mutation_p.L1026F|TDRD1_uc010qsc.2_Missense_Mutation_p.L639F|TDRD1_uc001lbj.3_Missense_Mutation_p.L744F	NM_198795	NP_942090	Q9BXT4	TDRD1_HUMAN	Homo sapiens tudor domain containing 1 (TDRD1), mRNA.	1035	Tudor 4.				DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		AACCCTGCCTCTTTGCAGAGT	0.438000														28			11		0	0	0.000978159	0	0
PLXNA4	91584	broad.mit.edu	37	7	131887442	131887442	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:131887442C>T	uc003vra.4	-	11	2778	c.2549G>A	c.(2548-2550)gGt>gAt	p.G850D		NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA.	850	PSI 3.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						GCTTTTGGCACCAGACAGCTC	0.662000														23			13		0	0	0.00136819	0	0
ADAM7	8756	broad.mit.edu	37	8	24342819	24342819	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr8:24342819G>A	uc003xeb.3	+	9	1018	c.905G>A	c.(904-906)gGa>gAa	p.G302E	ADAM7_uc003xec.3_Missense_Mutation_p.G74E	NM_003817	NP_003808	Q9H2U9	ADAM7_HUMAN	Homo sapiens ADAM metallopeptidase domain 7 (ADAM7), mRNA.	302	Peptidase M12B.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	p.G302E(4)		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)		CATGTGCAAGGAATTTCTTAT	0.343000														89			22		0	0	0.000878237	0	0
FSIP1	161835	broad.mit.edu	37	15	40034077	40034077	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr15:40034077G>A	uc001zki.3	-	5	802	c.584C>T	c.(583-585)aCc>aTc	p.T195I		NM_152597	NP_689810	Q8NA03	FSIP1_HUMAN	Homo sapiens fibrous sheath interacting protein 1 (FSIP1), mRNA.	195										NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	23		all_cancers(109;2.66e-19)|all_epithelial(112;2.66e-16)|Lung NSC(122;1.5e-11)|all_lung(180;4.03e-10)|Melanoma(134;0.0575)|Ovarian(310;0.0827)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;8.22e-06)|BRCA - Breast invasive adenocarcinoma(123;0.142)		TGAGGAAAAGGTGTCTTCCTC	0.313000														11			17		0	0	0.00152264	0	0
MYCT1	80177	broad.mit.edu	37	6	153042884	153042884	+	Silent	SNP	T	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:153042884T>A	uc003qpc.4	+	1	212	c.204T>A	c.(202-204)ctT>ctA	p.L68L		NM_025107	NP_079383	Q8N699	MYCT1_HUMAN	Homo sapiens myc target 1 (MYCT1), mRNA.	68						nucleus		p.L68H(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	20		Ovarian(120;0.0654)		OV - Ovarian serous cystadenocarcinoma(155;1.33e-10)|BRCA - Breast invasive adenocarcinoma(81;0.143)		CAGAGGACCTTATCATGTCCT	0.373000														37			21		0	0	0.00229938	0	0
PHF2P1	266695	broad.mit.edu	37	13	19622135	19622135	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr13:19622135C>T	uc001umb.1	-	10		c.3676_splice	c.e10+1							Homo sapiens PHD finger protein 2 pseudogene 1 (PHF2P1), non-coding RNA.																		CAACCAGTACCTTTGAACGCC	0.552000														74			16		0	0	0.00074312	0	0
MUC16	94025	broad.mit.edu	37	19	9061272	9061272	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:9061272C>T	uc002mkp.3	-	2	26378	c.26174G>A	c.(26173-26175)aGa>aAa	p.R8725K		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	8727	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGAAGCACTTCTCTCTGTTGC	0.512000														32			13		0	0	0.00244969	0	0
CXCR7	57007	broad.mit.edu	37	2	237489660	237489660	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:237489660G>A	uc021vys.1	+	0	552	c.552G>A	c.(550-552)aaG>aaA	p.K184K	CXCR7_uc010fyq.3_Silent_p.K184K|CXCR7_uc002vwd.3_Silent_p.K184K	NM_020311	NP_064707	P25106	CXCR7_HUMAN	Homo sapiens chemokine (C-X-C motif) receptor 7 (CXCR7), mRNA.	184					interspecies interaction between organisms	integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			central_nervous_system(1)|large_intestine(2)|skin(1)	4		Breast(86;0.000182)|Renal(207;0.00339)|all_hematologic(139;0.0048)|Acute lymphoblastic leukemia(138;0.0775)|Ovarian(221;0.089)|all_lung(227;0.147)|all_neural(83;0.223)		Epithelial(121;8.35e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.09e-11)|Kidney(56;1.11e-07)|KIRC - Kidney renal clear cell carcinoma(57;3.03e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000176)|Lung(119;0.00468)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.118)		ACTACCTGAAGACCGTCACGT	0.592000														65			45		0	0	0.00361006	0	0
RPP40	10799	broad.mit.edu	37	6	4995466	4995466	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:4995466G>A	uc003mwl.3	-	7	973	c.938C>T	c.(937-939)tCc>tTc	p.S313F	RPP40_uc003mwm.3_Missense_Mutation_p.S290F	NM_006638	NP_006629	O75818	RPP40_HUMAN	Homo sapiens ribonuclease P/MRP 40kDa subunit (RPP40), mRNA.	313					tRNA processing	nucleolar ribonuclease P complex	protein binding|ribonuclease P activity			NS(1)|breast(1)|large_intestine(4)|lung(4)|ovary(1)|skin(2)|urinary_tract(1)	14	Ovarian(93;0.11)	all_hematologic(90;0.0895)				GCCTTGAACGGACAGTGTAAC	0.358000														44			12		0	0	0.00136819	0	0
DNAH5	1767	broad.mit.edu	37	5	13717512	13717512	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:13717512C>T	uc003jfd.2	-	72	12659	c.12617G>A	c.(12616-12618)tGg>tAg	p.W4206*	DNAH5_uc003jfc.2_Nonsense_Mutation_p.W374*	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	4206	AAA 6 (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)					GGGGATATTCCACCCCAGGGC	0.547000									Kartagener syndrome					21			7		0	0	0.00198382	0	0
CAPSL	133690	broad.mit.edu	37	5	35904728	35904728	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:35904728C>T	uc003jjt.1	-	4	641	c.546G>A	c.(544-546)atG>atA	p.M182I	CAPSL_uc003jju.1_Missense_Mutation_p.M182I	NM_001042625	NP_653248	Q8WWF8	CAPSL_HUMAN	Homo sapiens calcyphosine-like (CAPSL), transcript variant 2, mRNA.	182	EF-hand 4.					cytoplasm	calcium ion binding			central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(10)|skin(1)|urinary_tract(1)	19	all_lung(31;0.000268)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.167)|Colorectal(62;0.202)			CATAGTAGTTCATGAACTCCT	0.478000														57			26		0	0	0.00106085	0	0
UNC45A	55898	broad.mit.edu	37	15	91485780	91485781	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr15:91485780_91485781CC>AA	uc002bqg.3	+	6	1141_1142	c.801_802CC>AA	c.(799-804)gccctc>gcAAtc	p.L268I	UNC45A_uc002bqd.3_Missense_Mutation_p.L253I|UNC45A_uc010uqo.1_Missense_Mutation_p.L260I|UNC45A_uc010uqp.1_Non-coding_Transcript|UNC45A_uc010uqq.1_Missense_Mutation_p.L268I	NM_018671	NP_061141	Q9H3U1	UN45A_HUMAN	Homo sapiens unc-45 homolog A (C. elegans) (UNC45A), transcript variant 2, mRNA.	268					cell differentiation|muscle organ development	nucleus|perinuclear region of cytoplasm	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			TGTTTGATGCCCTCAAGGAAGG	0.550000														618			14		0	0	6.4e-05	0	0
UBC	7316	broad.mit.edu	37	17	21731223	21731223	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr17:21731223C>T	uc002gyy.3	+	1	650	c.525C>T	c.(523-525)atC>atT	p.I175I				P0CG48	UBC_HUMAN	SubName: Full=Uncharacterized protein;	327	Ubiquitin-like 3.				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|JNK cascade|M/G1 transition of mitotic cell cycle|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|S phase of mitotic cell cycle|T cell receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|innate immune response|mRNA metabolic process|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		GTGACACCATCGAAAATGTGA	0.547000														26			21		0	0	0.00332997	0	0
C10orf12	26148	broad.mit.edu	37	10	98742252	98742252	+	Missense_Mutation	SNP	G	A	A	rs139771197		TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr10:98742252G>A	uc001kmv.3	+	0	1212	c.1105G>A	c.(1105-1107)Ggg>Agg	p.G369R	C10orf12_uc009xvg.2_Missense_Mutation_p.G679R	NM_015652	NP_056467	Q8N655	CJ012_HUMAN	Homo sapiens chromosome 10 open reading frame 12 (C10orf12), mRNA.	369										NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		AAGCTTTTCCGGGGGAGTCAG	0.488000														40			26		0	0	0.000878237	0	0
ERCC6L	54821	broad.mit.edu	37	X	71425870	71425870	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chrX:71425870T>C	uc004eaq.1	-	1	2844	c.2747A>G	c.(2746-2748)gAa>gGa	p.E916G	PIN4_uc004eao.2_Intron|ERCC6L_uc004eap.1_Missense_Mutation_p.E793G	NM_017669	NP_060139	Q2NKX8	ERC6L_HUMAN	Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 6-like (ERCC6L), mRNA.	916					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol	ATP binding|DNA binding|helicase activity|protein binding			breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1)	38	Renal(35;0.156)					ATCAGCTATTTCAATAATGGA	0.403000														9			20		0	0	0.00395357	0	0
NRK	203447	broad.mit.edu	37	X	105189954	105189954	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chrX:105189954C>T	uc004emd.3	+	24	4450	c.4147C>T	c.(4147-4149)Cca>Tca	p.P1383S	NRK_uc011msi.2_5'Flank	NM_198465	NP_940867	Q7Z2Y5	NRK_HUMAN	Homo sapiens Nik related kinase (NRK), mRNA.	1384	CNH.						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						GGCAGCTGATCCAGTGAACCG	0.448000										HNSCC(51;0.14)				6			11		0	0	0.000673444	0	0
SPAG17	200162	broad.mit.edu	37	1	118570916	118570916	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:118570916G>A	uc001ehk.2	-	25	3779	c.3711C>T	c.(3709-3711)ttC>ttT	p.F1237F		NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	Homo sapiens sperm associated antigen 17 (SPAG17), mRNA.	1237						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		CTTGTCCAATGAAAGTCAACA	0.448000														117			38		0	0	0.00170553	0	0
MOGAT3	346606	broad.mit.edu	37	7	100839366	100839366	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:100839366G>A	uc003uyc.3	-	6	1054	c.887C>T	c.(886-888)cCc>cTc	p.P296L	MOGAT3_uc010lhr.3_Silent_p.P228P	NM_178176	NP_835470	Q86VF5	MOGT3_HUMAN	Homo sapiens monoacylglycerol O-acyltransferase 3 (MOGAT3), mRNA.	296					glycerol metabolic process|lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity|diacylglycerol O-acyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(3)	22	Lung NSC(181;0.168)|all_lung(186;0.215)					CTGGGGGACGGGGATGGGGCG	0.672000														6			8		0	0	0.00307968	0	0
ZNF827	152485	broad.mit.edu	37	4	146823949	146823949	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr4:146823949G>A	uc003ikn.3	-	1	510	c.462C>T	c.(460-462)ctC>ctT	p.L154L	ZNF827_uc003ikm.3_Silent_p.L154L|ZNF827_uc010iox.3_Intron	NM_178835	NP_849157	Q17R98	ZN827_HUMAN	Homo sapiens zinc finger protein 827 (ZNF827), mRNA.	154					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					GGGAAAAGGAGAGGTTCGAGC	0.577000														44			10		0	0	0.000673444	0	0
NELL2	4753	broad.mit.edu	37	12	44902763	44902763	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:44902763C>T	uc010skz.1	-	20	2680	c.2555G>A	c.(2554-2556)gGc>gAc	p.G852D	NELL2_uc001rof.3_Missense_Mutation_p.G801D|NELL2_uc001rog.2_Missense_Mutation_p.G802D|NELL2_uc001roh.2_Missense_Mutation_p.G802D|NELL2_uc009zkd.2_Missense_Mutation_p.G754D|NELL2_uc010sla.1_Missense_Mutation_p.G825D	NM_001145107	NP_006150	Q99435	NELL2_HUMAN	Homo sapiens NEL-like 2 (chicken) (NELL2), transcript variant 1, mRNA.	802					cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		ACAGATGTGGCCATTCTAGAT	0.323000														57			17		0	0	0.00121646	0	0
C8orf37	157657	broad.mit.edu	37	8	96259868	96259868	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr8:96259868G>A	uc003yho.2	-	5	646	c.601C>T	c.(601-603)Cgc>Tgc	p.R201C		NM_177965	NP_808880	Q96NL8	CH037_HUMAN	Homo sapiens chromosome 8 open reading frame 37 (C8orf37), mRNA.	201										kidney(1)|large_intestine(1)|lung(5)	7	Breast(36;3.41e-05)					CAAACCCAGCGAAGCTGATGA	0.433000														360			165		0	0	0.00361006	0	0
TCEB3B	51224	broad.mit.edu	37	18	44560087	44560087	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr18:44560087C>T	uc002lcr.1	-	0	1902	c.1549G>A	c.(1549-1551)Ggc>Agc	p.G517S	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.3_Intron	NM_016427	NP_057511	Q8IYF1	ELOA2_HUMAN	Homo sapiens transcription elongation factor B polypeptide 3B (elongin A2) (TCEB3B), mRNA.	517	Activation domain (By similarity).				regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding	p.S516S(1)		breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						GGCCTGGAGCCCGAGTACACC	0.617000														91			34		0	0	0.00111076	0	0
DMXL1	1657	broad.mit.edu	37	5	118484445	118484445	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:118484445T>A	uc010jcl.1	+	17	3104	c.2923T>A	c.(2923-2925)Tca>Aca	p.S975T	DMXL1_uc003ksd.2_Missense_Mutation_p.S975T|DMXL1_uc021ycw.1_Missense_Mutation_p.S802T	NM_005509	NP_005500	Q9Y485	DMXL1_HUMAN	Homo sapiens Dmx-like 1 (DMXL1), mRNA.	975										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		ACATCTGAGTTCATCTTCTAT	0.313000														95			28		0	0	0.001512	0	0
RP1	6101	broad.mit.edu	37	8	55540520	55540520	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr8:55540520G>A	uc003xsd.1	+	3	4226	c.4078G>A	c.(4078-4080)Gaa>Aaa	p.E1360K	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	1360					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GGATTCAACTGAAGAGTTAGA	0.333000														55			20		0	0	0.00188189	0	0
CNTNAP2	26047	broad.mit.edu	37	7	146997273	146997273	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:146997273C>T	uc003weu.2	+	8	1905	c.1389C>T	c.(1387-1389)ttC>ttT	p.F463F	MIR548I4_uc022aoo.1_Intron	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	463	Laminin G-like 2.				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)			AGGTTCGCTTCCTAGCCAAGG	0.408000										HNSCC(39;0.1)				48			27		0	0	0.00178596	0	0
N4BP2	55728	broad.mit.edu	37	4	40104546	40104546	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr4:40104546C>T	uc003guy.4	+	3	1419	c.1081C>T	c.(1081-1083)Ccg>Tcg	p.P361S	N4BP2_uc010ifq.3_Missense_Mutation_p.P281S|N4BP2_uc010ifr.3_Missense_Mutation_p.P281S	NM_018177	NP_060647	Q86UW6	N4BP2_HUMAN	Homo sapiens NEDD4 binding protein 2 (N4BP2), mRNA.	361	Pro-rich.					cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						GCCACCTCCACCGATGTGGAA	0.517000														52			25		0	0	0.000720815	0	0
CYP2C8	1558	broad.mit.edu	37	10	96826976	96826976	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr10:96826976C>T	uc001kkb.3	-	2	565	c.470G>A	c.(469-471)aGa>aAa	p.R157K	CYP2C8_uc010qoa.2_Missense_Mutation_p.R87K|CYP2C8_uc010qoc.2_Missense_Mutation_p.R55K|CYP2C8_uc001kkc.3_Non-coding_Transcript|CYP2C8_uc010qob.2_Missense_Mutation_p.R71K|CYP2C8_uc021pwl.1_Missense_Mutation_p.R87K|CYP2C8_uc010qod.1_Missense_Mutation_p.R71K	NM_000770	NP_000761	P10632	CP2C8_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 8 (CYP2C8), transcript variant 1, mRNA.	157					exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21		Colorectal(252;0.0397)		all cancers(201;6.21e-05)	Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198)	CTTGGTTTTTCTCAACTCCTC	0.517000														49			52		0	0	0.00361006	0	0
BAI3	577	broad.mit.edu	37	6	69944939	69944939	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:69944939G>A	uc010kak.3	+	17	2899	c.2623G>A	c.(2623-2625)Ggc>Agc	p.G875S	BAI3_uc003pev.4_Missense_Mutation_p.G875S|BAI3_uc011dxx.2_Missense_Mutation_p.G81S	NM_001704	NP_001695	O60242	BAI3_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 3 (BAI3), mRNA.	875					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				GGAATCCTCTGGCACACCTTC	0.358000														103			56		0	0	0.00361006	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140753756	140753756	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:140753756C>T	uc003ljy.2	+	0	106	c.106C>T	c.(106-108)Ccc>Tcc	p.P36S	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc011dau.2_Missense_Mutation_p.P36S	NM_018919	NP_061742	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 6 (PCDHGA6), transcript variant 1, mRNA.	36	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)			CTACTCTATTCCCGAGGAGCT	0.662000														14			8		0	0	0.000274275	0	0
MYH4	4622	broad.mit.edu	37	17	10353861	10353861	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr17:10353861C>T	uc002gmn.3	-	29	4201	c.4090G>A	c.(4090-4092)Gga>Aga	p.G1364R	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	1364					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TTGGACATTCCCCTCTGCAGC	0.612000														39			36		0	0	0.00170553	0	0
DYSF	8291	broad.mit.edu	37	2	71894519	71894519	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:71894519C>T	uc010fen.3	+	47	5472	c.5331C>T	c.(5329-5331)atC>atT	p.I1777I	DYSF_uc010fei.3_Silent_p.I1755I|DYSF_uc010feh.3_Silent_p.I1745I|DYSF_uc002sig.4_Silent_p.I1724I|DYSF_uc010yqx.2_Non-coding_Transcript|DYSF_uc010feg.3_Silent_p.I1769I|DYSF_uc010fee.3_Silent_p.I1759I|DYSF_uc010fef.3_Silent_p.I1776I|DYSF_uc002sie.3_Silent_p.I1738I|DYSF_uc010feo.3_Silent_p.I1770I|DYSF_uc010fej.3_Silent_p.I1746I|DYSF_uc010fel.3_Silent_p.I1725I|DYSF_uc010fem.3_Silent_p.I1760I|DYSF_uc002sif.3_Silent_p.I1739I|DYSF_uc010fek.3_Silent_p.I1756I|DYSF_uc010yqy.2_Silent_p.I619I|DYSF_uc010yqz.2_Silent_p.I499I	NM_001130987	NP_001124459	O75923	DYSF_HUMAN	Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA.	1738						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						CTGGCAGGATCCCAAACCCAC	0.622000														73			19		0	0	0.00229938	0	0
FAM127A	8933	broad.mit.edu	37	X	134166496	134166497	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chrX:134166496_134166497CC>TT	uc004eyd.3	+	0	164_165	c.83_84CC>TT	c.(82-84)ccc>cTT	p.P28L		NM_001078171	NP_001071639	A6ZKI3	F127A_HUMAN	Homo sapiens family with sequence similarity 127, member A (FAM127A), mRNA.	28										endometrium(3)|urinary_tract(1)	4	Acute lymphoblastic leukemia(192;0.000127)					AACCCGATTCCCTTTCCCGAGA	0.634000														16			29		0	0	6.4e-05	0	0
OR2V2	285659	broad.mit.edu	37	5	180582573	180582573	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:180582573C>T	uc011dhj.2	+	0	631	c.631C>T	c.(631-633)Cca>Tca	p.P211S		NM_206880	NP_996763	Q96R30	OR2V2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily V, member 2 (OR2V2), mRNA.	211					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(89;8.26e-06)|all_epithelial(37;1.02e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.0103)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0652)|all_lung(500;0.149)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCTTCTCTTCCCATTCTCCAT	0.502000														120			41		0	0	0.00222228	0	0
MICA	100507436	broad.mit.edu	37	6	31378479	31378479	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:31378479T>A	uc003ntk.1	+	1	269	c.230T>A	c.(229-231)cTg>cAg	p.L77Q	MICA_uc003rxz.1_5'UTR|MICA_uc021yun.1_5'UTR|MICA_uc021yuo.1_5'UTR	NM_001177519	NP_001170990	Q29983	MICA_HUMAN	Homo sapiens MHC class I polypeptide-related sequence A (MICA), transcript variant 1 (allele MICA*00801), mRNA.	77					antigen processing and presentation|cytolysis|defense response to bacterium|defense response to virus|gamma-delta T cell activation|immune response to tumor cell|response to DNA damage stimulus|response to heat|stimulatory C-type lectin receptor signaling pathway	MHC class I protein complex|cell surface|cytoplasm|extracellular space|integral to plasma membrane	natural killer cell lectin-like receptor binding			breast(1)|endometrium(3)|kidney(1)	5		Ovarian(999;0.0253)				GAAGATGTCCTGGGAAATAAG	0.542000														11			5		0	0	0.000602214	0	0
SLC45A4	57210	broad.mit.edu	37	8	142228931	142228931	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr8:142228931C>T	uc003ywd.1	-	3	963	c.655G>A	c.(655-657)Ggc>Agc	p.G219S	SLC45A4_uc003ywc.1_Missense_Mutation_p.G219S|SLC45A4_uc010meq.1_Missense_Mutation_p.G217S	NM_001080431	NP_001073900	Q5BKX6	S45A4_HUMAN	Homo sapiens solute carrier family 45, member 4 (SLC45A4), mRNA.	270					transport	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			TCCAGGGCGCCGGGCTCCTCA	0.672000														34			20		0	0	0.00121646	0	0
COL4A6	1288	broad.mit.edu	37	X	107447583	107447583	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chrX:107447583G>A	uc004enw.4	-	11	853	c.750C>T	c.(748-750)ttC>ttT	p.F250F	COL4A6_uc004env.4_Silent_p.F249F|COL4A6_uc011msn.2_Silent_p.F249F|COL4A6_uc010npk.3_Silent_p.F249F	NM_001847	NP_001838	Q14031	CO4A6_HUMAN	Homo sapiens collagen, type IV, alpha 6 (COL4A6), transcript variant A, mRNA.	250	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						GGAATCCCATGAATTCCAGCT	0.398000									Alport syndrome with Diffuse Leiomyomatosis					9			20		0	0	0.00332997	0	0
DMXL2	23312	broad.mit.edu	37	15	51829950	51829950	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr15:51829950G>A	uc010ufy.2	-	10	1577	c.1352C>T	c.(1351-1353)tCc>tTc	p.S451F	DMXL2_uc002abf.3_Missense_Mutation_p.S451F|DMXL2_uc010bfa.3_Missense_Mutation_p.S451F	NM_001174116	NP_001167587	Q8TDJ6	DMXL2_HUMAN	Homo sapiens Dmx-like 2 (DMXL2), transcript variant 1, mRNA.	451						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		TCTATCCAGGGATAAATCTGA	0.323000														14			7		0	0	0.00198382	0	0
ICA1	3382	broad.mit.edu	37	7	8258070	8258070	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:8258070G>A	uc003sro.4	-	5	580	c.444C>T	c.(442-444)gcC>gcT	p.A148A	ICA1_uc010ktr.3_Silent_p.A148A|ICA1_uc003srm.3_Silent_p.A148A|ICA1_uc003srn.4_Silent_p.A74A|ICA1_uc003srq.3_Silent_p.A148A|ICA1_uc003srr.3_Silent_p.A147A|ICA1_uc010kts.3_Non-coding_Transcript|ICA1_uc003srs.1_Silent_p.A148A	NM_001136020	NP_071682	Q05084	ICA69_HUMAN	Homo sapiens islet cell autoantigen 1, 69kDa (ICA1), mRNA.	148	AH.				neurotransmitter transport	Golgi membrane|cell junction|cytosol|nucleus|secretory granule membrane|synaptic vesicle membrane|transport vesicle membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	23		Ovarian(82;0.0612)		UCEC - Uterine corpus endometrioid carcinoma (126;0.246)		TATCTGAGATGGCCCGATGCC	0.483000														47			21		0	0	0.00121646	0	0
CD2	914	broad.mit.edu	37	1	117311132	117311132	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:117311132G>A	uc001egu.4	+	4	812	c.783G>A	c.(781-783)agG>agA	p.R261R		NM_001767	NP_001758	P06729	CD2_HUMAN	Homo sapiens CD2 molecule (CD2), mRNA.	261					T cell activation|blood coagulation|cell surface receptor linked signaling pathway|cell-cell adhesion|induction of apoptosis|leukocyte migration|membrane raft polarization|natural killer cell activation|positive regulation of myeloid dendritic cell activation|regulation of T cell differentiation	integral to plasma membrane	receptor activity			NS(1)|breast(2)|large_intestine(3)|liver(1)|lung(8)|skin(2)|stomach(1)	18	Lung SC(450;0.225)	all_cancers(81;3.15e-06)|Acute lymphoblastic leukemia(138;1.7e-08)|all_epithelial(167;8.38e-07)|all_lung(203;3.37e-06)|Lung NSC(69;2.31e-05)		Epithelial(280;6.71e-26)|OV - Ovarian serous cystadenocarcinoma(397;4.74e-24)|all cancers(265;1.93e-22)|Lung(183;0.0543)|Kidney(133;0.0813)|Colorectal(144;0.174)|KIRC - Kidney renal clear cell carcinoma(1967;0.176)|LUSC - Lung squamous cell carcinoma(189;0.189)|BRCA - Breast invasive adenocarcinoma(282;0.201)	Alefacept(DB00092)	CTGAAGAAAGGGGCCGGAAGC	0.512000														25			5		0	0	0.000602214	0	0
GSX2	170825	broad.mit.edu	37	4	54967785	54967785	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr4:54967785G>A	uc010igp.1	+	1	875	c.611G>A	c.(610-612)aGg>aAg	p.R204K	PDGFRA_uc003haa.3_Intron	NM_133267	NP_573574	Q9BZM3	GSX2_HUMAN	Homo sapiens GS homeobox 2 (GSX2), mRNA.	204						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(2)|lung(2)	6	all_cancers(7;0.00671)|Lung NSC(11;0.0154)|all_neural(26;0.0209)|Glioma(25;0.08)|all_epithelial(27;0.147)		LUSC - Lung squamous cell carcinoma(32;0.00216)			AATGGCAAGAGGATGAGGACG	0.587000														41			20		0	0	0.00229938	0	0
ZNF76	7629	broad.mit.edu	37	6	35259167	35259167	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:35259167C>T	uc003oki.1	+	7	943	c.738C>T	c.(736-738)gtC>gtT	p.V246V	ZNF76_uc011dsy.1_Silent_p.V246V|ZNF76_uc011dsz.1_Silent_p.V246V|ZNF76_uc003okj.1_Silent_p.V246V	NM_003427	NP_003418	P36508	ZNF76_HUMAN	Homo sapiens zinc finger protein 76 (ZNF76), mRNA.	246					regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)	16						AGAAGCATGTCCGTACCCACA	0.567000														19			8		0	0	0.000274275	0	0
TEX19	400629	broad.mit.edu	37	17	80320140	80320140	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr17:80320140C>T	uc002keq.3	+	1	424	c.114C>T	c.(112-114)ttC>ttT	p.F38F	TEX19_uc021ufp.1_Silent_p.F38F	NM_207459	NP_997342	Q8NA77	TEX19_HUMAN	Homo sapiens testis expressed 19 (TEX19), mRNA.	38						nucleus				breast(1)|endometrium(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1)	6						TCACCTGCTTCAAGGCTGCCT	0.512000														116			43		0	0	0.00361006	0	0
PPIG	9360	broad.mit.edu	37	2	170460756	170460756	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:170460756C>T	uc002uez.3	+	3	341	c.121C>T	c.(121-123)Cgt>Tgt	p.R41C	PPIG_uc010fpx.3_Missense_Mutation_p.R41C|PPIG_uc010fpy.3_Intron|PPIG_uc002ufa.3_Missense_Mutation_p.R41C|PPIG_uc002ufb.3_Missense_Mutation_p.R41C|PPIG_uc002ufc.1_Missense_Mutation_p.R41C|PPIG_uc002ufd.3_Missense_Mutation_p.R41C	NM_004792	NP_004783	Q13427	PPIG_HUMAN	Homo sapiens peptidylprolyl isomerase G (cyclophilin G) (PPIG), mRNA.	41	PPIase cyclophilin-type.				RNA splicing|protein folding	nuclear matrix|nuclear speck	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43					L-Proline(DB00172)	CGAGAACTTTCGTTGTCTTTG	0.343000														97			41		0	0	0.00361006	0	0
TPTE	7179	broad.mit.edu	37	21	10920116	10920116	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr21:10920116C>T	uc002yip.1	-	18	1506	c.1138G>A	c.(1138-1140)Gaa>Aaa	p.E380K	TPTE_uc002yis.1_Non-coding_Transcript|TPTE_uc002yiq.1_Missense_Mutation_p.E362K|TPTE_uc002yir.1_Missense_Mutation_p.E342K|TPTE_uc010gkv.1_Missense_Mutation_p.E242K	NM_199261	NP_954870	P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA.	380	Phosphatase tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.E380K(1)|p.E362K(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)		TGAAATTTTTCGCTGTGGGTT	0.393000														128			13		0	0	0.00185496	0	0
C19orf21	126353	broad.mit.edu	37	19	757656	757656	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:757656C>T	uc002lpo.3	+	1	793	c.710C>T	c.(709-711)cCc>cTc	p.P237L		NM_173481	NP_775752	Q8IVT2	CS021_HUMAN	Homo sapiens chromosome 19 open reading frame 21 (C19orf21), mRNA.	237										breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000145)|all_lung(49;0.000236)|Breast(49;0.0014)		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)		TTCAACAAGCCCCACCTGGCC	0.682000														4			4		0	0	0.00116845	0	0
SERPINB7	8710	broad.mit.edu	37	18	61449693	61449693	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr18:61449693C>T	uc002ljl.3	+	1	183	c.87C>T	c.(85-87)ttC>ttT	p.F29F	SERPINB7_uc002ljm.3_Silent_p.F29F|SERPINB7_uc010xet.2_Silent_p.F29F|SERPINB7_uc010dqg.3_Silent_p.F29F	NM_001040147	NP_003775	O75635	SPB7_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 7 (SERPINB7), transcript variant 2, mRNA.	29					regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	27		Esophageal squamous(42;0.129)				GAAATGTGTTCTTTTCCTCTC	0.498000														52			19		0	0	0.00188189	0	0
RBM19	9904	broad.mit.edu	37	12	114261086	114261086	+	Silent	SNP	G	A	A	rs140794490		TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:114261086G>A	uc009zwi.2	-	23	2970	c.2826C>T	c.(2824-2826)atC>atT	p.I942I	RBM19_uc001tvn.4_Silent_p.I942I|RBM19_uc001tvm.3_Silent_p.I942I	NM_001146699	NP_057280	Q9Y4C8	RBM19_HUMAN	Homo sapiens RNA binding motif protein 19 (RBM19), transcript variant 1, mRNA.	942					multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	RNA binding|nucleotide binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					GCTGCTCCAGGATCTCGTCCA	0.632000														31			11		0	0	0.000978159	0	0
FAM214B	80256	broad.mit.edu	37	9	35107468	35107468	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr9:35107468G>A	uc003zwl.3	-	2	1129	c.804C>T	c.(802-804)tcC>tcT	p.S268S	FAM214B_uc003zwm.3_Silent_p.S268S|FAM214B_uc003zwn.3_5'UTR|FAM214B_uc003zwo.3_Silent_p.S268S|FAM214B_uc003zwp.1_Silent_p.S268S|FAM214B_uc010mkk.1_Non-coding_Transcript|FAM214B_uc022bgj.1_Silent_p.S268S	NM_025182	NP_079458	Q7L5A3	K1539_HUMAN	Homo sapiens family with sequence similarity 214, member B (FAM214B), mRNA.	268						nucleus											GGTGGCCCAGGGATCCCCGGC	0.637000														42			40		0	0	0.00321405	0	0
RANBP2	5903	broad.mit.edu	37	2	109371668	109371668	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:109371668C>T	uc002tem.4	+	16	2545	c.2419C>T	c.(2419-2421)Cag>Tag	p.Q807*		NM_006267	NP_006258	P49792	RBP2_HUMAN	Homo sapiens RAN binding protein 2 (RANBP2), mRNA.	807					carbohydrate metabolic process|glucose transport|mRNA transport|mitotic prometaphase|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	Ran GTPase binding|peptidyl-prolyl cis-trans isomerase activity|zinc ion binding	p.Q807H(1)	RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						GGCAGAAGATCAGAATTCTTT	0.328000														248			84		0	0	0.00361006	0	0
TP63	8626	broad.mit.edu	37	3	189604206	189604206	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:189604206C>T	uc003fry.2	+	10	1462	c.1373C>T	c.(1372-1374)tCa>tTa	p.S458L	TP63_uc003frz.2_Missense_Mutation_p.S458L|TP63_uc010hzc.1_Missense_Mutation_p.S458L|TP63_uc003fsc.2_Missense_Mutation_p.S364L|TP63_uc003fsd.2_Missense_Mutation_p.S364L|TP63_uc021xir.1_Missense_Mutation_p.S364L|TP63_uc010hzd.1_Missense_Mutation_p.S279L	NM_003722	NP_003713	Q9H3D4	P63_HUMAN	Homo sapiens tumor protein p63 (TP63), transcript variant 1, mRNA.	458					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)		TCTCCATCTTCATATGGTAAC	0.473000										HNSCC(45;0.13)				51			18		0	0	0.00332997	0	0
TBC1D1	23216	broad.mit.edu	37	4	38091654	38091654	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr4:38091654C>T	uc003gtb.3	+	12	2510	c.2152C>T	c.(2152-2154)Cgt>Tgt	p.R718C	TBC1D1_uc011byd.2_Missense_Mutation_p.R812C|TBC1D1_uc010ifd.3_Missense_Mutation_p.R505C|TBC1D1_uc011byf.1_Missense_Mutation_p.R589C	NM_015173	NP_055988	Q86TI0	TBCD1_HUMAN	Homo sapiens TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1 (TBC1D1), transcript variant 1, mRNA.	718						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						AAGGACATCTCGTGAGCTCCG	0.488000														54			35		0	0	0.000953801	0	0
ASTN1	460	broad.mit.edu	37	1	176913084	176913084	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:176913084C>T	uc001glc.3	-	13	2532	c.2320G>A	c.(2320-2322)Gag>Aag	p.E774K	ASTN1_uc001glb.1_Missense_Mutation_p.E774K|ASTN1_uc001gld.1_Missense_Mutation_p.E774K|ASTN1_uc009wwx.1_Missense_Mutation_p.E774K	NM_004319	NP_004310	O14525	ASTN1_HUMAN	Homo sapiens astrotactin 1 (ASTN1), transcript variant 1, mRNA.	782					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						CATTGATTCTCCAGGGGCACA	0.522000														37			13		0	0	0.00185496	0	0
ODF2	4957	broad.mit.edu	37	9	131247670	131247670	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr9:131247670C>T	uc004bvc.3	+	12	1595	c.1509C>T	c.(1507-1509)tcC>tcT	p.S503S	ODF2_uc011maz.2_Silent_p.S439S|ODF2_uc011mbc.2_Silent_p.S358S|ODF2_uc022boj.1_Silent_p.S464S|ODF2_uc004bva.3_Silent_p.S483S|ODF2_uc004bvb.3_Silent_p.S415S|ODF2_uc011mbd.2_Silent_p.S439S|ODF2_uc011mbe.2_Silent_p.S434S|ODF2_uc010myc.3_Silent_p.S382S|ODF2_uc011mbf.2_Silent_p.S420S|ODF2_uc004bvd.4_Silent_p.S439S|ODF2_uc004bve.3_Silent_p.S420S|BC094874_uc004bvg.3_5'Flank	NM_153435	NP_702913	Q5BJF6	ODFP2_HUMAN	Homo sapiens outer dense fiber of sperm tails 2 (ODF2), transcript variant 1, mRNA.	439					G2/M transition of mitotic cell cycle|cell differentiation|multicellular organismal development|spermatogenesis	centriole|cilium|cytosol|microtubule|spindle pole	protein binding|structural molecule activity			autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	37						AAGCTTTATCCACTCTGGAAT	0.507000														21			13		0	0	0.00316338	0	0
PSAT1	29968	broad.mit.edu	37	9	80916931	80916931	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr9:80916931G>A	uc004ala.3	+	2	251	c.183G>A	c.(181-183)cgG>cgA	p.R61R	PSAT1_uc004alb.3_Silent_p.R61R	NM_058179	NP_478059	Q9Y617	SERC_HUMAN	Homo sapiens phosphoserine aminotransferase 1 (PSAT1), transcript variant 1, mRNA.	61					L-serine biosynthetic process|pyridoxine biosynthetic process		O-phospho-L-serine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding	p.R61W(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|urinary_tract(1)	20					L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)	ATCTTGTGCGGGAATTGCTGT	0.318000														45			12		0	0	0.00136819	0	0
CPA6	57094	broad.mit.edu	37	8	68423836	68423836	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr8:68423836G>A	uc003xxq.4	-	3	628	c.372C>T	c.(370-372)acC>acT	p.T124T	CPA6_uc003xxr.4_5'UTR|CPA6_uc003xxs.2_Silent_p.T124T	NM_020361	NP_065094	Q8N4T0	CBPA6_HUMAN	Homo sapiens carboxypeptidase A6 (CPA6), mRNA.	124					proteolysis	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(5)	26			Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136)			GGTTTCTCTGGGTGTGCAAGC	0.378000														184			64		0	0	0.00361006	0	0
SLC2A2	6514	broad.mit.edu	37	3	170716075	170716075	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:170716075G>A	uc003fhe.1	-	9	1590	c.1281C>T	c.(1279-1281)ttC>ttT	p.F427F	SLC2A2_uc003fhf.1_Silent_p.F254F|SLC2A2_uc011bpu.1_Silent_p.F300F	NM_000340	NP_000331	P11168	GTR2_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 2 (SLC2A2), mRNA.	427					carbohydrate metabolic process|cellular lipid metabolic process|endocrine pancreas development|energy reserve metabolic process|regulation of insulin secretion	integral to plasma membrane|membrane fraction	D-glucose transmembrane transporter activity	p.F427S(1)		central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(22;1.41e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14)			GTCCTTGACTGAAAAACTCAG	0.473000														54			19		0	0	0.00152264	0	0
CYCS	54205	broad.mit.edu	37	7	25163633	25163633	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:25163633G>A	uc003sxl.3	-	1	276	c.106C>T	c.(106-108)Ctc>Ttc	p.L36F		NM_018947	NP_061820	P99999	CYC_HUMAN	Homo sapiens cytochrome c, somatic (CYCS), nuclear gene encoding mitochondrial protein, mRNA.	36					DNA fragmentation involved in apoptotic nuclear change|activation of caspase activity by cytochrome c|induction of apoptosis by intracellular signals|respiratory electron transport chain|transport	cytosol|mitochondrial inner membrane|mitochondrial intermembrane space|mitochondrial matrix|nucleus|protein phosphatase type 2A complex|respiratory chain	electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity|heme binding|protein binding			endometrium(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	4					Melatonin(DB01065)|Minocycline(DB01017)	CGCCCAAAGAGACCATGGAGA	0.448000														53			20		0	0	0.000958276	0	0
HIF3A	64344	broad.mit.edu	37	19	46842805	46842805	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:46842805C>T	uc002peh.3	+	14	1967	c.1936C>T	c.(1936-1938)Ccg>Tcg	p.P646S	HIF3A_uc010xxy.2_Missense_Mutation_p.P577S|HIF3A_uc002pel.3_Missense_Mutation_p.P644S	NM_152795	NP_690008	Q9Y2N7	HIF3A_HUMAN	Homo sapiens hypoxia inducible factor 3, alpha subunit (HIF3A), transcript variant 3, mRNA.	646					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		ACTGCTCTCTCCGTACTCAGA	0.552000														69			24		0	0	0.00332997	0	0
OR9A4	130075	broad.mit.edu	37	7	141619260	141619260	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:141619260G>A	uc003vwu.1	+	0	585	c.585G>A	c.(583-585)acG>acA	p.T195T		NM_001001656	NP_001001656	Q8NGU2	OR9A4_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily A, member 4 (OR9A4), mRNA.	195					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2)	22	Melanoma(164;0.0171)					CTCTTTTCACGGAGTTTATCC	0.388000														113			39		0	0	0.00128727	0	0
FBN3	84467	broad.mit.edu	37	19	8136957	8136957	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:8136957C>T	uc002mjf.3	-	61	8080	c.8063G>A	c.(8062-8064)cGa>cAa	p.R2688Q	FBN3_uc002mje.3_Missense_Mutation_p.R484Q	NM_032447	NP_115823	Q75N90	FBN3_HUMAN	Homo sapiens fibrillin 3 (FBN3), mRNA.	2688						proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GGCACTGCGTCGTGGCCGGTC	0.637000														48			23		0	0	0.000720815	0	0
ZNF560	147741	broad.mit.edu	37	19	9579814	9579814	+	Silent	SNP	A	G	G			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:9579814A>G	uc002mlp.1	-	8	789	c.579T>C	c.(577-579)aaT>aaC	p.N193N	ZNF560_uc010dwr.1_Silent_p.N87N	NM_152476	NP_689689	Q96MR9	ZN560_HUMAN	Homo sapiens zinc finger protein 560 (ZNF560), mRNA.	193					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						TTAAACAAAAATTATCTTGCC	0.313000														17			9		0	0	0.00136819	0	0
SLC26A5	375611	broad.mit.edu	37	7	103061940	103061940	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:103061940C>T	uc003vbz.3	-	2	284	c.22G>A	c.(22-24)Gaa>Aaa	p.E8K	SLC26A5_uc003vbt.2_Missense_Mutation_p.E8K|SLC26A5_uc003vbu.2_Missense_Mutation_p.E8K|SLC26A5_uc003vbv.2_Missense_Mutation_p.E8K|SLC26A5_uc003vbw.3_Non-coding_Transcript|SLC26A5_uc003vby.3_Non-coding_Transcript|SLC26A5_uc010liy.3_Non-coding_Transcript|SLC26A5_uc003vbx.3_Missense_Mutation_p.E8K	NM_198999	NP_945350	P58743	S26A5_HUMAN	Homo sapiens solute carrier family 26, member 5 (prestin) (SLC26A5), transcript variant a, mRNA.	8					regulation of cell shape|sensory perception of sound	integral to membrane	secondary active sulfate transmembrane transporter activity			endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						GCAAGGATTTCATTTTCTTCA	0.428000														39			15		0	0	0.000958276	0	0
CDK18	5129	broad.mit.edu	37	1	205497015	205497015	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:205497015G>A	uc001hcr.3	+	8	1175	c.913G>A	c.(913-915)Gag>Aag	p.E305K	CDK18_uc001hcp.3_Missense_Mutation_p.E275K|CDK18_uc001hcq.3_Missense_Mutation_p.E275K|CDK18_uc010prj.2_Missense_Mutation_p.E186K|CDK18_uc001hcs.3_Missense_Mutation_p.E186K|CDK18_uc009xbm.1_Missense_Mutation_p.E200K	NM_212503	NP_997668	Q07002	CDK18_HUMAN	Homo sapiens cyclin-dependent kinase 18 (CDK18), transcript variant 1, mRNA.	273	Protein kinase.						ATP binding|cyclin-dependent protein kinase activity|protein binding|signal transducer activity			breast(2)|endometrium(2)|large_intestine(2)|lung(10)|stomach(2)|urinary_tract(1)	19						GCTCATCAACGAGAGGGGGGA	0.647000														45			17		0	0	0.00188189	0	0
BPTF	2186	broad.mit.edu	37	17	65871115	65871116	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr17:65871115_65871116CC>AA	uc002jgf.3	+	3	1904_1905	c.1843_1844CC>AA	c.(1843-1845)cct>AAt	p.P615N	BPTF_uc002jge.3_Missense_Mutation_p.P615N|BPTF_uc010wqm.1_Missense_Mutation_p.P615N	NM_182641	NP_872579	Q12830	BPTF_HUMAN	Homo sapiens bromodomain PHD finger transcription factor (BPTF), transcript variant 1, mRNA.	730					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex|cytoplasm	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			AGATGATGACCCTGAGCAAGGA	0.337000														138			7		0	0	6.4e-05	0	0
COL6A6	131873	broad.mit.edu	37	3	130282394	130282394	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:130282394C>T	uc010htl.3	+	1	578	c.547C>T	c.(547-549)Cat>Tat	p.H183Y		NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	Homo sapiens collagen, type VI, alpha 6 (COL6A6), mRNA.	183	Nonhelical region.|VWFA 1.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						GTCTCAGTTTCATTTCAACCT	0.473000														55			24		0	0	0.00278032	0	0
SCN4A	6329	broad.mit.edu	37	17	62019223	62019223	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr17:62019223G>A	uc002jds.1	-	23	4496	c.4419C>T	c.(4417-4419)ttC>ttT	p.F1473F		NM_000334	NP_000325	P35499	SCN4A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IV, alpha subunit (SCN4A), mRNA.	1473			F -> S (in PMC; accelerates deactivation from the inactivated state and enhances the remobilization of gating charge).		muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.F1473F(2)		breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	TCATGAGGGCGAACAGCAGCG	0.612000														28			27		0	0	0.00127121	0	0
KIAA1683	80726	broad.mit.edu	37	19	18368548	18368549	+	Missense_Mutation	DNP	GT	AG	AG			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:18368548_18368549GT>AG	uc010ebn.2	-	3	3761_3762	c.3545_3546AC>CT	c.(3544-3546)cac>cCT	p.H1182P	PDE4C_uc002nil.4_5'Flank|PDE4C_uc021uql.1_5'Flank|KIAA1683_uc002nin.2_Missense_Mutation_p.H995P|KIAA1683_uc010xqe.1_Missense_Mutation_p.H949P|KIAA1683_uc010xqf.1_Non-coding_Transcript	NM_001145304	NP_001138776	Q9H0B3	K1683_HUMAN	Homo sapiens KIAA1683 (KIAA1683), transcript variant 1, mRNA.	0						mitochondrion				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						GCATCTGCCAGTGCCGGGCTTG	0.678000														20			7		0	0	6.4e-05	0	0
XRN2	22803	broad.mit.edu	37	20	21328863	21328863	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr20:21328863C>T	uc002wsf.1	+	17	1840	c.1745C>T	c.(1744-1746)cCa>cTa	p.P582L	XRN2_uc002wsg.1_Missense_Mutation_p.P506L|XRN2_uc010zsk.1_Missense_Mutation_p.P528L	NM_012255	NP_036387	Q9H0D6	XRN2_HUMAN	Homo sapiens 5'-3' exoribonuclease 2 (XRN2), mRNA.	582				P -> S (in Ref. 1; AAQ13577).	DNA catabolic process, exonucleolytic|RNA catabolic process|cell growth|mRNA processing|regulation of transcription, DNA-dependent|spermatogenesis|transcription termination, DNA-dependent	nucleolus	5'-3' exoribonuclease activity|nucleic acid binding|protein binding|zinc ion binding			endometrium(5)|kidney(6)|large_intestine(10)|lung(12)|ovary(1)|skin(5)	39						GCAGACATGCCATCTGATTTT	0.348000														63			32		0	0	0.00283554	0	0
SERPINB7	8710	broad.mit.edu	37	18	61471570	61471570	+	Nonsense_Mutation	SNP	G	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr18:61471570G>T	uc002ljl.3	+	7	940	c.844G>T	c.(844-846)Gag>Tag	p.E282*	SERPINB7_uc002ljm.3_Nonsense_Mutation_p.E282*|SERPINB7_uc010xet.2_Nonsense_Mutation_p.E265*|SERPINB7_uc010dqg.3_Nonsense_Mutation_p.E282*	NM_001040147	NP_003775	O75635	SPB7_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 7 (SERPINB7), transcript variant 2, mRNA.	282					regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	27		Esophageal squamous(42;0.129)				GTTCAAGATAGAGAAGAATTA	0.398000														37			11		0.000673444	0.00210748	0.000673444	1	0
OR2J2	26707	broad.mit.edu	37	6	29141693	29141693	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:29141693C>T	uc011dlm.2	+	0	383	c.281C>T	c.(280-282)tCg>tTg	p.S94L		NM_030905	NP_112167	O76002	OR2J2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily J, member 2 (OR2J2), mRNA.	94					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S94*(2)		endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1)	25						AAGACCATCTCGTATGCTGGT	0.473000														122			40		0	0	0.00128727	0	0
ZCCHC9	84240	broad.mit.edu	37	5	80604836	80604836	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:80604836C>T	uc003khk.4	+	3	1097	c.607C>T	c.(607-609)Ccc>Tcc	p.P203S	RNU5E-1_uc011cto.1_Intron|ZCCHC9_uc003khi.3_Missense_Mutation_p.P203S|ZCCHC9_uc003khj.3_Missense_Mutation_p.P203S	NM_032280	NP_115656	Q8N567	ZCHC9_HUMAN	Homo sapiens zinc finger, CCHC domain containing 9 (ZCCHC9), transcript variant 1, mRNA.	203							nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)	13		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;8.18e-45)|Epithelial(54;2.72e-39)|all cancers(79;7.33e-34)		TCCTGATAATCCCAAAGGACT	0.388000														39			15		0	0	0.000566183	0	0
YWHAG	7532	broad.mit.edu	37	7	75959023	75959023	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:75959023G>A	uc011kgj.1	-	1	832	c.615C>T	c.(613-615)atC>atT	p.I205I		NM_012479	NP_036611	P61981	1433G_HUMAN	Homo sapiens tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma polypeptide (YWHAG), mRNA.	205					G2/M transition of mitotic cell cycle|regulation of neuron differentiation|regulation of signal transduction|regulation of synaptic plasticity	cytosol	insulin-like growth factor receptor binding|protein kinase C binding|protein kinase C inhibitor activity			endometrium(2)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)	8						CAAGCTCGGCGATGGCGTCGT	0.592000														47			28		0	0	0.00127121	0	0
FAM193B	54540	broad.mit.edu	37	5	176951899	176951899	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:176951899G>A	uc003mhu.3	-	5	1672	c.1583C>T	c.(1582-1584)cCt>cTt	p.P528L	FAM193B_uc003mhr.3_Missense_Mutation_p.P32L|FAM193B_uc021yiw.1_Missense_Mutation_p.P154L|FAM193B_uc003mht.3_Missense_Mutation_p.P154L|FAM193B_uc003mhv.3_Missense_Mutation_p.P154L|FAM193B_uc003mhw.3_Non-coding_Transcript	NM_001190946	NP_001177875	Q6IPW0	Q6IPW0_HUMAN	Homo sapiens family with sequence similarity 193, member B (FAM193B), transcript variant 3, mRNA.	204										kidney(1)|large_intestine(3)	4						GTTGATGTCAGGCTGCTGCTC	0.582000														7			4		0	0	0.00024832	0	0
CASP14	23581	broad.mit.edu	37	19	15166855	15166855	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:15166855C>T	uc010dzv.2	+	6	896	c.684C>T	c.(682-684)aaC>aaT	p.N228N		NM_012114	NP_036246	P31944	CASPE_HUMAN	Homo sapiens caspase 14, apoptosis-related cysteine peptidase (CASP14), mRNA.	228					apoptosis|cell differentiation|epidermis development|proteolysis	cytoplasm|nucleus	cysteine-type endopeptidase activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(3)	26						GGAAAACGAACCCTGAAATCC	0.512000														6			3		0	0	0.000602214	0	0
MYL3	4634	broad.mit.edu	37	3	46904857	46904857	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:46904857G>A	uc003cql.1	-	0	117	c.24C>T	c.(22-24)ccC>ccT	p.P8P		NM_000258	NP_000249	P08590	MYL3_HUMAN	Homo sapiens myosin, light chain 3, alkali; ventricular, skeletal, slow (MYL3), mRNA.	8					cardiac muscle contraction|muscle filament sliding|positive regulation of ATPase activity|regulation of striated muscle contraction|regulation of the force of heart contraction|ventricular cardiac muscle tissue morphogenesis	A band|I band|cytosol|muscle myosin complex	actin monomer binding|calcium ion binding|myosin II heavy chain binding|structural constituent of muscle			breast(1)|lung(2)	3				BRCA - Breast invasive adenocarcinoma(193;0.00116)|KIRC - Kidney renal clear cell carcinoma(197;0.00557)|Kidney(197;0.0063)		CATCCTTCTTGGGCTCTGGCT	0.602000														12			8		0	0	0.00307968	0	0
LMO3	55885	broad.mit.edu	37	12	16713469	16713469	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:16713469G>A	uc010shz.2	-	4	501	c.276C>T	c.(274-276)ctC>ctT	p.L92L	LMO3_uc001rdj.2_Silent_p.L81L|LMO3_uc010shy.2_Silent_p.L88L|LMO3_uc001rdk.2_Silent_p.L70L|LMO3_uc001rdl.2_Silent_p.L70L|LMO3_uc009zii.2_Non-coding_Transcript|LMO3_uc001rdn.2_Silent_p.L70L|LMO3_uc001rdm.2_Silent_p.L70L|LMO3_uc009zij.2_Non-coding_Transcript|LMO3_uc001rdo.2_Non-coding_Transcript|LMO3_uc001rdp.2_Non-coding_Transcript|LMO3_uc009zik.2_Non-coding_Transcript	NM_001243613	NP_001230542	Q8TAP4	LMO3_HUMAN	Homo sapiens LIM domain only 3 (rhombotin-like 2) (LMO3), transcript variant 7, mRNA.	70	LIM zinc-binding 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent		zinc ion binding			endometrium(2)|large_intestine(2)|skin(1)	5		Hepatocellular(102;0.244)				TTACACCAAAGAGCCTAGAAT	0.403000														28			20		0	0	0.00121646	0	0
ABCG1	9619	broad.mit.edu	37	21	43710228	43710228	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr21:43710228G>A	uc011aev.2	+	10	1436	c.1362G>A	c.(1360-1362)ggG>ggA	p.G454G	ABCG1_uc002zam.3_Silent_p.G409G|ABCG1_uc002zan.3_Silent_p.G433G|ABCG1_uc002zao.3_Silent_p.G428G|ABCG1_uc002zap.3_Silent_p.G431G|ABCG1_uc002zaq.3_Silent_p.G443G|ABCG1_uc002zar.3_Silent_p.G442G|ABCG1_uc010gpb.2_Missense_Mutation_p.D84N	NM_004915	NP_004906	P45844	ABCG1_HUMAN	Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 1 (ABCG1), transcript variant 4, mRNA.	443	ABC transmembrane type-2.				amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport	Golgi membrane|endoplasmic reticulum membrane|external side of plasma membrane|recycling endosome	ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1)	29					Adenosine triphosphate(DB00171)	TGTACTTGGGGATCGGGAACG	0.572000														63			27		0	0	0.00127121	0	0
IL17F	112744	broad.mit.edu	37	6	52103575	52103575	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:52103575G>A	uc003pam.1	-	1	278	c.207C>T	c.(205-207)tcC>tcT	p.S69S	IL17F_uc003pal.1_Silent_p.S15S	NM_052872	NP_443104	Q96PD4	IL17F_HUMAN	Homo sapiens interleukin 17F (IL17F), mRNA.	69					cartilage development|inflammatory response|lymphotoxin A biosynthetic process|negative regulation of angiogenesis|proteoglycan metabolic process|regulation of granulocyte macrophage colony-stimulating factor biosynthetic process|regulation of interleukin-2 biosynthetic process|regulation of interleukin-6 biosynthetic process|regulation of interleukin-8 biosynthetic process|regulation of transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|cytokine binding|protein homodimerization activity	p.M70L(1)		NS(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)	14	Lung NSC(77;0.116)					TACGTGACATGGAAACGCGCT	0.443000														27			15		0	0	0.00244969	0	0
ZCCHC14	23174	broad.mit.edu	37	16	87445337	87445337	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr16:87445337G>A	uc002fjz.1	-	11	2606	c.2579C>T	c.(2578-2580)cCa>cTa	p.P860L	ZCCHC14_uc002fka.1_Non-coding_Transcript|ZCCHC14_uc002fkb.3_Missense_Mutation_p.P636L	NM_015144	NP_055959	Q8WYQ9	ZCH14_HUMAN	Homo sapiens zinc finger, CCHC domain containing 14 (ZCCHC14), mRNA.	860					cell communication		nucleic acid binding|phosphatidylinositol binding|zinc ion binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36				BRCA - Breast invasive adenocarcinoma(80;0.0285)		GACAGGGTCTGGGGTCCCGCT	0.657000														10			7		0	0	0.00307968	0	0
KANK3	256949	broad.mit.edu	37	19	8399516	8399516	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:8399516C>T	uc010dwa.3	-	2	1261	c.1195G>A	c.(1195-1197)Gag>Aag	p.E399K	KANK3_uc002mjp.1_5'Flank	NM_198471	NP_940873	Q6NY19	KANK3_HUMAN	Homo sapiens KN motif and ankyrin repeat domains 3 (KANK3), mRNA.	399										breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	9						GTGGTGGCCTCGCGTAGCTGG	0.741000														4			3		0	0	6.4e-05	0	0
MCM10	55388	broad.mit.edu	37	10	13214665	13214665	+	Silent	SNP	T	G	G			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr10:13214665T>G	uc001ima.3	+	4	623	c.495T>G	c.(493-495)gtT>gtG	p.V165V	MCM10_uc001imb.3_Silent_p.V164V|MCM10_uc001imc.3_Silent_p.V164V	NM_182751	NP_877428	Q7L590	MCM10_HUMAN	Homo sapiens minichromosome maintenance complex component 10 (MCM10), transcript variant 1, mRNA.	165					DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|cell cycle checkpoint	nucleoplasm	metal ion binding|protein binding			central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1)	9						AGAGGAGAGTTCAGAGAATTC	0.473000														54			12		0	0	0.00185496	0	0
UPF2	26019	broad.mit.edu	37	10	12041922	12041922	+	Silent	SNP	G	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr10:12041922G>T	uc001ila.3	-	5	2215	c.1741C>A	c.(1741-1743)Cga>Aga	p.R581R	UPF2_uc001ilb.3_Silent_p.R581R|UPF2_uc001ilc.3_Silent_p.R581R|UPF2_uc009xiz.2_Silent_p.R581R	NM_080599	NP_542166	Q9HAU5	RENT2_HUMAN	Homo sapiens UPF2 regulator of nonsense transcripts homolog (yeast) (UPF2), transcript variant 1, mRNA.	581	MIF4G 2.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	exon-exon junction complex|perinuclear region of cytoplasm	RNA binding|identical protein binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				ATCAGATCTCGGTTGACACAG	0.403000														488			12		0.00244969	0.00762403	0.00244969	1	0
TXK	7294	broad.mit.edu	37	4	48114430	48114430	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr4:48114430C>T	uc003gxx.4	-	3	360	c.274G>A	c.(274-276)Gat>Aat	p.D92N	TXK_uc003gxy.1_Missense_Mutation_p.D92N	NM_003328	NP_003319	P42681	TXK_HUMAN	Homo sapiens TXK tyrosine kinase (TXK), mRNA.	92	SH3.					cytoplasm	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(2)	25						GGCAGAAAATCATAAAGTGCC	0.507000														70			36		0	0	0.00111076	0	0
ORAI1	84876	broad.mit.edu	37	12	122079438	122079438	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:122079438G>A	uc021rff.1	+	1	994	c.801G>A	c.(799-801)aaG>aaA	p.K267K		NM_032790	NP_116179	Q96D31	CRCM1_HUMAN	Homo sapiens ORAI calcium release-activated calcium modulator 1 (ORAI1), mRNA.	265					platelet activation|positive regulation of calcium ion transport	integral to plasma membrane	protein binding|store-operated calcium channel activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	11	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000415)|Epithelial(86;0.00148)		TTAGCCATAAGACTGACCGAC	0.622000														62			19		0	0	0.00152264	0	0
RYR1	6261	broad.mit.edu	37	19	39017657	39017657	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:39017657G>A	uc002oit.3	+	71	10781	c.10651G>A	c.(10651-10653)Gaa>Aaa	p.E3551K	RYR1_uc002oiu.3_Missense_Mutation_p.E3546K|RYR1_uc002oiv.1_Missense_Mutation_p.E466K|RYR1_uc010xuf.1_Missense_Mutation_p.E471K	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	3551					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GGAGGTCCGGGAATTTCTGCA	0.512000														32			10		0	0	0.00400662	0	0
PPP1R2P3	153743	broad.mit.edu	37	5	156278058	156278058	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:156278058C>T	uc003lwf.1	+	0	510	c.485C>T	c.(484-486)tCa>tTa	p.S162L						Homo sapiens protein phosphatase 1, regulatory (inhibitor) subunit 2 pseudogene 3 (PPP1R2P3), non-coding RNA.																		CAATTAATTTCAAAAGACCTA	0.368000														73			35		0	0	0.00428921	0	0
LPHN2	23266	broad.mit.edu	37	1	82456779	82456779	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:82456779C>T	uc001dit.4	+	20	4343	c.4162C>T	c.(4162-4164)Cca>Tca	p.P1388S	LPHN2_uc001dis.3_Missense_Mutation_p.P368S|LPHN2_uc001diu.3_Missense_Mutation_p.P1388S|LPHN2_uc001div.3_3'UTR|LPHN2_uc009wcd.3_3'UTR|LPHN2_uc001diw.3_Missense_Mutation_p.P1015S	NM_012302	NP_036434	O95490	LPHN2_HUMAN	Homo sapiens latrophilin 2 (LPHN2), mRNA.	1444					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding	p.P1388P(1)		NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		agggtgtattccagAAGGAGA	0.418000														29			12		0	0	0.00136819	0	0
DSG4	147409	broad.mit.edu	37	18	28991307	28991307	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr18:28991307G>A	uc002kwr.2	+	13	2443	c.2308G>A	c.(2308-2310)Gga>Aga	p.G770R	DSG4_uc002kwq.2_Missense_Mutation_p.G751R	NM_001134453	NP_001127925	Q86SJ6	DSG4_HUMAN	Homo sapiens desmoglein 4 (DSG4), transcript variant 1, mRNA.	751					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			aggggccgcaggagcctcagg	0.622000														32			20		0	0	0.00188189	0	0
MDGA1	266727	broad.mit.edu	37	6	37619992	37619992	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:37619992G>A	uc003onu.1	-	6	2286	c.1107C>T	c.(1105-1107)taC>taT	p.Y369Y	MDGA1_uc003onw.3_Non-coding_Transcript	NM_153487	NP_705691	Q8NFP4	MDGA1_HUMAN	Homo sapiens MAM domain containing glycosylphosphatidylinositol anchor 1 (MDGA1), mRNA.	369	Ig-like 4.				brain development|neuron migration|spinal cord association neuron differentiation	anchored to plasma membrane				central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	38						TGAACCACTGGTAGGTCACCT	0.587000														80			23		0	0	0.00106085	0	0
STXBP5L	9515	broad.mit.edu	37	3	120941851	120941851	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:120941851G>A	uc003eec.4	+	11	1097	c.957_splice	c.e11-1	p.S319_splice	STXBP5L_uc011bji.2_Splice_Site_p.S319_splice	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN	Homo sapiens syntaxin binding protein 5-like (STXBP5L), mRNA.	319					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		CCTATGTAGCGAACCATTCAT	0.368000														73			27		0	0	0.00178596	0	0
MYBL2	4605	broad.mit.edu	37	20	42328486	42328486	+	Silent	SNP	G	A	A	rs144342758		TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr20:42328486G>A	uc002xlb.1	+	6	968	c.753G>A	c.(751-753)tcG>tcA	p.S251S	MYBL2_uc010zwj.1_Silent_p.S227S	NM_002466	NP_002457	P10244	MYBB_HUMAN	Homo sapiens v-myb myeloblastosis viral oncogene homolog (avian)-like 2 (MYBL2), mRNA.	251						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.S251L(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	46		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			CCACCACATCGAAGGAACAGG	0.572000														11			7		0	0	0.00307968	0	0
CDKL1	8814	broad.mit.edu	37	14	50844945	50844945	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr14:50844945G>A	uc010anu.2	-	8	1304	c.1304C>T	c.(1303-1305)cCc>cTc	p.P435L	CDKL1_uc001wxz.3_Intron	NM_004196	NP_004187	Q00532	CDKL1_HUMAN	Homo sapiens cyclin-dependent kinase-like 1 (CDC2-related kinase) (CDKL1), mRNA.	0						cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity			endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|stomach(1)	12	all_epithelial(31;0.000746)|Breast(41;0.0102)					cttaggagggggatgcctgtc	0.502000														18			14		0	0	0.00316338	0	0
NEB	4703	broad.mit.edu	37	2	152512943	152512943	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:152512943C>T	uc021vrb.1	-	46	6248	c.6219G>A	c.(6217-6219)ggG>ggA	p.G2073G	NEB_uc002txu.3_Silent_p.G2073G|NEB_uc021vrc.1_Silent_p.G2073G|NEB_uc010fnx.3_Silent_p.G2073G|NEB_uc021vrd.1_Silent_p.G2073G	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	2073					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CAACCATTTTCCCCTTCCCTT	0.373000														85			25		0	0	0.00127121	0	0
LILRB4	11006	broad.mit.edu	37	19	55175926	55175926	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:55175926C>T	uc002qgp.3	+	3	1007	c.645C>T	c.(643-645)ctC>ctT	p.L215L	LILRB4_uc002qgq.3_Silent_p.L215L|LILRB4_uc010ers.1_Silent_p.L128L|LILRB4_uc010ert.3_Silent_p.L256L|LILRB4_uc010eru.3_Silent_p.L244L	NM_006847	NP_006838	Q8NHJ6	LIRB4_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4 (LILRB4), transcript variant 1, mRNA.	215	Ig-like C2-type 2.					integral to membrane|plasma membrane	antigen binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		CCCTGGAGCTCATAGTCTCAG	0.622000														33			10		0	0	0.000673444	0	0
IFT140	9742	broad.mit.edu	37	16	1573895	1573895	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr16:1573895G>A	uc002cmb.3	-	24	3566	c.3204C>T	c.(3202-3204)atC>atT	p.I1068I	IFT140_uc002clz.3_Silent_p.I681I	NM_014714	NP_055529	Q96RY7	IF140_HUMAN	Homo sapiens intraflagellar transport 140 homolog (Chlamydomonas) (IFT140), mRNA.	1068										breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				GGGCCGCCTCGATCATGTCCT	0.667000														26			11		0	0	0.00185496	0	0
PPARGC1A	10891	broad.mit.edu	37	4	23814447	23814447	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr4:23814447C>T	uc003gqs.3	-	9	2062	c.1942G>A	c.(1942-1944)Gaa>Aaa	p.E648K	PPARGC1A_uc003gqt.3_Non-coding_Transcript	NM_013261	NP_037393	Q9UBK2	PRGC1_HUMAN	Homo sapiens peroxisome proliferator-activated receptor gamma, coactivator 1 alpha (PPARGC1A), mRNA.	648					RNA splicing|androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mRNA processing|mitochondrion organization|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	DNA binding|RNA binding|RNA polymerase II transcription cofactor activity|androgen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|transcription factor binding	p.E648D(1)		central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				CGATATTCTTCCCTCTTCAGC	0.468000														103			55		0	0	0.00361006	0	0
GCNT4	51301	broad.mit.edu	37	5	74324903	74324903	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:74324903G>A	uc003kdn.3	-	0	1822	c.960C>T	c.(958-960)atC>atT	p.I320I		NM_016591	NP_057675	Q9P109	GCNT4_HUMAN	Homo sapiens glucosaminyl (N-acetyl) transferase 4, core 2 (GCNT4), mRNA.	320					protein O-linked glycosylation	Golgi membrane|integral to membrane	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity|beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|skin(1)|stomach(2)	19		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;8.44e-57)		AGTCTTGAACGATGGAGTTGT	0.408000														30			18		0	0	0.00229938	0	0
STXBP5L	9515	broad.mit.edu	37	3	120924828	120924828	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:120924828A>T	uc003eec.4	+	9	1076	c.936A>T	c.(934-936)gaA>gaT	p.E312D	STXBP5L_uc011bji.2_Missense_Mutation_p.E312D	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN	Homo sapiens syntaxin binding protein 5-like (STXBP5L), mRNA.	312					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		TTAAAGTAGAATACAAGACCT	0.279000														44			27		0	0	0.00209593	0	0
MYOCD	93649	broad.mit.edu	37	17	12639612	12639612	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr17:12639612G>A	uc002gno.2	+	5	849	c.550G>A	c.(550-552)Gcc>Acc	p.A184T	MYOCD_uc002gnn.2_Missense_Mutation_p.A184T|MYOCD_uc002gnp.1_Missense_Mutation_p.A88T	NM_001146312	NP_001139784	Q8IZQ8	MYCD_HUMAN	Homo sapiens myocardin (MYOCD), transcript variant 1, mRNA.	184	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			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)		AGACGCTAAAGCCTCAGATAC	0.473000														50			27		0	0	0.000720815	0	0
POLQ	10721	broad.mit.edu	37	3	121251894	121251894	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:121251894G>A	uc003eee.4	-	5	1032	c.903C>T	c.(901-903)tcC>tcT	p.S301S		NM_199420	NP_955452	O75417	DPOLQ_HUMAN	Homo sapiens polymerase (DNA directed), theta (POLQ), mRNA.	301					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA-directed DNA polymerase activity|damaged DNA binding|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		AGTCATATATGGAATTTCCAA	0.393000								DNA polymerases (catalytic subunits)						46			19		0	0	0.00121646	0	0
EPHA7	2045	broad.mit.edu	37	6	94066711	94066711	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:94066711C>T	uc003poe.3	-	4	1289	c.1048G>A	c.(1048-1050)Gaa>Aaa	p.E350K	EPHA7_uc003pof.3_Missense_Mutation_p.E350K|EPHA7_uc011eac.2_Missense_Mutation_p.E350K	NM_004440	NP_004431	Q15375	EPHA7_HUMAN	Homo sapiens EPH receptor A7 (EPHA7), mRNA.	350	Fibronectin type-III 1.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		GGACTCCATTCCAAACTTACT	0.453000														54			23		0	0	0.000720815	0	0
PSG4	5672	broad.mit.edu	37	19	43699191	43699191	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:43699191C>T	uc002ovy.3	-	3	1046	c.944G>A	c.(943-945)cGa>cAa	p.R315Q	PSG4_uc010xwk.1_Intron|PSG4_uc002ovz.3_Intron|PSG4_uc002owb.3_Missense_Mutation_p.R222Q	NM_002780	NP_002771	Q00888	PSG4_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 4 (PSG4), transcript variant 1, mRNA.	315	Ig-like C2-type 2.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				GCCACCATATCGGTCCCGTAT	0.488000														119			58		0	0	0.00361006	0	0
UBE4A	9354	broad.mit.edu	37	11	118252157	118252157	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:118252157C>T	uc001psw.3	+	11	2063	c.1928C>T	c.(1927-1929)gCc>gTc	p.A643V	UBE4A_uc001psv.3_Missense_Mutation_p.A650V	NM_001204077	NP_001191006	Q14139	UBE4A_HUMAN	Homo sapiens ubiquitination factor E4A (UBE4A), transcript variant 2, mRNA.	643					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding			autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(7)|liver(2)|lung(14)|ovary(3)|prostate(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	56	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		CGCCGCTTTGCCGATGACATT	0.398000														50			45		0	0	0.00361006	0	0
SLC9A2	6549	broad.mit.edu	37	2	103317550	103317550	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:103317550A>T	uc002tca.3	+	7	1750	c.1608A>T	c.(1606-1608)aaA>aaT	p.K536N		NM_003048	NP_003039	Q9UBY0	SL9A2_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 2 (SLC9A2), mRNA.	536						integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						TTGATGATAAATATCTGCGGA	0.294000														36			17		0	0	0.00074312	0	0
KLHL30	377007	broad.mit.edu	37	2	239049908	239049908	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:239049908C>T	uc002vxr.2	+	1	620	c.513C>T	c.(511-513)ttC>ttT	p.F171F		NM_198582	NP_940984	Q0D2K2	KLH30_HUMAN	Homo sapiens kelch-like 30 (Drosophila) (KLHL30), mRNA.	171	BACK.									lung(4)	4		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		AGGACGAGTTCCTGCAGCTTC	0.657000														13			4		0	0	0.00024832	0	0
WNT8A	7478	broad.mit.edu	37	5	137419860	137419860	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:137419860C>T	uc011cyk.1	+	0	280	c.44C>T	c.(43-45)cCa>cTa	p.P15L	WNT8A_uc011cyj.1_Missense_Mutation_p.P15L|WNT8A_uc003lcd.1_Intron			Q9H1J5	WNT8A_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 8A (WNT8A), mRNA.	0					Wnt receptor signaling pathway, calcium modulating pathway|brain segmentation|canonical Wnt receptor signaling pathway involved in neural crest cell differentiation|cell migration involved in gastrulation|dorsal/ventral pattern formation|ectoderm development|endoderm development|eye development|hindbrain development|mesodermal cell fate commitment|negative regulation of Wnt receptor signaling pathway|neural crest cell fate commitment|neural plate pattern specification|notochord development|palate development|polarity specification of anterior/posterior axis|polarity specification of proximal/distal axis|positive regulation of fibroblast growth factor receptor signaling pathway|regulation of transcription involved in anterior/posterior axis specification|response to retinoic acid|somitogenesis|spinal cord anterior/posterior patterning|tail morphogenesis	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled binding|signal transducer activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(2)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			AGTCCTTTCCCAACCCTCACT	0.532000														39			16		0	0	0.00400662	0	0
IL12A	3592	broad.mit.edu	37	3	159713239	159713239	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:159713239G>A	uc003fcx.3	+	6	876	c.655G>A	c.(655-657)Gaa>Aaa	p.E219K	AK097161_uc003fcw.1_Intron	NM_000882	NP_000873	P29459	IL12A_HUMAN	Homo sapiens interleukin 12A (natural killer cell stimulatory factor 1, cytotoxic lymphocyte maturation factor 1, p35) (IL12A), mRNA.	185					cell cycle arrest|cell migration|defense response to Gram-positive bacterium|immune response|negative regulation of interleukin-17 production|negative regulation of smooth muscle cell proliferation|positive regulation of NK T cell activation|positive regulation of T cell mediated cytotoxicity|positive regulation of cell adhesion|positive regulation of interferon-gamma production|positive regulation of natural killer cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|positive regulation of smooth muscle cell apoptosis|positive regulation of tyrosine phosphorylation of Stat4 protein|response to UV-B|response to lipopolysaccharide|response to virus	interleukin-12 complex	cytokine activity|growth factor activity|interleukin-12 receptor binding|interleukin-27 binding|protein heterodimerization activity			endometrium(3)|kidney(1)|large_intestine(1)|lung(4)	9			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			CTCCCTTGAAGAACCGGATTT	0.383000														50			29		0	0	0.00127121	0	0
ARPP21	10777	broad.mit.edu	37	3	35732458	35732458	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:35732458G>A	uc011axy.2	+	7	859	c.647G>A	c.(646-648)gGa>gAa	p.G216E	ARPP21_uc003cga.3_Missense_Mutation_p.G216E|ARPP21_uc003cgb.3_Missense_Mutation_p.G216E|ARPP21_uc003cgf.3_Missense_Mutation_p.G52E	NM_016300	NP_057384	Q9UBL0	ARP21_HUMAN	Homo sapiens cAMP-regulated phosphoprotein, 21kDa (ARPP21), transcript variant 1, mRNA.	216	R3H.					cytoplasm	nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						GATCAAACAGGAAAATCTGTT	0.378000														49			39		0	0	0.00195071	0	0
HIVEP2	3097	broad.mit.edu	37	6	143090817	143090817	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:143090817T>G	uc003qjd.3	-	4	5802	c.5059A>C	c.(5059-5061)Acc>Ccc	p.T1687P		NM_006734	NP_006725	P31629	ZEP2_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 2 (HIVEP2), mRNA.	1687					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		GTGGTCTTGGTGTTCAATCCT	0.448000														65			24		0	0	0.00106085	0	0
DNAH17	8632	broad.mit.edu	37	17	76490830	76490830	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr17:76490830G>A	uc010dhp.2	-	39	6240	c.6115C>T	c.(6115-6117)Ccc>Tcc	p.P2039S	AK127460_uc002jvt.1_5'Flank	NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GCCCGGCTGGGGTCGCCCCTC	0.627000														19			19		0	0	0.000958276	0	0
FRAS1	80144	broad.mit.edu	37	4	79360134	79360134	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr4:79360134C>T	uc003hlb.2	+	39	5885	c.5445C>T	c.(5443-5445)aaC>aaT	p.N1815N	FRAS1_uc003hkw.3_Silent_p.N1815N|FRAS1_uc010ijj.2_Silent_p.N235N	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	1814					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						TGGACCACAACCATCTGGATA	0.383000														129			54		0	0	0.00361006	0	0
PLEC	5339	broad.mit.edu	37	8	144998577	144998577	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr8:144998577G>A	uc003zaf.1	-	30	6101	c.5931C>T	c.(5929-5931)gcC>gcT	p.A1977A	PLEC_uc003zab.1_Silent_p.A1840A|PLEC_uc003zac.1_Silent_p.A1844A|PLEC_uc003zad.2_Silent_p.A1840A|PLEC_uc003zae.1_Silent_p.A1808A|PLEC_uc003zag.1_Silent_p.A1818A|PLEC_uc003zah.2_Silent_p.A1826A|PLEC_uc003zaj.2_Silent_p.A1867A	NM_201380	NP_958782	Q15149	PLEC_HUMAN	Homo sapiens plectin (PLEC), transcript variant 6, mRNA.	1977	Central fibrous rod domain.				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						CGCCGATGGCGGCCAGCTTCT	0.741000														12			5		0	0	0.00116845	0	0
COBL	23242	broad.mit.edu	37	7	51097239	51097239	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:51097239G>A	uc003tps.3	-	10	1910	c.1725C>T	c.(1723-1725)atC>atT	p.I575I	COBL_uc003tpr.4_Silent_p.I518I|COBL_uc011kcl.2_Silent_p.I518I|COBL_uc003tpp.4_Silent_p.I304I|COBL_uc003tpq.4_Silent_p.I459I|COBL_uc003tpo.4_Silent_p.I60I	NM_015198	NP_056013	O75128	COBL_HUMAN	Homo sapiens cordon-bleu homolog (mouse) (COBL), mRNA.	518										NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					ATGCACCATGGATGGAGCTGG	0.488000														59			27		0	0	0.0024448	0	0
LAMB3	3914	broad.mit.edu	37	1	209806442	209806442	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:209806442G>A	uc001hhg.3	-	5	991	c.601C>T	c.(601-603)Cca>Tca	p.P201S	LAMB3_uc009xco.3_Missense_Mutation_p.P201S|LAMB3_uc001hhh.3_Missense_Mutation_p.P201S|LAMB3_uc010psl.1_Non-coding_Transcript|LAMB3_uc009xcp.1_Missense_Mutation_p.P137S	NM_001017402	NP_001121113	Q13751	LAMB3_HUMAN	Homo sapiens laminin, beta 3 (LAMB3), transcript variant 2, mRNA.	201	Laminin N-terminal.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		TGAGTTGCTGGAATCCCAGAC	0.463000														39			24		0	0	0.00127121	0	0
SLC22A16	85413	broad.mit.edu	37	6	110778126	110778126	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:110778126G>A	uc003puf.3	-	1	215	c.148C>T	c.(148-150)Cat>Tat	p.H50Y	SLC22A16_uc003pue.3_Missense_Mutation_p.H63Y|SLC22A16_uc003pug.3_Missense_Mutation_p.H50Y	NM_033125	NP_149116	Q86VW1	S22AG_HUMAN	Homo sapiens solute carrier family 22 (organic cation/carnitine transporter), member 16 (SLC22A16), mRNA.	50					acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis	integral to membrane	carnitine transporter activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)		CTGCAGACATGATGAGGGGTG	0.488000														44			20		0	0	0.000958276	0	0
PHF12	57649	broad.mit.edu	37	17	27233206	27233206	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr17:27233206G>A	uc002hdg.1	-	14	3540	c.3010C>T	c.(3010-3012)Cct>Tct	p.P1004S	PHF12_uc010wbb.1_Missense_Mutation_p.P986S	NM_001033561	NP_001028733	Q96QT6	PHF12_HUMAN	Homo sapiens PHD finger protein 12 (PHF12), transcript variant 1, mRNA.	1004					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)			CAGTCCTAAGGAACAGAGTTG	0.587000														24			12		0	0	0.00136819	0	0
INO80D	54891	broad.mit.edu	37	2	206921299	206921299	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:206921299G>A	uc002vaz.4	-	3	992	c.587C>T	c.(586-588)cCc>cTc	p.P196L		NM_017759	NP_060229	Q53TQ3	IN80D_HUMAN	Homo sapiens INO80 complex subunit D (INO80D), mRNA.	196					DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	26						TGCAGGAGGGGGACTAAAGTG	0.537000														8			5		0	0	0.000602214	0	0
OR1J4	26219	broad.mit.edu	37	9	125281448	125281448	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr9:125281448C>T	uc011lyw.2	+	0	29	c.29C>T	c.(28-30)tCt>tTt	p.S10F		NM_001004452	NP_001004452	Q8NGS1	OR1J4_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily J, member 4 (OR1J4), mRNA.	10					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	20						AGCAGTGTGTCTGAGTTCCTC	0.502000														96			22		0	0	0.00278032	0	0
CYP4F8	11283	broad.mit.edu	37	19	15739113	15739113	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:15739113G>A	uc002nbi.3	+	11	1177	c.1113_splice	c.e11-1	p.W371_splice	CYP4F8_uc010xoj.2_Splice_Site_p.W184_splice	NM_007253	NP_009184	P98187	CP4F8_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 8 (CYP4F8), mRNA.	372					prostaglandin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26						TTTCCTTAGGGACGACCTGGC	0.602000														66			28		0	0	0.00283554	0	0
EIF2C3	192669	broad.mit.edu	37	1	36439011	36439011	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:36439011C>T	uc001bzp.3	+	4	902	c.557C>T	c.(556-558)cCa>cTa	p.P186L	EIF2C3_uc001bzn.1_Missense_Mutation_p.P186L|EIF2C3_uc001bzq.3_Intron	NM_024852	NP_079128	Q9H9G7	AGO3_HUMAN	Homo sapiens eukaryotic translation initiation factor 2C, 3 (EIF2C3), transcript variant 1, mRNA.	186					mRNA catabolic process|negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|cytosol	RNA binding|protein binding	p.A185T(1)		NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(11)|skin(1)|upper_aerodigestive_tract(4)	33		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TTCTCCGCTCCAGAAGGATAT	0.443000														77			63		0	0	0.00361006	0	0
SORBS1	10580	broad.mit.edu	37	10	97097047	97097047	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr10:97097047G>A	uc001kkp.3	-	27	2915	c.2870C>T	c.(2869-2871)tCc>tTc	p.S957F	SORBS1_uc001kkk.3_Intron|SORBS1_uc001kkl.3_Intron|SORBS1_uc001kkn.3_Intron|SORBS1_uc001kkm.3_Intron|SORBS1_uc001kko.3_Intron|SORBS1_uc001kkq.3_Intron|SORBS1_uc001kkr.3_Intron|SORBS1_uc001kks.3_Intron|SORBS1_uc001kkt.3_Intron|SORBS1_uc001kku.3_Intron|SORBS1_uc001kkv.3_Intron|SORBS1_uc001kkw.3_Missense_Mutation_p.S911F|SORBS1_uc010qoe.2_Intron	NM_001034954	NP_001030126	Q9BX66	SRBS1_HUMAN	Homo sapiens sorbin and SH3 domain containing 1 (SORBS1), transcript variant 3, mRNA.	957					focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly	centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens	SH3/SH2 adaptor activity|actin binding|insulin receptor binding			NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		GCTGTGACTGGAAAACTTaaa	0.478000														4			7		0	0	0.00307968	0	0
HEATR1	55127	broad.mit.edu	37	1	236736086	236736086	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:236736086G>A	uc001hyd.2	-	24	3654	c.3502C>T	c.(3502-3504)Cca>Tca	p.P1168S	HEATR1_uc009xgh.2_Missense_Mutation_p.P330S	NM_018072	NP_060542	Q9H583	HEAT1_HUMAN	Homo sapiens HEAT repeat containing 1 (HEATR1), mRNA.	1168					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding	p.P1167A(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			GCTTTATCTGGTGGCTCCAGT	0.393000														211			100		0	0	0.00361006	0	0
NLRP8	126205	broad.mit.edu	37	19	56490864	56490864	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:56490864G>A	uc002qmh.3	+	8	3052	c.2981G>A	c.(2980-2982)gGa>gAa	p.G994E	NLRP8_uc010etg.3_Missense_Mutation_p.G975E	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	Homo sapiens NLR family, pyrin domain containing 8 (NLRP8), mRNA.	994						cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		AATGCGATTGGAGTCTATGGT	0.488000														95			35		0	0	0.000953801	0	0
TCOF1	6949	broad.mit.edu	37	5	149754238	149754238	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:149754238C>T	uc003lry.3	+	8	1250	c.1142C>T	c.(1141-1143)tCc>tTc	p.S381F	TCOF1_uc003lrw.3_Missense_Mutation_p.S381F|TCOF1_uc003lrz.3_Missense_Mutation_p.S381F|TCOF1_uc011dch.2_Missense_Mutation_p.S381F|TCOF1_uc003lrx.3_Missense_Mutation_p.S304F|TCOF1_uc003lsa.3_Missense_Mutation_p.S304F|TCOF1_uc011dci.1_5'Flank	NM_001135243	NP_001128715	Q13428	TCOF_HUMAN	Homo sapiens Treacher Collins-Franceschetti syndrome 1 (TCOF1), transcript variant 4, mRNA.	381					skeletal system development	nucleolus	protein binding|transporter activity			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCCAAGGAGTCCCCCAGGAAA	0.657000														38			11		0	0	0.000978159	0	0
ZBTB1	22890	broad.mit.edu	37	14	64988779	64988779	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr14:64988779C>T	uc021rul.1	+	0	557	c.557C>T	c.(556-558)cCt>cTt	p.P186L	ZBTB1_uc001xhh.4_Missense_Mutation_p.P186L|ZBTB1_uc010aqg.3_Missense_Mutation_p.P186L|ZBTB1_uc001xhi.2_Missense_Mutation_p.P186L|ZBTB1_uc021rum.1_5'Flank	NM_001123329	NP_001116801	Q9Y2K1	ZBTB1_HUMAN	Homo sapiens zinc finger and BTB domain containing 1 (ZBTB1), transcript variant 1, mRNA.	186					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	13		all_lung(585;0.000567)|Myeloproliferative disorder(585;0.0255)|all_neural(303;0.0294)		UCEC - Uterine corpus endometrioid carcinoma (185;0.0182)|all cancers(60;3.78e-43)|OV - Ovarian serous cystadenocarcinoma(108;1.22e-20)|BRCA - Breast invasive adenocarcinoma(234;6.75e-06)|KIRC - Kidney renal clear cell carcinoma(182;0.00269)|STAD - Stomach adenocarcinoma(64;0.012)		GGTAATTTTCCTGAGCCACTA	0.413000														25			17		0	0	0.00074312	0	0
SLC44A2	57153	broad.mit.edu	37	19	10741781	10741781	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:10741781C>T	uc002mpf.3	+	4	433	c.294C>T	c.(292-294)ccC>ccT	p.P98P	SLC44A2_uc002mpe.4_Silent_p.P96P	NM_020428	NP_065161	Q8IWA5	CTL2_HUMAN	Homo sapiens solute carrier family 44, member 2 (SLC44A2), transcript variant 1, mRNA.	98					positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane|plasma membrane	choline transmembrane transporter activity|signal transducer activity			NS(1)|breast(3)|endometrium(5)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27			Epithelial(33;8.7e-06)|all cancers(31;2.77e-05)		Choline(DB00122)	GTGCCAGCCCCCTGGTTCTGC	0.458000														69			37		0	0	0.00111076	0	0
ZNF556	80032	broad.mit.edu	37	19	2877312	2877312	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:2877312G>A	uc002lwp.1	+	3	443	c.356G>A	c.(355-357)gGt>gAt	p.G119D	ZNF556_uc002lwq.3_Missense_Mutation_p.G118D	NM_024967	NP_079243	Q9HAH1	ZN556_HUMAN	Homo sapiens zinc finger protein 556 (ZNF556), mRNA.	119					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)		AGCAGTAAAGGTAATAAACGT	0.363000														21			9		0	0	0.000274275	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140221721	140221721	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:140221721G>A	uc003lhs.2	+	0	815	c.815G>A	c.(814-816)gGa>gAa	p.G272E	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhr.1_Missense_Mutation_p.G272E	NM_018911	NP_061734	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 8 (PCDHA8), transcript variant 1, mRNA.	287	Cadherin 3.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCGGATGAAGGAGCCAATGGG	0.398000														42			26		0	0	0.00395357	0	0
MBD5	55777	broad.mit.edu	37	2	149247566	149247566	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:149247566C>T	uc002twm.4	+	11	4663	c.3666C>T	c.(3664-3666)atC>atT	p.I1222I	MBD5_uc010zbs.2_Intron|MBD5_uc002two.3_Silent_p.I480I|MBD5_uc002twp.3_Silent_p.I272I	NM_018328	NP_060798	Q9P267	MBD5_HUMAN	Homo sapiens methyl-CpG binding domain protein 5 (MBD5), mRNA.	1222						chromosome|nucleus	DNA binding|chromatin binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		CAGGCCATATCCACAGTAGTC	0.502000														61			24		0	0	0.00229938	0	0
LPAR3	23566	broad.mit.edu	37	1	85331711	85331711	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:85331711C>T	uc001dkl.2	-	0	132	c.93G>A	c.(91-93)gtG>gtA	p.V31V	LPAR3_uc009wcj.1_Silent_p.V31V	NM_012152	NP_036284	Q9UBY5	LPAR3_HUMAN	Homo sapiens lysophosphatidic acid receptor 3 (LPAR3), mRNA.	31					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane|intracellular membrane-bounded organelle				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|urinary_tract(1)	24						ACAAAACAATCACAAGCTTTG	0.383000														147			45		0	0	0.00285205	0	0
KRTAP5-4	387267	broad.mit.edu	37	11	1642863	1642863	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:1642863G>A	uc009ycy.1	-	2	443	c.356C>T	c.(355-357)tCc>tTc	p.S119F	MOB2_uc001ltq.2_Intron	NM_001012709	NP_001012727	Q6L8H1	KRA54_HUMAN	Homo sapiens keratin associated protein 5-4 (KRTAP5-4), mRNA.	214	9 X 4 AA repeats of C-C-X-P.					keratin filament				NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CTGGCAGCAGGATGACCCACA	0.622000														86			46		0	0	0.00361006	0	0
NWD1	284434	broad.mit.edu	37	19	16860421	16860421	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:16860421G>A	uc002neu.4	+	5	1390	c.968G>A	c.(967-969)gGg>gAg	p.G323E	NWD1_uc002net.4_Missense_Mutation_p.G188E|NWD1_uc002nev.4_Missense_Mutation_p.G117E|NWD1_uc021uqg.1_Missense_Mutation_p.G188E	NM_001007525	NP_001007526	Q149M9	NWD1_HUMAN	Homo sapiens NACHT and WD repeat domain containing 1 (NWD1), mRNA.	323							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						GCCCGGCTTGGGCAGCAGCTC	0.617000														33			13		0	0	0.00316338	0	0
FOLH1	2346	broad.mit.edu	37	11	49175467	49175467	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:49175467G>A	uc001ngy.3	-	16	2162	c.1901C>T	c.(1900-1902)tCt>tTt	p.S634F	FOLH1_uc001ngx.3_Missense_Mutation_p.S66F|FOLH1_uc009yly.3_Missense_Mutation_p.S619F|FOLH1_uc009ylz.3_Missense_Mutation_p.S619F|FOLH1_uc001ngz.3_Missense_Mutation_p.S634F|FOLH1_uc009yma.3_Missense_Mutation_p.S326F	NM_004476	NP_001180402	Q04609	FOLH1_HUMAN	Homo sapiens folate hydrolase (prostate-specific membrane antigen) 1 (FOLH1), transcript variant 1, mRNA.	634					proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)|L-Glutamic Acid(DB00142)	CTTTACTGCAGAAAAAAGTGA	0.328000														47			16		0	0	0.000566183	0	0
ACE	1636	broad.mit.edu	37	17	61557233	61557233	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr17:61557233G>A	uc002jau.2	+	3	649	c.615G>A	c.(613-615)gaG>gaA	p.E205E	ACE_uc010wpi.2_Silent_p.E205E|ACE_uc010ddu.2_Silent_p.E22E	NM_000789	NP_000780	P12821	ACE_HUMAN	Homo sapiens angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 (ACE), transcript variant 1, mRNA.	205	Peptidase M2 1.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	CGCTGTACGAGGATTTCACTG	0.612000														22			7		0	0	0.00198382	0	0
SCARF1	8578	broad.mit.edu	37	17	1540267	1540267	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr17:1540267G>A	uc002fsz.1	-	8	1504	c.1454C>T	c.(1453-1455)tCc>tTc	p.S485F	SCARF1_uc002fsy.1_Missense_Mutation_p.S485F|SCARF1_uc002fta.1_Non-coding_Transcript|SCARF1_uc010cjv.1_Missense_Mutation_p.S399F	NM_003693	NP_003684	Q14162	SREC_HUMAN	Homo sapiens scavenger receptor class F, member 1 (SCARF1), transcript variant 1, mRNA.	485	Pro/Ser-rich.				cell adhesion|neuron remodeling|positive regulation of axon regeneration|receptor-mediated endocytosis	integral to membrane	low-density lipoprotein particle binding|scavenger receptor activity			cervix(1)|endometrium(3)|kidney(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		GGAGCTGAGGGAACGGCAGGG	0.657000														19			19		0	0	0.000958276	0	0
KEL	3792	broad.mit.edu	37	7	142643326	142643326	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:142643326G>A	uc003wcb.3	-	10	1492	c.1282C>T	c.(1282-1284)Cgt>Tgt	p.R428C		NM_000420	NP_000411	P23276	KELL_HUMAN	Homo sapiens Kell blood group, metallo-endopeptidase (KEL), mRNA.	428					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					AAGGCCTCACGAACAAACAAA	0.592000														27			10		0	0	0.000978159	0	0
HNF1A	6927	broad.mit.edu	37	12	121416709	121416709	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:121416709G>A	uc001tzg.3	+	0	161	c.138G>A	c.(136-138)aaG>aaA	p.K46K	HNF1A_uc021rex.1_Intron|HNF1A_uc021rey.1_Intron|HNF1A_uc021rez.1_Intron|HNF1A_uc001tze.2_Silent_p.K46K|HNF1A_uc001tzf.3_Silent_p.K46K|HNF1A_uc010szn.2_Silent_p.K46K|HNF1A_uc021rfa.1_Silent_p.K46K|HNF1A_uc021rfb.1_5'UTR|HNF1A_uc021rfc.1_Non-coding_Transcript	NM_000545	NP_000536	P20823	HNF1A_HUMAN	Homo sapiens HNF1 homeobox A (HNF1A), mRNA.	46					glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption	cytoplasm|nucleus|protein complex	DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	p.D45fs*9(2)|p.D45fs*102(2)|p.Y36fs*107(1)|p.?(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	221	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CCCTGGACAAGGGGGAGTCCT	0.697000									Hepatic Adenoma, Familial Clustering of					139			63		0	0	0.00361006	0	0
COLEC10	10584	broad.mit.edu	37	8	120116118	120116118	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr8:120116118G>A	uc003yoo.3	+	4	523	c.426G>A	c.(424-426)atG>atA	p.M142I		NM_006438	NP_006429	Q9Y6Z7	COL10_HUMAN	Homo sapiens collectin sub-family member 10 (C-type lectin) (COLEC10), mRNA.	142						collagen|cytoplasm	mannose binding			endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21	all_cancers(13;4.13e-26)|Lung NSC(37;1.36e-07)|Ovarian(258;0.018)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00113)			AGACATCTATGAAGTTTGTCA	0.353000														49			17		0	0	0.000566183	0	0
DNAH5	1767	broad.mit.edu	37	5	13900364	13900364	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:13900364G>A	uc003jfd.2	-	14	2252	c.2210C>T	c.(2209-2211)tCc>tTc	p.S737F		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	737	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)					CTGGAAGAGGGAAGTTGCCAG	0.408000									Kartagener syndrome					46			20		0	0	0.00278032	0	0
KCNC1	3746	broad.mit.edu	37	11	17794027	17794027	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:17794027G>A	uc009yhc.1	+	1	1441	c.1386G>A	c.(1384-1386)cgG>cgA	p.R462R	KCNC1_uc001mnk.4_Silent_p.R462R	NM_001112741	NP_001106212	P48547	KCNC1_HUMAN	Homo sapiens potassium voltage-gated channel, Shaw-related subfamily, member 1 (KCNC1), transcript variant A, mRNA.	462						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						ATATTCCGCGGCCACCGCAGC	0.478000														48			18		0	0	0.000566183	0	0
ERBB4	2066	broad.mit.edu	37	2	212570094	212570094	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:212570094C>T	uc002veg.1	-	9	1245	c.1147G>A	c.(1147-1149)Gcc>Acc	p.A383T	ERBB4_uc002veh.1_Missense_Mutation_p.A383T|ERBB4_uc010zji.1_Missense_Mutation_p.A383T|ERBB4_uc010zjj.1_Missense_Mutation_p.A383T|ERBB4_uc010fut.1_Missense_Mutation_p.A383T	NM_005235	NP_005226	Q15303	ERBB4_HUMAN	Homo sapiens v-erb-a erythroblastic leukemia viral oncogene homolog 4 (avian) (ERBB4), transcript variant JM-a/CVT-1, mRNA.	383					cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		GGGTCTATGGCTTCAATTGCA	0.323000										TSP Lung(8;0.080)				94			24		0	0	0.00127121	0	0
RICTOR	253260	broad.mit.edu	37	5	38964940	38964940	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:38964940G>A	uc003jlo.2	-	15	1376	c.1354C>T	c.(1354-1356)Cta>Tta	p.L452L	RICTOR_uc003jlp.2_Silent_p.L452L|RICTOR_uc010ivf.2_Silent_p.L167L	NM_152756	NP_689969	Q6R327	RICTR_HUMAN	Homo sapiens RPTOR independent companion of MTOR, complex 2 (RICTOR), mRNA.	452					T cell costimulation|actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade	TORC2 complex|cytosol	protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					ATATTCATTAGGGTTGGCAAG	0.338000														43			16		0	0	0.00121646	0	0
UVSSA	57654	broad.mit.edu	37	4	1343519	1343519	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr4:1343519C>T	uc003gde.4	+	2	753	c.306C>T	c.(304-306)ccC>ccT	p.P102P		NM_020894	NP_065945	Q2YD98	K1530_HUMAN	Homo sapiens KIAA1530 (KIAA1530), mRNA.	102																	TGCCGCCCCCCAGGGAGGCGG	0.637000														12			14		0	0	0.00316338	0	0
PHF15	23338	broad.mit.edu	37	5	133895526	133895527	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:133895526_133895527CC>TT	uc003kzk.2	+	4	404_405	c.366_367CC>TT	c.(364-369)ctccca>ctTTca	p.P123S	PHF15_uc011cxt.1_Missense_Mutation_p.P107S|PHF15_uc003kzl.2_Missense_Mutation_p.P107S|PHF15_uc003kzm.2_Missense_Mutation_p.P107S|PHF15_uc003kzn.2_Missense_Mutation_p.P107S|PHF15_uc003kzo.1_Missense_Mutation_p.P107S	NM_015288	NP_056103	Q9NQC1	JADE2_HUMAN	Homo sapiens PHD finger protein 15 (PHF15), mRNA.	107					histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CTAGGATCCTCCCACCACTGGA	0.634000														25			4		0	0	6.4e-05	0	0
GATA3	2625	broad.mit.edu	37	10	8115931	8115931	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr10:8115931C>T	uc001ijz.3	+	5	1837	c.1280C>T	c.(1279-1281)tCc>tTc	p.S427F	GATA3_uc001ika.3_Missense_Mutation_p.S426F	NM_001002295	NP_001002295	P23771	GATA3_HUMAN	Homo sapiens GATA binding protein 3 (GATA3), transcript variant 1, mRNA.	426					T cell receptor signaling pathway|TOR signaling cascade|aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of T cell differentiation|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|ureteric bud formation|uterus development|ventricular septum development	nuclear chromatin|nucleolus|nucleoplasm	E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|transcription coactivator activity|transcription factor binding|zinc ion binding	p.S427fs*>20(1)|p.S427fs*21(1)|p.S428fs*>18(1)		NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						CACCCGCCATCCAGCCTGTCC	0.662000			"""F, N, S"""		breast		"""HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"""							57			24		0	0	0.00209593	0	0
ZNF121	7675	broad.mit.edu	37	19	9676819	9676819	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:9676819A>C	uc010xkp.1	-	3	1202	c.970T>G	c.(970-972)Tct>Gct	p.S324A	ZNF121_uc010dwt.2_Missense_Mutation_p.S324A|ZNF121_uc010xkq.1_Missense_Mutation_p.S324A	NM_001008727	NP_001008727	P58317	ZN121_HUMAN	Homo sapiens zinc finger protein 121 (ZNF121), mRNA.	324					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|kidney(4)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)	24						AGTTGTGAAGATGTAGCAAAG	0.393000														38			25		0	0	0.00332997	0	0
UBE3A	7337	broad.mit.edu	37	15	25585360	25585360	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr15:25585360G>A	uc001zaq.3	-	12	3139	c.2379C>T	c.(2377-2379)atC>atT	p.I793I	SNRPN_uc001zae.3_Intron|UBE3A_uc001zar.3_Silent_p.I770I|UBE3A_uc001zas.3_Silent_p.I790I|UBE3A_uc001zat.3_Silent_p.I770I	NM_000462	NP_570853	Q05086	UBE3A_HUMAN	Homo sapiens ubiquitin protein ligase E3A (UBE3A), transcript variant 2, mRNA.	793	HECT.				brain development|interspecies interaction between organisms|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity	p.I793F(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	38		all_cancers(20;3.47e-21)|Breast(32;0.00123)		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)		ATGAATGAACGATTTCCCAGA	0.363000														24			20		0	0	0.00188189	0	0
SCN8A	6334	broad.mit.edu	37	12	52200418	52200418	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:52200418C>T	uc001ryw.3	+	26	5326	c.5148C>T	c.(5146-5148)aaC>aaT	p.N1716N	SCN8A_uc010snl.2_Silent_p.N1675N	NM_014191	NP_055006	Q9UQD0	SCN8A_HUMAN	Homo sapiens sodium channel, voltage gated, type VIII, alpha subunit (SCN8A), transcript variant 1, mRNA.	1716					axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	CCATCCTAAACCGCCCCCCTG	0.507000														40			16		0	0	0.00316338	0	0
FAM123C	205147	broad.mit.edu	37	2	131520966	131520966	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:131520966G>A	uc021voy.1	+	0	1321	c.1321G>A	c.(1321-1323)Gac>Aac	p.D441N	FAM123C_uc002trw.2_Missense_Mutation_p.D441N|FAM123C_uc010fmv.2_Missense_Mutation_p.D441N|FAM123C_uc010fms.1_Missense_Mutation_p.D441N|FAM123C_uc010fmt.1_Missense_Mutation_p.D441N|FAM123C_uc010fmu.1_Missense_Mutation_p.D441N	NM_152698	NP_689911	Q8N944	F123C_HUMAN	Homo sapiens family with sequence similarity 123C (FAM123C), transcript variant 1, mRNA.	441								p.D440N(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(43)|ovary(2)|pancreas(4)|prostate(3)|skin(8)	73	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.13)		CCCAGATGATGACCTGTGCGT	0.662000														37			15		0	0	0.00074312	0	0
ARHGAP44	9912	broad.mit.edu	37	17	12888155	12888155	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr17:12888155G>A	uc002gnr.4	+	19	2574	c.2247G>A	c.(2245-2247)tcG>tcA	p.S749S	ARHGAP44_uc010vvk.2_Silent_p.S749S|ARHGAP44_uc010vvl.2_Silent_p.S743S|ARHGAP44_uc002gns.4_Silent_p.S543S|ARHGAP44_uc010vvm.2_Silent_p.S743S|ARHGAP44_uc010vvn.2_Non-coding_Transcript|ARHGAP44_uc021tqh.1_5'Flank	NM_014859	NP_055674	Q17R89	RHG44_HUMAN	Homo sapiens Rho GTPase activating protein 44 (ARHGAP44), mRNA.	749					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1)	31						TAAACCTCTCGGCCTCTAGTC	0.567000														21			13		0	0	0.00244969	0	0
CANT1	124583	broad.mit.edu	37	17	76993539	76993539	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr17:76993539G>A	uc002jwj.3	-	1	661	c.166C>T	c.(166-168)Ctc>Ttc	p.L56F	CANT1_uc002jwn.3_Missense_Mutation_p.L56F|CANT1_uc002jwk.3_Missense_Mutation_p.L56F|CANT1_uc002jwl.2_Non-coding_Transcript	NM_138793	NP_620148	Q8WVQ1	CANT1_HUMAN	Homo sapiens calcium activated nucleotidase 1 (CANT1), transcript variant 1, mRNA.	56					positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi cisterna membrane|endoplasmic reticulum membrane|integral to membrane	calcium ion binding|nucleoside-diphosphatase activity|signal transducer activity		CANT1/ETV4(3)	cervix(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)	16			BRCA - Breast invasive adenocarcinoma(99;0.0362)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			AGCAGCCAGAGGATGGCAGCA	0.692000			T	ETV4	prostate									8			8		0	0	0.000274275	0	0
MARC1	64757	broad.mit.edu	37	1	220970051	220970051	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:220970051C>T	uc001hmt.3	+	2	764	c.516C>T	c.(514-516)ttC>ttT	p.F172F	MARC1_uc001hms.3_Silent_p.F172F	NM_022746	NP_073583	Q5VT66	MOSC1_HUMAN	Homo sapiens mitochondrial amidoxime reducing component 1 (MARC1), nuclear gene encoding mitochondrial protein, mRNA.	172							molybdenum ion binding|oxidoreductase activity|pyridoxal phosphate binding										TAACCAGCTTCCTGAAGTCAC	0.602000														26			9		0	0	0.000673444	0	0
SYNGAP1	8831	broad.mit.edu	37	6	33400470	33400470	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:33400470C>T	uc011dri.2	+	4	591	c.396C>T	c.(394-396)ttC>ttT	p.F132F	SYNGAP1_uc003oeo.1_Silent_p.F117F|SYNGAP1_uc010juy.3_Silent_p.F117F	NM_006772	NP_006763	Q96PV0	SYGP1_HUMAN	Homo sapiens synaptic Ras GTPase activating protein 1 (SYNGAP1), mRNA.	132					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						AGCAAGGCTTCCTGAGCCGAC	0.577000														20			4		0	0	0.00024832	0	0
PPP2R2C	5522	broad.mit.edu	37	4	6473925	6473925	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr4:6473925T>A	uc003gjc.3	-	0	249	c.32A>T	c.(31-33)aAc>aTc	p.N11I	PPP2R2C_uc011bwd.2_Intron|PPP2R2C_uc011bwe.2_Intron	NM_001206996	NP_001193925	Q9Y2T4	2ABG_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit B, gamma (PPP2R2C), transcript variant 5, mRNA.	11					signal transduction	protein phosphatase type 2A complex	protein phosphatase type 2A regulator activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	28						GAAGCTGTGGTTAATTTTCCG	0.657000														96			47		0	0	0.00361006	0	0
MUC16	94025	broad.mit.edu	37	19	9068032	9068032	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:9068032C>T	uc002mkp.3	-	2	19618	c.19414G>A	c.(19414-19416)Ggg>Agg	p.G6472R		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	6474	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						GAGTGGGTCCCTGCCTGTGAG	0.488000														82			38		0	0	0.00195071	0	0
CD164L2	388611	broad.mit.edu	37	1	27706566	27706567	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:27706566_27706567CC>TT	uc001boc.3	-	4	568_569	c.492_493GG>AA	c.(490-495)aaggcc>aaAAcc	p.A165T		NM_207397	NP_997280	Q6UWJ8	C16L2_HUMAN	Homo sapiens CD164 sialomucin-like 2 (CD164L2), mRNA.	165						integral to membrane				endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00128)|KIRC - Kidney renal clear cell carcinoma(1967;0.00155)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		CTGTCCTTGGCCTTGAGGAAGT	0.599000														60			53		0	0	6.4e-05	0	0
KHDRBS2	202559	broad.mit.edu	37	6	62390905	62390905	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:62390905C>T	uc003peg.2	-	8	1260	c.1013G>A	c.(1012-1014)aGa>aAa	p.R338K		NM_152688	NP_689901	Q5VWX1	KHDR2_HUMAN	Homo sapiens KH domain containing, RNA binding, signal transduction associated 2 (KHDRBS2), mRNA.	338					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)		GTATCCCCCTCTGGCTGACCT	0.493000														29			22		0	0	0.00278032	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140720539	140720539	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:140720539G>A	uc003ljk.2	+	0	2186	c.2001G>A	c.(1999-2001)agG>agA	p.R667R	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc011dao.2_Silent_p.R667R	NM_018915	NP_061738	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 2 (PCDHGA2), transcript variant 1, mRNA.	669	Cadherin 6.				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)			TGGCCGACAGGATCCCCGACA	0.682000														45			22		0	0	0.00395357	0	0
RPS6KA1	6195	broad.mit.edu	37	1	26900643	26900643	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:26900643C>G	uc001bmr.1	+	21	2322	c.2159C>G	c.(2158-2160)tCc>tGc	p.S720C	RPS6KA1_uc010ofe.1_Missense_Mutation_p.S628C|RPS6KA1_uc001bms.1_Missense_Mutation_p.S729C|RPS6KA1_uc009vsl.1_Missense_Mutation_p.S563C	NM_002953	NP_002944	Q15418	KS6A1_HUMAN	Homo sapiens ribosomal protein S6 kinase, 90kDa, polypeptide 1 (RPS6KA1), transcript variant 1, mRNA.	720					MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|axon guidance|innate immune response|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity			lung(1)	1		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)		ATCGAGTCATCCATCCTGGCC	0.627000														36			31		0	0	0.0024448	0	0
ITGA7	3679	broad.mit.edu	37	12	56090745	56090745	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:56090745C>T	uc001shh.3	-	11	1907	c.1687G>A	c.(1687-1689)Ggc>Agc	p.G563S	ITGA7_uc001shg.3_Missense_Mutation_p.G559S|ITGA7_uc010sps.2_Missense_Mutation_p.G466S|ITGA7_uc009znw.3_5'Flank|ITGA7_uc009znx.3_Missense_Mutation_p.G440S	NM_001144996	NP_001138468	Q13683	ITA7_HUMAN	Homo sapiens integrin, alpha 7 (ITGA7), transcript variant 1, mRNA.	603					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						CACACGGTGCCCGAGGCCTGG	0.602000														21			14		0	0	0.00316338	0	0
C4orf22	255119	broad.mit.edu	37	4	81504291	81504291	+	Missense_Mutation	SNP	C	T	T	rs142731425	byFrequency	TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr4:81504291C>T	uc010ijp.3	+	2	336	c.287C>T	c.(286-288)aCg>aTg	p.T96M	C4orf22_uc003hmf.3_Missense_Mutation_p.T96M	NM_001206997	NP_001193926	Q6V702	CD022_HUMAN	Homo sapiens chromosome 4 open reading frame 22 (C4orf22), transcript variant 1, mRNA.	96										NS(1)|large_intestine(3)|lung(5)|prostate(1)|skin(5)	15						AATTTTCTGACGGCCCTGGCA	0.353000														57			33		0	0	0.00128727	0	0
MECOM	2122	broad.mit.edu	37	3	168845701	168845701	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:168845701T>A	uc011bpj.1	-	4	1164	c.761A>T	c.(760-762)aAt>aTt	p.N254I	MECOM_uc010hwk.1_Missense_Mutation_p.N89I|MECOM_uc003ffj.3_Missense_Mutation_p.N130I|MECOM_uc003ffi.3_Missense_Mutation_p.N66I|MECOM_uc011bpi.1_Missense_Mutation_p.N66I|MECOM_uc003ffn.3_Missense_Mutation_p.N66I|MECOM_uc003ffk.2_Missense_Mutation_p.N66I|MECOM_uc003ffl.2_Missense_Mutation_p.N226I|MECOM_uc011bpk.1_Missense_Mutation_p.N66I|MECOM_uc010hwn.2_Missense_Mutation_p.N254I|MECOM_uc003ffm.1_Missense_Mutation_p.N130I	NM_004991	NP_004982	Q13465	MDS1_HUMAN	Homo sapiens MDS1 and EVI1 complex locus (MECOM), transcript variant 4, mRNA.	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						TTGGAGATCATTCTCGCTTTC	0.413000														118			39		0	0	0.00222228	0	0
PDGFRA	5156	broad.mit.edu	37	4	55131142	55131142	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr4:55131142G>A	uc003han.4	+	4	1016	c.685G>A	c.(685-687)Gaa>Aaa	p.E229K	PDGFRA_uc003haa.3_Intron|PDGFRA_uc003hal.3_3'UTR|PDGFRA_uc010igq.1_Missense_Mutation_p.E123K|PDGFRA_uc003ham.2_Non-coding_Transcript	NM_006206	NP_006197	P16234	PGFRA_HUMAN	Homo sapiens platelet-derived growth factor receptor, alpha polypeptide (PDGFRA), mRNA.	229	Ig-like C2-type 3.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of DNA replication|positive regulation of cell migration|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	TAAGTCAGGGGAAACGATTGT	0.423000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)				83			49		0	0	0.00361006	0	0
WISP3	8838	broad.mit.edu	37	6	112386127	112386127	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:112386127G>A	uc003pvo.3	+	2	706	c.570G>A	c.(568-570)aaG>aaA	p.K190K	WISP3_uc003pvm.3_Silent_p.K172K|WISP3_uc003pvn.3_Non-coding_Transcript	NM_198239	NP_003871	O95389	WISP3_HUMAN	Homo sapiens WNT1 inducible signaling pathway protein 3 (WISP3), transcript variant 3, mRNA.	172					cell-cell signaling|regulation of cell growth|signal transduction	extracellular region|soluble fraction	growth factor activity|insulin-like growth factor binding	p.K190N(2)		breast(1)|central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1)	13		all_cancers(87;0.000196)|Acute lymphoblastic leukemia(125;1.18e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0283)|OV - Ovarian serous cystadenocarcinoma(136;0.0613)|Epithelial(106;0.0827)|GBM - Glioblastoma multiforme(226;0.0972)|BRCA - Breast invasive adenocarcinoma(108;0.246)		AAGGTGGAAAGAAGTCTGATC	0.483000														50			33		0	0	0.00327116	0	0
ZNF80	7634	broad.mit.edu	37	3	113955649	113955649	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:113955649G>A	uc010hqo.3	-	0	777	c.273C>T	c.(271-273)gaC>gaT	p.D91D	ZNF80_uc003ebf.3_Non-coding_Transcript	NM_007136	NP_009067	P51504	ZNF80_HUMAN	Homo sapiens zinc finger protein 80 (ZNF80), mRNA.	91						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|urinary_tract(2)	32		Lung NSC(201;0.0233)|all_neural(597;0.0837)				GTCGAACGAAGTCGACCTTTT	0.532000														15			12		0	0	0.00136819	0	0
WNK2	65268	broad.mit.edu	37	9	96051797	96051797	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr9:96051797C>T	uc004ati.1	+	19	4872	c.4872C>T	c.(4870-4872)ccC>ccT	p.P1624P	WNK2_uc011lud.1_Silent_p.P1587P|WNK2_uc004atj.3_Silent_p.P1587P|WNK2_uc004atk.3_Silent_p.P1224P|WNK2_uc004atl.1_Silent_p.P182P	NM_006648	NP_006639	Q9Y3S1	WNK2_HUMAN	Homo sapiens WNK lysine deficient protein kinase 2 (WNK2), mRNA.	1624					intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						CCCTGGAGCCCCTGAGAGGGG	0.692000														14			6		0	0	0.00198382	0	0
FGD6	55785	broad.mit.edu	37	12	95603962	95603962	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:95603962C>T	uc001tdp.4	-	1	1322	c.1098G>A	c.(1096-1098)caG>caA	p.Q366Q	FGD6_uc009zsx.3_Intron	NM_018351	NP_060821	Q6ZV73	FGD6_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 6 (FGD6), mRNA.	366					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	Golgi apparatus|cytoskeleton|lamellipodium|ruffle	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding			breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						ACAAAACATTCTGATGCAGAA	0.373000														64			25		0	0	0.00278032	0	0
LOC100132352	100132352	broad.mit.edu	37	9	68728848	68728848	+	RNA	SNP	A	C	C			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr9:68728848A>C	uc022bhu.1	+	2		c.633A>C			LOC100132352_uc010mnp.2_Non-coding_Transcript					Homo sapiens FSHD region gene 1 pseudogene (LOC100132352), non-coding RNA.																		aagaagaaaaagagcaaagat	0.279000														76			5		0	0	0.00198382	0	0
IL1RL1	9173	broad.mit.edu	37	2	102968026	102968026	+	Missense_Mutation	SNP	G	A	A	rs150294315		TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:102968026G>A	uc002tbu.1	+	10	1587	c.1316G>A	c.(1315-1317)cGa>cAa	p.R439Q	IL18R1_uc002tbw.4_Intron	NM_016232	NP_057316	Q01638	ILRL1_HUMAN	Homo sapiens interleukin 1 receptor-like 1 (IL1RL1), transcript variant 1, mRNA.	439	TIR.				innate immune response	integral to membrane	interleukin-1 receptor activity|receptor signaling protein activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						ACCAACATACGAAAGAGCAGG	0.438000														23			17		0	0	0.000958276	0	0
OR13C8	138802	broad.mit.edu	37	9	107331799	107331799	+	Silent	SNP	G	A	A	rs140558238		TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr9:107331799G>A	uc011lvo.2	+	0	351	c.351G>A	c.(349-351)acG>acA	p.T117T		NM_001004483	NP_001004483	Q8NGS7	O13C8_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 8 (OR13C8), mRNA.	117					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						TCTTAGGCACGATGGCACTGG	0.522000														54			23		0	0	0.00229938	0	0
ZAP70	7535	broad.mit.edu	37	2	98351917	98351917	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:98351917G>A	uc002syd.1	+	9	1494	c.1287G>A	c.(1285-1287)aaG>aaA	p.K429K	ZAP70_uc010yvf.1_3'UTR|ZAP70_uc002sye.1_Silent_p.K319K|ZAP70_uc002syf.1_Silent_p.K122K	NM_001079	NP_997402	P43403	ZAP70_HUMAN	Homo sapiens zeta-chain (TCR) associated protein kinase 70kDa (ZAP70), transcript variant 1, mRNA.	429	Protein kinase.				T cell receptor signaling pathway|immune response|intracellular protein kinase cascade|positive thymic T cell selection	T cell receptor complex|cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						TGGTCGGCAAGAGGTGAGCAC	0.697000														31			15		0	0	0.00400662	0	0
DMBX1	127343	broad.mit.edu	37	1	46976761	46976761	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:46976761C>T	uc001cpx.3	+	2	518	c.503C>T	c.(502-504)cCa>cTa	p.P168L	DMBX1_uc001cpw.3_Missense_Mutation_p.P163L	NM_147192	NP_671725	Q8NFW5	DMBX1_HUMAN	Homo sapiens diencephalon/mesencephalon homeobox 1 (DMBX1), transcript variant 2, mRNA.	168					brain development|developmental growth|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)					GAGCAGCCCCCACGTCTGCCT	0.647000														59			45		0	0	0.00361006	0	0
VPS8	23355	broad.mit.edu	37	3	184577778	184577778	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:184577778G>A	uc021xik.1	+	13	1237	c.1149G>A	c.(1147-1149)aaG>aaA	p.K383K	VPS8_uc003fpb.1_Silent_p.K381K|VPS8_uc010hyd.1_Silent_p.K381K	NM_001009921	NP_001009921	Q8N3P4	VPS8_HUMAN	Homo sapiens vacuolar protein sorting 8 homolog (S. cerevisiae) (VPS8), transcript variant 1, mRNA.	383							zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)			ATCAGGTAAAGAGAGATGAAT	0.323000														33			16		0	0	0.00074312	0	0
CEP350	9857	broad.mit.edu	37	1	179989379	179989379	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:179989379C>T	uc001gnt.3	+	11	2853	c.2470C>T	c.(2470-2472)Cgt>Tgt	p.R824C	CEP350_uc009wxl.2_Missense_Mutation_p.R823C|CEP350_uc001gnu.3_Missense_Mutation_p.R658C	NM_014810	NP_055625	Q5VT06	CE350_HUMAN	Homo sapiens centrosomal protein 350kDa (CEP350), mRNA.	824						centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						TAAACTGGATCGTATTGAAGC	0.433000														142			66		0	0	0.00361006	0	0
CCDC146	57639	broad.mit.edu	37	7	76908345	76908345	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:76908345G>A	uc003uga.3	+	12	1748	c.1621G>A	c.(1621-1623)Gaa>Aaa	p.E541K	CCDC146_uc010ldp.3_Missense_Mutation_p.E255K	NM_020879	NP_065930	Q8IYE0	CC146_HUMAN	Homo sapiens coiled-coil domain containing 146 (CCDC146), mRNA.	541										breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	34		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)				GAAAGTAAATGAAATAAAAGA	0.308000														35			15		0	0	0.00400662	0	0
XRN1	54464	broad.mit.edu	37	3	142083988	142083988	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:142083988G>A	uc003eus.3	-	28	3362	c.3295C>T	c.(3295-3297)Cgg>Tgg	p.R1099W	XRN1_uc010huu.3_Missense_Mutation_p.R565W|XRN1_uc003eut.3_Missense_Mutation_p.R1099W|XRN1_uc003euu.3_Missense_Mutation_p.R1099W	NM_019001	NP_061874	Q8IZH2	XRN1_HUMAN	Homo sapiens 5'-3' exoribonuclease 1 (XRN1), transcript variant 1, mRNA.	1099					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	Golgi apparatus|cytosol|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|RNA binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						TCTGCATCCCGATCAGGAATG	0.358000														28			19		0	0	0.00395357	0	0
TIMD4	91937	broad.mit.edu	37	5	156381622	156381622	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:156381622G>A	uc003lwh.2	-	1	261	c.204C>T	c.(202-204)ctC>ctT	p.L68L	TIMD4_uc010jii.2_Silent_p.L68L	NM_138379	NP_612388	Q96H15	TIMD4_HUMAN	Homo sapiens T-cell immunoglobulin and mucin domain containing 4 (TIMD4), transcript variant 1, mRNA.	68	Ig-like V-type.					integral to membrane		p.A67V(1)		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)			CAGTGCGGATGAGCGCCTCCT	0.527000														328			125		0	0	0.00361006	0	0
MYH8	4626	broad.mit.edu	37	17	10303854	10303854	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr17:10303854C>T	uc002gmm.2	-	26	3683	c.3588G>A	c.(3586-3588)cgG>cgA	p.R1196R	AK097500_uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA.	1196					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						CGTGCTTCTTCCGAAGAGCAG	0.547000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling					32			21		0	0	0.00152264	0	0
PROM2	150696	broad.mit.edu	37	2	95941806	95941806	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:95941806G>A	uc002suk.3	+	2	556	c.423G>A	c.(421-423)aaG>aaA	p.K141K	PROM2_uc002suh.2_Silent_p.K141K|PROM2_uc002sui.3_Silent_p.K141K|PROM2_uc002suj.3_5'UTR|PROM2_uc002sul.3_5'UTR	NM_001165977	NP_653308	Q8N271	PROM2_HUMAN	Homo sapiens prominin 2 (PROM2), transcript variant 2, mRNA.	141						apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						GACGAGTGAAGACAGAGCACA	0.677000														15			11		0	0	0.000673444	0	0
CCDC88B	283234	broad.mit.edu	37	11	64112076	64112076	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:64112076G>A	uc001nzy.3	+	13	2112	c.2063G>A	c.(2062-2064)gGg>gAg	p.G688E	CCDC88B_uc009ypo.2_Missense_Mutation_p.G685E|CCDC88B_uc001nzz.1_Missense_Mutation_p.G337E	NM_032251	NP_115627	A6NC98	CC88B_HUMAN	Homo sapiens coiled-coil domain containing 88B (CCDC88B), mRNA.	688					microtubule cytoskeleton organization	cytoplasm	microtubule binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						AGGCTGGAAGGGACGGTCAGG	0.647000														2			4		0	0	0.000602214	0	0
GPR158	57512	broad.mit.edu	37	10	25701229	25701229	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr10:25701229G>A	uc001isj.3	+	3	1222	c.1162G>A	c.(1162-1164)Gaa>Aaa	p.E388K		NM_020752	NP_065803	Q5T848	GP158_HUMAN	Homo sapiens G protein-coupled receptor 158 (GPR158), mRNA.	388						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.E388*(2)		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						TGTGTCAGAAGAAGCCTATGT	0.473000														97			38		0	0	0.00195071	0	0
KIAA1549	57670	broad.mit.edu	37	7	138603310	138603310	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:138603310G>A	uc011kql.2	-	1	1111	c.1062C>T	c.(1060-1062)ttC>ttT	p.F354F	KIAA1549_uc011kqj.2_Silent_p.F354F	NM_001164665	NP_001158137	Q9HCM3	K1549_HUMAN	Homo sapiens KIAA1549 (KIAA1549), transcript variant 2, mRNA.	354						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						GTGTCCTGCTGAATGCAAGGG	0.488000			O	BRAF	pilocytic astrocytoma									101			39		0	0	0.00148497	0	0
ELF4	2000	broad.mit.edu	37	X	129201362	129201362	+	Silent	SNP	G	A	A	rs139671354	byFrequency	TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chrX:129201362G>A	uc004evd.4	-	8	1711	c.1326C>T	c.(1324-1326)ctC>ctT	p.L442L	ELF4_uc004eve.4_Silent_p.L442L	NM_001421	NP_001412	Q99607	ELF4_HUMAN	Homo sapiens E74-like factor 4 (ets domain transcription factor) (ELF4), transcript variant 1, mRNA.	442					NK T cell proliferation|natural killer cell proliferation|positive regulation of transcription from RNA polymerase II promoter	PML body	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	22						TCTGGAGAACGAGCTGAGTGG	0.617000			T	ERG	AML									8			31		0	0	0.00283554	0	0
LRP6	4040	broad.mit.edu	37	12	12288149	12288150	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:12288149_12288150GG>TT	uc001rah.4	-	16	3834_3835	c.3692_3693CC>AA	c.(3691-3693)ccc>cAA	p.P1231Q	BCL2L14_uc001raf.1_Intron|LRP6_uc010shl.1_Missense_Mutation_p.P1231Q	NM_002336	NP_002327	O75581	LRP6_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 6 (LRP6), mRNA.	1231	EGF-like 4.				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)				CCAGGTGCATGGGGCAAGAACA	0.426000														422			10		0	0	6.4e-05	0	0
COL11A1	1301	broad.mit.edu	37	1	103388896	103388896	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:103388896G>C	uc001dum.3	-	46	4004	c.3686C>G	c.(3685-3687)cCc>cGc	p.P1229R	COL11A1_uc001duk.3_Missense_Mutation_p.P413R|COL11A1_uc001dul.3_Missense_Mutation_p.P1217R|COL11A1_uc001dun.3_Missense_Mutation_p.P1178R|COL11A1_uc009weh.3_Missense_Mutation_p.P1101R	NM_080629	NP_542196	P12107	COBA1_HUMAN	Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript variant B, mRNA.	1217	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)		ACTTACCATGGGACCAACATC	0.338000														15			4		0	0	0.00024832	0	0
ADAM2	2515	broad.mit.edu	37	8	39646227	39646227	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr8:39646227G>A	uc003xnj.3	-	7	678	c.603C>T	c.(601-603)gtC>gtT	p.V201V	ADAM2_uc003xnk.3_Silent_p.V182V|ADAM2_uc011lck.2_Silent_p.V201V|ADAM2_uc003xnl.3_Intron	NM_001464	NP_001455	Q99965	ADAM2_HUMAN	Homo sapiens ADAM metallopeptidase domain 2 (ADAM2), mRNA.	201	Peptidase M12B.				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	p.V201V(4)		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)		CTTTTTGAGCGACAACAGTTG	0.289000														35			9		0	0	0.000673444	0	0
TRHDE	29953	broad.mit.edu	37	12	73012704	73012704	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:73012704G>A	uc001sxa.3	+	12	2250	c.2220G>A	c.(2218-2220)gaG>gaA	p.E740E		NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN	Homo sapiens thyrotropin-releasing hormone degrading enzyme (TRHDE), mRNA.	740					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						TTCCTCTGGAGATTATCAGAT	0.388000														69			30		0	0	0.00178596	0	0
TNS4	84951	broad.mit.edu	37	17	38652320	38652320	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr17:38652320G>A	uc010cxb.3	-	1	522	c.358C>T	c.(358-360)Ccc>Tcc	p.P120S		NM_032865	NP_116254	Q8IZW8	TENS4_HUMAN	Homo sapiens tensin 4 (TNS4), mRNA.	120					apoptosis|protein localization	cytoplasm|cytoskeleton|focal adhesion	actin binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	30		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			GTCCCTGGGGGAAGCAGCTGG	0.577000														82			27		0	0	0.00106085	0	0
KIF13A	63971	broad.mit.edu	37	6	17799556	17799556	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:17799556C>T	uc003ncg.4	-	21	2891	c.2731G>A	c.(2731-2733)Gag>Aag	p.E911K	KIF13A_uc003ncf.3_Missense_Mutation_p.E911K|KIF13A_uc003nch.4_Missense_Mutation_p.E911K|KIF13A_uc003nci.4_Missense_Mutation_p.E911K	NM_022113	NP_071396	Q9H1H9	KI13A_HUMAN	Homo sapiens kinesin family member 13A (KIF13A), transcript variant 1, mRNA.	911					Golgi to plasma membrane protein transport|cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			GAAGGCACCTCGGGGTCCACC	0.527000														16			7		0	0	0.00198382	0	0
LRRC4C	57689	broad.mit.edu	37	11	40135976	40135976	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:40135976C>T	uc021qgf.1	-	0	1867	c.1867G>A	c.(1867-1869)Gaa>Aaa	p.E623K	LRRC4C_uc001mxc.1_Missense_Mutation_p.E619K|LRRC4C_uc001mxd.1_Missense_Mutation_p.E619K|LRRC4C_uc001mxa.1_Missense_Mutation_p.E623K|LRRC4C_uc001mxb.1_Missense_Mutation_p.E619K	NM_020929	NP_065980	Q9HCJ2	LRC4C_HUMAN	Homo sapiens leucine rich repeat containing 4C (LRRC4C), mRNA.	623					regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				AATAACGGTTCATGCACTGAA	0.328000														53			27		0	0	0.00106085	0	0
ZNF189	7743	broad.mit.edu	37	9	104170392	104170392	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr9:104170392C>T	uc004bbh.1	+	2	618	c.342C>T	c.(340-342)ttC>ttT	p.F114F	ZNF189_uc004bbg.1_Silent_p.F72F|ZNF189_uc004bbi.1_Silent_p.F100F|ZNF189_uc011lvk.1_Silent_p.F99F|ZNF189_uc022ble.1_Silent_p.F19F	NM_003452	NP_932094	O75820	ZN189_HUMAN	Homo sapiens zinc finger protein 189 (ZNF189), transcript variant 1, mRNA.	114					negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.F114L(2)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				GAGGGATCTTCCTATGGGAAA	0.378000														22			23		0	0	0.00229938	0	0
ESYT3	83850	broad.mit.edu	37	3	138192384	138192384	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:138192384G>A	uc003esk.3	+	18	2470	c.2244G>A	c.(2242-2244)ggG>ggA	p.G748G		NM_031913	NP_114119	A0FGR9	ESYT3_HUMAN	Homo sapiens extended synaptotagmin-like protein 3 (ESYT3), mRNA.	748						integral to membrane|plasma membrane				breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	25						ACAGAGGTGGGGACCTCAGGC	0.562000														194			72		0	0	0.00361006	0	0
LMBR1L	55716	broad.mit.edu	37	12	49497573	49497573	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:49497573C>T	uc001rth.4	-	5	801	c.459G>A	c.(457-459)gaG>gaA	p.E153E	LMBR1L_uc001rtg.4_Silent_p.E148E|LMBR1L_uc001rti.4_Silent_p.E153E|LMBR1L_uc001rtj.1_5'UTR|LMBR1L_uc009zld.1_Silent_p.E26E|LMBR1L_uc010smf.1_Non-coding_Transcript	NM_018113	NP_060583	Q6UX01	LMBRL_HUMAN	Homo sapiens limb region 1 homolog (mouse)-like (LMBR1L), mRNA.	153					endocytosis	integral to membrane|plasma membrane	receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						TCACCACTGTCTCATAGACCC	0.552000														106			37		0	0	0.00128727	0	0
DUSP27	92235	broad.mit.edu	37	1	167097246	167097246	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:167097246G>T	uc001geb.1	+	4	2894	c.2878G>T	c.(2878-2880)Ggg>Tgg	p.G960W		NM_001080426	NP_001073895	Q5VZP5	DUS27_HUMAN	Homo sapiens dual specificity phosphatase 27 (putative) (DUSP27), mRNA.	960	Ser-rich.				protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						AAGTTCCAGAGGGAAGTACAC	0.488000														26			10		7.48243e-07	2.34953e-06	0.000442599	1	0
CA8	767	broad.mit.edu	37	8	61178492	61178492	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr8:61178492G>A	uc003xtz.1	-	2	657	c.409C>T	c.(409-411)Ccc>Tcc	p.P137S	CA8_uc003xua.1_Missense_Mutation_p.P137S|CA8_uc003xub.3_Missense_Mutation_p.P137S	NM_004056	NP_004047	P35219	CAH8_HUMAN	Homo sapiens carbonic anhydrase VIII (CA8), mRNA.	137					one-carbon metabolic process		carbonate dehydratase activity|zinc ion binding			endometrium(2)|large_intestine(5)|lung(6)|prostate(2)|skin(1)	16		all_cancers(86;0.172)|all_epithelial(80;0.0383)|all_lung(136;0.0413)|Lung NSC(129;0.0474)				ACCTCCATGGGAAAAGCTTTG	0.358000														24			9		0	0	0.000978159	0	0
DSG3	1830	broad.mit.edu	37	18	29046704	29046704	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr18:29046704C>T	uc002kws.3	+	10	1732	c.1623C>T	c.(1621-1623)atC>atT	p.I541I		NM_001944	NP_001935	P32926	DSG3_HUMAN	Homo sapiens desmoglein 3 (DSG3), mRNA.	541					cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			TATGGAGTATCACAACCCTCA	0.423000														43			18		0	0	0.000958276	0	0
PSD4	23550	broad.mit.edu	37	2	113940076	113940076	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:113940076G>A	uc002tjc.3	+	1	226	c.43G>A	c.(43-45)Gaa>Aaa	p.E15K	PSD4_uc002tjd.3_5'UTR|PSD4_uc002tje.3_Missense_Mutation_p.E14K|PSD4_uc002tjf.3_5'Flank	NM_012455	NP_036587	Q8NDX1	PSD4_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing 4 (PSD4), mRNA.	15					regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CCAGCCCATGGAAATTCTCAA	0.592000														35			14		0	0	0.00244969	0	0
CLEC4M	10332	broad.mit.edu	37	19	7830535	7830536	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:7830535_7830536CC>TT	uc010dvt.3	+	3	344_345	c.226_227CC>TT	c.(226-228)ccc>TTc	p.P76F	CLEC4M_uc010xjv.1_Missense_Mutation_p.P48F|CLEC4M_uc002mhy.2_Missense_Mutation_p.P20F|CLEC4M_uc002mih.3_Missense_Mutation_p.P76F|CLEC4M_uc010xjw.2_Missense_Mutation_p.P55F|CLEC4M_uc010dvs.3_Missense_Mutation_p.P75F|CLEC4M_uc010xjx.2_Missense_Mutation_p.P48F|CLEC4M_uc002mhz.3_Missense_Mutation_p.P76F|CLEC4M_uc002mic.3_Missense_Mutation_p.P48F|CLEC4M_uc002mia.3_Missense_Mutation_p.P55F	NM_001144909	NP_001138381	Q9H2X3	CLC4M_HUMAN	Homo sapiens C-type lectin domain family 4, member M (CLEC4M), transcript variant 9, mRNA.	76					cell-cell recognition|endocytosis|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to plasma membrane	ICAM-3 receptor activity|mannose binding|metal ion binding|peptide antigen binding|virion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)	26						GTCCAAGGTCCCCAGCTCCCTA	0.500000														69			16		0	0	6.4e-05	0	0
PENK	5179	broad.mit.edu	37	8	57354177	57354177	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr8:57354177G>A	uc003xsz.2	-	1	539	c.458C>T	c.(457-459)tCc>tTc	p.S153F	PENK_uc003xta.3_Missense_Mutation_p.S153F	NM_006211	NP_006202	P01210	PENK_HUMAN	Homo sapiens proenkephalin (PENK), transcript variant 2, mRNA.	153					neuropeptide signaling pathway	extracellular region	neuropeptide hormone activity|opioid peptide activity	p.S153C(2)		central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	21		all_lung(136;0.229)	Epithelial(17;0.000873)|all cancers(17;0.0069)			CAGGTCTGAGGAATTGGCCAG	0.527000														55			34		0	0	0.00428921	0	0
GAL3ST3	89792	broad.mit.edu	37	11	65811142	65811142	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:65811142G>A	uc001ogv.3	-	1	292	c.132C>T	c.(130-132)ccC>ccT	p.P44P	GAL3ST3_uc001ogw.3_Silent_p.P44P	NM_033036	NP_149025	Q96A11	G3ST3_HUMAN	Homo sapiens galactose-3-O-sulfotransferase 3 (GAL3ST3), mRNA.	44					monosaccharide metabolic process|oligosaccharide metabolic process|poly-N-acetyllactosamine metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|carbohydrate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity			kidney(1)|lung(9)|ovary(2)|skin(2)	14						GGAACAGCTTGGGGTACCTGC	0.662000														3			5		0	0	0.00307968	0	0
MID2	11043	broad.mit.edu	37	X	107084242	107084242	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chrX:107084242C>T	uc004enl.3	+	1	920	c.347C>T	c.(346-348)tCc>tTc	p.S116F	MID2_uc004enk.3_Missense_Mutation_p.S116F	NM_012216	NP_036348	Q9UJV3	TRIM1_HUMAN	Homo sapiens midline 2 (MID2), transcript variant 1, mRNA.	116						centrosome|microtubule	ligase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)	19						GGGCCCAATTCCCCTAGTGAG	0.562000														5			7		0	0	0.00307968	0	0
LPPR1	54886	broad.mit.edu	37	9	104048497	104048497	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr9:104048497C>T	uc004bbb.3	+	3	763	c.364C>T	c.(364-366)Cga>Tga	p.R122*	LPPR1_uc011lvi.2_Nonsense_Mutation_p.R98*|LPPR1_uc004bbc.3_Nonsense_Mutation_p.R122*|LPPR1_uc010mtc.3_Nonsense_Mutation_p.R106*	NM_207299	NP_997182	Q8TBJ4	LPPR1_HUMAN	Homo sapiens lipid phosphate phosphatase-related protein type 1 (LPPR1), transcript variant 1, mRNA.	122						integral to membrane	catalytic activity	p.R122*(1)									CCCCTTACTTCGAAGGATCAT	0.368000														59			14		0	0	0.00244969	0	0
AMPD2	271	broad.mit.edu	37	1	110163683	110163683	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:110163683C>T	uc009wfh.1	+	1	590	c.48C>T	c.(46-48)ttC>ttT	p.F16F	AMPD2_uc009wfg.1_Intron|AMPD2_uc001dyb.1_Intron|AMPD2_uc001dyc.1_Silent_p.F16F|AMPD2_uc010ovr.1_5'UTR|AMPD2_uc010ovs.1_5'Flank	NM_004037	NP_004028	Q01433	AMPD2_HUMAN	Homo sapiens adenosine monophosphate deaminase 2 (AMPD2), transcript variant 1, mRNA.	16					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			breast(1)|large_intestine(3)|ovary(2)|skin(1)	7		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228)		GCCGCTGCTTCCTGCATCAGT	0.682000														12			4		0	0	0.00116845	0	0
FAT2	2196	broad.mit.edu	37	5	150911369	150911369	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:150911369G>A	uc003lue.4	-	12	9603	c.9590C>T	c.(9589-9591)cCg>cTg	p.P3197L	FAT2_uc003lud.4_5'UTR	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA.	3197	Cadherin 28.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CGTGGACAGCGGTATTGGGGT	0.667000														51			26		0	0	0.00375469	0	0
SPANXN3	139067	broad.mit.edu	37	X	142605203	142605203	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chrX:142605203G>A	uc004fbw.3	-	0	105	c.17C>T	c.(16-18)tCc>tTc	p.S6F		NM_001009609	NP_001009609	Q5MJ09	SPXN3_HUMAN	Homo sapiens SPANX family, member N3 (SPANXN3), mRNA.	6										endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|urinary_tract(1)	14	Acute lymphoblastic leukemia(192;6.56e-05)					ATTGGTGCTGGAAGTTGGCTG	0.453000														44			44		0	0	0.00361006	0	0
OR51A7	119687	broad.mit.edu	37	11	4929315	4929315	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:4929315C>T	uc010qyq.2	+	0	716	c.716C>T	c.(715-717)aCc>aTc	p.T239I		NM_001004749	NP_001004749	Q8NH64	O51A7_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily A, member 7 (OR51A7), mRNA.	239					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(7)|lung(13)|ovary(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCCCTAAATACCTGTGTCTCC	0.478000														120			46		0	0	0.00361006	0	0
HCN1	348980	broad.mit.edu	37	5	45396681	45396681	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:45396681G>A	uc003jok.3	-	3	1168	c.1143C>T	c.(1141-1143)gtC>gtT	p.V381V		NM_021072	NP_066550	O60741	HCN1_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 1 (HCN1), mRNA.	381						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						AGGTGGCCCCGACGATCATGC	0.507000														35			18		0	0	0.000958276	0	0
TRIM31	11074	broad.mit.edu	37	6	30076814	30076814	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:30076814G>A	uc003npg.1	-	4	866	c.756C>T	c.(754-756)gtC>gtT	p.V252V	TRIM31_uc003npi.3_Non-coding_Transcript	NM_007028	NP_008959	Q9BZY9	TRI31_HUMAN	Homo sapiens tripartite motif containing 31 (TRIM31), mRNA.	252						mitochondrion	ligase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(2)	15						TGCACAAGACGACTTTGATAT	0.488000														75			15		0	0	0.00074312	0	0
PLB1	151056	broad.mit.edu	37	2	28775804	28775804	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:28775804G>A	uc002rmb.2	+	16	1137	c.1093G>A	c.(1093-1095)Gga>Aga	p.G365R	PLB1_uc010ezj.2_Missense_Mutation_p.G376R|PLB1_uc002rmc.3_Missense_Mutation_p.G53R	NM_153021	NP_694566	Q6P1J6	PLB1_HUMAN	Homo sapiens phospholipase B1 (PLB1), transcript variant 1, mRNA.	365	4 X 308-326 AA approximate repeats.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					GGTAAGAGAAGGAGCGGAAAT	0.443000														102			40		0	0	0.00285205	0	0
IPO5	3843	broad.mit.edu	37	13	98645155	98645155	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr13:98645155G>A	uc001vne.3	+	9	913	c.733G>A	c.(733-735)Gac>Aac	p.D245N	IPO5_uc001vnf.1_Missense_Mutation_p.D227N|IPO5_uc010tik.1_Missense_Mutation_p.D102N|IPO5_uc010til.1_Missense_Mutation_p.D167N	NM_002271	NP_002262	O00410	IPO5_HUMAN	Homo sapiens importin 5 (IPO5), mRNA.	227					NLS-bearing substrate import into nucleus|interspecies interaction between organisms|ribosomal protein import into nucleus	cytoplasm|nuclear pore|nucleolus	GTPase inhibitor activity|Ran GTPase binding|protein transporter activity	p.N244D(1)		breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						GGCGGTAAATGACTCGTGCTA	0.403000														65			29		0	0	0.001512	0	0
OR1N1	138883	broad.mit.edu	37	9	125289425	125289425	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr9:125289425C>T	uc004bmn.1	-	0	148	c.148G>A	c.(148-150)Gac>Aac	p.D50N		NM_012363	NP_036495	Q8NGS0	OR1N1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily N, member 1 (OR1N1), mRNA.	50					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|large_intestine(2)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						AGGTGCAGGTCAGAGCCAATG	0.498000														40			30		0	0	0.0024448	0	0
DNAH5	1767	broad.mit.edu	37	5	13864741	13864741	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:13864741C>T	uc003jfd.2	-	27	4403	c.4361G>A	c.(4360-4362)cGa>cAa	p.R1454Q		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	1454	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.C1453*(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)					GGGAAGCTTTCGACATCTGTG	0.468000									Kartagener syndrome					48			25		0	0	0.00127121	0	0
MYO1A	4640	broad.mit.edu	37	12	57437649	57437649	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:57437649C>T	uc001smw.4	-	9	1123	c.883G>A	c.(883-885)Gat>Aat	p.D295N	MYO1A_uc010sqz.2_Missense_Mutation_p.D133N|MYO1A_uc009zpd.3_Missense_Mutation_p.D295N	NM_005379	NP_005370	Q9UBC5	MYO1A_HUMAN	Homo sapiens myosin IA (MYO1A), transcript variant 2, mRNA.	295	Myosin head-like.				sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						CCTCTCCCATCACGGATGCCA	0.527000														29			10		0	0	0.000673444	0	0
KIAA0319	9856	broad.mit.edu	37	6	24596214	24596214	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	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														49			12		0	0	0.000978159	0	0
CTAGE10P	220429	broad.mit.edu	37	13	50465120	50465120	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr13:50465120G>A	uc001vdk.2	+	0	576	c.394G>A	c.(394-396)Gaa>Aaa	p.E132K						Homo sapiens CTAGE family, member 10, pseudogene (CTAGE10P), non-coding RNA.																		GGCAAACTGTGAAAAGCTGAA	0.398000														180			53		0	0	0.00361006	0	0
ASXL2	55252	broad.mit.edu	37	2	25967139	25967139	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:25967139G>A	uc002rgs.2	-	11	2288	c.2067C>T	c.(2065-2067)acC>acT	p.T689T	ASXL2_uc002rgt.1_Silent_p.T429T	NM_018263	NP_060733	Q76L83	ASXL2_HUMAN	Homo sapiens additional sex combs like 2 (Drosophila) (ASXL2), mRNA.	689	Gly-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTCCTGGAATGGTCCCTCCAA	0.612000														46			23		0	0	0.00332997	0	0
NPC1L1	29881	broad.mit.edu	37	7	44579759	44579759	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:44579759G>A	uc003tlb.3	-	1	293	c.237C>T	c.(235-237)ccC>ccT	p.P79P	NPC1L1_uc011kbw.2_Silent_p.P79P|NPC1L1_uc003tlc.3_Silent_p.P79P|NPC1L1_uc003tld.3_Silent_p.P79P	NM_013389	NP_037521	Q9UHC9	NPCL1_HUMAN	Homo sapiens NPC1 (Niemann-Pick disease, type C1, gene)-like 1 (NPC1L1), transcript variant 1, mRNA.	79					cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	TGTAGAGGCGGGGGCAGATCT	0.602000														22			7		0	0	0.00198382	0	0
WDR72	256764	broad.mit.edu	37	15	53998203	53998203	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr15:53998203G>A	uc002acj.2	-	9	1065	c.1023C>T	c.(1021-1023)ttC>ttT	p.F341F	WDR72_uc010bfi.1_Silent_p.F341F	NM_182758	NP_877435	Q3MJ13	WDR72_HUMAN	Homo sapiens WD repeat domain 72 (WDR72), mRNA.	341								p.F341L(2)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		CTTCTCCAGAGAAAAGTACCT	0.398000														18			24		0	0	0.00278032	0	0
FGFR4	2264	broad.mit.edu	37	5	176519753	176519753	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:176519753C>T	uc003mfl.3	+	7	1192	c.1025C>T	c.(1024-1026)tCc>tTc	p.S342F	FGFR4_uc003mfm.3_Missense_Mutation_p.S342F|FGFR4_uc011dfu.2_Missense_Mutation_p.S342F|FGFR4_uc011dfw.1_Missense_Mutation_p.S342F|FGFR4_uc003mfo.3_Missense_Mutation_p.S342F	NM_002011	NP_998812	P22455	FGFR4_HUMAN	Homo sapiens fibroblast growth factor receptor 4 (FGFR4), transcript variant 1, mRNA.	342	Ig-like C2-type 3.				insulin receptor signaling pathway|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	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)		Palifermin(DB00039)	ATCGGCCTCTCCTACCAGTCT	0.637000										TSP Lung(9;0.080)				39			17		0	0	0.00400662	0	0
COBL	23242	broad.mit.edu	37	7	51095984	51095984	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:51095984G>A	uc003tps.3	-	10	3165	c.2980C>T	c.(2980-2982)Ccc>Tcc	p.P994S	COBL_uc003tpr.4_Missense_Mutation_p.P937S|COBL_uc011kcl.2_Missense_Mutation_p.P937S|COBL_uc003tpp.4_Missense_Mutation_p.P723S|COBL_uc003tpq.4_Missense_Mutation_p.P878S|COBL_uc003tpo.4_Missense_Mutation_p.P479S	NM_015198	NP_056013	O75128	COBL_HUMAN	Homo sapiens cordon-bleu homolog (mouse) (COBL), mRNA.	937										NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					TGGTTGTTGGGAGGAGTGACA	0.577000														27			14		0	0	0.00400662	0	0
AKR1B10	57016	broad.mit.edu	37	7	134215542	134215542	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:134215542G>A	uc003vrr.3	+	1	534	c.214G>A	c.(214-216)Gac>Aac	p.D72N		NM_020299	NP_064695	O60218	AK1BA_HUMAN	Homo sapiens aldo-keto reductase family 1, member B10 (aldose reductase) (AKR1B10), mRNA.	72					cellular aldehyde metabolic process|digestion|steroid metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|protein binding			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(9)|skin(5)	20						GAAGCGGGAGGACCTGTTCAT	0.517000														69			26		0	0	0.00127121	0	0
LONRF2	164832	broad.mit.edu	37	2	100919445	100919445	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:100919445C>T	uc002tal.4	-	2	1499	c.859G>A	c.(859-861)Gaa>Aaa	p.E287K	LONRF2_uc010yvs.2_Non-coding_Transcript	NM_198461	NP_940863	Q1L5Z9	LONF2_HUMAN	Homo sapiens LON peptidase N-terminal domain and ring finger 2 (LONRF2), mRNA.	287					proteolysis		ATP-dependent peptidase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	34						TAGAGAAATTCCTTTAACACT	0.393000														64			24		0	0	0.00278032	0	0
SMARCAD1	56916	broad.mit.edu	37	4	95204435	95204435	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr4:95204435C>T	uc003htb.4	+	21	3073	c.2896C>T	c.(2896-2898)Cat>Tat	p.H966Y	SMARCAD1_uc003htc.4_Missense_Mutation_p.H964Y|SMARCAD1_uc003htd.4_Missense_Mutation_p.H966Y|SMARCAD1_uc010ila.3_Missense_Mutation_p.H829Y|SMARCAD1_uc011cdw.2_Missense_Mutation_p.H534Y	NM_001128430	NP_001121902	Q9H4L7	SMRCD_HUMAN	Homo sapiens SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1 (SMARCAD1), transcript variant 2, mRNA.	964	Helicase C-terminal.				chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination	nuclear matrix	ATP binding|DNA binding|helicase activity			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)		AGATAGATGCCATAGAGTAGG	0.338000														45			11		0	0	0.00185496	0	0
SLC30A3	7781	broad.mit.edu	37	2	27481726	27481727	+	Missense_Mutation	DNP	CC	TT	TT	rs141176570		TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:27481726_27481727CC>TT	uc002rjk.3	-	1	357_358	c.171_172GG>AA	c.(169-174)agggac>agAAac	p.D58N	SLC30A3_uc002rjj.3_5'Flank|SLC30A3_uc010ylh.2_Missense_Mutation_p.D53N	NM_003459	NP_003450	Q99726	ZNT3_HUMAN	Homo sapiens solute carrier family 30 (zinc transporter), member 3 (SLC30A3), mRNA.	58					regulation of sequestering of zinc ion	cell junction|integral to plasma membrane|late endosome|membrane fraction|synaptic vesicle membrane	zinc transporting ATPase activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|pancreas(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGAAGGGGGTCCCTGTGGCAGT	0.609000														34			9		0	0	6.4e-05	0	0
FABP9	646480	broad.mit.edu	37	8	82373741	82373741	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr8:82373741C>A	uc011lfo.2	-	0	18	c.18G>T	c.(16-18)ttG>ttT	p.L6F		NM_001080526	NP_001073995	Q0Z7S8	FABP9_HUMAN	Homo sapiens fatty acid binding protein 9, testis (FABP9), mRNA.	6							lipid binding|transporter activity			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	6			Epithelial(68;0.186)			TCCAGGTTCCCAAGAAGGGCT	0.403000														140			6		0.00198382	0.00617672	0.00198382	1	0
ALDH16A1	126133	broad.mit.edu	37	19	49965880	49965880	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:49965880G>A	uc002pnt.3	+	7	1082	c.966G>A	c.(964-966)cgG>cgA	p.R322R	ALDH16A1_uc010yar.2_Silent_p.R271R|ALDH16A1_uc010yas.2_Silent_p.R157R|ALDH16A1_uc010yat.2_Silent_p.R159R	NM_153329	NP_699160	Q8IZ83	A16A1_HUMAN	Homo sapiens aldehyde dehydrogenase 16 family, member A1 (ALDH16A1), transcript variant 1, mRNA.	322							oxidoreductase activity|protein binding			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|skin(2)|urinary_tract(3)	20		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251)		CCATGAGACGGCTGCAGGAGC	0.652000														59			27		0	0	0.00178596	0	0
KAT6A	7994	broad.mit.edu	37	8	41790402	41790402	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr8:41790402G>A	uc010lxb.3	-	17	5880	c.5336C>T	c.(5335-5337)tCc>tTc	p.S1779F	KAT6A_uc010lxc.3_Missense_Mutation_p.S1779F|KAT6A_uc003xon.4_Missense_Mutation_p.S1779F	NM_001099412	NP_006757	Q92794	MYST3_HUMAN	Homo sapiens K(lysine) acetyltransferase 6A (KAT6A), transcript variant 1, mRNA.	1779					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										GGTTGCATAGGAAGTCACAGC	0.537000														115			46		0	0	0.00361006	0	0
OR4B1	119765	broad.mit.edu	37	11	48238470	48238470	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:48238470G>A	uc010rhs.2	+	0	109	c.109G>A	c.(109-111)Gtg>Atg	p.V37M		NM_001005470	NP_001005470	Q8NGF8	OR4B1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily B, member 1 (OR4B1), mRNA.	37					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						CCTTGCCACGGTGGTGGGCAA	0.502000														87			40		0	0	0.00222228	0	0
NRXN2	9379	broad.mit.edu	37	11	64416209	64416209	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:64416209C>T	uc021qkw.1	-	15	3742	c.3280G>A	c.(3280-3282)Gat>Aat	p.D1094N	NRXN2_uc021qkx.1_Missense_Mutation_p.D1054N|NRXN2_uc001oas.3_Missense_Mutation_p.D1054N|NRXN2_uc001oaq.3_Missense_Mutation_p.D761N	NM_015080	NP_055895	Q9P2S2	NRX2A_HUMAN	Homo sapiens neurexin 2 (NRXN2), transcript variant alpha-1, mRNA.	1094					cell adhesion	integral to membrane	metal ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						CACTCACCATCACAGCCCCTC	0.647000														15			17		0	0	0.000958276	0	0
KRT24	192666	broad.mit.edu	37	17	38859395	38859395	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr17:38859395C>T	uc002hvd.3	-	0	608	c.551G>A	c.(550-552)gGa>gAa	p.G184E		NM_019016	NP_061889	Q2M2I5	K1C24_HUMAN	Homo sapiens keratin 24 (KRT24), mRNA.	184	Linker 1.|Rod.					cytoplasm|intermediate filament	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00526)				TCCACCGTCTCCAGACCCAGG	0.438000														86			84		0	0	0.00361006	0	0
UXT	8409	broad.mit.edu	37	X	47516985	47516985	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chrX:47516985G>A	uc004dim.3	-	2	487	c.270C>T	c.(268-270)ttC>ttT	p.F90F	UXT_uc022bvp.1_Non-coding_Transcript|UXT_uc004din.3_Silent_p.F78F|LOC100133957_uc011mls.1_5'Flank|LOC100133957_uc011mlt.1_5'Flank	NM_153477	NP_705582	Q9UBK9	UXT_HUMAN	Homo sapiens ubiquitously-expressed, prefoldin-like chaperone (UXT), transcript variant 1, mRNA.	78					centrosome organization|mitochondrion transport along microtubule|protein folding	centrosome|nucleus|prefoldin complex	beta-tubulin binding|microtubule binding|unfolded protein binding			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(1)	6						CTGTGTCAACGAAGAAGTTAC	0.488000														2			6		0	0	0.000274275	0	0
MCC	4163	broad.mit.edu	37	5	112384869	112384869	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:112384869G>A	uc003kql.4	-	15	2992	c.2576C>T	c.(2575-2577)tCc>tTc	p.S859F	MCC_uc003kqj.4_Missense_Mutation_p.S669F|MCC_uc003kqk.4_Non-coding_Transcript|MCC_uc011cwb.1_Missense_Mutation_p.S669F	NM_001085377	NP_001078846	P23508	CRCM_HUMAN	Homo sapiens mutated in colorectal cancers (MCC), transcript variant 1, mRNA.	669					Wnt receptor signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity			endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		CTCCACCTCGGACTTCAGGTG	0.617000														35			15		0	0	0.00316338	0	0
SGCZ	137868	broad.mit.edu	37	8	13959988	13959988	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr8:13959988G>A	uc003wwq.3	-	6	1301	c.641C>T	c.(640-642)tCc>tTc	p.S214F	SGCZ_uc010lss.3_Missense_Mutation_p.S167F	NM_139167	NP_631906	Q96LD1	SGCZ_HUMAN	Homo sapiens sarcoglycan, zeta (SGCZ), mRNA.	201					cytoskeleton organization	cytoplasm|cytoskeleton|integral to membrane|sarcolemma				NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	47				all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)		CATGATCAAGGATCTGGTGGG	0.413000														24			8		0	0	0.00307968	0	0
SEC22B	9554	broad.mit.edu	37	1	145112502	145112502	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:145112502G>A	uc001eml.1	+	4	613	c.473G>A	c.(472-474)cGa>cAa	p.R158Q	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron	NM_004892	NP_004883	O75396	SC22B_HUMAN	Homo sapiens SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene) (SEC22B), mRNA.	159	v-SNARE coiled-coil homology.				ER to Golgi vesicle-mediated transport|protein transport	ER-Golgi intermediate compartment membrane|Golgi membrane|endoplasmic reticulum membrane|integral to membrane|melanosome	protein binding										GTGTTACAACGAGGAGAAGCA	0.413000														131			9		0	0	0.000442599	0	0
SYNPO2	171024	broad.mit.edu	37	4	119951736	119951736	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr4:119951736C>T	uc010inb.3	+	3	2002	c.1806C>T	c.(1804-1806)ccC>ccT	p.P602P	SYNPO2_uc010ina.3_Silent_p.P602P|SYNPO2_uc003icm.4_Silent_p.P602P|SYNPO2_uc011cgh.2_Intron|SYNPO2_uc010inc.3_Silent_p.P530P|SYNPO2_uc021xrd.1_5'Flank	NM_133477	NP_597734	Q9UMS6	SYNP2_HUMAN	Homo sapiens synaptopodin 2 (SYNPO2), transcript variant 1, mRNA.	602	Pro-rich.					Z disc|nucleus	14-3-3 protein binding|actin binding|muscle alpha-actinin binding	p.T601S(1)		breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						CAGCTACCCCCTTCTCGCCAA	0.567000														63			31		0	0	0.00283554	0	0
FAM113B	91523	broad.mit.edu	37	12	47629900	47629900	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:47629900C>T	uc001rpq.3	+	1	1579	c.1054C>T	c.(1054-1056)Caa>Taa	p.Q352*	FAM113B_uc001rpn.3_Nonsense_Mutation_p.Q352*|FAM113B_uc021qxi.1_Nonsense_Mutation_p.Q352*	NM_138371	NP_612380	Q96HM7	F113B_HUMAN	Homo sapiens family with sequence similarity 113, member B (FAM113B), mRNA.	352	Pro-rich.						hydrolase activity			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(10)	35	Renal(347;0.138)|Lung SC(27;0.192)					CCAGTCGGATCAATTCTATTG	0.527000														77			37		0	0	0.00111076	0	0
DNAH17	8632	broad.mit.edu	37	17	76503578	76503578	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr17:76503578C>T	uc010dhp.2	-	27	4671	c.4546G>A	c.(4546-4548)Gac>Aac	p.D1516N		NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.									p.R1516H(2)		NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CGCTGGGAGTCCCCCGGGAGC	0.582000														19			20		0	0	0.00229938	0	0
SLC10A6	345274	broad.mit.edu	37	4	87744979	87744979	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr4:87744979C>T	uc003hqd.2	-	5	1144	c.996G>A	c.(994-996)acG>acA	p.T332T		NM_197965	NP_932069	Q3KNW5	SOAT_HUMAN	Homo sapiens solute carrier family 10 (sodium/bile acid cotransporter family), member 6 (SLC10A6), mRNA.	332						integral to membrane|plasma membrane	bile acid:sodium symporter activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	9		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)		OV - Ovarian serous cystadenocarcinoma(123;0.00099)		TCGATTTCCTCGTATGGCAGA	0.463000														68			51		0	0	0.00361006	0	0
ARHGAP5	394	broad.mit.edu	37	14	32561514	32561514	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr14:32561514G>A	uc001wrl.3	+	1	1878	c.1639G>A	c.(1639-1641)Gga>Aga	p.G547R	ARHGAP5_uc001wrm.3_Missense_Mutation_p.G547R|ARHGAP5_uc001wrn.3_Missense_Mutation_p.G547R|ARHGAP5_uc001wro.3_Intron|ARHGAP5_uc001wrp.3_Intron	NM_001173	NP_001025226	Q13017	RHG05_HUMAN	Homo sapiens Rho GTPase activating protein 5 (ARHGAP5), transcript variant 2, mRNA.	547					Rho protein signal transduction|cell adhesion	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		TAAGCATATAGGATTTGTTTA	0.353000														19			18		0	0	0.00152264	0	0
OR51L1	119682	broad.mit.edu	37	11	5021082	5021082	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:5021082C>T	uc010qyu.2	+	0	870	c.870C>T	c.(868-870)aaC>aaT	p.N290N		NM_001004755	NP_001004755	Q8NGJ5	O51L1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily L, member 1 (OR51L1), mRNA.	290					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(19)|skin(2)|stomach(1)	31		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		CAGTCCTTAACCCTATTGTCT	0.453000														38			18		0	0	0.00152264	0	0
HSD11B1	3290	broad.mit.edu	37	1	209879240	209879240	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:209879240G>A	uc001hhj.3	+	2	305	c.173G>A	c.(172-174)gGa>gAa	p.G58E	HSD11B1_uc021pin.1_Missense_Mutation_p.G58E|HSD11B1_uc001hhk.3_Missense_Mutation_p.G58E	NM_181755	NP_861420	P28845	DHI1_HUMAN	Homo sapiens hydroxysteroid (11-beta) dehydrogenase 1 (HSD11B1), transcript variant 2, mRNA.	58					glucocorticoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	11-beta-hydroxysteroid dehydrogenase|11-beta-hydroxysteroid dehydrogenase (NADP+) activity|binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(9)	16				OV - Ovarian serous cystadenocarcinoma(81;1.04e-55)|Epithelial(68;1.57e-52)|all cancers(67;1.83e-46)|Colorectal(1306;0.115)	NADH(DB00157)	GCGAAGATGGGAGCCCATGTG	0.502000														62			10		0	0	0.000442599	0	0
MYH7B	57644	broad.mit.edu	37	20	33589751	33589751	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr20:33589751G>A	uc002xbi.2	+	44	6120	c.5803_splice	c.e44-1	p.E1935_splice		NM_020884	NP_065935	A7E2Y1	MYH7B_HUMAN	Homo sapiens myosin, heavy chain 7B, cardiac muscle, beta (MYH7B), mRNA.	1893						membrane|myosin filament	ATP binding|actin binding|motor activity			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			GTGCCCCCAGGAGCAGCAGGC	0.612000														46			19		0	0	0.00332997	0	0
KIR2DL2	3803	broad.mit.edu	37	GL000209.1	62457	62457	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chrGL000209.1:62457C>T	uc002quc.4	+	4	867	c.677C>T	c.(676-678)cCt>cTt	p.P226L	KIR2DL2_uc002qtt.2_Intron|KIR2DL2_uc002qtv.3_Missense_Mutation_p.P221L|KIR2DL2_uc010yic.2_Intron|KIR2DL2_uc002qty.3_Intron|KIR2DL2_uc010evd.3_Missense_Mutation_p.P265L|KIR2DL2_uc002qud.4_Intron|KIR2DL2_uc002quh.4_Missense_Mutation_p.P170L|KIR2DL2_uc002que.4_Intron|KIR2DL2_uc002quf.4_Intron|KIR2DL2_uc010eve.3_Intron|KIR2DL2_uc002qug.4_Missense_Mutation_p.P226L|KIR2DL2_uc010evf.3_Intron	NM_002255	NP_002246	P43627	KI2L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4 (KIR2DL4), transcript variant 1, mRNA.	229					regulation of immune response	integral to membrane|plasma membrane	receptor activity										AGTAGTTGGCCTTCACCCACT	0.478000														181			92		0	0	0.00361006	0	0
PHLDB2	90102	broad.mit.edu	37	3	111638006	111638006	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:111638006G>A	uc010hqa.3	+	3	2218	c.1807G>A	c.(1807-1809)Gaa>Aaa	p.E603K	PHLDB2_uc003dyc.3_Missense_Mutation_p.E630K|PHLDB2_uc003dyd.3_Missense_Mutation_p.E603K|PHLDB2_uc003dyg.3_Missense_Mutation_p.E603K|PHLDB2_uc003dyh.3_Missense_Mutation_p.E603K|PHLDB2_uc003dyi.3_Missense_Mutation_p.E189K	NM_001134438	NP_001127911	Q86SQ0	PHLB2_HUMAN	Homo sapiens pleckstrin homology-like domain, family B, member 2 (PHLDB2), transcript variant 1, mRNA.	603						cytoplasm|intermediate filament cytoskeleton|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						CAACCTCGAGGAACTTAAGCA	0.408000														68			41		0	0	0.00361006	0	0
PLCH1	23007	broad.mit.edu	37	3	155314091	155314091	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:155314091G>A	uc021xge.1	-	1	397	c.120C>T	c.(118-120)cgC>cgT	p.R40R	PLCH1_uc021xgd.1_Silent_p.R40R|PLCH1_uc021xgf.1_Silent_p.R22R	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	Homo sapiens phospholipase C, eta 1 (PLCH1), transcript variant 1, mRNA.	40	PH.				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			GGTAAAAGAGGCGGACAAGCC	0.468000														91			39		0	0	0.0025221	0	0
TRIM50	135892	broad.mit.edu	37	7	72732989	72732989	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:72732989C>T	uc003txy.1	-	3	759	c.558G>A	c.(556-558)gtG>gtA	p.V186V	FKBP6_uc003twz.2_Intron|TRIM50_uc010lbd.1_Silent_p.V186V|TRIM50_uc003txz.1_Silent_p.V186V	NM_178125	NP_835226	Q86XT4	TRI50_HUMAN	Homo sapiens tripartite motif containing 50 (TRIM50), mRNA.	186						cytoplasm|intracellular membrane-bounded organelle	ligase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)	20						TCTCCTCATCCACCAGGTGGT	0.662000														66			24		0	0	0.001512	0	0
DNAH8	1769	broad.mit.edu	37	6	38862525	38862525	+	Nonsense_Mutation	SNP	C	T	T	rs149070832	byFrequency	TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:38862525C>T	uc021yzh.1	+	58	8741	c.8632C>T	c.(8632-8634)Cga>Tga	p.R2878*	DNAH8_uc003ooe.2_Nonsense_Mutation_p.R2661*	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CTTCAATCTTCGAGATCTTTC	0.393000														36			16		0	0	0.000566183	0	0
SNIP1	79753	broad.mit.edu	37	1	38006221	38006221	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:38006221C>T	uc001cbi.3	-	2	536	c.463G>A	c.(463-465)Gag>Aag	p.E155K	SNIP1_uc010oid.2_Intron	NM_024700	NP_078976	Q8TAD8	SNIP1_HUMAN	Homo sapiens Smad nuclear interacting protein 1 (SNIP1), mRNA.	155	Arg-rich.				production of miRNAs involved in gene silencing by miRNA	nucleus	protein binding			breast(2)|cervix(2)|endometrium(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	25		Myeloproliferative disorder(586;0.0393)				CCAGGCCTCTCGTTAGACGTT	0.587000														102			46		0	0	0.00361006	0	0
MRGPRX2	117194	broad.mit.edu	37	11	19077592	19077592	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:19077592G>A	uc001mph.3	-	1	446	c.358C>T	c.(358-360)Ctg>Ttg	p.L120L	MRGPRX2_uc021qer.1_Silent_p.L120L	NM_054030	NP_473371	Q96LB1	MRGX2_HUMAN	Homo sapiens MAS-related GPR, member X2 (MRGPRX2), mRNA.	120					sensory perception of pain|sleep	plasma membrane	G-protein coupled receptor activity|neuropeptide binding			NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	15						ACGGTGCTCAGCATGCTCAGG	0.587000														55			18		0	0	0.00074312	0	0
ADH1C	126	broad.mit.edu	37	4	100263983	100263983	+	RNA	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr4:100263983G>A	uc021xqi.1	-	5		c.882C>T				NM_000669		P00326	ADH1G_HUMAN	Homo sapiens alcohol dehydrogenase 1C (class I), gamma polypeptide (ADH1C), mRNA.						ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|zinc ion binding								OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	Fomepizole(DB01213)|NADH(DB00157)	GACTTCAAACGAAAAATCCAC	0.463000														210			101		0	0	0.00361006	0	0
FGGY	55277	broad.mit.edu	37	1	59805663	59805663	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:59805663C>T	uc009wac.3	+	2	447	c.235C>T	c.(235-237)Cga>Tga	p.R79*	FGGY_uc001czg.2_Intron|FGGY_uc001czh.2_Non-coding_Transcript|FGGY_uc001czi.4_Nonsense_Mutation_p.R79*|FGGY_uc001czl.4_Intron	NM_001113411	NP_001106882	Q96C11	FGGY_HUMAN	Homo sapiens FGGY carbohydrate kinase domain containing (FGGY), transcript variant 1, mRNA.	79					carbohydrate metabolic process|cell death|neuron homeostasis		kinase activity|phosphotransferase activity, alcohol group as acceptor			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(7;7.36e-05)					AAACCAAATTCGAGGACTTGG	0.363000														24			25		0	0	0.00178596	0	0
ACE2	59272	broad.mit.edu	37	X	15605946	15605946	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chrX:15605946C>T	uc004cxa.1	-	5	900	c.732G>A	c.(730-732)gtG>gtA	p.V244V	ACE2_uc004cxb.2_Silent_p.V244V	NM_021804	NP_068576	Q9BYF1	ACE2_HUMAN	Homo sapiens angiotensin I converting enzyme (peptidyl-dipeptidase A) 2 (ACE2), mRNA.	244					angiotensin-mediated drinking behavior|proteolysis|receptor biosynthetic process|regulation of cell proliferation|virion attachment, binding of host cell surface receptor	cell surface|extracellular space|integral to membrane|membrane raft|plasma membrane	carboxypeptidase activity|glycoprotein binding|metallopeptidase activity|peptidyl-dipeptidase activity|viral receptor activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	32	Hepatocellular(33;0.183)				Moexipril(DB00691)	ACTTTGCCCTCACATAGGCAT	0.398000														18			33		0	0	0.00128727	0	0
KRT9	3857	broad.mit.edu	37	17	39725762	39725762	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr17:39725762G>A	uc002hxe.4	-	3	1026	c.960C>T	c.(958-960)acC>acT	p.T320T	JUP_uc010wfs.2_Intron	NM_000226	NP_000217	P35527	K1C9_HUMAN	Homo sapiens keratin 9 (KRT9), mRNA.	320	Linker 12.|Rod.				intermediate filament organization|skin development		protein binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Breast(137;0.000307)				TGAGGGTCTTGGTGAGATCTT	0.498000														54			40		0	0	0.00170553	0	0
NME1-NME2	654364	broad.mit.edu	37	17	49233063	49233063	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr17:49233063C>T	uc002iti.2	+	1	179	c.48C>T	c.(46-48)gtC>gtT	p.V16V	NME1-NME2_uc010dbx.2_Silent_p.V41V|NME1-NME2_uc002ith.2_Silent_p.V41V|NME1-NME2_uc002itk.3_Silent_p.V41V|NME1-NME2_uc002itj.3_Silent_p.V16V	NM_000269	NP_000260	P22392	NDKB_HUMAN	Homo sapiens non-metastatic cells 1, protein (NM23A) expressed in (NME1), transcript variant 2, mRNA.	16	Interaction with AKAP13.				CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process|cell adhesion|negative regulation of apoptosis|nucleobase, nucleoside and nucleotide interconversion|positive regulation of epithelial cell proliferation|positive regulation of keratinocyte differentiation	cytosol|lamellipodium|nucleus|ruffle	ATP binding|DNA binding|metal ion binding|nucleoside diphosphate kinase activity|protein binding|protein histidine kinase activity|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	6			BRCA - Breast invasive adenocarcinoma(22;1.54e-08)			CAGATGGGGTCCAGCGGGGTC	0.488000														49			14		0	0	0.00316338	0	0
BTBD11	121551	broad.mit.edu	37	12	108006557	108006557	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:108006557G>A	uc001tmk.1	+	6	2331	c.1810_splice	c.e6-1	p.G604_splice	BTBD11_uc009zut.1_Splice_Site_p.G604_splice|BTBD11_uc001tmj.3_Splice_Site_p.G604_splice|BTBD11_uc001tml.1_Splice_Site_p.G141_splice	NM_001018072	NP_001018082	A6QL63	BTBDB_HUMAN	Homo sapiens BTB (POZ) domain containing 11 (BTBD11), transcript variant a, mRNA.	604						integral to membrane	DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						CTCACCACAGGGCATGACTCC	0.522000														10			5		0	0	0.00198382	0	0
ZMYM2	7750	broad.mit.edu	37	13	20659964	20659964	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr13:20659964C>T	uc001umr.3	+	25	4242	c.3944C>T	c.(3943-3945)cCa>cTa	p.P1315L	ZMYM2_uc001ums.3_Missense_Mutation_p.P1315L|ZMYM2_uc021rgy.1_Missense_Mutation_p.P1315L|ZMYM2_uc001umt.3_Missense_Mutation_p.P1315L|ZMYM2_uc001umv.3_Missense_Mutation_p.P695L|ZMYM2_uc001umw.3_Missense_Mutation_p.P768L	NM_003453	NP_932072	Q9UBW7	ZMYM2_HUMAN	Homo sapiens zinc finger, MYM-type 2 (ZMYM2), transcript variant 1, mRNA.	1315					regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	ubiquitin conjugating enzyme binding|zinc ion binding			large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)		CTCCAAAGTCCACAGAATCTT	0.378000														38			12		0	0	0.00136819	0	0
OR2C3	81472	broad.mit.edu	37	1	247695664	247695664	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:247695664G>A	uc021pmb.1	-	0	150	c.150C>T	c.(148-150)tcC>tcT	p.S50S	C1orf150_uc009xgw.3_Intron|C1orf150_uc001ida.4_Intron|C1orf150_uc001idb.4_Intron|C1orf150_uc009xgx.3_Intron|OR2C3_uc001idd.3_5'Flank|OR2C3_uc009xgy.3_Silent_p.S50S	NM_198074	NP_932340	Q8N628	OR2C3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily C, member 3 (OR2C3), mRNA.	50					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			CATCTGTATGGGAGACCAGAA	0.493000														40			23		0	0	0.00395357	0	0
FSIP2	401024	broad.mit.edu	37	2	186671695	186671695	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:186671695G>A	uc002upl.3	+	16	17929	c.17929G>A	c.(17929-17931)Gat>Aat	p.D5977N	FSIP2_uc002upm.3_Intron	NM_173651	NP_775922			Homo sapiens fibrous sheath interacting protein 2 (FSIP2), mRNA.											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						AAAATCTGCAGATAAAATGCC	0.383000														46			18		0	0	0.000958276	0	0
TSNARE1	203062	broad.mit.edu	37	8	143412303	143412303	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr8:143412303G>A	uc003ywj.3	-	4	891	c.852C>T	c.(850-852)tcC>tcT	p.S284S	TSNARE1_uc011lju.2_Silent_p.S284S|TSNARE1_uc003ywk.3_Silent_p.S284S|TSNARE1_uc003ywl.4_Silent_p.S65S	NM_145003	NP_659440	Q96NA8	TSNA1_HUMAN	Homo sapiens t-SNARE domain containing 1 (TSNARE1), mRNA.	284					vesicle-mediated transport	integral to membrane		p.S284S(2)		breast(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(6)|ovary(2)|stomach(2)|urinary_tract(1)	20	all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					GTGTCCCTAAGGACTGAAGGC	0.627000														32			9		0	0	0.00136819	0	0
ITGA8	8516	broad.mit.edu	37	10	15573138	15573138	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr10:15573138G>A	uc001ioc.1	-	27	2893	c.2893C>T	c.(2893-2895)Ccc>Tcc	p.P965S	ITGA8_uc010qcb.1_Missense_Mutation_p.P950S	NM_003638	NP_003629	P53708	ITA8_HUMAN	Homo sapiens integrin, alpha 8 (ITGA8), mRNA.	965					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity	p.P965L(1)		NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						AGAGCATAGGGATCATTTTTT	0.338000														60			21		0	0	0.00188189	0	0
OR10J1	26476	broad.mit.edu	37	1	159410279	159410280	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:159410279_159410280GG>AA	uc010piv.2	+	0	768_769	c.731_732GG>AA	c.(730-732)cgg>cAA	p.R244Q	BC038194_uc001fts.4_Intron	NM_012351	NP_036483	P30954	O10J1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily J, member 1 (OR10J1), mRNA.	244					sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1)	25	all_hematologic(112;0.0429)					GTTGAGGGCCGGAAGAAGGCTT	0.475000														47			24		0	0	6.4e-05	0	0
OR5V1	81696	broad.mit.edu	37	6	29323773	29323773	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:29323773G>A	uc011dlo.2	-	0	282	c.200C>T	c.(199-201)gCc>gTc	p.A67V		NM_030876	NP_110503	Q9UGF6	OR5V1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily V, member 1 (OR5V1), mRNA.	67					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GTCAATAAAGGCCAAGTTCCC	0.408000														189			47		0	0	0.00361006	0	0
MGAM	8972	broad.mit.edu	37	7	141727450	141727450	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:141727450G>A	uc003vwy.3	+	9	1190	c.1136G>A	c.(1135-1137)gGa>gAa	p.G379E		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	379	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TGGGCGCTTGGATTTCACCTC	0.438000														48			12		0	0	0.00400662	0	0
BLK	640	broad.mit.edu	37	8	11406605	11406606	+	Nonsense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr8:11406605_11406606CC>TT	uc003wty.3	+	4	923_924	c.342_343CC>TT	c.(340-345)gcccga>gcTTga	p.R115*		NM_001715	NP_001706	P51451	BLK_HUMAN	Homo sapiens B lymphoid tyrosine kinase (BLK), mRNA.	115	SH3.				intracellular protein kinase cascade|positive regulation of insulin secretion		ATP binding|non-membrane spanning protein tyrosine kinase activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(4)|stomach(1)	27			STAD - Stomach adenocarcinoma(15;0.00391)	COAD - Colon adenocarcinoma(149;0.207)		ACTTTGTGGCCCGAGTGGAGAG	0.574000														12			5		0	0	6.4e-05	0	0
IL36A	27179	broad.mit.edu	37	2	113765561	113765561	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:113765561C>T	uc010yxr.2	+	3	417	c.417C>T	c.(415-417)atC>atT	p.I139I		NM_014440	NP_055255	Q9UHA7	IL36A_HUMAN	Homo sapiens interleukin 36, alpha (IL36A), mRNA.	139					immune response|inflammatory response	extracellular space	cytokine activity|interleukin-1 receptor binding			large_intestine(1)|lung(3)|ovary(2)|skin(1)|stomach(2)	9						GTCCTCTCATCCTTACCCAAG	0.507000														44			13		0	0	0.00185496	0	0
BTN1A1	696	broad.mit.edu	37	6	26508836	26508836	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:26508836G>A	uc003nif.4	+	6	1072	c.1015G>A	c.(1015-1017)Gag>Aag	p.E339K		NM_001732	NP_001723	Q13410	BT1A1_HUMAN	Homo sapiens butyrophilin, subfamily 1, member A1 (BTN1A1), mRNA.	339	B30.2/SPRY.					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						TGAGAAAACAGAGAGATTTGA	0.517000														163			37		0	0	0.00428921	0	0
MICALCL	84953	broad.mit.edu	37	11	12316171	12316171	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:12316171C>T	uc001mkg.1	+	2	1484	c.1193C>T	c.(1192-1194)tCc>tTc	p.S398F		NM_032867	NP_116256	Q6ZW33	MICLK_HUMAN	Homo sapiens MICAL C-terminal like (MICALCL), mRNA.	398					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	mitogen-activated protein kinase binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		TCACTTTTTTCCTCCCTCAGA	0.453000														104			37		0	0	0.00170553	0	0
DSPP	1834	broad.mit.edu	37	4	88533960	88533960	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr4:88533960G>A	uc003hqu.3	+	3	742	c.622G>A	c.(622-624)Ggt>Agt	p.G208S		NM_014208	NP_055023	Q9NZW4	DSPP_HUMAN	Homo sapiens dentin sialophosphoprotein (DSPP), mRNA.	208					biomineral tissue development|ossification|skeletal system development	proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent			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)		TAGAAACGAGGGTAATACAAG	0.438000														23			5		0	0	0.00307968	0	0
SLC15A3	51296	broad.mit.edu	37	11	60705472	60705472	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:60705472G>A	uc001nqn.2	-	6	1695	c.1461C>T	c.(1459-1461)gcC>gcT	p.A487A	SLC15A3_uc001nqo.2_Missense_Mutation_p.P431L	NM_016582	NP_057666	Q8IY34	S15A3_HUMAN	Homo sapiens solute carrier family 15, member 3 (SLC15A3), transcript variant 1, mRNA.	487					oligopeptide transport|protein transport	integral to membrane|lysosomal membrane	peptide:hydrogen symporter activity			central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)	17						TGGAGCGCGGGGCCTCTGAGT	0.657000														7			8		0	0	0.00307968	0	0
CCDC87	55231	broad.mit.edu	37	11	66359695	66359695	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:66359695G>A	uc001oiq.4	-	0	860	c.792C>T	c.(790-792)ttC>ttT	p.F264F	CCS_uc001oir.3_5'Flank	NM_018219	NP_060689	Q9NVE4	CCD87_HUMAN	Homo sapiens coiled-coil domain containing 87 (CCDC87), mRNA.	264										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						GCAGCCAGTGGAAAGGCTTTT	0.532000														19			16		0	0	0.00400662	0	0
TNNT3	7140	broad.mit.edu	37	11	1956059	1956059	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:1956059G>A	uc001luu.4	+	14	803	c.591_splice	c.e14-1	p.R197_splice	TNNT3_uc001lun.2_Splice_Site_p.R93_splice|TNNT3_uc001luw.4_Splice_Site_p.R189_splice|TNNT3_uc001luo.4_Splice_Site_p.R189_splice|TNNT3_uc001lup.4_Splice_Site_p.R195_splice|TNNT3_uc001luq.4_Splice_Site_p.R189_splice|TNNT3_uc001lur.3_Splice_Site_p.R189_splice|TNNT3_uc010qxf.2_Splice_Site_p.R195_splice|TNNT3_uc010qxg.2_Splice_Site_p.R129_splice	NM_006757	NP_006748	P45378	TNNT3_HUMAN	Homo sapiens troponin T type 3 (skeletal, fast) (TNNT3), transcript variant 1, mRNA.	208					muscle filament sliding|regulation of ATPase activity|regulation of striated muscle contraction|skeletal muscle contraction	cytosol|troponin complex	calcium-dependent protein binding|tropomyosin binding|troponin C binding|troponin I binding			breast(2)|endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(4)|stomach(1)	19		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00253)|Lung(200;0.0333)|LUSC - Lung squamous cell carcinoma(625;0.0826)		TCTGCCCCAGGGACAAGGCCA	0.602000														114			48		0	0	0.00361006	0	0
BCAN	63827	broad.mit.edu	37	1	156617345	156617346	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:156617345_156617346CC>TT	uc001fpp.3	+	3	848_849	c.512_513CC>TT	c.(511-513)tcc>tTT	p.S171F	BCAN_uc001fpo.3_Missense_Mutation_p.S171F	NM_021948	NP_068767	Q96GW7	PGCB_HUMAN	Homo sapiens brevican (BCAN), transcript variant 1, mRNA.	171	Link 1.				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TATGCTTTCTCCTTTTCTGGGG	0.644000														20			7		0	0	6.4e-05	0	0
ZNF572	137209	broad.mit.edu	37	8	125989878	125989878	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr8:125989878C>T	uc003yrr.3	+	2	1523	c.1368C>T	c.(1366-1368)atC>atT	p.I456I		NM_152412	NP_689625	Q7Z3I7	ZN572_HUMAN	Homo sapiens zinc finger protein 572 (ZNF572), mRNA.	456					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	31	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)			TTAACCTTATCAGGCACCGGA	0.458000										HNSCC(60;0.17)				119			44		0	0	0.00361006	0	0
MYO18B	84700	broad.mit.edu	37	22	26348362	26348362	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr22:26348362C>T	uc003abz.1	+	37	6193	c.5943C>T	c.(5941-5943)ttC>ttT	p.F1981F	MYO18B_uc003aca.1_Silent_p.F1862F|MYO18B_uc010guy.1_Silent_p.F1863F|MYO18B_uc010guz.1_Silent_p.F1861F|MYO18B_uc011aka.1_Silent_p.F1135F|MYO18B_uc011akb.1_Silent_p.F1494F|MYO18B_uc010gva.1_5'Flank	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	1981	Tail.					nucleus|sarcomere|unconventional myosin complex	ATP binding|actin binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						AGACAGAGTTCCAGAAGGTGC	0.507000														30			5		0	0	0.00116845	0	0
FCER1A	2205	broad.mit.edu	37	1	159275794	159275794	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:159275794G>A	uc001ftq.3	+	4	445	c.348G>A	c.(346-348)caG>caA	p.Q116Q		NM_002001	NP_001992	P12319	FCERA_HUMAN	Homo sapiens Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide (FCER1A), mRNA.	116	Ig-like 2.					integral to plasma membrane				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(19)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_hematologic(112;0.0429)				Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043)	TGCTCCTTCAGGCCTCTGCTG	0.458000														22			11		0	0	0.00136819	0	0
UGT1A1	54658	broad.mit.edu	37	2	234591056	234591056	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:234591056C>T	uc002vut.3	+	0	473	c.473C>T	c.(472-474)gCc>gTc	p.A158V	UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Intron|UGT1A1_uc002vur.3_Intron|UGT1A1_uc010zmw.1_Intron|UGT1A1_uc002vus.3_Intron|UGT1A1_uc010zmx.1_Missense_Mutation_p.A158V	NM_019077	NP_061950	P22309	UD11_HUMAN	Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A7 (UGT1A7), mRNA.	161					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	TTAATTGTTGCCAAATATTTC	0.438000														162			62		0	0	0.00361006	0	0
FCRL5	83416	broad.mit.edu	37	1	157514669	157514669	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:157514669C>T	uc009wsm.3	-	3	669	c.511G>A	c.(511-513)Gaa>Aaa	p.E171K	FCRL5_uc001fqu.3_Missense_Mutation_p.E171K|FCRL5_uc010phv.1_Missense_Mutation_p.E171K|FCRL5_uc010phw.1_Missense_Mutation_p.E86K|FCRL5_uc001fqv.1_Missense_Mutation_p.E171K|FCRL5_uc010phx.2_5'UTR	NM_001195388	NP_001182317	Q96RD9	FCRL5_HUMAN	Homo sapiens Fc receptor-like 5 (FCRL5), transcript variant 2, mRNA.	171						integral to membrane|plasma membrane	receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				CAACAACTTTCCTTATATCCA	0.393000														83			54		0	0	0.00361006	0	0
ZNF90	7643	broad.mit.edu	37	19	20229881	20229881	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:20229881G>A	uc002nor.2	+	3	1657	c.1518G>A	c.(1516-1518)gaG>gaA	p.E506E	ZNF90_uc021url.1_Intron	NM_007138	NP_009069	Q03938	ZNF90_HUMAN	Homo sapiens zinc finger protein 90 (ZNF90), mRNA.	506						Golgi apparatus|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|lung(2)|ovary(1)|skin(1)	5						ACAGTGGAGAGAATCCCTACA	0.403000														15			5		0	0	0.000602214	0	0
GRIA1	2890	broad.mit.edu	37	5	153078433	153078433	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:153078433C>T	uc011dcy.2	+	9	1309	c.1282C>T	c.(1282-1284)Cct>Tct	p.P428S	GRIA1_uc003lva.4_Missense_Mutation_p.P418S|GRIA1_uc003luy.4_Missense_Mutation_p.P418S|GRIA1_uc003luz.4_Missense_Mutation_p.P323S|GRIA1_uc011dcv.2_Non-coding_Transcript|GRIA1_uc011dcw.2_Missense_Mutation_p.P338S|GRIA1_uc011dcx.2_Missense_Mutation_p.P349S|GRIA1_uc011dcz.2_Missense_Mutation_p.P428S|GRIA1_uc010jia.1_Missense_Mutation_p.P398S	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	Homo sapiens glutamate receptor, ionotropic, AMPA 1 (GRIA1), transcript variant 2, mRNA.	418					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	PDZ domain binding|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	p.N427H(1)		NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CCAGGAAGATCCTTATGTGAT	0.488000														41			23		0	0	0.00395357	0	0
ASAP1	50807	broad.mit.edu	37	8	131124539	131124539	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr8:131124539G>A	uc003yta.2	-	23	2430	c.2202C>T	c.(2200-2202)ccC>ccT	p.P734P	ASAP1_uc003ysz.2_Silent_p.P545P|ASAP1_uc011liw.2_Silent_p.P727P	NM_018482	NP_060952	Q9ULH1	ASAP1_HUMAN	Homo sapiens ArfGAP with SH3 domain, ankyrin repeat and PH domain 1 (ASAP1), transcript variant 1, mRNA.	734					cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|SH3 domain binding|cytoskeletal adaptor activity|zinc ion binding			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						TCTGAGGTCTGGGTGAGCGCT	0.547000														27			15		0	0	0.00244969	0	0
MTFR1	9650	broad.mit.edu	37	8	66619433	66619433	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr8:66619433C>T	uc011lep.2	+	5	918	c.706C>T	c.(706-708)Cca>Tca	p.P236S	MTFR1_uc003xvm.2_Missense_Mutation_p.P236S|MTFR1_uc003xvn.2_Missense_Mutation_p.P203S	NM_001145839	NP_001139311	Q15390	MTFR1_HUMAN	Homo sapiens mitochondrial fission regulator 1 (MTFR1), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.	236						mitochondrion|plasma membrane				cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|pancreas(1)|urinary_tract(1)	11			Epithelial(68;0.0526)|BRCA - Breast invasive adenocarcinoma(89;0.156)|all cancers(69;0.171)|OV - Ovarian serous cystadenocarcinoma(28;0.194)			ACCTGAAATGCCAAATATGCT	0.388000														55			18		0	0	0.000958276	0	0
MYH14	79784	broad.mit.edu	37	19	50795520	50795520	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:50795520C>T	uc010enu.1	+	36	5177	c.5130C>T	c.(5128-5130)gcC>gcT	p.A1710A	MYH14_uc002prq.1_Silent_p.A1677A|MYH14_uc002prr.1_Silent_p.A1669A|MYH14_uc010ycb.2_Silent_p.A20A|MYH14_uc002prs.1_Silent_p.A20A	NM_001145809	NP_001139281	Q7Z406	MYH14_HUMAN	Homo sapiens myosin, heavy chain 14, non-muscle (MYH14), transcript variant 3, mRNA.	1669					axon guidance|regulation of cell shape	myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		CCACCCAGGCCCAGATGAAGG	0.632000														3			7		0	0	0.000274275	0	0
PGLYRP3	114771	broad.mit.edu	37	1	153271692	153271692	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:153271692C>T	uc001fbn.1	-	5	797	c.744G>A	c.(742-744)caG>caA	p.Q248Q		NM_052891	NP_443123	Q96LB9	PGRP3_HUMAN	Homo sapiens peptidoglycan recognition protein 3 (PGLYRP3), mRNA.	248					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding	p.Q248*(1)		breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(1)|liver(1)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	28	all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CGCCACCATCCTGGCCCACCA	0.453000														19			10		0	0	0.000673444	0	0
PROSER1	80209	broad.mit.edu	37	13	39611365	39611365	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr13:39611365G>A	uc001uwy.3	-	0	888	c.15C>T	c.(13-15)tcC>tcT	p.S5S	PROSER1_uc001uwz.3_Silent_p.S5S|NHLRC3_uc001uxc.3_5'Flank|NHLRC3_uc001uxd.3_5'Flank|NHLRC3_uc001uxe.3_5'Flank	NM_025138	NP_079414	Q86XN7	CM023_HUMAN	Homo sapiens proline and serine rich 1 (PROSER1), transcript variant 1, mRNA.	5																	CCATTTCAAAGGACTTTTTAT	0.368000														34			17		0	0	0.00121646	0	0
PPBP	5473	broad.mit.edu	37	4	74853053	74853054	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr4:74853053_74853054GG>AA	uc003hhj.3	-	2	409_410	c.322_323CC>TT	c.(322-324)cca>TTa	p.P108L		NM_002704	NP_002695	P02775	CXCL7_HUMAN	Homo sapiens pro-platelet basic protein (chemokine (C-X-C motif) ligand 7) (PPBP), mRNA.	108					chemotaxis|defense response to bacterium|immune response|platelet activation|platelet degranulation|positive regulation of cell division	extracellular space|platelet alpha granule lumen	chemokine activity|glucose transmembrane transporter activity|growth factor activity			breast(1)|central_nervous_system(1)|lung(1)|ovary(2)|skin(2)|stomach(1)|urinary_tract(2)	10	Breast(15;0.00136)		all cancers(17;0.00273)|Lung(101;0.196)			GGGAGCATCTGGGTCCAGGCAG	0.426000														53			25		0	0	6.4e-05	0	0
ASIC5	51802	broad.mit.edu	37	4	156775465	156775465	+	Splice_Site	SNP	A	G	G			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr4:156775465A>G	uc003ipe.1	-	3	395	c.348_splice	c.e3-1	p.R116_splice		NM_017419	NP_059115	Q9NY37	ACCN5_HUMAN	Homo sapiens amiloride-sensitive cation channel 5, intestinal (ACCN5), mRNA.	116						integral to membrane|plasma membrane											TCTGTTTGGAACCTATTAGCA	0.343000														48			15		0	0	0.00316338	0	0
ADAMTS2	9509	broad.mit.edu	37	5	178699945	178699945	+	Missense_Mutation	SNP	G	A	A	rs146217716		TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:178699945G>A	uc003mjw.3	-	2	757	c.655C>T	c.(655-657)Cct>Tct	p.P219S	ADAMTS2_uc011dgm.2_Missense_Mutation_p.P219S	NM_014244	NP_055059	O95450	ATS2_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 2 (ADAMTS2), transcript variant 1, mRNA.	219					collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.P219S(2)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		CCGAGAGGAGGGGACGTGGGT	0.672000														24			11		0	0	0.000978159	0	0
GABRA1	2554	broad.mit.edu	37	5	161281227	161281227	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:161281227G>A	uc010jiw.3	+	3	606	c.138G>A	c.(136-138)ttG>ttA	p.L46L	GABRA1_uc010jix.3_Silent_p.L46L|GABRA1_uc010jiy.3_Silent_p.L46L|GABRA1_uc003lyx.4_Silent_p.L46L|GABRA1_uc010jiz.3_Silent_p.L46L|GABRA1_uc010jja.3_Silent_p.L46L|GABRA1_uc010jjb.3_Silent_p.L46L	NM_000806	NP_001121120	P14867	GBRA1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 1 (GABRA1), transcript variant 1, mRNA.	46					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)	CCAGGATTTTGGACAGACTCC	0.363000														95			35		0	0	0.00128727	0	0
PDE1A	5136	broad.mit.edu	37	2	183104855	183104855	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:183104855G>A	uc002uos.3	-	3	464	c.380C>T	c.(379-381)gCt>gTt	p.A127V	PDE1A_uc010zfp.1_Missense_Mutation_p.A23V|PDE1A_uc002uoq.1_Missense_Mutation_p.A127V|PDE1A_uc010zfq.1_Missense_Mutation_p.A127V|PDE1A_uc002uor.3_Missense_Mutation_p.A111V|PDE1A_uc002uou.3_Missense_Mutation_p.A93V	NM_001003683	NP_001003683	P54750	PDE1A_HUMAN	Homo sapiens phosphodiesterase 1A, calmodulin-dependent (PDE1A), transcript variant 2, mRNA.	127					activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)			AAAAATTCCAGCTTGAACAGC	0.403000														93			31		0	0	0.00327116	0	0
METTL24	728464	broad.mit.edu	37	6	110620142	110620142	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:110620142C>T	uc010kdu.1	-	3	769	c.769G>A	c.(769-771)Gaa>Aaa	p.E257K	METTL24_uc003pub.2_Missense_Mutation_p.E60K	NM_001123364	NP_001116836	Q5JXM2	CF186_HUMAN	Homo sapiens chromosome 6 open reading frame 186 (C6orf186), mRNA.	257						extracellular region											TGTCCAAATTCATTCAAAATG	0.398000														32			14		0	0	0.00185496	0	0
TRRAP	8295	broad.mit.edu	37	7	98575844	98575844	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:98575844C>T	uc003upp.3	+	55	8584	c.8375C>T	c.(8374-8376)tCc>tTc	p.S2792F	TRRAP_uc011kis.2_Missense_Mutation_p.S2774F|TRRAP_uc003upr.3_Missense_Mutation_p.S2491F	NM_001244580	NP_001231509	Q9Y4A5	TRRAP_HUMAN	Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA.	2792	FAT.				histone H2A acetylation|histone H4 acetylation|histone deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GCACAAGAATCCTATGAAAAG	0.338000														87			39		0	0	0.00195071	0	0
PER3	8863	broad.mit.edu	37	1	7886711	7886711	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:7886711C>T	uc001aop.3	+	15	2353	c.2129C>T	c.(2128-2130)cCc>cTc	p.P710L	PER3_uc009vmg.1_Missense_Mutation_p.P710L|PER3_uc009vmh.1_Missense_Mutation_p.P703L|PER3_uc001aoo.3_Missense_Mutation_p.P702L|PER3_uc010nzw.2_Missense_Mutation_p.P391L	NM_016831	NP_058515	P56645	PER3_HUMAN	Homo sapiens period homolog 3 (Drosophila) (PER3), mRNA.	702	CSNK1E binding domain (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		CTGTCATCACCCTACAGCTCC	0.388000														17			9		0	0	0.000978159	0	0
SIGLEC17P	284367	broad.mit.edu	37	19	51671589	51671589	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:51671589T>C	uc010ycv.2	+	2	738	c.728T>C	c.(727-729)gTg>gCg	p.V243A	SIGLEC17P_uc010ycu.2_Missense_Mutation_p.V243A|SIGLEC17P_uc002pvy.4_Missense_Mutation_p.V243A|SIGLEC17P_uc002pvz.4_Missense_Mutation_p.V243A					Homo sapiens sialic acid binding Ig-like lectin, pseudogene 3 (SIGLECP3), non-coding RNA.																		GGAGCTGGTGTGACCACGGAG	0.627000														12			8		0	0	0.000274275	0	0
MKS1	54903	broad.mit.edu	37	17	56293523	56293523	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr17:56293523C>T	uc002ivr.2	-	3	418	c.343G>A	c.(343-345)Gag>Aag	p.E115K	MKS1_uc010wnq.2_5'UTR|MKS1_uc021uam.1_Missense_Mutation_p.E105K	NM_017777	NP_060247	Q9NXB0	MKS1_HUMAN	Homo sapiens Meckel syndrome, type 1 (MKS1), transcript variant 1, mRNA.	115					cilium assembly	centrosome|cilium|microtubule basal body	protein binding			endometrium(5)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						CCCGAATTCTCCAGCTTCAGG	0.428000														107			31		0	0	0.0024448	0	0
MME	4311	broad.mit.edu	37	3	154859807	154859807	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:154859807G>A	uc010hvr.1	+	10	1196	c.985G>A	c.(985-987)Gaa>Aaa	p.E329K	MME_uc003fab.1_Missense_Mutation_p.E329K|MME_uc003fac.1_Missense_Mutation_p.E329K|MME_uc003fad.1_Missense_Mutation_p.E329K|MME_uc003fae.1_Missense_Mutation_p.E329K	NM_007289	NP_009220	P08473	NEP_HUMAN	Homo sapiens membrane metallo-endopeptidase (MME), transcript variant 2b, mRNA.	329					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)	TTTCACAAATGAAATCATGTC	0.343000														56			21		0	0	0.00121646	0	0
SYNGAP1	8831	broad.mit.edu	37	6	33406562	33406562	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:33406562C>T	uc011dri.2	+	9	1737	c.1542C>T	c.(1540-1542)atC>atT	p.I514I	SYNGAP1_uc003oeo.1_Silent_p.I499I|SYNGAP1_uc010juy.3_Silent_p.I499I|SYNGAP1_uc010juz.3_Silent_p.I226I	NM_006772	NP_006763	Q96PV0	SYGP1_HUMAN	Homo sapiens synaptic Ras GTPase activating protein 1 (SYNGAP1), mRNA.	514	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						GAGAATTCATCCGTGCTCTGT	0.557000														134			34		0	0	0.000953801	0	0
RAVER2	55225	broad.mit.edu	37	1	65296648	65296648	+	Nonsense_Mutation	SNP	A	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:65296648A>T	uc001dbt.2	+	9	1740	c.1693A>T	c.(1693-1695)Aaa>Taa	p.K565*	RAVER2_uc001dbs.2_Nonsense_Mutation_p.K673*|RAVER2_uc010opb.2_Nonsense_Mutation_p.K398*	NM_018211	NP_060681	Q9HCJ3	RAVR2_HUMAN	Homo sapiens ribonucleoprotein, PTB-binding 2 (RAVER2), mRNA.	686						cytoplasm|nucleus	RNA binding|nucleotide binding	p.R565W(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						AACTTACTTAAAAAAGAAGCG	0.438000														69			69		0	0	0.00361006	0	0
COL6A6	131873	broad.mit.edu	37	3	130287097	130287097	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:130287097G>A	uc010htl.3	+	4	2081	c.2050G>A	c.(2050-2052)Gac>Aac	p.D684N		NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	Homo sapiens collagen, type VI, alpha 6 (COL6A6), mRNA.	684	Nonhelical region.|VWFA 4.				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						GTCCCAAAGCGACATTTCAAA	0.478000														125			54		0	0	0.00361006	0	0
SPOCD1	90853	broad.mit.edu	37	1	32265028	32265028	+	Silent	SNP	A	G	G			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:32265028A>G	uc001bts.1	-	6	1900	c.1842T>C	c.(1840-1842)cgT>cgC	p.R614R	SPOCD1_uc001btu.3_Silent_p.R614R|SPOCD1_uc001btv.3_Silent_p.R107R|SPOCD1_uc021oks.1_5'Flank|SPOCD1_uc001btw.1_5'Flank	NM_144569	NP_653170	Q6ZMY3	SPOC1_HUMAN	Homo sapiens SPOC domain containing 1 (SPOCD1), mRNA.	614	TFIIS central.				transcription, DNA-dependent					NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		CCTGCATGGAACGGACAACAG	0.652000														16			4		0	0	0.00307968	0	0
LAMA3	3909	broad.mit.edu	37	18	21426417	21426417	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr18:21426417C>T	uc002kuq.3	+	30	3962	c.3876C>T	c.(3874-3876)atC>atT	p.I1292I	LAMA3_uc002kur.3_Silent_p.I1292I	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	Homo sapiens laminin, alpha 3 (LAMA3), transcript variant 1, mRNA.	1292	Domain III B.|Laminin EGF-like 9.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	p.I1292I(2)		NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CCAACGTCATCGGGCGGCAGT	0.657000														15			6		0	0	0.00198382	0	0
STEAP4	79689	broad.mit.edu	37	7	87912423	87912423	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:87912423G>A	uc022agz.1	-	3	740	c.517C>T	c.(517-519)Ctt>Ttt	p.L173F	STEAP4_uc003ujs.3_Missense_Mutation_p.L173F|STEAP4_uc010lek.3_Intron	NM_001205315	NP_001192244	Q687X5	STEA4_HUMAN	Homo sapiens STEAP family member 4 (STEAP4), transcript variant 2, mRNA.	173					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)					GTAAGTCCAAGATTACGAACA	0.388000														40			13		0	0	0.00244969	0	0
POM121	9883	broad.mit.edu	37	7	72413897	72413898	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:72413897_72413898CC>TT	uc003twk.2	+	10	3365_3366	c.3365_3366CC>TT	c.(3364-3366)acc>aTT	p.T1122I	POM121_uc003twj.3_Missense_Mutation_p.T857I|POM121_uc010lam.1_Missense_Mutation_p.T857I	NM_172020	NP_742017	Q96HA1	P121A_HUMAN	Homo sapiens POM121 membrane glycoprotein (POM121), mRNA.	1122	Pore side (Potential).				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				GGCTCCAGCACCACCACCGGAG	0.639000														10			8		0	0	6.4e-05	0	0
C12orf40	283461	broad.mit.edu	37	12	40085867	40085867	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:40085867G>A	uc001rmc.3	+	10	1531	c.1364G>A	c.(1363-1365)gGa>gAa	p.G455E	C12orf40_uc009zjv.1_Non-coding_Transcript	NM_001031748	NP_001026918	Q86WS4	CL040_HUMAN	Homo sapiens chromosome 12 open reading frame 40 (C12orf40), mRNA.	455										breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						ATGGAAGAAGGAGGAATATAT	0.254000														23			13		0	0	0.000566183	0	0
TUBB1	81027	broad.mit.edu	37	20	57599799	57599799	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr20:57599799G>A	uc002yak.3	+	3	1586	c.1317G>A	c.(1315-1317)acG>acA	p.T439T		NM_030773	NP_110400	Q9H4B7	TBB1_HUMAN	Homo sapiens tubulin, beta 1 class VI (TUBB1), mRNA.	439					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|skin(2)	16	all_lung(29;0.00711)		Colorectal(105;0.109)		Colchicine(DB01394)|Docetaxel(DB01248)|Paclitaxel(DB01229)|Vindesine(DB00309)	AAGAGGTCACGGAGGAGGCAG	0.443000														19			29		0	0	0.00127121	0	0
SP140L	93349	broad.mit.edu	37	2	231253340	231253340	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:231253340G>A	uc010fxm.1	+	9	942	c.851G>A	c.(850-852)cGa>cAa	p.R284Q	SP140L_uc010fxo.1_Missense_Mutation_p.R91Q	NM_138402	NP_612411	Q9H930	LY10L_HUMAN	Homo sapiens SP140 nuclear body protein-like (SP140L), mRNA.	284						nucleus	DNA binding|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|skin(1)	20						AAAAGAGTCCGATCAAGAGGT	0.353000														19			8		0	0	0.000274275	0	0
GJA10	84694	broad.mit.edu	37	6	90605712	90605712	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:90605712G>A	uc011eaa.2	+	0	1525	c.1525G>A	c.(1525-1527)Ggg>Agg	p.G509R		NM_032602	NP_115991	Q969M2	CXA10_HUMAN	Homo sapiens gap junction protein, alpha 10, 62kDa (GJA10), mRNA.	509					synaptic transmission	connexon complex|integral to membrane	gap junction channel activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|skin(3)|urinary_tract(1)	37		all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)		BRCA - Breast invasive adenocarcinoma(108;0.0915)		CTTTCTTCCTGGGGTGTGTAT	0.403000														53			16		0	0	0.00400662	0	0
ARMC4	55130	broad.mit.edu	37	10	28149605	28149605	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr10:28149605G>A	uc009xky.3	-	18	3068	c.2970C>T	c.(2968-2970)ctC>ctT	p.L990L	ARMC4_uc010qds.2_Silent_p.L515L|ARMC4_uc010qdt.2_Silent_p.L682L|ARMC4_uc001itz.3_Silent_p.L990L	NM_018076	NP_060546	Q5T2S8	ARMC4_HUMAN	Homo sapiens armadillo repeat containing 4 (ARMC4), mRNA.	990							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						CGTCTTCTGAGAGTTGGTACA	0.483000														61			27		0	0	0.00106085	0	0
C3	718	broad.mit.edu	37	19	6682022	6682022	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:6682022C>T	uc002mfm.3	-	34	4342	c.4280G>A	c.(4279-4281)aGa>aAa	p.R1427K		NM_000064	NP_000055	P01024	CO3_HUMAN	Homo sapiens complement component 3 (C3), mRNA.	1427	Properdin-binding.				G-protein coupled receptor protein signaling pathway|complement activation, alternative pathway|complement activation, classical pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding	p.D1426E(1)		breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		GGAGATGTATCTGTCAACACC	0.552000														61			30		0	0	0.0024448	0	0
MYO3B	140469	broad.mit.edu	37	2	171092559	171092559	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:171092559C>T	uc002ufy.3	+	6	805	c.662C>T	c.(661-663)tCc>tTc	p.S221F	MYO3B_uc002ufv.3_Missense_Mutation_p.S208F|MYO3B_uc010fqb.1_Missense_Mutation_p.S221F|MYO3B_uc002ufz.3_Missense_Mutation_p.S221F|MYO3B_uc002ufw.3_Non-coding_Transcript|MYO3B_uc002ufx.3_Non-coding_Transcript|MYO3B_uc002uga.3_Missense_Mutation_p.S208F	NM_138995	NP_620482	Q8WXR4	MYO3B_HUMAN	Homo sapiens myosin IIIB (MYO3B), transcript variant 2, mRNA.	221	Protein kinase.				response to stimulus|visual perception	cytoplasm|myosin complex	ATP binding|actin binding|motor activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						GACGTCTGGTCCTTGGGGATC	0.493000											OREG0014376	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		66			25		0	0	0.000878237	0	0
CACNA1G	8913	broad.mit.edu	37	17	48678463	48678463	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr17:48678463G>A	uc002irk.1	+	18	4215	c.3843G>A	c.(3841-3843)gtG>gtA	p.V1281V	CACNA1G_uc002iri.1_Silent_p.V1281V|CACNA1G_uc002irj.1_Silent_p.V1258V|CACNA1G_uc002irl.1_Silent_p.V1258V|CACNA1G_uc002irm.1_Silent_p.V1258V|CACNA1G_uc002irn.1_Silent_p.V1258V|CACNA1G_uc002iro.1_Silent_p.V1258V|CACNA1G_uc002irp.1_Silent_p.V1281V|CACNA1G_uc002irq.1_Silent_p.V1258V|CACNA1G_uc002irr.1_Silent_p.V1281V|CACNA1G_uc002irs.1_Silent_p.V1281V|CACNA1G_uc002irt.1_Silent_p.V1281V|CACNA1G_uc002iru.1_Silent_p.V1258V|CACNA1G_uc002irv.1_Silent_p.V1281V|CACNA1G_uc002irw.1_Silent_p.V1258V|CACNA1G_uc002irx.1_Silent_p.V1194V|CACNA1G_uc002iry.1_Silent_p.V1194V|CACNA1G_uc002isg.1_Silent_p.V1194V|CACNA1G_uc002ish.1_Silent_p.V1194V|CACNA1G_uc002isi.1_Silent_p.V1171V|CACNA1G_uc002irz.1_Silent_p.V1194V|CACNA1G_uc002isa.1_Silent_p.V1194V|CACNA1G_uc002isd.1_Silent_p.V1194V|CACNA1G_uc002isb.1_Silent_p.V1194V|CACNA1G_uc002isc.1_Silent_p.V1194V|CACNA1G_uc002ise.1_Silent_p.V1194V|CACNA1G_uc002isf.1_Silent_p.V1194V|CACNA1G_uc002isj.3_Silent_p.V5V	NM_018896	NP_061496	O43497	CAC1G_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1G subunit (CACNA1G), transcript variant 1, mRNA.	1281					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	TCGACCACGTGGTCCTTGTCA	0.612000														94			20		0	0	0.00332997	0	0
MYO7B	4648	broad.mit.edu	37	2	128370139	128370139	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:128370139A>G	uc002top.3	+	24	3334	c.3281A>G	c.(3280-3282)cAc>cGc	p.H1094R		NM_001080527	NP_001073996	Q6PIF6	MYO7B_HUMAN	Homo sapiens myosin VIIB (MYO7B), mRNA.	1094	MyTH4 1.					apical plasma membrane|myosin complex	ATP binding|actin binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		GAGAAGGTGCACTTCATCGTG	0.607000														6			4		0	0	0.00024832	0	0
ARHGAP36	158763	broad.mit.edu	37	X	130220398	130220398	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chrX:130220398C>T	uc004evz.3	+	9	1722	c.1377C>T	c.(1375-1377)atC>atT	p.I459I	ARHGAP36_uc004ewa.3_Silent_p.I447I|ARHGAP36_uc004ewb.3_Silent_p.I428I|ARHGAP36_uc004ewc.3_Silent_p.I323I	NM_144967	NP_659404	Q6ZRI8	RHG36_HUMAN	Homo sapiens Rho GTPase activating protein 36 (ARHGAP36), mRNA.	459					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						TGAGGAAGATCCAGTGAGTGT	0.468000														15			32		0	0	0.00327116	0	0
PPP3R2	5535	broad.mit.edu	37	9	104356900	104356900	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr9:104356900C>T	uc004bbr.3	-	0	384	c.313G>A	c.(313-315)Gat>Aat	p.D105N	GRIN3A_uc004bbp.2_Intron|GRIN3A_uc004bbq.1_Intron|PPP3R2_uc010mtf.1_Non-coding_Transcript	NM_147180	NP_671709	Q96LZ3	CANB2_HUMAN	Homo sapiens protein phosphatase 3, regulatory subunit B, beta (PPP3R2), mRNA.	102	EF-hand 3.						calcium ion binding			breast(1)|endometrium(2)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22		Acute lymphoblastic leukemia(62;0.0527)			Cyclosporine(DB00091)	CCATCTTTATCCATGTCGTAA	0.532000														60			54		0	0	0.00361006	0	0
OR7D4	125958	broad.mit.edu	37	19	9324745	9324745	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:9324745C>T	uc002mla.2	-	0	803	c.769G>A	c.(769-771)Ggg>Agg	p.G257R		NM_001005191	NP_001005191	Q8NG98	OR7D4_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily D, member 4 (OR7D4), mRNA.	257					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1)	26						AGATAGACCCCAAGTCCTGTT	0.527000														20			13		0	0	0.00185496	0	0
ALPK2	115701	broad.mit.edu	37	18	56203320	56203320	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr18:56203320C>T	uc002lhj.4	-	4	4313	c.4099G>A	c.(4099-4101)Gaa>Aaa	p.E1367K	ALPK2_uc002lhk.1_Missense_Mutation_p.E698K	NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN	Homo sapiens alpha-kinase 2 (ALPK2), mRNA.	1367							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						TTAACATTTTCCTTCCCTCCA	0.453000														64			31		0	0	0.00327116	0	0
LPPR5	163404	broad.mit.edu	37	1	99418669	99418669	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:99418669G>A	uc001dsb.3	-	2	800	c.578C>T	c.(577-579)tCc>tTc	p.S193F	LPPR5_uc001dsc.3_Missense_Mutation_p.S193F	NM_001037317	NP_001032394	Q32ZL2	LPPR5_HUMAN	Homo sapiens lipid phosphate phosphatase-related protein type 5 (LPPR5), transcript variant 1, mRNA.	193						integral to membrane	hydrolase activity										TGCTTCTTTGGATGGAAAGGT	0.408000														69			21		0	0	0.00188189	0	0
GPR97	222487	broad.mit.edu	37	16	57707306	57707306	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr16:57707306G>A	uc002emh.3	+	1	235	c.132G>A	c.(130-132)ttG>ttA	p.L44L	GPR97_uc010cdc.3_Silent_p.L44L|GPR97_uc010vhv.2_5'UTR|GPR97_uc010cdd.3_Non-coding_Transcript	NM_170776	NP_740746	Q86Y34	GPR97_HUMAN	Homo sapiens G protein-coupled receptor 97 (GPR97), mRNA.	44					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TCTTCAACTTGAATGACAAGG	0.547000														23			18		0	0	0.00188189	0	0
SACS	26278	broad.mit.edu	37	13	23906653	23906653	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr13:23906653G>A	uc001uon.2	-	9	11951	c.11362C>T	c.(11362-11364)Cgt>Tgt	p.R3788C	SACS_uc001uoo.2_Missense_Mutation_p.R3641C|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	Homo sapiens spastic ataxia of Charlevoix-Saguenay (sacsin) (SACS), mRNA.	3788					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|Hsp70 protein binding|chaperone binding|proteasome binding	p.R3641C(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		AACTGAAAACGAAATTCCCTT	0.383000														40			25		0	0	0.000720815	0	0
CDK13	8621	broad.mit.edu	37	7	40102466	40102466	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:40102466C>T	uc003thh.4	+	7	2924	c.2642C>T	c.(2641-2643)cCa>cTa	p.P881L	CDK13_uc003thi.4_Missense_Mutation_p.P881L|CDK13_uc011kbf.2_Missense_Mutation_p.P267L|CDK13_uc003thj.3_5'UTR	NM_003718	NP_003709	Q14004	CDK13_HUMAN	Homo sapiens cyclin-dependent kinase 13 (CDK13), transcript variant 1, mRNA.	881	Protein kinase.				alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|RNA polymerase II carboxy-terminal domain kinase activity|cyclin-dependent protein kinase activity|protein binding	p.R880S(2)		cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						TGGTACCGTCCACCTGAACTG	0.388000														248			120		0	0	0.00361006	0	0
OR2A25	392138	broad.mit.edu	37	7	143771942	143771942	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:143771942C>T	uc011ktx.2	+	0	630	c.630C>T	c.(628-630)ttC>ttT	p.F210F		NM_001004488	NP_001004488	A4D2G3	O2A25_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 25 (OR2A25), mRNA.	210					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F210F(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24	Melanoma(164;0.0783)					TGGGAGCCTTCTTTTCCACTG	0.473000														66			35		0	0	0.00375469	0	0
KCNQ3	3786	broad.mit.edu	37	8	133141858	133141858	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr8:133141858C>T	uc003ytj.3	-	14	2495	c.2270G>A	c.(2269-2271)cGa>cAa	p.R757Q	KCNQ3_uc003yti.3_Missense_Mutation_p.R637Q|KCNQ3_uc010mdt.3_Missense_Mutation_p.R745Q	NM_004519	NP_004510	O43525	KCNQ3_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 3 (KCNQ3), transcript variant 1, mRNA.	757					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			GCAGCTCACTCGGGAGTCGAG	0.602000														16			9		0	0	0.000274275	0	0
ABCC3	8714	broad.mit.edu	37	17	48768473	48768473	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr17:48768473G>A	uc002isl.3	+	30	4576	c.4496G>A	c.(4495-4497)gGa>gAa	p.G1499E	ABCC3_uc002isn.3_Missense_Mutation_p.G253E	NM_003786	NP_003777	O15438	MRP3_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 3 (ABCC3), transcript variant 1, mRNA.	1499	ABC transporter 2.				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	CTGGACAAAGGAGTAGTAGCT	0.488000														30			25		0	0	0.00395357	0	0
SLC22A12	116085	broad.mit.edu	37	11	64359170	64359170	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:64359170C>T	uc001oam.1	+	0	889	c.142C>T	c.(142-144)Cgc>Tgc	p.R48C	SLC22A12_uc009ypr.1_Missense_Mutation_p.R48C|SLC22A12_uc001oal.1_5'UTR|SLC22A12_uc009yps.1_Missense_Mutation_p.R48C|SLC22A12_uc001oan.1_Missense_Mutation_p.R48C|SLC22A12_uc009ypt.3_5'Flank	NM_144585	NP_700357	Q96S37	S22AC_HUMAN	Homo sapiens solute carrier family 22 (organic anion/urate transporter), member 12 (SLC22A12), transcript variant 1, mRNA.	48					cellular homeostasis|response to drug|urate metabolic process	apical plasma membrane|brush border membrane|integral to membrane	PDZ domain binding|urate transmembrane transporter activity	p.S41fs*22(1)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27						GCCCAGCCACCGCTGCTGGGC	0.637000														12			7		0	0	0.00307968	0	0
COL6A1	1291	broad.mit.edu	37	21	47412099	47412099	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr21:47412099C>T	uc002zhu.1	+	16	1306	c.1204C>T	c.(1204-1206)Ccc>Tcc	p.P402S		NM_001848	NP_001839	P12109	CO6A1_HUMAN	Homo sapiens collagen, type VI, alpha 1 (COL6A1), mRNA.	402	Triple-helical region.				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	Palifermin(DB00039)	AGAGCCTGGGCCCCCCGGAGA	0.642000														27			10		0	0	0.00136819	0	0
ZC3H7B	23264	broad.mit.edu	37	22	41735042	41735042	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr22:41735042C>T	uc003azw.3	+	8	879	c.663C>T	c.(661-663)ctC>ctT	p.L221L		NM_017590	NP_060060	Q9UGR2	Z3H7B_HUMAN	Homo sapiens zinc finger CCCH-type containing 7B (ZC3H7B), mRNA.	237					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						CAGCCCTTCTCCCCTCCACGC	0.677000														88			36		0	0	0.00222228	0	0
IARS2	55699	broad.mit.edu	37	1	220312353	220312353	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:220312353A>G	uc001hmc.3	+	17	2283	c.2179A>G	c.(2179-2181)Agg>Ggg	p.R727G		NM_018060	NP_060530	Q9NSE4	SYIM_HUMAN	Homo sapiens isoleucyl-tRNA synthetase 2, mitochondrial (IARS2), nuclear gene encoding mitochondrial protein, mRNA.	727					isoleucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|isoleucine-tRNA ligase activity			NS(1)|breast(1)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(17)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51				GBM - Glioblastoma multiforme(131;0.0554)	L-Isoleucine(DB00167)	TGAATAGCTTAGGAATACACT	0.333000														41			29		0	0	0.00428921	0	0
BRIP1	83990	broad.mit.edu	37	17	59770874	59770874	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr17:59770874C>T	uc002izk.2	-	18	2799	c.2493_splice	c.e18-1	p.R831_splice	BRIP1_uc002izl.1_Splice_Site_p.R212_splice	NM_032043	NP_114432	Q9BX63	FANCJ_HUMAN	Homo sapiens BRCA1 interacting protein C-terminal helicase 1 (BRIP1), mRNA.	831					DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						TCTAATACATCTAGAAAAAAT	0.343000			"""F, N, Mis"""			"""AML, leukemia, breast"""		Involved in tolerance or repair of DNA crosslinks						70			83		0	0	0.00361006	0	0
IDE	3416	broad.mit.edu	37	10	94291658	94291658	+	Silent	SNP	G	A	A	rs34747737		TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr10:94291658G>A	uc001kia.3	-	3	584	c.508C>T	c.(508-510)Ctg>Ttg	p.L170L		NM_004969	NP_004960	P14735	IDE_HUMAN	Homo sapiens insulin-degrading enzyme (IDE), transcript variant 1, mRNA.	170					beta-amyloid metabolic process|bradykinin catabolic process|interspecies interaction between organisms|sex differentiation	cell surface|extracellular space|soluble fraction	ATP binding|metalloendopeptidase activity|protein homodimerization activity|signal transducer activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2)	33					Bacitracin(DB00626)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	AAGGGGCACAGAAAAAACTGT	0.353000														132			126		0	0	0.00361006	0	0
RAI2	10742	broad.mit.edu	37	X	17819392	17819392	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chrX:17819392G>A	uc022btm.1	-	0	739	c.739C>T	c.(739-741)Ccc>Tcc	p.P247S	RAI2_uc004cyf.3_Missense_Mutation_p.P247S|RAI2_uc004cyg.3_Missense_Mutation_p.P247S|RAI2_uc011miy.2_Missense_Mutation_p.P197S|RAI2_uc022btl.1_Missense_Mutation_p.P247S|RAI2_uc004cyh.4_Missense_Mutation_p.P247S|RAI2_uc010nfa.3_Missense_Mutation_p.P247S	NM_021785	NP_068557	Q9Y5P3	RAI2_HUMAN	Homo sapiens retinoic acid induced 2 (RAI2), transcript variant 2, mRNA.	247	Pro-rich.				embryo development					breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	22	Hepatocellular(33;0.183)					ATGGGGATGGGAATAGGGACT	0.587000														12			27		0	0	0.00106085	0	0
ATP2A1	487	broad.mit.edu	37	16	28912174	28912174	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr16:28912174G>A	uc002dro.1	+	14	2221	c.2037G>A	c.(2035-2037)gtG>gtA	p.V679V	NPIPL1_uc010vct.2_Intron|ATP2A1_uc002drn.1_Silent_p.V679V|ATP2A1_uc002drp.1_Silent_p.V554V	NM_173201	NP_775293	O14983	AT2A1_HUMAN	Homo sapiens ATPase, Ca++ transporting, cardiac muscle, fast twitch 1 (ATP2A1), transcript variant b, mRNA.	679					ATP biosynthetic process|apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress	ER-Golgi intermediate compartment|H zone|I band|endoplasmic reticulum membrane|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity	p.R678H(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						TCGCCCGTGTGGAGCCCTCGC	0.637000														38			24		0	0	0.00127121	0	0
SULF1	23213	broad.mit.edu	37	8	70533414	70533414	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr8:70533414G>A	uc003xyg.2	+	12	2083	c.1522G>A	c.(1522-1524)Gag>Aag	p.E508K	SULF1_uc010lza.1_Missense_Mutation_p.E508K|SULF1_uc003xyd.2_Missense_Mutation_p.E508K|SULF1_uc003xye.2_Missense_Mutation_p.E508K|SULF1_uc003xyf.2_Missense_Mutation_p.E508K|SULF1_uc003xyh.1_Non-coding_Transcript	NM_001128206	NP_055985	Q8IWU6	SULF1_HUMAN	Homo sapiens sulfatase 1 (SULF1), transcript variant 2, mRNA.	508					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	Golgi stack|cell surface|endoplasmic reticulum|extracellular space	arylsulfatase activity|calcium ion binding			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			CAGTTGTAGGGAGTCTGGTTA	0.527000														45			20		0	0	0.00229938	0	0
ZBTB20	26137	broad.mit.edu	37	3	114069466	114069466	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:114069466G>A	uc003ebi.3	-	3	1639	c.1459C>T	c.(1459-1461)Ctg>Ttg	p.L487L	ZBTB20_uc003ebj.3_Silent_p.L414L|ZBTB20_uc010hqp.3_Silent_p.L414L|ZBTB20_uc003ebk.3_Silent_p.L414L|ZBTB20_uc003ebl.3_Silent_p.L414L|ZBTB20_uc003ebm.3_Silent_p.L414L|ZBTB20_uc003ebn.3_Silent_p.L414L|ZBTB20-AS1_uc003ebo.2_5'Flank	NM_001164342	NP_056457	Q9HC78	ZBT20_HUMAN	Homo sapiens zinc finger and BTB domain containing 20 (ZBTB20), transcript variant 1, mRNA.	487					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.L487L(1)		breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		GGCATCCTCAGGTTGCTGGTG	0.592000														33			18		0	0	0.00121646	0	0
OR1J2	26740	broad.mit.edu	37	9	125273119	125273119	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr9:125273119C>T	uc011lyv.2	+	0	39	c.39C>T	c.(37-39)ctC>ctT	p.L13L	OR1J2_uc004bmj.2_Silent_p.L13L	NM_054107	NP_473448	Q8NGS2	OR1J2_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily J, member 2 (OR1J2), mRNA.	13					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(7)|stomach(1)	26						CCGAGTTCCTCCTTCTGGGCC	0.547000														146			38		0	0	0.0025221	0	0
EPPK1	83481	broad.mit.edu	37	8	144945056	144945056	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr8:144945056G>A	uc003zaa.1	-	0	2379	c.2366C>T	c.(2365-2367)cCc>cTc	p.P789L		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	789						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GCCCGTCTCGGGGTCACGCAC	0.627000														24			9		0	0	0.000442599	0	0
MLL2	8085	broad.mit.edu	37	19	36218489	36218489	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:36218489C>T	uc021usv.1	+	15	4268	c.4268C>T	c.(4267-4269)tCc>tTc	p.S1423F	MLL2_uc021usu.1_Missense_Mutation_p.S237F	NM_014727	NP_055542	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 4 (MLL4), mRNA.	0	Cys-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						CTGCTGAGCTCCAAGGTGGTG	0.741000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)				17			7		0	0	0.00307968	0	0
PTGS1	5742	broad.mit.edu	37	9	125148901	125148901	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr9:125148901G>A	uc004bmg.1	+	8	1321	c.1186G>A	c.(1186-1188)Gtg>Atg	p.V396M	PTGS1_uc011lys.1_Splice_Site_p.K370_splice|PTGS1_uc010mwb.1_Splice_Site_p.K286_splice|PTGS1_uc004bmf.1_Splice_Site_p.K395_splice|PTGS1_uc004bmh.1_Missense_Mutation_p.V287M|PTGS1_uc011lyt.1_Missense_Mutation_p.V287M	NM_000962	NP_000953	P23219	PGH1_HUMAN	Homo sapiens prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase) (PTGS1), transcript variant 1, mRNA.	396					cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	Golgi apparatus|endoplasmic reticulum membrane|microsome|plasma membrane	heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500)|gamma-Homolinolenic acid(DB00154)	CTCCTTCAAGGTGGGCTCCCA	0.557000														130			36		0	0	0.00428921	0	0
SLCO1A2	6579	broad.mit.edu	37	12	21453303	21453303	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:21453303C>T	uc001rer.3	-	6	1140	c.889G>A	c.(889-891)Gaa>Aaa	p.E297K	SLCO1A2_uc010siq.2_Missense_Mutation_p.E165K|SLCO1A2_uc001res.3_Missense_Mutation_p.E297K|SLCO1A2_uc010sio.2_Missense_Mutation_p.E165K|SLCO1A2_uc010sip.2_Missense_Mutation_p.E165K|SLCO1A2_uc001ret.3_Missense_Mutation_p.E295K|SLCO1A2_uc001reu.2_Missense_Mutation_p.E277K	NM_021094	NP_602307	P46721	SO1A2_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1A2 (SLCO1A2), transcript variant 2, mRNA.	297					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						CCATATTTTTCCTTCTTGACC	0.294000														37			7		0	0	0.00198382	0	0
ANK3	288	broad.mit.edu	37	10	61833876	61833876	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr10:61833876G>A	uc001jky.3	-	36	7101	c.6763C>T	c.(6763-6765)Cat>Tat	p.H2255Y	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.	2255					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						GGTGGAGAATGATAAACCATT	0.463000														55			32		0	0	0.00375469	0	0
KLHDC8A	55220	broad.mit.edu	37	1	205308473	205308473	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:205308473C>T	uc001hcf.1	-	3	1174	c.606G>A	c.(604-606)tgG>tgA	p.W202*	KLHDC8A_uc010prg.1_Nonsense_Mutation_p.W89*|KLHDC8A_uc001hcg.1_Nonsense_Mutation_p.W202*	NM_018203	NP_060673	Q8IYD2	KLD8A_HUMAN	Homo sapiens kelch domain containing 8A (KLHDC8A), mRNA.	202										breast(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(84;0.23)		BRCA - Breast invasive adenocarcinoma(75;0.117)			GAAACTTGGTCCAGGAGCGAG	0.582000														16			7		0	0	0.000274275	0	0
SCAPER	49855	broad.mit.edu	37	15	77067374	77067374	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr15:77067374G>A	uc002bby.3	-	7	916	c.857C>T	c.(856-858)tCa>tTa	p.S286L	SCAPER_uc002bbx.3_Missense_Mutation_p.S40L|SCAPER_uc002bbz.1_Missense_Mutation_p.S151L|SCAPER_uc002bca.1_Missense_Mutation_p.S151L|SCAPER_uc002bcb.1_Missense_Mutation_p.S286L|SCAPER_uc002bcc.1_Missense_Mutation_p.S286L	NM_020843	NP_065894	Q9BY12	SCAPE_HUMAN	Homo sapiens S-phase cyclin A-associated protein in the ER (SCAPER), transcript variant 1, mRNA.	285						endoplasmic reticulum|nucleus	zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	39						TGTTGCCAATGAAACTTTTGG	0.403000														47			119		0	0	0.00361006	0	0
TLL2	7093	broad.mit.edu	37	10	98205860	98205860	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr10:98205860C>T	uc001kml.2	-	2	593	c.352G>A	c.(352-354)Gaa>Aaa	p.E118K	TLL2_uc009xvf.2_Missense_Mutation_p.E118K	NM_012465	NP_036597	Q9Y6L7	TLL2_HUMAN	Homo sapiens tolloid-like 2 (TLL2), mRNA.	118					cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		TTTCCAGCTTCCTTGGTGCCA	0.483000														50			44		0	0	0.00361006	0	0
LINC00478	388815	broad.mit.edu	37	21	17443452	17443452	+	RNA	SNP	T	C	C			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr21:17443452T>C	uc002ykb.2	+	1		c.46T>C			LINC00478_uc010glc.2_Non-coding_Transcript					Homo sapiens long intergenic non-protein coding RNA 478 (LINC00478), transcript variant 1, non-coding RNA.																		GAGAACGCTGTCTGGGCTTGG	0.468000														120			49		0	0	0.00361006	0	0
COL4A2	1284	broad.mit.edu	37	13	111109730	111109730	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr13:111109730C>T	uc001vqx.3	+	20	1669	c.1380C>T	c.(1378-1380)ggC>ggT	p.G460G		NM_001846	NP_001837	P08572	CO4A2_HUMAN	Homo sapiens collagen, type IV, alpha 2 (COL4A2), mRNA.	460	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			GAAGAGCAGGCTTCCCTGGGC	0.617000														25			7		0	0	0.000673444	0	0
KCNB2	9312	broad.mit.edu	37	8	73849889	73849889	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr8:73849889C>T	uc003xzb.3	+	2	2887	c.2299C>T	c.(2299-2301)Ccc>Tcc	p.P767S		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA.	767					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			GGGAGACAGACCCTTGCTGGG	0.562000														48			24		0	0	0.00332997	0	0
TTN	7273	broad.mit.edu	37	2	179596691	179596691	+	Silent	SNP	A	G	G			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:179596691A>G	uc021vsy.1	-	54	13404	c.13179T>C	c.(13177-13179)ccT>ccC	p.P4393P	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.P1054P	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	5320	Ig-like 24.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGGTAAAATAAGGTGACTCTA	0.443000														56			17		0	0	0.00121646	0	0
RSAD1	55316	broad.mit.edu	37	17	48559766	48559766	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr17:48559766C>T	uc002iqw.1	+	3	845	c.789C>T	c.(787-789)gtC>gtT	p.V263V	RSAD1_uc010wmq.1_Non-coding_Transcript	NM_018346	NP_060816	Q9HA92	RSAD1_HUMAN	Homo sapiens radical S-adenosyl methionine domain containing 1 (RSAD1), mRNA.	263					porphyrin biosynthetic process	mitochondrion	4 iron, 4 sulfur cluster binding|coproporphyrinogen oxidase activity|metal ion binding			breast(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			GCCGGGCTGTCCTTCGGGAGG	0.647000											OREG0024567	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		49			11		0	0	0.000978159	0	0
RGPD3	653489	broad.mit.edu	37	2	107041046	107041046	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:107041046G>A	uc010ywi.1	-	19	3434	c.3377C>T	c.(3376-3378)tCa>tTa	p.S1126L		NM_001144013	NP_001137485	A6NKT7	RGPD3_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 3 (RGPD3), mRNA.	1126	RanBD1 1.				intracellular transport		binding	p.S1126T(2)		breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TGCTCTATCTGATCCAGAGAG	0.428000														125			53		0	0	0.00361006	0	0
CASR	846	broad.mit.edu	37	3	121980867	121980867	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:121980867G>A	uc003eew.4	+	3	1423	c.985G>A	c.(985-987)Ggc>Agc	p.G329S	CASR_uc003eev.4_Missense_Mutation_p.G329S	NM_001178065	NP_001171536	P41180	CASR_HUMAN	Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA.	329					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	GCAGATCCCAGGCTTCCGGGA	0.557000														30			15		0	0	0.00316338	0	0
CCBE1	147372	broad.mit.edu	37	18	57103238	57103238	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr18:57103238G>A	uc002lib.3	-	10	1193	c.1123C>T	c.(1123-1125)Ccc>Tcc	p.P375S	CCBE1_uc010dpq.3_Missense_Mutation_p.P104S|CCBE1_uc002lia.3_Missense_Mutation_p.P228S	NM_133459	NP_597716	Q6UXH8	CCBE1_HUMAN	Homo sapiens collagen and calcium binding EGF domains 1 (CCBE1), mRNA.	375					lymphangiogenesis|sprouting angiogenesis|venous blood vessel morphogenesis	collagen	calcium ion binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(3)	24		Colorectal(73;0.175)				GGGTAGCTGGGAAATTCCTGA	0.537000														99			39		0	0	0.00111076	0	0
ITPR2	3709	broad.mit.edu	37	12	26639045	26639045	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:26639045C>T	uc001rhg.3	-	40	6220	c.5803G>A	c.(5803-5805)Gaa>Aaa	p.E1935K	ITPR2_uc009zjg.1_Missense_Mutation_p.E86K	NM_002223	NP_002214	Q14571	ITPR2_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 2 (ITPR2), mRNA.	1935					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	p.R1934Q(1)	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)					ACCTGCAATTCCCGGTTGTGA	0.388000														49			28		0	0	0.00283554	0	0
FAM116A	201627	broad.mit.edu	37	3	57649398	57649398	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:57649398G>A	uc003dja.3	-	4	549	c.478C>T	c.(478-480)Cga>Tga	p.R160*		NM_152678	NP_689891	Q8IWF6	F116A_HUMAN	Homo sapiens family with sequence similarity 116, member A (FAM116A), mRNA.	160										breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(2)|ovary(1)|pancreas(1)	16				BRCA - Breast invasive adenocarcinoma(55;0.000621)|KIRC - Kidney renal clear cell carcinoma(284;0.0485)|Kidney(284;0.0607)		GTTTTATCTCGAACTTGTCGG	0.308000														66			21		0	0	0.00127121	0	0
TTN	7273	broad.mit.edu	37	2	179600576	179600576	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:179600576G>A	uc021vsy.1	-	46	11090	c.10865C>T	c.(10864-10866)tCt>tTt	p.S3622F	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.S283F	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	4549	Ig-like 22.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGCCTTACAAGAATAAACTCC	0.418000														50			19		0	0	0.00121646	0	0
ACTR3C	653857	broad.mit.edu	37	7	149986577	149986577	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:149986577G>A	uc003wgu.2	-	3	449	c.259C>T	c.(259-261)Cct>Tct	p.P87S	ACTR3C_uc022aps.1_Missense_Mutation_p.P87S	NM_001164459	NP_001157931	Q9C0K3	ARP3C_HUMAN	Homo sapiens ARP3 actin-related protein 3 homolog C (yeast) (ACTR3C), transcript variant 2, mRNA.	87					regulation of actin filament polymerization	cytoskeleton	ATP binding|actin binding										TGCTCAGGAGGGATTCCCACC	0.483000														7			3		0	0	0.00116845	0	0
CATSPERB	79820	broad.mit.edu	37	14	92171042	92171042	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr14:92171042G>A	uc001xzs.1	-	6	610	c.470C>T	c.(469-471)cCg>cTg	p.P157L		NM_024764	NP_079040	Q9H7T0	CTSRB_HUMAN	Homo sapiens cation channel, sperm-associated, beta (CATSPERB), mRNA.	157					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane		p.P157L(2)		NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				CTGAAGAATCGGTTCTGTGGA	0.388000														38			16		0	0	0.00316338	0	0
RYR2	6262	broad.mit.edu	37	1	237777442	237777442	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:237777442G>A	uc001hyl.1	+	36	5134	c.5014G>A	c.(5014-5016)Gtg>Atg	p.V1672M		NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	1672	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.A1671A(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GAACCACCGGGTGGCCCATGC	0.522000														33			14		0	0	0.00400662	0	0
RUNX1T1	862	broad.mit.edu	37	8	93017372	93017372	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr8:93017372C>T	uc022axs.1	-	5	1076	c.889G>A	c.(889-891)Gaa>Aaa	p.E297K	RUNX1T1_uc003yfc.2_Missense_Mutation_p.E211K|RUNX1T1_uc010mam.3_Missense_Mutation_p.E211K|RUNX1T1_uc003yfe.2_Missense_Mutation_p.E201K|RUNX1T1_uc003yfd.3_Missense_Mutation_p.E238K|RUNX1T1_uc022axo.1_Missense_Mutation_p.E238K|RUNX1T1_uc010mao.3_Missense_Mutation_p.E211K|RUNX1T1_uc011lgi.2_Missense_Mutation_p.E249K|RUNX1T1_uc022axp.1_Missense_Mutation_p.E238K|RUNX1T1_uc022axq.1_Missense_Mutation_p.E238K|RUNX1T1_uc022axr.1_Missense_Mutation_p.E238K|RUNX1T1_uc022axt.1_Missense_Mutation_p.E238K|RUNX1T1_uc022axu.1_Missense_Mutation_p.E218K|RUNX1T1_uc022axv.1_Missense_Mutation_p.E238K|RUNX1T1_uc003yfb.2_Missense_Mutation_p.E201K|RUNX1T1_uc003yff.1_Missense_Mutation_p.E201K	NM_001198679	NP_001185608	Q06455	MTG8_HUMAN	Homo sapiens runt-related transcription factor 1; translocated to, 1 (cyclin D-related) (RUNX1T1), transcript variant 15, mRNA.	238	Poly-Pro.				generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.E238K(1)|p.E201K(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			TTCCCGTTTTCGTTCACATCG	0.542000														81			25		0	0	0.000878237	0	0
F10	2159	broad.mit.edu	37	13	113803237	113803237	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr13:113803237G>A	uc001vsx.3	+	7	930	c.873G>A	c.(871-873)cgG>cgA	p.R291R	F10_uc001vsy.3_Missense_Mutation_p.G288E	NM_000504	NP_000495	P00742	FA10_HUMAN	Homo sapiens coagulation factor X (F10), mRNA.	291	Peptidase S1.				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of cell migration|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	Golgi lumen|endoplasmic reticulum lumen|extracellular region	calcium ion binding|phospholipid binding|protein binding|serine-type endopeptidase activity			endometrium(2)|large_intestine(4)|lung(10)|pancreas(1)|stomach(1)	18	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0805)|Epithelial(84;0.231)		Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Heparin(DB01109)|Menadione(DB00170)|Reteplase(DB00015)|Tenecteplase(DB00031)	CAGGGGACCGGAACACGGAGC	0.542000														90			37		0	0	0.00148497	0	0
C7	730	broad.mit.edu	37	5	40962188	40962188	+	Splice_Site	SNP	T	C	C			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:40962188T>C	uc003jmh.3	+	13	1776	c.1662_splice	c.e13-1	p.R554_splice	C7_uc011cpn.1_Splice_Site	NM_000587	NP_000578	P10643	CO7_HUMAN	Homo sapiens complement component 7 (C7), mRNA.	554					complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				TCCTTCCAGGTTGCTTGAACC	0.358000														14			5		0	0	0.000602214	0	0
OR52A5	390054	broad.mit.edu	37	11	5153745	5153745	+	Missense_Mutation	SNP	C	T	T	rs145415920		TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:5153745C>T	uc010qyx.2	-	0	128	c.128G>A	c.(127-129)gGa>gAa	p.G43E		NM_001005160	NP_001005160	Q9H2C5	O52A5_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily A, member 5 (OR52A5), mRNA.	43					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G43E(2)|p.G43R(1)|p.G43*(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(18)|skin(3)	35		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		TAGGGAATTTCCAATCACACC	0.403000														35			11		0	0	0.000978159	0	0
NLRP7	199713	broad.mit.edu	37	19	55450931	55450931	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:55450931G>A	uc002qih.4	-	3	1332	c.1256C>T	c.(1255-1257)gCc>gTc	p.A419V	NLRP7_uc010esk.3_Missense_Mutation_p.A419V|NLRP7_uc002qig.4_Missense_Mutation_p.A419V|NLRP7_uc002qii.4_Missense_Mutation_p.A419V|NLRP7_uc010esl.3_Missense_Mutation_p.A447V	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN	Homo sapiens NLR family, pyrin domain containing 7 (NLRP7), transcript variant 2, mRNA.	419	NACHT.						ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		GCCCTGCGCGGCCAGGAGGCT	0.701000														19			9		0	0	0.000673444	0	0
USP5	8078	broad.mit.edu	37	12	6972504	6972504	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:6972504A>T	uc001qri.4	+	14	1976	c.1917A>T	c.(1915-1917)gaA>gaT	p.E639D	USP5_uc001qrh.4_Intron	NM_001098536	NP_001092006	P45974	UBP5_HUMAN	Homo sapiens ubiquitin specific peptidase 5 (isopeptidase T) (USP5), transcript variant 1, mRNA.	639					positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process	lysosome	cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding			breast(6)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|skin(2)|urinary_tract(2)	36						ACGAAGACGAAGACTCCTTCT	0.587000														60			27		0	0	0.00106085	0	0
C1orf173	127254	broad.mit.edu	37	1	75055760	75055760	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:75055760C>T	uc001dgg.3	-	11	1950	c.1731G>A	c.(1729-1731)atG>atA	p.M577I	CR627203_uc001dgh.3_Intron|C1orf173_uc001dgi.4_Missense_Mutation_p.M371I	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	577	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						AAGCAGTTTTCATATCTACAA	0.353000														10			7		0	0	0.00198382	0	0
ASPA	443	broad.mit.edu	37	17	3397679	3397679	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr17:3397679A>G	uc010ckg.3	+	5	761	c.670A>G	c.(670-672)Aaa>Gaa	p.K224E	SPATA22_uc010vrg.2_Intron|ASPA_uc002fvq.3_Missense_Mutation_p.K224E	NM_001128085	NP_001121557	P45381	ACY2_HUMAN	Homo sapiens aspartoacylase (ASPA), transcript variant 2, mRNA.	224					aspartate catabolic process	cytoplasm|nucleus	aminoacylase activity|aspartoacylase activity|hydrolase activity, acting on ester bonds|metal ion binding			breast(2)|endometrium(2)|large_intestine(6)|lung(5)|stomach(1)|urinary_tract(1)	17					L-Aspartic Acid(DB00128)	TGAGGTCTATAAAATTATAGA	0.393000														106			107		0	0	0.00361006	0	0
OR6T1	219874	broad.mit.edu	37	11	123814011	123814011	+	Missense_Mutation	SNP	G	A	A	rs140103246		TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:123814011G>A	uc010sab.2	-	0	535	c.535C>T	c.(535-537)Cgt>Tgt	p.R179C		NM_001005187	NP_001005187	Q8NGN1	OR6T1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily T, member 1 (OR6T1), mRNA.	179					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R179C(2)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		CAACTGTCACGAAAGAAGTGG	0.572000														20			15		0	0	0.00316338	0	0
P2RY13	53829	broad.mit.edu	37	3	151046404	151046404	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:151046404C>T	uc003eyv.2	-	1	461	c.440G>A	c.(439-441)aGa>aAa	p.R147K	MED12L_uc003eyp.3_Intron|MED12L_uc011bnz.2_Intron	NM_176894	NP_795713	Q9BPV8	P2Y13_HUMAN	Homo sapiens purinergic receptor P2Y, G-protein coupled, 13 (P2RY13), mRNA.	147						integral to membrane|plasma membrane				biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	14			LUSC - Lung squamous cell carcinoma(72;0.0189)|Lung(72;0.0278)			TCTCAAAGGTCTGATGATCTT	0.383000														30			8		0	0	0.000274275	0	0
SPEG	10290	broad.mit.edu	37	2	220338538	220338538	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:220338538G>A	uc010fwg.3	+	17	4360	c.4360G>A	c.(4360-4362)Gtg>Atg	p.V1454M		NM_005876	NP_005867	Q15772	SPEG_HUMAN	Homo sapiens SPEG complex locus (SPEG), transcript variant 1, mRNA.	1454	Ig-like 7.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		GATCTGCCGGGTGAGCCGCCG	0.662000														57			27		0	0	0.00209593	0	0
ZNF804A	91752	broad.mit.edu	37	2	185802718	185802718	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:185802718C>T	uc002uph.3	+	3	3189	c.2595C>T	c.(2593-2595)atC>atT	p.I865I		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	Homo sapiens zinc finger protein 804A (ZNF804A), mRNA.	865						intracellular	zinc ion binding	p.I865I(2)		NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						TTGCAAAAATCGAAAGGAACT	0.358000														50			20		0	0	0.00188189	0	0
GIMAP7	168537	broad.mit.edu	37	7	150217236	150217236	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:150217236C>T	uc003whk.3	+	1	304	c.174C>T	c.(172-174)gaC>gaT	p.D58D	GIMAP7_uc022apu.1_Silent_p.D58D	NM_153236	NP_694968	Q8NHV1	GIMA7_HUMAN	Homo sapiens GTPase, IMAP family member 7 (GIMAP7), mRNA.	58							GTP binding			breast(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	17			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGGGGAGAGACCTTCTTGTTG	0.527000														35			12		0	0	0.00136819	0	0
OR2J3	442186	broad.mit.edu	37	6	29080598	29080598	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:29080598G>A	uc011dll.2	+	0	931	c.931G>A	c.(931-933)Gaa>Aaa	p.E311K		NM_001005216	NP_001005216	O76001	OR2J3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily J, member 3 (OR2J3), mRNA.	311					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.W310C(1)		endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24						AATGGGGTGGGAATGAGCCTG	0.393000														34			11		0	0	0.00136819	0	0
OR10J3	441911	broad.mit.edu	37	1	159283508	159283508	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:159283508C>T	uc010piu.2	-	0	942	c.942G>A	c.(940-942)atG>atA	p.M314I		NM_001004467	NP_001004467	Q5JRS4	O10J3_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily J, member 3 (OR10J3), mRNA.	314					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					AACCTCTCTTCATTAAGGAGA	0.413000														70			26		0	0	0.00127121	0	0
PTPRM	5797	broad.mit.edu	37	18	8370887	8370887	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr18:8370887G>A	uc002knn.4	+	22	3519	c.3016_splice	c.e22-1	p.V1006_splice	PTPRM_uc010dkv.3_Splice_Site_p.V1019_splice|PTPRM_uc010wzl.2_Splice_Site_p.V793_splice	NM_002845	NP_002836	P28827	PTPRM_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, M (PTPRM), transcript variant 2, mRNA.	1006	Tyrosine-protein phosphatase 1.				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				GTTTTCTAAAGGTCAAATGCT	0.343000														42			22		0	0	0.00106085	0	0
OR11G2	390439	broad.mit.edu	37	14	20666088	20666088	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr14:20666088C>T	uc010tlb.2	+	0	594	c.594C>T	c.(592-594)atC>atT	p.I198I		NM_001005503	NP_001005503	Q8NGC1	O11G2_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily G, member 2 (OR11G2), mRNA.	198					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(95;0.00108)		Epithelial(56;9.76e-07)|all cancers(55;5.61e-06)	GBM - Glioblastoma multiforme(265;0.0144)		TGATTCCTATCGTCAACATCT	0.463000														21			12		0	0	0.000978159	0	0
FRAS1	80144	broad.mit.edu	37	4	79369463	79369463	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr4:79369463C>T	uc003hlb.2	+	43	6707	c.6267C>T	c.(6265-6267)ctC>ctT	p.L2089L		NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	2088					cell communication	integral to membrane|plasma membrane	metal ion binding	p.L2089F(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						GCCTACAGCTCTCAGCAGGTA	0.463000														3			4		0	0	0.00024832	0	0
APOL1	8542	broad.mit.edu	37	22	36661836	36661836	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr22:36661836G>A	uc003ape.3	+	6	1276	c.1002G>A	c.(1000-1002)gtG>gtA	p.V334V	APOL1_uc011amn.1_Silent_p.V195V|APOL1_uc021wom.1_Non-coding_Transcript|APOL1_uc011amo.2_Silent_p.V195V|APOL1_uc003apf.3_Silent_p.V318V|APOL1_uc011amp.2_Silent_p.V318V|APOL1_uc011amq.2_Silent_p.V300V|APOL1_uc010gwx.3_Silent_p.V195V	NM_145343	NP_003652	O14791	APOL1_HUMAN	Homo sapiens apolipoprotein L, 1 (APOL1), transcript variant 2, mRNA.	318					cholesterol metabolic process|cytolysis|innate immune response|killing of cells of other organism|lipid transport|lipoprotein metabolic process	high-density lipoprotein particle|very-low-density lipoprotein particle	chloride channel activity|lipid binding|protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	14						GTGAACAGGTGGAGAGGGTTA	0.557000														39			22		0	0	0.00188189	0	0
OR6C4	341418	broad.mit.edu	37	12	55945125	55945125	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:55945125G>A	uc010spp.2	+	0	115	c.115G>A	c.(115-117)Gga>Aga	p.G39R		NM_001005494	NP_001005494	Q8NGE1	OR6C4_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 4 (OR6C4), mRNA.	39					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	11						AAGTATCCTAGGAAATCTGAC	0.423000														110			46		0	0	0.00361006	0	0
CNTN3	5067	broad.mit.edu	37	3	74350890	74350890	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:74350890C>T	uc003dpm.1	-	13	1933	c.1853G>A	c.(1852-1854)tGg>tAg	p.W618*		NM_020872	NP_065923	Q9P232	CNTN3_HUMAN	Homo sapiens contactin 3 (plasmacytoma associated) (CNTN3), mRNA.	618	Fibronectin type-III 1.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		ACCTTCTTTCCAAGAGAGTTG	0.453000														47			16		0	0	0.000958276	0	0
CEP192	55125	broad.mit.edu	37	18	13068116	13068116	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr18:13068116C>T	uc010xac.2	+	22	4718	c.4638C>T	c.(4636-4638)ttC>ttT	p.F1546F	CEP192_uc010dlf.1_Non-coding_Transcript|CEP192_uc010xad.2_Silent_p.F1071F|CEP192_uc002kru.3_Non-coding_Transcript|CEP192_uc002krv.3_5'UTR	NM_032142	NP_115518	B7ZMF0	B7ZMF0_HUMAN	Homo sapiens centrosomal protein 192kDa (CEP192), mRNA.	1141										NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GGCGCTGTTTCACGTTTTCCA	0.463000														91			28		0	0	0.00127121	0	0
CNBD1	168975	broad.mit.edu	37	8	87951846	87951846	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr8:87951846G>A	uc003ydy.2	+	3	343	c.295G>A	c.(295-297)Gaa>Aaa	p.E99K		NM_173538	NP_775809	Q8NA66	CNBD1_HUMAN	Homo sapiens cyclic nucleotide binding domain containing 1 (CNBD1), mRNA.	99										breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1)	32						AGGCAAAGAGGAAAGTCAACA	0.348000														94			38		0	0	0.00321405	0	0
C12orf77	196415	broad.mit.edu	37	12	25148921	25148921	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:25148921C>T	uc001rgf.3	-	2	432	c.227G>A	c.(226-228)cGa>cAa	p.R76Q		NM_001101339	NP_001094809	C9JDV5	CL097_HUMAN	Homo sapiens chromosome 12 open reading frame 77 (C12orf77), mRNA.	76										endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	7						AGGCATCCATCGTATGCTGTC	0.502000														20			5		0	0	0.000602214	0	0
SLC19A2	10560	broad.mit.edu	37	1	169439219	169439219	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:169439219G>A	uc001gge.4	-	2	1217	c.1013C>T	c.(1012-1014)gCc>gTc	p.A338V	SLC19A2_uc001ggf.4_Missense_Mutation_p.A137V	NM_006996	NP_008927	O60779	S19A2_HUMAN	Homo sapiens solute carrier family 19 (thiamine transporter), member 2 (SLC19A2), mRNA.	338					thiamine-containing compound metabolic process	integral to membrane|plasma membrane	folic acid binding|folic acid transporter activity|reduced folate carrier activity|thiamine uptake transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1)	11	all_hematologic(923;0.208)					GGTTGAAACGGCCTCCACGCC	0.483000														66			38		0	0	0.00361006	0	0
TAS2R38	5726	broad.mit.edu	37	7	141673292	141673292	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:141673292G>A	uc003vwx.1	-	0	282	c.198C>T	c.(196-198)ttC>ttT	p.F66F		NM_176817	NP_789787	P59533	T2R38_HUMAN	Homo sapiens taste receptor, type 2, member 38 (TAS2R38), mRNA.	66					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1)	21	Melanoma(164;0.0171)					GTCCATGCAGGAAAAGCCGGC	0.493000														77			28		0	0	0.00106085	0	0
MYT1L	23040	broad.mit.edu	37	2	1893142	1893143	+	Missense_Mutation	DNP	GG	AT	AT			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:1893142_1893143GG>AT	uc002qxe.3	-	15	3217_3218	c.2390_2391CC>AT	c.(2389-2391)tcc>tAT	p.S797Y	MYT1L_uc002qxd.3_Missense_Mutation_p.S795Y|MYT1L_uc010ewl.2_Non-coding_Transcript	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN	Homo sapiens myelin transcription factor 1-like (MYT1L), mRNA.	797					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		GCTGCTGGGGGGACATGGGCTC	0.619000														27			17		0	0	6.4e-05	0	0
ROR2	4920	broad.mit.edu	37	9	94493352	94493352	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr9:94493352G>A	uc004arj.2	-	6	1222	c.1023C>T	c.(1021-1023)gcC>gcT	p.A341A	ROR2_uc004ari.1_Silent_p.A201A|ROR2_uc004ark.3_Silent_p.A341A	NM_004560	NP_004551	Q01974	ROR2_HUMAN	Homo sapiens receptor tyrosine kinase-like orphan receptor 2 (ROR2), mRNA.	341	Kringle.				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|Wnt-protein binding|transmembrane receptor protein tyrosine kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GGTGCTGCAGGGCCCACGGCT	0.627000														36			42		0	0	0.00321405	0	0
SERPINA5	5104	broad.mit.edu	37	14	95054319	95054319	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr14:95054319G>A	uc001ydm.2	+	3	829	c.619_splice	c.e3+1	p.A207_splice	SERPINA5_uc010ave.2_Splice_Site_p.A207_splice	NM_000624	NP_000615	P05154	IPSP_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5 (SERPINA5), mRNA.	207					fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis	extracellular region|membrane|protein complex	acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity			endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3)	36				COAD - Colon adenocarcinoma(157;0.21)	Drotrecogin alfa(DB00055)|Urokinase(DB00013)	TTCTTTAAAGGTAAGGCCCTT	0.438000														46			50		0	0	0.00361006	0	0
DLGAP2	9228	broad.mit.edu	37	8	1574988	1574988	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr8:1574988C>T	uc003wpl.3	+	3	1382	c.1285C>T	c.(1285-1287)Cgc>Tgc	p.R429C	DLGAP2_uc003wpm.3_Missense_Mutation_p.R429C	NM_004745	NP_004736	Q9P1A6	DLGP2_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 2 (DLGAP2), mRNA.	508					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding			breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		CCCGAAATTCCGCTCCCGGAA	0.617000														8			8		0	0	0.000442599	0	0
QARS	5859	broad.mit.edu	37	3	49138819	49138819	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:49138819T>C	uc003cvx.3	-	9	850	c.845A>G	c.(844-846)aAa>aGa	p.K282R	QARS_uc011bcc.2_5'Flank|QARS_uc011bcd.2_Missense_Mutation_p.K137R|QARS_uc003cvy.3_Missense_Mutation_p.K137R|QARS_uc011bce.2_Missense_Mutation_p.K271R|QARS_uc011bcf.1_Silent_p.Q253Q	NM_005051	NP_005042	P47897	SYQ_HUMAN	Homo sapiens glutaminyl-tRNA synthetase (QARS), mRNA.	282					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)	ATTGATGGCTTTGGCATGTCC	0.473000														16			21		0	0	0.00332997	0	0
B3GNT4	79369	broad.mit.edu	37	12	122690864	122690865	+	Splice_Site	DNP	GG	AA	AA			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:122690864_122690865GG>AA	uc001ubx.3	+	3	285	c.67_splice	c.e3-1	p.G23_splice	B3GNT4_uc001uby.3_Splice_Site	NM_030765	NP_110392	Q9C0J1	B3GN4_HUMAN	Homo sapiens UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4 (B3GNT4), mRNA.	23					protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	13	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000297)|Epithelial(86;0.000497)|BRCA - Breast invasive adenocarcinoma(302;0.222)		TCTCCTTGCAGGGACCGGCGAT	0.663000														23			11		0	0	6.4e-05	0	0
BRD2	6046	broad.mit.edu	37	6	32947752	32947752	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:32947752C>T	uc010juh.3	+	10	3398	c.2094C>T	c.(2092-2094)ggC>ggT	p.G698G	BRD2_uc003ocn.4_Silent_p.G663G|BRD2_uc003ocp.4_Silent_p.G543G|BRD2_uc003ocq.4_Silent_p.G663G|BRD2_uc021ywf.1_Silent_p.G616G	NM_001199455	NP_001186384	P25440	BRD2_HUMAN	Homo sapiens bromodomain containing 2 (BRD2), transcript variant 3, mRNA.	663	ET.				spermatogenesis	nucleus	protein serine/threonine kinase activity			central_nervous_system(3)|stomach(2)	5						AGAAGCTGGGCCGAGTTGTGC	0.483000														43			9		0	0	0.000442599	0	0
RFX6	222546	broad.mit.edu	37	6	117252646	117252646	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:117252646G>A	uc003pxm.3	+	18	2827	c.2764G>A	c.(2764-2766)Gga>Aga	p.G922R		NM_173560	NP_775831	Q8HWS3	RFX6_HUMAN	Homo sapiens regulatory factor X, 6 (RFX6), mRNA.	922					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						TGTGTTCATGGGAACAGCAGC	0.438000														23			13		0	0	0.00185496	0	0
SNRNP200	23020	broad.mit.edu	37	2	96956468	96956469	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:96956468_96956469GG>AA	uc002svu.3	-	18	2638_2639	c.2506_2507CC>TT	c.(2506-2508)cca>TTa	p.P836L		NM_014014	NP_054733	O75643	U520_HUMAN	Homo sapiens small nuclear ribonucleoprotein 200kDa (U5) (SNRNP200), mRNA.	836	Helicase C-terminal 1.					U5 snRNP|catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						CCCCTTCTCTGGACTGTACACC	0.485000														68			36		0	0	6.4e-05	0	0
CSPG4	1464	broad.mit.edu	37	15	75981934	75981934	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr15:75981934C>T	uc002baw.3	-	2	1565	c.1472G>A	c.(1471-1473)cGa>cAa	p.R491Q		NM_001897	NP_001888	Q6UVK1	CSPG4_HUMAN	Homo sapiens chondroitin sulfate proteoglycan 4 (CSPG4), mRNA.	491	Globular or compact configuration stabilized by disulfide bonds.|Neurite growth inhibition (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						GAACATTTTTCGTGCCTGGGC	0.637000														22			50		0	0	0.00361006	0	0
NBAS	51594	broad.mit.edu	37	2	15674761	15674761	+	Nonsense_Mutation	SNP	C	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:15674761C>A	uc002rcc.1	-	8	678	c.652G>T	c.(652-654)Gga>Tga	p.G218*	NBAS_uc002rcd.1_Non-coding_Transcript	NM_015909	NP_056993	A2RRP1	NBAS_HUMAN	Homo sapiens neuroblastoma amplified sequence (NBAS), mRNA.	218										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						TGATTTGTTCCAACACTAAAT	0.343000														149			7		0.00198382	0.00617672	0.00198382	1	0
CLECL1	160365	broad.mit.edu	37	12	9885732	9885732	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:9885732C>T	uc001qwi.3	-	0	164	c.129G>A	c.(127-129)agG>agA	p.R43R	CLECL1_uc001qwj.3_Silent_p.R43R	NM_001253750	NP_001240679	Q8IZS7	CLCL1_HUMAN	Homo sapiens C-type lectin-like 1 (CLECL1), transcript variant 3, mRNA.	43						integral to membrane|plasma membrane	sugar binding			breast(1)|kidney(1)|large_intestine(4)|lung(3)	9						TGGCAAATTTCCTTCTGCTCC	0.388000														43			15		0	0	0.00316338	0	0
B3GALT1	8708	broad.mit.edu	37	2	168726220	168726220	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:168726220G>A	uc021vsc.1	+	0	671	c.671G>A	c.(670-672)aGg>aAg	p.R224K	B3GALT1_uc002udz.1_Missense_Mutation_p.R224K	NM_020981	NP_066191	Q9Y5Z6	B3GT1_HUMAN	Homo sapiens UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 1 (B3GALT1), mRNA.	224					lipid glycosylation|protein glycosylation	Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity	p.R224R(1)		cervix(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	18						TATATGCCCAGGGATTTGTAC	0.478000														43			20		0	0	0.00188189	0	0
MOGAT1	116255	broad.mit.edu	37	2	223553217	223553217	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:223553217C>T	uc010fws.1	+	1	297	c.249C>T	c.(247-249)caC>caT	p.H83H	MOGAT1_uc010fwt.1_Silent_p.H43H	NM_058165	NP_477513	Q96PD6	MOGT1_HUMAN	Homo sapiens monoacylglycerol O-acyltransferase 1 (MOGAT1), mRNA.	83					glycerol metabolic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity			breast(1)|cervix(1)|endometrium(1)|lung(5)|urinary_tract(1)	9		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;2.06e-07)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0105)		TTTGGAAACACTTTAAGGACT	0.363000														17			10		0	0	0.000442599	0	0
PDS5A	23244	broad.mit.edu	37	4	39929623	39929623	+	Silent	SNP	G	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr4:39929623G>T	uc003guv.4	-	2	840	c.300C>A	c.(298-300)atC>atA	p.I100I	PDS5A_uc003guw.4_Silent_p.I100I	NM_001100399	NP_001093869	Q29RF7	PDS5A_HUMAN	Homo sapiens PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae) (PDS5A), transcript variant 1, mRNA.	100					cell division|mitosis|negative regulation of DNA replication	chromatin|nucleus	identical protein binding			breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						CTGGGGCATAGATACGAAAGA	0.398000														19			7		1.06961e-07	3.36151e-07	0.00307968	1	0
GUCY1B3	2983	broad.mit.edu	37	4	156716575	156716575	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr4:156716575C>A	uc003ipc.3	+	6	976	c.809C>A	c.(808-810)tCt>tAt	p.S270Y	GUCY1B3_uc011cio.2_Missense_Mutation_p.S292Y|GUCY1B3_uc011cip.2_Missense_Mutation_p.S250Y|GUCY1B3_uc003ipd.3_Missense_Mutation_p.S198Y|GUCY1B3_uc010iqf.3_Missense_Mutation_p.S270Y|GUCY1B3_uc010iqg.3_Missense_Mutation_p.S198Y|GUCY1B3_uc011ciq.2_Missense_Mutation_p.S198Y	NM_000857	NP_000848	Q02153	GCYB1_HUMAN	Homo sapiens guanylate cyclase 1, soluble, beta 3 (GUCY1B3), mRNA.	270					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble|intracellular membrane-bounded organelle	GTP binding|guanylate cyclase activity|receptor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.148)		GGGATCCTTTCTCACATCAAT	0.378000														53			33		9.65963e-10	3.04225e-09	0.00327116	1	0
PCDHGC5	56097	broad.mit.edu	37	5	140740672	140740672	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:140740672C>T	uc003ljs.2	+	0	970	c.970C>T	c.(970-972)Cct>Tct	p.P324S	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc011dar.2_Missense_Mutation_p.P324S	NM_018923	NP_061746	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 2 (PCDHGB2), transcript variant 1, mRNA.	325	Cadherin 3.				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)			AGCAAAAGATCCTGGAGATCT	0.393000														21			9		0	0	0.000673444	0	0
C6orf221	154288	broad.mit.edu	37	6	74073510	74073510	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:74073510C>T	uc003pgt.4	+	2	634	c.581C>T	c.(580-582)tCc>tTc	p.S194F		NM_001017361	NP_001017361	Q587J8	ECAT1_HUMAN	Homo sapiens chromosome 6 open reading frame 221 (C6orf221), mRNA.	194										NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(2)|stomach(1)	19						ACCCAGCGATCCCCCGAAGCT	0.642000														19			10		0	0	0.00136819	0	0
DAPK2	23604	broad.mit.edu	37	15	64222634	64222634	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr15:64222634C>T	uc002amr.3	-	5	635	c.604G>A	c.(604-606)Gag>Aag	p.E202K	DAPK2_uc010uim.2_Non-coding_Transcript|DAPK2_uc010bgu.1_Missense_Mutation_p.E192K	NM_014326	NP_055141	Q9UIK4	DAPK2_HUMAN	Homo sapiens death-associated protein kinase 2 (DAPK2), mRNA.	202	Protein kinase.				apoptosis|induction of apoptosis|intracellular protein kinase cascade	cytoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|identical protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	11				LUAD - Lung adenocarcinoma(2;0.215)		CCCAGGGGCTCGTAGTTCACA	0.478000														44			52		0	0	0.00361006	0	0
OR9A2	135924	broad.mit.edu	37	7	142723739	142723739	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:142723739G>A	uc003wcc.1	-	0	481	c.481C>T	c.(481-483)Cag>Tag	p.Q161*		NM_001001658	NP_001001658	Q8NGT5	OR9A2_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily A, member 2 (OR9A2), mRNA.	161					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(3)|endometrium(4)|large_intestine(1)|lung(14)|skin(3)	25	Melanoma(164;0.059)					AAGGTAAACTGAAATGTGGCA	0.403000														48			24		0	0	0.00229938	0	0
DRD2	1813	broad.mit.edu	37	11	113286233	113286233	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:113286233C>T	uc001pnz.3	-	3	954	c.633G>A	c.(631-633)aaG>aaA	p.K211K	DRD2_uc010rwv.2_Silent_p.K210K|DRD2_uc001poa.4_Silent_p.K211K|DRD2_uc001pob.4_Silent_p.K211K|DRD2_uc009yyr.1_Silent_p.K211K	NM_000795	NP_000786	P14416	DRD2_HUMAN	Homo sapiens dopamine receptor D2 (DRD2), transcript variant 1, mRNA.	211	Interaction with PPP1R9B (By similarity).				activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning	integral to plasma membrane	dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	39		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624)	CAATGTAGATCTTGATGTAGA	0.562000														28			25		0	0	0.00395357	0	0
RAD23A	5886	broad.mit.edu	37	19	13058990	13058990	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:13058990G>A	uc002mvw.1	+	3	344	c.235_splice	c.e3-1	p.T79_splice	RAD23A_uc002mvz.1_Splice_Site_p.T79_splice|RAD23A_uc010xmw.1_Splice_Site	NM_005053	NP_005044	P54725	RD23A_HUMAN	Homo sapiens RAD23 homolog A (S. cerevisiae) (RAD23A), mRNA.	79	Ubiquitin-like.				interspecies interaction between organisms|nucleotide-excision repair|positive regulation of viral genome replication|proteasomal ubiquitin-dependent protein catabolic process|regulation of proteasomal ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	damaged DNA binding|polyubiquitin binding|single-stranded DNA binding			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)	12						TGCTGTTGCAGACCAAAGCCG	0.622000								Nucleotide excision repair (NER)						28			13		0	0	0.00244969	0	0
KCNAB1	7881	broad.mit.edu	37	3	156249266	156249266	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:156249266G>A	uc003far.2	+	12	1214	c.1150G>A	c.(1150-1152)Gaa>Aaa	p.E384K	KCNAB1_uc011bon.1_Missense_Mutation_p.E355K|KCNAB1_uc003fas.2_Missense_Mutation_p.E373K|KCNAB1_uc003fat.2_Missense_Mutation_p.E366K|KCNAB1_uc010hvt.1_Missense_Mutation_p.E337K|KCNAB1_uc011boo.1_Missense_Mutation_p.E260K	NM_172160	NP_751892	Q14722	KCAB1_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, beta member 1 (KCNAB1), transcript variant 1, mRNA.	384						cytoplasm|integral to membrane	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity	p.E384D(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			ACAACTCATTGAAAACCTTGG	0.512000														73			32		0	0	0.00327116	0	0
YSK4	80122	broad.mit.edu	37	2	135741363	135741363	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:135741363C>T	uc002tue.1	-	7	3136	c.3105G>A	c.(3103-3105)agG>agA	p.R1035R	YSK4_uc002tuf.1_Silent_p.R217R|YSK4_uc010fnc.1_Silent_p.R217R|YSK4_uc010fnd.1_Silent_p.R922R|YSK4_uc010zbg.1_Intron|YSK4_uc021vpz.1_5'Flank|YSK4_uc002tuh.4_Silent_p.R763R|YSK4_uc002tui.4_Silent_p.R1052R	NM_025052	NP_079328	Q56UN5	YSK4_HUMAN	Homo sapiens YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae) (YSK4), transcript variant 1, mRNA.	1035							ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(221;0.112)		ATTTCTCCTCCCTGTCATATA	0.398000														51			21		0	0	0.00332997	0	0
ANKRD12	23253	broad.mit.edu	37	18	9255997	9255997	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr18:9255997A>C	uc002knv.3	+	8	2996	c.2732A>C	c.(2731-2733)cAt>cCt	p.H911P	ANKRD12_uc002knw.3_Missense_Mutation_p.H888P|ANKRD12_uc002knx.3_Missense_Mutation_p.H888P|ANKRD12_uc010dkx.1_Missense_Mutation_p.H618P	NM_015208	NP_056023	Q6UB98	ANR12_HUMAN	Homo sapiens ankyrin repeat domain 12 (ANKRD12), transcript variant 1, mRNA.	911						nucleus				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						GATAGGAAACATGACAAAGAA	0.338000														7			3		0	0	0.00024832	0	0
RHOT1	55288	broad.mit.edu	37	17	30527974	30527974	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr17:30527974G>A	uc002hgw.3	+	14	1340	c.1101_splice	c.e14-1	p.T367_splice	RHOT1_uc002hgy.3_Splice_Site_p.T367_splice|RHOT1_uc002hgz.3_Splice_Site_p.T367_splice|RHOT1_uc002hha.3_Splice_Site_p.T240_splice|RHOT1_uc010csv.3_Splice_Site|RHOT1_uc002hgx.3_Splice_Site_p.T240_splice|RHOT1_uc010wby.2_Splice_Site_p.T367_splice|RHOT1_uc002hhb.3_Splice_Site_p.T346_splice|RHOT1_uc002hgv.3_Splice_Site_p.T367_splice	NM_001033568	NP_001028740	Q8IXI2	MIRO1_HUMAN	Homo sapiens ras homolog gene family, member T1 (RHOT1), transcript variant 1, mRNA.	367					apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to mitochondrial outer membrane|plasma membrane	GTP binding|GTPase activity|calcium ion binding|protein binding			NS(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28		Myeloproliferative disorder(56;0.0255)|Breast(31;0.116)|Ovarian(249;0.182)				TTCTTTCATAGGCTCACGACT	0.363000														52			43		0	0	0.00285205	0	0
MED12L	116931	broad.mit.edu	37	3	151105774	151105774	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:151105774C>T	uc003eyp.3	+	34	5289	c.5160C>T	c.(5158-5160)ccC>ccT	p.P1720P	MED12L_uc011bnz.2_Silent_p.P1580P|MED12L_uc003eyy.1_Silent_p.P883P	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	Homo sapiens mediator complex subunit 12-like (MED12L), mRNA.	1720					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TGCCCAAGCCCCGCAGTTACT	0.587000														22			8		0	0	0.00307968	0	0
MYH11	4629	broad.mit.edu	37	16	15841453	15841453	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr16:15841453C>T	uc002ddx.3	-	19	2513	c.2406G>A	c.(2404-2406)gcG>gcA	p.A802A	MYH11_uc002ddv.3_Silent_p.A802A|MYH11_uc002ddw.3_Silent_p.A795A|MYH11_uc002ddy.3_Silent_p.A795A|MYH11_uc010bvg.3_Silent_p.A627A	NM_001040114	NP_001035203	P35749	MYH11_HUMAN	Homo sapiens myosin, heavy chain 11, smooth muscle (MYH11), transcript variant SM1B, mRNA.	795	IQ.				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	p.A802S(1)		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						CACGACACATCGCCTGGAAGG	0.512000			T	CBFB	AML									62			28		0	0	0.00327116	0	0
MAEL	84944	broad.mit.edu	37	1	166959042	166959043	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:166959042_166959043GG>AA	uc001gdy.1	+	1	272_273	c.201_202GG>AA	c.(199-204)aaggac>aaAAac	p.D68N	MAEL_uc021peh.1_Missense_Mutation_p.D12N|MAEL_uc001gdz.1_Intron|MAEL_uc009wvf.1_5'Flank	NM_032858	NP_116247	Q96JY0	MAEL_HUMAN	Homo sapiens maelstrom homolog (Drosophila) (MAEL), mRNA.	68					DNA methylation involved in gamete generation|cell differentiation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis	piP-body	DNA binding			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4)	28						CTCAGGGAAAGGACCCTGGGCC	0.500000														37			11		0	0	6.4e-05	0	0
C7orf58	79974	broad.mit.edu	37	7	120884392	120884392	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:120884392G>A	uc003vjq.4	+	18	2757	c.2310_splice	c.e18+1	p.K770_splice	C7orf58_uc003vjs.4_Splice_Site_p.K770_splice|C7orf58_uc003vjt.4_Splice_Site_p.K550_splice	NM_024913	NP_079189	A4D0V7	CG058_HUMAN	Homo sapiens chromosome 7 open reading frame 58 (C7orf58), transcript variant 1, mRNA.	770						endoplasmic reticulum				breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	66	all_neural(327;0.117)					GAGGAAGGAAGGTAGGTTCTG	0.478000														39			12		0	0	0.00185496	0	0
TLE4	7091	broad.mit.edu	37	9	82322050	82322050	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr9:82322050G>A	uc004ald.3	+	11	1777	c.928G>A	c.(928-930)Ggg>Agg	p.G310R	TLE4_uc004alc.3_Intron|TLE4_uc010mpr.3_Intron|TLE4_uc004ale.3_Intron|TLE4_uc011lsq.2_Intron|TLE4_uc010mps.3_Intron|TLE4_uc004alf.3_Intron	NM_007005	NP_008936	O60756	BCE1_HUMAN	Homo sapiens transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila) (TLE4), mRNA.	0										breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						GAGGGATATGGGGAAATTGAG	0.368000														99			80		0	0	0.00361006	0	0
TPTE	7179	broad.mit.edu	37	21	10934955	10934955	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr21:10934955G>A	uc002yip.1	-	14	1206	c.838C>T	c.(838-840)Cga>Tga	p.R280*	TPTE_uc002yis.1_Non-coding_Transcript|TPTE_uc002yiq.1_Nonsense_Mutation_p.R262*|TPTE_uc002yir.1_Nonsense_Mutation_p.R242*|TPTE_uc010gkv.1_Nonsense_Mutation_p.R142*	NM_199261	NP_954870	P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA.	280	Phosphatase tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.R262*(2)|p.R280M(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)		TTGTAGACTCGATAGTGGTTT	0.333000														156			15		0	0	0.000958276	0	0
HTT	3064	broad.mit.edu	37	4	3230432	3230432	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr4:3230432C>T	uc021xkv.1	+	57	8084	c.7939C>T	c.(7939-7941)Cct>Tct	p.P2647S		NM_002111	NP_002102	P42858	HD_HUMAN	Homo sapiens huntingtin (HTT), mRNA.	2647					Golgi organization|establishment of mitotic spindle orientation|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	Golgi apparatus|autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		ggCCGACGCCCCTGCACCTTC	0.517000														25			7		0	0	0.00307968	0	0
MB21D2	151963	broad.mit.edu	37	3	192516332	192516332	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:192516332G>A	uc011bsp.2	-	1	1640	c.1319C>T	c.(1318-1320)cCa>cTa	p.P440L		NM_178496	NP_848591	Q8IYB1	M21D2_HUMAN	Homo sapiens Mab-21 domain containing 2 (MB21D2), mRNA.	440										endometrium(3)|kidney(1)|large_intestine(4)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	31						GTCAGACTGTGGAGAGGGGAT	0.582000														62			27		0	0	0.00209593	0	0
PRKDC	5591	broad.mit.edu	37	8	48751729	48751729	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr8:48751729G>A	uc003xqi.3	-	56	7587	c.7530C>T	c.(7528-7530)atC>atT	p.I2510I	PRKDC_uc003xqj.3_Silent_p.I2510I	NM_006904	NP_008835	P78527	PRKDC_HUMAN	Homo sapiens protein kinase, DNA-activated, catalytic polypeptide (PRKDC), transcript variant 1, mRNA.	2511	KIP-binding.				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				GGTTCTCATCGATCAATCCTT	0.388000								Non-homologous end-joining						27			16		0	0	0.00152264	0	0
CIC	23152	broad.mit.edu	37	19	42794781	42794781	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:42794781C>T	uc002otf.1	+	9	1901	c.1861C>T	c.(1861-1863)Ccc>Tcc	p.P621S		NM_015125	NP_055940	Q96RK0	CIC_HUMAN	Homo sapiens capicua homolog (Drosophila) (CIC), mRNA.	621	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	p.P621L(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CGCGGCCCCTCCCAGCGGAGG	0.672000			"""Mis, F, S"""		oligodendroglioma									43			32		0	0	0.0024448	0	0
ATP13A5	344905	broad.mit.edu	37	3	193031955	193031955	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:193031955A>G	uc011bsq.2	-	18	2186	c.2186T>C	c.(2185-2187)gTt>gCt	p.V729A		NM_198505	NP_940907	Q4VNC0	AT135_HUMAN	Homo sapiens ATPase type 13A5 (ATP13A5), mRNA.	729					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		ATTCTTTGCAACAGTAATGGC	0.463000														73			18		0	0	0.000958276	0	0
ZCWPW1	55063	broad.mit.edu	37	7	100004369	100004369	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:100004369G>T	uc003uut.3	-	11	1366	c.1118C>A	c.(1117-1119)cCa>cAa	p.P373Q	ZCWPW1_uc011kjq.2_Missense_Mutation_p.P253Q|ZCWPW1_uc003uur.3_Missense_Mutation_p.P253Q|ZCWPW1_uc003uus.3_Missense_Mutation_p.P253Q|ZCWPW1_uc011kjr.2_Missense_Mutation_p.P373Q|ZCWPW1_uc003uuu.1_Missense_Mutation_p.P374Q|ZCWPW1_uc011kjp.2_Non-coding_Transcript	NM_017984	NP_060454	Q9H0M4	ZCPW1_HUMAN	Homo sapiens zinc finger, CW type with PWWP domain 1 (ZCWPW1), mRNA.	373	PWWP.						zinc ion binding			breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CATGTTGACTGGGATCCATGC	0.448000														60			20		1.50039e-11	4.72944e-11	0.00188189	1	0
ABCA3	21	broad.mit.edu	37	16	2331480	2331480	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr16:2331480G>A	uc002cpy.1	-	26	4778	c.4066C>T	c.(4066-4068)Cct>Tct	p.P1356S	ABCA3_uc010bsk.1_Missense_Mutation_p.P1298S	NM_001089	NP_001080	Q99758	ABCA3_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 3 (ABCA3), mRNA.	1356					response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)				TGGTCCTCAGGAAGCACAGGC	0.597000														20			15		0	0	0.000566183	0	0
TAS2R60	338398	broad.mit.edu	37	7	143140926	143140926	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:143140926C>T	uc011ktg.2	+	0	381	c.381C>T	c.(379-381)caC>caT	p.H127H	LOC285965_uc003wda.3_Intron	NM_177437	NP_803186	P59551	T2R60_HUMAN	Homo sapiens taste receptor, type 2, member 60 (TAS2R60), mRNA.	127					sensory perception of bitter taste	integral to membrane	G-protein coupled receptor activity			breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2)	31	Melanoma(164;0.172)					CCTTCACCCACCCTGTCTTCT	0.483000														126			59		0	0	0.00361006	0	0
PLCE1	51196	broad.mit.edu	37	10	96084175	96084175	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr10:96084175G>A	uc001kjk.3	+	30	7205	c.6571G>A	c.(6571-6573)Gaa>Aaa	p.E2191K	PLCE1_uc010qnx.2_Missense_Mutation_p.E2175K|PLCE1_uc001kjm.3_Missense_Mutation_p.E1883K|PLCE1_uc001kjp.3_Missense_Mutation_p.E549K	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN	Homo sapiens phospholipase C, epsilon 1 (PLCE1), transcript variant 1, mRNA.	2191	Ras-associating 2.				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)				TGTGCTTTTGGAAGAGGTGGT	0.448000														79			69		0	0	0.00361006	0	0
CREBBP	1387	broad.mit.edu	37	16	3779649	3779649	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr16:3779649C>T	uc002cvv.3	-	30	5603	c.5399G>A	c.(5398-5400)cGg>cAg	p.R1800Q	CREBBP_uc002cvw.3_Missense_Mutation_p.R1762Q	NM_004380	NP_004371	Q92793	CBP_HUMAN	Homo sapiens CREB binding protein (CREBBP), transcript variant 1, mRNA.	1800	Interaction with TRERF1.				N-terminal peptidyl-lysine acetylation|cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	MyoD binding|histone acetyltransferase activity|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		CTGCACCACCCGCTTCATCTT	0.652000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome							30			19		0	0	0.00074312	0	0
METTL2B	55798	broad.mit.edu	37	7	128119245	128119245	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:128119245A>C	uc003vnf.3	+	2	273	c.236A>C	c.(235-237)aAt>aCt	p.N79T	METTL2B_uc003vng.3_Missense_Mutation_p.N14T|METTL2B_uc011kop.2_5'UTR	NM_018396	NP_060866	Q6P1Q9	MTL2B_HUMAN	Homo sapiens methyltransferase like 2B (METTL2B), mRNA.	79							methyltransferase activity			breast(1)|cervix(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						AAATACTGGAATGACTTCTAC	0.323000														27			12		0	0	0.00074312	0	0
NAT16	375607	broad.mit.edu	37	7	100815612	100815612	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:100815612G>A	uc003uxy.2	-	3	1097	c.858C>T	c.(856-858)atC>atT	p.I286I	NAT16_uc003uxz.2_Silent_p.I286I	NM_198571	NP_940973	Q8N8M0	CG052_HUMAN	Homo sapiens N-acetyltransferase 16 (GCN5-related, putative) (NAT16), mRNA.	286							N-acetyltransferase activity										CTCCGTGCGGGATGGGGAAGG	0.716000														9			5		0	0	0.000602214	0	0
FAM26E	254228	broad.mit.edu	37	6	116836900	116836900	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:116836900G>A	uc003pwy.3	+	1	730	c.678G>A	c.(676-678)ttG>ttA	p.L226L	BET3L_uc011ebh.2_Intron	NM_153711	NP_714922	Q8N5C1	FA26E_HUMAN	Homo sapiens family with sequence similarity 26, member E (FAM26E), mRNA.	226						integral to membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	7		all_cancers(87;0.0608)|all_epithelial(87;0.05)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0242)|all cancers(137;0.0419)|OV - Ovarian serous cystadenocarcinoma(136;0.0671)|Epithelial(106;0.212)		AGGAGCAGTTGGAAAATACAT	0.438000														56			33		0	0	0.000953801	0	0
RRN3	54700	broad.mit.edu	37	16	15179506	15179506	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr16:15179506A>T	uc002dde.3	-	5	590	c.522T>A	c.(520-522)gaT>gaA	p.D174E	PDXDC1_uc002ddc.3_Intron|RRN3_uc010uzp.2_Missense_Mutation_p.D75E|RRN3_uc010uzq.2_Missense_Mutation_p.D144E|RRN3_uc002ddf.1_Missense_Mutation_p.D174E	NM_018427	NP_060897	Q9NYV6	RRN3_HUMAN	Homo sapiens RRN3 RNA polymerase I transcription factor homolog (S. cerevisiae) (RRN3), mRNA.	174					regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase I promoter	nucleolus|nucleoplasm				NS(2)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)	20						TATCATCTTCATCATCAGAAT	0.403000														17			12		0	0	0.00185496	0	0
SLC17A8	246213	broad.mit.edu	37	12	100813746	100813746	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:100813746G>A	uc010svi.2	+	11	1892	c.1579G>A	c.(1579-1581)Gaa>Aaa	p.E527K	SLC17A8_uc009ztx.3_Missense_Mutation_p.E477K	NM_139319	NP_647480	Q8NDX2	VGLU3_HUMAN	Homo sapiens solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 8 (SLC17A8), transcript variant 1, mRNA.	527					neurotransmitter transport|sensory perception of sound|sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						TGACCAGGACGAATTAGCTGA	0.468000														23			10		0	0	0.000442599	0	0
HTRA1	5654	broad.mit.edu	37	10	124271522	124271522	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr10:124271522C>T	uc001lgj.2	+	7	1343	c.1215C>T	c.(1213-1215)ttC>ttT	p.F405F		NM_002775	NP_002766	Q92743	HTRA1_HUMAN	Homo sapiens HtrA serine peptidase 1 (HTRA1), mRNA.	405	PDZ.				proteolysis|regulation of cell growth	extracellular space	insulin-like growth factor binding|serine-type endopeptidase activity			endometrium(1)|kidney(1)|large_intestine(8)|lung(7)	17		all_neural(114;0.0765)|Lung NSC(174;0.133)|all_lung(145;0.163)|Breast(234;0.238)				ACCGGGACTTCCCAGACGTGA	0.483000														26			23		0	0	0.00106085	0	0
CELSR1	9620	broad.mit.edu	37	22	46780573	46780573	+	Silent	SNP	G	A	A	rs147996421	byFrequency	TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr22:46780573G>A	uc003bhw.1	-	19	6750	c.6750C>T	c.(6748-6750)gtC>gtT	p.V2250V	CELSR1_uc011arc.1_Silent_p.V571V	NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 1 (flamingo homolog, Drosophila) (CELSR1), mRNA.	2250					central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		CAAAGATGTCGACAGCAAGAA	0.517000														42			17		0	0	0.00188189	0	0
BIN3	55909	broad.mit.edu	37	8	22481737	22481737	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr8:22481737G>A	uc003xcl.3	-	6	575	c.478C>T	c.(478-480)Cag>Tag	p.Q160*	BIN3_uc010ltw.3_Nonsense_Mutation_p.Q106*	NM_018688	NP_061158	Q9NQY0	BIN3_HUMAN	Homo sapiens bridging integrator 3 (BIN3), mRNA.	160	BAR.				actin filament organization|barrier septum formation|cell cycle|protein localization|unidimensional cell growth	cytoplasm|cytoskeleton	cytoskeletal adaptor activity			kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	9		Prostate(55;0.0424)|Breast(100;0.102)|all_epithelial(46;0.143)		BRCA - Breast invasive adenocarcinoma(99;0.00664)|Colorectal(74;0.0189)|COAD - Colon adenocarcinoma(73;0.0727)		CCTGGTACCTGGTGGAGCTTG	0.627000														24			10		0	0	0.00136819	0	0
RBFOX1	54715	broad.mit.edu	37	16	7645595	7645595	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr16:7645595G>A	uc002cys.2	+	7	1501	c.513G>A	c.(511-513)agG>agA	p.R171R	RBFOX1_uc010buf.1_Silent_p.R171R|RBFOX1_uc002cyr.1_Silent_p.R170R|RBFOX1_uc002cyt.2_Silent_p.R171R|RBFOX1_uc010uxz.1_Silent_p.R214R|RBFOX1_uc010uya.1_Intron|RBFOX1_uc002cyv.1_Silent_p.R171R|RBFOX1_uc010uyb.1_Silent_p.R171R|RBFOX1_uc002cyw.2_Silent_p.R191R|RBFOX1_uc002cyy.2_Silent_p.R191R|RBFOX1_uc002cyx.2_Silent_p.R191R|RBFOX1_uc010uyc.1_Silent_p.R191R	NM_018723	NP_061193	Q9NWB1	RFOX1_HUMAN	Homo sapiens RNA binding protein, fox-1 homolog (C. elegans) 1 (RBFOX1), transcript variant 4, mRNA.	171	RRM.				RNA splicing|RNA transport|mRNA processing	nucleus|trans-Golgi network	RNA binding|nucleotide binding|protein C-terminus binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						ATGCGGACAGGGCGAGGGAGA	0.428000														88			24		0	0	0.00127121	0	0
CFLAR	8837	broad.mit.edu	37	2	201994671	201994671	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:201994671T>C	uc002uxb.4	+	1	548	c.83T>C	c.(82-84)gTt>gCt	p.V28A	CFLAR_uc002uwy.3_Missense_Mutation_p.V28A|CFLAR_uc002uwz.3_Missense_Mutation_p.V28A|CFLAR_uc010zhk.2_Intron|CFLAR_uc010zhl.2_Intron|CFLAR_uc002uxc.4_Missense_Mutation_p.V28A|CFLAR_uc010fsw.2_Non-coding_Transcript|CFLAR_uc002uxd.4_Missense_Mutation_p.V28A|CFLAR_uc002uxe.2_Missense_Mutation_p.V28A|CFLAR_uc021vuw.1_Missense_Mutation_p.V28A|CFLAR_uc010fsx.3_Missense_Mutation_p.V28A|CFLAR_uc010fsy.3_Non-coding_Transcript|CFLAR_uc002uxf.3_Missense_Mutation_p.V28A	NM_003879	NP_001189446	O15519	CFLAR_HUMAN	Homo sapiens CASP8 and FADD-like apoptosis regulator (CFLAR), transcript variant 1, mRNA.	28	DED 1.|Interaction with FADD.|Interaction with caspase-8 propeptide.|Interaction with caspase-8.|Not proteolytically processed and involved in apoptosis inhibition.				anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis		cysteine-type endopeptidase activity|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|stomach(1)	13						TGCCGGGATGTTGCTATAGAT	0.473000														103			60		0	0	0.00361006	0	0
PRRC2B	84726	broad.mit.edu	37	9	134366900	134366900	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr9:134366900C>T	uc004can.4	+	27	6369	c.6314C>T	c.(6313-6315)tCc>tTc	p.S2105F	PRRC2B_uc004cao.4_Missense_Mutation_p.S1462F|PRRC2B_uc004cap.4_Missense_Mutation_p.S251F|PRRC2B_uc011mch.2_Missense_Mutation_p.S28F	NM_013318	NP_037450	Q5JSZ5	PRC2B_HUMAN	Homo sapiens proline-rich coiled-coil 2B (PRRC2B), mRNA.	2105							protein binding			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						CAGAGCCTCTCCGTTGGGGCC	0.672000														31			8		0	0	0.00307968	0	0
PPP6R2	9701	broad.mit.edu	37	22	50869685	50869685	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr22:50869685C>T	uc003blb.2	+	11	1631	c.1209C>T	c.(1207-1209)gcC>gcT	p.A403A	PPP6R2_uc003blc.3_Silent_p.A403A|PPP6R2_uc003bky.2_Silent_p.A403A|PPP6R2_uc003bla.2_Silent_p.A404A|PPP6R2_uc003bkz.2_Silent_p.A403A|PPP6R2_uc003bld.2_5'UTR	NM_001242898	NP_001229827	O75170	PP6R2_HUMAN	Homo sapiens protein phosphatase 6, regulatory subunit 2 (PPP6R2), transcript variant 1, mRNA.	403						cytoplasm|intracellular membrane-bounded organelle	protein binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	22						CCCACGCTGCCCGTGAGGAGA	0.577000														64			39		0	0	0.00195071	0	0
CLIP2	7461	broad.mit.edu	37	7	73752881	73752881	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:73752881C>T	uc003uam.3	+	2	552	c.225C>T	c.(223-225)ttC>ttT	p.F75F	CLIP2_uc003uan.3_Silent_p.F75F	NM_003388	NP_003379	Q9UDT6	CLIP2_HUMAN	Homo sapiens CAP-GLY domain containing linker protein 2 (CLIP2), transcript variant 1, mRNA.	75						microtubule associated complex				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						GGGATGACTTCCTGGGGGACT	0.682000														6			3		0	0	6.4e-05	0	0
DSP	1832	broad.mit.edu	37	6	7583417	7583417	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:7583417G>T	uc003mxp.1	+	23	6201	c.5922G>T	c.(5920-5922)aaG>aaT	p.K1974N	DSP_uc003mxq.1_Missense_Mutation_p.K1375N|DSP_uc021yle.1_Missense_Mutation_p.K1531N	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	1974	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)		TGAGGAAGAAGGTGACAGCAA	0.498000														53			18		6.33239e-15	1.99776e-14	0.00152264	1	0
MUC21	394263	broad.mit.edu	37	6	30955265	30955265	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:30955265C>T	uc003nsh.2	+	1	1564	c.1313C>T	c.(1312-1314)tCt>tTt	p.S438F	MUC21_uc003nsi.1_Non-coding_Transcript|MUC21_uc021yuf.1_Missense_Mutation_p.S422F	NM_001010909	NP_001010909	Q5SSG8	MUC21_HUMAN	Homo sapiens mucin 21, cell surface associated (MUC21), mRNA.	438	Ser-rich.					integral to membrane|plasma membrane				NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						GCCACCAACTCTGGGTCCAGT	0.577000														70			15		0	0	0.00400662	0	0
LGSN	51557	broad.mit.edu	37	6	63990433	63990433	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:63990433C>T	uc003peh.3	-	3	1057	c.1023G>A	c.(1021-1023)ggG>ggA	p.G341G	LGSN_uc003pei.3_Missense_Mutation_p.G201E	NM_016571	NP_057655	Q5TDP6	LGSN_HUMAN	Homo sapiens lengsin, lens protein with glutamine synthetase domain (LGSN), transcript variant 1, mRNA.	341					glutamine biosynthetic process		glutamate-ammonia ligase activity	p.G341G(2)		NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34					L-Glutamic Acid(DB00142)	ACCATTTTTTCCCAGTGATCG	0.488000														77			25		0	0	0.00106085	0	0
PKHD1	5314	broad.mit.edu	37	6	51941127	51941127	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:51941127G>A	uc003pah.1	-	5	671	c.395C>T	c.(394-396)tCc>tTc	p.S132F	PKHD1_uc003pai.3_Missense_Mutation_p.S132F	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	132					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)					CTGCGCCTTGGAAAACTGTTT	0.393000														29			15		0	0	0.00074312	0	0
KIAA1462	57608	broad.mit.edu	37	10	30336469	30336469	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr10:30336469C>T	uc009xle.2	-	1	410	c.273G>A	c.(271-273)tcG>tcA	p.S91S	KIAA1462_uc001iux.3_Silent_p.S91S|KIAA1462_uc001iuy.3_Silent_p.S91S|KIAA1462_uc001iuz.3_5'UTR	NM_020848	NP_065899	Q9P266	K1462_HUMAN	Homo sapiens KIAA1462 (KIAA1462), mRNA.	91										breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						ACCCCGCCTCCGAGGTTCTGG	0.552000														31			13		0	0	0.00316338	0	0
EPHA5	2044	broad.mit.edu	37	4	66467698	66467698	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr4:66467698G>T	uc003hcy.3	-	2	764	c.571C>A	c.(571-573)Cgt>Agt	p.R191S	EPHA5_uc003hcx.3_Missense_Mutation_p.R122S|EPHA5_uc003hcz.3_Missense_Mutation_p.R191S|EPHA5_uc011cah.2_Missense_Mutation_p.R191S|EPHA5_uc011cai.2_Missense_Mutation_p.R191S|EPHA5_uc003hda.2_Missense_Mutation_p.R191S	NM_004439	NP_004430	P54756	EPHA5_HUMAN	Homo sapiens EPH receptor A5 (EPHA5), transcript variant 1, mRNA.	191					cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						TTCATAACACGGTCACCAAGA	0.398000										TSP Lung(17;0.13)				108			7		0.00307968	0.00956451	0.00307968	1	0
ZDHHC6	64429	broad.mit.edu	37	10	114200408	114200408	+	Silent	SNP	G	T	T	rs112381350		TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr10:114200408G>T	uc001kzv.3	-	4	989	c.565C>A	c.(565-567)Cgg>Agg	p.R189R	ZDHHC6_uc001kzw.3_Silent_p.R185R|ZDHHC6_uc009xya.1_Silent_p.R189R	NM_022494	NP_071939	Q9H6R6	ZDHC6_HUMAN	Homo sapiens zinc finger, DHHC-type containing 6 (ZDHHC6), mRNA.	189						integral to membrane	acyltransferase activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Colorectal(252;0.198)		Epithelial(162;0.0291)|all cancers(201;0.117)		GGATCTCTCCGGGCTGCACTC	0.463000														51			31		4.65686e-17	1.47105e-16	0.00375469	1	0
NCKAP1L	3071	broad.mit.edu	37	12	54913090	54913090	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:54913090G>A	uc001sgc.4	+	15	1678	c.1599G>A	c.(1597-1599)gtG>gtA	p.V533V	NCKAP1L_uc010sox.2_Silent_p.V75V|NCKAP1L_uc010soy.2_Silent_p.V483V	NM_005337	NP_005328	P55160	NCKPL_HUMAN	Homo sapiens NCK-associated protein 1-like (NCKAP1L), transcript variant 1, mRNA.	533					B cell homeostasis|B cell receptor signaling pathway|T cell homeostasis|actin polymerization-dependent cell motility|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of T cell proliferation|positive regulation of actin filament polymerization|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|protein complex assembly|response to drug	SCAR complex|cytosol|integral to plasma membrane|membrane fraction	Rac GTPase activator activity|protein complex binding|protein kinase activator activity			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						AATTGCTGGTGGAAACTTCTG	0.428000														67			34		0	0	0.00170553	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144874726	144874726	+	Nonsense_Mutation	SNP	C	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:144874726C>A	uc021ouh.1	-	29	5184	c.4882G>T	c.(4882-4884)Gag>Tag	p.E1628*	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron|PDE4DIP_uc001elw.4_Nonsense_Mutation_p.E1628*|PDE4DIP_uc001elx.4_Nonsense_Mutation_p.E1584*|PDE4DIP_uc001elv.4_Nonsense_Mutation_p.E635*	NM_001198834	NP_001185763	Q5VU43	MYOME_HUMAN	Homo sapiens phosphodiesterase 4D interacting protein (PDE4DIP), transcript variant 9, mRNA.	1628	NBPF.				cellular protein complex assembly	Golgi apparatus|centrosome|myofibril|nucleus	enzyme binding	p.E1628*(3)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TGTGTGTACTCGCTGACTATG	0.527000			T	PDGFRB	MPD									382			12		0.000308642	0.000966685	0.00316338	1	0
LEP	3952	broad.mit.edu	37	7	127894690	127894690	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:127894690G>A	uc003vml.2	+	2	435	c.378G>A	c.(376-378)gaG>gaA	p.E126E	LEP_uc003vmm.2_Silent_p.E125E	NM_000230	NP_000221	P41159	LEP_HUMAN	Homo sapiens leptin (LEP), mRNA.	126					adult feeding behavior|energy reserve metabolic process|negative regulation of appetite|placenta development|positive regulation of developmental growth	extracellular space				endometrium(1)|large_intestine(2)|lung(5)	8						GTGGCCTGGAGACCTTGGACA	0.607000														37			9		0	0	0.000274275	0	0
RGS3	5998	broad.mit.edu	37	9	116269582	116269582	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr9:116269582G>A	uc004bhq.3	+	13	1310	c.1101G>A	c.(1099-1101)gaG>gaA	p.E367E	RGS3_uc004bhr.3_Silent_p.E255E|RGS3_uc004bhs.3_Silent_p.E257E|RGS3_uc004bht.3_Silent_p.E86E|RGS3_uc010muy.3_Silent_p.E86E|RGS3_uc004bhu.3_5'UTR	NM_144488	NP_652759	P49796	RGS3_HUMAN	Homo sapiens regulator of G-protein signaling 3 (RGS3), transcript variant 6, mRNA.	367	PDZ.				inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						GCCCCAGTGAGATCATCCTAC	0.627000														37			13		0	0	0.00316338	0	0
HCRTR2	3062	broad.mit.edu	37	6	55128507	55128507	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:55128507G>A	uc003pcl.3	+	3	964	c.649G>A	c.(649-651)Gaa>Aaa	p.E217K	HCRTR2_uc010jzv.3_Non-coding_Transcript|HCRTR2_uc010jzw.1_Missense_Mutation_p.E152K	NM_001526	NP_001517	O43614	OX2R_HUMAN	Homo sapiens hypocretin (orexin) receptor 2 (HCRTR2), mRNA.	217					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)			CATCCTAGGTGAAATTTATCC	0.358000														19			7		0	0	0.000274275	0	0
DNAH3	55567	broad.mit.edu	37	16	21115824	21115824	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr16:21115824C>T	uc010vbe.2	-	15	2334	c.2334G>A	c.(2332-2334)aaG>aaA	p.K778K	DNAH3_uc002die.2_Silent_p.K732K	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	778	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CCTGATCCCTCTTGTGAAGGA	0.473000														141			55		0	0	0.00361006	0	0
DNAH8	1769	broad.mit.edu	37	6	38757653	38757653	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:38757653G>A	uc021yzh.1	+	18	2767	c.2658G>A	c.(2656-2658)atG>atA	p.M886I	DNAH8_uc003ooe.2_Missense_Mutation_p.M669I	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CCCCAAAAATGAAAAAGGTTG	0.338000														57			17		0	0	0.00121646	0	0
CCDC138	165055	broad.mit.edu	37	2	109421374	109421374	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:109421374C>T	uc002ten.1	+	6	825	c.765C>T	c.(763-765)acC>acT	p.T255T	CCDC138_uc002teo.1_Silent_p.T255T|CCDC138_uc002tep.1_5'UTR|CCDC138_uc010fjm.1_5'UTR	NM_144978	NP_659415	Q96M89	CC138_HUMAN	Homo sapiens coiled-coil domain containing 138 (CCDC138), mRNA.	255								p.T255T(2)		endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	14						AACACTTAACCGAAGTTCTTA	0.353000														83			32		0	0	0.00283554	0	0
SALL3	27164	broad.mit.edu	37	18	76752138	76752138	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr18:76752138G>A	uc002lmt.3	+	1	147	c.147G>A	c.(145-147)gaG>gaA	p.E49E	SALL3_uc010dra.3_5'Flank	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN	Homo sapiens sal-like 3 (Drosophila) (SALL3), mRNA.	49					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		GGGGCGAGGAGACCAGCGTGT	0.692000														5			3		0	0	6.4e-05	0	0
OR14J1	442191	broad.mit.edu	37	6	29275144	29275144	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:29275144C>T	uc011dln.2	+	0	678	c.678C>T	c.(676-678)atC>atT	p.I226I		NM_030946	NP_112208	Q9UGF5	O14J1_HUMAN	Homo sapiens olfactory receptor, family 14, subfamily J, member 1 (OR14J1), mRNA.	226					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(2)	17						TGCTGAGAATCCCATCAGCTG	0.488000														166			43		0	0	0.00285205	0	0
MYH1	4619	broad.mit.edu	37	17	10408571	10408571	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr17:10408571C>T	uc002gmo.3	-	20	2438	c.2344G>A	c.(2344-2346)Gat>Aat	p.D782N	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	782	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						AGCTTCTCATCTCGCATCTCC	0.458000														21			17		0	0	0.00074312	0	0
MUC16	94025	broad.mit.edu	37	19	9046066	9046066	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:9046066C>T	uc002mkp.3	-	4	35769	c.35565G>A	c.(35563-35565)ggG>ggA	p.G11855G		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	11857	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						TGGTTTCTGTCCCTGGATGGG	0.488000														66			31		0	0	0.00209593	0	0
FAM57B	83723	broad.mit.edu	37	16	30038064	30038064	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr16:30038064C>T	uc002dvt.3	-	2	648	c.310G>A	c.(310-312)Ggg>Agg	p.G104R	BOLA2_uc010bzb.1_Intron	NM_031478	NP_113666	Q71RH2	FA57B_HUMAN	Homo sapiens family with sequence similarity 57, member B (FAM57B), mRNA.	104	TLC.					endoplasmic reticulum|integral to membrane				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	14						CCTCCATGCCCTTTGACCTGG	0.602000														26			9		0	0	0.000442599	0	0
IGDCC3	9543	broad.mit.edu	37	15	65628177	65628177	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr15:65628177C>T	uc002aos.2	-	2	779	c.527G>A	c.(526-528)aGa>aAa	p.R176K		NM_004884	NP_004875	Q8IVU1	IGDC3_HUMAN	Homo sapiens immunoglobulin superfamily, DCC subclass, member 3 (IGDCC3), mRNA.	176	Ig-like C2-type 2.									breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						AATTGGGACTCTGTTCTTCTC	0.587000														35			66		0	0	0.00361006	0	0
DNAH11	8701	broad.mit.edu	37	7	21827025	21827025	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:21827025G>A	uc003svc.3	+	60	9800	c.9769G>A	c.(9769-9771)Gat>Aat	p.D3257N		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	3257	Stalk (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GCAGGTTGATGATTTTTTGCA	0.343000									Kartagener syndrome					49			15		0	0	0.00152264	0	0
FAM160B1	57700	broad.mit.edu	37	10	116606378	116606378	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr10:116606378C>T	uc001lcb.3	+	10	1794	c.1459C>T	c.(1459-1461)Ctt>Ttt	p.L487F	FAM160B1_uc001lcc.3_Missense_Mutation_p.L487F	NM_020940	NP_065991	Q5W0V3	F16B1_HUMAN	Homo sapiens family with sequence similarity 160, member B1 (FAM160B1), transcript variant 1, mRNA.	487										NS(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)	25						TGAGCACATTCTTTACAACTT	0.308000														19			21		0	0	0.00152264	0	0
CDC25A	993	broad.mit.edu	37	3	48219374	48219374	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:48219374G>A	uc003csh.1	-	6	1018	c.654C>T	c.(652-654)ttC>ttT	p.F218F	CDC25A_uc003csi.1_Silent_p.F178F|CDC25A_uc021wxk.1_Silent_p.F177F	NM_001789	NP_001780	P30304	MPIP1_HUMAN	Homo sapiens cell division cycle 25 homolog A (S. pombe) (CDC25A), transcript variant 1, mRNA.	218					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	p.F218F(2)|p.F218I(1)		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)		GAAGGTCCACGAAGCCATCAT	0.448000														75			67		0	0	0.00361006	0	0
RSPH3	83861	broad.mit.edu	37	6	159398662	159398662	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:159398662G>T	uc003qrx.3	-	7	1781	c.1591C>A	c.(1591-1593)Cag>Aag	p.Q531K	RSPH3_uc010kju.3_Missense_Mutation_p.Q435K	NM_031924	NP_114130	Q86UC2	RSPH3_HUMAN	Homo sapiens radial spoke 3 homolog (Chlamydomonas) (RSPH3), mRNA.	531								p.Q531K(2)		endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|skin(1)|stomach(7)	23		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;2.36e-16)|BRCA - Breast invasive adenocarcinoma(81;5.92e-06)		TTCCTTTCCTGGGATGACCTT	0.473000														208			8		0.000157383	0.000493143	0.00307968	1	0
ELTD1	64123	broad.mit.edu	37	1	79403547	79403547	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:79403547C>T	uc001diq.4	-	5	861	c.705G>A	c.(703-705)agG>agA	p.R235R		NM_022159	NP_071442	Q9HBW9	ELTD1_HUMAN	Homo sapiens EGF, latrophilin and seven transmembrane domain containing 1 (ELTD1), mRNA.	235					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		TCTGGGATATCCTTAAAGTAG	0.353000														177			63		0	0	0.00361006	0	0
USO1	8615	broad.mit.edu	37	4	76714941	76714941	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr4:76714941G>A	uc003hiu.3	+	11	1361	c.1186G>A	c.(1186-1188)Gcg>Acg	p.A396T	USO1_uc003hiv.3_Missense_Mutation_p.A282T|USO1_uc003hiw.3_Missense_Mutation_p.A282T	NM_003715	NP_003706	O60763	USO1_HUMAN	Homo sapiens USO1 vesicle docking protein homolog (yeast) (USO1), mRNA.	447	Globular head.				intracellular protein transport|vesicle fusion with Golgi apparatus	Golgi membrane|cytosol	protein binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			CCTTGCCCATGCGTTGCAAGA	0.453000														32			17		0	0	0.00074312	0	0
TNXB	7148	broad.mit.edu	37	6	32017215	32017215	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:32017215T>A	uc003nzl.2	-	27	9785	c.9583A>T	c.(9583-9585)Acc>Tcc	p.T3195S	TNXB_uc003nzh.1_5'Flank	NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	3242					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						TACTGCACGGTGAAGGAGTCG	0.682000														326			95		0	0	0.00361006	0	0
CDKL5	6792	broad.mit.edu	37	X	18606210	18606210	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chrX:18606210C>T	uc004cym.3	+	8	944	c.691C>T	c.(691-693)Cca>Tca	p.P231S	CDKL5_uc004cyn.3_Missense_Mutation_p.P231S|CDKL5_uc022btn.1_Missense_Mutation_p.P222S	NM_003159	NP_003150	O76039	CDKL5_HUMAN	Homo sapiens cyclin-dependent kinase-like 5 (CDKL5), transcript variant I, mRNA.	231	Protein kinase.				neuron migration|positive regulation of Rac GTPase activity|positive regulation of axon extension|positive regulation of dendrite morphogenesis|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|Rac GTPase binding|cyclin-dependent protein kinase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					AGGACCACTTCCATCTGAGCA	0.443000														54			122		0	0	0.00361006	0	0
LPA	4018	broad.mit.edu	37	6	160978539	160978539	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:160978539C>T	uc003qtl.3	-	29	4816	c.4696G>A	c.(4696-4698)Gat>Aat	p.D1566N		NM_005577	NP_005568	P08519	APOA_HUMAN	Homo sapiens lipoprotein, Lp(a) (LPA), mRNA.	4074	Kringle 14.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity	p.D1566A(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	ACACACGGATCGGTTGTGTAA	0.498000														56			29		0	0	0.00106085	0	0
DCLK1	9201	broad.mit.edu	37	13	36410263	36410263	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr13:36410263C>T	uc001uvf.3	-	7	1419	c.1136G>A	c.(1135-1137)gGc>gAc	p.G379D	MAB21L1_uc001uvc.3_Intron|DCLK1_uc001uve.4_Missense_Mutation_p.G72D|DCLK1_uc010teh.2_Missense_Mutation_p.G72D|DCLK1_uc010abk.3_Intron	NM_004734	NP_004725	O15075	DCLK1_HUMAN	Homo sapiens doublecortin-like kinase 1 (DCLK1), transcript variant 1, mRNA.	379					cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		AATCTGGAAGCCTTCCTCCGA	0.353000														103			34		0	0	0.000953801	0	0
OGDHL	55753	broad.mit.edu	37	10	50959906	50959906	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr10:50959906C>T	uc009xog.3	-	4	831	c.797G>A	c.(796-798)cGg>cAg	p.R266Q	OGDHL_uc001jie.3_Missense_Mutation_p.R239Q|OGDHL_uc010qgt.2_Missense_Mutation_p.R182Q|OGDHL_uc010qgu.2_Missense_Mutation_p.R30Q|OGDHL_uc009xoh.2_Missense_Mutation_p.R30Q	NM_001143997	NP_001137469	Q9ULD0	OGDHL_HUMAN	Homo sapiens oxoglutarate dehydrogenase-like (OGDHL), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.	239					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						CAGCAGGGTCCGCTTCTCCTC	0.612000														35			29		0	0	0.00127121	0	0
CNTN2	6900	broad.mit.edu	37	1	205034298	205034298	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:205034298G>A	uc001hbr.3	+	12	1872	c.1603G>A	c.(1603-1605)Gac>Aac	p.D535N	CNTN2_uc001hbq.1_Missense_Mutation_p.D426N|CNTN2_uc001hbs.3_Missense_Mutation_p.D323N	NM_005076	NP_005067	Q02246	CNTN2_HUMAN	Homo sapiens contactin 2 (axonal) (CNTN2), mRNA.	535	Ig-like C2-type 6.				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			TGCCTCCCACGACCCCACCAT	0.547000														76			42		0	0	0.00285205	0	0
GHSR	2693	broad.mit.edu	37	3	172163185	172163185	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:172163185G>A	uc003fib.2	-	1	910	c.867C>T	c.(865-867)tcC>tcT	p.S289S	FJ355932_uc021xhj.1_5'Flank	NM_198407	NP_940799	Q92847	GHSR_HUMAN	Homo sapiens growth hormone secretagogue receptor (GHSR), transcript variant 1a, mRNA.	289					actin polymerization or depolymerization|adult feeding behavior|decidualization|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of multicellular organism growth	cell surface|integral to membrane|membrane raft|neuron projection|plasma membrane	growth hormone secretagogue receptor activity|growth hormone-releasing hormone receptor activity			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	33	Ovarian(172;0.00143)|Breast(254;0.197)		Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			CAGGCTCAAAGGATTTGGAAA	0.498000														31			10		0	0	0.000442599	0	0
CWH43	80157	broad.mit.edu	37	4	48996765	48996765	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr4:48996765G>A	uc003gyv.3	+	4	823	c.641G>A	c.(640-642)gGa>gAa	p.G214E	CWH43_uc011bzl.2_Missense_Mutation_p.G187E	NM_025087	NP_079363	Q9H720	PG2IP_HUMAN	Homo sapiens cell wall biogenesis 43 C-terminal homolog (S. cerevisiae) (CWH43), mRNA.	214					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						TGGGTTTTTGGAGAAGTCTCT	0.542000														72			27		0	0	0.00209593	0	0
SCN9A	6335	broad.mit.edu	37	2	167168110	167168110	+	Silent	SNP	A	G	G			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:167168110A>G	uc010fpl.3	-	1	498	c.157T>C	c.(157-159)Ttg>Ctg	p.L53L		NM_002977	NP_002968	Q15858	SCN9A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA.	53						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	CCAGCTTCCAAGTCACTGCTT	0.483000														94			40		0	0	0.0025221	0	0
F13B	2165	broad.mit.edu	37	1	197009727	197009727	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:197009727T>C	uc001gtt.1	-	10	1921	c.1877A>G	c.(1876-1878)tAt>tGt	p.Y626C		NM_001994	NP_001985	P05160	F13B_HUMAN	Homo sapiens coagulation factor XIII, B polypeptide (F13B), mRNA.	626	Sushi 10.				blood coagulation	extracellular region				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						TCCAGTAATATATAATTCAGC	0.313000														54			28		0	0	0.00283554	0	0
IL1R1	3554	broad.mit.edu	37	2	102781300	102781300	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:102781300C>T	uc002tbq.3	+	3	446	c.128C>T	c.(127-129)cCc>cTc	p.P43L	IL1R1_uc010fix.3_Missense_Mutation_p.P43L|IL1R1_uc002tbr.3_Missense_Mutation_p.P43L	NM_000877	NP_000868	P14778	IL1R1_HUMAN	Homo sapiens interleukin 1 receptor, type I (IL1R1), mRNA.	43	Ig-like C2-type 1.				innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity|platelet-derived growth factor receptor binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(2)|skin(3)	19					Anakinra(DB00026)	GATGTTCGTCCCTGTCCTCTT	0.368000														39			18		0	0	0.00188189	0	0
SLC7A3	84889	broad.mit.edu	37	X	70149631	70149631	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chrX:70149631C>T	uc004dyn.3	-	1	391	c.217G>A	c.(217-219)Gct>Act	p.A73T	SLC7A3_uc004dyo.3_Missense_Mutation_p.A73T	NM_032803	NP_116192	Q8WY07	CTR3_HUMAN	Homo sapiens solute carrier family 7 (cationic amino acid transporter, y+ system), member 3 (SLC7A3), transcript variant 1, mRNA.	73					cellular nitrogen compound metabolic process	integral to membrane|plasma membrane				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|urinary_tract(1)	31	Renal(35;0.156)				L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	GACAGGGCAGCCACCAAAAAG	0.572000														1			10		0	0	0.000442599	0	0
AFF3	3899	broad.mit.edu	37	2	100210149	100210149	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:100210149G>A	uc002taf.3	-	13	2193	c.2049C>T	c.(2047-2049)atC>atT	p.I683I	AFF3_uc002tag.3_Silent_p.I658I|AFF3_uc010fiq.1_Silent_p.I658I|AFF3_uc010yvr.1_Silent_p.I811I|AFF3_uc002tah.1_Silent_p.I683I	NM_001025108	NP_001020279	P51826	AFF3_HUMAN	Homo sapiens AF4/FMR2 family, member 3 (AFF3), transcript variant 2, mRNA.	658					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						ATTTGGGGACGATCCTGCTTA	0.612000														55			19		0	0	0.00229938	0	0
abParts	0	broad.mit.edu	37	14	107114020	107114020	+	RNA	SNP	C	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr14:107114020C>A	uc021ser.1	-	96		c.4209G>T								Parts of antibodies, mostly variable regions.																		CCCCAGACTCCACCAGCTGCA	0.562000														54			47		2.60171e-41	8.2326e-41	0.00361006	1	0
OR52A5	390054	broad.mit.edu	37	11	5152977	5152977	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:5152977G>A	uc010qyx.2	-	0	896	c.896C>T	c.(895-897)aCc>aTc	p.T299I		NM_001005160	NP_001005160	Q9H2C5	O52A5_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily A, member 5 (OR52A5), mRNA.	299					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(18)|skin(3)	35		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		AATTTGCTTGGTCTTCACTCC	0.363000														50			15		0	0	0.00400662	0	0
UGT2A3	79799	broad.mit.edu	37	4	69811101	69811101	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr4:69811101C>T	uc003hef.2	-	1	818	c.787G>A	c.(787-789)Gaa>Aaa	p.E263K	UGT2A3_uc010ihp.1_Non-coding_Transcript	NM_024743	NP_079019	Q6UWM9	UD2A3_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide A3 (UGT2A3), mRNA.	263						integral to membrane	glucuronosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TGAGGAAATTCAAAATCCCAA	0.373000														44			18		0	0	0.00074312	0	0
KCNH7	90134	broad.mit.edu	37	2	163302565	163302565	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:163302565G>A	uc002uch.2	-	6	1746	c.1517C>T	c.(1516-1518)cCt>cTt	p.P506L	KCNH7_uc002uci.3_Missense_Mutation_p.P499L	NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 7 (KCNH7), transcript variant 1, mRNA.	506					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	CAAGTCAAAAGGAATTGCTGC	0.348000														33			8		0	0	0.000274275	0	0
NACAP1	83955	broad.mit.edu	37	8	102381355	102381355	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr8:102381355A>T	uc003ykc.1	+	0	235	c.218A>T	c.(217-219)aAg>aTg	p.K73M	NACAP1_uc010mbs.1_Non-coding_Transcript					Homo sapiens nascent-polypeptide-associated complex alpha polypeptide pseudogene 1 (NACAP1), non-coding RNA.																		CGGAGTGAAAAGAAGGCACGG	0.463000														86			25		0	0	0.000878237	0	0
ANKRD16	54522	broad.mit.edu	37	10	5925946	5925946	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr10:5925946G>A	uc010qat.2	-	3	1216	c.673C>T	c.(673-675)Ctc>Ttc	p.L225F	ANKRD16_uc009xie.3_Missense_Mutation_p.L225F|ANKRD16_uc009xif.3_Missense_Mutation_p.L225F|ANKRD16_uc001iiq.3_Missense_Mutation_p.L225F	NM_019046	NP_061919	Q6P6B7	ANR16_HUMAN	Homo sapiens ankyrin repeat domain 16 (ANKRD16), transcript variant 1, mRNA.	225										breast(1)|endometrium(1)|large_intestine(5)|lung(3)|stomach(2)	12						TGTTCATCGAGGAGCAGCCTA	0.453000														37			12		0	0	0.00316338	0	0
DCHS1	8642	broad.mit.edu	37	11	6653988	6653988	+	Missense_Mutation	SNP	G	A	A	rs148008642	byFrequency	TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:6653988G>A	uc001mem.1	-	5	3156	c.2755C>T	c.(2755-2757)Ctt>Ttt	p.L919F		NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN	Homo sapiens dachsous 1 (Drosophila) (DCHS1), mRNA.	919	Cadherin 9.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCGGGGTCAAGAGCCCGCAGT	0.572000														6			3		0	0	0.00024832	0	0
FAT4	79633	broad.mit.edu	37	4	126242698	126242698	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr4:126242698C>T	uc003ifj.4	+	0	5132	c.5132C>T	c.(5131-5133)gCc>gTc	p.A1711V		NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	1711	Cadherin 16.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GATGTTTATGCCATAGAAAAA	0.398000														43			23		0	0	0.00278032	0	0
CYP2C19	1557	broad.mit.edu	37	10	96493144	96493144	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr10:96493144G>A	uc001kjv.4	+	7	1566	c.1240G>A	c.(1240-1242)Gat>Aat	p.D414N	CYP2C19_uc001kjw.4_Missense_Mutation_p.D355N|CYP2C19_uc009xus.1_Intron|CYP2C19_uc010qny.2_Nonsense_Mutation_p.W17*	NM_000772	NP_000763	P33261	CP2CJ_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 18 (CYP2C18), transcript variant 1, mRNA.	414					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	p.L413P(1)		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)	CCACTTTCTGGATAAGAGTGG	0.428000														28			22		0	0	0.00278032	0	0
WBP11P1	441818	broad.mit.edu	37	18	30093207	30093207	+	RNA	SNP	A	C	C			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr18:30093207A>C	uc010dmc.3	+	0		c.1582A>C								Homo sapiens WW domain binding protein 11 pseudogene 1 (WBP11P1), non-coding RNA.																		GGGAACCCCCACCAAGGATAC	0.532000														4			3		0	0	6.4e-05	0	0
KHDC1	80759	broad.mit.edu	37	6	73919610	73919610	+	RNA	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:73919610G>A	uc011dyl.1	-	7		c.1483C>T						Q4VXA5	KHDC1_HUMAN	Homo sapiens KH homology domain containing 1 (KHDC1), transcript variant 2, mRNA.							integral to membrane	RNA binding			large_intestine(1)|lung(4)|skin(1)	6						ATGAAGGTAGGAAAGAAGGGA	0.532000														3			5		0	0	0.000602214	0	0
ROS1	6098	broad.mit.edu	37	6	117700235	117700235	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:117700235G>A	uc003pxp.1	-	16	2783	c.2584C>T	c.(2584-2586)Ctt>Ttt	p.L862F	ROS1_uc011ebi.1_Non-coding_Transcript|ROS1_uc003pxq.1_Intron	NM_002944	NP_002935	P08922	ROS_HUMAN	Homo sapiens c-ros oncogene 1 , receptor tyrosine kinase (ROS1), mRNA.	862					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.V861I(1)	TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		TGTCCCCGAAGAACAGCTGTG	0.393000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""									40			16		0	0	0.000958276	0	0
H2BFWT	158983	broad.mit.edu	37	X	103267899	103267899	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chrX:103267899C>T	uc004elr.3	-	0	358	c.334G>A	c.(334-336)Gac>Aac	p.D112N		NM_001002916	NP_001002916	Q7Z2G1	H2BWT_HUMAN	Homo sapiens H2B histone family, member W, testis-specific (H2BFWT), mRNA.	112					nucleosome assembly	nuclear membrane|nucleosome	DNA binding			breast(2)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	16						TCCAATATGTCATGAACCAAA	0.632000														14			20		0	0	0.00229938	0	0
AKR1C3	8644	broad.mit.edu	37	10	5141525	5141525	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr10:5141525G>A	uc001ihr.3	+	4	637	c.454G>A	c.(454-456)Gag>Aag	p.E152K	AKR1C3_uc021pml.1_Missense_Mutation_p.E152K|AKR1C3_uc010qap.2_Missense_Mutation_p.E129K|AKR1C3_uc001ihu.3_Missense_Mutation_p.E152K	NM_003739	NP_003730	P42330	AK1C3_HUMAN	Homo sapiens aldo-keto reductase family 1, member C3 (3-alpha hydroxysteroid dehydrogenase, type II) (AKR1C3), transcript variant 1, mRNA.	152					prostaglandin metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|androsterone dehydrogenase (A-specific) activity|indanol dehydrogenase activity|prostaglandin-F synthase activity|testosterone 17-beta-dehydrogenase (NAD+) activity|testosterone 17-beta-dehydrogenase (NADP+) activity|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity	p.M151V(1)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|skin(1)	14					Dimethyl sulfoxide(DB01093)|NADH(DB00157)	ACAGGCCATGGAGAAGTGTAA	0.478000														46			23		0	0	0.00332997	0	0
RARB	5915	broad.mit.edu	37	3	25611335	25611335	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:25611335G>A	uc011awl.2	+	3	622	c.556G>A	c.(556-558)Gat>Aat	p.D186N	RARB_uc003cdi.2_Missense_Mutation_p.D67N|RARB_uc003cdh.3_Missense_Mutation_p.D179N	NM_016152	NP_057236	P10826	RARB_HUMAN	Homo sapiens retinoic acid receptor, beta (RARB), transcript variant 2, mRNA.	186	Hinge.				embryonic digestive tract development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	protein binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(3)|kidney(1)|large_intestine(10)|lung(11)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	28					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tamibarotene(DB04942)|Tazarotene(DB00799)	TGAGTTGGACGATCTCACAGA	0.483000														23			17		0	0	0.00074312	0	0
HEATR7B2	133558	broad.mit.edu	37	5	41015527	41015527	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:41015527C>T	uc003jmj.4	-	28	3428	c.2938G>A	c.(2938-2940)Gat>Aat	p.D980N	HEATR7B2_uc003jmi.4_Missense_Mutation_p.D535N	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	980							binding			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4)	133						TGCACGTCATCACTTTCCAGC	0.393000														41			27		0	0	0.00178596	0	0
SLC44A5	204962	broad.mit.edu	37	1	75684184	75684184	+	Missense_Mutation	SNP	C	T	T	rs143004355	byFrequency	TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:75684184C>T	uc010oqz.1	-	15	1703	c.1637G>A	c.(1636-1638)cGa>cAa	p.R546Q	SLC44A5_uc001dgt.2_Missense_Mutation_p.R507Q|SLC44A5_uc001dgs.2_Missense_Mutation_p.R465Q|SLC44A5_uc001dgr.2_Missense_Mutation_p.R465Q|SLC44A5_uc001dgu.3_Missense_Mutation_p.R507Q|SLC44A5_uc010ora.2_Missense_Mutation_p.R501Q|SLC44A5_uc010orb.2_Missense_Mutation_p.R377Q	NM_001130058	NP_001123530	Q8NCS7	CTL5_HUMAN	Homo sapiens solute carrier family 44, member 5 (SLC44A5), transcript variant 2, mRNA.	507						integral to membrane|plasma membrane	choline transmembrane transporter activity			kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						CCGTATGGCTCGTCCAAATGC	0.433000														70			96		0	0	0.00361006	0	0
RUFY2	55680	broad.mit.edu	37	10	70161453	70161453	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr10:70161453G>A	uc001job.3	-	2	652	c.325C>T	c.(325-327)Cct>Tct	p.P109S	RUFY2_uc001jnz.1_Non-coding_Transcript|RUFY2_uc001joc.3_Missense_Mutation_p.P74S|RUFY2_uc010qiw.2_Missense_Mutation_p.P16S|RUFY2_uc001jod.1_Missense_Mutation_p.P74S|RUFY2_uc009xpv.1_5'UTR|RUFY2_uc001joe.1_Missense_Mutation_p.P74S	NM_017987	NP_060457	Q8WXA3	RUFY2_HUMAN	Homo sapiens RUN and FYVE domain containing 2 (RUFY2), transcript variant 1, mRNA.	123	RUN.					nucleus	metal ion binding			NS(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)	20						AGTTCCAAAGGGCCCCAGATG	0.403000														16			18		0	0	0.00074312	0	0
FXYD7	53822	broad.mit.edu	37	19	35639804	35639804	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:35639804G>A	uc010xsp.1	+	1	323	c.181G>A	c.(181-183)Gga>Aga	p.G61R	FXYD7_uc002nye.1_Intron			P58549	FXYD7_HUMAN	Homo sapiens FXYD domain containing ion transport regulator 7 (FXYD7), mRNA.	0						integral to membrane	ion channel activity			NS(1)|endometrium(1)|lung(1)	3	all_lung(56;7.56e-09)|Lung NSC(56;1.1e-08)|Esophageal squamous(110;0.162)		Epithelial(14;2.32e-21)|OV - Ovarian serous cystadenocarcinoma(14;3.17e-20)|all cancers(14;2.43e-18)|LUSC - Lung squamous cell carcinoma(66;0.0849)			ACCAGATGGGGGAGTGGGGAT	0.587000														4			4		0	0	0.00024832	0	0
F13B	2165	broad.mit.edu	37	1	197026196	197026196	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:197026196G>A	uc001gtt.1	-	6	1162	c.1118C>T	c.(1117-1119)tCg>tTg	p.S373L		NM_001994	NP_001985	P05160	F13B_HUMAN	Homo sapiens coagulation factor XIII, B polypeptide (F13B), mRNA.	373	Sushi 6.				blood coagulation	extracellular region		p.S373L(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						TATCTCATTCGATCCATGGAG	0.378000														42			12		0	0	0.00185496	0	0
TBX15	6913	broad.mit.edu	37	1	119427676	119427676	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:119427676G>A	uc001ehl.1	-	7	1485	c.1170C>T	c.(1168-1170)ttC>ttT	p.F390F	TBX15_uc009whj.1_Silent_p.F214F	NM_152380	NP_689593	Q96SF7	TBX15_HUMAN	Homo sapiens T-box 15 (TBX15), mRNA.	496						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		GGCTGCCCCCGAACATGTGTG	0.552000														15			19		0	0	0.000958276	0	0
ADAMTS14	140766	broad.mit.edu	37	10	72520571	72520571	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr10:72520571C>T	uc001jrg.3	+	21	3643	c.3643C>T	c.(3643-3645)Ccc>Tcc	p.P1215S	ADAMTS14_uc001jrh.3_Missense_Mutation_p.P1212S	NM_139155	NP_631894	Q8WXS8	ATS14_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 14 (ADAMTS14), transcript variant 1, mRNA.	1212	Pro-rich.				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						CCTGAGACATCCCGGCACCAG	0.642000														8			9		0	0	0.000673444	0	0
BMP10	27302	broad.mit.edu	37	2	69093694	69093694	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:69093694G>A	uc002sez.1	-	1	503	c.344C>T	c.(343-345)tCc>tTc	p.S115F		NM_014482	NP_055297	O95393	BMP10_HUMAN	Homo sapiens bone morphogenetic protein 10 (BMP10), mRNA.	115					BMP signaling pathway|Notch signaling pathway|activin receptor signaling pathway|adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle cell proliferation|heart trabecula formation|negative regulation of cardiac muscle hypertrophy|negative regulation of cell growth|negative regulation of endothelial cell migration|pathway-restricted SMAD protein phosphorylation|positive regulation of cardiac muscle cell proliferation|positive regulation of cardiac muscle hypertrophy|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent|sarcomere organization|ventricular cardiac muscle cell development|ventricular cardiac muscle tissue morphogenesis	Z disc|cell surface|extracellular space	cytokine activity|growth factor activity|receptor serine/threonine kinase binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(15)|ovary(2)	27						GACCGGCTGGGAAAACAGATC	0.428000														23			4		0	0	0.000602214	0	0
ENAM	10117	broad.mit.edu	37	4	71510045	71510045	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr4:71510045G>A	uc011caw.1	+	8	3183	c.2902G>A	c.(2902-2904)Gaa>Aaa	p.E968K		NM_031889	NP_114095	Q9NRM1	ENAM_HUMAN	Homo sapiens enamelin (ENAM), mRNA.	968					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			GGGCCAAAAGGAAATTATGCC	0.433000														64			19		0	0	0.00152264	0	0
DLK1	8788	broad.mit.edu	37	14	101200607	101200607	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr14:101200607C>T	uc001yhs.4	+	4	730	c.526C>T	c.(526-528)Ccc>Tcc	p.P176S	DLK1_uc001yhu.4_Missense_Mutation_p.P176S|DLK1_uc021sbs.1_5'Flank	NM_003836	NP_003827	P80370	DLK1_HUMAN	Homo sapiens delta-like 1 homolog (Drosophila) (DLK1), mRNA.	176	EGF-like 5.				multicellular organismal development	extracellular space|integral to membrane|soluble fraction				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(16)|ovary(2)|prostate(1)|skin(1)	29		Melanoma(154;0.155)				CAGCTGCACCCCCAACCCATG	0.662000														18			21		0	0	0.00152264	0	0
NLRP9	338321	broad.mit.edu	37	19	56235485	56235485	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:56235485C>T	uc002qly.3	-	3	2048	c.2020G>A	c.(2020-2022)Gat>Aat	p.D674N		NM_176820	NP_789790	Q7RTR0	NALP9_HUMAN	Homo sapiens NLR family, pyrin domain containing 9 (NLRP9), mRNA.	674						cytoplasm	ATP binding			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		AATTCTGAATCATGTCCAAAG	0.413000														20			12		0	0	0.00136819	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140220910	140220910	+	Missense_Mutation	SNP	G	A	A	rs111298048	byFrequency	TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:140220910G>A	uc003lhs.2	+	0	4	c.4G>A	c.(4-6)Gat>Aat	p.D2N	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhr.1_Missense_Mutation_p.D2N	NM_018911	NP_061734	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 8 (PCDHA8), transcript variant 1, mRNA.	0					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATTTAACATGGATTATCACTG	0.473000														66			26		0	0	0.001512	0	0
NELL1	4745	broad.mit.edu	37	11	20940877	20940877	+	Silent	SNP	A	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:20940877A>T	uc009yid.3	+	7	993	c.840A>T	c.(838-840)gcA>gcT	p.A280A	NELL1_uc010rdp.2_Silent_p.A12A|NELL1_uc001mqe.3_Silent_p.A252A|NELL1_uc001mqf.3_Silent_p.A252A|NELL1_uc010rdo.2_Silent_p.A195A	NM_006157	NP_006148	Q92832	NELL1_HUMAN	Homo sapiens NEL-like 1 (chicken) (NELL1), transcript variant 1, mRNA.	252	VWFC 1.				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						AGATGACTGCAAAAGTAGGTA	0.348000														46			24		0	0	0.001512	0	0
PCDHB16	57717	broad.mit.edu	37	5	140562928	140562928	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:140562928C>T	uc003liv.3	+	0	1949	c.794C>T	c.(793-795)tCc>tTc	p.S265F		NM_020957	NP_066008	Q9NRJ7	PCDBG_HUMAN	Homo sapiens protocadherin beta 16 (PCDHB16), mRNA.	265	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	p.S265C(4)|p.S265S(1)		breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCCACCGTCTCCGCCAGGGAT	0.478000														46			19		0	0	0.00152264	0	0
THSD4	79875	broad.mit.edu	37	15	71704066	71704066	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr15:71704066G>A	uc002atb.1	+	5	1135	c.1056G>A	c.(1054-1056)atG>atA	p.M352I	THSD4_uc002atd.1_Missense_Mutation_p.M26I	NM_024817	NP_079093	Q6ZMP0	THSD4_HUMAN	Homo sapiens thrombospondin, type I, domain containing 4 (THSD4), mRNA.	352						proteinaceous extracellular matrix	metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						GCCAGGCAATGGGCTACCGCT	0.443000														15			47		0	0	0.00285205	0	0
SEMA3E	9723	broad.mit.edu	37	7	83014739	83014739	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:83014739C>T	uc003uhy.2	-	15	2367	c.1746G>A	c.(1744-1746)ttG>ttA	p.L582L	SEMA3E_uc022agy.1_Silent_p.L522L	NM_012431	NP_001171600	O15041	SEM3E_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E (SEMA3E), transcript variant 1, mRNA.	582	Ig-like C2-type.				axon guidance	extracellular space|membrane	receptor activity			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				CAGTCTTATCCAAAGCATCCC	0.363000														69			25		0	0	0.00106085	0	0
ZNF653	115950	broad.mit.edu	37	19	11609119	11609119	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:11609119C>A	uc002mrz.2	-	1	472	c.335G>T	c.(334-336)cGg>cTg	p.R112L		NM_138783	NP_620138	Q96CK0	ZN653_HUMAN	Homo sapiens zinc finger protein 653 (ZNF653), mRNA.	112					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						ACTTTTCTTCCGCTTTGGCTT	0.607000														195			6		0.00198382	0.00617672	0.00198382	1	0
SAMD9L	219285	broad.mit.edu	37	7	92760570	92760570	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:92760570G>A	uc003umh.1	-	4	5931	c.4715C>T	c.(4714-4716)tCc>tTc	p.S1572F	SAMD9L_uc003umj.1_Missense_Mutation_p.S1572F|SAMD9L_uc003umi.1_Missense_Mutation_p.S1572F|SAMD9L_uc010lfb.1_Missense_Mutation_p.S1572F|SAMD9L_uc003umk.1_Missense_Mutation_p.S1572F|SAMD9L_uc010lfc.1_Missense_Mutation_p.S1572F|SAMD9L_uc010lfd.1_Missense_Mutation_p.S1572F|SAMD9L_uc022ahh.1_Missense_Mutation_p.S1572F	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	Homo sapiens sterile alpha motif domain containing 9-like (SAMD9L), mRNA.	1572										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)			GCCTTCAATGGAAAATCCTAG	0.328000														40			15		0	0	0.000566183	0	0
LILRA1	11024	broad.mit.edu	37	19	55106793	55106793	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:55106793G>A	uc002qgh.1	+	4	769	c.587G>A	c.(586-588)aGg>aAg	p.R196K	LILRA1_uc010yfg.1_Intron|LILRA1_uc010yfh.2_Missense_Mutation_p.R196K	NM_006863	NP_006854	O75019	LIRA1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1 (LILRA1), mRNA.	196	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		TGGTCGTACAGGTGCTATGCT	0.582000														90			31		0	0	0.00283554	0	0
GUCY1A3	2982	broad.mit.edu	37	4	156618073	156618073	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr4:156618073C>T	uc003iov.3	+	3	590	c.54C>T	c.(52-54)tcC>tcT	p.S18S	GUCY1A3_uc003iou.2_Silent_p.S18S|GUCY1A3_uc010iqc.2_Silent_p.S18S|GUCY1A3_uc010iqd.3_Silent_p.S18S|GUCY1A3_uc003iow.3_Silent_p.S18S|GUCY1A3_uc003iox.3_Silent_p.S18S|GUCY1A3_uc010iqe.3_5'UTR|GUCY1A3_uc003ioy.3_Silent_p.S18S|GUCY1A3_uc003ioz.3_Intron|GUCY1A3_uc003ipa.3_Non-coding_Transcript|GUCY1A3_uc003ipb.3_Silent_p.S18S	NM_000856	NP_001124157	Q02108	GCYA3_HUMAN	Homo sapiens guanylate cyclase 1, soluble, alpha 3 (GUCY1A3), transcript variant 1, mRNA.	18					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		GTCCTTTCTCCTTACTGGCAC	0.522000														25			13		0	0	0.00185496	0	0
GPBAR1	151306	broad.mit.edu	37	2	219127952	219127952	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:219127952G>A	uc021vwu.1	+	0	505	c.505G>A	c.(505-507)Gaa>Aaa	p.E169K	GPBAR1_uc010zjx.1_Missense_Mutation_p.E169K|GPBAR1_uc010zjw.1_Missense_Mutation_p.E169K|GPBAR1_uc010zjy.1_Missense_Mutation_p.E169K	NM_170699	NP_733800	Q8TDU6	GPBAR_HUMAN	Homo sapiens G protein-coupled bile acid receptor 1 (GPBAR1), transcript variant 3, mRNA.	169						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.E169K(3)		cervix(1)|kidney(1)|large_intestine(1)|ovary(1)	4		Renal(207;0.0474)		Epithelial(149;7.19e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCTGTACCTCGAAGTCTATGG	0.662000														35			18		0	0	0.00152264	0	0
OR5M11	219487	broad.mit.edu	37	11	56310629	56310629	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:56310629G>A	uc010rjl.2	-	0	105	c.105C>T	c.(103-105)taC>taT	p.Y35Y	OR8U8_uc001nit.2_Intron	NM_001005245	NP_001005245	Q96RB7	OR5MB_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 11 (OR5M11), mRNA.	35					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)	18						GGGTGACGAGGTAAACAACCA	0.473000														41			36		0	0	0.00428921	0	0
MRM1	79922	broad.mit.edu	37	17	34964773	34964773	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr17:34964773C>T	uc002hne.3	+	4	1199	c.984C>T	c.(982-984)gcC>gcT	p.A328A	MRM1_uc002hnf.3_Silent_p.A133A	NM_024864	NP_079140	Q6IN84	MRM1_HUMAN	Homo sapiens mitochondrial rRNA methyltransferase 1 homolog (S. cerevisiae) (MRM1), nuclear gene encoding mitochondrial protein, mRNA.	328					RNA processing	mitochondrion	RNA binding|RNA methyltransferase activity			NS(1)|endometrium(1)|large_intestine(2)|lung(1)	5		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)		AACCCTCAGCCAGGTCTGAAG	0.567000														63			49		0	0	0.00361006	0	0
CYP4A11	1579	broad.mit.edu	37	1	47399937	47399937	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:47399937G>A	uc001cqp.4	-	7	1050	c.999C>T	c.(997-999)atC>atT	p.I333I	CYP4A11_uc001cqq.2_Silent_p.I333I|CYP4A11_uc010omm.1_Non-coding_Transcript	NM_000778	NP_000769	Q02928	CP4AB_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily A, polypeptide 11 (CYP4A11), mRNA.	333					long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding			endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					NADH(DB00157)	GAGCATAGAGGATCCAGGAGA	0.592000														22			7		0	0	0.00244969	0	0
ATP10A	57194	broad.mit.edu	37	15	25925961	25925961	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr15:25925961G>A	uc010ayu.3	-	18	3780	c.3674C>T	c.(3673-3675)aCc>aTc	p.T1225I		NM_024490	NP_077816	O60312	AT10A_HUMAN	Homo sapiens ATPase, class V, type 10A (ATP10A), mRNA.	1225					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.K1224N(1)		NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		TCTTACCCAGGTTTTGGTTTC	0.557000														42			36		0	0	0.00111076	0	0
CFHR2	3080	broad.mit.edu	37	1	196928202	196928202	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:196928202G>A	uc001gtq.1	+	4	882	c.805G>A	c.(805-807)Gaa>Aaa	p.E269K	CFHR2_uc001gtr.1_Missense_Mutation_p.E145K	NM_005666	NP_005657	P36980	FHR2_HUMAN	Homo sapiens complement factor H-related 2 (CFHR2), mRNA.	269						extracellular region				large_intestine(2)|ovary(1)|skin(3)	6						CAGTTGTGAAGAAAAATAGAA	0.294000														35			15		0	0	0.000566183	0	0
RCN1	5954	broad.mit.edu	37	11	32124946	32124946	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:32124946C>T	uc010reb.2	+	4	1074	c.808C>T	c.(808-810)Cgc>Tgc	p.R270C	RCN1_uc021qfp.1_Missense_Mutation_p.R104C|RCN1_uc001mtk.3_Missense_Mutation_p.R104C	NM_002901	NP_002892	Q15293	RCN1_HUMAN	Homo sapiens reticulocalbin 1, EF-hand calcium binding domain (RCN1), mRNA.	270	EF-hand 5.					endoplasmic reticulum lumen	calcium ion binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(6)	17	Lung SC(675;0.225)					AGATGAGATTCGCCACTGGAT	0.473000														60			30		0	0	0.0024448	0	0
ANK3	288	broad.mit.edu	37	10	61898789	61898789	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr10:61898789C>T	uc001jky.3	-	23	3009	c.2671G>A	c.(2671-2673)Gaa>Aaa	p.E891K	ANK3_uc001jkw.3_Missense_Mutation_p.E25K|ANK3_uc009xpa.3_Missense_Mutation_p.E25K|ANK3_uc001jkx.3_Missense_Mutation_p.E69K|ANK3_uc010qih.2_Missense_Mutation_p.E892K|ANK3_uc001jkz.4_Missense_Mutation_p.E885K|ANK3_uc001jlb.1_Missense_Mutation_p.E399K|ANK3_uc001jlc.1_Missense_Mutation_p.E531K	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	891					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						TCACCCAATTCCTTAAGGTCC	0.483000														31			22		0	0	0.00188189	0	0
ANO2	57101	broad.mit.edu	37	12	5848555	5848555	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:5848555G>A	uc001qnm.2	-	12	1422	c.1350C>T	c.(1348-1350)ttC>ttT	p.F450F		NM_020373	NP_065106	Q9NQ90	ANO2_HUMAN	Homo sapiens anoctamin 2 (ANO2), mRNA.	455						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						AGTTTTCCAGGAACATGGTAG	0.438000														10			7		0	0	0.00198382	0	0
COBLL1	22837	broad.mit.edu	37	2	165551054	165551054	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:165551054G>A	uc002ucp.3	-	11	3184	c.2962C>T	c.(2962-2964)Ccc>Tcc	p.P988S	COBLL1_uc002ucq.3_Missense_Mutation_p.P950S|COBLL1_uc010zcw.2_Missense_Mutation_p.P1055S|COBLL1_uc010zcx.2_Missense_Mutation_p.P996S|COBLL1_uc002ucn.3_Missense_Mutation_p.P416S|COBLL1_uc002uco.3_Missense_Mutation_p.P719S	NM_014900	NP_055715	Q53SF7	COBL1_HUMAN	Homo sapiens COBL-like 1 (COBLL1), mRNA.	1026										central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						GGAGCTATGGGAGGAGGGGAG	0.463000														37			12		0	0	0.00185496	0	0
SERAC1	84947	broad.mit.edu	37	6	158535902	158535902	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:158535902G>A	uc003qrc.2	-	14	1745	c.1603C>T	c.(1603-1605)Cat>Tat	p.H535Y	SERAC1_uc003qrb.2_Missense_Mutation_p.H263Y	NM_032861	NP_116250	Q96JX3	SRAC1_HUMAN	Homo sapiens serine active site containing 1 (SERAC1), mRNA.	535					GPI anchor metabolic process|intracellular protein transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	binding|hydrolase activity, acting on ester bonds			endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	15		Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178)		OV - Ovarian serous cystadenocarcinoma(65;1.37e-18)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)		CGTGATCCATGATGAGGGACA	0.383000														174			74		0	0	0.00361006	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110376775	110376775	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr8:110376775G>A	uc003yne.3	+	2	178	c.74_splice	c.e2-1	p.D25_splice		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	25					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)			ATATTTTTCAGATGGCTCTCA	0.348000										HNSCC(38;0.096)				18			9		0	0	0.000442599	0	0
PLA2R1	22925	broad.mit.edu	37	2	160798468	160798468	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:160798468G>A	uc002ube.2	-	29	4425	c.4213C>T	c.(4213-4215)Ctg>Ttg	p.L1405L	PLA2R1_uc010zcp.2_Silent_p.L1403L	NM_007366	NP_031392	Q13018	PLA2R_HUMAN	Homo sapiens phospholipase A2 receptor 1, 180kDa (PLA2R1), transcript variant 1, mRNA.	1405					endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						ATCAGTGTCAGTACAACCGCA	0.403000														72			31		0	0	0.00128727	0	0
MRPL4	51073	broad.mit.edu	37	19	10369321	10369321	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:10369321C>T	uc002mnm.3	+	8	853	c.699C>T	c.(697-699)gcC>gcT	p.A233A	MRPL4_uc002mnn.3_Silent_p.A233A|MRPL4_uc002mno.3_Silent_p.A233A	NM_146387	NP_666499	Q9BYD3	RM04_HUMAN	Homo sapiens mitochondrial ribosomal protein L4 (MRPL4), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	233					translation	mitochondrion|ribosome	structural constituent of ribosome			breast(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	11		Renal(1328;0.0112)	OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;1.99e-06)|all cancers(31;4.81e-06)	Lung(535;0.00705)		TCGTGGAGGCCACCTCTAGGC	0.592000														39			20		0	0	0.000958276	0	0
TRHR	7201	broad.mit.edu	37	8	110100443	110100443	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr8:110100443G>A	uc003ymz.4	+	0	791	c.702G>A	c.(700-702)tgG>tgA	p.W234*		NM_003301	NP_003292	P34981	TRFR_HUMAN	Homo sapiens thyrotropin-releasing hormone receptor (TRHR), mRNA.	234						integral to plasma membrane	thyrotropin-releasing hormone receptor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			CTAAGACATGGAAAAATGATT	0.378000														30			11		0	0	0.000978159	0	0
ZNF208	7757	broad.mit.edu	37	19	22154204	22154204	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:22154204G>A	uc021urr.1	-	3	3781	c.3632C>T	c.(3631-3633)aCc>aTc	p.T1211I	ZNF208_uc002nqo.1_Intron	NM_007153	NP_009084			Homo sapiens zinc finger protein 208 (ZNF208), mRNA.											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				ATATCTAAGGGTTGAGGGCCA	0.373000														47			16		0	0	0.00316338	0	0
NOS1	4842	broad.mit.edu	37	12	117665347	117665347	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:117665347G>A	uc001twn.2	-	23	4318	c.3607C>T	c.(3607-3609)Ctg>Ttg	p.L1203L	NOS1_uc021ren.1_Silent_p.L833L|NOS1_uc021reo.1_Silent_p.L833L|NOS1_uc001twm.2_Silent_p.L1169L	NM_001204218	NP_001191147	P29475	NOS1_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA.	1169	FAD-binding FR-type.				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	FMN binding|NADP binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	p.R1203H(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	AGCTGGGTCAGGAGCAGGGTG	0.582000														60			28		0	0	0.00111076	0	0
PSG4	5672	broad.mit.edu	37	19	43702206	43702206	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:43702206C>T	uc002ovy.3	-	2	754	c.652G>A	c.(652-654)Gaa>Aaa	p.E218K	PSG4_uc010xwk.1_Missense_Mutation_p.E57K|PSG4_uc002ovz.3_Missense_Mutation_p.E218K|PSG4_uc002owb.3_Intron	NM_002780	NP_002771	Q00888	PSG4_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 4 (PSG4), transcript variant 1, mRNA.	218	Ig-like C2-type 1.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				TTCCGTATTTCACATTCATAG	0.512000														40			46		0	0	0.00361006	0	0
PLA2G12A	81579	broad.mit.edu	37	4	110650855	110650855	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr4:110650855G>A	uc003hzp.3	-	0	388	c.111C>T	c.(109-111)acC>acT	p.T37T	PLA2G12A_uc010img.3_Silent_p.T37T	NM_030821	NP_110448	Q9BZM1	PG12A_HUMAN	Homo sapiens phospholipase A2, group XIIA (PLA2G12A), mRNA.	37					lipid catabolic process|phospholipid metabolic process	extracellular region	calcium ion binding|calcium-dependent phospholipase A2 activity			kidney(1)|lung(1)|ovary(1)|skin(1)	4				OV - Ovarian serous cystadenocarcinoma(123;0.000268)		CGTTCCGGATGGTCTTCAGGG	0.627000														13			5		0	0	0.00116845	0	0
MYOC	4653	broad.mit.edu	37	1	171621335	171621335	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:171621335C>T	uc001ghu.3	-	0	439	c.417G>A	c.(415-417)gaG>gaA	p.E139E	MYOC_uc010pmk.2_Silent_p.E81E	NM_000261	NP_000252	Q99972	MYOC_HUMAN	Homo sapiens myocilin, trabecular meshwork inducible glucocorticoid response (MYOC), mRNA.	139					anatomical structure morphogenesis	cilium|extracellular space|rough endoplasmic reticulum	structural molecule activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(1)|urinary_tract(2)	28	all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					TGTAGGCAGTCTCCAACTCTC	0.592000														66			29		0	0	0.000878237	0	0
FAM13A	10144	broad.mit.edu	37	4	89671049	89671049	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr4:89671049G>A	uc003hse.1	-	15	2160	c.1952C>T	c.(1951-1953)tCc>tTc	p.S651F	FAM13A_uc003hsa.1_Missense_Mutation_p.S122F|FAM13A_uc003hsb.1_Missense_Mutation_p.S325F|FAM13A_uc003hsd.1_Missense_Mutation_p.S325F|FAM13A_uc003hsc.1_Missense_Mutation_p.S311F|FAM13A_uc011cdq.1_Missense_Mutation_p.S297F|FAM13A_uc003hsf.1_Missense_Mutation_p.S237F|FAM13A_uc003hsg.1_Missense_Mutation_p.S122F|FAM13A_uc010ikr.1_Missense_Mutation_p.S147F	NM_014883	NP_055698	O94988	FA13A_HUMAN	Homo sapiens family with sequence similarity 13, member A (FAM13A), transcript variant 1, mRNA.	651					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	55						CCCCAGAGAGGAGCTTCGCCG	0.547000														32			13		0	0	0.00185496	0	0
SORCS3	22986	broad.mit.edu	37	10	106918660	106918660	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr10:106918660C>T	uc001kyi.1	+	10	1867	c.1640C>T	c.(1639-1641)tCc>tTc	p.S547F		NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 3 (SORCS3), mRNA.	547						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		CCCTTCTGTTCCTTACATCTG	0.468000														27			14		0	0	0.00121646	0	0
PRUNE2	158471	broad.mit.edu	37	9	79321894	79321894	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr9:79321894G>A	uc010mpk.3	-	7	5420	c.5296C>T	c.(5296-5298)Ccc>Tcc	p.P1766S	PRUNE2_uc004akj.4_5'Flank|PRUNE2_uc022big.1_5'Flank|PRUNE2_uc010mpl.1_5'Flank|PRUNE2_uc022bih.1_Missense_Mutation_p.P1588S	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	Homo sapiens prune homolog 2 (Drosophila) (PRUNE2), mRNA.	1766					G1 phase|apoptosis|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						AAAGTCCAGGGATCAGGGCTG	0.438000														46			16		0	0	0.000566183	0	0
TMPRSS11B	132724	broad.mit.edu	37	4	69101869	69101869	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr4:69101869C>T	uc003hdw.4	-	3	376	c.240_splice	c.e3+1	p.K80_splice		NM_182502	NP_872308	Q86T26	TM11B_HUMAN	Homo sapiens transmembrane protease, serine 11B (TMPRSS11B), mRNA.	80	SEA.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)	27						TCTGATTTACCTTAGTCTCAA	0.284000														22			11		0	0	0.000673444	0	0
MTMR4	9110	broad.mit.edu	37	17	56581792	56581792	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr17:56581792G>A	uc002iwj.2	-	12	1467	c.1357C>T	c.(1357-1359)Cgc>Tgc	p.R453C		NM_004687	NP_004678	Q9NYA4	MTMR4_HUMAN	Homo sapiens myotubularin related protein 4 (MTMR4), mRNA.	453	Myotubularin phosphatase.					cytoplasm|membrane	metal ion binding|protein tyrosine phosphatase activity			breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TGGCCACAGCGATCTCCAAAC	0.483000														85			24		0	0	0.000720815	0	0
AKAP6	9472	broad.mit.edu	37	14	33293360	33293360	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr14:33293360C>T	uc001wrq.3	+	12	6511	c.6341C>T	c.(6340-6342)tCt>tTt	p.S2114F		NM_004274	NP_004265	Q13023	AKAP6_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 6 (AKAP6), mRNA.	2114					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		TCGTACTTATCTCTCTCATCT	0.463000														30			29		0	0	0.001512	0	0
RGNEF	64283	broad.mit.edu	37	5	73190268	73190268	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:73190268C>T	uc010izf.3	+	28	3885	c.3709C>T	c.(3709-3711)Ctg>Ttg	p.L1237L	RGNEF_uc011csq.2_Silent_p.L1237L|RGNEF_uc021yam.1_Silent_p.L1237L|RGNEF_uc011csr.2_Silent_p.L924L|RGNEF_uc003kcz.4_Silent_p.L201L|RGNEF_uc003kda.4_Silent_p.L201L	NM_001080479	NP_001073948	Q8N1W1	RGNEF_HUMAN	Homo sapiens 190 kDa guanine nucleotide exchange factor (RGNEF), transcript variant 1, mRNA.	1237					cell differentiation|intracellular signal transduction|regulation of Rho protein signal transduction	cytoplasm|plasma membrane	RNA binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding						Lung NSC(167;0.0378)|all_lung(232;0.04)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.25e-51)		GGAGGAGAAGCTGCATATCTA	0.438000														21			4		0	0	0.00024832	0	0
GJA10	84694	broad.mit.edu	37	6	90604299	90604299	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:90604299C>T	uc011eaa.2	+	0	112	c.112C>T	c.(112-114)Cgt>Tgt	p.R38C		NM_032602	NP_115991	Q969M2	CXA10_HUMAN	Homo sapiens gap junction protein, alpha 10, 62kDa (GJA10), mRNA.	38					synaptic transmission	connexon complex|integral to membrane	gap junction channel activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|skin(3)|urinary_tract(1)	37		all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)		BRCA - Breast invasive adenocarcinoma(108;0.0915)		GCTGGTACTTCGTGTGGCTGC	0.498000														52			26		0	0	0.00395357	0	0
FGD2	221472	broad.mit.edu	37	6	36982774	36982774	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:36982774C>T	uc010jwp.1	+	7	1160	c.989C>T	c.(988-990)tCc>tTc	p.S330F	FGD2_uc003ong.2_Missense_Mutation_p.S52F|FGD2_uc011dtv.1_5'UTR|FGD2_uc003oni.1_Missense_Mutation_p.S136F	NM_173558	NP_775829	Q7Z6J4	FGD2_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 2 (FGD2), mRNA.	330	PH 1.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	Golgi apparatus|cytoskeleton|cytosol|early endosome membrane|lamellipodium|nucleus|ruffle membrane	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	25						CTCAAGATCTCCTTCCGCCGC	0.627000														38			6		0	0	0.00307968	0	0
OR51E1	143503	broad.mit.edu	37	11	4674639	4674639	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:4674639G>A	uc021qcq.1	+	0	883	c.883G>A	c.(883-885)Gga>Aga	p.G295R	OR51E1_uc001lzi.4_Missense_Mutation_p.G295R	NM_152430	NP_689643	Q8TCB6	O51E1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily E, member 1 (OR51E1), mRNA.	294					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|skin(1)|stomach(2)	30		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;7.37e-14)|GBM - Glioblastoma multiforme(2;2.85e-05)|BRCA - Breast invasive adenocarcinoma(625;0.00222)|LUSC - Lung squamous cell carcinoma(625;0.19)		AATTGTCTATGGAGTGAAGAC	0.512000														63			30		0	0	0.00283554	0	0
MYH13	8735	broad.mit.edu	37	17	10248823	10248823	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr17:10248823G>A	uc002gmk.1	-	13	1464	c.1374C>T	c.(1372-1374)ttC>ttT	p.F458F	MYH13_uc010vvf.1_Silent_p.F133F	NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	Homo sapiens myosin, heavy chain 13, skeletal muscle (MYH13), mRNA.	458	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						AGACCCCGATGAAGTACTGCC	0.512000														45			46		0	0	0.00361006	0	0
OR1L6	392390	broad.mit.edu	37	9	125512453	125512453	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr9:125512453G>A	uc022bna.1	+	0	327	c.327G>A	c.(325-327)ggG>ggA	p.G109G		NM_001004453	NP_001004453	Q8NGR2	OR1L6_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily L, member 6 (OR1L6), mRNA.	145					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	12						TGGCATTTGGGAACACTGACA	0.502000														74			54		0	0	0.00361006	0	0
AIP	9049	broad.mit.edu	37	11	67256782	67256782	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:67256782C>T	uc001olv.3	+	2	449	c.324C>T	c.(322-324)atC>atT	p.I108I		NM_003977	NP_003968	O00170	AIP_HUMAN	Homo sapiens aryl hydrocarbon receptor interacting protein (AIP), mRNA.	108	PPIase FKBP-type.				protein maturation by protein folding|protein targeting to mitochondrion	nucleus	signal transducer activity|transcription coactivator activity|transcription factor binding|unfolded protein binding			central_nervous_system(1)|large_intestine(1)|lung(3)|skin(2)	7						TCCGCAACATCGCGGTGGGCA	0.687000									Familial Isolated Pituitary Adenoma					12			6		0	0	0.00198382	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140215029	140215029	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:140215029C>T	uc003lhq.2	+	0	1061	c.1061C>T	c.(1060-1062)tCc>tTc	p.S354F	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc011dac.2_Missense_Mutation_p.S354F	NM_018910	NP_061733	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 7 (PCDHA7), transcript variant 1, mRNA.	369	Cadherin 3.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACTCTCACTTCCCTGTCTCTC	0.502000														70			41		0	0	0.00285205	0	0
TAS2R38	5726	broad.mit.edu	37	7	141673171	141673171	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:141673171G>A	uc003vwx.1	-	0	403	c.319C>T	c.(319-321)Ctc>Ttc	p.L107F		NM_176817	NP_789787	P59533	T2R38_HUMAN	Homo sapiens taste receptor, type 2, member 38 (TAS2R38), mRNA.	107					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1)	21	Melanoma(164;0.0171)					GCAAGCCAGAGGTTGGCTTGG	0.517000														71			30		0	0	0.00327116	0	0
REV3L	5980	broad.mit.edu	37	6	111696857	111696857	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:111696857C>A	uc003puy.4	-	12	3042	c.2701G>T	c.(2701-2703)Gat>Tat	p.D901Y	REV3L_uc003pux.4_Missense_Mutation_p.D823Y|REV3L_uc003puz.4_Missense_Mutation_p.D823Y	NM_002912	NP_002903	O60673	DPOLZ_HUMAN	Homo sapiens REV3-like, catalytic subunit of DNA polymerase zeta (yeast) (REV3L), mRNA.	901					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)		AACGTTCCATCTCCAAAGTGA	0.383000								DNA polymerases (catalytic subunits)						78			39		1.32136e-16	4.17222e-16	0.00195071	1	0
ZNF225	7768	broad.mit.edu	37	19	44635117	44635117	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:44635117C>T	uc002oyj.1	+	4	593	c.350C>T	c.(349-351)tCc>tTc	p.S117F	ZNF225_uc010ejf.1_Missense_Mutation_p.S117F	NM_013362	NP_037494	Q9UK10	ZN225_HUMAN	Homo sapiens zinc finger protein 225 (ZNF225), mRNA.	117					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	16		Prostate(69;0.0352)|all_neural(266;0.202)				TTTCAAGACTCCATGGTAAAC	0.423000														155			58		0	0	0.00361006	0	0
NRP2	8828	broad.mit.edu	37	2	206580965	206580965	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:206580965C>T	uc002vaw.3	+	2	1091	c.300C>T	c.(298-300)ctC>ctT	p.L100L	NRP2_uc002vat.3_Silent_p.L100L|NRP2_uc002vau.3_Silent_p.L100L|NRP2_uc002vav.3_Silent_p.L100L|NRP2_uc002vax.3_Silent_p.L100L|NRP2_uc002vay.3_Silent_p.L100L|NRP2_uc010fud.3_Silent_p.L100L	NM_201266	NP_957718	O60462	NRP2_HUMAN	Homo sapiens neuropilin 2 (NRP2), transcript variant 1, mRNA.	100	CUB 1.				angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						CCGCAGACCTCCTGGGCAAAC	0.577000														58			28		0	0	0.00127121	0	0
SLC25A17	10478	broad.mit.edu	37	22	41175070	41175070	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr22:41175070G>A	uc003azc.3	-	4	534	c.394C>T	c.(394-396)Caa>Taa	p.Q132*	SLC25A17_uc010gyg.3_Non-coding_Transcript|SLC25A17_uc011aou.2_Nonsense_Mutation_p.Q95*|SLC25A17_uc003azd.3_Non-coding_Transcript|SLC25A17_uc011aov.2_Nonsense_Mutation_p.Q59*	NM_006358	NP_006349	O43808	PM34_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial carrier; peroxisomal membrane protein, 34kDa), member 17 (SLC25A17), nuclear gene encoding mitochondrial protein, mRNA.	132					fatty acid alpha-oxidation	integral to plasma membrane|mitochondrial inner membrane|peroxisomal membrane	adenine nucleotide transmembrane transporter activity|protein binding			central_nervous_system(1)|large_intestine(4)|lung(2)|skin(1)	8						TTTGCTCCTTGAAGCTTCAGT	0.383000														12			18		0	0	0.000958276	0	0
AMBP	259	broad.mit.edu	37	9	116823280	116823280	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr9:116823280C>T	uc004bie.4	-	8	1215	c.952G>A	c.(952-954)Ggg>Agg	p.G318R	AMBP_uc011lxk.2_3'UTR	NM_001633	NP_001624	P02760	AMBP_HUMAN	Homo sapiens alpha-1-microglobulin/bikunin precursor (AMBP), mRNA.	318	BPTI/Kunitz inhibitor 2.				cell adhesion|female pregnancy|heme catabolic process|interspecies interaction between organisms|negative regulation of JNK cascade|negative regulation of immune response|protein-chromophore linkage	extracellular region|plasma membrane	IgA binding|calcium channel inhibitor activity|calcium oxalate binding|heme binding|protein homodimerization activity|serine-type endopeptidase inhibitor activity|transporter activity	p.G318W(2)|p.G318G(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	11					Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	TGGCAGCCCCCGTAGGGGAAG	0.622000														38			28		0	0	0.000720815	0	0
PIK3CB	5291	broad.mit.edu	37	3	138384011	138384011	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:138384011G>A	uc011bmq.2	-	17	2539	c.2539C>T	c.(2539-2541)Cgc>Tgc	p.R847C	PIK3CB_uc011bmn.2_Missense_Mutation_p.R359C|PIK3CB_uc011bmo.2_Missense_Mutation_p.R298C|PIK3CB_uc011bmp.2_Missense_Mutation_p.R434C	NM_006219	NP_006210	P42338	PK3CB_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, beta polypeptide (PIK3CB), transcript variant 1, mRNA.	847	PI3K/PI4K.				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	p.R847G(2)		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						AGGCCAGAGCGATCTCCTGTT	0.418000														234			116		0	0	0.00361006	0	0
VCL	7414	broad.mit.edu	37	10	75854043	75854043	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr10:75854043C>T	uc001jwd.3	+	10	1461	c.1367C>T	c.(1366-1368)tCt>tTt	p.S456F	VCL_uc009xrr.3_Missense_Mutation_p.S205F|VCL_uc010qky.1_Missense_Mutation_p.S363F|VCL_uc001jwe.3_Missense_Mutation_p.S456F|VCL_uc010qkz.2_Intron	NM_014000	NP_054706	P18206	VINC_HUMAN	Homo sapiens vinculin (VCL), transcript variant 1, mRNA.	456	3 X 112 AA tandem repeats.|N-terminal globular head.				adherens junction assembly|apical junction assembly|cell-matrix adhesion|cellular component movement|epithelial cell-cell adhesion|lamellipodium assembly|morphogenesis of an epithelium|muscle contraction|negative regulation of cell migration|platelet activation|platelet degranulation|protein localization at cell surface	costamere|cytosol|extracellular region|focal adhesion	actin binding|alpha-catenin binding|beta-catenin binding|beta-dystroglycan binding|cadherin binding|structural molecule activity		VCL/ALK(4)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Prostate(51;0.0112)					AAAGGAGATTCTCCAGAGGCT	0.512000														17			18		0	0	0.00278032	0	0
WRB	7485	broad.mit.edu	37	21	40765190	40765190	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr21:40765190T>A	uc002yxs.3	+	3	533	c.435T>A	c.(433-435)ttT>ttA	p.F145L	WRB_uc002yxt.4_Missense_Mutation_p.F111L|WRB_uc010goj.3_Non-coding_Transcript	NM_004627	NP_001139690	O00258	WRB_HUMAN	Homo sapiens tryptophan rich basic protein (WRB), transcript variant 1, mRNA.	145						integral to membrane|nucleolus				endometrium(3)	3		Prostate(19;1.2e-06)				TGGTAGCCTTTCCTACTAGAG	0.463000														22			10		0	0	0.000673444	0	0
IFNW1	3467	broad.mit.edu	37	9	21141054	21141054	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr9:21141054C>T	uc003zol.1	-	0	1091	c.516G>A	c.(514-516)atG>atA	p.M172I		NM_002177	NP_002168	P05000	IFNW1_HUMAN	Homo sapiens interferon, omega 1 (IFNW1), mRNA.	172					cell cycle arrest|defense response|response to virus	extracellular space	cytokine activity|cytokine receptor binding			endometrium(1)|kidney(1)|lung(2)|ovary(1)	5				GBM - Glioblastoma multiforme(5;2.35e-185)|Lung(24;2.24e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		ACAAGGATTTCATGATTTCCA	0.413000														33			21		0	0	0.00395357	0	0
DLGAP1	9229	broad.mit.edu	37	18	3879386	3879386	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr18:3879386G>A	uc002kmf.3	-	3	1210	c.683C>T	c.(682-684)cCc>cTc	p.P228L	DLGAP1_uc010wyz.2_Missense_Mutation_p.P228L|DLGAP1_uc002kmk.2_Missense_Mutation_p.P228L|LOC201477_uc002kml.1_Intron	NM_004746	NP_004737	O14490	DLGP1_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 1 (DLGAP1), transcript variant 1, mRNA.	228					synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				CGAGCGGTCGGGGCACCTGCC	0.652000														43			29		0	0	0.001512	0	0
PROL1	58503	broad.mit.edu	37	4	71275427	71275427	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr4:71275427C>T	uc003hfi.3	+	2	556	c.382C>T	c.(382-384)Cct>Tct	p.P128S		NM_021225	NP_067048	Q99935	PROL1_HUMAN	Homo sapiens proline rich, lacrimal 1 (PROL1), mRNA.	128	Pro-rich.				regulation of sensory perception of pain	extracellular region	endopeptidase inhibitor activity	p.P128S(2)		endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	15		all_hematologic(202;0.196)				TCCTCCTATTCCTTTTTTTCT	0.433000														93			36		0	0	0.00375469	0	0
KANK4	163782	broad.mit.edu	37	1	62733963	62733963	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:62733963C>T	uc001dah.4	-	4	2604	c.2227G>A	c.(2227-2229)Gag>Aag	p.E743K	KANK4_uc001dai.4_Missense_Mutation_p.E115K|KANK4_uc001dag.4_Missense_Mutation_p.E99K	NM_181712	NP_859063	Q5T7N3	KANK4_HUMAN	Homo sapiens KN motif and ankyrin repeat domains 4 (KANK4), mRNA.	743										NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						GCTCACCTCTCGGCCTTGGAG	0.562000														18			21		0	0	0.00278032	0	0
KCNS2	3788	broad.mit.edu	37	8	99441541	99441541	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr8:99441541G>A	uc003yin.3	+	1	1684	c.1334G>A	c.(1333-1335)aGg>aAg	p.R445K	KCNS2_uc022azb.1_Missense_Mutation_p.R445K	NM_020697	NP_065748	Q9ULS6	KCNS2_HUMAN	Homo sapiens potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2 (KCNS2), mRNA.	445						voltage-gated potassium channel complex	voltage-gated potassium channel activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	31	Breast(36;2.4e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.0448)			GTCAATTTAAGGGACTATTAT	0.463000														61			34		0	0	0.00428921	0	0
PPIL2	23759	broad.mit.edu	37	22	22043086	22043086	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr22:22043086C>T	uc010gtj.1	+	14	1203	c.1087C>T	c.(1087-1089)Cgc>Tgc	p.R363C	PPIL2_uc002zvh.4_Missense_Mutation_p.R363C|PPIL2_uc002zvi.4_Missense_Mutation_p.R363C|PPIL2_uc002zvg.4_Missense_Mutation_p.R363C|PPIL2_uc011aij.2_Missense_Mutation_p.R342C|PPIL2_uc002zvk.4_Missense_Mutation_p.R109C	NM_148175	NP_680480	Q13356	PPIL2_HUMAN	Homo sapiens peptidylprolyl isomerase (cyclophilin)-like 2 (PPIL2), transcript variant 2, mRNA.	363	PPIase cyclophilin-type.				blood coagulation|leukocyte migration|protein folding|protein polyubiquitination	Golgi lumen|nucleus|ubiquitin ligase complex	peptidyl-prolyl cis-trans isomerase activity|ubiquitin-ubiquitin ligase activity	p.G362C(1)		endometrium(4)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	17	Colorectal(54;0.105)					GCACACGGGCCGCGGCATCCT	0.627000														60			31		0	0	0.000953801	0	0
TNFRSF1A	7132	broad.mit.edu	37	12	6443283	6443283	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:6443283G>A	uc001qnu.3	-	1	470	c.167C>T	c.(166-168)tCg>tTg	p.S56L	TNFRSF1A_uc001qnt.3_5'UTR|TNFRSF1A_uc010sey.2_5'UTR|TNFRSF1A_uc010sez.2_Intron|TNFRSF1A_uc009zek.3_Missense_Mutation_p.S56L|TNFRSF1A_uc010sfa.2_Missense_Mutation_p.S56L	NM_001065	NP_001056	P19438	TNR1A_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 1A (TNFRSF1A), mRNA.	56					apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|inflammatory response|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of inflammatory response|positive regulation of transcription from RNA polymerase II promoter|prostaglandin metabolic process	extracellular region|integral to plasma membrane|membrane raft	tumor necrosis factor receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	19						ACAGCAAATCGAATTATTTTG	0.502000														61			30		0	0	0.00428921	0	0
CDON	50937	broad.mit.edu	37	11	125889518	125889518	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:125889518G>A	uc009zbw.3	-	3	620	c.492C>T	c.(490-492)tcC>tcT	p.S164S	CDON_uc001qdc.4_Silent_p.S164S|CDON_uc001qdd.4_Non-coding_Transcript|CDON_uc009zbx.3_Silent_p.S164S	NM_001243597	NP_001230526	Q4KMG0	CDON_HUMAN	Homo sapiens Cdon homolog (mouse) (CDON), transcript variant 1, mRNA.	164	Ig-like C2-type 2.				cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	61	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)		TCTCACCTGTGGAATGTTCCA	0.473000														76			57		0	0	0.00361006	0	0
THSD7B	80731	broad.mit.edu	37	2	138030160	138030160	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:138030160G>A	uc002tva.1	+	9	2231	c.2231G>A	c.(2230-2232)gGa>gAa	p.G744E	THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.3_Missense_Mutation_p.G634E	NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.									p.S744I(1)		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)		GCAGCCAATGGAGGCCAGGAA	0.388000														22			12		0	0	0.00136819	0	0
FRMPD2	143162	broad.mit.edu	37	10	49392706	49392706	+	Silent	SNP	C	T	T	rs115484322	byFrequency	TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr10:49392706C>T	uc001jgi.3	-	19	2818	c.2487G>A	c.(2485-2487)ctG>ctA	p.L829L	FRMPD2_uc001jgh.3_Silent_p.L797L|FRMPD2_uc001jgj.3_Silent_p.L798L	NM_001018071	NP_001018081	Q68DX3	FRPD2_HUMAN	Homo sapiens FERM and PDZ domain containing 2 (FRMPD2), transcript variant 3, mRNA.	829	PDZ 1.				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)		TGATGTGATTCAGGGCTAGTA	0.358000														16			14		0	0	0.00316338	0	0
HES3	390992	broad.mit.edu	37	1	6304301	6304301	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:6304301G>A	uc009vly.2	+	1	50	c.-15_splice	c.e1+1			NM_001024598	NP_001019769	Q5TGS1	HES3_HUMAN	Homo sapiens hairy and enhancer of split 3 (Drosophila) (HES3), mRNA.						transcription, DNA-dependent	nucleus	DNA binding			lung(2)|skin(1)	3	Ovarian(185;0.0634)	all_cancers(23;2.48e-32)|all_epithelial(116;1.14e-17)|all_lung(118;2.85e-06)|all_neural(13;3.68e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;3.77e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00475)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;1.2e-37)|GBM - Glioblastoma multiforme(13;3.2e-29)|OV - Ovarian serous cystadenocarcinoma(86;2.52e-19)|Colorectal(212;1.19e-07)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|BRCA - Breast invasive adenocarcinoma(365;0.00105)|STAD - Stomach adenocarcinoma(132;0.00308)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.241)		ACTTCCGAAAGGTCTGGGGTC	0.667000														2			3		0	0	6.4e-05	0	0
ZHX2	22882	broad.mit.edu	37	8	123966097	123966097	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr8:123966097G>A	uc022bag.1	+	0	2347	c.2347G>A	c.(2347-2349)Gac>Aac	p.D783N	ZHX2_uc003ypk.1_Missense_Mutation_p.D783N	NM_014943	NP_055758	Q9Y6X8	ZHX2_HUMAN	Homo sapiens zinc fingers and homeoboxes 2 (ZHX2), mRNA.	783						cytoplasm|nucleus|plasma membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			CCAGGGTAGCGACGAGAACGA	0.602000														15			7		0	0	0.00198382	0	0
MYL2	4633	broad.mit.edu	37	12	111348965	111348965	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:111348965G>A	uc001try.4	-	6	488	c.417C>T	c.(415-417)ttC>ttT	p.F139F	MYL2_uc001trx.4_Silent_p.F120F	NM_000432	NP_000423	P10916	MLRV_HUMAN	Homo sapiens myosin, light chain 2, regulatory, cardiac, slow (MYL2), mRNA.	139	EF-hand 3.				cardiac myofibril assembly|heart contraction|muscle filament sliding|negative regulation of cell growth|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	cytosol|myosin complex|sarcomere	actin monomer binding|calcium ion binding|myosin heavy chain binding|structural constituent of muscle			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)	12						GGAAGGCGGCGAACATCTGGT	0.617000														82			30		0	0	0.00111076	0	0
OR6B1	135946	broad.mit.edu	37	7	143701246	143701246	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:143701246C>T	uc003wdt.1	+	0	157	c.157C>T	c.(157-159)Cgg>Tgg	p.R53W		NM_001005281	NP_001005281	O95007	OR6B1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily B, member 1 (OR6B1), mRNA.	53					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|large_intestine(3)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	27	Melanoma(164;0.0783)					GCTGCAAAATCGGCCACTGCA	0.473000														38			16		0	0	0.00316338	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37505221	37505221	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr10:37505221G>A	uc021ppc.1	+	31	2913	c.2814G>A	c.(2812-2814)aaG>aaA	p.K938K	ANKRD30A_uc001iza.1_Silent_p.K938K	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	994						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						AAATGAAAAAGAAGTTTTGTG	0.338000														64			22		0	0	0.00278032	0	0
ZNF676	163223	broad.mit.edu	37	19	22363165	22363165	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:22363165C>T	uc002nqs.1	-	2	1672	c.1354G>A	c.(1354-1356)Gaa>Aaa	p.E452K		NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN	Homo sapiens zinc finger protein 676 (ZNF676), mRNA.	452					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				CCACATTCTTCACATTTGTAG	0.438000														83			30		0	0	0.00428921	0	0
DYSF	8291	broad.mit.edu	37	2	71840537	71840537	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:71840537C>T	uc010fen.3	+	39	4602	c.4461C>T	c.(4459-4461)atC>atT	p.I1487I	DYSF_uc010fei.3_Silent_p.I1486I|DYSF_uc010feh.3_Silent_p.I1455I|DYSF_uc002sig.4_Silent_p.I1455I|DYSF_uc010yqx.2_Non-coding_Transcript|DYSF_uc010feg.3_Silent_p.I1500I|DYSF_uc010fee.3_Silent_p.I1469I|DYSF_uc010fef.3_Silent_p.I1486I|DYSF_uc002sie.3_Silent_p.I1469I|DYSF_uc010feo.3_Silent_p.I1501I|DYSF_uc010fej.3_Silent_p.I1456I|DYSF_uc010fel.3_Silent_p.I1456I|DYSF_uc010fem.3_Silent_p.I1470I|DYSF_uc002sif.3_Silent_p.I1470I|DYSF_uc010fek.3_Silent_p.I1487I|DYSF_uc010yqy.2_Silent_p.I350I|DYSF_uc010yqz.2_Silent_p.I209I	NM_001130987	NP_001124459	O75923	DYSF_HUMAN	Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA.	1469						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						TCATCCCCATCCAGGTAGGAT	0.582000														17			9		0	0	0.000673444	0	0
ENTHD1	150350	broad.mit.edu	37	22	40140134	40140134	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr22:40140134G>A	uc003ayg.3	-	6	1625	c.1374C>T	c.(1372-1374)tcC>tcT	p.S458S		NM_152512	NP_689725	Q8IYW4	ENTD1_HUMAN	Homo sapiens ENTH domain containing 1 (ENTHD1), mRNA.	458										breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3)	32	Melanoma(58;0.0749)					CATCTTTAAAGGAGGTAGAAG	0.468000														28			9		0	0	0.000442599	0	0
NLRP5	126206	broad.mit.edu	37	19	56569775	56569775	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:56569775G>A	uc002qmj.3	+	14	3470	c.3470_splice	c.e14+1	p.G1157_splice	NLRP5_uc002qmi.3_Splice_Site_p.G1138_splice	NM_153447	NP_703148	P59047	NALP5_HUMAN	Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA.	1157						mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		ACAGATAATTGGGTAAGTCGC	0.463000														14			7		0	0	0.00198382	0	0
C10orf120	399814	broad.mit.edu	37	10	124459258	124459259	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr10:124459258_124459259CC>TT	uc001lgn.3	-	0	80_81	c.48_49GG>AA	c.(46-51)agggct>agAAct	p.A17T		NM_001010912	NP_001010912	Q5SQS8	CJ120_HUMAN	Homo sapiens chromosome 10 open reading frame 120 (C10orf120), mRNA.	17										endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|skin(2)|stomach(1)|urinary_tract(1)	21		all_neural(114;0.169)|Glioma(114;0.222)				GTGTCACTAGCCCTCTGTTTTT	0.431000														39			16		0	0	6.4e-05	0	0
CTNNAL1	8727	broad.mit.edu	37	9	111734999	111734999	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr9:111734999C>T	uc004bdo.1	-	8	1345	c.1303G>A	c.(1303-1305)Gaa>Aaa	p.E435K	CTNNAL1_uc010mts.1_Intron|CTNNAL1_uc004bdp.1_Missense_Mutation_p.E435K	NM_003798	NP_003789	Q9UBT7	CTNL1_HUMAN	Homo sapiens catenin (cadherin-associated protein), alpha-like 1 (CTNNAL1), mRNA.	435					Rho protein signal transduction|cell adhesion	actin cytoskeleton|cytosol|plasma membrane	cadherin binding|structural molecule activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(4)|urinary_tract(2)	25				STAD - Stomach adenocarcinoma(157;0.0768)		CAGGCATATTCAGCCAAAGCT	0.358000														68			66		0	0	0.00361006	0	0
RHBDL1	9028	broad.mit.edu	37	16	726698	726698	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr16:726698C>T	uc002cis.1	+	1	450	c.423C>T	c.(421-423)ttC>ttT	p.F141F	RHBDL1_uc002cir.1_Silent_p.F76F|RHBDL1_uc010uun.1_Silent_p.F76F	NM_003961	NP_003952	O75783	RHBL1_HUMAN	Homo sapiens rhomboid, veinlet-like 1 (Drosophila) (RHBDL1), mRNA.	141					proteolysis|signal transduction	integral to plasma membrane|membrane fraction	calcium ion binding|serine-type endopeptidase activity			endometrium(1)|kidney(1)|lung(4)|urinary_tract(3)	9		Hepatocellular(780;0.0218)				CCAGCAGTTTCAAGCGGGCCA	0.667000														32			10		0	0	0.000673444	0	0
DCHS2	54798	broad.mit.edu	37	4	155157450	155157450	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr4:155157450G>A	uc003inw.2	-	24	6989	c.6989C>T	c.(6988-6990)tCc>tTc	p.S2330F		NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	Homo sapiens dachsous 2 (Drosophila) (DCHS2), transcript variant 1, mRNA.	2330	Cadherin 21.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TATGGTAGAGGAAATAGGCAG	0.408000														43			11		0	0	0.00136819	0	0
KRT9	3857	broad.mit.edu	37	17	39724826	39724826	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr17:39724826C>T	uc002hxe.4	-	4	1170	c.1104G>A	c.(1102-1104)aaG>aaA	p.K368K	JUP_uc010wfs.2_Intron	NM_000226	NP_000217	P35527	K1C9_HUMAN	Homo sapiens keratin 9 (KRT9), mRNA.	368	Coil 2.|Rod.				intermediate filament organization|skin development		protein binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Breast(137;0.000307)				GGGTCACCTCCTTGGCACTGG	0.547000														183			164		0	0	0.00361006	0	0
OR5V1	81696	broad.mit.edu	37	6	29323035	29323035	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:29323035G>A	uc011dlo.2	-	0	1020	c.938C>T	c.(937-939)tCc>tTc	p.S313F		NM_030876	NP_110503	Q9UGF6	OR5V1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily V, member 1 (OR5V1), mRNA.	313					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S313F(4)		breast(1)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						ATCCAAAGAGGAAATTGGTGG	0.358000														58			25		0	0	0.00395357	0	0
TTN	7273	broad.mit.edu	37	2	179659879	179659879	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:179659879G>A	uc021vsy.1	-	6	1240	c.1015C>T	c.(1015-1017)Cct>Tct	p.P339S	TTN_uc021vsz.1_Missense_Mutation_p.P339S|TTN_uc021vta.1_Missense_Mutation_p.P339S|TTN_uc021vtb.1_Missense_Mutation_p.P339S|TTN_uc002unb.2_Missense_Mutation_p.P339S|TTN_uc010frg.1_Missense_Mutation_p.P13S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	339	ZIS1.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.G338C(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)			GGCACTTCAGGACCTGTGGCC	0.562000														41			24		0	0	0.00395357	0	0
KCNJ10	3766	broad.mit.edu	37	1	160012041	160012041	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:160012041C>T	uc001fuw.2	-	1	522	c.282G>A	c.(280-282)ggG>ggA	p.G94G		NM_002241	NP_002232	P78508	IRK10_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 10 (KCNJ10), mRNA.	94						integral to plasma membrane	ATP binding|ATP-activated inward rectifier potassium channel activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)	17	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CCAGCAGGTCCCCATGTGCCA	0.582000														37			24		0	0	0.000720815	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113519598	113519598	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:113519598C>T	uc010ljy.1	-	3	1580	c.1549G>A	c.(1549-1551)Gat>Aat	p.D517N		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 3A (PPP1R3A), mRNA.	517					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						TGTTCTTCATCATCCTTACCA	0.328000														45			15		0	0	0.00316338	0	0
NDRG2	57447	broad.mit.edu	37	14	21485762	21485762	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr14:21485762G>A	uc001vyy.3	-	16	1259	c.1109C>T	c.(1108-1110)tCc>tTc	p.S370F	NDRG2_uc010tll.2_Missense_Mutation_p.S366F|NDRG2_uc001vyt.3_Missense_Mutation_p.S283F|NDRG2_uc001vyu.3_Missense_Mutation_p.S327F|NDRG2_uc001vyv.3_Missense_Mutation_p.S356F|NDRG2_uc001vyw.3_Missense_Mutation_p.S356F|NDRG2_uc001vzb.3_Missense_Mutation_p.S310F|NDRG2_uc001vyx.3_Missense_Mutation_p.S370F|NDRG2_uc001vza.3_Missense_Mutation_p.S356F|NDRG2_uc001vyz.3_Missense_Mutation_p.S356F|NDRG2_uc001vzc.3_Missense_Mutation_p.S340F|NDRG2_uc010aig.3_Missense_Mutation_p.S359F|NDRG2_uc001vze.3_Missense_Mutation_p.S370F|NDRG2_uc001vzd.3_Missense_Mutation_p.S370F|NDRG2_uc001vzg.3_Missense_Mutation_p.S356F|NDRG2_uc001vzf.3_Missense_Mutation_p.S356F	NM_201540	NP_963834	Q9UN36	NDRG2_HUMAN	Homo sapiens NDRG family member 2 (NDRG2), transcript variant 7, mRNA.	370					cell differentiation|nervous system development	Golgi apparatus|centrosome|cytosol|nucleus|perinuclear region of cytoplasm				breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	23	all_cancers(95;0.00185)		OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08)	GBM - Glioblastoma multiforme(265;0.0191)		CATTCAACAGGAGACCTCCAT	0.632000														7			3		0	0	0.00024832	0	0
TGFBR3	7049	broad.mit.edu	37	1	92262983	92262983	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:92262983G>A	uc001doh.3	-	2	622	c.107C>T	c.(106-108)tCc>tTc	p.S36F	TGFBR3_uc009wde.3_5'UTR|TGFBR3_uc010osy.2_5'UTR|TGFBR3_uc001doi.3_Missense_Mutation_p.S36F|TGFBR3_uc001doj.3_Missense_Mutation_p.S36F	NM_003243	NP_003234	Q03167	TGBR3_HUMAN	Homo sapiens transforming growth factor, beta receptor III (TGFBR3), transcript variant 1, mRNA.	36					BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis	external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle	PDZ domain binding|SMAD binding|coreceptor activity|heparin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		GACAGGATGGGAGGCACTGAC	0.547000														78			30		0	0	0.00283554	0	0
TNR	7143	broad.mit.edu	37	1	175372391	175372391	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:175372391G>A	uc001gkp.1	-	1	942	c.861C>T	c.(859-861)taC>taT	p.Y287Y	TNR_uc009wwu.1_Silent_p.Y287Y|TNR_uc010pmz.1_Silent_p.Y287Y	NM_003285	NP_003276	Q92752	TENR_HUMAN	Homo sapiens tenascin R (restrictin, janusin) (TNR), mRNA.	287	Cys-rich.|EGF-like 4.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		p.G286C(1)		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)					CCTCACCAACGTAGCCCTCCT	0.627000														24			16		0	0	0.00074312	0	0
OR56A3	390083	broad.mit.edu	37	11	5969065	5969065	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:5969065C>T	uc010qzt.2	+	0	489	c.489C>T	c.(487-489)atC>atT	p.I163I		NM_001003443	NP_001003443	Q8NH54	O56A3_HUMAN	Homo sapiens olfactory receptor, family 56, subfamily A, member 3 (OR56A3), mRNA.	163					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1)	41		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTCTGCCCATCCCCATCCTTT	0.443000														56			24		0	0	0.00278032	0	0
SLC9C1	285335	broad.mit.edu	37	3	111927151	111927151	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:111927151C>T	uc003dyu.3	-	15	2082	c.1860G>A	c.(1858-1860)gtG>gtA	p.V620V	SLC9C1_uc011bhu.2_Intron|SLC9C1_uc010hqc.3_Silent_p.V572V	NM_183061	NP_898884	Q4G0N8	S9A10_HUMAN	Homo sapiens solute carrier family 9, member 10 (SLC9A10), mRNA.	620	Ion transport-like.				cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity										TCATTAATATCACAAGGTATC	0.294000														143			45		0	0	0.00361006	0	0
PTPRB	5787	broad.mit.edu	37	12	70953309	70953309	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:70953309C>T	uc001swb.4	-	15	3904	c.3874G>A	c.(3874-3876)Gac>Aac	p.D1292N	PTPRB_uc010sto.2_Missense_Mutation_p.D1202N|PTPRB_uc010stp.2_Missense_Mutation_p.D1202N|PTPRB_uc001swc.4_Missense_Mutation_p.D1510N|PTPRB_uc001swa.4_Missense_Mutation_p.D1422N|PTPRB_uc001swd.4_Missense_Mutation_p.D1509N|PTPRB_uc009zrr.2_Missense_Mutation_p.D1389N	NM_002837	NP_002828	P23467	PTPRB_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA.	1292	Fibronectin type-III 15.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			AGCTCAAAGTCGTTGTAGTCT	0.498000														85			44		0	0	0.00361006	0	0
OR8K5	219453	broad.mit.edu	37	11	55927378	55927378	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:55927378C>T	uc010rja.2	-	0	416	c.416G>A	c.(415-417)cGa>cAa	p.R139Q		NM_001004058	NP_001004058	Q8NH50	OR8K5_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily K, member 5 (OR8K5), mRNA.	139					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)				ATGACACAGTCGCTGAGACAT	0.403000														39			39		0	0	0.00170553	0	0
C12orf49	79794	broad.mit.edu	37	12	117155666	117155666	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:117155666G>A	uc001tvz.1	-	4	705	c.567C>T	c.(565-567)ccC>ccT	p.P189P	C12orf49_uc009zwm.1_Silent_p.P159P	NM_024738	NP_079014	Q9H741	CL049_HUMAN	Homo sapiens chromosome 12 open reading frame 49 (C12orf49), mRNA.	189						extracellular region				endometrium(1)|lung(1)|ovary(1)|skin(1)	4	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0281)		ACTTTGCTATGGGGTCCCGGT	0.587000														16			9		0	0	0.00185496	0	0
CLU	1191	broad.mit.edu	37	8	27462697	27462697	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr8:27462697G>A	uc003xfy.2	-	4	753	c.606C>T	c.(604-606)ttC>ttT	p.F202F	CLU_uc003xfw.2_Silent_p.F191F|CLU_uc003xfx.2_Silent_p.F191F|CLU_uc003xfz.2_Silent_p.F191F	NM_001831	NP_001822	P10909	CLUS_HUMAN	Homo sapiens clusterin (CLU), transcript variant 1, mRNA.	191					chaperone-mediated protein folding|complement activation, classical pathway|innate immune response|lipid metabolic process|negative regulation of apoptosis|negative regulation of protein homooligomerization|platelet activation|platelet degranulation|positive regulation of NF-kappaB transcription factor activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|response to misfolded protein|response to virus|reverse cholesterol transport	chromaffin granule|cytosol|endoplasmic reticulum|microsome|mitochondrial membrane|nucleus|perinuclear region of cytoplasm|platelet alpha granule lumen|spherical high-density lipoprotein particle	misfolded protein binding|ubiquitin protein ligase binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)	21		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|Colorectal(74;0.132)		ACCTGTCCTGGAAGAGCTCGT	0.612000														23			6		0	0	0.00307968	0	0
PTPRU	10076	broad.mit.edu	37	1	29642641	29642641	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:29642641C>T	uc001bru.3	+	24	3650	c.3521C>T	c.(3520-3522)tCc>tTc	p.S1174F	PTPRU_uc009vtq.3_Missense_Mutation_p.S1170F|PTPRU_uc009vtr.3_Missense_Mutation_p.S1161F|PTPRU_uc001brw.3_Missense_Mutation_p.S1164F	NM_005704	NP_005695	Q92729	PTPRU_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, U (PTPRU), transcript variant 3, mRNA.	1174					canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		AGTAATTCCTCCCAGCTGCGG	0.547000														33			7		0	0	0.00307968	0	0
TSSC1	7260	broad.mit.edu	37	2	3341912	3341912	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:3341912G>A	uc002qxj.2	-	2	328	c.135C>T	c.(133-135)atC>atT	p.I45I		NM_003310	NP_003301	Q53HC9	TSSC1_HUMAN	Homo sapiens tumor suppressing subtransferable candidate 1 (TSSC1), mRNA.	45							protein binding			breast(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	18	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)	all_cancers(51;0.212)		OV - Ovarian serous cystadenocarcinoma(76;0.00877)|Epithelial(75;0.0283)|all cancers(51;0.0464)		CAAAATCTATGATATGGATCT	0.388000														20			16		0	0	0.00400662	0	0
GLRA1	2741	broad.mit.edu	37	5	151202326	151202326	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:151202326G>T	uc003lut.3	-	8	1569	c.1282C>A	c.(1282-1284)Cgc>Agc	p.R428S	GLRA1_uc003lur.3_Missense_Mutation_p.R420S|GLRA1_uc003lus.3_Missense_Mutation_p.R337S	NM_001146040	NP_001139512	P23415	GLRA1_HUMAN	Homo sapiens glycine receptor, alpha 1 (GLRA1), transcript variant 1, mRNA.	428			R -> H (in STHE).		muscle contraction|negative regulation of transmission of nerve impulse|neuropeptide signaling pathway|positive regulation of acrosome reaction|regulation of membrane potential|startle response	cell junction|chloride channel complex|integral to plasma membrane|intracellular membrane-bounded organelle|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|protein binding|receptor activity|taurine binding|transmitter-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	23		all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	AAGCCAATGCGGGATATTTTG	0.502000														80			6		0.00198382	0.00617672	0.00198382	1	0
FECH	2235	broad.mit.edu	37	18	55221578	55221578	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr18:55221578G>A	uc002lgq.4	-	8	1108	c.991C>T	c.(991-993)Ctc>Ttc	p.L331F	FECH_uc002lgp.4_Missense_Mutation_p.L337F|FECH_uc002lgr.4_Missense_Mutation_p.L189F	NM_000140	NP_000131	P22830	HEMH_HUMAN	Homo sapiens ferrochelatase (FECH), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	331					generation of precursor metabolites and energy|heme biosynthetic process|protoporphyrinogen IX metabolic process|response to light stimulus	mitochondrial inner membrane|mitochondrial matrix	2 iron, 2 sulfur cluster binding|ferrochelatase activity|ferrous iron binding|protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	15		Colorectal(73;0.227)				GGAACCAAGAGGATATTCTTC	0.463000														107			40		0	0	0.00128727	0	0
CNR1	1268	broad.mit.edu	37	6	88854839	88854839	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:88854839G>A	uc010kbz.3	-	1	285	c.155C>T	c.(154-156)tCc>tTc	p.S52F	CNR1_uc011dzr.2_Missense_Mutation_p.S52F|CNR1_uc011dzs.2_Missense_Mutation_p.S52F|CNR1_uc003pmq.4_Missense_Mutation_p.S52F|CNR1_uc011dzt.2_Missense_Mutation_p.S52F|CNR1_uc010kca.3_Intron|CNR1_uc021zco.1_Missense_Mutation_p.S52F	NM_016083	NP_057167	P21554	CNR1_HUMAN	Homo sapiens cannabinoid receptor 1 (brain) (CNR1), transcript variant 1, mRNA.	52					G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	cannabinoid receptor activity|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1)	37		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.15)	Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)	TCCCCTAAAGGAAGTTAAAGG	0.468000														33			11		0	0	0.000978159	0	0
TTC21A	199223	broad.mit.edu	37	3	39171798	39171798	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:39171798C>T	uc003cjc.2	+	16	2466	c.2289C>T	c.(2287-2289)tcC>tcT	p.S763S	TTC21A_uc011ayx.1_Silent_p.S715S|TTC21A_uc003cjd.2_Non-coding_Transcript|TTC21A_uc011ayy.2_5'Flank|TTC21A_uc003cjf.2_5'Flank	NM_145755	NP_665698	Q8NDW8	TT21A_HUMAN	Homo sapiens tetratricopeptide repeat domain 21A (TTC21A), transcript variant 2, mRNA.	763							binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		ATGACGCCTCCCTGGCCAGCA	0.597000														8			9		0	0	0.000978159	0	0
SLC43A3	29015	broad.mit.edu	37	11	57182185	57182185	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:57182185G>A	uc010rjr.2	-	10	1344	c.1002C>T	c.(1000-1002)gcC>gcT	p.A334A	SLC43A3_uc001nke.3_Silent_p.A220A|SLC43A3_uc001nkg.3_Silent_p.A321A|SLC43A3_uc001nkh.3_Silent_p.A321A|SLC43A3_uc009yme.3_Silent_p.A321A|SLC43A3_uc001nki.3_Silent_p.A321A|SLC43A3_uc009ymf.1_Silent_p.A321A	NM_199329	NP_955361	Q8NBI5	S43A3_HUMAN	Homo sapiens solute carrier family 43, member 3 (SLC43A3), mRNA.	321					transmembrane transport	integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	27						TGAAGGCAAAGGCATTTGTGT	0.522000														80			62		0	0	0.00361006	0	0
ALG5	29880	broad.mit.edu	37	13	37573378	37573378	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr13:37573378G>A	uc001uvy.3	-	0	127	c.60C>T	c.(58-60)ctC>ctT	p.L20L	ALG5_uc010teq.2_Silent_p.L20L|ALG5_uc010ter.2_Non-coding_Transcript|EXOSC8_uc001uvz.2_5'Flank|EXOSC8_uc001uwa.3_5'Flank	NM_013338	NP_037470	Q9Y673	ALG5_HUMAN	Homo sapiens asparagine-linked glycosylation 5, dolichyl-phosphate beta-glucosyltransferase homolog (S. cerevisiae) (ALG5), transcript variant 1, mRNA.	20					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate beta-glucosyltransferase activity|oligosaccharyl transferase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	11		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)		all cancers(112;5.79e-07)|Epithelial(112;1.81e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00785)|BRCA - Breast invasive adenocarcinoma(63;0.0127)|GBM - Glioblastoma multiforme(144;0.0472)		TCACCAGTACGAGGGCTGCGG	0.697000														18			12		0	0	0.00316338	0	0
CELF4	56853	broad.mit.edu	37	18	34853055	34853055	+	Silent	SNP	G	A	A	rs150488058	byFrequency	TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr18:34853055G>A	uc002lae.2	-	6	1269	c.873C>T	c.(871-873)ttC>ttT	p.F291F	CELF4_uc021uix.1_Silent_p.F289F|CELF4_uc021uiy.1_Silent_p.F290F|CELF4_uc002lag.2_Silent_p.F281F|CELF4_uc002laf.2_Silent_p.F286F|CELF4_uc002lai.2_Silent_p.F276F|CELF4_uc002lah.2_Silent_p.F16F|CELF4_uc002laj.1_Missense_Mutation_p.R127C	NM_020180	NP_064565	Q9BZC1	CELF4_HUMAN	Homo sapiens CUGBP, Elav-like family member 4 (CELF4), transcript variant 1, mRNA.	291	Ala-rich.|Sufficient for RNA-binding and MSE- dependent splicing activity.				embryo development|germ cell development|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	BRE binding|nucleotide binding|translation repressor activity, nucleic acid binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	44						GGGCGGCAGCGAAGGCAGCCA	0.632000														34			16		0	0	0.000566183	0	0
LILRA1	11024	broad.mit.edu	37	19	55087437	55087437	+	Silent	SNP	A	G	G			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:55087437A>G	uc010ern.3	+	6	1585	c.1116A>G	c.(1114-1116)caA>caG	p.Q372Q	LILRA1_uc002qgg.4_Silent_p.Q372Q|LILRA1_uc002qgf.3_Silent_p.Q372Q|LILRA1_uc010yfe.1_Silent_p.Q372Q|LILRA1_uc010yff.1_Silent_p.Q360Q|LILRA1_uc010ero.3_Silent_p.Q360Q|LILRA1_uc010yfg.1_Intron			O75019	LIRA1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2 (LILRA2), transcript variant 2, mRNA.	374	Ig-like C2-type 4.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		CAGAGCACCAAGCTCAGCAGA	0.597000														39			12		0	0	0.00185496	0	0
APOBR	55911	broad.mit.edu	37	16	28507365	28507365	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr16:28507365G>A	uc002dqb.2	+	1	1036	c.1003G>A	c.(1003-1005)Gag>Aag	p.E335K	NPIPL1_uc010vct.2_Intron|APOBR_uc010byg.2_5'UTR	NM_018690	NP_061160	Q0VD83	APOBR_HUMAN	Homo sapiens apolipoprotein B receptor (APOBR), mRNA.	335	Glu-rich.				cholesterol metabolic process|lipid transport	chylomicron|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1)	29						CTCGGGAGGGGAGGAGGCCGG	0.716000														12			5		0	0	0.00116845	0	0
CES5A	221223	broad.mit.edu	37	16	55880590	55880590	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr16:55880590G>A	uc021tir.1	-	13	1734	c.1588C>T	c.(1588-1590)Cct>Tct	p.P530S	CES5A_uc002eip.2_Missense_Mutation_p.P501S|CES5A_uc002eio.2_Missense_Mutation_p.P451S|CES5A_uc002eiq.2_Missense_Mutation_p.P262S|CES5A_uc002eir.2_Missense_Mutation_p.P395S	NM_001190158	NP_001177087	Q6NT32	EST5A_HUMAN	Homo sapiens carboxylesterase 5A (CES5A), transcript variant 3, mRNA.	501						extracellular region	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						TTCCCATTAGGATTCCTAGAA	0.542000														87			17		0	0	0.00400662	0	0
SLC17A1	6568	broad.mit.edu	37	6	25819814	25819814	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:25819814T>C	uc003nfh.4	-	4	570	c.454A>G	c.(454-456)Aca>Gca	p.T152A	SLC17A1_uc011djy.2_Non-coding_Transcript|SLC17A1_uc010jqb.1_Missense_Mutation_p.T152A|SLC17A1_uc010jqc.1_Missense_Mutation_p.T150A	NM_005074	NP_005065	Q14916	NPT1_HUMAN	Homo sapiens solute carrier family 17 (sodium phosphate), member 1 (SLC17A1), mRNA.	152					sodium ion transport|urate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent phosphate transmembrane transporter activity|symporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	36						AACTGGGCTGTTGCAACTATC	0.378000														56			16		0	0	0.00400662	0	0
PRSS35	167681	broad.mit.edu	37	6	84234178	84234178	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:84234178G>A	uc003pjz.3	+	1	1258	c.1018G>A	c.(1018-1020)Gat>Aat	p.D340N	PRSS35_uc010kbm.3_Missense_Mutation_p.D340N|PRSS35_uc021zce.1_Missense_Mutation_p.D340N	NM_153362	NP_699193	Q8N3Z0	PRS35_HUMAN	Homo sapiens protease, serine, 35 (PRSS35), transcript variant 2, mRNA.	340	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|endometrium(2)|large_intestine(12)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	32		all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0768)		CCAATACTGCGATGCTGAGTC	0.488000														71			23		0	0	0.000878237	0	0
CFTR	1080	broad.mit.edu	37	7	117232021	117232021	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:117232021G>A	uc003vjd.3	+	13	1932	c.1800G>A	c.(1798-1800)agG>agA	p.R600R	CFTR_uc011knq.2_Silent_p.R6R	NM_000492	NP_000483	P13569	CFTR_HUMAN	Homo sapiens cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) (CFTR), mRNA.	600	ABC transporter 1.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|PDZ domain binding|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	ACAAAACTAGGATTTTGGTCA	0.279000									Cystic Fibrosis					97			38		0	0	0.00361006	0	0
KIAA0368	23392	broad.mit.edu	37	9	114136276	114136276	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr9:114136276G>A	uc004bfe.1	-	39	4687	c.4687C>T	c.(4687-4689)Cct>Tct	p.P1563S		NM_001080398	NP_001073867			Homo sapiens KIAA0368 (KIAA0368), mRNA.											NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						AGGTCCTGAGGACACTGAGTA	0.428000														76			63		0	0	0.00361006	0	0
CYP4F3	4051	broad.mit.edu	37	19	15758116	15758116	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:15758116G>A	uc010xok.2	+	4	557	c.507G>A	c.(505-507)gaG>gaA	p.E169E	CYP4F3_uc010xol.2_Silent_p.E169E|CYP4F3_uc002nbj.3_Silent_p.E169E|CYP4F3_uc010xom.2_Silent_p.E20E|CYP4F3_uc002nbk.3_Silent_p.E169E|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.	169					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			endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						TTTTCAATGAGAGTGTGAACA	0.502000														116			30		0	0	0.00327116	0	0
ALPP	250	broad.mit.edu	37	2	233244537	233244537	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:233244537C>T	uc002vsq.3	+	4	713	c.548C>T	c.(547-549)gCc>gTc	p.A183V		NM_001632	NP_001623	P05187	PPB1_HUMAN	Homo sapiens alkaline phosphatase, placental (ALPP), mRNA.	183						anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		GGCACCTACGCCCACACGGTG	0.627000														14			9		0	0	0.000442599	0	0
NOL4	8715	broad.mit.edu	37	18	31537410	31537410	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr18:31537410C>T	uc010dmi.3	-	7	1606	c.1308G>A	c.(1306-1308)aaG>aaA	p.K436K	NOL4_uc010xbs.2_Silent_p.K151K|NOL4_uc002kxr.4_Intron|NOL4_uc010xbt.2_Silent_p.K362K|NOL4_uc010dmh.3_Intron|NOL4_uc010xbu.2_Intron|NOL4_uc002kxt.4_Intron|NOL4_uc010xbv.1_Intron	NM_003787	NP_001185478	O94818	NOL4_HUMAN	Homo sapiens nucleolar protein 4 (NOL4), transcript variant 1, mRNA.	436						nucleolus	RNA binding			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						TAGCCTGGATCTTTTCTTTGG	0.478000														47			13		0	0	0.00185496	0	0
ACBD4	79777	broad.mit.edu	37	17	43216425	43216425	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr17:43216425G>A	uc002iid.2	+	8	1021	c.677G>A	c.(676-678)tGg>tAg	p.W226*	ACBD4_uc010wjj.2_Nonsense_Mutation_p.W242*|ACBD4_uc002iie.3_Nonsense_Mutation_p.W242*|ACBD4_uc002iif.3_Silent_p.L229L|ACBD4_uc002iic.3_Silent_p.L229L|ACBD4_uc010dae.3_Nonsense_Mutation_p.W164*	NM_001135707	NP_001129179	Q8NC06	ACBD4_HUMAN	Homo sapiens acyl-CoA binding domain containing 4 (ACBD4), transcript variant 5, mRNA.	226							fatty-acyl-CoA binding			kidney(1)|lung(3)|ovary(1)	5						CCCAGGAGTTGGACGTGTGGC	0.687000														29			29		0	0	0.00327116	0	0
ZYX	7791	broad.mit.edu	37	7	143079425	143079425	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:143079425C>T	uc003wcx.3	+	2	451	c.293C>T	c.(292-294)cCc>cTc	p.P98L	ZYX_uc011ktd.2_5'UTR|ZYX_uc003wcw.3_Missense_Mutation_p.P98L|ZYX_uc011kte.2_Missense_Mutation_p.P98L|ZYX_uc011ktf.2_5'UTR	NM_003461	NP_003452	Q15942	ZYX_HUMAN	Homo sapiens zyxin (ZYX), transcript variant 1, mRNA.	98	Pro-rich.				cell adhesion|cell-cell signaling|interspecies interaction between organisms|signal transduction	cell-cell adherens junction|cytoplasm|focal adhesion|integral to plasma membrane|nucleus|stress fiber	protein binding|zinc ion binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)	17	Melanoma(164;0.205)					CCGCCCCCTCCCCCGATCGAG	0.677000														23			8		0	0	0.000442599	0	0
RP1L1	94137	broad.mit.edu	37	8	10470341	10470341	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr8:10470341G>A	uc003wtc.3	-	3	1496	c.1267C>T	c.(1267-1269)Cgg>Tgg	p.R423W		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA.	423					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CACCTCTTCCGAGCTGCCACT	0.667000														38			12		0	0	0.000566183	0	0
PLXDC2	84898	broad.mit.edu	37	10	20453483	20453483	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr10:20453483C>T	uc001iqg.1	+	6	1507	c.870C>T	c.(868-870)atC>atT	p.I290I	PLXDC2_uc001iqh.1_Silent_p.I241I|PLXDC2_uc009xkc.1_Non-coding_Transcript	NM_032812	NP_116201	Q6UX71	PXDC2_HUMAN	Homo sapiens plexin domain containing 2 (PLXDC2), mRNA.	290						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						TCCACAGGATCCAACAAATTC	0.448000														21			17		0	0	0.000958276	0	0
CDH10	1008	broad.mit.edu	37	5	24537681	24537681	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:24537681G>A	uc003jgr.2	-	2	840	c.334C>T	c.(334-336)Cat>Tat	p.H112Y	CDH10_uc011cnu.2_Non-coding_Transcript	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	Homo sapiens cadherin 10, type 2 (T2-cadherin) (CDH10), mRNA.	112	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.H112Y(2)		NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		CTTGTGGCATGAATATCACCT	0.403000										HNSCC(23;0.051)				80			20		0	0	0.00152264	0	0
RBPJ	3516	broad.mit.edu	37	4	26417130	26417130	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr4:26417130G>T	uc003grx.2	+	4	464	c.228G>T	c.(226-228)atG>atT	p.M76I	RBPJ_uc003gry.2_Missense_Mutation_p.M61I|RBPJ_uc003grz.2_Missense_Mutation_p.M76I|RBPJ_uc011bxt.2_Missense_Mutation_p.M76I|RBPJ_uc003gsa.2_Missense_Mutation_p.M62I|RBPJ_uc003gsb.2_Missense_Mutation_p.M63I	NM_005349	NP_005340	Q06330	SUH_HUMAN	Homo sapiens recombination signal binding protein for immunoglobulin kappa J region (RBPJ), transcript variant 1, mRNA.	76					DNA recombination|negative regulation of transcription, DNA-dependent|positive regulation of transcription of Notch receptor target	cytoplasm|nucleolus|nucleoplasm	DNA binding|protein binding|recombinase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)	15		Breast(46;0.0503)				TATATCTTATGGGCAGTGGAT	0.363000														106			6		0.00116845	0.00365189	0.00116845	1	0
WDTC1	23038	broad.mit.edu	37	1	27618754	27618754	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:27618754C>T	uc009vst.2	+	6	1063	c.528C>T	c.(526-528)gaC>gaT	p.D176D	WDTC1_uc001bno.3_Silent_p.D176D|WDTC1_uc001bnp.1_Non-coding_Transcript	NM_015023	NP_055838	Q8N5D0	WDTC1_HUMAN	Homo sapiens WD and tetratricopeptide repeats 1 (WDTC1), mRNA.	176							protein binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	21		all_cancers(24;3.12e-19)|all_epithelial(13;4.18e-18)|Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.00257)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0443)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;1.02e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00201)|STAD - Stomach adenocarcinoma(196;0.00321)|READ - Rectum adenocarcinoma(331;0.0476)		TGCTGATTGACCTGACAGAGT	0.577000														68			15		0	0	0.00400662	0	0
ADAM7	8756	broad.mit.edu	37	8	24339764	24339764	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr8:24339764C>T	uc003xeb.3	+	8	928	c.815C>T	c.(814-816)tCa>tTa	p.S272L	ADAM7_uc003xec.3_Missense_Mutation_p.S44L	NM_003817	NP_003808	Q9H2U9	ADAM7_HUMAN	Homo sapiens ADAM metallopeptidase domain 7 (ADAM7), mRNA.	272	Peptidase M12B.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		TTGCGTTTTTCATTTTGGCAA	0.338000														72			28		0	0	0.000720815	0	0
CYP2S1	29785	broad.mit.edu	37	19	41704646	41704646	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:41704646C>T	uc002opw.3	+	4	742	c.687C>T	c.(685-687)ccC>ccT	p.P229P	CYP2S1_uc010xvx.2_Intron	NM_030622	NP_085125	Q96SQ9	CP2S1_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily S, polypeptide 1 (CYP2S1), mRNA.	229					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity			breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(2)	14						TCCTGCGGCCCCTGCCAGGCC	0.617000														71			26		0	0	0.001512	0	0
ANTXR1	84168	broad.mit.edu	37	2	69240670	69240670	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:69240670C>T	uc002sfg.3	+	0	395	c.39C>T	c.(37-39)ttC>ttT	p.F13F	ANTXR1_uc002sfe.3_Silent_p.F13F|ANTXR1_uc002sff.3_Silent_p.F13F|ANTXR1_uc002sfd.2_Silent_p.F13F	NM_032208	NP_115584	Q9H6X2	ANTR1_HUMAN	Homo sapiens anthrax toxin receptor 1 (ANTXR1), transcript variant 1, mRNA.	13					actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading	filopodium membrane|integral to membrane|lamellipodium membrane	actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						GCATCGGCTTCCAGTGGCTCT	0.692000									Familial Infantile Hemangioma					10			6		0	0	0.00198382	0	0
CYP4A11	1579	broad.mit.edu	37	1	47402383	47402383	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:47402383G>A	uc001cqp.4	-	3	514	c.463C>T	c.(463-465)Ctg>Ttg	p.L155L	CYP4A11_uc001cqq.2_Silent_p.L155L|CYP4A11_uc010omm.1_Non-coding_Transcript	NM_000778	NP_000769	Q02928	CP4AB_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily A, polypeptide 11 (CYP4A11), mRNA.	155					long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding			endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					NADH(DB00157)	TAGGGCTTCAGGATGTCATAG	0.547000														44			29		0	0	0.00178596	0	0
ACACA	31	broad.mit.edu	37	17	35578713	35578713	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr17:35578713G>A	uc002hnm.3	-	28	3695	c.3504C>T	c.(3502-3504)caC>caT	p.H1168H	ACACA_uc002hnk.3_Silent_p.H1090H|ACACA_uc002hnl.3_Silent_p.H1110H|ACACA_uc002hnn.3_Silent_p.H1168H|ACACA_uc002hno.3_Silent_p.H1205H|ACACA_uc010cuz.3_Silent_p.H1168H	NM_198836	NP_942135	Q13085	ACACA_HUMAN	Homo sapiens acetyl-CoA carboxylase alpha (ACACA), transcript variant 3, mRNA.	1168					acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	ATP binding|acetyl-CoA carboxylase activity|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	TAAGCTGGCGGTGTTGTACGC	0.438000														77			21		0	0	0.00229938	0	0
MUC16	94025	broad.mit.edu	37	19	8999533	8999534	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:8999533_8999534CC>TT	uc002mkp.3	-	55	40845_40846	c.40641_40642GG>AA	c.(40639-40644)gtggat>gtAAat	p.D13548N	MUC16_uc010dwi.3_Non-coding_Transcript|MUC16_uc010dwj.3_Missense_Mutation_p.D365N|MUC16_uc021uog.1_Non-coding_Transcript	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	13550	SEA 10.			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						CAGATGGCATCCACTTTGGTGG	0.584000														34			12		0	0	6.4e-05	0	0
TTN	7273	broad.mit.edu	37	2	179554320	179554320	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:179554320G>A	uc021vsy.1	-	119	28342	c.28117C>T	c.(28117-28119)Cct>Tct	p.P9373S	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.P6034S|TTN_uc010fre.1_Missense_Mutation_p.P484S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	10300	Ig-like 77.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGTACTTCAGGAACTTGAAGA	0.368000														23			7		0	0	0.00307968	0	0
FOXD4	2298	broad.mit.edu	37	9	117520	117520	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr9:117520G>A	uc003zfz.3	-	0	898	c.600C>T	c.(598-600)ttC>ttT	p.F200F		NM_207305	NP_997188	Q12950	FOXD4_HUMAN	Homo sapiens forkhead box D4 (FOXD4), mRNA.	200					axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	14	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		GGTGGCGCTGGAAACGCTTCC	0.692000														62			54		0	0	0.00361006	0	0
ZIC2	7546	broad.mit.edu	37	13	100635374	100635374	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr13:100635374C>T	uc001von.3	+	0	1349	c.1056C>T	c.(1054-1056)atC>atT	p.I352I		NM_007129	NP_009060	O95409	ZIC2_HUMAN	Homo sapiens Zic family member 2 (ZIC2), mRNA.	352					brain development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|visual perception	cytoplasm|nucleus	chromatin DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.I352V(1)		large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					ACCTCAAGATCCACAAAAGGA	0.642000														31			12		0	0	0.00185496	0	0
CRYGN	155051	broad.mit.edu	37	7	151127230	151127230	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:151127230G>A	uc003wke.3	-	3	549	c.453C>T	c.(451-453)ttC>ttT	p.F151F	CRYGN_uc003wkf.3_3'UTR|CRYGN_uc003wkg.3_Non-coding_Transcript	NM_144727	NP_653328	Q8WXF5	CRGN_HUMAN	Homo sapiens crystallin, gamma N (CRYGN), mRNA.	151										central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(1)|lung(4)	8			OV - Ovarian serous cystadenocarcinoma(82;0.00358)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGCTCAGCTGGAAGTCCTCAG	0.562000														40			30		0	0	0.001512	0	0
ZNF800	168850	broad.mit.edu	37	7	127013995	127013995	+	Silent	SNP	A	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:127013995A>T	uc010lla.2	-	4	2107	c.1395T>A	c.(1393-1395)gcT>gcA	p.A465A	ZNF800_uc003vlw.1_Silent_p.A368A|ZNF800_uc003vlx.1_Silent_p.A465A|ZNF800_uc003vly.1_Silent_p.A465A	NM_176814	NP_789784	Q2TB10	ZN800_HUMAN	Homo sapiens zinc finger protein 800 (ZNF800), mRNA.	465					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(8)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	32						GGCCACCTGCAGCCGACGGAC	0.388000														72			44		0	0	0.00361006	0	0
C12orf26	84190	broad.mit.edu	37	12	82796878	82796878	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:82796878C>T	uc001szq.3	+	4	1317	c.1248C>T	c.(1246-1248)ctC>ctT	p.L416L		NM_032230	NP_115606	Q8N6Q8	CL026_HUMAN	Homo sapiens chromosome 12 open reading frame 26 (C12orf26), mRNA.	416										breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	19						GCTACCACCTCTTATCTGAAG	0.373000														26			16		0	0	0.000566183	0	0
SLC4A8	9498	broad.mit.edu	37	12	51883546	51883546	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:51883546C>T	uc001rys.1	+	18	2689	c.2511C>T	c.(2509-2511)atC>atT	p.I837I	SLC4A8_uc001rym.3_Silent_p.I784I|SLC4A8_uc001ryn.3_Silent_p.I784I|SLC4A8_uc001ryo.2_Silent_p.I784I|SLC4A8_uc010snj.2_Silent_p.I864I|SLC4A8_uc001ryr.3_Silent_p.I837I	NM_001039960	NP_001035049	Q2Y0W8	S4A8_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 8 (SLC4A8), transcript variant 1, mRNA.	837					bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		TCTGCTCCATCATGGGCCTGC	0.532000														62			21		0	0	0.00278032	0	0
AARS2	57505	broad.mit.edu	37	6	44275008	44275008	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:44275008A>T	uc010jza.1	-	5	1021	c.1018T>A	c.(1018-1020)Ttc>Atc	p.F340I	TMEM151B_uc003oxg.3_Non-coding_Transcript|TMEM151B_uc003oxf.2_3'UTR	NM_020745	NP_065796	Q5JTZ9	SYAM_HUMAN	Homo sapiens alanyl-tRNA synthetase 2, mitochondrial (putative) (AARS2), nuclear gene encoding mitochondrial protein, mRNA.	340					alanyl-tRNA aminoacylation	mitochondrion	ATP binding|alanine-tRNA ligase activity|metal ion binding|tRNA binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		L-Alanine(DB00160)	ATCCCAGGGAAGATGCCATCA	0.642000														17			8		0	0	0.000442599	0	0
OR13D1	286365	broad.mit.edu	37	9	107457211	107457211	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr9:107457211G>A	uc011lvs.2	+	0	509	c.509G>A	c.(508-510)gGa>gAa	p.G170E		NM_001004484	NP_001004484	Q8NGV5	O13D1_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily D, member 1 (OR13D1), mRNA.	170					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(4)|lung(10)|ovary(1)|prostate(2)|skin(2)	19						ATCATGAACGGAGTGCTGTAT	0.512000														77			38		0	0	0.00111076	0	0
MYH15	22989	broad.mit.edu	37	3	108195301	108195301	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:108195301G>A	uc003dxa.1	-	12	1293	c.1236C>T	c.(1234-1236)atC>atT	p.I412I		NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN	Homo sapiens myosin, heavy chain 15 (MYH15), mRNA.	412	Myosin head-like.					myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						TTCTAGGATGGATCAAGCACT	0.388000														33			14		0	0	0.00185496	0	0
FTSJ3	117246	broad.mit.edu	37	17	61903470	61903470	+	Silent	SNP	A	G	G			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr17:61903470A>G	uc002jbz.3	-	3	324	c.246T>C	c.(244-246)ccT>ccC	p.P82P	FTSJ3_uc002jca.3_Silent_p.P82P|PSMC5_uc002jcb.3_5'Flank|PSMC5_uc010ddy.3_5'Flank|PSMC5_uc002jcd.3_5'Flank	NM_017647	NP_060117	Q8IY81	RRMJ3_HUMAN	Homo sapiens FtsJ homolog 3 (E. coli) (FTSJ3), mRNA.	82					RNA methylation|rRNA processing	nucleolus	methyltransferase activity|nucleic acid binding			breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						CATTGGGGAGAGGCTTGATTG	0.468000														104			97		0	0	0.00361006	0	0
SLC44A5	204962	broad.mit.edu	37	1	75681480	75681480	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:75681480C>T	uc010oqz.1	-	17	1870	c.1804G>A	c.(1804-1806)Gaa>Aaa	p.E602K	SLC44A5_uc001dgt.2_Missense_Mutation_p.E563K|SLC44A5_uc001dgs.2_Missense_Mutation_p.E521K|SLC44A5_uc001dgr.2_Missense_Mutation_p.E521K|SLC44A5_uc001dgu.3_Missense_Mutation_p.E563K|SLC44A5_uc010ora.2_Missense_Mutation_p.E557K|SLC44A5_uc010orb.2_Missense_Mutation_p.E433K	NM_001130058	NP_001123530	Q8NCS7	CTL5_HUMAN	Homo sapiens solute carrier family 44, member 5 (SLC44A5), transcript variant 2, mRNA.	563						integral to membrane|plasma membrane	choline transmembrane transporter activity			kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						ATTGCATTTTCCAAACACCAG	0.338000														74			28		0	0	0.00375469	0	0
ECE2	9718	broad.mit.edu	37	3	184008848	184008849	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:184008848_184008849GG>AA	uc003fni.4	+	16	2247_2248	c.2209_2210GG>AA	c.(2209-2211)ggg>AAg	p.G737K	ECE2_uc011brh.1_Missense_Mutation_p.G590K|ECE2_uc003fnl.4_Missense_Mutation_p.G665K|ECE2_uc003fnm.4_Missense_Mutation_p.G619K|ECE2_uc003fnk.4_Missense_Mutation_p.G590K|ECE2_uc011bri.1_Missense_Mutation_p.G652K|ECE2_uc010hxv.3_3'UTR	NM_014693	NP_055508	O60344	ECE2_HUMAN	Homo sapiens endothelin converting enzyme 2 (ECE2), transcript variant 1, mRNA.	737	Endothelin-converting enzyme 2 region.				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	Golgi membrane|cytoplasmic vesicle membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TGACAAAGAAGGGAACCTGCGG	0.599000														54			13		0	0	6.4e-05	0	0
H19	283120	broad.mit.edu	37	11	2016494	2016494	+	RNA	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:2016494G>A	uc021qbx.1	-	0		c.310C>T			H19_uc021qby.1_Non-coding_Transcript|H19_uc001lva.4_Non-coding_Transcript|H19_uc021qbz.1_Non-coding_Transcript					Homo sapiens PRO2605 mRNA, complete cds.																		GGGCGTAATGGAATGCTTGAA	0.617000									Beckwith-Wiedemann syndrome					31			11		0	0	0.000673444	0	0
TRIM71	131405	broad.mit.edu	37	3	32932742	32932742	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:32932742C>T	uc003cff.3	+	3	2109	c.2046C>T	c.(2044-2046)ttC>ttT	p.F682F		NM_001039111	NP_001034200	Q2Q1W2	LIN41_HUMAN	Homo sapiens tripartite motif containing 71 (TRIM71), mRNA.	682					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						TCTTCACGTTCGAGGGCCAGT	0.577000														15			19		0	0	0.000958276	0	0
SPON1	10418	broad.mit.edu	37	11	14276093	14276093	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:14276093G>A	uc001mle.3	+	8	1175	c.907G>A	c.(907-909)Gaa>Aaa	p.E303K		NM_006108	NP_006099	Q9HCB6	SPON1_HUMAN	Homo sapiens spondin 1, extracellular matrix protein (SPON1), mRNA.	304	Spondin.				cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding			NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21				Epithelial(150;0.00898)		ACCTTCAGCTGAATTTTCCGT	0.493000														28			13		0	0	0.00400662	0	0
OSBP2	23762	broad.mit.edu	37	22	31091508	31091508	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr22:31091508C>T	uc003aiy.1	+	0	716	c.612C>T	c.(610-612)ttC>ttT	p.F204F	OSBP2_uc011ala.1_Intron|OSBP2_uc010gwc.1_Intron|OSBP2_uc003aix.1_Silent_p.F204F|OSBP2_uc011alb.1_Silent_p.F204F|OSBP2_uc003aiz.1_Silent_p.F204F	NM_030758	NP_110385	Q969R2	OSBP2_HUMAN	Homo sapiens oxysterol binding protein 2 (OSBP2), transcript variant 1, mRNA.	204	PH.				lipid transport	membrane	lipid binding			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						GCCGCTGGTTCGTGCTGGGCA	0.602000														59			23		0	0	0.000878237	0	0
LCE1B	353132	broad.mit.edu	37	1	152785068	152785068	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:152785068G>A	uc001faq.3	+	0	622	c.146G>A	c.(145-147)gGa>gAa	p.G49E		NM_178349	NP_848126	Q5T7P3	LCE1B_HUMAN	Homo sapiens late cornified envelope 1B (LCE1B), mRNA.	49	Gly-rich.				keratinization			p.G49*(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|skin(2)	18	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GTCAGCTCCGGAGGCTGCTGT	0.647000														57			33		0	0	0.00111076	0	0
MEGF8	1954	broad.mit.edu	37	19	42861645	42861645	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:42861645C>T	uc002otl.4	+	26	5354	c.4719C>T	c.(4717-4719)tcC>tcT	p.S1573S	MEGF8_uc002otm.4_Silent_p.S1181S	NM_001410	NP_001401	Q7Z7M0	MEGF8_HUMAN	Homo sapiens multiple EGF-like-domains 8 (MEGF8), mRNA.	1640						integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				GCGGTTACTCCCCGGAAAATG	0.667000														31			9		0	0	0.000673444	0	0
CD33	945	broad.mit.edu	37	19	51729165	51729165	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:51729165G>A	uc002pwa.2	+	2	565	c.525G>A	c.(523-525)ccG>ccA	p.P175P	CD33_uc010eos.1_Silent_p.P175P|CD33_uc010eot.1_Silent_p.P48P|CD33_uc010eou.1_Non-coding_Transcript	NM_001772	NP_001763	P20138	CD33_HUMAN	Homo sapiens CD33 molecule (CD33), transcript variant 1, mRNA.	175	Ig-like C2-type.				cell adhesion|cell-cell signaling|negative regulation of cell proliferation	external side of plasma membrane|integral to plasma membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1)	24		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	Gemtuzumab ozogamicin(DB00056)	GAACACCCCCGATCTTCTCCT	0.627000														46			23		0	0	0.00229938	0	0
CUL4A	8451	broad.mit.edu	37	13	113899312	113899312	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr13:113899312C>T	uc021rmv.1	+	12	1394	c.1383C>T	c.(1381-1383)ctC>ctT	p.L461L	CUL4A_uc021rmu.1_Silent_p.L361L|CUL4A_uc010agu.3_Silent_p.L322L|CUL4A_uc010tjz.2_Silent_p.L140L	NM_001008895	NP_003580	Q13619	CUL4A_HUMAN	Homo sapiens cullin 4A (CUL4A), transcript variant 1, mRNA.	461					DNA repair|G1/S transition of mitotic cell cycle|cell cycle arrest|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex	ubiquitin protein ligase binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|skin(1)	17	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.112)			CAAAAAGACTCCTTGTTGGGA	0.403000														39			23		0	0	0.000878237	0	0
SBDSP1	155370	broad.mit.edu	37	7	72302357	72302357	+	RNA	SNP	C	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:72302357C>A	uc003twf.3	+	2		c.709C>A			SBDSP1_uc011kel.2_Non-coding_Transcript|SBDSP1_uc003twg.3_Non-coding_Transcript|SBDSP1_uc003twh.3_Non-coding_Transcript					Homo sapiens Shwachman-Bodian-Diamond syndrome pseudogene 1 (SBDSP1), transcript variant 3, non-coding RNA.																		TGGTGAAAACCAACAGGAGTA	0.398000														96			6		0.00307968	0.00956451	0.00307968	1	0
PSD3	23362	broad.mit.edu	37	8	18729234	18729234	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr8:18729234G>A	uc003wza.3	-	2	1243	c.1140C>T	c.(1138-1140)tcC>tcT	p.S380S		NM_015310	NP_056125	Q9NYI0	PSD3_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing 3 (PSD3), transcript variant 1, mRNA.	380					regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		GACGCACAGGGGAAAATGTCC	0.468000														31			16		0	0	0.000566183	0	0
XIRP2	129446	broad.mit.edu	37	2	168104261	168104261	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:168104261C>T	uc002udx.3	+	8	6448	c.6359C>T	c.(6358-6360)aCc>aTc	p.T2120I	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.T1945I|XIRP2_uc010fpq.3_Missense_Mutation_p.T1898I|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	1945	Pro-rich.				actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GCTGGTAAAACCGTTGGAAAG	0.353000														37			9		0	0	0.000442599	0	0
FRA10AC1	118924	broad.mit.edu	37	10	95454674	95454674	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr10:95454674G>A	uc001kiz.2	-	4	438	c.240C>T	c.(238-240)ttC>ttT	p.F80F	FRA10AC1_uc001kiv.2_Non-coding_Transcript|FRA10AC1_uc001kjb.1_Silent_p.F80F|FRA10AC1_uc009xuh.1_Silent_p.F81F	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.	80						nucleus	protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|urinary_tract(1)	14						AGTCATTTACGAACTTTGTAT	0.333000														83			52		0	0	0.00361006	0	0
C12orf35	55196	broad.mit.edu	37	12	32137752	32137752	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:32137752C>T	uc001rks.3	+	3	4277	c.3863C>T	c.(3862-3864)cCc>cTc	p.P1288L		NM_018169	NP_060639	Q9HCM1	CL035_HUMAN	Homo sapiens chromosome 12 open reading frame 35 (C12orf35), mRNA.	1288										NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	59	all_cancers(9;3.36e-11)|all_epithelial(9;2.56e-11)|all_lung(12;5.67e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0336)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0114)			AAACTAAATCCCTTGCAAAAT	0.343000														30			7		0	0	0.00198382	0	0
TCF21	6943	broad.mit.edu	37	6	134210846	134210846	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:134210846C>T	uc003qei.4	+	0	588	c.311C>T	c.(310-312)aCc>aTc	p.T104I	BC041459_uc003qeg.1_5'Flank|TCF21_uc003qej.2_Missense_Mutation_p.T104I	NM_003206	NP_938206	O43680	TCF21_HUMAN	Homo sapiens transcription factor 21 (TCF21), transcript variant 2, mRNA.	104	Helix-loop-helix motif.				branching involved in ureteric bud morphogenesis|mesoderm development|negative regulation of androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent	nucleus	E-box binding|androgen receptor binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	13	Colorectal(23;0.221)|Breast(56;0.247)			GBM - Glioblastoma multiforme(68;0.00518)|OV - Ovarian serous cystadenocarcinoma(155;0.00783)		AGACTCAAGACCACCCTGCCC	0.667000														61			20		0	0	0.00121646	0	0
HEATR7B2	133558	broad.mit.edu	37	5	41004875	41004875	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:41004875C>T	uc003jmj.4	-	36	4501	c.4011_splice	c.e36+1	p.K1337_splice	HEATR7B2_uc003jmi.4_Splice_Site_p.K892_splice	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	1337							binding			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4)	133						ACGCCTTTTACCTTGTGAGGA	0.458000														49			23		0	0	0.000720815	0	0
OR52D1	390066	broad.mit.edu	37	11	5510709	5510709	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:5510709C>T	uc010qzg.2	+	0	795	c.773C>T	c.(772-774)gCc>gTc	p.A258V	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron	NM_001005163	NP_001005163	Q9H346	O52D1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily D, member 1 (OR52D1), mRNA.	258					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A258T(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TACATCCCTGCCTTCTTCTCC	0.517000														44			27		0	0	0.00106085	0	0
AURKC	6795	broad.mit.edu	37	19	57743539	57743539	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:57743539G>A	uc002qoe.3	+	2	432	c.243G>A	c.(241-243)aaG>aaA	p.K81K	AURKC_uc002qoc.3_Silent_p.K62K|AURKC_uc002qod.3_Silent_p.K47K|AURKC_uc010etv.3_Silent_p.K78K	NM_001015878	NP_003151	Q9UQB9	AURKC_HUMAN	Homo sapiens aurora kinase C (AURKC), transcript variant 1, mRNA.	81	Protein kinase.				cell cycle|cytokinesis	condensed chromosome|cytoplasm|midbody|spindle midzone	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(1)|large_intestine(9)|lung(9)|ovary(3)|prostate(1)|stomach(1)	25		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0122)		AGATAGAGAAGGAAGGACTGG	0.522000														32			11		0	0	0.000978159	0	0
TRIM69	140691	broad.mit.edu	37	15	45047536	45047536	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr15:45047536G>A	uc001zuf.2	+	2	1340	c.445G>A	c.(445-447)Gag>Aag	p.E149K	TRIM69_uc001zug.1_Missense_Mutation_p.E149K|TRIM69_uc001zuh.1_Intron|TRIM69_uc001zui.1_Intron|TRIM69_uc010bdy.1_Intron	NM_182985	NP_892030	Q86WT6	TRI69_HUMAN	Homo sapiens tripartite motif containing 69 (TRIM69), transcript variant a, mRNA.	149	Necessary for nuclear localization (By similarity).				apoptosis	nuclear speck	zinc ion binding	p.K148R(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(9)|skin(1)	20		all_cancers(109;2.47e-13)|all_epithelial(112;2.84e-11)|Lung NSC(122;2.23e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;5.5e-19)|GBM - Glioblastoma multiforme(94;1.07e-06)|Colorectal(105;0.138)|COAD - Colon adenocarcinoma(120;0.141)		GCAGTCTAAGGAGTTCCTGCA	0.473000														18			14		0	0	0.00244969	0	0
FAM75E1	286234	broad.mit.edu	37	9	90500389	90500389	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr9:90500389G>A	uc004app.4	+	3	1022	c.987G>A	c.(985-987)cgG>cgA	p.R329R	FAM75E1_uc004apo.1_Silent_p.R141R	NM_178828	NP_849150	Q6ZUB1	CI079_HUMAN	Homo sapiens chromosome 9 open reading frame 79 (C9orf79), mRNA.	329						integral to membrane											CCCAGCCACGGCATCTTCCCG	0.612000														32			9		0	0	0.000274275	0	0
ADAM28	10863	broad.mit.edu	37	8	24201064	24201064	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr8:24201064C>T	uc003xdy.3	+	17	2040	c.1957C>T	c.(1957-1959)Cct>Tct	p.P653S	ADAM28_uc011laa.2_Non-coding_Transcript|ADAM28_uc010lua.3_Missense_Mutation_p.P340S	NM_014265	NP_055080	Q9UKQ2	ADA28_HUMAN	Homo sapiens ADAM metallopeptidase domain 28 (ADAM28), transcript variant 1, mRNA.	653	EGF-like.				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		AGGATGGATCCCTCCCGACTG	0.483000														35			13		0	0	0.00400662	0	0
HCN3	57657	broad.mit.edu	37	1	155252280	155252281	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:155252280_155252281GG>AA	uc001fjz.1	+	1	365_366	c.357_358GG>AA	c.(355-360)aaggag>aaAAag	p.E120K	HCN3_uc010pfz.1_5'UTR	NM_020897	NP_065948	Q9P1Z3	HCN3_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 3 (HCN3), mRNA.	120						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CCTTCTTCAAGGAGGAGAACTC	0.535000														45			17		0	0	6.4e-05	0	0
CDH10	1008	broad.mit.edu	37	5	24488091	24488091	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:24488091T>C	uc003jgr.2	-	11	2554	c.2048A>G	c.(2047-2049)gAa>gGa	p.E683G	CDH10_uc011cnu.2_Non-coding_Transcript	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	Homo sapiens cadherin 10, type 2 (T2-cadherin) (CDH10), mRNA.	683					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.E682G(1)		NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		GAGCTTTTTTTCCTCAATGGC	0.478000										HNSCC(23;0.051)				47			26		0	0	0.00106085	0	0
SSH1	54434	broad.mit.edu	37	12	109182305	109182305	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:109182305G>A	uc001tnm.3	-	14	2696	c.2609C>T	c.(2608-2610)cCc>cTc	p.P870L	SSH1_uc001tnl.3_Missense_Mutation_p.P558L	NM_018984	NP_061857	Q8WYL5	SSH1_HUMAN	Homo sapiens slingshot homolog 1 (Drosophila) (SSH1), transcript variant 1, mRNA.	870					actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly	cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CATAACCAGGGGGCCCAGCTC	0.667000														31			15		0	0	0.00316338	0	0
CSF3R	1441	broad.mit.edu	37	1	36941239	36941240	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:36941239_36941240GG>AA	uc001caw.2	-	3	683_684	c.99_100CC>TT	c.(97-102)gccccc>gcTTcc	p.P34S	CSF3R_uc001cav.2_Missense_Mutation_p.P34S|CSF3R_uc001cax.2_Missense_Mutation_p.P34S	NM_000760	NP_000751	Q99062	CSF3R_HUMAN	Homo sapiens colony stimulating factor 3 receptor (granulocyte) (CSF3R), transcript variant 1, mRNA.	34	Ig-like C2-type.				cell adhesion|defense response	extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	TGGACGATGGGGGCTGAGACAC	0.604000														17			14		0	0	6.4e-05	0	0
LIPJ	142910	broad.mit.edu	37	10	90362355	90362355	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr10:90362355C>T	uc001kff.3	+	8	1060	c.746C>T	c.(745-747)tCa>tTa	p.S249L		NM_001010939	NP_001010939	Q5W064	LIPJ_HUMAN	Homo sapiens lipase, family member J (LIPJ), mRNA.	249					lipid catabolic process		hydrolase activity			large_intestine(4)|lung(4)|ovary(1)	9		all_cancers(4;2.79e-10)|Prostate(4;1.68e-15)|all_epithelial(4;1.43e-09)|Colorectal(252;0.0381)|Breast(4;0.141)|Melanoma(5;0.2)|all_hematologic(4;0.222)		Colorectal(12;1.02e-05)|COAD - Colon adenocarcinoma(12;1.54e-05)		GTGTATTTTTCACACAACCCA	0.313000														22			25		0	0	0.00283554	0	0
NRSN1	140767	broad.mit.edu	37	6	24134690	24134690	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:24134690G>A	uc010jpq.1	+	2	372	c.135G>A	c.(133-135)gaG>gaA	p.E45E		NM_080723	NP_542454	Q8IZ57	NRSN1_HUMAN	Homo sapiens neurensin 1 (NRSN1), mRNA.	45					nervous system development	growth cone|integral to membrane|neuronal cell body|transport vesicle		p.E45*(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	22						GGGAGTATGAGGATGATTTCC	0.473000														39			7		0	0	0.00307968	0	0
OR4C12	283093	broad.mit.edu	37	11	50003394	50003394	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:50003394G>A	uc010ria.2	-	0	678	c.644C>T	c.(643-645)tCc>tTc	p.S215F		NM_001005270	NP_001005270	Q96R67	OR4CC_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 12 (OR4C12), mRNA.	215					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	36						GATCACATAGGATACCACCAA	0.388000														40			14		0	0	0.000566183	0	0
KCNQ3	3786	broad.mit.edu	37	8	133192458	133192458	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr8:133192458G>A	uc003ytj.3	-	3	948	c.723C>T	c.(721-723)gaC>gaT	p.D241D	KCNQ3_uc003yti.3_Silent_p.D121D|KCNQ3_uc010mdt.3_Silent_p.D241D	NM_004519	NP_004510	O43525	KCNQ3_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 3 (KCNQ3), transcript variant 1, mRNA.	241					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			CACCTCTCCGGTCCATCCGCA	0.602000														52			14		0	0	0.00185496	0	0
IGSF10	285313	broad.mit.edu	37	3	151155338	151155338	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:151155338C>T	uc011bod.2	-	5	7011	c.7011G>A	c.(7009-7011)ccG>ccA	p.P2337P	IGSF10_uc011bob.2_Silent_p.P364P|IGSF10_uc011boc.2_Silent_p.P316P	NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	Homo sapiens immunoglobulin superfamily, member 10 (IGSF10), transcript variant 1, mRNA.	2337	Ig-like C2-type 10.				cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TTCTAAATGTCGGTCTTCTCA	0.433000														73			24		0	0	0.00395357	0	0
PCDH15	65217	broad.mit.edu	37	10	55582522	55582522	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr10:55582522G>A	uc010qhy.1	-	34	5380	c.4985C>T	c.(4984-4986)tCt>tTt	p.S1662F	PCDH15_uc010qhq.2_Intron|PCDH15_uc010qhr.2_Intron|PCDH15_uc021pqv.1_Intron|PCDH15_uc021pqw.1_Intron|PCDH15_uc010qht.2_Intron|PCDH15_uc021pqx.1_Intron|PCDH15_uc001jjv.1_Intron|PCDH15_uc021pqy.1_Missense_Mutation_p.S1657F|PCDH15_uc021pqz.1_Missense_Mutation_p.S1632F|PCDH15_uc010qhv.1_Missense_Mutation_p.S1652F|PCDH15_uc010qhw.1_Missense_Mutation_p.S1615F|PCDH15_uc010qhx.1_Missense_Mutation_p.S1586F|PCDH15_uc010qhz.1_Missense_Mutation_p.S1657F|PCDH15_uc010qia.1_Missense_Mutation_p.S1635F|PCDH15_uc001jju.1_Missense_Mutation_p.S1655F|PCDH15_uc010qib.1_Missense_Mutation_p.S1632F	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA.	1655					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	p.S1661*(1)|p.S1661L(1)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TGAAGAGAGAGATTTCAACTG	0.403000										HNSCC(58;0.16)				28			27		0	0	0.000878237	0	0
PALLD	23022	broad.mit.edu	37	4	169433098	169433098	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr4:169433098C>T	uc011cjx.2	+	1	654	c.443C>T	c.(442-444)cCc>cTc	p.P148L	PALLD_uc003iru.3_Missense_Mutation_p.P148L	NM_001166108	NP_001159580	Q8WX93	PALLD_HUMAN	Homo sapiens palladin, cytoskeletal associated protein (PALLD), transcript variant 1, mRNA.	148					cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		GCAAAAACTCCCAGCACAAAC	0.527000									Pancreatic Cancer, Familial Clustering of					47			19		0	0	0.000958276	0	0
PLEKHA8	84725	broad.mit.edu	37	7	30118226	30118226	+	Silent	SNP	A	G	G			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:30118226A>G	uc003taq.3	+	13	1785	c.1383A>G	c.(1381-1383)ccA>ccG	p.P461P	PLEKHA8_uc022aba.1_Intron|PLEKHA8_uc003tan.3_Intron	NM_001197026	NP_001183955	Q96JA3	PKHA8_HUMAN	Homo sapiens pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 8 (PLEKHA8), transcript variant 1, mRNA.	461					protein transport	cytoplasm	glycolipid binding|glycolipid transporter activity			breast(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	17						GGGCAGCTCCATCCTATGAAG	0.453000														37			17		0	0	0.000958276	0	0
HAP1	9001	broad.mit.edu	37	17	39881380	39881380	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr17:39881380C>T	uc002hxm.1	-	11	1601	c.1589G>A	c.(1588-1590)cGa>cAa	p.R530Q	JUP_uc010wfs.2_Intron|HAP1_uc002hxn.1_Missense_Mutation_p.R478Q|HAP1_uc002hxo.1_Missense_Mutation_p.R461Q|HAP1_uc002hxp.1_Missense_Mutation_p.R453Q	NM_177977	NP_817084	P54257	HAP1_HUMAN	Homo sapiens huntingtin-associated protein 1 (HAP1), transcript variant 2, mRNA.	530	Glu-rich.				brain development|protein localization|synaptic transmission	actin cytoskeleton	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(4)|skin(1)	21		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			CACCTGCTCTCGATCCTCACT	0.607000														121			92		0	0	0.00361006	0	0
SLC9A2	6549	broad.mit.edu	37	2	103274324	103274324	+	Silent	SNP	C	T	T	rs139722927		TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:103274324C>T	uc002tca.3	+	1	733	c.591C>T	c.(589-591)ttC>ttT	p.F197F		NM_003048	NP_003039	Q9UBY0	SL9A2_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 2 (SLC9A2), mRNA.	197						integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						TCGAAGCATTCGGCCTCAGCG	0.488000														175			66		0	0	0.00361006	0	0
PLEKHG1	57480	broad.mit.edu	37	6	151152181	151152181	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:151152181C>T	uc011eem.1	+	14	2199	c.2111C>T	c.(2110-2112)cCc>cTc	p.P704L	PLEKHG1_uc011eel.1_Missense_Mutation_p.P685L|PLEKHG1_uc003qny.1_Missense_Mutation_p.P645L|PLEKHG1_uc003qnz.2_Missense_Mutation_p.P645L	NM_001029884	NP_001025055	Q9ULL1	PKHG1_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 1 (PLEKHG1), mRNA.	645					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		GAGATGACTCCCTTTGGGTCA	0.458000														25			12		0	0	0.00244969	0	0
abParts	0	broad.mit.edu	37	22	22664606	22664606	+	RNA	SNP	A	G	G			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr22:22664606A>G	uc021wml.1	+	32		c.2706A>G			abParts_uc011aiq.1_Non-coding_Transcript					Parts of antibodies, mostly variable regions.																		GTCTTCATGCAAACTTGGTAT	0.398000														10			3		0	0	6.4e-05	0	0
CES1	1066	broad.mit.edu	37	16	55862811	55862811	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr16:55862811C>T	uc002eim.3	-	1	233	c.125G>A	c.(124-126)gGa>gAa	p.G42E	CES1_uc002eil.3_Missense_Mutation_p.G43E|CES1_uc002ein.3_Missense_Mutation_p.G42E	NM_001025194	NP_001020365	P23141	EST1_HUMAN	Homo sapiens carboxylesterase 1 (CES1), transcript variant 2, mRNA.	42					response to toxin	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity								all cancers(182;0.13)|Epithelial(162;0.137)	Aminoglutethimide(DB00357)|Bezafibrate(DB01393)|Cholestyramine(DB01432)|Moexipril(DB00691)	CTGTGCAAATCCTTCTAAGCT	0.562000														31			6		0	0	0.00198382	0	0
DDX4	54514	broad.mit.edu	37	5	55111156	55111156	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:55111156C>T	uc003jqg.4	+	20	2101	c.2002C>T	c.(2002-2004)Cct>Tct	p.P668S	DDX4_uc010ivz.3_Missense_Mutation_p.P648S|DDX4_uc003jqh.4_Missense_Mutation_p.P634S|DDX4_uc003jqj.3_Missense_Mutation_p.P519S	NM_024415	NP_077726	Q9NQI0	DDX4_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 4 (DDX4), transcript variant 1, mRNA.	668	Helicase C-terminal.				multicellular organismal development|sperm motility	perinuclear region of cytoplasm|pi-body|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)				ACAGGATGTTCCTGCATGGTT	0.343000														47			28		0	0	0.000878237	0	0
TRBV5-5	28610	broad.mit.edu	37	7	142149099	142149099	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:142149099G>A	uc010lnw.1	-	1	254	c.172C>T	c.(172-174)Ctg>Ttg	p.L58L	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|TRBV5-5_uc022anh.1_5'Flank					SubName: Full=V_segment translation product; Flags: Fragment;																		CCCTGACCCAGGACCTGTTGG	0.498000														43			17		0	0	0.00074312	0	0
ABCA4	24	broad.mit.edu	37	1	94526287	94526287	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:94526287G>A	uc001dqh.3	-	13	2070	c.1966C>T	c.(1966-1968)Cct>Tct	p.P656S	ABCA4_uc010otn.1_Missense_Mutation_p.P656S	NM_000350	NP_000341	P78363	ABCA4_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 4 (ABCA4), mRNA.	656					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)		ATGAAGATAGGGAAACAGCGG	0.443000														17			15		0	0	0.00244969	0	0
HAO2	51179	broad.mit.edu	37	1	119927482	119927482	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:119927482G>A	uc001ehr.1	+	3	499	c.367G>A	c.(367-369)Ggc>Agc	p.G123S	HAO2_uc001ehq.1_Missense_Mutation_p.G123S	NM_016527	NP_057611	Q9NYQ3	HAOX2_HUMAN	Homo sapiens hydroxyacid oxidase 2 (long chain) (HAO2), transcript variant 1, mRNA.	123	FMN hydroxy acid dehydrogenase.				fatty acid alpha-oxidation	peroxisome	(S)-2-hydroxy-acid oxidase activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.0155)|LUSC - Lung squamous cell carcinoma(189;0.0856)		AGCTCCCGAAGGCCTCCGATG	0.493000														104			26		0	0	0.00332997	0	0
ESYT1	23344	broad.mit.edu	37	12	56527604	56527604	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:56527604C>T	uc001sjr.3	+	12	1538	c.1420C>T	c.(1420-1422)Ccc>Tcc	p.P474S	ESYT1_uc001sjq.3_Missense_Mutation_p.P474S	NM_001184796	NP_001171725	Q9BSJ8	ESYT1_HUMAN	Homo sapiens extended synaptotagmin-like protein 1 (ESYT1), transcript variant 1, mRNA.	474	C2 2.					integral to membrane				breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						TCGACCAGATCCCCCGTCAGC	0.562000														60			32		0	0	0.00128727	0	0
TFCP2L1	29842	broad.mit.edu	37	2	121989507	121989507	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:121989507C>T	uc002tmx.3	-	12	1329	c.1236G>A	c.(1234-1236)ttG>ttA	p.L412L	TFCP2L1_uc010flr.3_Intron|TFCP2L1_uc010flq.3_Intron	NM_014553	NP_055368	Q9NZI6	TF2L1_HUMAN	Homo sapiens transcription factor CP2-like 1 (TFCP2L1), mRNA.	412					female pregnancy|steroid biosynthetic process	mitochondrion|nucleolus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)|pancreas(2)|skin(1)|stomach(1)	22	Renal(3;0.01)					CAATCAGCTCCAAGGTGGTCA	0.592000														54			22		0	0	0.00106085	0	0
abParts	0	broad.mit.edu	37	14	106653437	106653437	+	RNA	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr14:106653437C>T	uc021ser.1	-	1433		c.28782G>A								Parts of antibodies, mostly variable regions.																		ACAGGAAGTTCCTGGAATTGT	0.522000														41			45		0	0	0.00361006	0	0
ASNS	440	broad.mit.edu	37	7	97498279	97498279	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:97498279C>T	uc003uot.4	-	2	696	c.190G>A	c.(190-192)Gtg>Atg	p.V64M	ASNS_uc011kin.2_Intron|ASNS_uc011kio.2_Missense_Mutation_p.V43M|ASNS_uc003uou.4_Missense_Mutation_p.V64M|ASNS_uc003uov.4_Missense_Mutation_p.V64M|ASNS_uc003uox.4_Intron	NM_133436	NP_001171548	P08243	ASNS_HUMAN	Homo sapiens asparagine synthetase (glutamine-hydrolyzing) (ASNS), transcript variant 1, mRNA.	64	Glutamine amidotransferase type-2.				cellular response to glucose starvation|glutamine metabolic process|negative regulation of apoptosis|positive regulation of mitotic cell cycle	cytosol|soluble fraction	ATP binding|asparagine synthase (glutamine-hydrolyzing) activity			ovary(1)	1	all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369)				Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	TATTTCTTCACTCGAATTGGC	0.433000														30			15		0	0	0.00074312	0	0
SUGP2	10147	broad.mit.edu	37	19	19135663	19135663	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:19135663G>A	uc002nkz.1	-	2	1556	c.1536C>T	c.(1534-1536)atC>atT	p.I512I	SUGP2_uc002nkx.2_Silent_p.I498I|SUGP2_uc002nla.1_Silent_p.I498I|SUGP2_uc002nlb.2_Silent_p.I498I|SUGP2_uc010xqk.1_Silent_p.I267I	NM_014884	NP_055699	Q8IX01	SUGP2_HUMAN	Homo sapiens SURP and G patch domain containing 2 (SUGP2), transcript variant 2, mRNA.	498					RNA splicing|mRNA processing	nucleus	RNA binding			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						CAGCTTCTAAGATTTTCTCCT	0.507000														93			37		0	0	0.00111076	0	0
PRKCI	5584	broad.mit.edu	37	3	170013699	170013699	+	Splice_Site	SNP	T	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:170013699T>A	uc003fgs.2	+	15	1656	c.1418_splice	c.e15-1	p.V473_splice	PRKCI_uc003fgt.2_Splice_Site_p.V28_splice	NM_002740	NP_002731	P41743	KPCI_HUMAN	Homo sapiens protein kinase C, iota (PRKCI), mRNA.	473	Protein kinase.				anti-apoptosis|cellular membrane organization|cellular response to insulin stimulus|establishment or maintenance of epithelial cell apical/basal polarity|intracellular signal transduction|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|protein targeting to membrane|secretion|tight junction assembly|vesicle-mediated transport	cytosol|endosome|nucleus|polarisome	ATP binding|phospholipid binding|protein binding|protein kinase C activity|zinc ion binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	36	all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			ATCTTTCTAGTTATTTTGGAA	0.303000														48			16		0	0	0.000566183	0	0
COL5A1	1289	broad.mit.edu	37	9	137717651	137717651	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr9:137717651C>T	uc004cfe.3	+	62	5350	c.4968C>T	c.(4966-4968)gtC>gtT	p.V1656V	BC058547_uc004cff.3_Intron	NM_000093	NP_000084	P20908	CO5A1_HUMAN	Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA.	1656	Fibrillar collagen NC1.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	p.V1656A(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		AATACTGGGTCGATCCTAACC	0.557000														20			28		0	0	0.00127121	0	0
BANK1	55024	broad.mit.edu	37	4	102751320	102751320	+	Silent	SNP	A	G	G			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr4:102751320A>G	uc003hvy.4	+	1	700	c.426A>G	c.(424-426)gaA>gaG	p.E142E	BANK1_uc003hvx.4_Silent_p.E127E|BANK1_uc010ill.3_Intron|BANK1_uc003hvz.4_Silent_p.E112E	NM_017935	NP_001077376	Q8NDB2	BANK1_HUMAN	Homo sapiens B-cell scaffold protein with ankyrin repeats 1 (BANK1), transcript variant 1, mRNA.	142	Interaction with ITPR2.				B cell activation			p.Q141P(1)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1)	44		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)		CTGAACAGGAACCTGAAGACT	0.328000														45			16		0	0	0.000566183	0	0
ACSS3	79611	broad.mit.edu	37	12	81503382	81503382	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:81503382C>T	uc001szl.1	+	1	446	c.355C>T	c.(355-357)Cgt>Tgt	p.R119C	ACSS3_uc001szm.1_Missense_Mutation_p.R118C	NM_024560	NP_078836	Q9H6R3	ACSS3_HUMAN	Homo sapiens acyl-CoA synthetase short-chain family member 3 (ACSS3), mRNA.	119						mitochondrion	ATP binding|acetate-CoA ligase activity	p.R119C(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						TGCCGTTGATCGTCATATTGA	0.338000														46			22		0	0	0.00229938	0	0
ABCA13	154664	broad.mit.edu	37	7	48313737	48313737	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:48313737C>T	uc003toq.2	+	16	4498	c.4474C>T	c.(4474-4476)Ctt>Ttt	p.L1492F	ABCA13_uc010kyr.2_Missense_Mutation_p.L995F|ABCA13_uc022acp.1_5'UTR	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	1492					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TTTATTAGCTCTTTTAAATGA	0.289000														16			10		0	0	0.000673444	0	0
FAM131C	348487	broad.mit.edu	37	1	16386022	16386022	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:16386022C>G	uc001axz.4	-	5	719	c.529G>C	c.(529-531)Gag>Cag	p.E177Q		NM_182623	NP_872429	Q96AQ9	F131C_HUMAN	Homo sapiens family with sequence similarity 131, member C (FAM131C), mRNA.	177										large_intestine(2)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	8		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.32e-08)|COAD - Colon adenocarcinoma(227;5.56e-06)|BRCA - Breast invasive adenocarcinoma(304;9.12e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00656)|READ - Rectum adenocarcinoma(331;0.0649)		GGGCTGTTCTCGGGGTGCAGC	0.652000														14			5		0	0	0.000274275	0	0
ABCF3	55324	broad.mit.edu	37	3	183910650	183910650	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:183910650C>T	uc003fmz.2	+	17	1849	c.1716C>T	c.(1714-1716)gtC>gtT	p.V572V	ABCF3_uc003fna.2_Silent_p.V566V|ABCF3_uc003fnb.2_Silent_p.V253V	NM_018358	NP_060828	Q9NUQ8	ABCF3_HUMAN	Homo sapiens ATP-binding cassette, sub-family F (GCN20), member 3 (ABCF3), mRNA.	572	ABC transporter 2.						ATP binding|ATPase activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(20)|ovary(3)|prostate(5)|upper_aerodigestive_tract(1)	39	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			ACCTAAACGTCAGTGCTGTGG	0.542000														49			7		0	0	0.00307968	0	0
KAT6B	23522	broad.mit.edu	37	10	76790158	76790158	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr10:76790158T>A	uc001jwn.1	+	17	6069	c.5576T>A	c.(5575-5577)gTt>gAt	p.V1859D	KAT6B_uc001jwo.1_Missense_Mutation_p.V1567D|KAT6B_uc001jwp.1_Missense_Mutation_p.V1676D	NM_012330	NP_036462	Q8WYB5	MYST4_HUMAN	Homo sapiens K(lysine) acetyltransferase 6B (KAT6B), mRNA.	1859	Interaction with RUNX1 and RUNX2.				histone H3 acetylation|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 factor binding|zinc ion binding										ACAGGGCTTGTTCAACTTTCT	0.517000														37			37		0	0	0.00222228	0	0
SLC26A7	115111	broad.mit.edu	37	8	92352659	92352659	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr8:92352659G>A	uc003yez.3	+	7	1145	c.906G>A	c.(904-906)atG>atA	p.M302I	SLC26A7_uc003yex.3_Missense_Mutation_p.M302I|SLC26A7_uc003yey.3_Non-coding_Transcript|SLC26A7_uc003yfa.3_Missense_Mutation_p.M302I	NM_134266	NP_599028	Q8TE54	S26A7_HUMAN	Homo sapiens solute carrier family 26, member 7 (SLC26A7), transcript variant 2, mRNA.	302						basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity	p.P301P(1)		breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			CTCCCCCGATGAACATCCTCT	0.438000														68			29		0	0	0.00283554	0	0
BRSK1	84446	broad.mit.edu	37	19	55817700	55817700	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:55817700C>T	uc002qkf.3	+	18	2146	c.2019C>T	c.(2017-2019)ttC>ttT	p.F673F	BRSK1_uc002qkg.3_Silent_p.F657F|BRSK1_uc002qkh.3_Silent_p.F352F|Mir_324_uc021vbu.1_5'Flank	NM_032430	NP_115806	Q8TDC3	BRSK1_HUMAN	Homo sapiens BR serine/threonine kinase 1 (BRSK1), mRNA.	657					G2/M transition DNA damage checkpoint|establishment of cell polarity|neuron differentiation|response to UV	cell junction|cytoplasm|nucleus	magnesium ion binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)		CCTCCGTCTTCCAAAAGCCCG	0.637000														34			12		0	0	0.00244969	0	0
TTYH2	94015	broad.mit.edu	37	17	72249964	72249964	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr17:72249964C>T	uc002jkc.3	+	12	1547	c.1516C>T	c.(1516-1518)Ccg>Tcg	p.P506S	TTYH2_uc010wqw.2_Missense_Mutation_p.P485S|TTYH2_uc002jkd.3_Missense_Mutation_p.P185S	NM_032646	NP_116035	Q9BSA4	TTYH2_HUMAN	Homo sapiens tweety homolog 2 (Drosophila) (TTYH2), transcript variant 1, mRNA.	506						chloride channel complex|plasma membrane	chloride channel activity|protein binding	p.P505H(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(14)|ovary(3)|pancreas(1)|stomach(3)|upper_aerodigestive_tract(1)	36						AGCCTCCCCTCCGCCTACGGT	0.552000														41			38		0	0	0.00428921	0	0
SLCO1C1	53919	broad.mit.edu	37	12	20903710	20903710	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:20903710G>A	uc010sii.2	+	14	2255	c.1900G>A	c.(1900-1902)Gat>Aat	p.D634N	SLCO1C1_uc010sij.2_Missense_Mutation_p.D585N|SLCO1C1_uc009zip.3_Missense_Mutation_p.D468N|SLCO1C1_uc001rei.3_Missense_Mutation_p.D634N|SLCO1C1_uc010sik.2_Missense_Mutation_p.D516N	NM_001145946	NP_001139416	Q9NYB5	SO1C1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1C1 (SLCO1C1), transcript variant 1, mRNA.	634					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)					CAGATTATATGATTCAAATGT	0.393000														43			18		0	0	0.000566183	0	0
VIPR2	7434	broad.mit.edu	37	7	158829505	158829505	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:158829505G>A	uc003woh.3	-	6	872	c.686C>T	c.(685-687)aCc>aTc	p.T229I	VIPR2_uc010lqx.3_Non-coding_Transcript|VIPR2_uc010lqy.3_Non-coding_Transcript	NM_003382	NP_003373	P41587	VIPR2_HUMAN	Homo sapiens vasoactive intestinal peptide receptor 2 (VIPR2), mRNA.	229					cell-cell signaling	integral to plasma membrane				central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22	Ovarian(565;0.152)	all_cancers(7;1.13e-11)|all_epithelial(9;0.000545)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)|STAD - Stomach adenocarcinoma(7;0.18)		CACCAGGAGGGTGTGGAGGTA	0.612000														14			8		0	0	0.00307968	0	0
ATP13A4	84239	broad.mit.edu	37	3	193210763	193210763	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:193210763G>A	uc003ftd.3	-	4	584	c.476C>T	c.(475-477)tCt>tTt	p.S159F	ATP13A4_uc003fte.1_Missense_Mutation_p.S159F|ATP13A4_uc011bsr.1_5'UTR	NM_032279	NP_115655	Q4VNC1	AT134_HUMAN	Homo sapiens ATPase type 13A4 (ATP13A4), mRNA.	159					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			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)		TATCTTGGCAGAACTAAGCCA	0.308000														37			13		0	0	0.00244969	0	0
COL4A5	1287	broad.mit.edu	37	X	107865086	107865086	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chrX:107865086G>A	uc022ccg.1	+	31	2933	c.2731G>A	c.(2731-2733)Gga>Aga	p.G911R	COL4A5_uc004enz.1_Missense_Mutation_p.G911R|COL4A5_uc004eob.1_Missense_Mutation_p.G519R	NM_033380	NP_203699	P29400	CO4A5_HUMAN	Homo sapiens collagen, type IV, alpha 5 (COL4A5), transcript variant 2, mRNA.	911	Triple-helical region.		G -> E (in APSX).		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						AGGACCTTTGGGAATTCCTGG	0.428000									Alport syndrome with Diffuse Leiomyomatosis					10			22		0	0	0.00188189	0	0
ZNF831	128611	broad.mit.edu	37	20	57782012	57782012	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr20:57782012C>T	uc002yan.3	+	2	3928	c.3928C>T	c.(3928-3930)Cgc>Tgc	p.R1310C		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	Homo sapiens zinc finger protein 831 (ZNF831), mRNA.	1310						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CAGTAGACTTCGCACACCAAC	0.547000														85			39		0	0	0.00128727	0	0
ADAMTS6	11174	broad.mit.edu	37	5	64587248	64587248	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:64587248G>A	uc003jtp.3	-	10	2234	c.1420C>T	c.(1420-1422)Ctt>Ttt	p.L474F	ADAMTS6_uc003jto.3_Non-coding_Transcript|ADAMTS6_uc003jtq.3_Non-coding_Transcript|ADAMTS6_uc003jtr.1_Missense_Mutation_p.L95F	NM_197941	NP_922932	Q9UKP5	ATS6_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 6 (ADAMTS6), mRNA.	474					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3)	18		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)		GCTGGATAAAGAAAGTCACGC	0.453000														57			14		0	0	0.00316338	0	0
C9orf153	389766	broad.mit.edu	37	9	88844513	88844513	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr9:88844513G>A	uc004aoo.3	-	1	87	c.6C>T	c.(4-6)ttC>ttT	p.F2F	GOLM1_uc010mqd.1_Intron|C9orf153_uc004aon.3_Silent_p.F2F	NM_001010907	NP_001010907	Q5TBE3	CI153_HUMAN	Homo sapiens chromosome 9 open reading frame 153 (C9orf153), mRNA.	2										breast(1)|lung(1)	2						CTCCAGTGAGGAACATCGTGC	0.398000														41			16		0	0	0.000958276	0	0
RGL2	5863	broad.mit.edu	37	6	33260299	33260299	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:33260299G>A	uc003odv.3	-	16	2590	c.2030C>T	c.(2029-2031)cCa>cTa	p.P677L	WDR46_uc011dra.2_5'Flank|WDR46_uc003ods.3_5'Flank|RGL2_uc003odu.3_Missense_Mutation_p.P237L|RGL2_uc010jur.3_Missense_Mutation_p.P237L|RGL2_uc003odw.3_Missense_Mutation_p.P595L	NM_004761	NP_001230667	O15211	RGL2_HUMAN	Homo sapiens ral guanine nucleotide dissociation stimulator-like 2 (RGL2), transcript variant 1, mRNA.	677	Ras-associating.				Ras protein signal transduction|regulation of small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity			breast(2)|cervix(2)|endometrium(7)|kidney(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	34						GATGACACTTGGAGCCTTGTC	0.517000														88			36		0	0	0.00148497	0	0
NPY1R	4886	broad.mit.edu	37	4	164247476	164247476	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr4:164247476G>A	uc003iqm.2	-	1	696	c.231C>T	c.(229-231)atC>atT	p.I77I	NPY1R_uc021xtv.1_Silent_p.I77I|NPY1R_uc011cjj.2_Intron	NM_000909	NP_000900	P25929	NPY1R_HUMAN	Homo sapiens neuropeptide Y receptor Y1 (NPY1R), mRNA.	77					inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis	integral to plasma membrane	protein binding			breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)	30	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				TCACAATCAGGATGTTGGTAA	0.428000														41			10		0	0	0.000442599	0	0
DSP	1832	broad.mit.edu	37	6	7569517	7569517	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:7569517C>T	uc003mxp.1	+	11	1797	c.1518C>T	c.(1516-1518)ccC>ccT	p.P506P	DSP_uc003mxq.1_Silent_p.P506P|DSP_uc021yle.1_Silent_p.P506P	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	506	Globular 1.|Interacts with plakophilin 1 and junction plakoglobin.				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)		TGCTTGTTCCCTCTGTGGGGC	0.557000														76			22		0	0	0.00152264	0	0
MRGPRX4	117196	broad.mit.edu	37	11	18194976	18194976	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:18194976G>A	uc001mnv.1	+	0	593	c.173G>A	c.(172-174)aGg>aAg	p.R58K		NM_054032	NP_473373	Q96LA9	MRGX4_HUMAN	Homo sapiens MAS-related GPR, member X4 (MRGPRX4), mRNA.	58						integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						CGCATGCGCAGGAACGCTGTC	0.542000														47			18		0	0	0.00121646	0	0
FAM105A	54491	broad.mit.edu	37	5	14607499	14607499	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:14607499C>T	uc003jfj.3	+	5	672	c.559C>T	c.(559-561)Cct>Tct	p.P187S		NM_019018	NP_061891	Q9NUU6	F105A_HUMAN	Homo sapiens family with sequence similarity 105, member A (FAM105A), mRNA.	187										large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	Lung NSC(4;0.00592)					CAGTTTTGGTCCTGAGAAGTA	0.378000														51			20		0	0	0.00229938	0	0
ARHGEF19	128272	broad.mit.edu	37	1	16528960	16528960	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:16528960G>A	uc001ayc.1	-	12	2154	c.2017C>T	c.(2017-2019)Ctc>Ttc	p.L673F	ARHGEF19_uc009voo.1_Missense_Mutation_p.L26F	NM_153213	NP_694945	Q8IW93	ARHGJ_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 19 (ARHGEF19), mRNA.	673	PH.				regulation of actin cytoskeleton organization	intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)		TGCCCGTGGAGGAGCTGGAGG	0.647000														11			4		0	0	0.00024832	0	0
VIL1	7429	broad.mit.edu	37	2	219294026	219294026	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:219294026G>A	uc002vib.3	+	5	608	c.586G>A	c.(586-588)Gag>Aag	p.E196K	VIL1_uc010zke.2_Intron|VIL1_uc002via.3_Missense_Mutation_p.E196K|VIL1_uc002vic.1_Missense_Mutation_p.E196K	NM_007127	NP_009058	P09327	VILI_HUMAN	Homo sapiens villin 1 (VIL1), mRNA.	196	Core.				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCTGGCCAAGGAGATCCGAGA	0.617000														37			15		0	0	0.000566183	0	0
TRIOBP	11078	broad.mit.edu	37	22	38121510	38121510	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr22:38121510C>T	uc003atr.3	+	6	3218	c.2947C>T	c.(2947-2949)Cca>Tca	p.P983S	TRIOBP_uc003atu.3_Missense_Mutation_p.P811S|TRIOBP_uc003atq.1_Missense_Mutation_p.P983S|TRIOBP_uc003ats.1_Missense_Mutation_p.P811S	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN	Homo sapiens TRIO and F-actin binding protein (TRIOBP), transcript variant 6, mRNA.	983					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	GTP-Rho binding|actin binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					CTCCCATAACCCAGGCCACCA	0.642000														87			37		0	0	0.00128727	0	0
KPRP	448834	broad.mit.edu	37	1	152733053	152733053	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:152733053C>T	uc001fal.1	+	1	1047	c.989C>T	c.(988-990)tCc>tTc	p.S330F	KPRP_uc021ozf.1_Missense_Mutation_p.S330F	NM_001025231	NP_001020402	Q5T749	KPRP_HUMAN	Homo sapiens keratinocyte proline-rich protein (KPRP), mRNA.	330	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)			ATCGAGATTTCCTCCCCGTGC	0.632000														29			5		0	0	0.000602214	0	0
UNC13A	23025	broad.mit.edu	37	19	17741529	17741529	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:17741529C>T	uc021uqk.1	-	28	3498	c.3456G>A	c.(3454-3456)ctG>ctA	p.L1152L		NM_001080421	NP_001073890	Q9UPW8	UN13A_HUMAN	Homo sapiens unc-13 homolog A (C. elegans) (UNC13A), mRNA.	1153	MHD1.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	p.K1151N(1)		breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						CATTCTCATCCAGCCACTGGA	0.582000														35			20		0	0	0.00332997	0	0
THSD7B	80731	broad.mit.edu	37	2	138163223	138163223	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:138163223G>A	uc002tva.1	+	11	2448	c.2448G>A	c.(2446-2448)atG>atA	p.M816I	THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.3_Missense_Mutation_p.M706I	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)		CAGCAGAAATGATGGAATGCC	0.438000														35			15		0	0	0.00152264	0	0
HSP90AB3P	3327	broad.mit.edu	37	4	88813042	88813042	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr4:88813042C>T	uc010iko.1	+	0	48	c.48C>T	c.(46-48)gcC>gcT	p.A16A						Homo sapiens heat shock protein 90kDa alpha (cytosolic), class B member 3, pseudogene (HSP90AB3P), non-coding RNA.																		AGACTTTTGCCTTTCAGGCAG	0.453000														42			20		0	0	0.00278032	0	0
SPOCK3	50859	broad.mit.edu	37	4	167656152	167656152	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr4:167656152C>T	uc011cjq.1	-	9	1315	c.1258G>A	c.(1258-1260)Gat>Aat	p.D420N	SPOCK3_uc021xuf.1_Missense_Mutation_p.D411N|SPOCK3_uc011cjr.1_Missense_Mutation_p.D291N|SPOCK3_uc003iri.1_Missense_Mutation_p.D411N|SPOCK3_uc011cjs.1_Missense_Mutation_p.D360N|SPOCK3_uc003irj.1_Missense_Mutation_p.D408N|SPOCK3_uc011cjt.1_Missense_Mutation_p.D319N|SPOCK3_uc011cjp.2_Missense_Mutation_p.D368N|SPOCK3_uc011cju.1_Missense_Mutation_p.D315N|SPOCK3_uc011cjv.1_Missense_Mutation_p.D313N	NM_001204353	NP_001191282	Q9BQ16	TICN3_HUMAN	Homo sapiens sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3 (SPOCK3), transcript variant 4, mRNA.	411	Asp-rich.				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)		tcatcttcatcattcataata	0.358000														42			12		0	0	0.00136819	0	0
ADAM23	8745	broad.mit.edu	37	2	207414845	207414845	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:207414845G>A	uc002vbq.3	+	8	1117	c.894G>A	c.(892-894)atG>atA	p.M298I	ADAM23_uc010ziv.2_Non-coding_Transcript	NM_003812	NP_003803	O75077	ADA23_HUMAN	Homo sapiens ADAM metallopeptidase domain 23 (ADAM23), mRNA.	298					cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		TTGAAGAAATGAAATATTTGG	0.303000														43			16		0	0	0.000958276	0	0
COBL	23242	broad.mit.edu	37	7	51097132	51097132	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:51097132G>A	uc003tps.3	-	10	2017	c.1832C>T	c.(1831-1833)tCg>tTg	p.S611L	COBL_uc003tpr.4_Missense_Mutation_p.S554L|COBL_uc011kcl.2_Missense_Mutation_p.S554L|COBL_uc003tpp.4_Missense_Mutation_p.S340L|COBL_uc003tpq.4_Missense_Mutation_p.S495L|COBL_uc003tpo.4_Missense_Mutation_p.S96L	NM_015198	NP_056013	O75128	COBL_HUMAN	Homo sapiens cordon-bleu homolog (mouse) (COBL), mRNA.	554										NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					AAACAACCCCGAATCCACAGG	0.532000														17			14		0	0	0.00316338	0	0
CACNA1E	777	broad.mit.edu	37	1	181708310	181708310	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:181708310G>A	uc009wxt.3	+	24	3835	c.3640G>A	c.(3640-3642)Gat>Aat	p.D1214N	CACNA1E_uc001gow.3_Missense_Mutation_p.D1214N|CACNA1E_uc009wxs.3_Missense_Mutation_p.D1195N|CACNA1E_uc001gox.1_Missense_Mutation_p.D440N	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	1214					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GATCCTGCAGGATGGGTCCTA	0.498000														108			38		0	0	0.00148497	0	0
MYH4	4622	broad.mit.edu	37	17	10355326	10355326	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr17:10355326C>T	uc002gmn.3	-	26	3781	c.3670G>A	c.(3670-3672)Gaa>Aaa	p.E1224K	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	1224					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TCACTCTTTTCCTTCTCCAGC	0.498000														26			20		0	0	0.00152264	0	0
C3orf15	89876	broad.mit.edu	37	3	119466664	119466664	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:119466664C>T	uc003ede.4	+	15	2135	c.2058C>T	c.(2056-2058)acC>acT	p.T686T	C3orf15_uc010hqz.3_Silent_p.T624T|C3orf15_uc011bjd.2_Silent_p.T560T|C3orf15_uc011bje.2_Silent_p.T666T|C3orf15_uc003edg.4_Non-coding_Transcript|C3orf15_uc003edh.4_5'Flank	NM_033364	NP_203528	Q7Z4T9	AAT1_HUMAN	Homo sapiens chromosome 3 open reading frame 15 (C3orf15), mRNA.	522						mitochondrion	protein binding			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				GBM - Glioblastoma multiforme(114;0.186)		TTAGCCGAACCTATCTTCAGT	0.343000														26			18		0	0	0.00152264	0	0
TRPM2	7226	broad.mit.edu	37	21	45861640	45861640	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr21:45861640C>T	uc010gpt.1	+	32	4702	c.4602C>T	c.(4600-4602)ctC>ctT	p.L1534L	TRPM2_uc002zet.1_Silent_p.L1484L|TRPM2_uc002zeu.1_Silent_p.L1484L|TRPM2_uc021wjr.1_Non-coding_Transcript|TRPM2_uc002zew.1_Silent_p.L1484L|TRPM2_uc002zex.1_Silent_p.L1270L|TRPM2_uc002zey.1_Silent_p.L963L|TRPM2_uc011aff.1_Silent_p.L165L	NM_003307	NP_003298	O94759	TRPM2_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 2 (TRPM2), transcript variant 1, mRNA.	1484						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						GCATCCCACTCTATGCGAACC	0.642000														25			13		0	0	0.00316338	0	0
PDE1C	5137	broad.mit.edu	37	7	32109955	32109955	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:32109955T>A	uc003tcm.2	-	0	512	c.51A>T	c.(49-51)aaA>aaT	p.K17N	PDE1C_uc003tcn.1_Missense_Mutation_p.K17N|PDE1C_uc003tco.2_Intron|PDE1C_uc003tcr.3_Missense_Mutation_p.K17N|PDE1C_uc003tcs.3_Missense_Mutation_p.K17N	NM_001191057	NP_001177988	Q14123	PDE1C_HUMAN	Homo sapiens phosphodiesterase 1C, calmodulin-dependent 70kDa (PDE1C), transcript variant 2, mRNA.	17					activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			GTTGCAGGTATTTCAGAGAGT	0.507000														65			35		0	0	0.00148497	0	0
ACTL6B	51412	broad.mit.edu	37	7	100245157	100245157	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:100245157C>T	uc003uvy.3	-	8	777	c.670_splice	c.e8-1	p.E224_splice	ACTL6B_uc003uvz.3_Splice_Site	NM_016188	NP_057272	O94805	ACL6B_HUMAN	Homo sapiens actin-like 6B (ACTL6B), mRNA.	224					chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	SWI/SNF complex|nBAF complex	ATP binding|protein binding|structural constituent of cytoskeleton			endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(1)	13	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					GGACAGGCTCCTGTGGGGGCA	0.602000														28			14		0	0	0.00316338	0	0
SYT9	143425	broad.mit.edu	37	11	7324274	7324274	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:7324274C>G	uc001mfe.3	+	1	387	c.150C>G	c.(148-150)atC>atG	p.I50M	SYT9_uc001mfd.3_Non-coding_Transcript|SYT9_uc009yfi.3_Non-coding_Transcript	NM_175733	NP_783860	Q86SS6	SYT9_HUMAN	Homo sapiens synaptotagmin IX (SYT9), mRNA.	50						cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity	p.I50I(2)		NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		TTGCAGATATCTCAGTGAGCC	0.542000														59			19		0	0	0.00121646	0	0
OR5AC2	81050	broad.mit.edu	37	3	97806600	97806600	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:97806600C>T	uc011bgs.2	+	0	584	c.584C>T	c.(583-585)tCt>tTt	p.S195F		NM_054106	NP_473447	Q9NZP5	O5AC2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AC, member 2 (OR5AC2), mRNA.	195					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	28						AATGGTCCATCTATTAACGCA	0.303000														43			24		0	0	0.00278032	0	0
BCL2L11	10018	broad.mit.edu	37	2	111881398	111881399	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:111881398_111881399CC>TT	uc002tgv.1	+	1	364_365	c.76_77CC>TT	c.(76-78)ccc>TTc	p.P26F	BCL2L11_uc002tgt.1_Missense_Mutation_p.P26F|BCL2L11_uc021vmo.1_Missense_Mutation_p.P26F|BCL2L11_uc002tgu.1_Missense_Mutation_p.P26F|BCL2L11_uc002tgy.2_Missense_Mutation_p.P26F|BCL2L11_uc002thb.2_Missense_Mutation_p.P26F|BCL2L11_uc002tgx.2_Missense_Mutation_p.P26F|BCL2L11_uc021vmp.1_Missense_Mutation_p.P26F|BCL2L11_uc010fkd.2_Missense_Mutation_p.P26F|BCL2L11_uc002tgz.2_Missense_Mutation_p.P26F|BCL2L11_uc002thd.2_Missense_Mutation_p.P26F|BCL2L11_uc002tha.2_Missense_Mutation_p.P26F|BCL2L11_uc010fke.2_Missense_Mutation_p.P26F|BCL2L11_uc021vmq.1_Missense_Mutation_p.P26F|BCL2L11_uc002thc.2_Missense_Mutation_p.P26F|BCL2L11_uc021vmr.1_Missense_Mutation_p.P26F|BCL2L11_uc002tgw.2_Missense_Mutation_p.P26F|BCL2L11_uc021vms.1_Missense_Mutation_p.P26F	NM_138621	NP_619527	O43521	B2L11_HUMAN	Homo sapiens BCL2-like 11 (apoptosis facilitator) (BCL2L11), transcript variant 1, mRNA.	26					activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|nerve growth factor receptor signaling pathway|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria	cytosol|endomembrane system|mitochondrial outer membrane|plasma membrane	protein binding			endometrium(4)|large_intestine(3)|lung(2)|prostate(2)	11						GGAGAGGCCTCCCCAGCTCAGA	0.545000														42			7		0	0	6.4e-05	0	0
TTN	7273	broad.mit.edu	37	2	179594214	179594214	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:179594214C>T	uc021vsy.1	-	60	15162	c.14937G>A	c.(14935-14937)acG>acA	p.T4979T	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.T1640T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	5906	Ig-like 30.						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)			GAGGTGTTCCCGTAACTTCAC	0.448000														53			38		0	0	0.00428921	0	0
HNF1B	6928	broad.mit.edu	37	17	36099523	36099523	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr17:36099523G>A	uc002hok.4	-	1	673	c.452C>T	c.(451-453)tCc>tTc	p.S151F	HNF1B_uc010wdi.2_Missense_Mutation_p.S151F|HNF1B_uc021tvv.1_Missense_Mutation_p.S151F|HNF1B_uc021tvw.1_Missense_Mutation_p.S151F	NM_000458	NP_000449	P35680	HNF1B_HUMAN	Homo sapiens HNF1 homeobox B (HNF1B), transcript variant 1, mRNA.	151			S -> P (in RCAD).		endocrine pancreas development|genitalia development|kidney development|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric nephron tubule development|regulation of pronephros size	nucleus	DNA binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2)	28		Breast(25;0.00765)|Ovarian(249;0.15)	STAD - Stomach adenocarcinoma(1;0.0142)			GAGATGCTGGGAGAGGTGCGA	0.557000														376			329		0	0	0.00361006	0	0
MYO18B	84700	broad.mit.edu	37	22	26219577	26219577	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr22:26219577G>A	uc003abz.1	+	12	2877	c.2627G>A	c.(2626-2628)cGa>cAa	p.R876Q	MYO18B_uc003aca.1_Missense_Mutation_p.R757Q|MYO18B_uc010guy.1_Missense_Mutation_p.R757Q|MYO18B_uc010guz.1_Missense_Mutation_p.R757Q|MYO18B_uc011aka.1_Missense_Mutation_p.R30Q|MYO18B_uc011akb.1_Missense_Mutation_p.R389Q	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	876	Myosin head-like.					nucleus|sarcomere|unconventional myosin complex	ATP binding|actin binding|motor activity	p.R876*(1)		NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CACCACCTTCGACAGATCATC	0.577000														161			64		0	0	0.00361006	0	0
RIMS1	22999	broad.mit.edu	37	6	72889377	72889377	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:72889377G>A	uc003pga.3	+	4	648	c.571G>A	c.(571-573)Gga>Aga	p.G191R	RIMS1_uc011dyb.2_5'Flank|RIMS1_uc003pgc.3_5'Flank|RIMS1_uc003pgb.4_5'Flank	NM_014989	NP_055804	Q86UR5	RIMS1_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 1 (RIMS1), transcript variant 1, mRNA.	191					calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	Rab GTPase binding|metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				AAGTCAGGATGGAACCCTGAG	0.493000														36			13		0	0	0.00316338	0	0
LARP1	23367	broad.mit.edu	37	5	154174820	154174820	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:154174820C>T	uc003lvo.3	+	7	1111	c.1087C>T	c.(1087-1089)Ctt>Ttt	p.L363F	LARP1_uc021ygh.1_Missense_Mutation_p.L235F|LARP1_uc021ygi.1_Missense_Mutation_p.L440F|LARP1_uc010jie.1_Missense_Mutation_p.L235F	NM_015315	NP_056130	Q6PKG0	LARP1_HUMAN	Homo sapiens La ribonucleoprotein domain family, member 1 (LARP1), transcript variant 1, mRNA.	440							RNA binding|protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			ACCCATCACCCTTATTGCTTC	0.493000														41			13		0	0	0.00244969	0	0
TARS2	80222	broad.mit.edu	37	1	150471694	150471694	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:150471694C>T	uc001euq.3	+	12	1549	c.1542C>T	c.(1540-1542)gtC>gtT	p.V514V	TARS2_uc010pcd.1_Non-coding_Transcript|TARS2_uc001eur.3_Silent_p.V432V|TARS2_uc009wlt.3_Silent_p.V140V|TARS2_uc009wls.3_Silent_p.V384V	NM_025150	NP_079426	Q9BW92	SYTM_HUMAN	Homo sapiens threonyl-tRNA synthetase 2, mitochondrial (putative) (TARS2), nuclear gene encoding mitochondrial protein, mRNA.	514					threonyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|threonine-tRNA ligase activity			cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	35	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		L-Threonine(DB00156)	CTTCAAAGGTCCTTAAACAGG	0.483000														133			66		0	0	0.00361006	0	0
RBM11	54033	broad.mit.edu	37	21	15592007	15592007	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr21:15592007C>T	uc002yjo.4	+	1	262	c.220C>T	c.(220-222)Cgt>Tgt	p.R74C	RBM11_uc002yjn.4_5'UTR|RBM11_uc002yjp.4_Intron	NM_144770	NP_658983	P57052	RBM11_HUMAN	Homo sapiens RNA binding motif protein 11 (RBM11), mRNA.	74	RRM.						RNA binding|nucleotide binding			endometrium(3)|kidney(3)|lung(7)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16				Epithelial(23;0.000314)|COAD - Colon adenocarcinoma(22;0.00242)|Colorectal(24;0.0129)|Lung(58;0.141)		GAATGGAATTCGTTTATATGG	0.388000														30			9		0	0	0.000673444	0	0
WDR62	284403	broad.mit.edu	37	19	36575559	36575559	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:36575559C>T	uc002odd.2	+	11	1646	c.1555C>T	c.(1555-1557)Cac>Tac	p.H519Y	WDR62_uc002odc.2_Missense_Mutation_p.H519Y	NM_001083961	NP_001077430	O43379	WDR62_HUMAN	Homo sapiens WD repeat domain 62 (WDR62), transcript variant 1, mRNA.	519					cerebral cortex development	nucleus				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			TCCCAGGATCCACGAGCTGCA	0.607000														32			22		0	0	0.000720815	0	0
TNFAIP6	7130	broad.mit.edu	37	2	152226541	152226541	+	Silent	SNP	G	A	A	rs144393744	byFrequency	TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:152226541G>A	uc002txk.3	+	3	477	c.402G>A	c.(400-402)gaG>gaA	p.E134E	FW340097_uc021vqy.1_Intron|MIR4773-2_uc021vra.1_5'Flank	NM_007115	NP_009046	P98066	TSG6_HUMAN	Homo sapiens tumor necrosis factor, alpha-induced protein 6 (TNFAIP6), mRNA.	134					cell adhesion|cell-cell signaling|inflammatory response|signal transduction		hyaluronic acid binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.131)		CAGCAAAGGAGTGTGGTGGCG	0.358000														57			18		0	0	0.00152264	0	0
ZNF567	163081	broad.mit.edu	37	19	37210633	37210633	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:37210633C>T	uc010xtl.2	+	5	1229	c.1007C>T	c.(1006-1008)tCg>tTg	p.S336L	ZNF567_uc002oeo.1_Missense_Mutation_p.S336L|ZNF567_uc010xtk.1_Missense_Mutation_p.S336L|ZNF567_uc002oep.4_Missense_Mutation_p.S305L|ZNF567_uc002oeq.1_Missense_Mutation_p.S305L	NM_152603	NP_689816	Q8N184	ZN567_HUMAN	Homo sapiens zinc finger protein 567 (ZNF567), mRNA.	336					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S305L(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			GGGGAGAAATCGTATGAATGT	0.458000														28			10		0	0	0.000673444	0	0
ANO5	203859	broad.mit.edu	37	11	22283727	22283727	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:22283727C>T	uc001mqi.2	+	15	2000	c.1683C>T	c.(1681-1683)ttC>ttT	p.F561F	ANO5_uc001mqj.2_Silent_p.F560F	NM_213599	NP_998764	Q75V66	ANO5_HUMAN	Homo sapiens anoctamin 5 (ANO5), transcript variant 1, mRNA.	561						chloride channel complex|endoplasmic reticulum membrane	chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TGAAAATGTTCCTGTTTCAGT	0.323000														65			35		0	0	0.00111076	0	0
FAM24A	118670	broad.mit.edu	37	10	124671148	124671148	+	Splice_Site	SNP	G	A	A	rs34697731		TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr10:124671148G>A	uc001lgv.3	+	2	120	c.-1_splice	c.e2-1			NM_001029888	NP_001025059	A6NFZ4	FA24A_HUMAN	Homo sapiens family with sequence similarity 24, member A (FAM24A), mRNA.							extracellular region				large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	9		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.124)|COAD - Colon adenocarcinoma(40;0.141)		TTTCTCCTTAGGCATGGCAAA	0.507000														66			58		0	0	0.00361006	0	0
RELN	5649	broad.mit.edu	37	7	103197532	103197532	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:103197532C>T	uc022ajr.1	-	37	5849	c.5689G>A	c.(5689-5691)Gaa>Aaa	p.E1897K	RELN_uc022ajq.1_Missense_Mutation_p.E1897K|RELN_uc010liz.3_Missense_Mutation_p.E1897K	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	1897					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		AAGTAAAATTCATCCATCAGG	0.408000														45			19		0	0	0.00152264	0	0
TTN	7273	broad.mit.edu	37	2	179536836	179536836	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:179536836G>A	uc021vsy.1	-	149	31411	c.31186C>T	c.(31186-31188)Cat>Tat	p.H10396Y	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.H7057Y|TTN_uc010fre.1_Intron|TTN_uc010zfk.1_5'UTR	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	11323	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)			TCTACTTCATGAAACTCGCCT	0.343000														37			20		0	0	0.000958276	0	0
LCN9	392399	broad.mit.edu	37	9	138556091	138556092	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr9:138556091_138556092CC>TT	uc004cgk.1	+	1	180_181	c.180_181CC>TT	c.(178-183)gtccgg>gtTTgg	p.R61W		NM_001001676	NP_001001676	Q8WX39	LCN9_HUMAN	Homo sapiens lipocalin 9 (LCN9), mRNA.	61						extracellular region	pheromone binding|transporter activity	p.V60I(1)		kidney(1)|large_intestine(2)|lung(2)|urinary_tract(1)	6		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;3.43e-07)|Epithelial(140;1.97e-06)|all cancers(34;6.1e-05)		GGGTCTTCGTCCGGAATATTGA	0.470000														95			29		0	0	6.4e-05	0	0
OR2W1	26692	broad.mit.edu	37	6	29012694	29012694	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:29012694C>T	uc003nlw.2	-	0	259	c.259G>A	c.(259-261)Gga>Aga	p.G87R	LOC100129636_uc021ytq.1_Intron	NM_030903	NP_112165	Q9Y3N9	OR2W1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily W, member 1 (OR2W1), mRNA.	87					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G87*(2)		endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|skin(1)	23						TTATCAGGTCCCCACAAGTTG	0.438000														53			7		0	0	0.000274275	0	0
PCDH11X	27328	broad.mit.edu	37	X	91132680	91132680	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chrX:91132680C>T	uc004efk.2	+	1	2286	c.1441C>T	c.(1441-1443)Cct>Tct	p.P481S	PCDH11X_uc004efl.2_Missense_Mutation_p.P481S|PCDH11X_uc010nmv.2_Missense_Mutation_p.P481S|PCDH11X_uc004efm.2_Missense_Mutation_p.P481S|PCDH11X_uc004efn.2_Missense_Mutation_p.P481S|PCDH11X_uc004efo.2_Missense_Mutation_p.P481S|PCDH11X_uc004efh.2_Missense_Mutation_p.P481S|PCDH11X_uc004efj.1_Missense_Mutation_p.P481S	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN	Homo sapiens protocadherin 11 X-linked (PCDH11X), transcript variant c, mRNA.	481	Cadherin 5.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						GAATAACTCTCCTGGCATCCA	0.438000														19			23		0	0	0.00106085	0	0
FAM75A6	389730	broad.mit.edu	37	9	43626810	43626810	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr9:43626810G>A	uc011lrb.2	-	3	1906	c.1877C>T	c.(1876-1878)tCa>tTa	p.S626L		NM_001145196	NP_001138668	Q5VVP1	F75A6_HUMAN	Homo sapiens family with sequence similarity 75, member A6 (FAM75A6), mRNA.	626						integral to membrane				breast(2)|endometrium(3)|kidney(4)|lung(36)|prostate(4)|skin(2)|soft_tissue(1)|stomach(1)|urinary_tract(1)	54						TGTCCCTGGTGATTCGTCCCG	0.537000														43			14		0	0	0.000958276	0	0
MEF2D	4209	broad.mit.edu	37	1	156437976	156437976	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:156437976G>A	uc001fpc.3	-	10	1753	c.1363C>T	c.(1363-1365)Cct>Tct	p.P455S	MEF2D_uc001fpb.3_Missense_Mutation_p.P448S|MEF2D_uc001fpd.3_Missense_Mutation_p.P448S|MEF2D_uc009wsa.3_Non-coding_Transcript|MEF2D_uc001fpe.1_Missense_Mutation_p.P455S	NM_005920	NP_005911	Q14814	MEF2D_HUMAN	Homo sapiens myocyte enhancer factor 2D (MEF2D), mRNA.	455	Poly-Pro.				apoptosis|muscle organ development|nervous system development|positive regulation of transcription from RNA polymerase II promoter	nucleus	RNA polymerase II regulatory region sequence-specific DNA binding|activating transcription factor binding|histone deacetylase binding|sequence-specific DNA binding RNA polymerase II transcription factor activity			endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	15	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					ACAGCTGGAGGGGGAGGCGCA	0.687000														20			9		0	0	0.000442599	0	0
FPGT-TNNI3K	100526835	broad.mit.edu	37	1	74819696	74819696	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:74819696C>T	uc001dge.2	+	12	1430	c.1363C>T	c.(1363-1365)Cgc>Tgc	p.R455C	FPGT-TNNI3K_uc001dgc.2_Missense_Mutation_p.R455C|FPGT-TNNI3K_uc001dgd.3_Missense_Mutation_p.R455C|FPGT-TNNI3K_uc001dgf.2_Missense_Mutation_p.R354C	NM_001112808	NP_001106279	Q59H18	TNI3K_HUMAN	Homo sapiens FPGT-TNNI3K readthrough (FPGT-TNNI3K), transcript variant 1, mRNA.	354						cytoplasm|nucleus	ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding	p.R354C(1)									CGGTCACATTCGCCTGGTTCA	0.398000														46			57		0	0	0.00361006	0	0
ATP1A2	477	broad.mit.edu	37	1	160105045	160105045	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:160105045C>T	uc001fvc.3	+	14	2207	c.2075C>T	c.(2074-2076)cCc>cTc	p.P692L	ATP1A2_uc001fvb.2_Missense_Mutation_p.P692L|ATP1A2_uc001fvd.3_Missense_Mutation_p.P428L	NM_000702	NP_000693	P50993	AT1A2_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 2 polypeptide (ATP1A2), mRNA.	692					ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			CGAACGTCTCCCCAGCAGAAG	0.597000														45			21		0	0	0.00332997	0	0
ODZ3	55714	broad.mit.edu	37	4	183664419	183664419	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr4:183664419C>T	uc003ivd.1	+	17	3551	c.3476C>T	c.(3475-3477)tCc>tTc	p.S1159F	ODZ3_uc003ive.1_Missense_Mutation_p.S565F	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	1159					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)		CGCAGCATTTCCTGCCCCAGT	0.537000														20			14		0	0	0.00316338	0	0
PCDHB7	56129	broad.mit.edu	37	5	140553766	140553766	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:140553766C>T	uc003lit.3	+	0	1524	c.1350C>T	c.(1348-1350)gcC>gcT	p.A450A		NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	Homo sapiens protocadherin beta 7 (PCDHB7), mRNA.	450	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACGCTCCCGCCTTCACCCAAA	0.592000														96			53		0	0	0.00361006	0	0
ALDH2	217	broad.mit.edu	37	12	112229871	112229871	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:112229871C>T	uc001tst.3	+	7	898	c.802C>T	c.(802-804)Cgc>Tgc	p.R268C	ALDH2_uc010syi.2_Missense_Mutation_p.R221C	NM_000690	NP_000681	P05091	ALDH2_HUMAN	Homo sapiens aldehyde dehydrogenase 2 family (mitochondrial) (ALDH2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	268					carbohydrate metabolic process|ethanol oxidation|neurotransmitter biosynthetic process|xenobiotic metabolic process	mitochondrial matrix	aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity|electron carrier activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|stomach(1)	22					Disulfiram(DB00822)|Guanidine(DB00536)|NADH(DB00157)|Nitroglycerin(DB00727)	ACAGATTGGCCGCGTAATCCA	0.547000			T	HMGA2	leiomyoma									43			10		0	0	0.000442599	0	0
TG	7038	broad.mit.edu	37	8	134031881	134031881	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr8:134031881A>T	uc003ytw.3	+	38	6858	c.6817A>T	c.(6817-6819)Acg>Tcg	p.T2273S	TG_uc010mdw.3_Missense_Mutation_p.T1032S|TG_uc011ljb.2_Missense_Mutation_p.T642S|TG_uc011ljc.2_Missense_Mutation_p.T406S	NM_003235	NP_003226	P01266	THYG_HUMAN	Homo sapiens thyroglobulin (TG), mRNA.	2273					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CAGAACATCCACGTCTCCTGG	0.527000														33			20		0	0	0.00278032	0	0
MYL4	4635	broad.mit.edu	37	17	45286862	45286862	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr17:45286862C>T	uc002ilg.3	+	1	202	c.74C>T	c.(73-75)cCa>cTa	p.P25L	MYL4_uc002ilh.3_Missense_Mutation_p.P25L	NM_001002841	NP_002467	P12829	MYL4_HUMAN	Homo sapiens myosin, light chain 4, alkali; atrial, embryonic (MYL4), transcript variant 1, mRNA.	25					cardiac muscle contraction|muscle filament sliding|muscle organ development|positive regulation of ATPase activity|regulation of the force of heart contraction	A band|cytosol|muscle myosin complex	actin filament binding|actin monomer binding|calcium ion binding|myosin II heavy chain binding|structural constituent of muscle			endometrium(2)|large_intestine(1)|lung(4)|ovary(3)|prostate(1)	11						gcccctgcaccagcccctgcc	0.587000														40			38		0	0	0.00428921	0	0
ABHD15	116236	broad.mit.edu	37	17	27889904	27889904	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr17:27889904G>A	uc002hed.2	-	1	1140	c.1082C>T	c.(1081-1083)cCc>cTc	p.P361L		NM_198147	NP_937790	Q6UXT9	ABH15_HUMAN	Homo sapiens abhydrolase domain containing 15 (ABHD15), mRNA.	361						extracellular region	carboxylesterase activity			breast(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	10						TCCACACACGGGGTCGTCAGC	0.607000														45			13		0	0	0.00185496	0	0
EPHA6	285220	broad.mit.edu	37	3	96962974	96962974	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:96962974C>T	uc010how.1	+	4	1492	c.1449C>T	c.(1447-1449)atC>atT	p.I483I	EPHA6_uc003drp.1_Silent_p.I483I	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	Homo sapiens EPH receptor A6 (EPHA6), transcript variant 1, mRNA.	388	Fibronectin type-III 2.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						TCCGCTTCATCCCAAGACATA	0.443000														43			12		0	0	0.00185496	0	0
XIRP2	129446	broad.mit.edu	37	2	168103798	168103798	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:168103798C>T	uc002udx.3	+	8	5985	c.5896C>T	c.(5896-5898)Cag>Tag	p.Q1966*	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Nonsense_Mutation_p.Q1791*|XIRP2_uc010fpq.3_Nonsense_Mutation_p.Q1744*|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	1791					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AGATATTCATCAGGTTGCTGT	0.448000														36			17		0	0	0.000566183	0	0
PMEPA1	56937	broad.mit.edu	37	20	56227561	56227561	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr20:56227561G>A	uc002xyq.3	-	3	805	c.412C>T	c.(412-414)Ccg>Tcg	p.P138S	PMEPA1_uc002xyr.3_Missense_Mutation_p.P88S|PMEPA1_uc002xys.3_Missense_Mutation_p.P103S|PMEPA1_uc002xyt.3_Missense_Mutation_p.P88S	NM_020182	NP_954640	Q969W9	PMEPA_HUMAN	Homo sapiens prostate transmembrane protein, androgen induced 1 (PMEPA1), transcript variant 1, mRNA.	138					androgen receptor signaling pathway	integral to membrane|plasma membrane	WW domain binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)	16						TGCAGGTACGGATAGGTGGGC	0.716000														7			10		0	0	0.000978159	0	0
MIR548I1	100302204	broad.mit.edu	37	3	125509351	125509351	+	RNA	SNP	T	C	C			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:125509351T>C	uc021xdg.1	-	0		c.45A>G								Homo sapiens microRNA 548i-1 (MIR548I1), microRNA.																		aatccgcaattacttttgcac	0.413000														37			23		0	0	0.00395357	0	0
TAF2	6873	broad.mit.edu	37	8	120809338	120809338	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr8:120809338T>A	uc003you.3	-	7	1253	c.983A>T	c.(982-984)aAt>aTt	p.N328I		NM_003184	NP_003175	Q6P1X5	TAF2_HUMAN	Homo sapiens TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa (TAF2), mRNA.	328					G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor TFIID complex|transcription factor TFTC complex	metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			GTGTAAAAGATTTGTGCTGGA	0.328000														31			8		0	0	0.00307968	0	0
PREX2	80243	broad.mit.edu	37	8	69136817	69136817	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr8:69136817G>A	uc003xxv.1	+	38	4758	c.4731G>A	c.(4729-4731)gcG>gcA	p.A1577A		NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA.	1577					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity|protein binding	p.A1577V(1)		NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						AGAACACAGCGAAGAATTTGG	0.458000														36			10		0	0	0.000673444	0	0
PMFBP1	83449	broad.mit.edu	37	16	72163092	72163092	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr16:72163092T>A	uc002fcc.4	-	12	2010	c.1838A>T	c.(1837-1839)gAt>gTt	p.D613V	PMFBP1_uc002fcd.3_Missense_Mutation_p.D608V|PMFBP1_uc002fce.3_Intron|PMFBP1_uc002fcf.3_Missense_Mutation_p.D463V|PMFBP1_uc010cgo.1_5'Flank	NM_031293	NP_112583	Q8TBY8	PMFBP_HUMAN	Homo sapiens polyamine modulated factor 1 binding protein 1 (PMFBP1), transcript variant 1, mRNA.	613										NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				CTCCTGAAGATCTTCTTCTAA	0.443000														166			95		0	0	0.00361006	0	0
ARID4B	51742	broad.mit.edu	37	1	235377134	235377134	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:235377134G>A	uc021pks.1	-	16	2168	c.1791C>T	c.(1789-1791)gtC>gtT	p.V597V	ARID4B_uc001hwq.3_Silent_p.V597V|ARID4B_uc001hwr.3_Intron|ARID4B_uc001hws.4_Intron|ARID4B_uc001hwt.4_Silent_p.V278V	NM_001206794	NP_001193723	Q4LE39	ARI4B_HUMAN	Homo sapiens AT rich interactive domain 4B (RBP1-like) (ARID4B), transcript variant 3, mRNA.	597					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding	p.V597V(1)		NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			CTCCACCTTCGACATCAGAAT	0.383000														93			42		0	0	0.00285205	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140222032	140222032	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:140222032G>A	uc003lhs.2	+	0	1126	c.1126G>A	c.(1126-1128)Gac>Aac	p.D376N	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhr.1_Missense_Mutation_p.D376N	NM_018911	NP_061734	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 8 (PCDHA8), transcript variant 1, mRNA.	391	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TAGCGTGAACGACCTCGATTC	0.502000														92			53		0	0	0.00361006	0	0
OR3A1	4994	broad.mit.edu	37	17	3195490	3195490	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr17:3195490G>A	uc002fvh.1	-	0	387	c.387C>T	c.(385-387)atC>atT	p.I129I		NM_002550	NP_002541	P47881	OR3A1_HUMAN	Homo sapiens olfactory receptor, family 3, subfamily A, member 1 (OR3A1), mRNA.	129					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	20						GGGGCCGGCAGATGGCCAGGA	0.597000														27			22		0	0	0.00229938	0	0
ACSM2A	123876	broad.mit.edu	37	16	20477027	20477027	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr16:20477027G>A	uc010bwe.3	+	3	605	c.366G>A	c.(364-366)gtG>gtA	p.V122V	ACSM2A_uc010bwd.1_Non-coding_Transcript|ACSM2A_uc010vax.1_Silent_p.V43V|ACSM2A_uc002dhf.4_Silent_p.V122V|ACSM2A_uc002dhg.4_Silent_p.V122V|ACSM2A_uc010vay.2_Silent_p.V43V	NM_001010845	NP_001010845	Q08AH3	ACS2A_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 2A (ACSM2A), nuclear gene encoding mitochondrial protein, mRNA.	122					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						GGTGGCTGGTGATCCTGGGCT	0.587000														22			7		0	0	0.00198382	0	0
TTC21A	199223	broad.mit.edu	37	3	39172499	39172499	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:39172499C>T	uc003cjc.2	+	18	2673	c.2496C>T	c.(2494-2496)tcC>tcT	p.S832S	TTC21A_uc011ayx.1_Silent_p.S784S|TTC21A_uc003cjd.2_Non-coding_Transcript|TTC21A_uc011ayy.2_5'Flank|TTC21A_uc003cjf.2_5'Flank	NM_145755	NP_665698	Q8NDW8	TT21A_HUMAN	Homo sapiens tetratricopeptide repeat domain 21A (TTC21A), transcript variant 2, mRNA.	832							binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		ACATCCCATCCATGATGAATG	0.433000														23			23		0	0	0.000720815	0	0
FAM13C	220965	broad.mit.edu	37	10	61029827	61029827	+	Missense_Mutation	SNP	C	T	T	rs143474599	byFrequency	TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr10:61029827C>T	uc010qif.1	-	6	767	c.701G>A	c.(700-702)aGt>aAt	p.S234N	FAM13C_uc010qid.2_Missense_Mutation_p.S129N|FAM13C_uc001jkn.3_Missense_Mutation_p.S212N|FAM13C_uc001jko.3_Missense_Mutation_p.S212N|FAM13C_uc010qie.2_Missense_Mutation_p.S129N|FAM13C_uc001jkp.3_Missense_Mutation_p.S129N	NM_198215	NP_937858	Q8NE31	FA13C_HUMAN	Homo sapiens family with sequence similarity 13, member C (FAM13C), transcript variant 1, mRNA.	212										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						TTCTGGTGCACTGTCGGCCTC	0.532000														23			22		0	0	0.00127121	0	0
PURG	29942	broad.mit.edu	37	8	30889392	30889392	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr8:30889392G>A	uc003xin.3	-	0	926	c.907C>T	c.(907-909)Cca>Tca	p.P303S	WRN_uc003xio.4_5'Flank|PURG_uc003xim.1_Intron	NM_013357	NP_037489	Q9UJV8	PURG_HUMAN	Homo sapiens purine-rich element binding protein G (PURG), transcript variant A, mRNA.	303						nucleus	DNA binding			endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(542;0.0895)|Kidney(114;0.108)		GCTTTGAATGGAACAGTAATA	0.378000														16			10		0	0	0.000442599	0	0
F7	2155	broad.mit.edu	37	13	113771786	113771786	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr13:113771786G>A	uc001vsv.3	+	8	733	c.682_splice	c.e8-1	p.V228_splice	F7_uc001vsw.3_Splice_Site_p.V206_splice|F7_uc010tjt.2_Splice_Site_p.V159_splice	NM_000131	NP_000122	P08709	FA7_HUMAN	Homo sapiens coagulation factor VII (serum prothrombin conversion accelerator) (F7), transcript variant 1, mRNA.	228	Peptidase S1.				anti-apoptosis|blood coagulation, extrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of leukocyte chemotaxis|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of positive chemotaxis|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	Golgi lumen|endoplasmic reticulum lumen|plasma membrane	calcium ion binding|glycoprotein binding|serine-type endopeptidase activity			large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218)		Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170)	CCCCCGCCCAGGTCCTGTTGT	0.557000														41			19		0	0	0.00188189	0	0
DOK3	79930	broad.mit.edu	37	5	176931106	176931106	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:176931106G>A	uc003mhk.3	-	5	1374	c.1369C>T	c.(1369-1371)Ctg>Ttg	p.L457L	DOK3_uc003mhh.4_Intron|DOK3_uc003mhi.4_Intron|DOK3_uc003mhj.4_Intron	NM_024872	NP_079148	Q7L591	DOK3_HUMAN	Homo sapiens docking protein 3 (DOK3), transcript variant 1, mRNA.	457	Pro-rich.					cytoplasm|plasma membrane	insulin receptor binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|lung(7)	13	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)			TCCAGCTCCAGCAGCCGCCGG	0.677000														13			6		0	0	0.00116845	0	0
ITPR2	3709	broad.mit.edu	37	12	26811014	26811014	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:26811014G>A	uc001rhg.3	-	16	2353	c.1936C>T	c.(1936-1938)Cct>Tct	p.P646S		NM_002223	NP_002214	Q14571	ITPR2_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 2 (ITPR2), mRNA.	646					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)					TGAGTTACAGGGATAGCAGTG	0.338000														27			11		0	0	0.000978159	0	0
AGBL1	123624	broad.mit.edu	37	15	87531227	87531227	+	Silent	SNP	A	G	G			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr15:87531227A>G	uc002blz.1	+	22	3173	c.3093A>G	c.(3091-3093)tcA>tcG	p.S1031S		NM_152336	NP_689549	Q96MI9	CBPC4_HUMAN	Homo sapiens ATP/GTP binding protein-like 1 (AGBL1), mRNA.	1031					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						gattaaaatcatccaatttcc	0.318000														78			197		0	0	0.00361006	0	0
STRBP	55342	broad.mit.edu	37	9	125901814	125901814	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr9:125901814G>A	uc004bns.3	-	13	1933	c.1491C>T	c.(1489-1491)acC>acT	p.T497T	STRBP_uc004bnt.3_Silent_p.T315T|STRBP_uc004bnu.3_Silent_p.T483T|STRBP_uc004bnv.3_Silent_p.T497T	NM_018387	NP_001164608	Q96SI9	STRBP_HUMAN	Homo sapiens spermatid perinuclear RNA binding protein (STRBP), transcript variant 1, mRNA.	497					multicellular organismal development	cytoplasm|nucleus	DNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(6)|prostate(1)|skin(2)	26						ATACCTCTAAGGTACTGGAGG	0.289000														41			7		0	0	0.00307968	0	0
SALL1	6299	broad.mit.edu	37	16	51173577	51173577	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr16:51173577G>A	uc021tif.1	-	1	2587	c.2265C>T	c.(2263-2265)tcC>tcT	p.S755S	SALL1_uc021tid.1_Silent_p.S755S|SALL1_uc021tie.1_Silent_p.S852S|SALL1_uc010cbv.3_Intron	NM_001127892	NP_001121364	Q9NSC2	SALL1_HUMAN	Homo sapiens sal-like 1 (Drosophila) (SALL1), transcript variant 2, mRNA.	852					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)			AAGGCGAAGAGGATAAGCTGT	0.517000														65			10		0	0	0.000442599	0	0
EYA4	2070	broad.mit.edu	37	6	133827288	133827288	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:133827288G>A	uc011ecs.2	+	13	1570	c.1254G>A	c.(1252-1254)atG>atA	p.M418I	EYA4_uc011ecq.2_Missense_Mutation_p.M358I|EYA4_uc011ecr.2_Missense_Mutation_p.M364I|EYA4_uc003qec.4_Missense_Mutation_p.M412I|EYA4_uc003qed.4_Missense_Mutation_p.M412I|EYA4_uc003qee.4_Missense_Mutation_p.M389I|BC041459_uc003qef.1_Non-coding_Transcript|BC041459_uc003qeg.1_Non-coding_Transcript	NM_004100	NP_004091	O95677	EYA4_HUMAN	Homo sapiens eyes absent homolog 4 (Drosophila) (EYA4), transcript variant 1, mRNA.	412					DNA repair|anatomical structure morphogenesis|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		TGGAAGAAATGATTTTTAATC	0.353000														58			17		0	0	0.00121646	0	0
WASF3	10810	broad.mit.edu	37	13	27250709	27250709	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr13:27250709C>T	uc001uqv.3	+	6	789	c.564C>T	c.(562-564)acC>acT	p.T188T	WASF3_uc001uqw.3_Intron	NM_006646	NP_006637	Q9UPY6	WASF3_HUMAN	Homo sapiens WAS protein family, member 3 (WASF3), mRNA.	188					actin filament polymerization	cytoplasm|cytoskeleton	actin binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)		TAGATGGCACCACCCGTGAGG	0.463000														40			16		0	0	0.000566183	0	0
PLEKHG4	25894	broad.mit.edu	37	16	67322296	67322296	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr16:67322296C>T	uc010cef.3	+	19	3746	c.3447C>T	c.(3445-3447)ccC>ccT	p.P1149P	PLEKHG4_uc002eso.4_Silent_p.P1149P|PLEKHG4_uc002esp.4_Silent_p.P956P|PLEKHG4_uc002esq.4_Silent_p.P1149P|PLEKHG4_uc002ess.4_Silent_p.P1149P|PLEKHG4_uc010ceg.3_Silent_p.P1068P	NM_001129728	NP_056247	Q58EX7	PKHG4_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 4 (PLEKHG4), transcript variant 3, mRNA.	1149					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)		GCGGCCAGCCCTCTTTGAGTA	0.627000														20			11		0	0	0.000673444	0	0
ROBO4	54538	broad.mit.edu	37	11	124757690	124757690	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:124757690G>A	uc001qbg.3	-	12	2135	c.1995C>T	c.(1993-1995)tcC>tcT	p.S665S	ROBO4_uc010sas.2_Silent_p.S520S|ROBO4_uc001qbh.2_Silent_p.S555S|ROBO4_uc001qbi.3_Silent_p.S223S|ROBO4_uc010sat.1_Silent_p.S223S	NM_019055	NP_061928	Q8WZ75	ROBO4_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 4 (Drosophila) (ROBO4), mRNA.	665					angiogenesis|cell differentiation	integral to membrane	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		GGAGCTCCAAGGAGTGGCTGC	0.577000														18			13		0	0	0.00400662	0	0
OR51A7	119687	broad.mit.edu	37	11	4929511	4929511	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:4929511G>A	uc010qyq.2	+	0	912	c.912G>A	c.(910-912)ggG>ggA	p.G304G		NM_001004749	NP_001004749	Q8NH64	O51A7_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily A, member 7 (OR51A7), mRNA.	304					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(7)|lung(13)|ovary(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGATCTTGGGGAAGTTGCTTA	0.393000														41			15		0	0	0.00316338	0	0
ELTD1	64123	broad.mit.edu	37	1	79383582	79383582	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:79383582G>A	uc001diq.4	-	10	1771	c.1615C>T	c.(1615-1617)Cta>Tta	p.L539L		NM_022159	NP_071442	Q9HBW9	ELTD1_HUMAN	Homo sapiens EGF, latrophilin and seven transmembrane domain containing 1 (ELTD1), mRNA.	539					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding	p.Y538Y(1)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		GCTGGGCTTAGATAGCCAAAG	0.383000														109			106		0	0	0.00361006	0	0
CYP4F3	4051	broad.mit.edu	37	19	15752225	15752225	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:15752225G>A	uc010xok.2	+	2	50	c.0_splice	c.e2-1		CYP4F3_uc010xol.2_Splice_Site|CYP4F3_uc002nbj.3_Splice_Site|CYP4F3_uc010xom.2_Splice_Site|CYP4F3_uc002nbk.3_5'UTR	NM_001199208	NP_001186137	Q08477	CP4F3_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 3 (CYP4F3), transcript variant 2, mRNA.						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			endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						TGCCCTGCAGGATGCCACAGC	0.677000														32			19		0	0	0.00152264	0	0
SCAI	286205	broad.mit.edu	37	9	127828290	127828290	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr9:127828290C>T	uc004bpd.3	-	2	268	c.146G>A	c.(145-147)aGa>aAa	p.R49K	SCAI_uc004bpe.3_Intron|SCAI_uc010mwu.3_Intron	NM_173690	NP_775961	Q8N9R8	SCAI_HUMAN	Homo sapiens suppressor of cancer cell invasion (SCAI), transcript variant 1, mRNA.	32	Necessary to inhibit MKL1-induced SRF transcriptional activity (By similarity).				negative regulation of Rho protein signal transduction|negative regulation of cell migration|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|integral to membrane|nucleus	protein binding|transcription corepressor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(5)|stomach(1)|urinary_tract(1)	35						atgttgatatctttccccttg	0.294000														84			59		0	0	0.00361006	0	0
NAIF1	203245	broad.mit.edu	37	9	130828896	130828896	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr9:130828896G>A	uc004bta.3	-	0	704	c.485C>T	c.(484-486)gCc>gTc	p.A162V	SLC25A25_uc004btb.3_5'Flank	NM_197956	NP_931045	Q69YI7	NAIF1_HUMAN	Homo sapiens nuclear apoptosis inducing factor 1 (NAIF1), mRNA.	162					apoptosis|induction of apoptosis	nucleus				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						CGTGGCTGCGGCTGCGGTGGC	0.657000														20			20		0	0	0.00188189	0	0
CTSS	1520	broad.mit.edu	37	1	150722515	150722515	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:150722515C>T	uc001evn.3	-	5	1021	c.760G>A	c.(760-762)Gcg>Acg	p.A254T	CTSS_uc010pcj.2_Missense_Mutation_p.A204T	NM_004079	NP_004070	P25774	CATS_HUMAN	Homo sapiens cathepsin S (CTSS), transcript variant 1, mRNA.	254					immune response|proteolysis	extracellular region|lysosome	cysteine-type endopeptidase activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	15	all_cancers(9;6.17e-52)|all_epithelial(9;9.7e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.00146)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|Epithelial(6;5.02e-21)|all cancers(9;1.28e-20)|OV - Ovarian serous cystadenocarcinoma(6;1.09e-14)|BRCA - Breast invasive adenocarcinoma(12;0.00501)|LUSC - Lung squamous cell carcinoma(543;0.171)			GGATGACGCGCATCTACACCA	0.398000														26			11		0	0	0.00136819	0	0
MICALL1	85377	broad.mit.edu	37	22	38323579	38323579	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr22:38323579C>T	uc003aui.3	+	8	1902	c.1627C>T	c.(1627-1629)Cat>Tat	p.H543Y		NM_033386	NP_203744	Q8N3F8	MILK1_HUMAN	Homo sapiens MICAL-like 1 (MICALL1), mRNA.	543	Pro-rich.					cytoplasm|cytoskeleton	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	24	Melanoma(58;0.045)					GCCTGCTGTCCATGCCCCTGG	0.617000														60			32		0	0	0.0024448	0	0
MUC16	94025	broad.mit.edu	37	19	9088636	9088636	+	Missense_Mutation	SNP	C	T	T	rs148517753	by1000genomes	TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:9088636C>T	uc002mkp.3	-	0	3383	c.3179G>A	c.(3178-3180)gGa>gAa	p.G1060E		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	1060	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						AGCTGTGGTTCCAATGGGCAG	0.483000														67			44		0	0	0.00361006	0	0
ART3	419	broad.mit.edu	37	4	77003064	77003064	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr4:77003064C>T	uc003hjo.3	+	2	291	c.157C>T	c.(157-159)Ccc>Tcc	p.P53S	ART3_uc003hji.3_Missense_Mutation_p.P53S|ART3_uc003hjj.3_Missense_Mutation_p.P53S|ART3_uc003hjk.3_Missense_Mutation_p.P53S|ART3_uc010ija.2_Missense_Mutation_p.P53S|ART3_uc003hjn.3_Missense_Mutation_p.P53S|ART3_uc003hjp.3_Intron|ART3_uc010ijb.3_Intron|ART3_uc003hjq.3_Intron|ART3_uc003hjr.3_Missense_Mutation_p.P23S|ART3_uc010ijc.3_Missense_Mutation_p.P23S|ART3_uc010ijd.3_Missense_Mutation_p.P23S	NM_001130016	NP_001123488	Q13508	NAR3_HUMAN	Homo sapiens ADP-ribosyltransferase 3 (ART3), transcript variant 1, mRNA.	53					protein ADP-ribosylation	anchored to membrane|integral to plasma membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|stomach(1)	16			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			TAAATACGTTCCCCAACTGCT	0.413000														73			37		0	0	0.00428921	0	0
KRT6C	286887	broad.mit.edu	37	12	52864331	52864331	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:52864331C>T	uc001sal.4	-	5	1209	c.1161G>A	c.(1159-1161)atG>atA	p.M387I		NM_173086	NP_775109	P48668	K2C6C_HUMAN	Homo sapiens keratin 6C (KRT6C), mRNA.	387	Coil 2.|Rod.				cytoskeleton organization	keratin filament	structural molecule activity	p.R386C(1)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2)	23				BRCA - Breast invasive adenocarcinoma(357;0.0828)		GCCTCTGGATCATGCGGTTGA	0.547000														79			29		0	0	0.00127121	0	0
KRT13	3860	broad.mit.edu	37	17	39659251	39659251	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr17:39659251C>T	uc002hwu.1	-	3	898	c.835G>A	c.(835-837)Gag>Aag	p.E279K	KRT13_uc002hwv.1_Missense_Mutation_p.E279K|KRT13_uc010wfr.2_Missense_Mutation_p.E172K|KRT13_uc010cxo.3_Missense_Mutation_p.E279K|KRT13_uc021txk.1_Missense_Mutation_p.E172K	NM_153490	NP_705694	P13646	K1C13_HUMAN	Homo sapiens keratin 13 (KRT13), transcript variant 1, mRNA.	279	Coil 2.|Rod.				epidermis development	intermediate filament	structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	33		Breast(137;0.000286)				TCGTACTGCTCCCTCATCTCT	0.602000														134			104		0	0	0.00361006	0	0
DDX23	9416	broad.mit.edu	37	12	49237775	49237775	+	Silent	SNP	G	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:49237775G>T	uc001rsm.3	-	2	359	c.268C>A	c.(268-270)Cga>Aga	p.R90R		NM_004818	NP_004809	Q9BUQ8	DDX23_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 23 (DDX23), mRNA.	90	Arg-rich.					U5 snRNP|catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent RNA helicase activity|nucleic acid binding|protein binding	p.R90R(2)		NS(1)|cervix(1)|kidney(4)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(3)	36						TCTCGATCTCGGTCCTTCTTA	0.488000														218			7		2.17888e-05	6.83598e-05	0.000442599	1	0
HELQ	113510	broad.mit.edu	37	4	84339324	84339324	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr4:84339324C>A	uc003hom.3	-	15	3164	c.2985G>T	c.(2983-2985)ttG>ttT	p.L995F	HELQ_uc010ikb.3_Missense_Mutation_p.L928F|HELQ_uc003hol.4_Non-coding_Transcript|HELQ_uc010ikc.3_Non-coding_Transcript	NM_133636	NP_598375	Q8TDG4	HELQ_HUMAN	Homo sapiens helicase, POLQ-like (HELQ), mRNA.	995							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						TAAGTTCTACCAAAAGGGCTC	0.363000								Other identified genes with known or suspected DNA repair function						190			7		0.00198382	0.00617672	0.00198382	1	0
TCP11	6954	broad.mit.edu	37	6	35088283	35088283	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:35088283G>A	uc003okd.2	-	6	1076	c.895C>T	c.(895-897)Ctc>Ttc	p.L299F	TCP11_uc003ojz.1_Missense_Mutation_p.L224F|TCP11_uc003oka.2_Missense_Mutation_p.L224F|TCP11_uc003okb.2_Missense_Mutation_p.L223F|TCP11_uc011dsu.1_Missense_Mutation_p.L281F|TCP11_uc003okc.2_Missense_Mutation_p.L223F|TCP11_uc011dsv.1_Missense_Mutation_p.L248F|TCP11_uc011dsw.1_Missense_Mutation_p.L253F	NM_001093728	NP_001087197	Q8WWU5	TCP11_HUMAN	Homo sapiens t-complex 11 homolog (mouse) (TCP11), transcript variant 1, mRNA.	286					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				breast(1)|kidney(5)|large_intestine(3)|lung(10)|ovary(3)|prostate(1)|skin(4)	27						GTGGGGCTGAGGGGCTCTGGG	0.572000														80			35		0	0	0.00375469	0	0
FOLH1	2346	broad.mit.edu	37	11	49190808	49190808	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:49190808C>T	uc001ngy.3	-	11	1572	c.1311G>A	c.(1309-1311)gaG>gaA	p.E437E	FOLH1_uc009yly.3_Silent_p.E422E|FOLH1_uc009ylz.3_Silent_p.E422E|FOLH1_uc001ngz.3_Silent_p.E437E|FOLH1_uc009yma.3_Silent_p.E129E	NM_004476	NP_001180402	Q04609	FOLH1_HUMAN	Homo sapiens folate hydrolase (prostate-specific membrane antigen) 1 (FOLH1), transcript variant 1, mRNA.	437	NAALADase.				proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)|L-Glutamic Acid(DB00142)	GTCTTGAATTCTCCTATAATA	0.343000														36			15		0	0	0.000958276	0	0
SCN2A	6326	broad.mit.edu	37	2	166188051	166188051	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:166188051C>T	uc002udc.3	+	13	2651	c.2361C>T	c.(2359-2361)ttC>ttT	p.F787F	SCN2A_uc002udd.3_Silent_p.F787F|SCN2A_uc002ude.3_Silent_p.F787F	NM_001040142	NP_066287	Q99250	SCN2A_HUMAN	Homo sapiens sodium channel, voltage-gated, type II, alpha subunit (SCN2A), transcript variant 2, mRNA.	787					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	CGGAGCAGTTCAGCAGTGTAC	0.428000														30			16		0	0	0.000566183	0	0
MSR1	4481	broad.mit.edu	37	8	16026357	16026357	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr8:16026357C>T	uc010lsu.3	-	3	358	c.294G>A	c.(292-294)acG>acA	p.T98T	MSR1_uc003wwz.3_Silent_p.T80T|MSR1_uc003wxa.3_Silent_p.T80T|MSR1_uc003wxb.3_Silent_p.T80T|MSR1_uc011kxz.2_Intron	NM_138715	NP_619729	P21757	MSRE_HUMAN	Homo sapiens macrophage scavenger receptor 1 (MSR1), transcript variant SR-AI, mRNA.	80	Spacer (Probable).				cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity			haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		AGCAATTCTTCGTTTCCCACT	0.383000														59			24		0	0	0.00278032	0	0
ZP2	7783	broad.mit.edu	37	16	21218165	21218165	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr16:21218165G>A	uc010bwn.1	-	4	676	c.594C>T	c.(592-594)ttC>ttT	p.F198F	ZP2_uc002dii.2_Silent_p.F159F|ZP2_uc010bwo.3_Silent_p.F198F	NM_003460	NP_003451	Q05996	ZP2_HUMAN	Homo sapiens zona pellucida glycoprotein 2 (sperm receptor) (ZP2), mRNA.	159					binding of sperm to zona pellucida|intracellular protein transport	Golgi apparatus|endoplasmic reticulum|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule	acrosin binding|coreceptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41				GBM - Glioblastoma multiforme(48;0.0573)		TCACAGACATGAAATCCTTCT	0.493000														61			40		0	0	0.00170553	0	0
GP1BA	2811	broad.mit.edu	37	17	4836164	4836164	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr17:4836164G>A	uc021tnz.1	+	1	340	c.265G>A	c.(265-267)Gat>Aat	p.D89N	GP1BA_uc021toa.1_Non-coding_Transcript|GP1BA_uc021tob.1_Missense_Mutation_p.D89N	NM_000173	NP_000164	E7ES66	E7ES66_HUMAN	Homo sapiens glycoprotein Ib (platelet), alpha polypeptide (GP1BA), mRNA.	89										central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(5)|stomach(1)|urinary_tract(1)	20						GCTCCAGGTCGATGGGACGCT	0.587000														17			29		0	0	0.00178596	0	0
PCDHB9	56127	broad.mit.edu	37	5	140568504	140568504	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:140568504C>T	uc003liw.1	+	1	1610	c.1610C>T	c.(1609-1611)tCc>tTc	p.S537F		NM_019119	NP_061992	Q9Y5E1	PCDB9_HUMAN	Homo sapiens protocadherin beta 9 (PCDHB9), mRNA.	538	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding							KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GACCGCGGCTCCCCGGCTTTG	0.672000														58			19		0	0	0.000958276	0	0
PRSS50	29122	broad.mit.edu	37	3	46753940	46753940	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:46753940C>T	uc003cqe.1	-	5	1436	c.954G>A	c.(952-954)atG>atA	p.M318I	PRSS50_uc021wxe.1_Missense_Mutation_p.M318I|PRSS50_uc003cqf.2_Missense_Mutation_p.M232I	NM_013270	NP_037402	Q9UI38	TSP50_HUMAN	Homo sapiens protease, serine, 50 (PRSS50), mRNA.	318	Peptidase S1.				proteolysis	endoplasmic reticulum	serine-type endopeptidase activity|threonine-type endopeptidase activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	11						ACGTGCCCTCCATGGAGCAGA	0.627000														5			14		0	0	0.00400662	0	0
OR12D3	81797	broad.mit.edu	37	6	29342447	29342447	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:29342447C>T	uc003nme.3	-	0	622	c.618G>A	c.(616-618)atG>atA	p.M206I		NM_030959	NP_112221	Q9UGF7	O12D3_HUMAN	Homo sapiens olfactory receptor, family 12, subfamily D, member 3 (OR12D3), mRNA.	206					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)	23						AGAAAGCTCCCATGGATATGC	0.443000														59			16		0	0	0.00074312	0	0
TEX15	56154	broad.mit.edu	37	8	30703036	30703036	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr8:30703036G>A	uc003xil.3	-	0	3498	c.3498C>T	c.(3496-3498)ccC>ccT	p.P1166P		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	Homo sapiens testis expressed 15 (TEX15), mRNA.	1166										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		TTCCAGAAAAGGGCTGATGTT	0.358000														40			16		0	0	0.00316338	0	0
CACNG3	10368	broad.mit.edu	37	16	24373007	24373007	+	Silent	SNP	C	T	T	rs144805488		TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr16:24373007C>T	uc002dmf.3	+	3	1973	c.771C>T	c.(769-771)atC>atT	p.I257I		NM_006539	NP_006530	O60359	CCG3_HUMAN	Homo sapiens calcium channel, voltage-dependent, gamma subunit 3 (CACNG3), mRNA.	257					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			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)		TCCACACCATCCCTTCCACTG	0.592000														50			16		0	0	0.00316338	0	0
TXNDC11	51061	broad.mit.edu	37	16	11785896	11785897	+	Nonsense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr16:11785896_11785897GG>AA	uc010buu.1	-	8	1292_1293	c.1230_1231CC>TT	c.(1228-1233)gaccag>gaTTag	p.Q411*	TXNDC11_uc002dbg.1_Nonsense_Mutation_p.Q384*	NM_015914	NP_056998	Q6PKC3	TXD11_HUMAN	Homo sapiens thioredoxin domain containing 11 (TXNDC11), mRNA.	411					cell redox homeostasis	endoplasmic reticulum membrane|integral to membrane		p.A410A(1)		endometrium(3)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						TCCACCACCTGGTCCCCATGAC	0.619000														20			15		0	0	6.4e-05	0	0
ZNF554	115196	broad.mit.edu	37	19	2832352	2832352	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:2832352C>T	uc002lwm.2	+	3	503	c.305C>T	c.(304-306)tCc>tTc	p.S102F	ZNF554_uc002lwl.2_Missense_Mutation_p.S51F	NM_001102651	NP_001096121	Q86TJ5	ZN554_HUMAN	Homo sapiens zinc finger protein 554 (ZNF554), mRNA.	102	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGTCCACTTTCCCCAGCACAA	0.438000														98			40		0	0	0.00170553	0	0
RGL2	5863	broad.mit.edu	37	6	33264882	33264882	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:33264882G>A	uc003odv.3	-	2	727	c.167C>T	c.(166-168)tCc>tTc	p.S56F	RGL2_uc003odu.3_5'Flank|RGL2_uc010jur.3_5'UTR|RGL2_uc003odw.3_5'UTR|RGL2_uc011drb.2_5'UTR	NM_004761	NP_001230667	O15211	RGL2_HUMAN	Homo sapiens ral guanine nucleotide dissociation stimulator-like 2 (RGL2), transcript variant 1, mRNA.	56					Ras protein signal transduction|regulation of small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity			breast(2)|cervix(2)|endometrium(7)|kidney(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	34						ATCCCAGACGGACACAGGGGC	0.582000														61			16		0	0	0.00074312	0	0
CRY2	1408	broad.mit.edu	37	11	45868999	45868999	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:45868999C>T	uc010rgn.2	+	0	43	c.21C>T	c.(19-21)gcC>gcT	p.A7A	CRY2_uc009ykw.3_Intron	NM_021117	NP_066940	Q49AN0	CRY2_HUMAN	Homo sapiens cryptochrome 2 (photolyase-like) (CRY2), transcript variant 1, mRNA.	0					DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA photolyase activity|blue light photoreceptor activity|damaged DNA binding|nucleotide binding|protein binding|single-stranded DNA binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(2)	15						TCCACGTCGCCTACCGGGGCG	0.736000														8			7		0	0	0.000274275	0	0
ISLR	3671	broad.mit.edu	37	15	74467805	74467805	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr15:74467805C>T	uc002axg.1	+	1	888	c.606C>T	c.(604-606)atC>atT	p.I202I	ISLR_uc002axh.1_Silent_p.I202I|ISLR_uc021sqf.1_Silent_p.I202I	NM_005545	NP_958934	O14498	ISLR_HUMAN	Homo sapiens immunoglobulin superfamily containing leucine-rich repeat (ISLR), transcript variant 1, mRNA.	202	LRRCT.				cell adhesion	extracellular region		p.I202T(1)		central_nervous_system(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	20						CCGTGTCCATCCCGGAGCAGG	0.662000														9			21		0	0	0.00278032	0	0
OR4X2	119764	broad.mit.edu	37	11	48267532	48267532	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:48267532C>T	uc001ngs.1	+	0	877	c.877C>T	c.(877-879)Ctg>Ttg	p.L293L		NM_001004727	NP_001004727	Q8NGF9	OR4X2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily X, member 2 (OR4X2), mRNA.	293					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	20						CATGAAGAGGCTGTGGATTAG	0.438000														58			20		0	0	0.00278032	0	0
KRTAP13-1	140258	broad.mit.edu	37	21	31768640	31768640	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr21:31768640C>T	uc002yoa.3	+	0	249	c.236C>T	c.(235-237)tCc>tTc	p.S79F		NM_181599	NP_853630	Q8IUC0	KR131_HUMAN	Homo sapiens keratin associated protein 13-1 (KRTAP13-1), mRNA.	79	5 X 10 AA approximate repeats.					intermediate filament				endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TGCCAGACCTCCTGCTACCGT	0.607000														38			19		0	0	0.00188189	0	0
SACS	26278	broad.mit.edu	37	13	23908108	23908108	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr13:23908108G>A	uc001uon.2	-	9	10496	c.9907C>T	c.(9907-9909)Cct>Tct	p.P3303S	SACS_uc001uoo.2_Missense_Mutation_p.P3156S|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	Homo sapiens spastic ataxia of Charlevoix-Saguenay (sacsin) (SACS), mRNA.	3303					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|Hsp70 protein binding|chaperone binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		AGGCTGAGAGGAAGCAGAACA	0.418000														43			18		0	0	0.000958276	0	0
PHC3	80012	broad.mit.edu	37	3	169820598	169820598	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:169820598G>A	uc003fgl.2	-	12	2627	c.2593C>T	c.(2593-2595)Ctt>Ttt	p.L865F	PHC3_uc010hws.1_Missense_Mutation_p.L853F|PHC3_uc011bpq.1_Missense_Mutation_p.L812F	NM_024947	NP_079223	Q8NDX5	PHC3_HUMAN	Homo sapiens polyhomeotic homolog 3 (Drosophila) (PHC3), mRNA.	853					multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2)	26	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			ACCTGCCTAAGGATATGTTCT	0.443000														32			18		0	0	0.00188189	0	0
MYH8	4626	broad.mit.edu	37	17	10299869	10299869	+	Splice_Site	SNP	C	G	G			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr17:10299869C>G	uc002gmm.2	-	32	4623	c.4528_splice	c.e32+1	p.Q1510_splice	AK097500_uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA.	1510					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TGAGGACTCACGTTGCAAGTT	0.463000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling					8			10		0	0	0.000442599	0	0
CTU1	90353	broad.mit.edu	37	19	51602353	51602353	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:51602353G>A	uc010eop.3	-	2	617	c.552C>T	c.(550-552)ttC>ttT	p.F184F		NM_145232	NP_660275	Q7Z7A3	CTU1_HUMAN	Homo sapiens cytosolic thiouridylase subunit 1 homolog (S. pombe) (CTU1), mRNA.	184					tRNA thio-modification|tRNA wobble uridine modification	cytosol	ATP binding|protein binding|tRNA binding|transferase activity			large_intestine(2)|lung(1)|urinary_tract(1)	4						cgccccgTAGGAAGTTCATGA	0.766000														15			4		0	0	0.00024832	0	0
FAT3	120114	broad.mit.edu	37	11	92534702	92534702	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:92534702G>A	uc001pdj.4	+	8	8540	c.8523G>A	c.(8521-8523)atG>atA	p.M2841I		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	2841	Cadherin 26.				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)				CTATTGATATGGACTGGGGAG	0.468000										TCGA Ovarian(4;0.039)				112			106		0	0	0.00361006	0	0
EPS8L2	64787	broad.mit.edu	37	11	723296	723296	+	Missense_Mutation	SNP	C	T	T	rs142895363	by1000genomes	TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:723296C>T	uc001lqt.3	+	14	1644	c.1397C>T	c.(1396-1398)tCa>tTa	p.S466L	EPS8L2_uc001lqu.3_Missense_Mutation_p.S466L|EPS8L2_uc010qwk.2_Missense_Mutation_p.S482L|EPS8L2_uc001lqv.3_Missense_Mutation_p.S421L|EPS8L2_uc001lqw.3_Missense_Mutation_p.S78L|EPS8L2_uc001lqx.3_Missense_Mutation_p.S78L|EPS8L2_uc001lqy.3_5'Flank	NM_022772	NP_073609	Q9H6S3	ES8L2_HUMAN	Homo sapiens EPS8-like 2 (EPS8L2), mRNA.	466						cytoplasm				NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|pancreas(1)|prostate(2)|soft_tissue(1)|urinary_tract(1)	13		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;4.37e-27)|Epithelial(43;2.81e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-20)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AGCCCCACTTCAGAGCCCACC	0.602000											OREG0020659	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		31			13		0	0	0.00400662	0	0
GORAB	92344	broad.mit.edu	37	1	170501292	170501292	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:170501292G>A	uc001gha.2	+	0	30	c.3G>A	c.(1-3)atG>atA	p.M1I	GORAB_uc009wvw.2_Missense_Mutation_p.M1I|GORAB_uc001ggz.4_Missense_Mutation_p.M1I|GORAB_uc009wvx.2_5'UTR|GORAB_uc001ghb.2_5'UTR	NM_152281	NP_689494	Q5T7V8	GORAB_HUMAN	Homo sapiens golgin, RAB6-interacting (GORAB), transcript variant 1, mRNA.	1						Golgi apparatus|nucleus				endometrium(2)|large_intestine(3)|liver(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	17						AAACCCGGATGAGCTGGGCAG	0.662000														21			9		0	0	0.000274275	0	0
CATSPERG	57828	broad.mit.edu	37	19	38847151	38847151	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:38847151C>T	uc002oih.4	+	9	1250	c.1163C>T	c.(1162-1164)cCc>cTc	p.P388L	CATSPERG_uc002oig.4_Missense_Mutation_p.P388L|CATSPERG_uc002oif.4_Missense_Mutation_p.P28L|CATSPERG_uc010efw.3_Non-coding_Transcript	NM_021185	NP_067008	Q6ZRH7	CTSRG_HUMAN	Homo sapiens cation channel, sperm-associated, gamma (CATSPERG), mRNA.	388					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						GAGATGCTGCCCAGGCAGTGG	0.597000														38			14		0	0	0.00244969	0	0
TSSK1B	83942	broad.mit.edu	37	5	112769787	112769787	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:112769787G>A	uc003kqm.2	-	0	942	c.750C>T	c.(748-750)taC>taT	p.Y250Y	MCC_uc003kql.4_Intron	NM_032028	NP_114417	Q9BXA7	TSSK1_HUMAN	Homo sapiens testis-specific serine kinase 1B (TSSK1B), mRNA.	250	Protein kinase.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(8)|ovary(2)|skin(2)|stomach(1)	13		all_cancers(142;0.0138)|all_epithelial(76;0.000445)|Colorectal(10;0.00814)|Prostate(80;0.0115)|Ovarian(225;0.156)		Epithelial(69;4.15e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.49e-08)|all cancers(49;3.2e-06)|COAD - Colon adenocarcinoma(37;0.0371)|Colorectal(14;0.0449)		GCAGCATGTGGTAGATGAGGT	0.602000														27			13		0	0	0.00244969	0	0
TTN	7273	broad.mit.edu	37	2	179416592	179416592	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:179416592C>T	uc021vsy.1	-	283	83556	c.83331G>A	c.(83329-83331)tgG>tgA	p.W27777*	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Nonsense_Mutation_p.W21472*|TTN_uc021vta.1_Nonsense_Mutation_p.W21405*|TTN_uc021vtb.1_Nonsense_Mutation_p.W21280*	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	28704	Fibronectin type-III 102.						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)			CTGGAGCATCCCAAGTTAGTG	0.408000														131			67		0	0	0.00361006	0	0
KDR	3791	broad.mit.edu	37	4	55956220	55956220	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr4:55956220C>T	uc003has.3	-	22	3397	c.3095G>A	c.(3094-3096)cGa>cAa	p.R1032Q	KDR_uc003hat.1_Missense_Mutation_p.R1032Q	NM_002253	NP_002244	P35968	VGFR2_HUMAN	Homo sapiens kinase insert domain receptor (a type III receptor tyrosine kinase) (KDR), mRNA.	1032	Protein kinase.				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|Hsp90 protein binding|growth factor binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity	p.R1032Q(4)|p.R1032*(1)		NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	GAGGATATTTCGTGCCGCCAG	0.448000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)				55			29		0	0	0.0024448	0	0
ARHGAP30	257106	broad.mit.edu	37	1	161018662	161018662	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:161018662C>T	uc001fxl.3	-	11	2495	c.2149G>A	c.(2149-2151)Gaa>Aaa	p.E717K	USF1_uc001fxj.3_5'Flank|USF1_uc001fxi.3_5'Flank|ARHGAP30_uc001fxk.3_Intron|ARHGAP30_uc001fxm.3_Missense_Mutation_p.E563K|ARHGAP30_uc009wtx.3_Missense_Mutation_p.E390K	NM_001025598	NP_001020769	Q7Z6I6	RHG30_HUMAN	Homo sapiens Rho GTPase activating protein 30 (ARHGAP30), transcript variant 1, mRNA.	717	Glu-rich.				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)			GACTTCTCTTCCTTGGCCTCT	0.502000														140			77		0	0	0.00361006	0	0
NBEAL1	65065	broad.mit.edu	37	2	204000556	204000556	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:204000556G>A	uc002uzt.3	+	26	4216	c.3883G>A	c.(3883-3885)Gat>Aat	p.D1295N	NBEAL1_uc021vvj.1_5'UTR	NM_001114132	NP_001107604	Q6ZS30	NBEL1_HUMAN	Homo sapiens neurobeachin-like 1 (NBEAL1), mRNA.	1295							binding	p.I1295M(1)		NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						GAAAGACAATGATAAAAATAT	0.348000														305			159		0	0	0.00361006	0	0
MAGEC1	9947	broad.mit.edu	37	X	140996286	140996286	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chrX:140996286G>A	uc004fbt.3	+	3	3420	c.3096G>A	c.(3094-3096)agG>agA	p.R1032R	MAGEC1_uc010nsl.2_Silent_p.R99R|MAGEC1_uc022cfi.1_Silent_p.R691R	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	1032	MAGE.						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)					GTGCTGGGAGGGAGCACTTTG	0.532000										HNSCC(15;0.026)				8			36		0	0	0.00128727	0	0
C20orf194	25943	broad.mit.edu	37	20	3297412	3297412	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr20:3297412G>A	uc002wii.2	-	17	1548	c.1497C>T	c.(1495-1497)tcC>tcT	p.S499S	C20orf194_uc002wij.3_Silent_p.S238S|C20orf194_uc002wik.2_Silent_p.S173S	NM_001009984	NP_001009984	Q5TEA3	CT194_HUMAN	Homo sapiens chromosome 20 open reading frame 194 (C20orf194), mRNA.	499										NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	39						TCAGGACTACGGAGCTGGTTT	0.537000														33			12		0	0	0.000566183	0	0
FMNL2	114793	broad.mit.edu	37	2	153482056	153482056	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:153482056G>A	uc002tye.3	+	15	2309	c.1942G>A	c.(1942-1944)Gat>Aat	p.D648N	FMNL2_uc010fob.3_Missense_Mutation_p.D104N|FMNL2_uc002tyf.3_Missense_Mutation_p.D97N	NM_052905	NP_443137	Q96PY5	FMNL2_HUMAN	Homo sapiens formin-like 2 (FMNL2), mRNA.	648	FH2.				actin cytoskeleton organization	cytoplasm	Rho GTPase binding|actin binding			central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	23						CAATGAAATTGATGATGAGCG	0.433000														50			12		0	0	0.00185496	0	0
MCHR2	84539	broad.mit.edu	37	6	100390994	100390994	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:100390994G>A	uc003pqh.1	-	3	733	c.418C>T	c.(418-420)Cga>Tga	p.R140*	MCHR2_uc003pqi.1_Nonsense_Mutation_p.R140*	NM_001040179	NP_115892	Q969V1	MCHR2_HUMAN	Homo sapiens melanin-concentrating hormone receptor 2 (MCHR2), transcript variant 1, mRNA.	140						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.R140*(2)		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)		CGTGTCAGTCGAAATGGTTGG	0.478000														70			34		0	0	0.00375469	0	0
FCRL6	343413	broad.mit.edu	37	1	159777981	159777981	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:159777981C>T	uc001fud.4	+	2	108	c.66C>T	c.(64-66)ctC>ctT	p.L22L	FCRL6_uc010pix.1_Silent_p.L17L|FCRL6_uc001fuc.2_Silent_p.L29L|FCRL6_uc009wsz.1_Silent_p.L22L|FCRL6_uc009wta.3_Silent_p.L22L	NM_001004310	NP_001004310	Q6DN72	FCRL6_HUMAN	Homo sapiens Fc receptor-like 6 (FCRL6), mRNA.	22	Ig-like C2-type 1.					integral to membrane				NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	24	all_hematologic(112;0.0597)					GGCTGTACCTCCAAGCCTGGC	0.562000														26			13		0	0	0.000566183	0	0
ACSL6	23305	broad.mit.edu	37	5	131308513	131308513	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:131308513G>A	uc003kvx.2	-	12	1351	c.1242C>T	c.(1240-1242)ctC>ctT	p.L414L	ACSL6_uc003kvv.1_Non-coding_Transcript|ACSL6_uc003kwb.3_Silent_p.L379L|ACSL6_uc003kvy.2_Silent_p.L414L|ACSL6_uc003kvz.2_Silent_p.L314L|ACSL6_uc021ydh.1_Silent_p.L314L|ACSL6_uc010jdo.2_Silent_p.L389L|ACSL6_uc003kwa.2_Silent_p.L400L|ACSL6_uc003kvw.2_Silent_p.L35L|ACSL6_uc010jdn.2_Silent_p.L404L	NM_015256	NP_001192177	Q9UKU0	ACSL6_HUMAN	Homo sapiens acyl-CoA synthetase long-chain family member 6 (ACSL6), transcript variant 1, mRNA.	389					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane|plasma membrane	ATP binding|long-chain fatty acid-CoA ligase activity			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	35		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CAAACTCCAGGAGCCAGCGCT	0.453000														50			24		0	0	0.000878237	0	0
ZNF318	24149	broad.mit.edu	37	6	43322558	43322558	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:43322558G>A	uc003oux.3	-	3	2592	c.2514C>T	c.(2512-2514)atC>atT	p.I838I	ZNF318_uc003ouw.3_Non-coding_Transcript	NM_014345	NP_055160	Q5VUA4	ZN318_HUMAN	Homo sapiens zinc finger protein 318 (ZNF318), mRNA.	838					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			TCACAGTGGGGATCACACGAA	0.512000														47			16		0	0	0.00152264	0	0
PRKCQ	5588	broad.mit.edu	37	10	6483980	6483980	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr10:6483980C>T	uc001iji.1	-	14	1894	c.1810G>A	c.(1810-1812)Gaa>Aaa	p.E604K	PRKCQ_uc001ijj.2_Missense_Mutation_p.E571K|PRKCQ_uc009xim.2_Intron|PRKCQ_uc009xin.2_Missense_Mutation_p.E535K|PRKCQ_uc010qax.2_Missense_Mutation_p.E446K	NM_006257	NP_006248	Q04759	KPCT_HUMAN	Homo sapiens protein kinase C, theta (PRKCQ), transcript variant 1, mRNA.	571	Protein kinase.				T cell receptor signaling pathway|axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45						ATCAGCATTTCATAAAGGAGA	0.512000														46			12		0	0	0.00185496	0	0
HLA-DRB5	3127	broad.mit.edu	37	6	32487313	32487313	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:32487313C>T	uc003obj.3	-	2	491	c.486G>A	c.(484-486)cgG>cgA	p.R162R	HLA-DRB5_uc003obk.4_Silent_p.R162R	NM_002125	NP_002116	Q30154	DRB5_HUMAN	Homo sapiens major histocompatibility complex, class II, DR beta 5 (HLA-DRB5), mRNA.	162	Beta-2.|Ig-like C1-type.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response	Golgi apparatus|MHC class II protein complex|endoplasmic reticulum membrane|integral to membrane|late endosome membrane|lysosomal membrane				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|stomach(2)	10						CCTGGCTGTTCCGGAACCACC	0.552000														189			23		0	0	0.00209593	0	0
C12orf63	374467	broad.mit.edu	37	12	97078503	97078503	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:97078503G>A	uc021rcc.1	+	7	1147	c.1069G>A	c.(1069-1071)Gaa>Aaa	p.E357K				Q6ZTY8	CL063_HUMAN	RecName: Full=Putative uncharacterized protein C12orf63;	357										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						CATCTTCGCAGAAAAGAAAAG	0.323000														84			29		0	0	0.001512	0	0
CXCL3	2921	broad.mit.edu	37	4	74903826	74903826	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr4:74903826C>T	uc003hhl.3	-	2	454	c.292G>A	c.(292-294)Gaa>Aaa	p.E98K		NM_002090	NP_002081	P19876	CXCL3_HUMAN	Homo sapiens chemokine (C-X-C motif) ligand 3 (CXCL3), mRNA.	98					immune response|inflammatory response|neutrophil chemotaxis	extracellular space	chemokine activity			central_nervous_system(1)|endometrium(1)	2	Breast(15;0.00612)		all cancers(17;0.00273)|Lung(101;0.196)			AGTATCTTTTCGATGATTTTC	0.468000														36			13		0	0	0.00136819	0	0
MUSK	4593	broad.mit.edu	37	9	113563252	113563252	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr9:113563252G>A	uc022blv.1	+	14	2728	c.2594G>A	c.(2593-2595)gGa>gAa	p.G865E	MUSK_uc022blt.1_3'UTR|MUSK_uc004bez.2_Missense_Mutation_p.G776E|MUSK_uc022blu.1_Missense_Mutation_p.G766E	NM_005592	NP_005583	O15146	MUSK_HUMAN	Homo sapiens muscle, skeletal, receptor tyrosine kinase (MUSK), transcript variant 1, mRNA.	865					transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						AGGGCAGAGGGAACTGTGAGT	0.493000														24			9		0	0	0.000673444	0	0
INSRR	3645	broad.mit.edu	37	1	156814028	156814028	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:156814028G>A	uc010pht.2	-	14	3081	c.2782C>T	c.(2782-2784)Cct>Tct	p.P928S	NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron	NM_014215	NP_055030	P14616	INSRR_HUMAN	Homo sapiens insulin receptor-related receptor (INSRR), mRNA.	928			P -> L (in dbSNP:rs56252149).		protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity	p.P928L(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					AGCCCCACAGGGGTGGCAGTG	0.582000														32			7		0	0	0.00198382	0	0
FREM2	341640	broad.mit.edu	37	13	39450237	39450237	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr13:39450237C>T	uc001uwv.3	+	18	8669	c.8360C>T	c.(8359-8361)cCa>cTa	p.P2787L		NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	Homo sapiens FRAS1 related extracellular matrix protein 2 (FREM2), mRNA.	2787					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		AGGAGTGAACCAACCTATAAC	0.443000														124			49		0	0	0.00361006	0	0
CCDC62	84660	broad.mit.edu	37	12	123273346	123273346	+	Nonsense_Mutation	SNP	T	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:123273346T>A	uc001udc.3	+	4	702	c.540T>A	c.(538-540)tgT>tgA	p.C180*	CCDC62_uc010tah.2_Non-coding_Transcript|CCDC62_uc001ude.3_Intron|CCDC62_uc021rfn.1_5'UTR	NM_201435	NP_958843	Q6P9F0	CCD62_HUMAN	Homo sapiens coiled-coil domain containing 62 (CCDC62), transcript variant 2, mRNA.	180						cytoplasm|nucleus				breast(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.51e-06)|Epithelial(86;2.65e-05)|BRCA - Breast invasive adenocarcinoma(302;0.206)		TTGCAGATTGTTCGGGTAAAT	0.348000														66			24		0	0	0.000720815	0	0
BAI3	577	broad.mit.edu	37	6	70064197	70064197	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:70064197C>T	uc010kak.3	+	25	3808	c.3532C>T	c.(3532-3534)Cct>Tct	p.P1178S	BAI3_uc003pev.4_Missense_Mutation_p.P1178S|BAI3_uc011dxx.2_Missense_Mutation_p.P384S	NM_001704	NP_001695	O60242	BAI3_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 3 (BAI3), mRNA.	1178					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				GAGTTCGTTTCCTAATGGGCA	0.383000														94			39		0	0	0.00222228	0	0
TRPC1	7220	broad.mit.edu	37	3	142523420	142523420	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:142523420G>A	uc003evc.3	+	11	2238	c.2102G>A	c.(2101-2103)tGg>tAg	p.W701*	TRPC1_uc003evb.3_Nonsense_Mutation_p.W667*	NM_001251845	NP_001238774	P48995	TRPC1_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 1 (TRPC1), transcript variant 1, mRNA.	701					axon guidance|cytosolic calcium ion homeostasis|positive regulation of release of sequestered calcium ion into cytosol|response to calcium ion	cytosol|integral to plasma membrane	protein binding|store-operated calcium channel activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1)	37						CTCAGTAAGTGGATTTGCTCT	0.373000														49			24		0	0	0.001512	0	0
RNF157	114804	broad.mit.edu	37	17	74151703	74151703	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr17:74151703C>T	uc002jqz.3	-	14	1707	c.1638G>A	c.(1636-1638)gaG>gaA	p.E546E	RNF157_uc002jra.3_Silent_p.E546E|DQ570973_uc002jrb.1_5'Flank	NM_052916	NP_443148	Q96PX1	RN157_HUMAN	Homo sapiens ring finger protein 157 (RNF157), mRNA.	546							zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	25			LUSC - Lung squamous cell carcinoma(166;0.187)			CCTCTCCCTCCTCTTCAGTGC	0.617000														29			7		0	0	0.00307968	0	0
AXDND1	126859	broad.mit.edu	37	1	179460692	179460692	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:179460692C>T	uc001gmo.3	+	18	2498	c.2111C>T	c.(2110-2112)tCt>tTt	p.S704F	AXDND1_uc010pnl.2_Non-coding_Transcript|AXDND1_uc009wxg.3_Non-coding_Transcript|AXDND1_uc021pfj.1_Missense_Mutation_p.S662F|AXDND1_uc009wxh.3_Non-coding_Transcript	NM_144696	NP_653297	Q5T1B0	AXDN1_HUMAN	Homo sapiens axonemal dynein light chain domain containing 1 (AXDND1), mRNA.	704										NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						TTACATATATCTATGATCCAG	0.318000														39			16		0	0	0.00074312	0	0
GRM3	2913	broad.mit.edu	37	7	86469060	86469060	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:86469060G>A	uc003uid.3	+	3	3329	c.2230G>A	c.(2230-2232)Gat>Aat	p.D744N	GRM3_uc010lef.3_Intron|GRM3_uc010leg.3_Missense_Mutation_p.D616N|GRM3_uc010leh.3_Missense_Mutation_p.D336N	NM_000840	NP_000831	Q14832	GRM3_HUMAN	Homo sapiens glutamate receptor, metabotropic 3 (GRM3), mRNA.	744					synaptic transmission	integral to plasma membrane		p.Y743Y(1)		NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	TCTTACCTACGATGTGATCCT	0.463000														35			16		0	0	0.00400662	0	0
GPR115	221393	broad.mit.edu	37	6	47681824	47681824	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:47681824G>A	uc003oyz.1	+	6	1014	c.1014G>A	c.(1012-1014)agG>agA	p.R338R	GPR115_uc003oza.1_Silent_p.R281R|GPR115_uc003ozb.1_Silent_p.R281R|RN7SK_uc021zaf.1_5'Flank	NM_153838	NP_722580	Q8IZF3	GP115_HUMAN	Homo sapiens G protein-coupled receptor 115 (GPR115), mRNA.	281					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.E337>?(1)		NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						AAGAGCTAAGGAAGCTGTGGC	0.463000														36			17		0	0	0.000958276	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140167741	140167741	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:140167741C>T	uc003lhb.2	+	0	1866	c.1866C>T	c.(1864-1866)ttC>ttT	p.F622F	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lgz.3_Silent_p.F622F	NM_018900	NP_061723	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 1 (PCDHA1), transcript variant 1, mRNA.	633	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCATCCCGTTCCGCGTGGGGC	0.657000														43			25		0	0	0.000878237	0	0
ACP1	52	broad.mit.edu	37	2	272128	272128	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:272128C>T	uc002qwf.3	+	2	305	c.209C>T	c.(208-210)cCc>cTc	p.P70L	ACP1_uc002qwd.2_Missense_Mutation_p.P70L|ACP1_uc002qwe.4_Intron|ACP1_uc002qwg.3_Intron|ACP1_uc002qwh.3_Intron	NM_004300	NP_004291	P24666	PPAC_HUMAN	Homo sapiens acid phosphatase 1, soluble (ACP1), transcript variant 3, mRNA.	70						cytoplasm|internal side of plasma membrane|nucleus|soluble fraction	acid phosphatase activity|identical protein binding|non-membrane spanning protein tyrosine phosphatase activity			endometrium(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	12	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.00175)|Lung NSC(108;0.216)|all_epithelial(98;0.236)		all cancers(51;0.000391)|Epithelial(75;0.00281)|OV - Ovarian serous cystadenocarcinoma(76;0.00542)|GBM - Glioblastoma multiforme(21;0.127)		CACGGCATTCCCATGAGCCAC	0.577000														38			20		0	0	0.00229938	0	0
ZCWPW1	55063	broad.mit.edu	37	7	100004371	100004371	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:100004371G>A	uc003uut.3	-	11	1364	c.1116C>T	c.(1114-1116)atC>atT	p.I372I	ZCWPW1_uc011kjq.2_Silent_p.I252I|ZCWPW1_uc003uur.3_Silent_p.I252I|ZCWPW1_uc003uus.3_Silent_p.I252I|ZCWPW1_uc011kjr.2_Silent_p.I372I|ZCWPW1_uc003uuu.1_Silent_p.I373I|ZCWPW1_uc011kjp.2_Non-coding_Transcript	NM_017984	NP_060454	Q9H0M4	ZCPW1_HUMAN	Homo sapiens zinc finger, CW type with PWWP domain 1 (ZCWPW1), mRNA.	372	PWWP.						zinc ion binding			breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TGTTGACTGGGATCCATGCAC	0.448000														61			19		0	0	0.00152264	0	0
MED13L	23389	broad.mit.edu	37	12	116445418	116445418	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:116445418C>A	uc001tvw.3	-	10	2091	c.2036G>T	c.(2035-2037)cGg>cTg	p.R679L		NM_015335	NP_056150	Q71F56	MD13L_HUMAN	Homo sapiens mediator complex subunit 13-like (MED13L), mRNA.	679					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent			p.R679L(2)		NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		GATTTTAAACCGTTTGTTAGG	0.368000														138			6		0.00198382	0.00617672	0.00198382	1	0
BC128131	0	broad.mit.edu	37	19	23159500	23159500	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:23159500G>A	uc002nqz.1	-	1	473	c.447C>T	c.(445-447)tcC>tcT	p.S149S	BC128131_uc002nqy.1_Non-coding_Transcript					Homo sapiens zinc finger protein 117, mRNA (cDNA clone IMAGE:40112371).																		TAAGGGCTGAGGACCAGTTAA	0.368000														36			12		0	0	0.00136819	0	0
ANKRD20A9P	284232	broad.mit.edu	37	13	19419839	19419839	+	RNA	SNP	A	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr13:19419839A>T	uc010tcj.1	-	0		c.26271T>A								Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA.																		TACTAAAGCAAAAAAAAACCT	0.284000														74			12		0	0	0.00136819	0	0
OR5H2	79310	broad.mit.edu	37	3	98002051	98002051	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:98002051T>A	uc003dsj.1	+	0	320	c.320T>A	c.(319-321)tTt>tAt	p.F107Y		NM_001005482	NP_001005482	Q8NGV7	OR5H2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily H, member 2 (OR5H2), mRNA.	107					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	24						ATTCAATTTTTTTCCTTTGCA	0.368000														79			44		0	0	0.00361006	0	0
GRM3	2913	broad.mit.edu	37	7	86416063	86416064	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:86416063_86416064GG>AA	uc003uid.3	+	2	2054_2055	c.955_956GG>AA	c.(955-957)ggc>AAc	p.G319N	GRM3_uc010lef.3_Missense_Mutation_p.G317N|GRM3_uc010leg.3_Missense_Mutation_p.G191N|GRM3_uc010leh.3_Intron	NM_000840	NP_000831	Q14832	GRM3_HUMAN	Homo sapiens glutamate receptor, metabotropic 3 (GRM3), mRNA.	319					synaptic transmission	integral to plasma membrane		p.Y318*(1)		NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	TGTGGCCTACGGCGCCATCACC	0.673000														20			12		0	0	6.4e-05	0	0
ITIH5	80760	broad.mit.edu	37	10	7608105	7608105	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr10:7608105G>A	uc021pmv.1	-	12	2521	c.2415C>T	c.(2413-2415)gcC>gcT	p.A805A	ITIH5_uc021pmu.1_Silent_p.A591A	NM_030569	NP_085046	Q86UX2	ITIH5_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain family, member 5 (ITIH5), transcript variant 1, mRNA.	805					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						GGATGACAAAGGCTATGGAGC	0.602000														30			10		0	0	0.000673444	0	0
RBM46	166863	broad.mit.edu	37	4	155718033	155718033	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr4:155718033G>A	uc003ioo.3	+	1	302	c.129G>A	c.(127-129)agG>agA	p.R43R	RBM46_uc011cim.1_Silent_p.R43R|RBM46_uc003iop.1_Silent_p.R43R	NM_144979	NP_659416	Q8TBY0	RBM46_HUMAN	Homo sapiens RNA binding motif protein 46 (RBM46), mRNA.	43							RNA binding|nucleotide binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|skin(3)|urinary_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0854)				ATGGACAAAGGAAATTTGGCG	0.383000														49			22		0	0	0.000720815	0	0
ARID2	196528	broad.mit.edu	37	12	46230691	46230691	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:46230691C>T	uc001ros.1	+	7	940	c.940C>T	c.(940-942)Cgt>Tgt	p.R314C	ARID2_uc001ror.3_Missense_Mutation_p.R314C|ARID2_uc009zkg.1_5'UTR|ARID2_uc009zkh.1_5'Flank|ARID2_uc001rot.1_5'UTR	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	Homo sapiens AT rich interactive domain 2 (ARID, RFX-like) (ARID2), mRNA.	314					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	p.R314S(2)|p.R314C(2)|p.L313L(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		TACCTGTCTTCGTTTCCTATT	0.398000			"""N, S, F"""		hepatocellular carcinoma									73			30		0	0	0.001512	0	0
PCSK5	5125	broad.mit.edu	37	9	78711007	78711007	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr9:78711007G>A	uc004akc.2	+	7	1634	c.1096G>A	c.(1096-1098)Gat>Aat	p.D366N	PCSK5_uc004ajy.2_Missense_Mutation_p.D366N|PCSK5_uc004ajz.3_Missense_Mutation_p.D366N|PCSK5_uc004aka.3_Non-coding_Transcript	NM_001190482	NP_001177411	Q92824	PCSK5_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 5 (PCSK5), transcript variant 1, mRNA.	366	Catalytic.				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	Golgi lumen|extracellular space|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						GGAGTCCTACGATAAGAAAAT	0.428000														18			19		0	0	0.00188189	0	0
RC3H2	54542	broad.mit.edu	37	9	125622240	125622240	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr9:125622240G>A	uc010mwc.1	-	10	2046	c.1805C>T	c.(1804-1806)cCa>cTa	p.P602L	RC3H2_uc004bnc.2_Non-coding_Transcript|RC3H2_uc004bnd.1_Missense_Mutation_p.P602L|RC3H2_uc004bne.4_Missense_Mutation_p.P602L	NM_001100588	NP_001094058	Q9HBD1	RC3H2_HUMAN	Homo sapiens ring finger and CCCH-type domains 2 (RC3H2), transcript variant 1, mRNA.	602	Pro-rich.					cell surface|endomembrane system|membrane|membrane fraction|perinuclear region of cytoplasm	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						CTGAGTCCTTGGATCTTGAAA	0.378000														168			150		0	0	0.00361006	0	0
HJURP	55355	broad.mit.edu	37	2	234749336	234749336	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:234749336G>A	uc002vvg.3	-	7	2156	c.2090C>T	c.(2089-2091)tCc>tTc	p.S697F	HJURP_uc010znd.2_Missense_Mutation_p.S636F|HJURP_uc010zne.2_Missense_Mutation_p.S605F	NM_018410	NP_060880	Q8NCD3	HJURP_HUMAN	Homo sapiens Holliday junction recognition protein (HJURP), mRNA.	697					CenH3-containing nucleosome assembly at centromere|cell cycle|centromeric core chromatin assembly|chromosome segregation|regulation of DNA binding|regulation of protein complex assembly	condensed chromosome kinetochore|cytoplasm|nucleolus|nucleoplasm	DNA binding|histone binding			NS(2)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Breast(86;0.00204)|all_lung(227;0.00433)|Renal(207;0.00685)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0719)|Lung SC(224;0.128)		Epithelial(121;2.01e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000186)|Lung(119;0.00521)|LUSC - Lung squamous cell carcinoma(224;0.00829)		GGCACCCAGGGAATTGCCCTG	0.597000														73			19		0	0	0.00121646	0	0
NRAS	4893	broad.mit.edu	37	1	115256529	115256529	+	Missense_Mutation	SNP	T	C	C	rs11554290		TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	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)				82			92		0	0	0.00361006	0	0
MYH8	4626	broad.mit.edu	37	17	10295881	10295881	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr17:10295881C>T	uc002gmm.2	-	37	5641	c.5546G>A	c.(5545-5547)cGa>cAa	p.R1849Q	AK097500_uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA.	1849					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle	p.R1848*(1)		NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TTCTTTTACTCGTCGCTCATG	0.403000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling					66			43		0	0	0.00361006	0	0
RSPH3	83861	broad.mit.edu	37	6	159420880	159420880	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:159420880C>T	uc003qrx.3	-	0	319	c.129G>A	c.(127-129)ggG>ggA	p.G43G	RSPH3_uc010kju.3_Silent_p.G43G	NM_031924	NP_114130	Q86UC2	RSPH3_HUMAN	Homo sapiens radial spoke 3 homolog (Chlamydomonas) (RSPH3), mRNA.	43								p.P42P(1)		endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|skin(1)|stomach(7)	23		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;2.36e-16)|BRCA - Breast invasive adenocarcinoma(81;5.92e-06)		CCCCAGGTTTCCCGGGAAGGA	0.687000														20			6		0	0	0.00198382	0	0
TACC2	10579	broad.mit.edu	37	10	123845785	123845785	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr10:123845785C>T	uc001lfv.3	+	3	4130	c.3770C>T	c.(3769-3771)tCc>tTc	p.S1257F	TACC2_uc001lfw.3_Intron|TACC2_uc009xzx.3_Missense_Mutation_p.S1257F|TACC2_uc010qtv.2_Missense_Mutation_p.S1257F	NM_206862	NP_996744	O95359	TACC2_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA.	1257						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)				AAAGCTGTTTCCTCTGCAGAC	0.592000														31			25		0	0	0.000878237	0	0
PLCH1	23007	broad.mit.edu	37	3	155200480	155200480	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:155200480T>A	uc021xge.1	-	22	3636	c.3359A>T	c.(3358-3360)aAa>aTa	p.K1120I	PLCH1_uc021xgd.1_3'UTR|PLCH1_uc021xgf.1_Missense_Mutation_p.K1082I	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	Homo sapiens phospholipase C, eta 1 (PLCH1), transcript variant 1, mRNA.	1120					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity	p.M1120I(1)		NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			CAAGATGCTTTTCCCTTCCAC	0.458000														62			22		0	0	0.00152264	0	0
TBC1D10A	83874	broad.mit.edu	37	22	30682330	30682330	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr22:30682330G>A	uc003ahd.3	-	5	795	c.665C>T	c.(664-666)cCc>cTc	p.P222L	TBC1D10A_uc003ahf.3_Non-coding_Transcript|TBC1D10A_uc003ahg.3_Non-coding_Transcript|TBC1D10A_uc003ahh.3_Intron|TBC1D10A_uc003ahi.3_Intron|TBC1D10A_uc010gvq.3_Intron|TBC1D10A_uc010gvr.3_3'UTR	NM_001037666	NP_001032755	Q9BXI6	TB10A_HUMAN	Homo sapiens GATS protein-like 3 (GATSL3), mRNA.	0	Rab-GAP TBC.					intracellular|microvillus	PDZ domain binding|Rab GTPase activator activity|guanyl-nucleotide exchange factor activity			cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						GATGGAGCTGGGTTCAGGACT	0.582000														43			23		0	0	0.000720815	0	0
MUC16	94025	broad.mit.edu	37	19	9067129	9067129	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:9067129G>A	uc002mkp.3	-	2	20521	c.20317C>T	c.(20317-20319)Cca>Tca	p.P6773S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	6775	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						TCTGAGTGTGGAAATTCCTGA	0.488000														160			48		0	0	0.00361006	0	0
GUCY1A2	2977	broad.mit.edu	37	11	106558458	106558458	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:106558458G>A	uc009yxn.1	-	8	2499	c.2109C>T	c.(2107-2109)ttC>ttT	p.F703F	GUCY1A2_uc001pjg.1_Silent_p.F672F|GUCY1A2_uc010rvo.1_Silent_p.F693F	NM_000855	NP_000846	P33402	GCYA2_HUMAN	Homo sapiens guanylate cyclase 1, soluble, alpha 2 (GUCY1A2), transcript variant 2, mRNA.	672					intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding			breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)		GAATGAATGTGAAACTTTCTT	0.408000														43			34		0	0	0.00327116	0	0
ARID2	196528	broad.mit.edu	37	12	46230641	46230641	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:46230641C>T	uc001ros.1	+	7	890	c.890C>T	c.(889-891)tCc>tTc	p.S297F	ARID2_uc001ror.3_Missense_Mutation_p.S297F|ARID2_uc009zkg.1_5'UTR|ARID2_uc009zkh.1_5'Flank|ARID2_uc001rot.1_5'UTR	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	Homo sapiens AT rich interactive domain 2 (ARID, RFX-like) (ARID2), mRNA.	297					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		AGAAATCTTTCCTTTGAGGAG	0.398000			"""N, S, F"""		hepatocellular carcinoma									68			28		0	0	0.001512	0	0
MS4A6A	64231	broad.mit.edu	37	11	59942973	59942973	+	Silent	SNP	A	G	G			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:59942973A>G	uc010rla.2	-	5	1008	c.535T>C	c.(535-537)Ttg>Ctg	p.L179L	MS4A6A_uc001noq.3_Intron|MS4A6A_uc009ymv.3_Silent_p.L151L|MS4A6A_uc001not.3_Silent_p.L151L|MS4A6A_uc010rlb.2_Silent_p.L106L	NM_001247999	NP_001234928	Q9H2W1	M4A6A_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 6A (MS4A6A), transcript variant 4, mRNA.	151						integral to membrane	receptor activity			endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TTTTTGTCCAACTCACACTGC	0.438000														21			13		0	0	0.00185496	0	0
IBTK	25998	broad.mit.edu	37	6	82924094	82924095	+	Missense_Mutation	DNP	AC	TT	TT			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:82924094_82924095AC>TT	uc003pjl.1	-	11	2580_2581	c.2053_2054GT>AA	c.(2053-2055)gtt>AAt	p.V685N	IBTK_uc011dyv.1_Missense_Mutation_p.V685N|IBTK_uc011dyw.1_Intron|IBTK_uc010kbi.1_Missense_Mutation_p.V379N|IBTK_uc003pjm.2_Missense_Mutation_p.V685N	NM_015525	NP_056340	Q9P2D0	IBTK_HUMAN	Homo sapiens inhibitor of Bruton agammaglobulinemia tyrosine kinase (IBTK), mRNA.	685					negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol	cytoplasm|membrane|nucleus	protein kinase binding|protein tyrosine kinase inhibitor activity			central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	54		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)		BRCA - Breast invasive adenocarcinoma(397;0.0901)		ACTTTTGTAAACTTCAAATGCA	0.332000														78			23		0	0	6.4e-05	0	0
BCL11A	53335	broad.mit.edu	37	2	60688963	60688963	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:60688963G>A	uc002sae.1	-	3	1312	c.1084C>T	c.(1084-1086)Cct>Tct	p.P362S	BCL11A_uc002sab.3_Missense_Mutation_p.P362S|BCL11A_uc002sac.3_Intron|BCL11A_uc010ypi.2_Intron|BCL11A_uc010ypj.2_Missense_Mutation_p.P328S|BCL11A_uc002sad.1_Missense_Mutation_p.P210S|BCL11A_uc002saf.1_Missense_Mutation_p.P328S	NM_022893	NP_075044	Q9H165	BC11A_HUMAN	Homo sapiens B-cell CLL/lymphoma 11A (zinc finger protein) (BCL11A), transcript variant 1, mRNA.	362	Pro-rich.				negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			GATTGCAGAGGAGGGAGGGGG	0.637000			T	IGH@	B-CLL									124			88		0	0	0.00361006	0	0
AK5	26289	broad.mit.edu	37	1	77987620	77987620	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:77987620G>A	uc001dhn.3	+	11	1757	c.1420G>A	c.(1420-1422)Gga>Aga	p.G474R	AK5_uc001dho.3_Missense_Mutation_p.G448R	NM_174858	NP_036225	Q9Y6K8	KAD5_HUMAN	Homo sapiens adenylate kinase 5 (AK5), transcript variant 1, mRNA.	474					ADP biosynthetic process|ATP metabolic process|dADP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine ribonucleotide biosynthetic process|signal transduction	centrosome|cytosol	ATP binding|adenylate kinase activity|cAMP-dependent protein kinase regulator activity|nucleoside kinase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|prostate(1)|skin(2)|stomach(1)	40						GGAAGAGTTCGGACGCAGGGT	0.527000														38			16		0	0	0.000958276	0	0
ANKH	56172	broad.mit.edu	37	5	14751205	14751205	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:14751205G>A	uc003jfm.4	-	4	991	c.660C>T	c.(658-660)atC>atT	p.I220I		NM_054027	NP_473368	Q9HCJ1	ANKH_HUMAN	Homo sapiens ankylosis, progressive homolog (mouse) (ANKH), mRNA.	220					locomotory behavior|regulation of bone mineralization|skeletal system development	integral to plasma membrane|outer membrane	inorganic diphosphate transmembrane transporter activity|inorganic phosphate transmembrane transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						TTCTGTCAGGGATGATGTCGT	0.542000														40			18		0	0	0.000958276	0	0
OR2L3	391192	broad.mit.edu	37	1	248223987	248223987	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:248223987G>A	uc001idx.1	+	0	4	c.4G>A	c.(4-6)Gaa>Aaa	p.E2K	OR2L13_uc001ids.3_Intron	NM_001004687	NP_001004687	Q8NG85	OR2L3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily L, member 3 (OR2L3), mRNA.	2					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			ATGCCCCATGGAAAATTACAA	0.408000														123			52		0	0	0.00361006	0	0
RNPEP	6051	broad.mit.edu	37	1	201972423	201972423	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:201972423C>T	uc001gxd.3	+	8	1514	c.1485C>T	c.(1483-1485)ctC>ctT	p.L495L	RNPEP_uc001gxe.3_Silent_p.L196L	NM_020216	NP_064601	Q9H4A4	AMPB_HUMAN	Homo sapiens arginyl aminopeptidase (aminopeptidase B) (RNPEP), mRNA.	495					leukotriene biosynthetic process		epoxide hydrolase activity|zinc ion binding			breast(1)|endometrium(4)|large_intestine(4)|lung(6)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.005)		TCCCTGATCTCTCCCCTGGGG	0.567000														25			10		0	0	0.000673444	0	0
CYSLTR1	10800	broad.mit.edu	37	X	77529010	77529010	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chrX:77529010G>A	uc022bzh.1	-	0	234	c.234C>T	c.(232-234)ctC>ctT	p.L78L	CYSLTR1_uc004edb.3_Silent_p.L78L|CYSLTR1_uc010nma.3_Silent_p.L78L|CYSLTR1_uc010nmb.3_Silent_p.L78L	NM_006639	NP_006630	Q9Y271	CLTR1_HUMAN	Homo sapiens cysteinyl leukotriene receptor 1 (CYSLTR1), mRNA.	78					elevation of cytosolic calcium ion concentration|respiratory gaseous exchange	integral to plasma membrane|membrane fraction	leukotriene receptor activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14					Amlexanox(DB01025)|Cinalukast(DB00587)|Montelukast(DB00471)|Nedocromil(DB00716)|Pranlukast(DB01411)|Zafirlukast(DB00549)	AGACCACACGGAGAGGCAGTG	0.423000														9			7		0	0	0.000274275	0	0
GPRC5A	9052	broad.mit.edu	37	12	13061655	13061655	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:13061655A>G	uc001rba.3	+	1	1122	c.472A>G	c.(472-474)Aat>Gat	p.N158D		NM_003979	NP_003970	Q8NFJ5	RAI3_HUMAN	Homo sapiens G protein-coupled receptor, family C, group 5, member A (GPRC5A), mRNA.	158						Golgi apparatus|cytoplasmic vesicle membrane|integral to plasma membrane	G-protein coupled receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	18		Prostate(47;0.141)		BRCA - Breast invasive adenocarcinoma(232;0.0708)	Tretinoin(DB00755)	CCTGACCATGAATAGGACCAA	0.517000														145			57		0	0	0.00361006	0	0
NUAK2	81788	broad.mit.edu	37	1	205277745	205277745	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:205277745G>A	uc001hce.3	-	2	595	c.468C>T	c.(466-468)ttC>ttT	p.F156F	NUAK2_uc009xbj.1_Silent_p.F28F	NM_030952	NP_112214	Q9H093	NUAK2_HUMAN	Homo sapiens NUAK family, SNF1-like kinase, 2 (NUAK2), mRNA.	156	Protein kinase.				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)			CGATCTGCCGGAAGAAATGCC	0.572000														30			11		0	0	0.000673444	0	0
OR2Z1	284383	broad.mit.edu	37	19	8841861	8841861	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:8841861C>T	uc010xkg.2	+	0	471	c.471C>T	c.(469-471)tcC>tcT	p.S157S		NM_001004699	NP_001004699	Q8NG97	OR2Z1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily Z, member 1 (OR2Z1), mRNA.	157					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TCAACGCCTCCATCCAGACCT	0.557000														75			33		0	0	0.000953801	0	0
KLK11	11012	broad.mit.edu	37	19	51527411	51527411	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:51527411G>A	uc002pvd.1	-	3	561	c.449C>T	c.(448-450)tCg>tTg	p.S150L	KLK11_uc002pvc.4_Missense_Mutation_p.S118L|KLK11_uc002pve.1_Missense_Mutation_p.S7L|KLK11_uc002pvb.2_Missense_Mutation_p.S143L|KLK11_uc002pvf.1_Missense_Mutation_p.S118L|KLK11_uc010eom.3_3'UTR	NM_144947	NP_006844	Q9UBX7	KLK11_HUMAN	Homo sapiens kallikrein-related peptidase 11 (KLK11), transcript variant 2, mRNA.	150	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00327)|GBM - Glioblastoma multiforme(134;0.00878)		GGAGACTGGCGATGCCATCTT	0.622000														20			5		0	0	0.00116845	0	0
PPL	5493	broad.mit.edu	37	16	4945319	4945319	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr16:4945319C>T	uc002cyd.1	-	10	1275	c.1185G>A	c.(1183-1185)cgG>cgA	p.R395R		NM_002705	NP_002696	O60437	PEPL_HUMAN	Homo sapiens periplakin (PPL), mRNA.	395					keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						GCGGAGTCTCCCGGCGGTACT	0.607000														25			12		0	0	0.00316338	0	0
SORCS3	22986	broad.mit.edu	37	10	106970983	106970983	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr10:106970983G>A	uc001kyi.1	+	16	2577	c.2350G>A	c.(2350-2352)Ggt>Agt	p.G784S	SORCS3_uc010qqz.1_Non-coding_Transcript	NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 3 (SORCS3), mRNA.	784						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		CTGCAGCCTTGGTCAAAGCTA	0.473000														21			6		0	0	0.00198382	0	0
DSP	1832	broad.mit.edu	37	6	7575559	7575559	+	Missense_Mutation	SNP	C	T	T	rs141834182		TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:7575559C>T	uc003mxp.1	+	17	2747	c.2468C>T	c.(2467-2469)tCg>tTg	p.S823L	DSP_uc003mxq.1_Missense_Mutation_p.S823L|DSP_uc021yle.1_Missense_Mutation_p.S823L	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	823	Globular 1.				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)		TTGAAGAAGTCGTTGTTGGCC	0.393000														119			42		0	0	0.00285205	0	0
MICAL1	64780	broad.mit.edu	37	6	109767004	109767004	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:109767004T>A	uc011eaq.2	-	19	2991	c.2700A>T	c.(2698-2700)gaA>gaT	p.E900D	MICAL1_uc003ptj.3_Missense_Mutation_p.E881D|MICAL1_uc003ptk.3_Missense_Mutation_p.E881D|MICAL1_uc010kdr.3_Missense_Mutation_p.E795D	NM_022765	NP_073602	Q8TDZ2	MICA1_HUMAN	Homo sapiens microtubule associated monoxygenase, calponin and LIM domain containing 1 (MICAL1), transcript variant 1, mRNA.	881					cytoskeleton organization|signal transduction	cytoplasm|intermediate filament	SH3 domain binding|zinc ion binding			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)		AAGGCACATCTTCTTCTTCCT	0.537000														15			10		0	0	0.00244969	0	0
GNA11	2767	broad.mit.edu	37	19	3118967	3118967	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:3118967C>T	uc002lxd.3	+	4	893	c.651C>T	c.(649-651)atC>atT	p.I217I	DKFZp434J194_uc010xhe.2_5'Flank	NM_002067	NP_002058	P29992	GNA11_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), alpha 11 (Gq class) (GNA11), mRNA.	217					G-protein signaling, coupled to cAMP nucleotide second messenger|activation of phospholipase C activity by dopamine receptor signaling pathway|platelet activation|protein ADP-ribosylation|regulation of action potential	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)		GGAAGTGGATCCACTGCTTTG	0.617000			Mis		uveal melanoma									50			17		0	0	0.00152264	0	0
RP1L1	94137	broad.mit.edu	37	8	10480452	10480452	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr8:10480452A>G	uc003wtc.3	-	1	489	c.260T>C	c.(259-261)cTg>cCg	p.L87P		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA.	87					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		GAGGCTATGCAGGCCCCGGGG	0.652000														19			8		0	0	0.000442599	0	0
CCDC129	223075	broad.mit.edu	37	7	31691654	31691654	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:31691654G>A	uc011kae.2	+	12	2903	c.2891G>A	c.(2890-2892)gGg>gAg	p.G964E	CCDC129_uc011kad.1_Missense_Mutation_p.G948E|CCDC129_uc003tcj.1_Missense_Mutation_p.G938E|CCDC129_uc003tci.1_Missense_Mutation_p.G789E|CCDC129_uc003tck.1_Missense_Mutation_p.G846E	NM_194300	NP_919276	Q6ZRS4	CC129_HUMAN	Homo sapiens coiled-coil domain containing 129 (CCDC129), mRNA.	938										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						ATCAGAGAAGGGATTTTACTG	0.493000														7			5		0	0	0.000602214	0	0
KCNC3	3748	broad.mit.edu	37	19	50827028	50827028	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:50827028G>A	uc002pru.1	-	1	1477	c.1182C>T	c.(1180-1182)ctC>ctT	p.L394L	KCNC3_uc002prt.1_Silent_p.L30L	NM_004977	NP_004968	Q14003	KCNC3_HUMAN	Homo sapiens potassium voltage-gated channel, Shaw-related subfamily, member 3 (KCNC3), mRNA.	394					cell death	voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(2)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)	13		all_neural(266;0.057)|Ovarian(192;0.208)		OV - Ovarian serous cystadenocarcinoma(262;0.00283)|GBM - Glioblastoma multiforme(134;0.0181)		GGCCCACCTCGAGATAGAAGG	0.587000														27			17		0	0	0.00074312	0	0
GPR98	84059	broad.mit.edu	37	5	89930994	89930994	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:89930994G>A	uc003kju.3	+	9	1999	c.1903G>A	c.(1903-1905)Gaa>Aaa	p.E635K	GPR98_uc003kjt.3_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	635					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TAGATTTGGGGAAATCTGCAA	0.348000														63			23		0	0	0.00188189	0	0
GALR1	2587	broad.mit.edu	37	18	74962745	74962745	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr18:74962745G>A	uc002lms.4	+	0	738	c.241G>A	c.(241-243)Gac>Aac	p.D81N		NM_001480	NP_001471	P47211	GALR1_HUMAN	Homo sapiens galanin receptor 1 (GALR1), mRNA.	81					digestion|negative regulation of adenylate cyclase activity	integral to membrane|plasma membrane	galanin receptor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)		OV - Ovarian serous cystadenocarcinoma(15;1.03e-06)|BRCA - Breast invasive adenocarcinoma(31;0.104)		GAGCATCGCCGACCTGGCCTA	0.627000														48			27		0	0	0.00106085	0	0
HOXA2	3199	broad.mit.edu	37	7	27141067	27141067	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:27141067C>T	uc003syh.3	-	1	684	c.409G>A	c.(409-411)Gat>Aat	p.D137N	HOXA2_uc022aaq.1_3'UTR	NM_006735	NP_006726	O43364	HXA2_HUMAN	Homo sapiens homeobox A2 (HOXA2), mRNA.	137						nucleus	sequence-specific DNA binding transcription factor activity			breast(3)|cervix(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	22						CCGCTGCCATCGGCGATTTCC	0.527000														19			10		0	0	0.00136819	0	0
AADACL2	344752	broad.mit.edu	37	3	151475216	151475216	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:151475216G>A	uc003ezc.3	+	4	1160	c.1040G>A	c.(1039-1041)gGa>gAa	p.G347E	MIR548H2_uc021xgb.1_Intron|AADACL2_uc010hvn.3_Missense_Mutation_p.G134E	NM_207365	NP_997248	Q6P093	ADCL2_HUMAN	Homo sapiens arylacetamide deacetylase-like 2 (AADACL2), mRNA.	347						extracellular region|integral to membrane	carboxylesterase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(13)|skin(2)	24			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			AGAGATGATGGACTTATGTAT	0.378000														61			26		0	0	0.00106085	0	0
FAM75D3	389762	broad.mit.edu	37	9	84562512	84562512	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr9:84562512C>T	uc010mpt.2	+	3	2430	c.2344C>T	c.(2344-2346)Ctc>Ttc	p.L782F	AK097447_uc004ami.1_Intron|DQ577940_uc004amm.1_5'Flank	NM_207416	NP_997299	P0C874	YI039_HUMAN	Homo sapiens family with sequence similarity 75, member D3 (FAM75D3), mRNA.	782						integral to membrane											AAAAAACCATCTCTTGCATGA	0.483000														22			16		0	0	0.000566183	0	0
RNF144A	9781	broad.mit.edu	37	2	7154674	7154674	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:7154674C>T	uc002qys.3	+	3	667	c.225C>T	c.(223-225)caC>caT	p.H75H		NM_014746	NP_055561	P50876	R144A_HUMAN	Homo sapiens ring finger protein 144A (RNF144A), mRNA.	75						Golgi apparatus|integral to membrane	ligase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)	25	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;0.226)		OV - Ovarian serous cystadenocarcinoma(76;0.195)		AACAGGGCCACCTACAGGAGA	0.473000														44			21		0	0	0.00229938	0	0
COL6A3	1293	broad.mit.edu	37	2	238280867	238280867	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:238280867C>T	uc002vwl.2	-	8	4078	c.3793G>A	c.(3793-3795)Ggc>Agc	p.G1265S	COL6A3_uc002vwo.2_Missense_Mutation_p.G1059S|COL6A3_uc010znj.1_Missense_Mutation_p.G658S|COL6A3_uc002vwq.3_Missense_Mutation_p.G1059S|COL6A3_uc002vwr.3_Missense_Mutation_p.G858S	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	1265	Nonhelical region.|VWFA 7.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GTGTCAAAGCCCACGTCCAGG	0.582000														16			8		0	0	0.00307968	0	0
COL6A3	1293	broad.mit.edu	37	2	238303736	238303736	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:238303736G>A	uc002vwl.2	-	2	488	c.203C>T	c.(202-204)tCc>tTc	p.S68F	COL6A3_uc002vwo.2_Intron|COL6A3_uc010znj.1_Intron|COL6A3_uc002vwq.3_Intron|COL6A3_uc002vwr.3_Intron|COL6A3_uc010znk.1_Missense_Mutation_p.S68F	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	68	Nonhelical region.|VWFA 1.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CACAGCTAAGGATTTTACAAC	0.403000														29			15		0	0	0.00316338	0	0
TNXB	7148	broad.mit.edu	37	6	32036257	32036257	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:32036257C>T	uc003nzl.2	-	16	6332	c.6130G>A	c.(6130-6132)Ggc>Agc	p.G2044S		NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	2126					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						GGCTCCAGGCCCGAGATGGTG	0.602000														250			91		0	0	0.00361006	0	0
NOS1	4842	broad.mit.edu	37	12	117691472	117691472	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:117691472A>T	uc001twn.2	-	17	3432	c.2721T>A	c.(2719-2721)ttT>ttA	p.F907L	NOS1_uc021ren.1_Missense_Mutation_p.F537L|NOS1_uc021reo.1_Missense_Mutation_p.F537L|NOS1_uc001twm.2_Missense_Mutation_p.F873L	NM_001204218	NP_001191147	P29475	NOS1_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA.	873	Flavodoxin-like.				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	FMN binding|NADP binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	CAGCACTCTCAAAGTTGTCTC	0.552000														73			26		0	0	0.00127121	0	0
ARHGAP6	395	broad.mit.edu	37	X	11187673	11187673	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chrX:11187673G>A	uc004cup.1	-	8	2634	c.1761C>T	c.(1759-1761)atC>atT	p.I587I	ARHGAP6_uc004cuo.1_Non-coding_Transcript|ARHGAP6_uc004cur.1_Silent_p.I587I|ARHGAP6_uc004cum.1_Silent_p.I384I|ARHGAP6_uc004cun.1_Silent_p.I407I|ARHGAP6_uc010neb.1_Silent_p.I409I|ARHGAP6_uc011mif.1_Silent_p.I384I	NM_013427	NP_038286	O43182	RHG06_HUMAN	Homo sapiens Rho GTPase activating protein 6 (ARHGAP6), transcript variant 1, mRNA.	587	Rho-GAP.				Rho protein signal transduction|actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly	actin filament|cytosol	Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity|phospholipase activator activity|phospholipase binding	p.I587I(4)		cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						CAACAGCGATGATGGCCGTGC	0.493000														21			25		0	0	0.00332997	0	0
UCK1	83549	broad.mit.edu	37	9	134404515	134404515	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr9:134404515C>T	uc004cay.3	-	4	609	c.508_splice	c.e4+1	p.V170_splice	UCK1_uc010mzk.3_Splice_Site_p.V161_splice|UCK1_uc004cba.3_Splice_Site_p.D170_splice|UCK1_uc004caz.3_Splice_Site	NM_031432	NP_113620	Q9HA47	UCK1_HUMAN	Homo sapiens uridine-cytidine kinase 1 (UCK1), transcript variant 1, mRNA.	170					pyrimidine base metabolic process|pyrimidine nucleoside salvage	cytosol	ATP binding|phosphotransferase activity, alcohol group as acceptor|uridine kinase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	6				OV - Ovarian serous cystadenocarcinoma(145;2.34e-05)|Epithelial(140;0.000219)		GCCGCCTTACCTCTTCGAGAC	0.657000														19			18		0	0	0.00188189	0	0
OR5AS1	219447	broad.mit.edu	37	11	55798846	55798846	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:55798846C>T	uc010riw.2	+	0	952	c.952C>T	c.(952-954)Cgt>Tgt	p.R318C		NM_001001921	NP_001001921	Q8N127	O5AS1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AS, member 1 (OR5AS1), mRNA.	318					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					GTATTTAAATCGTTTAAGAAT	0.264000														40			27		0	0	0.000878237	0	0
RPGRIP1L	23322	broad.mit.edu	37	16	53639522	53639522	+	Missense_Mutation	SNP	G	A	A	rs151332923	byFrequency	TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr16:53639522G>A	uc002ehp.3	-	25	3770	c.3706C>T	c.(3706-3708)Cgc>Tgc	p.R1236C	RPGRIP1L_uc002eho.4_Missense_Mutation_p.R1156C|RPGRIP1L_uc010vgy.2_Missense_Mutation_p.R1190C|RPGRIP1L_uc010cbx.3_Missense_Mutation_p.R1202C|RPGRIP1L_uc010vgz.1_Missense_Mutation_p.R1190C	NM_015272	NP_056087	Q68CZ1	FTM_HUMAN	Homo sapiens RPGRIP1-like (RPGRIP1L), transcript variant 1, mRNA.	1236					negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding	p.R1236H(1)		endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				ACGGTGAAGCGAAGGCTGGTA	0.517000														146			15		0	0	0.00316338	0	0
KLHL1	57626	broad.mit.edu	37	13	70293634	70293634	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr13:70293634T>C	uc001vip.3	-	8	2676	c.1882A>G	c.(1882-1884)Aac>Gac	p.N628D	KLHL1_uc010thm.2_Missense_Mutation_p.N567D	NM_020866	NP_065917	Q9NR64	KLHL1_HUMAN	Homo sapiens kelch-like 1 (Drosophila) (KLHL1), mRNA.	628					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	p.W627S(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		GCACACATGTTCCACTTATTT	0.428000														49			23		0	0	0.00278032	0	0
C18orf26	284254	broad.mit.edu	37	18	52262317	52262317	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr18:52262317G>A	uc002lfq.1	+	1	329	c.283G>A	c.(283-285)Gaa>Aaa	p.E95K		NM_173629	NP_775900	Q8N1N2	CR026_HUMAN	Homo sapiens chromosome 18 open reading frame 26 (C18orf26), mRNA.	95						integral to membrane				endometrium(4)|large_intestine(2)|lung(2)|skin(2)|upper_aerodigestive_tract(1)	11				Colorectal(16;0.0193)|READ - Rectum adenocarcinoma(59;0.178)		TCTACAGTCAGAATCCTGTAA	0.433000														84			34		0	0	0.00111076	0	0
ZNF165	7718	broad.mit.edu	37	6	28054062	28054062	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:28054062C>T	uc021yro.1	+	2	1351	c.524C>T	c.(523-525)tCa>tTa	p.S175L	ZNF165_uc003nkh.3_Missense_Mutation_p.S175L|ZNF165_uc003nki.4_Missense_Mutation_p.S175L	NM_003447	NP_003438	P49910	ZN165_HUMAN	Homo sapiens zinc finger protein 165 (ZNF165), mRNA.	175					viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TTTGATTCATCAGAACCCCAG	0.463000														55			17		0	0	0.000958276	0	0
PDE3A	5139	broad.mit.edu	37	12	20799717	20799717	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:20799717G>A	uc001reh.2	+	11	2438	c.2398G>A	c.(2398-2400)Gga>Aga	p.G800R	PDE3A_uc021qwa.1_Missense_Mutation_p.G478R	NM_000921	NP_000912	Q14432	PDE3A_HUMAN	Homo sapiens phosphodiesterase 3A, cGMP-inhibited (PDE3A), transcript variant 1, mRNA.	800	Catalytic (By similarity).				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	TGGACATATGGGATATGTATT	0.378000														83			25		0	0	0.00106085	0	0
AHNAK	79026	broad.mit.edu	37	11	62299704	62299704	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:62299704G>A	uc001ntl.3	-	4	2485	c.2185C>T	c.(2185-2187)Cca>Tca	p.P729S	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.	729					nervous system development	nucleus	protein binding	p.G728C(1)		NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TCCACTTTTGGGCCTTTGAGT	0.468000														106			89		0	0	0.00361006	0	0
FNDC1	84624	broad.mit.edu	37	6	159692442	159692442	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:159692442G>A	uc010kjv.3	+	22	5853	c.5653G>A	c.(5653-5655)Gag>Aag	p.E1885K		NM_032532	NP_115921	Q4ZHG4	FNDC1_HUMAN	Homo sapiens fibronectin type III domain containing 1 (FNDC1), mRNA.	1885						extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		GGGCTGGTACGAGTGTGGGGT	0.577000														11			5		0	0	0.000602214	0	0
ZNF221	7638	broad.mit.edu	37	19	44471131	44471131	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:44471131C>T	uc002oxx.2	+	5	1805	c.1477C>T	c.(1477-1479)Ctt>Ttt	p.L493F	ZNF221_uc010ejb.1_Missense_Mutation_p.L493F|ZNF221_uc010xws.1_Missense_Mutation_p.L493F	NM_013359	NP_037491	Q9UK13	ZN221_HUMAN	Homo sapiens zinc finger protein 221 (ZNF221), mRNA.	493					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(11)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	30		Prostate(69;0.0352)				GGCCTCCTGTCTTTTGAAACA	0.453000														46			20		0	0	0.00229938	0	0
ZNF655	79027	broad.mit.edu	37	7	99169387	99169387	+	Silent	SNP	T	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:99169387T>A	uc010lga.3	+	2	606	c.213T>A	c.(211-213)acT>acA	p.T71T	ZNF655_uc003urh.3_Intron|ZNF655_uc010lgc.3_Silent_p.T71T|ZNF655_uc003urj.3_Intron|ZNF655_uc003urk.3_5'UTR|ZNF655_uc010lgd.3_5'UTR	NM_001083956	NP_001078837	Q8N720	ZN655_HUMAN	Homo sapiens zinc finger protein 655 (ZNF655), transcript variant 7, mRNA.	45					G1 phase|regulation of mitotic cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding|zinc ion binding			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	16	all_epithelial(64;3.19e-09)|Lung NSC(181;0.0066)|all_lung(186;0.011)|Esophageal squamous(72;0.0166)					AAACTAAGACTAGAGAAGTCT	0.428000														9			4		0	0	0.00116845	0	0
DTX3L	151636	broad.mit.edu	37	3	122287933	122287933	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:122287933C>T	uc003efk.3	+	2	1086	c.997C>T	c.(997-999)Ctt>Ttt	p.L333F	DTX3L_uc010hrj.3_Intron|DTX3L_uc021xdb.1_Missense_Mutation_p.L169F	NM_138287	NP_612144	Q8TDB6	DTX3L_HUMAN	Homo sapiens deltex 3-like (Drosophila) (DTX3L), mRNA.	333					histone monoubiquitination|response to DNA damage stimulus	cytoplasm|nucleus	histone binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0459)		TACAAAGCTCCTTATAAAGGA	0.398000														126			44		0	0	0.00321405	0	0
MYOCD	93649	broad.mit.edu	37	17	12666750	12666750	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr17:12666750C>T	uc002gno.2	+	13	3049	c.2750C>T	c.(2749-2751)tCa>tTa	p.S917L	MYOCD_uc002gnn.2_Missense_Mutation_p.S869L|MYOCD_uc002gnq.2_Missense_Mutation_p.S593L	NM_001146312	NP_001139784	Q8IZQ8	MYCD_HUMAN	Homo sapiens myocardin (MYOCD), transcript variant 1, mRNA.	869					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			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)		ACACAGTTTTCACCCTCTTCT	0.522000														23			19		0	0	0.00229938	0	0
NLRP11	204801	broad.mit.edu	37	19	56321612	56321612	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:56321612G>A	uc010ygf.2	-	4	1075	c.364C>T	c.(364-366)Cgt>Tgt	p.R122C	NLRP11_uc002qlz.3_Missense_Mutation_p.R23C|NLRP11_uc002qmb.3_Missense_Mutation_p.R23C|NLRP11_uc002qmc.3_Non-coding_Transcript|NLRP11_uc010ete.1_Non-coding_Transcript	NM_145007	NP_659444	P59045	NAL11_HUMAN	Homo sapiens NLR family, pyrin domain containing 11 (NLRP11), mRNA.	122							ATP binding	p.R122C(2)|p.R122H(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		GAAACGTCACGAAAAAATTTA	0.383000														33			11		0	0	0.000978159	0	0
ATAD5	79915	broad.mit.edu	37	17	29219749	29219749	+	Silent	SNP	C	T	T	rs144014973		TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr17:29219749C>T	uc002hfs.1	+	19	4726	c.4383C>T	c.(4381-4383)acC>acT	p.T1461T		NM_024857	NP_079133	Q96QE3	ATAD5_HUMAN	Homo sapiens ATPase family, AAA domain containing 5 (ATAD5), mRNA.	1461					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)				GTGCTGAGACCTTGTTTGGCC	0.333000														143			108		0	0	0.00361006	0	0
ZNF492	57615	broad.mit.edu	37	19	22846700	22846700	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:22846700G>A	uc002nqw.3	+	3	473	c.229G>A	c.(229-231)Gaa>Aaa	p.E77K		NM_020855	NP_065906	Q9P255	ZN492_HUMAN	Homo sapiens zinc finger protein 492 (ZNF492), mRNA.	77					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E77K(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)				ATGTGGATGTGAAAATTTACA	0.348000														27			11		0	0	0.000978159	0	0
SHISA4	149345	broad.mit.edu	37	1	201860616	201860616	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:201860616C>T	uc001gxa.3	+	3	785	c.467C>T	c.(466-468)cCt>cTt	p.P156L	SHISA4_uc021phk.1_Non-coding_Transcript	NM_198149	NP_937792	Q96DD7	SHSA4_HUMAN	Homo sapiens shisa homolog 4 (Xenopus laevis) (SHISA4), transcript variant 1, mRNA.	156	Pro-rich.					integral to membrane				kidney(1)|lung(4)	5						CCCCCACAGCCTGGCTTCATA	0.587000														52			21		0	0	0.00229938	0	0
RELN	5649	broad.mit.edu	37	7	103301971	103301971	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:103301971C>T	uc022ajr.1	-	11	1453	c.1293G>A	c.(1291-1293)tgG>tgA	p.W431*	RELN_uc022ajq.1_Nonsense_Mutation_p.W431*|RELN_uc010liz.3_Nonsense_Mutation_p.W431*	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	431					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CCAAGACATCCCATCTAAAAA	0.358000														23			10		0	0	0.000673444	0	0
KCNA1	3736	broad.mit.edu	37	12	5021586	5021586	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:5021586G>A	uc001qnh.3	+	1	2147	c.1042G>A	c.(1042-1044)Gag>Aag	p.E348K	KCNA1_uc021qts.1_Missense_Mutation_p.E348K	NM_000217	NP_000208	Q09470	KCNA1_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia) (KCNA1), mRNA.	348					synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity			NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	GTACTTTGCCGAGGCGGAAGA	0.537000														71			36		0	0	0.00128727	0	0
CYP4F12	66002	broad.mit.edu	37	19	15795991	15795991	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:15795991C>T	uc002nbl.3	+	8	1218	c.1099C>T	c.(1099-1101)Cct>Tct	p.P367S		NM_023944	NP_076433			Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 12 (CYP4F12), mRNA.											NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)					GGACCGCGATCCTAAAGAGAT	0.562000														67			23		0	0	0.00209593	0	0
TNXB	7148	broad.mit.edu	37	6	32041670	32041670	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:32041670C>T	uc003nzl.2	-	11	4637	c.4435G>A	c.(4435-4437)Gag>Aag	p.E1479K		NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	1566	Fibronectin type-III 7.				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						ACTGTCAGCTCTCCTAGGCGT	0.582000														316			101		0	0	0.00361006	0	0
GALNT14	79623	broad.mit.edu	37	2	31147628	31147628	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:31147628C>T	uc002rns.3	-	12	1868	c.1228G>A	c.(1228-1230)Gag>Aag	p.E410K	GALNT14_uc002rnq.3_Missense_Mutation_p.E385K|GALNT14_uc010ymr.2_Missense_Mutation_p.E370K|GALNT14_uc002rnr.3_Missense_Mutation_p.E405K|GALNT14_uc010ezo.2_Missense_Mutation_p.E372K	NM_001253826	NP_001240755	Q96FL9	GLT14_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14) (GALNT14), transcript variant 2, mRNA.	405						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					TAGATATTCTCCAGGTACCAC	0.532000														38			11		0	0	0.00316338	0	0
USP28	57646	broad.mit.edu	37	11	113672276	113672276	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:113672276G>A	uc001poh.3	-	23	3020	c.2987C>T	c.(2986-2988)tCc>tTc	p.S996F	USP28_uc001pog.3_Missense_Mutation_p.S672F|USP28_uc010rwy.2_Missense_Mutation_p.S839F|USP28_uc001poi.3_Missense_Mutation_p.S319F	NM_020886	NP_065937	Q96RU2	UBP28_HUMAN	Homo sapiens ubiquitin specific peptidase 28 (USP28), mRNA.	996					DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|cell proliferation|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		ATCATCCTTGGAAATGTCATT	0.388000														23			18		0	0	0.00152264	0	0
NLRP1	22861	broad.mit.edu	37	17	5462527	5462527	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr17:5462527C>T	uc002gci.3	-	3	2044	c.1489G>A	c.(1489-1491)Gaa>Aaa	p.E497K	NLRP1_uc002gcg.1_Missense_Mutation_p.E497K|NLRP1_uc002gch.4_Missense_Mutation_p.E497K|NLRP1_uc002gck.3_Missense_Mutation_p.E497K|NLRP1_uc002gcj.3_Missense_Mutation_p.E497K|NLRP1_uc002gcl.3_Missense_Mutation_p.E497K|NLRP1_uc010clh.3_Missense_Mutation_p.E497K	NM_033004	NP_127497	Q9C000	NALP1_HUMAN	Homo sapiens NLR family, pyrin domain containing 1 (NLRP1), transcript variant 1, mRNA.	497	NACHT.				defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	NALP1 inflammasome complex|cytoplasm|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				GCTTGCCTTTCATCTGTGAAA	0.507000														35			31		0	0	0.00375469	0	0
FLNB	2317	broad.mit.edu	37	3	58141800	58141800	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:58141800C>T	uc003djj.2	+	40	7051	c.6886C>T	c.(6886-6888)Cag>Tag	p.Q2296*	FLNB_uc010hne.2_Nonsense_Mutation_p.Q2327*|FLNB_uc003djk.2_Nonsense_Mutation_p.Q2285*|FLNB_uc010hnf.2_Nonsense_Mutation_p.Q2272*|FLNB_uc003djl.2_Nonsense_Mutation_p.Q2116*|FLNB_uc003djm.2_Nonsense_Mutation_p.Q2103*	NM_001457	NP_001448	O75369	FLNB_HUMAN	Homo sapiens filamin B, beta (FLNB), transcript variant 2, mRNA.	2296	Interaction with INPPL1.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		TATGAGCCTTCAGGTGAGATG	0.602000														20			8		0	0	0.00307968	0	0
PCDH11X	27328	broad.mit.edu	37	X	91090803	91090803	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chrX:91090803C>T	uc004efk.2	+	0	1145	c.300C>T	c.(298-300)atC>atT	p.I100I	PCDH11X_uc004efl.2_Silent_p.I100I|PCDH11X_uc010nmv.2_Silent_p.I100I|PCDH11X_uc004efm.2_Silent_p.I100I|PCDH11X_uc004efn.2_Silent_p.I100I|PCDH11X_uc004efo.2_Silent_p.I100I|PCDH11X_uc004efh.2_Silent_p.I100I|PCDH11X_uc004efj.1_Silent_p.I100I	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN	Homo sapiens protocadherin 11 X-linked (PCDH11X), transcript variant c, mRNA.	100	Cadherin 1.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						GTGCTGGTATCCCAAGGGATG	0.418000														36			63		0	0	0.00361006	0	0
BC024173	0	broad.mit.edu	37	21	15399841	15399842	+	RNA	DNP	CC	TT	TT	rs13047459	by1000genomes	TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr21:15399841_15399842CC>TT	uc002yjk.3	+	0		c.100_101CC>TT			BC024173_uc002yjl.3_Non-coding_Transcript					Homo sapiens, clone IMAGE:4102980, mRNA.																		TTCTGCCACTCCCTCCGTCGCT	0.579000														21			9		0	0	6.4e-05	0	0
DRGX	644168	broad.mit.edu	37	10	50594600	50594600	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr10:50594600G>A	uc010qgq.2	-	4	465	c.465C>T	c.(463-465)ttC>ttT	p.F155F	DRGX_uc021pqd.1_Silent_p.F150F	NM_001080520	NP_001073989	C9JW76	C9JW76_HUMAN	Homo sapiens dorsal root ganglia homeobox (DRGX), mRNA.	155					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						AGCAGGAGGGGAAGAAAGGCC	0.622000														3			6		0	0	0.00198382	0	0
KITLG	4254	broad.mit.edu	37	12	88939543	88939543	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:88939543C>T	uc001tav.3	-	1	310	c.115G>A	c.(115-117)Gac>Aac	p.D39N	KITLG_uc001taw.3_Missense_Mutation_p.D39N	NM_000899	NP_000890	P21583	SCF_HUMAN	Homo sapiens KIT ligand (KITLG), transcript variant b, mRNA.	39					cell adhesion|cell proliferation|hemopoiesis|male gonad development|positive regulation of DNA replication|signal transduction	cytoplasm|cytoskeleton|integral to membrane|plasma membrane	growth factor activity|identical protein binding|stem cell factor receptor binding			kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1)	9						TTAGTGACGTCTTTTACATTA	0.378000									Testicular Cancer, Familial Clustering of					31			10		0	0	0.00136819	0	0
ZSWIM2	151112	broad.mit.edu	37	2	187693211	187693211	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:187693211C>T	uc002upu.1	-	8	1442	c.1402G>A	c.(1402-1404)Gat>Aat	p.D468N		NM_182521	NP_872327	Q8NEG5	ZSWM2_HUMAN	Homo sapiens zinc finger, SWIM-type containing 2 (ZSWIM2), mRNA.	468					apoptosis		zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			CATAGATTATCTATTGTTGTA	0.289000														52			19		0	0	0.00229938	0	0
ATXN7L2	127002	broad.mit.edu	37	1	110030320	110030320	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:110030320C>T	uc001dxr.3	+	4	609	c.594C>T	c.(592-594)atC>atT	p.I198I	ATXN7L2_uc001dxs.3_5'Flank	NM_153340	NP_699171	Q5T6C5	AT7L2_HUMAN	Homo sapiens ataxin 7-like 2 (ATXN7L2), mRNA.	198								p.I198I(2)		breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)	17		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)		Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228)		GAGAGAACATCGAGATCATCC	0.602000														204			221		0	0	0.00361006	0	0
CSF2RB	1439	broad.mit.edu	37	22	37326802	37326802	+	Silent	SNP	G	A	A	rs138918081		TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr22:37326802G>A	uc003aqa.4	+	7	1159	c.942G>A	c.(940-942)gcG>gcA	p.A314A	CSF2RB_uc003aqc.4_Silent_p.A320A	NM_000395	NP_000386	P32927	IL3RB_HUMAN	Homo sapiens colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage) (CSF2RB), mRNA.	314					respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	CCGACCCCGCGACCCACGGCC	0.612000														32			19		0	0	0.00229938	0	0
KIF26B	55083	broad.mit.edu	37	1	245848730	245848730	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:245848730G>A	uc001ibf.1	+	11	2885	c.2445G>A	c.(2443-2445)ggG>ggA	p.G815G	KIF26B_uc001ibg.1_Silent_p.G433G|KIF26B_uc001ibh.1_Silent_p.G57G	NM_018012	NP_060482	Q2KJY2	KI26B_HUMAN	Homo sapiens kinesin family member 26B (KIF26B), mRNA.	815					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			CGTCCGGCGGGGAGAGCTCCT	0.647000														8			4		0	0	0.00024832	0	0
KCNJ4	3761	broad.mit.edu	37	22	38823739	38823739	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr22:38823739C>T	uc003avs.1	-	1	496	c.399G>A	c.(397-399)acG>acA	p.T133T	KCNJ4_uc003avt.1_Silent_p.T133T|KCNJ4_uc021wpp.1_Silent_p.T133T	NM_004981	NP_690607	P48050	IRK4_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 4 (KCNJ4), transcript variant 2, mRNA.	133					synaptic transmission	basolateral plasma membrane|voltage-gated potassium channel complex	PDZ domain binding|inward rectifier potassium channel activity			endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23	Melanoma(58;0.0286)					AGCCGATGGTCGTCTGCGTCT	0.657000														60			20		0	0	0.00395357	0	0
BNC2	54796	broad.mit.edu	37	9	16437449	16437449	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr9:16437449A>T	uc003zml.3	-	5	883	c.743T>A	c.(742-744)tTt>tAt	p.F248Y	BNC2_uc011lmw.2_Missense_Mutation_p.F153Y|BNC2_uc003zmm.3_Missense_Mutation_p.F206Y|BNC2_uc003zmq.1_Missense_Mutation_p.F262Y|BNC2_uc003zmr.1_Missense_Mutation_p.F285Y|BNC2_uc003zmp.1_Missense_Mutation_p.F276Y|BNC2_uc010mij.1_Missense_Mutation_p.F170Y|BNC2_uc011lmv.2_Missense_Mutation_p.F74Y|BNC2_uc003zmo.1_Missense_Mutation_p.F170Y|BNC2_uc003zmj.3_Missense_Mutation_p.F13Y|BNC2_uc003zmk.3_Non-coding_Transcript|BNC2_uc003zmi.3_Missense_Mutation_p.F13Y|BNC2_uc003zmn.1_Missense_Mutation_p.F13Y	NM_017637	NP_060107	Q6ZN30	BNC2_HUMAN	Homo sapiens basonuclin 2 (BNC2), mRNA.	248					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		AAACCGCAGAAACTGCTGAAG	0.502000														27			18		0	0	0.00074312	0	0
CSMD3	114788	broad.mit.edu	37	8	113402921	113402921	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr8:113402921A>T	uc003ynu.3	-	35	6065	c.5906T>A	c.(5905-5907)aTc>aAc	p.I1969N	CSMD3_uc003yns.3_Missense_Mutation_p.I1171N|CSMD3_uc003ynt.3_Missense_Mutation_p.I1929N|CSMD3_uc011lhx.2_Missense_Mutation_p.I1865N	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	1969	CUB 11.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TGGCACTGTGATCTTCCACAC	0.393000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				36			19		0	0	0.00278032	0	0
NME8	51314	broad.mit.edu	37	7	37907434	37907434	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:37907434G>A	uc003tfn.3	+	10	1124	c.752G>A	c.(751-753)cGa>cAa	p.R251Q		NM_016616	NP_057700	Q8N427	TXND3_HUMAN	Homo sapiens thioredoxin domain containing 3 (spermatozoa) (TXNDC3), mRNA.	251	NDK 1.				CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process|cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity										CCTAACGAACGATCTGAGGAT	0.443000														27			8		0	0	0.000274275	0	0
CKAP2	26586	broad.mit.edu	37	13	53049131	53049131	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr13:53049131C>T	uc001vgv.2	+	8	2104	c.1907C>T	c.(1906-1908)tCt>tTt	p.S636F	CKAP2_uc001vgu.2_Missense_Mutation_p.S635F|CKAP2_uc010tha.1_Missense_Mutation_p.S587F	NM_001098525	NP_001091995	Q8WWK9	CKAP2_HUMAN	Homo sapiens cytoskeleton associated protein 2 (CKAP2), transcript variant 2, mRNA.	636					apoptosis|cell cycle	centrosome|microtubule|spindle pole				breast(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(3)|skin(1)|urinary_tract(1)	20		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.6e-08)		GAGAAAACTTCTAAATTGCCA	0.393000														42			24		0	0	0.000720815	0	0
SEC16B	89866	broad.mit.edu	37	1	177911163	177911164	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:177911163_177911164GG>AA	uc001glj.1	-	20	2762_2763	c.1896_1897CC>TT	c.(1894-1899)ctcctt>ctTTtt	p.L633F	SEC16B_uc001glk.1_Missense_Mutation_p.L309F|SEC16B_uc009wwy.1_Missense_Mutation_p.L187F|SEC16B_uc001glh.1_Missense_Mutation_p.L291F|SEC16B_uc001gli.1_Missense_Mutation_p.L632F|SEC16B_uc009wwz.1_Missense_Mutation_p.L291F	NM_033127	NP_149118	Q96JE7	SC16B_HUMAN	Homo sapiens SEC16 homolog B (S. cerevisiae) (SEC16B), mRNA.	632					protein transport|vesicle-mediated transport	Golgi membrane|endoplasmic reticulum membrane				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						GAAGCATAAAGGAGCTTATACA	0.495000														14			5		0	0	6.4e-05	0	0
DDX17	10521	broad.mit.edu	37	22	38881966	38881966	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr22:38881966G>A	uc003avy.4	-	12	2273	c.2170C>T	c.(2170-2172)Ccc>Tcc	p.P724S	DDX17_uc003avw.4_Missense_Mutation_p.P176S|DDX17_uc003avx.4_Missense_Mutation_p.P722S	NM_001098504	NP_001091974	Q92841	DDX17_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 17 (DDX17), transcript variant 3, mRNA.	643					RNA processing	nucleus	ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|RNA-dependent ATPase activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	25	Melanoma(58;0.0286)					ggaggagggggaggaggagga	0.478000														33			23		0	0	0.00332997	0	0
ALS2	57679	broad.mit.edu	37	2	202622460	202622460	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:202622460G>A	uc002uyo.3	-	4	1492	c.1136C>T	c.(1135-1137)cCt>cTt	p.P379L	ALS2_uc002uyp.4_Missense_Mutation_p.P379L|ALS2_uc002uyq.3_Missense_Mutation_p.P379L	NM_020919	NP_065970	Q96Q42	ALS2_HUMAN	Homo sapiens amyotrophic lateral sclerosis 2 (juvenile) (ALS2), transcript variant 1, mRNA.	379					cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity|protein homodimerization activity|protein serine/threonine kinase activator activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						GTGGAGATTAGGAATTGCTTC	0.393000														36			11		0	0	0.00136819	0	0
LPAR1	1902	broad.mit.edu	37	9	113703937	113703937	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr9:113703937C>T	uc011lwo.2	-	1	562	c.560G>A	c.(559-561)tGg>tAg	p.W187*	LPAR1_uc004bfa.3_Nonsense_Mutation_p.W186*|LPAR1_uc011lwm.2_Nonsense_Mutation_p.W187*|LPAR1_uc004bfc.3_Nonsense_Mutation_p.W186*|LPAR1_uc011lwn.2_Nonsense_Mutation_p.W168*|LPAR1_uc004bfb.3_Nonsense_Mutation_p.W186*|LPAR1_uc010mub.3_Nonsense_Mutation_p.W186*	NM_057159	NP_476500	Q92633	LPAR1_HUMAN	Homo sapiens lysophosphatidic acid receptor 1 (LPAR1), transcript variant 2, mRNA.	186					positive regulation of I-kappaB kinase/NF-kappaB cascade	cell surface|integral to plasma membrane				breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(6)|skin(1)	21						GATACAGTTCCAGCCCACACT	0.493000														58			63		0	0	0.00361006	0	0
GLRB	2743	broad.mit.edu	37	4	158057999	158057999	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr4:158057999C>T	uc003ipj.2	+	5	773	c.571C>T	c.(571-573)Ccc>Tcc	p.P191S	GLRB_uc021xtp.1_Missense_Mutation_p.P191S|GLRB_uc021xtq.1_Missense_Mutation_p.P191S	NM_000824	NP_001159532	P48167	GLRB_HUMAN	Homo sapiens glycine receptor, beta (GLRB), transcript variant 1, mRNA.	191					nervous system development|neuropeptide signaling pathway|startle response	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|protein binding|receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1)	27	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	Glycine(DB00145)	GACATTGTTTCCCATGGATAC	0.348000														38			21		0	0	0.00229938	0	0
KIAA1549	57670	broad.mit.edu	37	7	138522763	138522763	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:138522763G>A	uc011kql.2	-	19	5790	c.5741C>T	c.(5740-5742)tCc>tTc	p.S1914F	KIAA1549_uc011kqi.2_Missense_Mutation_p.S682F|KIAA1549_uc011kqk.2_Missense_Mutation_p.S698F|KIAA1549_uc011kqj.2_Missense_Mutation_p.S1898F	NM_001164665	NP_001158137	Q9HCM3	K1549_HUMAN	Homo sapiens KIAA1549 (KIAA1549), transcript variant 2, mRNA.	1914						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						GTCTTCCGTGGAGCTGGTGGG	0.647000			O	BRAF	pilocytic astrocytoma									3			7		0	0	0.00307968	0	0
ZNF703	80139	broad.mit.edu	37	8	37556185	37556185	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr8:37556185A>G	uc003xjy.1	+	1	1963	c.1766A>G	c.(1765-1767)tAc>tGc	p.Y589C		NM_025069	NP_079345	Q9H7S9	ZN703_HUMAN	Homo sapiens zinc finger protein 703 (ZNF703), mRNA.	589					adherens junction assembly|mammary gland epithelial cell differentiation|negative regulation of homotypic cell-cell adhesion|negative regulation of transcription, DNA-dependent|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of mammary gland epithelial cell proliferation|regulation of canonical Wnt receptor signaling pathway|regulation of cell cycle|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding		FGFR1/ZNF703(2)	breast(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(1)|pancreas(1)	7			BRCA - Breast invasive adenocarcinoma(5;7.93e-25)|LUSC - Lung squamous cell carcinoma(8;1.05e-09)			GCGCTGGGATACCAGTAACTA	0.662000														21			4		0	0	0.00024832	0	0
MORC1	27136	broad.mit.edu	37	3	108703568	108703568	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:108703568C>T	uc003dxl.3	-	22	2406	c.2319G>A	c.(2317-2319)tgG>tgA	p.W773*	MORC1_uc011bhn.2_Nonsense_Mutation_p.W752*	NM_014429	NP_055244	Q86VD1	MORC1_HUMAN	Homo sapiens MORC family CW-type zinc finger 1 (MORC1), mRNA.	773					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						CTCACCTTTTCCAGCTAGGTA	0.333000														27			7		0	0	0.00198382	0	0
ZNF710	374655	broad.mit.edu	37	15	90610515	90610516	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr15:90610515_90610516CC>TT	uc002bov.2	+	1	269_270	c.146_147CC>TT	c.(145-147)ccc>cTT	p.P49L		NM_198526	NP_940928	Q8N1W2	ZN710_HUMAN	Homo sapiens zinc finger protein 710 (ZNF710), mRNA.	49					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(1)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	19	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.00769)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.129)			GACCTGGGGCCCGAGCTTTCAG	0.673000														5			16		0	0	6.4e-05	0	0
DNAH17	8632	broad.mit.edu	37	17	76423027	76423027	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr17:76423027C>T	uc010dhp.2	-	77	12876	c.12751G>A	c.(12751-12753)Gag>Aag	p.E4251K	DNAH17_uc002jvq.3_Missense_Mutation_p.E536K|DNAH17_uc002jvs.3_Non-coding_Transcript	NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			AGGTTCAGCTCCTTGAGCGAA	0.572000														9			6		0	0	0.00307968	0	0
SIM1	6492	broad.mit.edu	37	6	100838545	100838545	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:100838545G>A	uc003pqj.4	-	10	2460	c.1993C>T	c.(1993-1995)Cgc>Tgc	p.R665C	SIM1_uc021zdg.1_Missense_Mutation_p.R665C|SIM1_uc010kcu.3_Missense_Mutation_p.R665C	NM_005068	NP_005059	P81133	SIM1_HUMAN	Homo sapiens single-minded homolog 1 (Drosophila) (SIM1), mRNA.	665	Single-minded C-terminal.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	p.R665R(1)		breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		TTTGAAATGCGATCCGAATTG	0.458000														92			37		0	0	0.00128727	0	0
DRG1	4733	broad.mit.edu	37	22	31829903	31829903	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr22:31829903G>A	uc003aku.3	+	8	1181	c.1050G>A	c.(1048-1050)gtG>gtA	p.V350V	AK074476_uc003akv.1_5'Flank	NM_004147	NP_004138	Q9Y295	DRG1_HUMAN	Homo sapiens developmentally regulated GTP binding protein 1 (DRG1), mRNA.	350					multicellular organismal development|transcription, DNA-dependent	cytoplasm|intermediate filament cytoskeleton|nucleus	GTP binding|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|urinary_tract(1)	11						CTCAGAAAGTGGGTAAAGACC	0.463000														60			23		0	0	0.000878237	0	0
MAD1L1	8379	broad.mit.edu	37	7	2108855	2108855	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:2108855G>A	uc003slh.1	-	11	1458	c.1192C>T	c.(1192-1194)Cag>Tag	p.Q398*	MAD1L1_uc003sle.1_Nonsense_Mutation_p.Q127*|MAD1L1_uc003slf.1_Nonsense_Mutation_p.Q398*|MAD1L1_uc003slg.1_Nonsense_Mutation_p.Q398*|MAD1L1_uc010ksh.1_Nonsense_Mutation_p.Q398*|MAD1L1_uc003sli.1_Nonsense_Mutation_p.Q306*|MAD1L1_uc010ksi.1_Nonsense_Mutation_p.Q351*|MAD1L1_uc010ksj.3_Nonsense_Mutation_p.Q398*	NM_001013836	NP_003541	Q9Y6D9	MD1L1_HUMAN	Homo sapiens MAD1 mitotic arrest deficient-like 1 (yeast) (MAD1L1), transcript variant 2, mRNA.	398	Necessary for interaction with NEK2.				cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase|mitotic prometaphase|mitotic telophase	actin cytoskeleton|centrosome|condensed chromosome kinetochore|cytosol|mitochondrion|nucleus|spindle	protein binding			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(5)	36		Ovarian(82;0.0272)		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)		ACCCGTTTCTGGAGCCTCCGG	0.632000														44			24		0	0	0.00178596	0	0
AVPR1B	553	broad.mit.edu	37	1	206225064	206225064	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:206225064C>T	uc001hds.2	+	0	782	c.624C>T	c.(622-624)ttC>ttT	p.F208F		NM_000707	NP_000698	P47901	V1BR_HUMAN	Homo sapiens arginine vasopressin receptor 1B (AVPR1B), mRNA.	208					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity	p.F208F(2)		breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)|skin(2)	20			BRCA - Breast invasive adenocarcinoma(75;0.0312)		Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067)	TGGCTATCTTCGTTCTGCCGG	0.612000														37			30		0	0	0.001512	0	0
LLGL1	3996	broad.mit.edu	37	17	18140908	18140908	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr17:18140908C>T	uc002gsp.3	+	13	1786	c.1725C>T	c.(1723-1725)agC>agT	p.S575S		NM_004140	NP_004131	Q15334	L2GL1_HUMAN	Homo sapiens lethal giant larvae homolog 1 (Drosophila) (LLGL1), mRNA.	575					cortical actin cytoskeleton organization|exocytosis|protein complex assembly	cortical actin cytoskeleton	protein kinase binding|structural molecule activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_neural(463;0.228)					AGCGGCTGAGCCCACGCACGG	0.677000														8			9		0	0	0.000978159	0	0
KLF7	8609	broad.mit.edu	37	2	207953206	207953206	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:207953206G>A	uc002vbz.1	-	2	1155	c.833C>T	c.(832-834)cCc>cTc	p.P278L	KLF7_uc002vca.1_Missense_Mutation_p.P211S|KLF7_uc010zix.1_Missense_Mutation_p.P250L	NM_003709	NP_003700	O75840	KLF7_HUMAN	Homo sapiens Kruppel-like factor 7 (ubiquitous) (KLF7), mRNA.	278					regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|large_intestine(3)|liver(1)|lung(4)|skin(1)	11				LUSC - Lung squamous cell carcinoma(261;0.0856)|Lung(261;0.166)|Epithelial(149;0.173)		GCATTTGAAGGGCTTTGCACC	0.537000														70			25		0	0	0.00395357	0	0
LOC283914	283914	broad.mit.edu	37	16	34624169	34624169	+	RNA	SNP	G	C	C			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr16:34624169G>C	uc002edw.3	+	8		c.2015G>C			LOC283914_uc010vgc.1_Intron					Homo sapiens uncharacterized LOC283914 (LOC283914), non-coding RNA.																		CTGCCAGGGTGAATGTGAAAG	0.453000														94			65		0	0	0.00361006	0	0
OR9Q2	219957	broad.mit.edu	37	11	57958068	57958068	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:57958068C>T	uc010rka.2	+	0	163	c.106C>T	c.(106-108)Ctt>Ttt	p.L36F		NM_001005283	NP_001005283	Q8NGE9	OR9Q2_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily Q, member 2 (OR9Q2), mRNA.	36					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(24)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41		Breast(21;0.0589)				GAGTTTCTATCTTGCCACTAT	0.483000														16			16		0	0	0.000958276	0	0
UMODL1	89766	broad.mit.edu	37	21	43510455	43510455	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr21:43510455G>A	uc002zag.1	+	5	838	c.838G>A	c.(838-840)Gaa>Aaa	p.E280K	UMODL1_uc002zad.1_Missense_Mutation_p.E208K|UMODL1_uc002zae.1_Missense_Mutation_p.E208K|UMODL1_uc002zaf.1_Missense_Mutation_p.E280K|UMODL1_uc010gow.1_Missense_Mutation_p.E72K|UMODL1_uc002zai.1_5'UTR|UMODL1_uc010gox.1_Non-coding_Transcript|UMODL1_uc010goy.1_5'UTR|UMODL1_uc002zaj.1_Non-coding_Transcript|UMODL1_uc010goz.1_Intron	NM_173568	NP_001186456	Q5DID0	UROL1_HUMAN	Homo sapiens uromodulin-like 1 (UMODL1), transcript variant 2, mRNA.	280	EGF-like 1; calcium-binding (Potential).					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						CTCTGGAAGGGAACTGTGCGC	0.562000														51			13		0	0	0.00400662	0	0
CLDN16	10686	broad.mit.edu	37	3	190122642	190122642	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:190122642G>A	uc003fsi.3	+	2	767	c.519G>A	c.(517-519)gtG>gtA	p.V173V	CLDN16_uc010hze.3_Intron	NM_006580	NP_006571	Q9Y5I7	CLD16_HUMAN	Homo sapiens claudin 16 (CLDN16), mRNA.	173					calcium-independent cell-cell adhesion|cellular metal ion homeostasis|excretion	integral to membrane|tight junction	identical protein binding|magnesium ion transmembrane transporter activity|structural molecule activity			breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|skin(1)	19	all_cancers(143;3.61e-10)|Ovarian(172;0.0991)		Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.018)		TTGACTGCGTGAAATTCCTCC	0.498000														39			29		0	0	0.00127121	0	0
CSMD3	114788	broad.mit.edu	37	8	114111130	114111130	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr8:114111130G>A	uc003ynu.3	-	4	931	c.772C>T	c.(772-774)Cct>Tct	p.P258S	CSMD3_uc003ynt.3_Missense_Mutation_p.P218S|CSMD3_uc011lhx.2_Missense_Mutation_p.P258S|CSMD3_uc010mcx.1_Missense_Mutation_p.P258S	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	258	CUB 2.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TACTCATTAGGAAAACTAGGG	0.388000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				35			16		0	0	0.00074312	0	0
RPL13AP3	645683	broad.mit.edu	37	14	56233494	56233494	+	RNA	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr14:56233494G>A	uc010aos.3	+	0		c.532G>A								Homo sapiens ribosomal protein L13a pseudogene 3 (RPL13AP3), non-coding RNA.																		CAAGACCCACGGACTCCTGGT	0.537000														11			5		0	0	0.000602214	0	0
PRAMEF10	343071	broad.mit.edu	37	1	12954982	12954982	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:12954982G>A	uc001auo.3	-	2	374	c.301C>T	c.(301-303)Caa>Taa	p.Q101*		NM_001039361	NP_001034450	O60809	PRA10_HUMAN	Homo sapiens PRAME family member 10 (PRAMEF10), mRNA.	101										NS(2)|breast(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	12	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TCCAGCACTTGAAGTTTCCAC	0.527000														37			47		0	0	0.00361006	0	0
POM121L12	285877	broad.mit.edu	37	7	53104076	53104076	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:53104076C>T	uc003tpz.3	+	0	728	c.712C>T	c.(712-714)Ccg>Tcg	p.P238S		NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN	Homo sapiens POM121 membrane glycoprotein-like 12 (POM121L12), mRNA.	238										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						GCCTCTGAAGCCGAGCCTCGG	0.657000														26			13		0	0	0.00185496	0	0
COL5A2	1290	broad.mit.edu	37	2	189931166	189931166	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:189931166G>A	uc002uqk.3	-	22	1788	c.1513C>T	c.(1513-1515)Ccc>Tcc	p.P505S	COL5A2_uc010frx.3_Intron	NM_000393	NP_000384	P05997	CO5A2_HUMAN	Homo sapiens collagen, type V, alpha 2 (COL5A2), mRNA.	505					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			TCACCTCTGGGACCTCTTTTG	0.483000														122			77		0	0	0.00361006	0	0
CNTRL	11064	broad.mit.edu	37	9	123886359	123886359	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr9:123886359G>A	uc004bkx.1	+	10	1832	c.1801G>A	c.(1801-1803)Gaa>Aaa	p.E601K	CNTRL_uc004bky.1_Missense_Mutation_p.E205K|CNTRL_uc004bkz.1_Missense_Mutation_p.E49K|CNTRL_uc004bla.1_Missense_Mutation_p.E49K	NM_007018	NP_008949	Q7Z7A1	CNTRL_HUMAN	Homo sapiens centriolin (CNTRL), mRNA.	601					G2/M transition of mitotic cell cycle|cell division	centrosome|cytosol	protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						ACAGCTTACTGAAGGTAAGAC	0.348000														71			31		0	0	0.0024448	0	0
KRT77	374454	broad.mit.edu	37	12	53096888	53096888	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:53096888C>T	uc001saw.3	-	0	360	c.331G>A	c.(331-333)Ggt>Agt	p.G111S	KRT77_uc009zmi.3_5'UTR	NM_175078	NP_778253	Q7Z794	K2C1B_HUMAN	Homo sapiens keratin 77 (KRT77), mRNA.	111	Head.					keratin filament	structural molecule activity			NS(2)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						CCCCCAAAACCACCTCCTCCA	0.592000														30			13		0	0	0.00136819	0	0
SPAM1	6677	broad.mit.edu	37	7	123594221	123594221	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:123594221C>T	uc003vle.3	+	2	1036	c.597C>T	c.(595-597)ttC>ttT	p.F199F	SPAM1_uc011koa.1_5'Flank|SPAM1_uc003vld.3_Silent_p.F199F|SPAM1_uc022aks.1_Silent_p.F199F|SPAM1_uc003vlf.4_Silent_p.F199F|SPAM1_uc010lku.3_Silent_p.F199F	NM_003117	NP_003108	P38567	HYALP_HUMAN	Homo sapiens sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding) (SPAM1), transcript variant 1, mRNA.	199					binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity			breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46					Hyaluronidase(DB00070)	GGAAGGATTTCCTGGTAGAGA	0.383000														39			12		0	0	0.00185496	0	0
SLC27A2	11001	broad.mit.edu	37	15	50528280	50528281	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr15:50528280_50528281CC>TT	uc001zxw.3	+	9	2082_2083	c.1850_1851CC>TT	c.(1849-1851)acc>aTT	p.T617I	SLC27A2_uc010bes.3_Missense_Mutation_p.T564I|SLC27A2_uc001zxx.3_Missense_Mutation_p.T382I	NM_003645	NP_003636	O14975	S27A2_HUMAN	Homo sapiens solute carrier family 27 (fatty acid transporter), member 2 (SLC27A2), transcript variant 1, mRNA.	617					bile acid biosynthetic process|fatty acid alpha-oxidation	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity|phytanate-CoA ligase activity|pristanate-CoA ligase activity			NS(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_lung(180;0.00177)		all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113)		AGTGCTAAAACCCTGAAACTCT	0.376000														26			23		0	0	6.4e-05	0	0
CPSF7	79869	broad.mit.edu	37	11	61183697	61183697	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:61183697G>A	uc001nrq.3	-	5	979	c.845C>T	c.(844-846)cCt>cTt	p.P282L	CPSF7_uc001nrp.3_Missense_Mutation_p.P325L|CPSF7_uc001nrr.3_Missense_Mutation_p.P273L|CPSF7_uc001nrs.1_Missense_Mutation_p.P183L	NM_001136040	NP_001129512	Q8N684	CPSF7_HUMAN	Homo sapiens cleavage and polyadenylation specific factor 7, 59kDa (CPSF7), transcript variant 2, mRNA.	282	Pro-rich.				mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription	mRNA cleavage factor complex	RNA binding|nucleotide binding|protein binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	22						GATGGCCCCAGGGGGAGGTAC	0.592000														19			14		0	0	0.00316338	0	0
FOXJ2	55810	broad.mit.edu	37	12	8192620	8192620	+	Silent	SNP	C	T	T	rs148966560		TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:8192620C>T	uc001qtu.3	+	1	1277	c.192C>T	c.(190-192)gaC>gaT	p.D64D	FOXJ2_uc001qtt.1_Silent_p.D64D	NM_018416	NP_060886	Q9P0K8	FOXJ2_HUMAN	Homo sapiens forkhead box J2 (FOXJ2), mRNA.	64					embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	nucleolus|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding			autonomic_ganglia(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	16				Kidney(36;0.0944)		TGCACCAGGACGGCAAGCCAC	0.587000														35			18		0	0	0.00074312	0	0
TBC1D10C	374403	broad.mit.edu	37	11	67174403	67174403	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:67174403C>T	uc001ola.3	+	7	783	c.754C>T	c.(754-756)Ctg>Ttg	p.L252L	PPP1CA_uc001okx.1_Intron|TBC1D10C_uc001okz.3_Intron|TBC1D10C_uc001olb.3_Non-coding_Transcript	NM_198517	NP_940919	Q8IV04	TB10C_HUMAN	Homo sapiens TBC1 domain family, member 10C (TBC1D10C), mRNA.	252	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	16			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			CCTGCTGTACCTGCCCGAGTG	0.677000														54			39		0	0	0.00285205	0	0
TBC1D1	23216	broad.mit.edu	37	4	38051416	38051416	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr4:38051416G>A	uc003gtb.3	+	10	2165	c.1807G>A	c.(1807-1809)Gaa>Aaa	p.E603K	TBC1D1_uc011byd.2_Missense_Mutation_p.E603K|TBC1D1_uc010ifd.3_Missense_Mutation_p.E350K|TBC1D1_uc011byf.1_Missense_Mutation_p.E474K	NM_015173	NP_055988	Q86TI0	TBCD1_HUMAN	Homo sapiens TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1 (TBC1D1), transcript variant 1, mRNA.	603						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						CTTCCCCATCGAATGCCAGGA	0.597000														64			33		0	0	0.00375469	0	0
ANXA9	8416	broad.mit.edu	37	1	150957108	150957108	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:150957108G>A	uc001ewa.2	+	6	898	c.428G>A	c.(427-429)cGa>cAa	p.R143Q		NM_003568	NP_003559	O76027	ANXA9_HUMAN	Homo sapiens annexin A9 (ANXA9), mRNA.	143					cell-cell adhesion	cell surface|cytosol	acetylcholine receptor activity|calcium ion binding|calcium-dependent phospholipid binding|phosphatidylserine binding|protein homodimerization activity			endometrium(1)|large_intestine(1)|lung(4)|skin(2)	8	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CTTGCCACTCGAACCCCACCC	0.542000														25			15		0	0	0.00316338	0	0
SLC4A11	83959	broad.mit.edu	37	20	3214775	3214775	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr20:3214775G>A	uc010zqe.2	-	4	731	c.606C>T	c.(604-606)ctC>ctT	p.L202L	SLC4A11_uc002wig.3_Silent_p.L175L|SLC4A11_uc002wih.3_Non-coding_Transcript|SLC4A11_uc010zqf.2_Silent_p.L159L	NM_001174090	NP_001167561	Q8NBS3	S4A11_HUMAN	Homo sapiens solute carrier family 4, sodium borate transporter, member 11 (SLC4A11), transcript variant 1, mRNA.	175					cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system	basolateral plasma membrane|integral to membrane	bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						GCATGGCCATGAGCAGGTCCA	0.667000														40			23		0	0	0.00395357	0	0
CNTNAP3	79937	broad.mit.edu	37	9	39109266	39109266	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr9:39109266G>A	uc004abi.3	-	14	2495	c.2256C>T	c.(2254-2256)gtC>gtT	p.V752V	CNTNAP3_uc004abj.3_Silent_p.V751V|CNTNAP3_uc011lqr.2_Non-coding_Transcript|CNTNAP3_uc004abk.1_Silent_p.V752V	NM_033655	NP_387504	Q9BZ76	CNTP3_HUMAN	Homo sapiens contactin associated protein-like 3 (CNTNAP3), mRNA.	752	Fibrinogen C-terminal.				cell adhesion|cell recognition|signal transduction	extracellular region|integral to membrane|plasma membrane	receptor binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		TTTGGGAAAGGACTATTGTGT	0.443000														19			7		0	0	0.00307968	0	0
ZNF132	7691	broad.mit.edu	37	19	58945690	58945690	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:58945690G>A	uc002qst.4	-	2	1522	c.1121C>T	c.(1120-1122)cCt>cTt	p.P374L		NM_003433	NP_003424	P52740	ZN132_HUMAN	Homo sapiens zinc finger protein 132 (ZNF132), mRNA.	374						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(1)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0171)|Lung(386;0.182)		GCACTCAAAAGGCCTTTCTCC	0.458000														50			13		0	0	0.00400662	0	0
TMEM38B	55151	broad.mit.edu	37	9	108536321	108536321	+	Missense_Mutation	SNP	C	T	T	rs140344242		TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr9:108536321C>T	uc004bcu.1	+	5	953	c.836C>T	c.(835-837)tCa>tTa	p.S279L	TMEM38B_uc010mtn.1_3'UTR	NM_018112	NP_060582	Q9NVV0	TM38B_HUMAN	Homo sapiens transmembrane protein 38B (TMEM38B), mRNA.	279						integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane	potassium channel activity			kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	13						GATGTTGCCTCAGATAATGTT	0.388000														44			33		0	0	0.00375469	0	0
TUBA3C	7278	broad.mit.edu	37	13	19752519	19752519	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr13:19752519C>T	uc009zzj.3	-	2	347	c.242G>A	c.(241-243)gGa>gAa	p.G81E		NM_006001	NP_525125	Q13748	TBA3C_HUMAN	Homo sapiens tubulin, alpha 3c (TUBA3C), mRNA.	81					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		CCTATAGGTTCCTGTGCGCAC	0.488000														59			45		0	0	0.00361006	0	0
SPRYD3	84926	broad.mit.edu	37	12	53470942	53470942	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:53470942G>A	uc001sbt.2	-	1	214	c.127C>T	c.(127-129)Cag>Tag	p.Q43*	SPRYD3_uc010snw.2_5'UTR	NM_032840	NP_116229	Q8NCJ5	SPRY3_HUMAN	Homo sapiens SPRY domain containing 3 (SPRYD3), mRNA.	43	B30.2/SPRY.									central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						AACCTCTCCTGATATCGGAAA	0.468000														48			23		0	0	0.00395357	0	0
CDK3	1018	broad.mit.edu	37	17	73998030	73998030	+	Silent	SNP	C	T	T	rs150589656		TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr17:73998030C>T	uc002jqg.4	+	4	2028	c.276C>T	c.(274-276)gtC>gtT	p.V92V	CDK3_uc010dgt.3_Silent_p.V64V	NM_001258	NP_001249	Q00526	CDK3_HUMAN	Homo sapiens cyclin-dependent kinase 3 (CDK3), mRNA.	64	Protein kinase.				cell division|cell proliferation|mitosis		ATP binding|cyclin-dependent protein kinase activity			central_nervous_system(1)	1						CCAACATCGTCCGGTGAGTTG	0.592000														27			13		0	0	0.00185496	0	0
TIMMDC1	51300	broad.mit.edu	37	3	119222389	119222389	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:119222389A>T	uc003ecn.3	+	2	584	c.371A>T	c.(370-372)cAt>cTt	p.H124L	TIMMDC1_uc003eco.3_Non-coding_Transcript|TIMMDC1_uc003ecp.3_Non-coding_Transcript	NM_016589	NP_057673	Q9NPL8	TIDC1_HUMAN	Homo sapiens translocase of inner mitochondrial membrane domain containing 1 (TIMMDC1), nuclear gene encoding mitochondrial protein, mRNA.	124						integral to membrane|mitochondrial inner membrane	protein transporter activity	p.A123P(1)		autonomic_ganglia(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	15						CAATCTGCACATCGTGCTGCC	0.408000														15			7		0	0	0.00198382	0	0
KANK4	163782	broad.mit.edu	37	1	62733995	62733995	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:62733995C>T	uc001dah.4	-	4	2572	c.2195G>A	c.(2194-2196)gGg>gAg	p.G732E	KANK4_uc001dai.4_Missense_Mutation_p.G104E|KANK4_uc001dag.4_Missense_Mutation_p.G88E	NM_181712	NP_859063	Q5T7N3	KANK4_HUMAN	Homo sapiens KN motif and ankyrin repeat domains 4 (KANK4), mRNA.	732										NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						TTCCCCAGGCCCACTTTCCTG	0.577000														36			13		0	0	0.00244969	0	0
INPP5D	3635	broad.mit.edu	37	2	234079226	234079226	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:234079226G>A	uc010zmo.2	+	14	1942	c.1789G>A	c.(1789-1791)Gag>Aag	p.E597K	INPP5D_uc010zmp.2_Missense_Mutation_p.E596K	NM_001017915	NP_001017915	Q92835	SHIP1_HUMAN	Homo sapiens inositol polyphosphate-5-phosphatase, 145kDa (INPP5D), transcript variant 1, mRNA.	626					T cell receptor signaling pathway|apoptosis|blood coagulation|leukocyte migration	cytosol	SH3 domain binding|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		AGAGAGGAGGGAGCAGAAGGT	0.582000														27			14		0	0	0.00400662	0	0
LRP1	4035	broad.mit.edu	37	12	57585135	57585135	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:57585135C>T	uc001snd.3	+	43	7735	c.7269C>T	c.(7267-7269)ttC>ttT	p.F2423F		NM_002332	NP_002323	Q07954	LRP1_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	2423					aorta morphogenesis|apoptotic cell clearance|negative regulation of Wnt receptor signaling pathway|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TCCACCCCTTCGGGCTGGCCG	0.617000														21			7		0	0	0.00198382	0	0
STK31	56164	broad.mit.edu	37	7	23825120	23825120	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:23825120G>A	uc003sws.4	+	17	2239	c.2172G>A	c.(2170-2172)atG>atA	p.M724I	STK31_uc003swt.4_Missense_Mutation_p.M701I|STK31_uc011jze.2_Missense_Mutation_p.M724I|STK31_uc010kuq.3_Missense_Mutation_p.M701I|STK31_uc003swv.1_5'Flank	NM_031414	NP_116562	Q9BXU1	STK31_HUMAN	Homo sapiens serine/threonine kinase 31 (STK31), transcript variant 1, mRNA.	724	Protein kinase.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity	p.M724I(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TCCTTACAATGAGCTTGGAAC	0.393000														64			34		0	0	0.00327116	0	0
XRN2	22803	broad.mit.edu	37	20	21314391	21314391	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr20:21314391T>C	uc002wsf.1	+	10	1078	c.983T>C	c.(982-984)gTt>gCt	p.V328A	XRN2_uc002wsg.1_Missense_Mutation_p.V252A|XRN2_uc010zsk.1_Missense_Mutation_p.V274A	NM_012255	NP_036387	Q9H0D6	XRN2_HUMAN	Homo sapiens 5'-3' exoribonuclease 2 (XRN2), mRNA.	328					DNA catabolic process, exonucleolytic|RNA catabolic process|cell growth|mRNA processing|regulation of transcription, DNA-dependent|spermatogenesis|transcription termination, DNA-dependent	nucleolus	5'-3' exoribonuclease activity|nucleic acid binding|protein binding|zinc ion binding			endometrium(5)|kidney(6)|large_intestine(10)|lung(12)|ovary(1)|skin(5)	39						ACATTTGATGTTGAGAGGAGC	0.428000														161			70		0	0	0.00361006	0	0
SLC9C1	285335	broad.mit.edu	37	3	111958766	111958766	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:111958766G>A	uc003dyu.3	-	11	1589	c.1367C>T	c.(1366-1368)gCc>gTc	p.A456V	SLC9C1_uc011bhu.2_5'UTR|SLC9C1_uc010hqc.3_Missense_Mutation_p.A408V	NM_183061	NP_898884	Q4G0N8	S9A10_HUMAN	Homo sapiens solute carrier family 9, member 10 (SLC9A10), mRNA.	456					cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity										AAATTTAAGGGCAGAGGCTGC	0.363000														45			18		0	0	0.000958276	0	0
ABO	28	broad.mit.edu	37	9	136137530	136137530	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr9:136137530G>A	uc004cda.1	-	1	95	c.70C>T	c.(70-72)Cta>Tta	p.L24L	ABO_uc010naf.1_5'UTR|ABO_uc011mcz.1_5'UTR|ABO_uc010nag.1_Intron	NM_020469	NP_065202	P16442	BGAT_HUMAN	Homo sapiens ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase) (ABO), mRNA.	24					protein glycosylation	Golgi cisterna membrane|extracellular region|integral to Golgi membrane	fucosylgalactoside 3-alpha-galactosyltransferase activity|glycoprotein-fucosylgalactoside alpha-N-acetylgalactosaminyltransferase activity|metal ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(2)|prostate(1)|stomach(2)	11				OV - Ovarian serous cystadenocarcinoma(145;5.82e-06)|Epithelial(140;3.45e-05)		AGCATTATTAGGAAAAGGATC	0.483000														35			6		0	0	0.00307968	0	0
BCAS3	54828	broad.mit.edu	37	17	59118169	59118169	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr17:59118169G>A	uc002iyv.4	+	19	2099	c.1990G>A	c.(1990-1992)Gaa>Aaa	p.E664K	BCAS3_uc002iyu.4_Missense_Mutation_p.E649K|BCAS3_uc002iyw.4_Missense_Mutation_p.E645K|BCAS3_uc002iyy.4_Missense_Mutation_p.E420K|BCAS3_uc002iyz.4_Missense_Mutation_p.E218K|BCAS3_uc002iza.4_Missense_Mutation_p.E203K	NM_001099432	NP_001092902	Q9H6U6	BCAS3_HUMAN	Homo sapiens breast carcinoma amplified sequence 3 (BCAS3), transcript variant 1, mRNA.	664						nucleus				NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			TCAATGGAATGAATTGCAGCC	0.413000														110			80		0	0	0.00361006	0	0
GRM8	2918	broad.mit.edu	37	7	126079219	126079219	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:126079219G>A	uc003vlr.2	-	9	2992	c.2681C>T	c.(2680-2682)tCc>tTc	p.S894F	GRM8_uc003vls.2_Non-coding_Transcript|GRM8_uc011kof.1_Non-coding_Transcript|GRM8_uc003vlt.2_3'UTR|GRM8_uc010lkz.1_Non-coding_Transcript	NM_000845	NP_000836	O00222	GRM8_HUMAN	Homo sapiens glutamate receptor, metabotropic 8 (GRM8), transcript variant 1, mRNA.	894					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		p.S894F(2)		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)	CTTGGTAGAGGAAGCTGTTAA	0.284000										HNSCC(24;0.065)				126			54		0	0	0.00361006	0	0
PTPRB	5787	broad.mit.edu	37	12	70988436	70988436	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:70988436C>T	uc001swb.4	-	3	703	c.673G>A	c.(673-675)Ggt>Agt	p.G225S	PTPRB_uc010sto.2_Missense_Mutation_p.G225S|PTPRB_uc010stp.2_Missense_Mutation_p.G225S|PTPRB_uc001swc.4_Missense_Mutation_p.G443S|PTPRB_uc001swa.4_Missense_Mutation_p.G443S|PTPRB_uc001swd.4_Missense_Mutation_p.G442S|PTPRB_uc009zrr.2_Missense_Mutation_p.G322S|PTPRB_uc001swe.3_Missense_Mutation_p.G443S	NM_002837	NP_002828	P23467	PTPRB_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA.	225	Fibronectin type-III 3.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			TTCCCAGAACCATGGGACCAG	0.438000														40			18		0	0	0.00188189	0	0
EPN1	29924	broad.mit.edu	37	19	56203242	56203242	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:56203242C>T	uc002qlw.3	+	6	1227	c.885C>T	c.(883-885)ccC>ccT	p.P295P	EPN1_uc002qlv.3_Silent_p.P270P|EPN1_uc010etd.3_Silent_p.P295P|EPN1_uc002qlx.3_Silent_p.P381P	NM_001130072	NP_001123544	Q9Y6I3	EPN1_HUMAN	Homo sapiens epsin 1 (EPN1), transcript variant 2, mRNA.	295	8 X 3 AA repeats of [ED]-P-W.|Ala/Gly/Pro-rich.				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|cytoplasm|nucleus|plasma membrane	lipid binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	17		Colorectal(82;0.00244)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.112)		CCTCGGACCCCTGGGGCGGCC	0.756000														9			10		0	0	0.000673444	0	0
BTBD9	114781	broad.mit.edu	37	6	38256186	38256186	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:38256186C>T	uc003ooa.4	-	8	1892	c.1316G>A	c.(1315-1317)gGa>gAa	p.G439E	BTBD9_uc010jwv.3_Missense_Mutation_p.G409E|BTBD9_uc003ony.4_Missense_Mutation_p.G371E|BTBD9_uc010jww.3_Non-coding_Transcript|BTBD9_uc010jwx.3_Missense_Mutation_p.G439E	NM_052893	NP_689946	Q96Q07	BTBD9_HUMAN	Homo sapiens BTB (POZ) domain containing 9 (BTBD9), transcript variant 1, mRNA.	439					cell adhesion					breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	12						CCGACTGACTCCTTCAATCAC	0.453000														55			20		0	0	0.00278032	0	0
FLNA	2316	broad.mit.edu	37	X	153583356	153583356	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chrX:153583356G>A	uc004fkk.2	-	30	5303	c.5054C>T	c.(5053-5055)aCg>aTg	p.T1685M	FLNA_uc011mzn.1_5'UTR|FLNA_uc010nuu.1_Missense_Mutation_p.T1677M	NM_001110556	NP_001104026	P21333	FLNA_HUMAN	Homo sapiens filamin A, alpha (FLNA), transcript variant 2, mRNA.	1685					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	Fc-gamma receptor I complex binding|GTP-Ral binding|Rac GTPase binding|actin filament binding|glycoprotein binding|protein homodimerization activity|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CACGGTGCACGTCACTTTGCC	0.622000											OREG0003595	type=REGULATORY REGION|Gene=FLNA|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay		14			21		0	0	0.00229938	0	0
LRRN4	164312	broad.mit.edu	37	20	6025272	6025272	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr20:6025272C>T	uc002wmo.2	-	3	1139	c.915G>A	c.(913-915)tcG>tcA	p.S305S		NM_152611	NP_689824	Q8WUT4	LRRN4_HUMAN	Homo sapiens leucine rich repeat neuronal 4 (LRRN4), mRNA.	305						integral to membrane				breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	27						AGAGGTTGATCGATAGGACCT	0.438000														26			13		0	0	0.00244969	0	0
COL21A1	81578	broad.mit.edu	37	6	56029616	56029616	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:56029616C>T	uc003pcs.3	-	7	1515	c.1283G>A	c.(1282-1284)gGa>gAa	p.G428E	COL21A1_uc003pct.1_Non-coding_Transcript|COL21A1_uc011dxi.1_Missense_Mutation_p.G428E|COL21A1_uc003pcu.1_Intron	NM_030820	NP_110447	Q96P44	COLA1_HUMAN	Homo sapiens collagen, type XXI, alpha 1 (COL21A1), mRNA.	428					cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			GCCTACCTCTCCATTCTGAAA	0.299000														20			8		0	0	0.000442599	0	0
ZSCAN18	65982	broad.mit.edu	37	19	58601606	58601606	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:58601606G>A	uc010yht.1	-	1	227	c.197C>T	c.(196-198)tCc>tTc	p.S66F	ZSCAN18_uc002qrj.3_Missense_Mutation_p.S10F|ZSCAN18_uc010yhs.1_Intron|ZSCAN18_uc002qrh.2_Missense_Mutation_p.S10F|ZSCAN18_uc002qri.2_Missense_Mutation_p.S10F|ZSCAN18_uc002qrk.1_Missense_Mutation_p.S10F|ZSCAN18_uc002qrl.2_Missense_Mutation_p.S10F	NM_001145542	NP_001139014	Q8TBC5	ZSC18_HUMAN	Homo sapiens zinc finger and SCAN domain containing 18 (ZSCAN18), transcript variant 1, mRNA.	10	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3)	19		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		GCTCCTGGGGGAGGCAAACGC	0.622000														37			21		0	0	0.00278032	0	0
ABCC10	89845	broad.mit.edu	37	6	43412653	43412653	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:43412653C>T	uc003ouy.1	+	12	3032	c.2817C>T	c.(2815-2817)ctC>ctT	p.L939L	ABCC10_uc003ouz.1_Silent_p.L911L|ABCC10_uc010jyo.1_Silent_p.L45L	NM_001198934	NP_001185863	Q5T3U5	MRP7_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 10 (ABCC10), transcript variant MRP7, mRNA.	939	ABC transmembrane type-1 2.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			CGCAGCTGCTCCTCTTTTCCC	0.617000														60			24		0	0	0.000878237	0	0
ADCYAP1R1	117	broad.mit.edu	37	7	31126557	31126557	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:31126557G>A	uc003tca.2	+	11	1113	c.824_splice	c.e11-1	p.G275_splice	ADCYAP1R1_uc003tcg.3_Splice_Site_p.G275_splice|ADCYAP1R1_uc003tce.2_Splice_Site_p.G275_splice|ADCYAP1R1_uc003tcb.2_Splice_Site_p.G254_splice|ADCYAP1R1_uc003tcc.2_Splice_Site_p.G275_splice|ADCYAP1R1_uc003tcf.1_Splice_Site	NM_001118	NP_001109	P41586	PACR_HUMAN	Homo sapiens adenylate cyclase activating polypeptide 1 (pituitary) receptor type I (ADCYAP1R1), transcript variant 3, mRNA.	275					activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity			endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						GTTCTCCCAGGGACCCCAACT	0.537000														81			27		0	0	0.00283554	0	0
TG	7038	broad.mit.edu	37	8	133919002	133919002	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr8:133919002C>T	uc003ytw.3	+	16	3745	c.3704C>T	c.(3703-3705)tCg>tTg	p.S1235L	TG_uc010mdw.3_5'UTR	NM_003235	NP_003226	P01266	THYG_HUMAN	Homo sapiens thyroglobulin (TG), mRNA.	1235					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GAGACAATCTCGGGCCCCACA	0.622000														35			12		0	0	0.00244969	0	0
C9orf114	51490	broad.mit.edu	37	9	131589467	131589467	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr9:131589467C>A	uc004bwd.3	-	3	253	c.212G>T	c.(211-213)cGg>cTg	p.R71L		NM_016390	NP_057474	Q5T280	CI114_HUMAN	Homo sapiens chromosome 9 open reading frame 114 (C9orf114), mRNA.	71										kidney(2)|large_intestine(4)|ovary(1)	7						TGTGTAGGGCCGCCCTGAGCA	0.617000														21			11		0.000673444	0.00210748	0.000673444	1	0
KCNN1	3780	broad.mit.edu	37	19	18092692	18092692	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:18092692G>A	uc002nht.3	+	4	983	c.673G>A	c.(673-675)Gac>Aac	p.D225N	KCNN1_uc010xqa.1_Missense_Mutation_p.D225N	NM_002248	NP_002239	Q92952	KCNN1_HUMAN	Homo sapiens potassium intermediate/small conductance calcium-activated channel, subfamily N, member 1 (KCNN1), mRNA.	225					synaptic transmission	voltage-gated potassium channel complex	calmodulin binding|small conductance calcium-activated potassium channel activity			endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	8						GGCCGAGGCCGACGTGGACGT	0.672000														12			7		0	0	0.00307968	0	0
CTR9	9646	broad.mit.edu	37	11	10797129	10797129	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:10797129C>T	uc001mja.3	+	23	3193	c.3044C>T	c.(3043-3045)tCa>tTa	p.S1015L		NM_014633	NP_055448	Q6PD62	CTR9_HUMAN	Homo sapiens Ctr9, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae) (CTR9), mRNA.	1015	Ser-rich.				histone H2B ubiquitination|histone monoubiquitination	Cdc73/Paf1 complex|nuclear speck				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		GCCATAATTTCATCAAGTGAT	0.343000														16			8		0	0	0.00307968	0	0
HLA-DRB5	3127	broad.mit.edu	37	6	32549500	32549500	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:32549500C>T	uc003obp.4	-	2	580	c.486G>A	c.(484-486)ctG>ctA	p.L162L	HLA-DRB5_uc003obk.4_Intron|HLA-DRB5_uc021yvx.1_Intron|HLA-DRB5_uc003obo.1_Intron|HLA-DRB5_uc011dqb.1_5'UTR|HLA-DRB5_uc011dqc.1_5'UTR	NM_002124	NP_002115	Q30154	DRB5_HUMAN	Homo sapiens major histocompatibility complex, class II, DR beta 1 (HLA-DRB1), transcript variant 1, mRNA.	162	Beta-2.|Ig-like C1-type.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response	Golgi apparatus|MHC class II protein complex|endoplasmic reticulum membrane|integral to membrane|late endosome membrane|lysosomal membrane				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|stomach(2)	10						CCTGGCCGTTCAGGAACCACC	0.547000														129			7		0	0	0.000274275	0	0
AUTS2	26053	broad.mit.edu	37	7	70255516	70255516	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:70255516C>T	uc003tvw.4	+	18	4049	c.3314C>T	c.(3313-3315)tCg>tTg	p.S1105L	AUTS2_uc003tvx.4_Missense_Mutation_p.S1081L|AUTS2_uc011keg.2_Missense_Mutation_p.S557L	NM_015570	NP_056385	Q8WXX7	AUTS2_HUMAN	Homo sapiens autism susceptibility candidate 2 (AUTS2), transcript variant 1, mRNA.	1105										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		CACCGGCTCTCGACTCCCCGG	0.647000														7			6		0	0	0.00198382	0	0
PFKFB4	5210	broad.mit.edu	37	3	48576723	48576723	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:48576723G>A	uc003ctv.3	-	5	491	c.474C>T	c.(472-474)atC>atT	p.I158I	PFKFB4_uc003ctx.3_Silent_p.I115I|PFKFB4_uc010hkb.3_Silent_p.I158I|PFKFB4_uc003ctw.3_5'UTR|PFKFB4_uc010hkc.3_Silent_p.I158I|PFKFB4_uc011bbm.2_Silent_p.I147I|PFKFB4_uc011bbn.1_Non-coding_Transcript	NM_004567	NP_004558	Q16877	F264_HUMAN	Homo sapiens 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4 (PFKFB4), mRNA.	158	6-phosphofructo-2-kinase.				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|urinary_tract(1)	14				BRCA - Breast invasive adenocarcinoma(193;0.0003)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)		GATCCACACAGATGGACTCGA	0.567000														17			20		0	0	0.00332997	0	0
SNAP47	116841	broad.mit.edu	37	1	227968262	227968262	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:227968262C>T	uc001hrf.2	+	4	1697	c.1283C>T	c.(1282-1284)gCc>gTc	p.A428V	SNAP47_uc001hra.2_Missense_Mutation_p.A186V	NM_053052	NP_444280	Q5SQN1	SNP47_HUMAN	Homo sapiens synaptosomal-associated protein, 47kDa (SNAP47), mRNA.	428	t-SNARE coiled-coil homology 2.					endomembrane system|membrane|perinuclear region of cytoplasm				endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17						GCCCTGGAGGCCGAGAGTGAG	0.572000														25			16		0	0	0.00121646	0	0
OR6C4	341418	broad.mit.edu	37	12	55945239	55945239	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:55945239C>T	uc010spp.2	+	0	229	c.229C>T	c.(229-231)Ccc>Tcc	p.P77S		NM_001005494	NP_001005494	Q8NGE1	OR6C4_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 4 (OR6C4), mRNA.	77					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	11						CATTTTTATTCCCAGATTTCT	0.418000														84			36		0	0	0.00327116	0	0
CAMK1G	57172	broad.mit.edu	37	1	209785559	209785560	+	Nonsense_Mutation	DNP	AC	TT	TT			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:209785559_209785560AC>TT	uc001hhd.3	+	10	1440_1441	c.1338_1339AC>TT	c.(1336-1341)aaacag>aaTTag	p.446_447KQ>N*	CAMK1G_uc001hhf.4_Nonsense_Mutation_p.446_447KQ>N*|CAMK1G_uc001hhe.3_Nonsense_Mutation_p.446_447KQ>N*	NM_020439	NP_065172	Q96NX5	KCC1G_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase IG (CAMK1G), mRNA.	446						Golgi membrane|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(2)|central_nervous_system(1)|large_intestine(8)|lung(8)|stomach(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.0475)		CCAACAAAAAACAGTACGTATT	0.510000														31			8		0	0	6.4e-05	0	0
PLCXD2	257068	broad.mit.edu	37	3	111426916	111426916	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:111426916C>T	uc003dya.3	+	1	877	c.307C>T	c.(307-309)Cga>Tga	p.R103*	PLCXD2_uc003dxz.3_Nonsense_Mutation_p.R103*	NM_001185106	NP_001172035	Q0VAA5	PLCX2_HUMAN	Homo sapiens phosphatidylinositol-specific phospholipase C, X domain containing 2 (PLCXD2), transcript variant 1, mRNA.	103	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity			endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)	17						CCTGACATTTCGAGAACAGCT	0.522000														54			20		0	0	0.00152264	0	0
ZMYM4	9202	broad.mit.edu	37	1	35851166	35851166	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:35851166T>C	uc001byt.3	+	9	1773	c.1693T>C	c.(1693-1695)Tac>Cac	p.Y565H	ZMYM4_uc009vuu.3_Missense_Mutation_p.Y533H|ZMYM4_uc001byu.3_Missense_Mutation_p.Y241H|ZMYM4_uc009vuv.3_Missense_Mutation_p.Y304H	NM_005095	NP_005086	Q5VZL5	ZMYM4_HUMAN	Homo sapiens zinc finger, MYM-type 4 (ZMYM4), mRNA.	565					multicellular organismal development		DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CTTATCTGCTTACAGAGTTAA	0.343000														53			18		0	0	0.00152264	0	0
C16orf62	57020	broad.mit.edu	37	16	19651383	19651383	+	Missense_Mutation	SNP	G	A	A	rs144364706		TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr16:19651383G>A	uc002dgn.2	+	20	2060	c.1745G>A	c.(1744-1746)cGg>cAg	p.R582Q	C16orf62_uc002dgo.2_Missense_Mutation_p.R604Q|C16orf62_uc002dgp.2_Missense_Mutation_p.R331Q	NM_020314	NP_064710	Q7Z3J2	CP062_HUMAN	Homo sapiens chromosome 16 open reading frame 62 (C16orf62), mRNA.	582						integral to membrane		p.R582W(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						GAGAGTGTGCGGGTGGAGGTT	0.433000														61			5		0	0	0.00116845	0	0
LHCGR	3973	broad.mit.edu	37	2	48914995	48914995	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:48914995C>T	uc002rwu.4	-	10	2011	c.1941G>A	c.(1939-1941)cgG>cgA	p.R647R	STON1-GTF2A1L_uc021vhf.1_Intron	NM_000233	NP_000224	P22888	LSHR_HUMAN	Homo sapiens luteinizing hormone/choriogonadotropin receptor (LHCGR), mRNA.	647					male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity			NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	AAAGTTCAGCCCGACGTTTAC	0.383000														88			27		0	0	0.00106085	0	0
SLC38A4	55089	broad.mit.edu	37	12	47181746	47181746	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:47181746G>A	uc001rpi.2	-	4	678	c.279C>T	c.(277-279)atC>atT	p.I93I	SLC38A4_uc001rpj.2_Silent_p.I93I|SLC38A4_uc009zkl.2_Silent_p.I93I	NM_018018	NP_060488	Q969I6	S38A4_HUMAN	Homo sapiens solute carrier family 38, member 4 (SLC38A4), transcript variant 1, mRNA.	93					cellular nitrogen compound metabolic process|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	21	Lung SC(27;0.192)|Renal(347;0.236)					ACAAGCCCAGGATCCCACTGC	0.428000														42			19		0	0	0.00188189	0	0
SLC22A9	114571	broad.mit.edu	37	11	63174092	63174092	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:63174092G>A	uc001nww.3	+	6	1465	c.1197G>A	c.(1195-1197)tgG>tgA	p.W399*	SLC22A9_uc001nwx.3_Non-coding_Transcript	NM_080866	NP_543142	Q8IVM8	S22A9_HUMAN	Homo sapiens solute carrier family 22 (organic anion transporter), member 9 (SLC22A9), mRNA.	399					transmembrane transport	integral to membrane		p.W399L(1)		breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						TTGCACCTTGGGCACTGAAAT	0.488000														27			22		0	0	0.00229938	0	0
NDRG3	57446	broad.mit.edu	37	20	35312868	35312868	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr20:35312868G>A	uc002xfw.3	-	5	473	c.331C>T	c.(331-333)Ccc>Tcc	p.P111S	NDRG3_uc002xfx.3_Missense_Mutation_p.P99S|NDRG3_uc010zvq.2_Missense_Mutation_p.P16S|NDRG3_uc010zvr.2_5'UTR	NM_032013	NP_114402	Q9UGV2	NDRG3_HUMAN	Homo sapiens NDRG family member 3 (NDRG3), transcript variant 1, mRNA.	111					cell differentiation|negative regulation of cell growth|spermatogenesis	cytoplasm				endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12		Myeloproliferative disorder(115;0.00878)				TCCATTGTGGGGTACTGATAC	0.433000														36			23		0	0	0.000720815	0	0
ZNF143	7702	broad.mit.edu	37	11	9534078	9534078	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:9534078G>A	uc001mhr.3	+	12	1578	c.1459G>A	c.(1459-1461)Gcc>Acc	p.A487T	ZNF143_uc009yfu.3_Missense_Mutation_p.A486T|ZNF143_uc010rby.2_Missense_Mutation_p.A456T	NM_003442	NP_003433	P52747	ZN143_HUMAN	Homo sapiens zinc finger protein 143 (ZNF143), mRNA.	487					regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding|zinc ion binding			endometrium(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	13				all cancers(16;4.12e-09)|Epithelial(150;2.29e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0212)		TACACAAGTAGCCACAGTAAC	0.413000														47			22		0	0	0.00229938	0	0
SPEF2	79925	broad.mit.edu	37	5	35740274	35740274	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:35740274G>A	uc003jjo.3	+	22	3346	c.3235G>A	c.(3235-3237)Gat>Aat	p.D1079N	SPEF2_uc003jjp.1_Missense_Mutation_p.D565N	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	Homo sapiens sperm flagellar 2 (SPEF2), transcript variant 1, mRNA.	1079					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TCACAAGCAAGATTTTGTAGC	0.393000														59			25		0	0	0.000720815	0	0
POMC	5443	broad.mit.edu	37	2	25384144	25384144	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:25384144C>T	uc002rfy.1	-	3	873	c.610G>A	c.(610-612)Gac>Aac	p.D204N	POMC_uc002rfz.1_Missense_Mutation_p.D204N|POMC_uc002rga.1_Missense_Mutation_p.D204N	NM_001035256	NP_001030333	P01189	COLI_HUMAN	Homo sapiens proopiomelanocortin (POMC), transcript variant 1, mRNA.	204					cell-cell signaling|cellular nitrogen compound metabolic process|cellular pigmentation|generation of precursor metabolites and energy|hormone biosynthetic process|negative regulation of tumor necrosis factor production|neuropeptide signaling pathway|peptide hormone processing|positive regulation of transcription from RNA polymerase II promoter|regulation of appetite|regulation of blood pressure	extracellular space|stored secretory granule	hormone activity|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding	p.D204N(2)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)	12	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Hydrocortisone(DB00741)|Loperamide(DB00836)|Trilostane(DB01108)	TGCTCCAGGTCGGCCTGGGCC	0.701000														8			4		0	0	0.000602214	0	0
RNF133	168433	broad.mit.edu	37	7	122338165	122338165	+	Missense_Mutation	SNP	G	A	A	rs113296018	byFrequency	TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:122338165G>A	uc003vkj.1	-	0	1044	c.808C>T	c.(808-810)Cgt>Tgt	p.R270C	CADPS2_uc022akp.1_Intron|CADPS2_uc022akq.1_Intron|CADPS2_uc010lkq.3_Intron|CADPS2_uc022akr.1_Intron	NM_139175	NP_631914	Q8WVZ7	RN133_HUMAN	Homo sapiens ring finger protein 133 (RNF133), mRNA.	270						endoplasmic reticulum membrane|integral to membrane	ligase activity|zinc ion binding	p.V269I(1)		NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21						GTCAGAATACGAACTATGTCA	0.388000														51			44		0	0	0.00361006	0	0
KIRREL	55243	broad.mit.edu	37	1	158059514	158059514	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:158059514C>T	uc001frn.4	+	9	1582	c.1178C>T	c.(1177-1179)cCc>cTc	p.P393L	KIRREL_uc010pib.2_Missense_Mutation_p.P293L|KIRREL_uc009wsq.3_Missense_Mutation_p.P229L|KIRREL_uc001fro.4_Missense_Mutation_p.P207L	NM_018240	NP_060710	Q96J84	KIRR1_HUMAN	Homo sapiens kin of IRRE like (Drosophila) (KIRREL), mRNA.	393	Ig-like C2-type 5.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					GCAGGGCCCCCCATCATCTCC	0.587000														48			24		0	0	0.00106085	0	0
MERTK	10461	broad.mit.edu	37	2	112705122	112705122	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:112705122C>T	uc002thk.1	+	3	857	c.735C>T	c.(733-735)tcC>tcT	p.S245S	MERTK_uc002thl.1_Silent_p.S69S	NM_006343	NP_006334	Q12866	MERTK_HUMAN	Homo sapiens c-mer proto-oncogene tyrosine kinase (MERTK), mRNA.	245	Ig-like C2-type 2.				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						CTGAAAAATCCCCCTCCGTGC	0.512000														43			13		0	0	0.00244969	0	0
DMRT1	1761	broad.mit.edu	37	9	847071	847071	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr9:847071C>T	uc003zgv.3	+	1	615	c.466C>T	c.(466-468)Ccg>Tcg	p.P156S	DMRT1_uc003zgu.1_Missense_Mutation_p.P156S	NM_021951	NP_068770	Q9Y5R6	DMRT1_HUMAN	Homo sapiens doublesex and mab-3 related transcription factor 1 (DMRT1), mRNA.	156					cell differentiation|male gonad development|sex determination	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			large_intestine(2)|lung(10)|ovary(1)	13		all_lung(10;2.66e-10)|Lung NSC(10;2.82e-10)|Breast(48;0.232)		Lung(218;0.037)		TGGCAGTAACCCGTGCCTCAT	0.607000														16			13		0	0	0.00316338	0	0
TNXB	7148	broad.mit.edu	37	6	32037450	32037450	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:32037450C>T	uc003nzl.2	-	14	5669	c.5467G>A	c.(5467-5469)Gag>Aag	p.E1823K		NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	1905	Fibronectin type-III 10.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						AGGCTGCCCTCCACGGGCACC	0.662000														170			59		0	0	0.00361006	0	0
APOB	338	broad.mit.edu	37	2	21230775	21230775	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:21230775G>A	uc002red.3	-	25	9093	c.8965C>T	c.(8965-8967)Caa>Taa	p.Q2989*		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	2989					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	ACTTGTGATTGAATTTCAAGT	0.428000														353			173		0	0	0.00361006	0	0
IMPG2	50939	broad.mit.edu	37	3	100992530	100992530	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:100992530C>T	uc003duq.2	-	6	926	c.723G>A	c.(721-723)caG>caA	p.Q241Q	IMPG2_uc011bhe.2_Silent_p.Q104Q	NM_016247	NP_057331	Q9BZV3	IMPG2_HUMAN	Homo sapiens interphotoreceptor matrix proteoglycan 2 (IMPG2), mRNA.	241	SEA 1.				visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						ATTCTGCAATCTGTTCACCTG	0.383000														26			20		0	0	0.00121646	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140307492	140307492	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:140307492G>A	uc003lih.2	+	0	1191	c.1015G>A	c.(1015-1017)Gaa>Aaa	p.E339K	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lif.2_Intron|PCDHAC2_uc003lie.1_Intron|PCDHAC2_uc003lig.1_Missense_Mutation_p.E339K	NM_018898	NP_061721	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha subfamily C, 1 (PCDHAC1), transcript variant 1, mRNA.	364	Cadherin 3.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.E339K(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCATGCCCCCGAACTGGACTT	0.522000														78			35		0	0	0.00148497	0	0
LPA	4018	broad.mit.edu	37	6	160963746	160963746	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:160963746C>T	uc003qtl.3	-	34	5613	c.5493G>A	c.(5491-5493)tgG>tgA	p.W1831*		NM_005577	NP_005568	P08519	APOA_HUMAN	Homo sapiens lipoprotein, Lp(a) (LPA), mRNA.	4339	Kringle 16.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	CTTGCCAGGGCCAGGAATGTG	0.507000														47			19		0	0	0.00121646	0	0
TSPAN32	10077	broad.mit.edu	37	11	2339110	2339110	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:2339110C>T	uc001lvy.1	+	9	1056	c.919C>T	c.(919-921)Cgc>Tgc	p.R307C	TSPAN32_uc009ydl.1_Non-coding_Transcript|TSPAN32_uc001lvz.1_Missense_Mutation_p.R277C|TSPAN32_uc001lwb.1_Missense_Mutation_p.S216L|TSPAN32_uc001lwc.1_Missense_Mutation_p.R252C|TSPAN32_uc001lwd.1_Missense_Mutation_p.R239C	NM_139022	NP_620591	Q96QS1	TSN32_HUMAN	Homo sapiens tetraspanin 32 (TSPAN32), mRNA.	307					cell-cell signaling	integral to membrane				breast(1)|central_nervous_system(1)|lung(4)|ovary(1)|skin(1)	8		all_epithelial(84;4.89e-05)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.00791)|Lung NSC(207;0.209)		BRCA - Breast invasive adenocarcinoma(625;0.000533)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153)		gggcagaagtcgcggtgggct	0.587000														16			7		0	0	0.000673444	0	0
LRP5L	91355	broad.mit.edu	37	22	25755824	25755824	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr22:25755824G>A	uc003abs.3	-	0	2701	c.236C>T	c.(235-237)cCc>cTc	p.P79L	LRP5L_uc011ajz.2_Missense_Mutation_p.P79L|LRP5L_uc010guw.1_Missense_Mutation_p.P79L	NM_182492	NP_872298	A4QPB2	LRP5L_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 5-like (LRP5L), transcript variant 1, mRNA.	79										central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(2)	6						AATGGCACGGGGCTCGTCCAT	0.607000														62			19		0	0	0.00188189	0	0
RDH8	50700	broad.mit.edu	37	19	10131966	10131966	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:10131966A>G	uc002mmr.3	+	4	821	c.572A>G	c.(571-573)gAg>gGg	p.E191G		NM_015725	NP_056540	Q9NYR8	RDH8_HUMAN	Homo sapiens retinol dehydrogenase 8 (all-trans) (RDH8), mRNA.	191					estrogen biosynthetic process|response to stimulus|visual perception	cytoplasm|integral to plasma membrane	NADP-retinol dehydrogenase activity|binding|estradiol 17-beta-dehydrogenase activity|retinol dehydrogenase activity			endometrium(3)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|prostate(1)	21			Epithelial(33;4.24e-05)		Vitamin A(DB00162)	GTGGTCACCGAGTTTGAGGGG	0.592000														27			12		0	0	0.00244969	0	0
GRIN2B	2904	broad.mit.edu	37	12	13717313	13717313	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:13717313G>A	uc001rbt.2	-	12	3038	c.2859C>T	c.(2857-2859)ccC>ccT	p.P953P		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2B (GRIN2B), mRNA.	953					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.P953P(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)	TCTCCTCACAGGGCGGGTTGT	0.547000														74			38		0	0	0.00111076	0	0
ITIH2	3698	broad.mit.edu	37	10	7763687	7763687	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr10:7763687G>A	uc001ijs.3	+	7	976	c.814G>A	c.(814-816)Gaa>Aaa	p.E272K		NM_002216	NP_002207	P19823	ITIH2_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain 2 (ITIH2), mRNA.	272					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						GGTAGATGGGGAACTGGTGGT	0.552000														76			31		0	0	0.00148497	0	0
ASPM	259266	broad.mit.edu	37	1	197071057	197071057	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:197071057G>A	uc001gtu.3	-	17	7581	c.7324C>T	c.(7324-7326)Cga>Tga	p.R2442*	ASPM_uc001gtv.3_Intron|ASPM_uc001gtw.4_Nonsense_Mutation_p.R290*	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	Homo sapiens asp (abnormal spindle) homolog, microcephaly associated (Drosophila) (ASPM), transcript variant 1, mRNA.	2442					mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						ATGGTGGCTCGATATTTCCTC	0.373000														60			27		0	0	0.001512	0	0
NEB	4703	broad.mit.edu	37	2	152499129	152499129	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:152499129G>A	uc021vrb.1	-	57	8361	c.8332C>T	c.(8332-8334)Cct>Tct	p.P2778S	NEB_uc002txu.3_Missense_Mutation_p.P2778S|NEB_uc021vrc.1_Missense_Mutation_p.P2778S|NEB_uc010fnx.3_Missense_Mutation_p.P2778S|NEB_uc021vrd.1_Missense_Mutation_p.P2778S	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	2778					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GCCTTGATAGGAATGGCATCT	0.378000														50			17		0	0	0.00121646	0	0
PIF1	80119	broad.mit.edu	37	15	65114806	65114806	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr15:65114806C>T	uc002ant.2	-	2	628	c.562G>A	c.(562-564)Gcc>Acc	p.A188T	PIF1_uc002anr.2_5'Flank|PIF1_uc002ans.2_5'Flank|PIF1_uc010uiq.1_Missense_Mutation_p.A188T|PIF1_uc002anu.3_Missense_Mutation_p.A188T	NM_025049	NP_079325	Q9H611	PIF1_HUMAN	Homo sapiens PIF1 5'-to-3' DNA helicase homolog (S. cerevisiae) (PIF1), mRNA.	188	Hydrolyzes ATP in the presence of both magnesium and single-stranded DNA; weak activity in the presence of RNA or double-stranded DNA; No unwinding activity.				negative regulation of telomerase activity|regulation of telomere maintenance|viral genome replication	nuclear chromosome, telomeric region	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' DNA/RNA helicase activity|magnesium ion binding|single-stranded DNA-dependent ATP-dependent DNA helicase activity|telomeric DNA binding			kidney(1)|lung(1)	2						CACCTTGGGGCTTCCTGGGGG	0.617000														5			13		0	0	0.00316338	0	0
RAI2	10742	broad.mit.edu	37	X	17818679	17818679	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chrX:17818679C>T	uc022btm.1	-	0	1452	c.1452G>A	c.(1450-1452)ggG>ggA	p.G484G	RAI2_uc004cyf.3_Silent_p.G484G|RAI2_uc004cyg.3_Silent_p.G484G|RAI2_uc011miy.2_Silent_p.G434G|RAI2_uc022btl.1_Silent_p.G484G|RAI2_uc004cyh.4_Silent_p.G484G|RAI2_uc010nfa.3_Silent_p.G484G	NM_021785	NP_068557	Q9Y5P3	RAI2_HUMAN	Homo sapiens retinoic acid induced 2 (RAI2), transcript variant 2, mRNA.	484					embryo development					breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	22	Hepatocellular(33;0.183)					TGGACTCTTCCCCTTGGCTGT	0.478000														66			138		0	0	0.00361006	0	0
PRLR	5618	broad.mit.edu	37	5	35065447	35065447	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:35065447C>T	uc003jjm.3	-	9	2172	c.1613G>A	c.(1612-1614)gGg>gAg	p.G538E	PRLR_uc003jjk.1_Intron|PRLR_uc003jjg.2_Intron|PRLR_uc003jjh.2_Intron|PRLR_uc003jji.2_Intron|PRLR_uc003jjj.2_Intron|PRLR_uc003jjl.4_Missense_Mutation_p.G437E|PRLR_uc021xxl.1_Silent_p.R347R	NM_000949	NP_000940	P16471	PRLR_HUMAN	Homo sapiens prolactin receptor (PRLR), transcript variant 1, mRNA.	538					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)	CTCAGGAGTCCCGGGCTTCTT	0.483000														49			13		0	0	0.00244969	0	0
COL14A1	7373	broad.mit.edu	37	8	121381652	121381652	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr8:121381652C>T	uc003yox.3	+	46	5504	c.5239C>T	c.(5239-5241)Cct>Tct	p.P1747S	COL14A1_uc003yoz.3_Missense_Mutation_p.P712S	NM_021110	NP_066933	Q05707	COEA1_HUMAN	Homo sapiens collagen, type XIV, alpha 1 (COL14A1), mRNA.	1747	Triple-helical region 2 (COL1).				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging	p.P1747S(2)		NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			TCTGGGGGTTCCTGGACCCCA	0.597000														48			19		0	0	0.00229938	0	0
FMN2	56776	broad.mit.edu	37	1	240492397	240492397	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:240492397G>A	uc010pye.2	+	9	4474	c.4249G>A	c.(4249-4251)Gaa>Aaa	p.E1417K	FMN2_uc010pyd.2_Missense_Mutation_p.E1413K|FMN2_uc010pyf.1_Missense_Mutation_p.E59K|FMN2_uc010pyg.2_Missense_Mutation_p.E9K	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	Homo sapiens formin 2 (FMN2), mRNA.	1413	FH2.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	p.G1416V(1)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			AGACGAACTCGAAAAAATAGA	0.378000														64			23		0	0	0.00229938	0	0
PPT1	5538	broad.mit.edu	37	1	40557736	40557736	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:40557736A>G	uc001cfb.2	-	2	575	c.343T>C	c.(343-345)Tcc>Ccc	p.S115P	PPT1_uc010ojf.1_Missense_Mutation_p.S65P|PPT1_uc010ojg.1_Intron|PPT1_uc009vwa.2_Non-coding_Transcript	NM_000310	NP_000301	P50897	PPT1_HUMAN	Homo sapiens palmitoyl-protein thioesterase 1 (PPT1), transcript variant 1, mRNA.	115					DNA fragmentation involved in apoptotic nuclear change|brain development|cofactor metabolic process|cofactor transport|lysosomal lumen acidification|membrane raft organization|negative regulation of cell growth|negative regulation of neuron apoptosis|neuron development|pinocytosis|positive regulation of pinocytosis|positive regulation of receptor-mediated endocytosis|protein depalmitoylation|protein transport|receptor-mediated endocytosis|regulation of synapse structure and activity|sphingolipid catabolic process|visual perception	Golgi apparatus|axon|cytosol|lysosome|membrane fraction|membrane raft|nucleus|synaptic vesicle	palmitoyl-(protein) hydrolase activity|palmitoyl-CoA hydrolase activity			endometrium(5)|large_intestine(1)|lung(3)|ovary(1)|stomach(1)	11	Lung NSC(20;3.43e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1e-18)|Epithelial(16;3.6e-17)|all cancers(16;1.1e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CCTCCCTGGGAGAATCCCATA	0.388000														63			34		0	0	0.00128727	0	0
AP5M1	55745	broad.mit.edu	37	14	57752955	57752955	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr14:57752955C>T	uc001xcv.3	+	6	1735	c.1308C>T	c.(1306-1308)atC>atT	p.I436I	AP5M1_uc010tri.2_Silent_p.I190I|AP5M1_uc010trj.2_Silent_p.I333I	NM_018229	NP_060699	Q9H0R1	MUDEN_HUMAN	Homo sapiens MU-2/AP1M2 domain containing, death-inducing (MUDENG), transcript variant 1, mRNA.	436	MHD.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex											ATTTTAGGATCTTAGATTACA	0.343000														55			49		0	0	0.00361006	0	0
C16orf62	57020	broad.mit.edu	37	16	19693631	19693631	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr16:19693631G>A	uc002dgn.2	+	27	2761	c.2446G>A	c.(2446-2448)Gag>Aag	p.E816K	C16orf62_uc002dgo.2_Missense_Mutation_p.E812K|C16orf62_uc002dgp.2_Missense_Mutation_p.E565K	NM_020314	NP_064710	Q7Z3J2	CP062_HUMAN	Homo sapiens chromosome 16 open reading frame 62 (C16orf62), mRNA.	816						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						CAACAGCGATGAGAAAATCCG	0.532000														54			16		0	0	0.00316338	0	0
IL6ST	3572	broad.mit.edu	37	5	55265424	55265424	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:55265424G>A	uc003jqq.3	-	3	637	c.324C>T	c.(322-324)ttC>ttT	p.F108F	IL6ST_uc003jqp.3_Intron|IL6ST_uc010iwd.3_Intron|IL6ST_uc011cqk.2_5'UTR|IL6ST_uc003jqr.3_Silent_p.F108F|IL6ST_uc010iwb.3_Silent_p.F108F|IL6ST_uc010iwf.1_Intron	NM_002184	NP_002175	P40189	IL6RB_HUMAN	Homo sapiens interleukin 6 signal transducer (gp130, oncostatin M receptor) (IL6ST), transcript variant 1, mRNA.	108	Ig-like C2-type.				interleukin-6-mediated signaling pathway|leukemia inhibitory factor signaling pathway|negative regulation of interleukin-6-mediated signaling pathway|positive regulation of T cell proliferation|positive regulation of anti-apoptosis|positive regulation of cardiac muscle hypertrophy|positive regulation of osteoblast differentiation|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation vascular endothelial growth factor production	ciliary neurotrophic factor receptor complex|extracellular region|extracellular space|interleukin-6 receptor complex|oncostatin-M receptor complex	ciliary neurotrophic factor receptor activity|ciliary neurotrophic factor receptor binding|growth factor binding|protein homodimerization activity			breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)				CAAGCTGTCCGAATGTAAGAA	0.338000			O		hepatocellular ca									31			15		0	0	0.00400662	0	0
FLNC	2318	broad.mit.edu	37	7	128495345	128495345	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:128495345C>T	uc003vnz.4	+	42	7437	c.7228C>T	c.(7228-7230)Cgt>Tgt	p.R2410C	FLNC_uc003voa.4_Missense_Mutation_p.R2377C	NM_001458	NP_001449	Q14315	FLNC_HUMAN	Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA.	2410	Interaction with INPPL1.				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						TGACGCTCGCCGTCTCACTGT	0.592000														32			17		0	0	0.00074312	0	0
KRT4	3851	broad.mit.edu	37	12	53207707	53207707	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:53207707C>T	uc001saz.3	-	0	358	c.358G>A	c.(358-360)Gga>Aga	p.G120R		NM_002272	NP_002263	B4DRS2	B4DRS2_HUMAN	Homo sapiens keratin 4 (KRT4), mRNA.	46						keratin filament	structural molecule activity			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						CTGCCAAATCCCCCAGAAGAG	0.602000														108			34		0	0	0.00327116	0	0
AKNAD1	254268	broad.mit.edu	37	1	109395173	109395173	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:109395173C>T	uc001dwa.3	-	1	383	c.114G>A	c.(112-114)aaG>aaA	p.K38K	AKNAD1_uc010ovb.2_Intron|AKNAD1_uc001dwb.3_Non-coding_Transcript	NM_152763	NP_689976	Q5T1N1	AKND1_HUMAN	Homo sapiens AKNA domain containing 1 (AKNAD1), mRNA.	38										breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						CAAGGCCATCCTTTTTTGAGG	0.388000														77			56		0	0	0.00361006	0	0
NTRK3	4916	broad.mit.edu	37	15	88423523	88423523	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr15:88423523C>T	uc002bme.2	-	18	2618	c.2312G>A	c.(2311-2313)tGg>tAg	p.W771*	NTRK3_uc002bmh.2_Nonsense_Mutation_p.W749*|NTRK3_uc002bmf.2_Nonsense_Mutation_p.W757*|NTRK3_uc021sua.1_Nonsense_Mutation_p.W749*	NM_001012338	NP_001012338	Q16288	NTRK3_HUMAN	Homo sapiens neurotrophic tyrosine kinase, receptor, type 3 (NTRK3), transcript variant 1, mRNA.	771	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			GAGTTGGAACCATGGCTGCTT	0.507000			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)				39			80		0	0	0.00361006	0	0
PTPRT	11122	broad.mit.edu	37	20	41420048	41420048	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr20:41420048G>A	uc002xkg.3	-	2	457	c.273C>T	c.(271-273)ctC>ctT	p.L91L	PTPRT_uc010ggj.3_Silent_p.L91L	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	91	MAM.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GGGTTGGCAGGAGAAGGTGGG	0.547000														12			7		0	0	0.00307968	0	0
EYA2	2139	broad.mit.edu	37	20	45801394	45801394	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr20:45801394C>T	uc002xsm.3	+	11	1451	c.1077C>T	c.(1075-1077)gcC>gcT	p.A359A	EYA2_uc010ghp.3_Silent_p.A359A|EYA2_uc002xsq.3_Silent_p.A329A	NM_005244	NP_005235	O00167	EYA2_HUMAN	Homo sapiens eyes absent homolog 2 (Drosophila) (EYA2), transcript variant 1, mRNA.	359					DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	magnesium ion binding|protein binding|protein tyrosine phosphatase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0241)				ACAGTTCGGCCCCAGGAGCCA	0.632000														17			45		0	0	0.00361006	0	0
TTN	7273	broad.mit.edu	37	2	179645883	179645883	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:179645883C>T	uc021vsy.1	-	20	3713	c.3488G>A	c.(3487-3489)gGa>gAa	p.G1163E	TTN_uc021vsz.1_Missense_Mutation_p.G1117E|TTN_uc021vta.1_Missense_Mutation_p.G1117E|TTN_uc021vtb.1_Missense_Mutation_p.G1117E|TTN_uc002unb.2_Missense_Mutation_p.G1163E	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	1163	Ig-like 4.						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)			AGAAGTTTCTCCATGCTTATT	0.408000														58			12		0	0	0.000978159	0	0
ANGPT1	284	broad.mit.edu	37	8	108264096	108264096	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr8:108264096G>A	uc003ymn.3	-	8	1952	c.1484C>T	c.(1483-1485)cCt>cTt	p.P495L	ANGPT1_uc011lhv.2_Missense_Mutation_p.P295L|ANGPT1_uc003ymo.3_Missense_Mutation_p.P494L	NM_001146	NP_001137	Q15389	ANGP1_HUMAN	Homo sapiens angiopoietin 1 (ANGPT1), transcript variant 1, mRNA.	495	Fibrinogen C-terminal.				Tie receptor signaling pathway|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of ERK1 and ERK2 cascade|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis	extracellular space|membrane raft|microvillus|plasma membrane	receptor tyrosine kinase binding	p.R494Q(1)		NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	43	Breast(1;5.06e-08)		OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)			AAAATCTAAAGGTCGAATCAT	0.418000														59			26		0	0	0.000878237	0	0
SUSD4	55061	broad.mit.edu	37	1	223465812	223465812	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:223465812G>A	uc001hnx.3	-	1	964	c.330C>T	c.(328-330)atC>atT	p.I110I	SUSD4_uc001hny.4_Silent_p.I110I|SUSD4_uc010puw.2_5'UTR|SUSD4_uc001hnz.2_Silent_p.I110I|SUSD4_uc010pux.1_Intron	NM_017982	NP_060452	Q5VX71	SUSD4_HUMAN	Homo sapiens sushi domain containing 4 (SUSD4), transcript variant 1, mRNA.	110	Sushi 1.					integral to membrane				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(131;0.0611)		TATCACTTGGGATCCAGCCTA	0.498000														101			32		0	0	0.00428921	0	0
COL4A4	1286	broad.mit.edu	37	2	227920746	227920746	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:227920746C>T	uc021vxr.1	-	28	2732	c.2631G>A	c.(2629-2631)cgG>cgA	p.R877R	COL4A4_uc021vxs.1_Silent_p.R877R	NM_000092	NP_000083	P53420	CO4A4_HUMAN	Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.	877	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		GTGCCCCAGGCCGTCCTGGGA	0.622000														26			12		0	0	0.000978159	0	0
SEMA3F	6405	broad.mit.edu	37	3	50214261	50214261	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:50214261G>A	uc003cyj.3	+	6	808	c.610G>A	c.(610-612)Gat>Aat	p.D204N	SEMA3F_uc003cyk.3_Missense_Mutation_p.D173N	NM_004186	NP_004177	Q13275	SEM3F_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F (SEMA3F), mRNA.	204	Sema.				axon guidance	extracellular space|membrane	chemorepellent activity|receptor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	17				BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688)		GTGTCCGTACGATCCCAAGCT	0.607000														36			34		0	0	0.00128727	0	0
SLC38A8	146167	broad.mit.edu	37	16	84050173	84050173	+	Silent	SNP	G	A	A	rs113073498	byFrequency	TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr16:84050173G>A	uc002fhg.1	-	7	1113	c.1113C>T	c.(1111-1113)atC>atT	p.I371I		NM_001080442	NP_001073911	A6NNN8	S38A8_HUMAN	Homo sapiens solute carrier family 38, member 8 (SLC38A8), mRNA.	371					amino acid transport|sodium ion transport	integral to membrane				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						TGATGCTGACGATCTCGCTGA	0.592000														27			15		0	0	0.00074312	0	0
DNAH17	8632	broad.mit.edu	37	17	76457748	76457748	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr17:76457748G>A	uc010dhp.2	-	57	9342	c.9217C>T	c.(9217-9219)Ctc>Ttc	p.L3073F	DNAH17_uc002jvs.3_Non-coding_Transcript	NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TTCTGCTTGAGCTCAGCCTCC	0.567000														10			6		0	0	0.00198382	0	0
DNAH10	196385	broad.mit.edu	37	12	124350521	124350521	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:124350521C>T	uc001uft.4	+	39	6739	c.6714C>T	c.(6712-6714)tcC>tcT	p.S2238S		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	2238	AAA 2 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		AGTATGCCTCCCCTGCAACTG	0.363000														72			27		0	0	0.0024448	0	0
ADCY8	114	broad.mit.edu	37	8	131921957	131921957	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr8:131921957G>A	uc003ytd.4	-	5	1893	c.1637C>T	c.(1636-1638)cCt>cTt	p.P546L	ADCY8_uc010mds.3_Missense_Mutation_p.P546L	NM_001115	NP_001106	P40145	ADCY8_HUMAN	Homo sapiens adenylate cyclase 8 (brain) (ADCY8), mRNA.	546					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding	p.P546H(2)|p.I545I(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			ATCTTACCCAGGGATTCCTCC	0.453000										HNSCC(32;0.087)				115			48		0	0	0.00361006	0	0
NRG1	3084	broad.mit.edu	37	8	32621496	32621496	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr8:32621496C>T	uc003xiv.2	+	11	2016	c.1499C>T	c.(1498-1500)tCc>tTc	p.S500F	NRG1_uc022ats.1_Missense_Mutation_p.S450F|NRG1_uc010lvo.2_3'UTR|NRG1_uc003xiu.2_Missense_Mutation_p.S505F|NRG1_uc003xiw.2_Missense_Mutation_p.S497F|NRG1_uc003xit.2_3'UTR|NRG1_uc010lvr.2_Missense_Mutation_p.S242F|NRG1_uc010lvs.2_Missense_Mutation_p.S242F|NRG1_uc010lvp.2_Missense_Mutation_p.S454F|NRG1_uc010lvq.2_Missense_Mutation_p.S430F|NRG1_uc011lbg.1_3'UTR|NRG1_uc011lbh.1_Missense_Mutation_p.S343F|NRG1_uc003xja.2_Missense_Mutation_p.S311F	NM_013964	NP_039258	Q02297	NRG1_HUMAN	Homo sapiens neuregulin 1 (NRG1), transcript variant HRG-alpha, mRNA.	500					Notch signaling pathway|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	ErbB-3 class receptor binding|cytokine activity|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		CAGTTCAGCTCCTTCCACCAC	0.557000														24			18		0	0	0.00074312	0	0
SV2A	9900	broad.mit.edu	37	1	149879344	149879344	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:149879344G>A	uc001etg.3	-	9	2077	c.1586C>T	c.(1585-1587)tCc>tTc	p.S529F	SV2A_uc009wlk.3_5'Flank|SV2A_uc001eth.2_Missense_Mutation_p.S529F	NM_014849	NP_055664	Q7L0J3	SV2A_HUMAN	Homo sapiens synaptic vesicle glycoprotein 2A (SV2A), mRNA.	529					neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	p.D528E(1)		breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	TTCAAACAGGGAATCCTCAAA	0.493000														39			21		0	0	0.00188189	0	0
NPPA	4878	broad.mit.edu	37	1	11907840	11907840	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:11907840C>T	uc001ati.3	-	1	1	c.-98_splice	c.e1-1			NM_006172	NP_006163	P01160	ANF_HUMAN	Homo sapiens natriuretic peptide A (NPPA), mRNA.						cGMP biosynthetic process|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size	extracellular region	hormone activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00149)|all_lung(284;0.00189)|Breast(348;0.00586)|Colorectal(325;0.0062)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0556)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.04e-06)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|Kidney(185;0.000733)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GTCCCTGTCTCCCAGCTGCCC	0.577000														7			4		0	0	0.00024832	0	0
SUSD2	56241	broad.mit.edu	37	22	24579559	24579559	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr22:24579559C>T	uc002zzn.1	+	2	428	c.384C>T	c.(382-384)ttC>ttT	p.F128F		NM_019601	NP_062547	Q9UGT4	SUSD2_HUMAN	Homo sapiens sushi domain containing 2 (SUSD2), mRNA.	128					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						GCATCCCCTTCACTGTGTCAC	0.637000														35			18		0	0	0.00074312	0	0
NKAPL	222698	broad.mit.edu	37	6	28227361	28227361	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:28227361C>T	uc003nkt.3	+	0	264	c.212C>T	c.(211-213)tCg>tTg	p.S71L	ZKSCAN4_uc011dlb.1_5'Flank	NM_001007531	NP_001007532	Q5M9Q1	NKAPL_HUMAN	Homo sapiens NFKB activating protein-like (NKAPL), mRNA.	71										breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						CGCTCTGGGTCGCGAGGGCGG	0.607000														59			18		0	0	0.00074312	0	0
LMOD1	25802	broad.mit.edu	37	1	201868835	201868835	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:201868835C>T	uc021phl.1	-	1	1554	c.1306G>A	c.(1306-1308)Gag>Aag	p.E436K	LMOD1_uc021phm.1_Missense_Mutation_p.E436K|LMOD1_uc010ppu.2_Missense_Mutation_p.E385K	NM_012134	NP_036266	P29536	LMOD1_HUMAN	Homo sapiens leiomodin 1 (smooth muscle) (LMOD1), mRNA.	436					muscle contraction	cytoskeleton|cytosol|membrane fraction	tropomyosin binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						TTGGCGATCTCCATCTCCGTC	0.592000														27			11		0	0	0.000673444	0	0
WDFY3	23001	broad.mit.edu	37	4	85731467	85731467	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr4:85731467G>A	uc003hpd.3	-	13	2326	c.1918C>T	c.(1918-1920)Cgt>Tgt	p.R640C	WDFY3_uc003hpf.3_Missense_Mutation_p.R640C	NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	Homo sapiens WD repeat and FYVE domain containing 3 (WDFY3), mRNA.	640						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		GTTCTTGAACGATGGCTTTCT	0.388000														16			11		0	0	0.000673444	0	0
SCN9A	6335	broad.mit.edu	37	2	167108321	167108321	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:167108321C>T	uc010fpl.3	-	17	3734	c.3393G>A	c.(3391-3393)gaG>gaA	p.E1131E	BC051759_uc002udp.3_Non-coding_Transcript	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA.	1142						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	TAGGTTCAGCCTCTGCTTCTT	0.463000														40			14		0	0	0.00244969	0	0
CD177	57126	broad.mit.edu	37	19	43858083	43858083	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:43858083C>T	uc002owi.3	+	1	173	c.131C>T	c.(130-132)cCt>cTt	p.P44L	CD177_uc021uvf.1_Missense_Mutation_p.P44L|CD177_uc010eis.3_Non-coding_Transcript|CD177_uc002owj.3_Non-coding_Transcript	NM_020406	NP_065139	Q8N6Q3	CD177_HUMAN	Homo sapiens CD177 molecule (CD177), mRNA.	44					blood coagulation|leukocyte migration	anchored to membrane|plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5		Prostate(69;0.00682)				CAATGGACCCCTAAGAACACC	0.622000														34			24		0	0	0.00332997	0	0
PTPRT	11122	broad.mit.edu	37	20	41306568	41306568	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr20:41306568C>T	uc002xkg.3	-	6	1275	c.1091G>A	c.(1090-1092)cGa>cAa	p.R364Q	PTPRT_uc010ggj.3_Missense_Mutation_p.R364Q	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	364	Fibronectin type-III 1.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				CTCACCTGGTCGTGTGAGGAG	0.562000														52			11		0	0	0.000673444	0	0
MUC16	94025	broad.mit.edu	37	19	9075932	9075932	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:9075932C>T	uc002mkp.3	-	2	11718	c.11514G>A	c.(11512-11514)gtG>gtA	p.V3838V		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	3839	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						TGTGTGGGATCACATCCAGAG	0.512000														80			36		0	0	0.00375469	0	0
PYHIN1	149628	broad.mit.edu	37	1	158912139	158912139	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:158912139C>T	uc001ftb.3	+	4	1202	c.952C>T	c.(952-954)Cac>Tac	p.H318Y	PYHIN1_uc001ftc.3_Missense_Mutation_p.H309Y|PYHIN1_uc001ftd.3_Missense_Mutation_p.H318Y|PYHIN1_uc001fte.3_Missense_Mutation_p.H309Y	NM_152501	NP_689714	Q6K0P9	IFIX_HUMAN	Homo sapiens pyrin and HIN domain family, member 1 (PYHIN1), transcript variant 1, mRNA.	318	HIN-200.				cell cycle	nuclear speck				breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(112;0.0378)					CAATATTCTTCACAAACAAAC	0.358000														34			13		0	0	0.00244969	0	0
OR4X1	390113	broad.mit.edu	37	11	48286288	48286288	+	Silent	SNP	G	A	A	rs140713653		TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:48286288G>A	uc010rht.2	+	0	876	c.876G>A	c.(874-876)gtG>gtA	p.V292V		NM_001004726	NP_001004726	Q8NH49	OR4X1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily X, member 1 (OR4X1), mRNA.	292					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V292V(2)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	28						ATGCTGAAGTGAAAAATGCCA	0.413000														40			9		0	0	0.000274275	0	0
FAT3	120114	broad.mit.edu	37	11	92533014	92533014	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:92533014G>A	uc001pdj.4	+	8	6852	c.6835G>A	c.(6835-6837)Gat>Aat	p.D2279N		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	2279	Cadherin 20.				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)				GCTAGTTAATGATGTAAATGA	0.413000										TCGA Ovarian(4;0.039)				244			184		0	0	0.00361006	0	0
MYH2	4620	broad.mit.edu	37	17	10440997	10440997	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr17:10440997G>A	uc010coi.3	-	14	1700	c.1572C>T	c.(1570-1572)atC>atT	p.I524I	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Silent_p.I524I|MYH2_uc010coj.3_Silent_p.I524I	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.	524	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CGATGAGCTCGATGCAGGCAG	0.433000														42			43		0	0	0.00361006	0	0
SLC5A8	160728	broad.mit.edu	37	12	101581190	101581190	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:101581190C>T	uc001thz.4	-	6	1327	c.937G>A	c.(937-939)Gcc>Acc	p.A313T		NM_145913	NP_666018	Q8N695	SC5A8_HUMAN	Homo sapiens solute carrier family 5 (iodide transporter), member 8 (SLC5A8), mRNA.	313					apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						ACTTTCTTGGCTGTCCAAGGA	0.433000														32			21		0	0	0.00278032	0	0
SHANK3	85358	broad.mit.edu	37	22	51160137	51160137	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr22:51160137C>T	uc003bne.1	+	21	3924	c.3924C>T	c.(3922-3924)tcC>tcT	p.S1308S	SHANK3_uc003bnf.1_Silent_p.S755S	NM_001080420	NP_001073889	F2Z3L0	F2Z3L0_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 3 (SHANK3), mRNA.	1308										central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)	8		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.22)		AGCTGTCGTCCAGCGATGAGG	0.672000														10			7		0	0	0.000442599	0	0
ADAM7	8756	broad.mit.edu	37	8	24350052	24350052	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr8:24350052G>A	uc003xeb.3	+	14	1710	c.1597G>A	c.(1597-1599)Gga>Aga	p.G533R	ADAM7_uc003xec.3_Missense_Mutation_p.G305R	NM_003817	NP_003808	Q9H2U9	ADAM7_HUMAN	Homo sapiens ADAM metallopeptidase domain 7 (ADAM7), mRNA.	533	Cys-rich.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	p.G533E(1)		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)		GAATACAAAAGGAAATAAATT	0.343000														118			29		0	0	0.00375469	0	0
DCLRE1C	64421	broad.mit.edu	37	10	14950820	14950820	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr10:14950820C>T	uc001inn.3	-	13	1751	c.1666G>A	c.(1666-1668)Gat>Aat	p.D556N	DCLRE1C_uc010qbx.2_Intron|DCLRE1C_uc001ink.3_Missense_Mutation_p.D209N|DCLRE1C_uc001inl.3_Missense_Mutation_p.D436N|DCLRE1C_uc001inr.3_Missense_Mutation_p.D441N|DCLRE1C_uc009xji.3_Missense_Mutation_p.D441N|DCLRE1C_uc001inm.3_Missense_Mutation_p.D436N|DCLRE1C_uc001ino.3_Missense_Mutation_p.D441N|DCLRE1C_uc009xjh.3_Non-coding_Transcript|DCLRE1C_uc001inp.3_Missense_Mutation_p.D436N|DCLRE1C_uc001inq.3_Missense_Mutation_p.D436N|DCLRE1C_uc021pni.1_Missense_Mutation_p.D441N	NM_001033855	NP_001029027	Q96SD1	DCR1C_HUMAN	Homo sapiens DNA cross-link repair 1C (DCLRE1C), transcript variant a, mRNA.	556					DNA recombination	nucleus	5'-3' exonuclease activity|single-stranded DNA specific endodeoxyribonuclease activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	17						AAAACAGTATCAGATTGGCTG	0.438000								Non-homologous end-joining						66			30		0	0	0.00283554	0	0
GBP3	2635	broad.mit.edu	37	1	89476671	89476671	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:89476671C>T	uc001dmt.3	-	7	1483	c.1278G>A	c.(1276-1278)tcG>tcA	p.S426S	GBP3_uc010oss.2_Silent_p.S347S|GBP3_uc001dmu.3_Silent_p.S292S|GBP3_uc001dmv.3_Intron|GBP3_uc021opp.1_Silent_p.S399S	NM_018284	NP_060754	Q9H0R5	GBP3_HUMAN	Homo sapiens guanylate binding protein 3 (GBP3), mRNA.	426						integral to membrane	GTP binding|GTPase activity			breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(277;0.123)		all cancers(265;0.0103)|Epithelial(280;0.0293)		CCCCTGGTTTCGAATAAATTC	0.413000														262			69		0	0	0.00361006	0	0
KRT27	342574	broad.mit.edu	37	17	38936698	38936698	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr17:38936698C>T	uc002hvg.3	-	2	579	c.538G>A	c.(538-540)Gag>Aag	p.E180K		NM_181537	NP_853515	Q7Z3Y8	K1C27_HUMAN	Homo sapiens keratin 27 (KRT27), mRNA.	180	Coil 1B.|Rod.					cytoplasm|intermediate filament	structural molecule activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(3)|skin(1)|stomach(1)	21		Breast(137;0.000812)				AGCGCTAGCTCGTTTTCAAAC	0.453000														19			17		0	0	0.00229938	0	0
LDLR	3949	broad.mit.edu	37	19	11240220	11240220	+	Silent	SNP	C	T	T	rs139647768		TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:11240220C>T	uc002mqk.4	+	16	2608	c.2421C>T	c.(2419-2421)ttC>ttT	p.F807F	LDLR_uc010xlk.2_Silent_p.F807F|LDLR_uc010xll.2_Silent_p.F766F|LDLR_uc021upc.1_Silent_p.F686F|LDLR_uc010xln.2_Silent_p.F629F|LDLR_uc010xlo.2_Silent_p.F639F|LDLR_uc010xlm.2_Silent_p.F660F|LDLR_uc021upd.1_Silent_p.F544F|LDLR_uc010dxu.3_5'UTR	NM_000527	NP_000518	P01130	LDLR_HUMAN	Homo sapiens low density lipoprotein receptor (LDLR), transcript variant 1, mRNA.	807					cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis	clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome	calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity	p.F807F(2)		breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	Methyl aminolevulinate(DB00992)|Porfimer(DB00707)	TGGGGGTCTTCCTTCTATGGA	0.552000														218			69		0	0	0.00361006	0	0
RALGAPA1	253959	broad.mit.edu	37	14	36207788	36207788	+	Silent	SNP	A	G	G			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr14:36207788A>G	uc001wtj.3	-	11	1909	c.1518T>C	c.(1516-1518)ggT>ggC	p.G506G	RALGAPA1_uc001wti.3_Silent_p.G506G|RALGAPA1_uc010tpv.2_Silent_p.G506G|RALGAPA1_uc010tpw.1_Silent_p.G506G|RALGAPA1_uc001wtk.1_Silent_p.G357G	NM_194301	NP_919277	Q6GYQ0	RGPA1_HUMAN	Homo sapiens Ral GTPase activating protein, alpha subunit 1 (catalytic) (RALGAPA1), transcript variant 2, mRNA.	506					activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	Ral GTPase activator activity|protein heterodimerization activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TATGAAGAGCACCTTGGTAGG	0.398000														49			31		0	0	0.000953801	0	0
KCNA1	3736	broad.mit.edu	37	12	5021546	5021546	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:5021546C>T	uc001qnh.3	+	1	2107	c.1002C>T	c.(1000-1002)ttC>ttT	p.F334F	KCNA1_uc021qts.1_Silent_p.F334F	NM_000217	NP_000208	Q09470	KCNA1_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia) (KCNA1), mRNA.	334					synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity			NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	TTTTCCTCTTCATCGGGGTCA	0.547000														63			21		0	0	0.00121646	0	0
BAI3	577	broad.mit.edu	37	6	70071080	70071080	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:70071080A>T	uc010kak.3	+	27	4191	c.3915A>T	c.(3913-3915)gaA>gaT	p.E1305D	BAI3_uc003pev.4_Missense_Mutation_p.E1305D|BAI3_uc011dxx.2_Missense_Mutation_p.E511D	NM_001704	NP_001695	O60242	BAI3_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 3 (BAI3), mRNA.	1305					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				GAATGATGGAAAGTGACTATA	0.388000														21			15		0	0	0.00316338	0	0
SH2D3A	10045	broad.mit.edu	37	19	6760879	6760879	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:6760879G>A	uc002mft.3	-	2	383	c.189C>T	c.(187-189)ttC>ttT	p.F63F	SH2D3A_uc010xjg.2_Intron	NM_005490	NP_005481	Q9BRG2	SH23A_HUMAN	Homo sapiens SH2 domain containing 3A (SH2D3A), mRNA.	63	SH2.				JNK cascade|small GTPase mediated signal transduction	intracellular	SH3/SH2 adaptor activity|guanyl-nucleotide exchange factor activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|urinary_tract(1)	24						GGGCCACACGGAACACCTCAA	0.622000														30			13		0	0	0.00185496	0	0
CD163L1	283316	broad.mit.edu	37	12	7550860	7550860	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:7550860C>T	uc010sge.2	-	7	1785	c.1759_splice	c.e7+1	p.G587_splice	CD163L1_uc001qsy.3_Splice_Site_p.G577_splice	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	Homo sapiens CD163 molecule-like 1 (CD163L1), mRNA.	577	SRCR 6.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						CAAGTCTTACCTGAGCAGGTT	0.393000														32			15		0	0	0.00316338	0	0
CECR2	27443	broad.mit.edu	37	22	18028630	18028630	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr22:18028630C>T	uc010gqw.1	+	15	3581	c.3581C>T	c.(3580-3582)cCc>cTc	p.P1194L	CECR2_uc010gqv.1_Missense_Mutation_p.P1054L|CECR2_uc002zml.2_Missense_Mutation_p.P1055L|CECR2_uc002zmo.2_Non-coding_Transcript	NM_031413	NP_113601	Q9BXF3	CECR2_HUMAN	Homo sapiens cat eye syndrome chromosome region, candidate 2 (CECR2), mRNA.	1238					DNA fragmentation involved in apoptotic nuclear change|chromatin modification|cytokinesis|cytoskeleton organization|vesicle-mediated transport		protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		CCTCTCCATCCCCAGGGAAGC	0.582000														27			11		0	0	0.000673444	0	0
CLSTN2	64084	broad.mit.edu	37	3	140178397	140178397	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:140178397C>T	uc003etn.3	+	6	1198	c.1008C>T	c.(1006-1008)tcC>tcT	p.S336S	CLSTN2_uc003etm.2_Silent_p.S336S	NM_022131	NP_071414	Q9H4D0	CSTN2_HUMAN	Homo sapiens calsyntenin 2 (CLSTN2), mRNA.	336					homophilic cell adhesion	Golgi membrane|endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						TCTTGCCATCCCCTAGCGCTG	0.557000										HNSCC(16;0.037)				51			19		0	0	0.00152264	0	0
MEF2B	100271849	broad.mit.edu	37	19	19257591	19257591	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:19257591G>A	uc002nlp.2	-	7	1362	c.635C>T	c.(634-636)cCt>cTt	p.P212L	MEF2B_uc002nll.2_Missense_Mutation_p.P212L|MEF2B_uc010xqo.1_Missense_Mutation_p.P212L|MEF2B_uc010xqp.1_Missense_Mutation_p.P212L|MEF2B_uc002nlo.2_Missense_Mutation_p.P212L|MEF2B_uc002nlk.2_Missense_Mutation_p.P215L	NM_005919	NP_005910			Homo sapiens MEF2BNB-MEF2B readthrough (MEF2BNB-MEF2B), transcript variant 1, mRNA.											breast(1)|haematopoietic_and_lymphoid_tissue(21)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(5;0.00011)|Epithelial(12;0.00412)			CAGGCCACCAGGCAGGTCTGA	0.677000														26			7		0	0	0.00307968	0	0
OR14C36	127066	broad.mit.edu	37	1	248512475	248512475	+	Silent	SNP	C	T	T	rs150366522		TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:248512475C>T	uc010pzl.2	+	0	399	c.399C>T	c.(397-399)atC>atT	p.I133I		NM_001001918	NP_001001918	Q8NHC7	O14CZ_HUMAN	Homo sapiens olfactory receptor, family 14, subfamily C, member 36 (OR14C36), mRNA.	133					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2)	43						ACCCTGTGATCGTGAACTCTC	0.507000														35			19		0	0	0.00229938	0	0
CR1	1378	broad.mit.edu	37	1	207758215	207758215	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:207758215C>T	uc001hfy.3	+	24	4314	c.4174C>T	c.(4174-4176)Cgt>Tgt	p.R1392C	CR1_uc009xcl.1_Missense_Mutation_p.R942C|CR1_uc001hfx.3_Missense_Mutation_p.R1842C|CR1_uc021pij.1_Missense_Mutation_p.R1392C	NM_000573	NP_000564	P17927	CR1_HUMAN	Homo sapiens complement component (3b/4b) receptor 1 (Knops blood group) (CR1), transcript variant F, mRNA.	1392					complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						ACTTTCTGTTCGTGCTGGTCA	0.488000														61			32		0	0	0.0024448	0	0
FAM190A	401145	broad.mit.edu	37	4	91229803	91229803	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr4:91229803G>A	uc003hsv.4	+	1	708	c.368G>A	c.(367-369)cGa>cAa	p.R123Q	FAM190A_uc003hsu.3_Missense_Mutation_p.R123Q|FAM190A_uc010ikv.2_Non-coding_Transcript|FAM190A_uc003hsw.3_Missense_Mutation_p.R123Q	NM_001145065	NP_001138537	Q9C0I3	F190A_HUMAN	Homo sapiens family with sequence similarity 190, member A (FAM190A), transcript variant 1, mRNA.	123										NS(2)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22						AGTAGTTCACGAAATAAGAAG	0.363000														24			24		0	0	0.00332997	0	0
PSG2	5670	broad.mit.edu	37	19	43579626	43579626	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:43579626C>T	uc002ovr.3	-	2	761	c.589G>A	c.(589-591)Gaa>Aaa	p.E197K	PSG4_uc010xwk.1_Intron	NM_031246	NP_112536	P11465	PSG2_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 2 (PSG2), mRNA.	197	Ig-like C2-type 1.				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)				CTGTTGGTTTCGGACAGCTGA	0.498000														196			89		0	0	0.00361006	0	0
CEP250	11190	broad.mit.edu	37	20	34095953	34095954	+	Missense_Mutation	DNP	CC	TT	TT	rs148942784		TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr20:34095953_34095954CC>TT	uc021wco.1	+	31	7487_7488	c.6840_6841CC>TT	c.(6838-6843)gcccgg>gcTTgg	p.R2281W	CEP250_uc010zve.2_Missense_Mutation_p.R1649W	NM_007186	NP_009117	Q9BV73	CP250_HUMAN	Homo sapiens centrosomal protein 250kDa (CEP250), mRNA.	2281					G2/M transition of mitotic cell cycle|centriole-centriole cohesion|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			AAGCAGTGGCCCGGCTGGAGAT	0.579000														87			35		0	0	6.4e-05	0	0
RNASET2	8635	broad.mit.edu	37	6	167343100	167343100	+	Silent	SNP	G	A	A	rs76894173		TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:167343100G>A	uc003qve.3	-	8	1154	c.747C>T	c.(745-747)ccC>ccT	p.P249P	RNASET2_uc003qvf.3_Silent_p.P157P	NM_003730	NP_003721	O00584	RNT2_HUMAN	Homo sapiens ribonuclease T2 (RNASET2), mRNA.	249					RNA catabolic process	extracellular region	RNA binding|ribonuclease T2 activity			large_intestine(4)|lung(4)	8		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;1.53e-19)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00665)		TTTTAGGTGGGGGATAGAAGA	0.502000														234			100		0	0	0.00361006	0	0
FANCC	2176	broad.mit.edu	37	9	97873870	97873870	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr9:97873870C>T	uc022bkl.1	-	12	1408	c.1204G>A	c.(1204-1206)Gga>Aga	p.G402R	FANCC_uc004avh.3_Missense_Mutation_p.G402R|FANCC_uc004avi.4_Missense_Mutation_p.G402R	NM_001243743	NP_001230672	Q00597	FANCC_HUMAN	Homo sapiens Fanconi anemia, complementation group C (FANCC), transcript variant 2, mRNA.	402					protein complex assembly	cytosol|nucleoplasm	protein binding			kidney(1)|skin(1)|upper_aerodigestive_tract(1)	3		Acute lymphoblastic leukemia(62;0.138)				TCAGCCCATCCTCCGAAGTGA	0.567000			"""D, Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia					77			27		0	0	0.00209593	0	0
CRYGC	1420	broad.mit.edu	37	2	208993004	208993004	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:208993004C>T	uc002vco.4	-	2	486	c.448G>A	c.(448-450)Gag>Aag	p.E150K	LOC100507443_uc021vvt.1_Intron|CRYGD_uc021vvu.1_Intron	NM_020989	NP_066269	P07315	CRGC_HUMAN	Homo sapiens crystallin, gamma C (CRYGC), mRNA.	150	Beta/gamma crystallin 'Greek key' 4.				visual perception	cytoplasm|nucleus	protein binding|structural constituent of eye lens			NS(1)|endometrium(1)|large_intestine(2)|lung(5)	9				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133)		CGCCTGTACTCTTGGGGCCTC	0.582000														56			29		0	0	0.001512	0	0
FOXB1	27023	broad.mit.edu	37	15	60297304	60297305	+	Missense_Mutation	DNP	CC	TA	TA			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr15:60297304_60297305CC>TA	uc002agj.1	+	1	621_622	c.142_143CC>TA	c.(142-144)ccc>TAc	p.P48Y	FOXB1_uc010bgh.1_Intron|FOXB1_uc021sna.1_Missense_Mutation_p.P48Y	NM_012182	NP_036314	Q99853	FOXB1_HUMAN	Homo sapiens forkhead box B1 (FOXB1), mRNA.	48					axon target recognition|cell migration in diencephalon|epithelial cell differentiation involved in mammary gland alveolus development|floor plate development|hypothalamus cell migration|inferior colliculus development|lactation|mammillothalamic axonal tract development|negative regulation of neuron apoptosis|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|telencephalon cell migration|visual learning	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			central_nervous_system(1)|kidney(1)|lung(3)|ovary(1)	6						GGACCGCTTCCCCTACTACAGG	0.594000														29			22		0	0	6.4e-05	0	0
ZNF679	168417	broad.mit.edu	37	7	63726909	63726909	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:63726909G>A	uc003tsx.3	+	4	1167	c.898G>A	c.(898-900)Gaa>Aaa	p.E300K		NM_153363	NP_699194	Q8IYX0	ZN679_HUMAN	Homo sapiens zinc finger protein 679 (ZNF679), mRNA.	300					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						CACATGTGAAGAATGTGGCAA	0.443000														30			13		0	0	0.00316338	0	0
OTUD7A	161725	broad.mit.edu	37	15	31795993	31795993	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr15:31795993C>T	uc001zfq.3	-	6	994	c.901G>A	c.(901-903)Gag>Aag	p.E301K	OTUD7A_uc001zfr.3_Missense_Mutation_p.E308K	NM_130901	NP_570971	Q8TE49	OTU7A_HUMAN	Homo sapiens OTU domain containing 7A (OTUD7A), mRNA.	301	Catalytic (By similarity).|OTU.|TRAF-binding (By similarity).					cytoplasm|nucleus	DNA binding|cysteine-type peptidase activity|zinc ion binding	p.E301K(2)		endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	30		all_lung(180;1.6e-09)		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)		TCCAGGCTCTCGTACACGGGG	0.493000														14			28		0	0	0.00106085	0	0
HTR4	3360	broad.mit.edu	37	5	147928410	147928410	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:147928410G>A	uc021yfj.1	-	2	221	c.174C>T	c.(172-174)ttC>ttT	p.F58F	HTR4_uc021yfg.1_Silent_p.F58F|HTR4_uc021yfh.1_Silent_p.F58F|HTR4_uc010jgu.1_Non-coding_Transcript|HTR4_uc021yfi.1_Silent_p.F58F|HTR4_uc011dby.1_Silent_p.F58F|HTR4_uc003lpn.3_Silent_p.F58F|HTR4_uc010jgv.3_Non-coding_Transcript|HTR4_uc021yfk.1_Silent_p.F58F	NM_001040173	NP_001035263	Q13639	5HT4R_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 4 (HTR4), transcript variant i, mRNA.	58					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cell proliferation	endosome|integral to plasma membrane|membrane fraction	serotonin receptor activity			endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Cisapride(DB00604)|Rizatriptan(DB00953)|Tegaserod(DB01079)|Zolmitriptan(DB00315)	GAGATACAATGAAATAATTTG	0.453000														18			6		0	0	0.00198382	0	0
RFX6	222546	broad.mit.edu	37	6	117246660	117246660	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:117246660C>T	uc003pxm.3	+	15	1786	c.1723C>T	c.(1723-1725)Ctg>Ttg	p.L575L		NM_173560	NP_775831	Q8HWS3	RFX6_HUMAN	Homo sapiens regulatory factor X, 6 (RFX6), mRNA.	575					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						TTCATGCTTTCTGGCCAACCG	0.458000														112			62		0	0	0.00361006	0	0
DBX2	440097	broad.mit.edu	37	12	45417608	45417608	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:45417608C>T	uc001rok.1	-	2	741	c.569G>A	c.(568-570)aGa>aAa	p.R190K		NM_001004329	NP_001004329	Q6ZNG2	DBX2_HUMAN	Homo sapiens developing brain homeobox 2 (DBX2), mRNA.	190						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	22	Lung SC(27;0.192)	Lung NSC(34;0.142)		GBM - Glioblastoma multiforme(48;0.0515)		AAAGACAGCTCTTCTTAAAAT	0.443000														74			37		0	0	0.00428921	0	0
MYH1	4619	broad.mit.edu	37	17	10417143	10417143	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr17:10417143G>A	uc002gmo.3	-	7	830	c.736C>T	c.(736-738)Cgc>Tgc	p.R246C	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	246	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						CTTACAAAGCGAGAGGAGTTG	0.498000														20			19		0	0	0.00278032	0	0
POLE	5426	broad.mit.edu	37	12	133236048	133236048	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:133236048G>C	uc001uks.1	-	25	3152	c.3108C>G	c.(3106-3108)aaC>aaG	p.N1036K	POLE_uc001ukr.1_5'Flank|POLE_uc010tbq.1_Non-coding_Transcript|POLE_uc009zyu.1_Missense_Mutation_p.N1009K	NM_006231	NP_006222	Q07864	DPOE1_HUMAN	Homo sapiens polymerase (DNA directed), epsilon (POLE), mRNA.	1036					DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	DNA binding|DNA-directed DNA polymerase activity|chromatin binding|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		ACATGGAACGGTTCTCAGAGA	0.527000								DNA polymerases (catalytic subunits)						40			11		0	0	0.00136819	0	0
TM9SF2	9375	broad.mit.edu	37	13	100207847	100207847	+	Silent	SNP	T	G	G			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr13:100207847T>G	uc001voj.1	+	14	1831	c.1698T>G	c.(1696-1698)gtT>gtG	p.V566V	TM9SF2_uc010afz.1_Silent_p.V401V	NM_004800	NP_004791	Q99805	TM9S2_HUMAN	Homo sapiens transmembrane 9 superfamily member 2 (TM9SF2), mRNA.	566					transport	endosome membrane|integral to plasma membrane				endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)	17	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.218)					TCATTTTGGTTATTACCTGTT	0.328000														50			16		0	0	0.000566183	0	0
GPC6	10082	broad.mit.edu	37	13	93879808	93879809	+	Missense_Mutation	DNP	CC	AT	AT			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr13:93879808_93879809CC>AT	uc001vlt.3	+	0	731_732	c.99_100CC>AT	c.(97-102)gtccgc>gtATgc	p.R34C	GPC6_uc010tig.1_Missense_Mutation_p.R34C	NM_005708	NP_005699	Q9Y625	GPC6_HUMAN	Homo sapiens glypican 6 (GPC6), mRNA.	34						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	p.R34R(1)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	38	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)				GCGGAGAGGTCCGCCAGGCGTA	0.683000											OREG0022460	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		16			9		0	0	6.4e-05	0	0
AMPD3	272	broad.mit.edu	37	11	10516551	10516551	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:10516551G>A	uc001min.1	+	7	1612	c.1267G>A	c.(1267-1269)Gga>Aga	p.G423R	AMPD3_uc010rbz.1_Missense_Mutation_p.G255R|AMPD3_uc009yfw.1_Non-coding_Transcript|AMPD3_uc001mio.1_Missense_Mutation_p.G414R|AMPD3_uc009yfz.2_Non-coding_Transcript|AMPD3_uc001mip.1_Missense_Mutation_p.G421R|AMPD3_uc009yfy.2_Missense_Mutation_p.G414R	NM_000480	NP_001165902	Q01432	AMPD3_HUMAN	Homo sapiens adenosine monophosphate deaminase 3 (AMPD3), transcript variant 1, mRNA.	414					AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1)	25				all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)		CTATCTGGGAGGAGAGTACTT	0.532000														101			35		0	0	0.00170553	0	0
SLC17A3	10786	broad.mit.edu	37	6	25862543	25862543	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:25862543G>A	uc003nfk.4	-	2	331	c.221C>T	c.(220-222)tCc>tTc	p.S74F	SLC17A3_uc003nfi.4_Missense_Mutation_p.S74F|SLC17A3_uc011djz.1_Missense_Mutation_p.S74F|SLC17A3_uc011dka.1_Missense_Mutation_p.S74F	NM_001098486	NP_001091956	O00476	NPT4_HUMAN	Homo sapiens solute carrier family 17 (sodium phosphate), member 3 (SLC17A3), transcript variant 1, mRNA.	74					glucose-6-phosphate transport|urate metabolic process	apical plasma membrane|brush border membrane|endoplasmic reticulum membrane|integral to plasma membrane|perinuclear region of cytoplasm	drug transmembrane transporter activity|efflux transmembrane transporter activity|organic anion transmembrane transporter activity|sodium:phosphate symporter activity|toxin transporter activity|urate transmembrane transporter activity|voltage-gated anion channel activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)	20						ATTGAGCTGGGATTGAGGGCT	0.448000														76			21		0	0	0.00152264	0	0
GLT1D1	144423	broad.mit.edu	37	12	129442178	129442178	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:129442178C>T	uc010tbh.1	+	11	893	c.884C>T	c.(883-885)tCc>tTc	p.S295F	GLT1D1_uc001uhx.1_Missense_Mutation_p.S210F|GLT1D1_uc001uhy.1_Non-coding_Transcript	NM_144669	NP_653270	Q96MS3	GL1D1_HUMAN	Homo sapiens glycosyltransferase 1 domain containing 1 (GLT1D1), mRNA.	290					biosynthetic process	extracellular region	transferase activity, transferring glycosyl groups			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.97e-06)|Epithelial(86;3.97e-05)|all cancers(50;0.00019)		CTACTGTTTTCCAATCCTCAG	0.448000														20			7		0	0	0.00307968	0	0
OR6C75	390323	broad.mit.edu	37	12	55759585	55759585	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:55759585C>T	uc010spk.2	+	0	691	c.691C>T	c.(691-693)Caa>Taa	p.Q231*		NM_001005497	NP_001005497	A6NL08	O6C75_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 75 (OR6C75), mRNA.	231					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)	25						TTCTATGAGTCAAAGGAAAAA	0.383000														47			23		0	0	0.00278032	0	0
FCRL5	83416	broad.mit.edu	37	1	157485454	157485454	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:157485454G>A	uc009wsm.3	-	16	3093	c.2935C>T	c.(2935-2937)Ctc>Ttc	p.L979F	FCRL5_uc001fqu.3_3'UTR	NM_001195388	NP_001182317	Q96RD9	FCRL5_HUMAN	Homo sapiens Fc receptor-like 5 (FCRL5), transcript variant 2, mRNA.	0						integral to membrane|plasma membrane	receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				CAGTTGGAGAGACGTGTGGAC	0.537000														118			51		0	0	0.00361006	0	0
DACH2	117154	broad.mit.edu	37	X	86069749	86069749	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chrX:86069749C>T	uc004eew.2	+	9	1766	c.1596C>T	c.(1594-1596)gcC>gcT	p.A532A	DACH2_uc004eex.2_Silent_p.A519A|DACH2_uc010nmq.2_Silent_p.A398A|DACH2_uc011mra.1_Silent_p.A365A|DACH2_uc010nmr.2_Silent_p.A313A|DACH2_uc004eey.3_Silent_p.A225A|DACH2_uc004eez.3_Silent_p.A215A	NM_053281	NP_001132987	Q96NX9	DACH2_HUMAN	Homo sapiens dachshund homolog 2 (Drosophila) (DACH2), transcript variant 1, mRNA.	532	DACHbox-C.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						TGCAGGAAGCCTTGGAATTTG	0.433000														18			23		0	0	0.00188189	0	0
KHDRBS2	202559	broad.mit.edu	37	6	62887203	62887203	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:62887203G>A	uc003peg.2	-	1	353	c.106C>T	c.(106-108)Caa>Taa	p.Q36*		NM_152688	NP_689901	Q5VWX1	KHDR2_HUMAN	Homo sapiens KH domain containing, RNA binding, signal transduction associated 2 (KHDRBS2), mRNA.	36					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)		TCAGAACCTTGAAACTTTTCA	0.303000														12			10		0	0	0.000442599	0	0
ROCK1	6093	broad.mit.edu	37	18	18539836	18539836	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr18:18539836C>T	uc002kte.3	-	28	4418	c.3477G>A	c.(3475-3477)aaG>aaA	p.K1159K		NM_005406	NP_005397	Q13464	ROCK1_HUMAN	Homo sapiens Rho-associated, coiled-coil containing protein kinase 1 (ROCK1), mRNA.	1159	Auto-inhibitory.|PH.				Rho protein signal transduction|actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking	Golgi membrane|centriole|cytosol	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					TGGATTGCTCCTTATCTTGTT	0.328000														32			9		0	0	0.000673444	0	0
GRN	2896	broad.mit.edu	37	17	42429912	42429912	+	Silent	SNP	G	A	A	rs34100802		TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr17:42429912G>A	uc002igp.1	+	11	1836	c.1617G>A	c.(1615-1617)caG>caA	p.Q539Q		NM_002087	NP_002078	P28799	GRN_HUMAN	Homo sapiens granulin (GRN), mRNA.	539					signal transduction	extracellular space	cytokine activity|growth factor activity			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		ACAACCGACAGGGCTGGGCCT	0.652000														35			42		0	0	0.00148497	0	0
ADIPOR1	51094	broad.mit.edu	37	1	202915711	202915711	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:202915711G>A	uc001gyq.4	-	3	553	c.286C>T	c.(286-288)Cca>Tca	p.P96S	ADIPOR1_uc010pqd.2_Missense_Mutation_p.P20S|ADIPOR1_uc001gyr.4_5'UTR|ADIPOR1_uc001gys.4_Missense_Mutation_p.P96S	NM_015999	NP_057083	Q96A54	ADR1_HUMAN	Homo sapiens adiponectin receptor 1 (ADIPOR1), transcript variant 1, mRNA.	96					fatty acid oxidation|hormone-mediated signaling pathway	integral to membrane|plasma membrane	hormone binding|protein kinase binding|receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	16			BRCA - Breast invasive adenocarcinoma(75;0.141)			ACATCATATGGGATGACCCTC	0.507000														57			13		0	0	0.00244969	0	0
HDAC9	9734	broad.mit.edu	37	7	18767315	18767315	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:18767315C>T	uc003sui.3	+	11	1885	c.1844C>T	c.(1843-1845)tCc>tTc	p.S615F	HDAC9_uc003sue.3_Missense_Mutation_p.S612F|HDAC9_uc011jyd.2_Missense_Mutation_p.S612F|HDAC9_uc003suh.3_Missense_Mutation_p.S612F|HDAC9_uc003suj.3_Missense_Mutation_p.S571F|HDAC9_uc003sua.1_Missense_Mutation_p.S590F|HDAC9_uc010kue.1_Missense_Mutation_p.S267F	NM_178425	NP_848512	Q9UKV0	HDAC9_HUMAN	Homo sapiens histone deacetylase 9 (HDAC9), transcript variant 5, mRNA.	612					B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	ACTCACTCTTCCCCTGCTGCC	0.587000														11			6		0	0	0.00116845	0	0
SGPL1	8879	broad.mit.edu	37	10	72633179	72633179	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr10:72633179C>T	uc001jrm.3	+	11	1353	c.1131C>T	c.(1129-1131)ttC>ttT	p.F377F	SGPL1_uc009xqk.3_Non-coding_Transcript	NM_003901	NP_003892	O95470	SGPL1_HUMAN	Homo sapiens sphingosine-1-phosphate lyase 1 (SGPL1), mRNA.	377					apoptosis|carboxylic acid metabolic process|ceramide metabolic process|sphingolipid catabolic process	integral to endoplasmic reticulum membrane	carboxy-lyase activity|pyridoxal phosphate binding|sphinganine-1-phosphate aldolase activity			large_intestine(4)	4					Pyridoxal Phosphate(DB00114)	ATCAGTTCTTCGTCGATACAG	0.502000														47			38		0	0	0.00222228	0	0
TRPM6	140803	broad.mit.edu	37	9	77339583	77339584	+	Missense_Mutation	DNP	CT	TA	TA			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr9:77339583_77339584CT>TA	uc004ajl.1	-	38	6252_6253	c.6014_6015AG>TA	c.(6013-6015)gag>gTA	p.E2005V	TRPM6_uc004ajk.1_Missense_Mutation_p.E2000V|TRPM6_uc022bib.1_Missense_Mutation_p.E2000V|TRPM6_uc010mpb.1_Non-coding_Transcript|TRPM6_uc010mpc.1_Missense_Mutation_p.E956V|TRPM6_uc010mpd.1_Missense_Mutation_p.E838V|TRPM6_uc010mpe.1_Missense_Mutation_p.E552V|TRPM6_uc004ajj.1_Missense_Mutation_p.E961V	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 6 (TRPM6), transcript variant a, mRNA.	2005					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						TTGCTGGAGGCTCCTCAGCTGA	0.436000														63			51		0	0	6.4e-05	0	0
OR52E8	390079	broad.mit.edu	37	11	5878020	5878020	+	Nonsense_Mutation	SNP	G	A	A	rs142656457		TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:5878020G>A	uc010qzr.2	-	0	913	c.913C>T	c.(913-915)Cga>Tga	p.R305*	TRIM5_uc001mbq.1_Intron	NM_001005168	NP_001005168	Q6IFG1	O52E8_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily E, member 8 (OR52E8), mRNA.	305					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R305*(2)		endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114)		Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACTCTCTCTCGAATCTGCTTT	0.418000														98			46		0	0	0.00361006	0	0
NLRC5	84166	broad.mit.edu	37	16	57054867	57054867	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr16:57054867G>A	uc021tiu.1	+	1	370	c.243G>A	c.(241-243)gaG>gaA	p.E81E	NLRC5_uc021tit.1_Silent_p.E81E|NLRC5_uc010ccq.1_Non-coding_Transcript	NM_032206	NP_115582	Q86WI3	NLRC5_HUMAN	Homo sapiens NLR family, CARD domain containing 5 (NLRC5), mRNA.	81					defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|RNA polymerase II core promoter sequence-specific DNA binding|protein binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				TGCAGCTGGAGGTGCCTCTGG	0.552000														19			8		0	0	0.000274275	0	0
PET112	5188	broad.mit.edu	37	4	152637244	152637244	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr4:152637244G>A	uc003iml.3	-	4	721	c.680C>T	c.(679-681)tCc>tTc	p.S227F	PET112_uc003imm.4_Missense_Mutation_p.S227F	NM_004564	NP_004555	O75879	GATB_HUMAN	Homo sapiens PET112 homolog (yeast) (PET112), nuclear gene encoding mitochondrial protein, mRNA.	227						mitochondrion	ATP binding|carbon-nitrogen ligase activity, with glutamine as amido-N-donor|translation factor activity, nucleic acid binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	23					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	TTCTCCACAGGACATGTCGGG	0.577000														21			8		0	0	0.000442599	0	0
TBP	6908	broad.mit.edu	37	6	170871052	170871052	+	Silent	SNP	G	A	A	rs112083427		TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:170871052G>A	uc003qxu.3	+	2	507	c.228G>A	c.(226-228)caG>caA	p.Q76Q	TBP_uc011ehf.2_Silent_p.Q56Q|TBP_uc003qxt.3_Silent_p.Q76Q|TBP_uc011ehg.1_Silent_p.Q76Q	NM_003194	NP_001165556	P20226	TBP_HUMAN	Homo sapiens TATA box binding protein (TBP), transcript variant 1, mRNA.	76	Poly-Gln.				cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding	p.Q76Q(8)|p.Q75Q(2)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		agcaacagcagcagcagcagc	0.572000														25			6		0	0	0.00116845	0	0
CASP8AP2	9994	broad.mit.edu	37	6	90573247	90573247	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:90573247C>T	uc003pnr.3	+	6	2015	c.1819C>T	c.(1819-1821)Ccc>Tcc	p.P607S	CASP8AP2_uc003pns.2_Intron|CASP8AP2_uc003pnt.3_Missense_Mutation_p.P607S|CASP8AP2_uc011dzz.2_Missense_Mutation_p.P607S	NM_001137667	NP_001131139	Q9UKL3	C8AP2_HUMAN	Homo sapiens caspase 8 associated protein 2 (CASP8AP2), transcript variant 2, mRNA.	607					cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|nucleus	caspase activator activity|death receptor binding|transcription corepressor activity			NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		GGCATATGTTCCCTCCATAAG	0.423000														11			6		0	0	0.00307968	0	0
LRP1B	53353	broad.mit.edu	37	2	141108456	141108456	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:141108456C>T	uc002tvj.1	-	76	12774	c.11802G>A	c.(11800-11802)atG>atA	p.M3934I		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	3934					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.D3933Y(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TCCAAATAATCATATCTCTTT	0.333000										TSP Lung(27;0.18)				66			32		0	0	0.0024448	0	0
PRRT3	285368	broad.mit.edu	37	3	9991216	9991216	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:9991216C>T	uc003bul.2	-	1	714	c.584G>A	c.(583-585)aGg>aAg	p.R195K	CIDEC_uc003bto.3_Intron|PRRT3_uc003buk.2_Non-coding_Transcript|PRRT3_uc003bum.3_Missense_Mutation_p.R195K	NM_207351	NP_997234	Q5FWE3	PRRT3_HUMAN	Homo sapiens proline-rich transmembrane protein 3 (PRRT3), mRNA.	195						integral to membrane				NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(1)|skin(1)|stomach(2)	13						GGGTGGGACCCTGCTCTTAGT	0.597000														18			14		0	0	0.00316338	0	0
ZNF12	7559	broad.mit.edu	37	7	6730531	6730531	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:6730531C>T	uc003sqt.1	-	4	2596	c.2042G>A	c.(2041-2043)aGa>aAa	p.R681K	ZNF12_uc011jxa.1_Missense_Mutation_p.R519K|ZNF12_uc003sqs.1_Missense_Mutation_p.R643K	NM_016265	NP_057349	P17014	ZNF12_HUMAN	Homo sapiens zinc finger protein 12 (ZNF12), transcript variant 1, mRNA.	681					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(3)	16		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0231)		CCTATGAATTCTCTGATGGCT	0.378000														36			8		0	0	0.00307968	0	0
FOXF2	2295	broad.mit.edu	37	6	1390486	1390486	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:1390486C>T	uc003mtm.3	+	0	418	c.304C>T	c.(304-306)Ccc>Tcc	p.P102S		NM_001452	NP_001443	Q12947	FOXF2_HUMAN	Homo sapiens forkhead box F2 (FOXF2), mRNA.	102					epithelial to mesenchymal transition|genitalia development|palate development|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding			large_intestine(2)|lung(5)|prostate(1)	8	Ovarian(93;0.0733)	all_lung(73;0.0713)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.095)		CGAGAAGCCGCCCTACTCGTA	0.731000														14			14		0	0	0.00400662	0	0
GBF1	8729	broad.mit.edu	37	10	104126904	104126904	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr10:104126904C>T	uc001kux.2	+	19	2787	c.2493C>T	c.(2491-2493)atC>atT	p.I831I	GBF1_uc001kuy.2_Silent_p.I831I|GBF1_uc001kuz.2_Silent_p.I832I	NM_004193	NP_004184	Q92538	GBF1_HUMAN	Homo sapiens golgi brefeldin A resistant guanine nucleotide exchange factor 1 (GBF1), transcript variant 1, mRNA.	831	SEC7.				COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		ATGCTGTCATCATGCTTAATA	0.493000														47			46		0	0	0.00361006	0	0
RPTN	126638	broad.mit.edu	37	1	152127456	152127456	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:152127456C>T	uc001ezs.1	-	2	2184	c.2119G>A	c.(2119-2121)Gaa>Aaa	p.E707K		NM_001122965	NP_001116437	Q6XPR3	RPTN_HUMAN	Homo sapiens repetin (RPTN), mRNA.	707	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						CCCTGCTCTTCCTCTGCCCAG	0.562000														117			54		0	0	0.00361006	0	0
OR2A1	346528	broad.mit.edu	37	7	143929689	143929689	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:143929689T>C	uc011kub.2	-	0	248	c.248A>G	c.(247-249)aAc>aGc	p.N83S		NM_001005287	NP_001005287	Q8NGT9	OR2A1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 1 (OR2A1), mRNA.	83					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|lung(3)|skin(2)	6	Melanoma(164;0.14)					ATGCAGGAGGTTCGCCAGCAT	0.572000														27			18		0	0	0.00121646	0	0
MGAM	8972	broad.mit.edu	37	7	141722180	141722180	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:141722180C>T	uc003vwy.3	+	6	877	c.823C>T	c.(823-825)Cgg>Tgg	p.R275W		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	275	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CCAGCAGTATCGGCATGATAT	0.493000														75			38		0	0	0.0025221	0	0
NOS3	4846	broad.mit.edu	37	7	150695477	150695477	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:150695477G>A	uc003wif.3	+	5	911	c.615G>A	c.(613-615)caG>caA	p.Q205Q	NOS3_uc011kuy.2_5'UTR|NOS3_uc011kva.2_Silent_p.Q205Q|NOS3_uc011kuz.2_Silent_p.Q205Q|NOS3_uc011kvb.2_Silent_p.Q205Q	NM_000603	NP_000594	P29474	NOS3_HUMAN	Homo sapiens nitric oxide synthase 3 (endothelial cell) (NOS3), transcript variant 1, mRNA.	205	Interaction with NOSIP.				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	Golgi membrane|caveola|cytoskeleton|cytosol	FMN binding|NADP binding|actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	GGTCTGCACAGGAAATGTTCA	0.617000														24			9		0	0	0.000673444	0	0
LMBRD1	55788	broad.mit.edu	37	6	70408946	70408946	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:70408946A>G	uc003pfa.3	-	12	1603	c.1327T>C	c.(1327-1329)Tac>Cac	p.Y443H	LMBRD1_uc003pez.3_Missense_Mutation_p.Y370H|LMBRD1_uc010kal.3_Missense_Mutation_p.Y370H|LMBRD1_uc003pfb.3_Non-coding_Transcript	NM_018368	NP_060838	Q9NUN5	LMBD1_HUMAN	Homo sapiens LMBR1 domain containing 1 (LMBRD1), mRNA.	443					interspecies interaction between organisms|transport	integral to membrane|lysosomal membrane	cobalamin binding	p.Y443*(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	31						TCTATTAAGTAATTTTGGCTT	0.289000														43			15		0	0	0.00074312	0	0
BMP10	27302	broad.mit.edu	37	2	69093461	69093461	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:69093461C>T	uc002sez.1	-	1	736	c.577G>A	c.(577-579)Gga>Aga	p.G193R		NM_014482	NP_055297	O95393	BMP10_HUMAN	Homo sapiens bone morphogenetic protein 10 (BMP10), mRNA.	193					BMP signaling pathway|Notch signaling pathway|activin receptor signaling pathway|adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle cell proliferation|heart trabecula formation|negative regulation of cardiac muscle hypertrophy|negative regulation of cell growth|negative regulation of endothelial cell migration|pathway-restricted SMAD protein phosphorylation|positive regulation of cardiac muscle cell proliferation|positive regulation of cardiac muscle hypertrophy|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent|sarcomere organization|ventricular cardiac muscle cell development|ventricular cardiac muscle tissue morphogenesis	Z disc|cell surface|extracellular space	cytokine activity|growth factor activity|receptor serine/threonine kinase binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(15)|ovary(2)	27						CTGTTGGTTCCATATATCTCC	0.483000														37			11		0	0	0.000978159	0	0
ASXL3	80816	broad.mit.edu	37	18	31318725	31318725	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr18:31318725G>A	uc010dmg.1	+	10	1412	c.1357G>A	c.(1357-1359)Gaa>Aaa	p.E453K	ASXL3_uc002kxq.2_Missense_Mutation_p.E160K	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA.	453					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						AATTCAGGAGGAAATTGCAGA	0.393000														62			14		0	0	0.000566183	0	0
BCLAF1	9774	broad.mit.edu	37	6	136590638	136590638	+	Missense_Mutation	SNP	C	T	T	rs147964608	byFrequency	TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:136590638C>T	uc003qgx.1	-	8	2409	c.2156G>A	c.(2155-2157)gGa>gAa	p.G719E	BCLAF1_uc011edb.1_5'Flank|BCLAF1_uc003qgy.1_Missense_Mutation_p.G717E|BCLAF1_uc011edc.1_Non-coding_Transcript|BCLAF1_uc011edd.1_Non-coding_Transcript|BCLAF1_uc011ede.1_Missense_Mutation_p.G717E|BCLAF1_uc003qgw.1_Missense_Mutation_p.G546E	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN	Homo sapiens BCL2-associated transcription factor 1 (BCLAF1), transcript variant 1, mRNA.	719					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		CTTTCTTGATCCACTGGATTC	0.408000														97			7		0	0	0.00307968	0	0
OR13C3	138803	broad.mit.edu	37	9	107299020	107299020	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr9:107299020G>A	uc004bcb.1	-	0	75	c.75C>T	c.(73-75)ttC>ttT	p.F25F		NM_001001961	NP_001001961	Q8NGS6	O13C3_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 3 (OR13C3), mRNA.	25					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(1)|skin(1)	19						CTGCTTTCAGGAAATCAAAAG	0.348000														35			14		0	0	0.00244969	0	0
PRF1	5551	broad.mit.edu	37	10	72358237	72358237	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr10:72358237G>A	uc009xqg.3	-	2	1401	c.1240C>T	c.(1240-1242)Ctg>Ttg	p.L414L	PRF1_uc001jrf.4_Silent_p.L414L	NM_001083116	NP_005032	P14222	PERF_HUMAN	Homo sapiens perforin 1 (pore forming protein) (PRF1), transcript variant 2, mRNA.	414					apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization	cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane	calcium ion binding|protein binding|wide pore channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3)	23						AGCTGGGCCAGGCCCCTCTGC	0.652000			M			"""various leukaemia, lymphoma"""	Type 2 familial hemophagocytic lymphohistiocytosis		Familial Hemophagocytic Lymphohistiocytosis					2			8		0	0	0.000274275	0	0
AACS	65985	broad.mit.edu	37	12	125609554	125609554	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:125609554C>T	uc001uhc.3	+	11	1499	c.1293C>T	c.(1291-1293)ctC>ctT	p.L431L	AACS_uc001uhd.3_Silent_p.L431L|AACS_uc009zyh.3_Intron|AACS_uc009zyi.3_Silent_p.L29L	NM_023928	NP_076417	Q86V21	AACS_HUMAN	Homo sapiens acetoacetyl-CoA synthetase (AACS), mRNA.	431					fatty acid metabolic process	cytosol	ATP binding|acetoacetate-CoA ligase activity			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|liver(1)|lung(16)|ovary(1)|stomach(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843)		GCAGCATCCTCCTGGGCTCCA	0.592000														67			22		0	0	0.00332997	0	0
MARCH3	115123	broad.mit.edu	37	5	126206432	126206432	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:126206432G>A	uc003kuf.3	-	4	1110	c.655C>T	c.(655-657)Cag>Tag	p.Q219*		NM_178450	NP_848545	Q86UD3	MARH3_HUMAN	Homo sapiens membrane-associated ring finger (C3HC4) 3 (MARCH3), mRNA.	219					endocytosis	cytoplasmic vesicle membrane|early endosome membrane|integral to membrane|lysosome	ligase activity|zinc ion binding			large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	6		Prostate(80;0.0928)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.074)|OV - Ovarian serous cystadenocarcinoma(64;0.0793)		ATCACCCTCTGATTGGTCCGA	0.488000														28			20		0	0	0.00278032	0	0
SIK3	23387	broad.mit.edu	37	11	116728595	116728595	+	Nonsense_Mutation	SNP	C	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:116728595C>A	uc001ppy.3	-	19	3304	c.3268G>T	c.(3268-3270)Gaa>Taa	p.E1090*	SIK3_uc001ppz.3_Nonsense_Mutation_p.E929*|SIK3_uc001pqa.3_Nonsense_Mutation_p.E1030*|SIK3_uc001ppw.3_Nonsense_Mutation_p.E447*|SIK3_uc001ppx.3_Nonsense_Mutation_p.E468*|SIK3_uc001pqb.3_Nonsense_Mutation_p.E393*	NM_025164	NP_079440	Q9Y2K2	SIK3_HUMAN	Homo sapiens SIK family kinase 3 (SIK3), mRNA.	1090						cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						ATCCCCAATTCTTGGGCATGA	0.507000														142			121		3.16226e-57	1.00106e-56	0.00361006	1	0
ALK	238	broad.mit.edu	37	2	29462669	29462669	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:29462669C>T	uc002rmy.3	-	12	3184	c.2232G>A	c.(2230-2232)ggG>ggA	p.G744G		NM_004304	NP_004295	Q9UM73	ALK_HUMAN	Homo sapiens anaplastic lymphoma receptor tyrosine kinase (ALK), mRNA.	744					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	TCCCGCCTTTCCCGCCAGCAG	0.592000			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome					28			10		0	0	0.000978159	0	0
NPAS1	4861	broad.mit.edu	37	19	47535945	47535945	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:47535945C>T	uc002pfw.3	+	4	673	c.477C>T	c.(475-477)ttC>ttT	p.F159F	NPAS1_uc002pfy.3_Silent_p.F159F|NPAS1_uc010xyj.2_5'Flank	NM_002517	NP_002508	Q99742	NPAS1_HUMAN	Homo sapiens neuronal PAS domain protein 1 (NPAS1), mRNA.	159	PAS 1.				central nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)	6		all_cancers(25;4.31e-08)|all_epithelial(76;2.96e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.102)		all cancers(93;6.02e-05)|OV - Ovarian serous cystadenocarcinoma(262;7.35e-05)|Epithelial(262;0.00389)|GBM - Glioblastoma multiforme(486;0.0252)		AAGGAAAATTCCTCTACATCT	0.577000											OREG0025585	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		46			22		0	0	0.00278032	0	0
FAM71C	196472	broad.mit.edu	37	12	100042121	100042121	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:100042121G>A	uc001tgn.3	+	0	594	c.169G>A	c.(169-171)Gga>Aga	p.G57R	ANKS1B_uc001tge.2_Intron|ANKS1B_uc001tgf.2_Intron|ANKS1B_uc009ztt.1_Intron	NM_153364	NP_699195	Q8NEG0	FA71C_HUMAN	Homo sapiens family with sequence similarity 71, member C (FAM71C), mRNA.	57										breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(2;0.00733)|Epithelial(2;0.0385)|all cancers(2;0.19)		CAGCAAAAGAGGAGAAGTGAT	0.527000														54			22		0	0	0.000720815	0	0
TTN	7273	broad.mit.edu	37	2	179589234	179589234	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:179589234C>T	uc021vsy.1	-	68	17361	c.17136G>A	c.(17134-17136)ccG>ccA	p.P5712P	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.P2373P	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	6639	Ig-like 38.						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)			TCACCGTCATCGGTCCTGCCT	0.478000														29			9		0	0	0.000442599	0	0
MSLN	10232	broad.mit.edu	37	16	813661	813661	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr16:813661G>A	uc002cjw.2	+	3	260	c.149G>A	c.(148-150)gGa>gAa	p.G50E	MSLN_uc002cju.1_Missense_Mutation_p.G50E|MSLN_uc002cjt.1_Missense_Mutation_p.G50E|MSLN_uc010brd.1_Missense_Mutation_p.G49E|MSLN_uc002cjy.1_5'Flank	NM_013404	NP_037536	Q13421	MSLN_HUMAN	Homo sapiens mesothelin (MSLN), transcript variant 2, mRNA.	50					cell adhesion	Golgi apparatus|anchored to membrane|extracellular region|plasma membrane		p.G50R(1)		breast(2)|kidney(2)|lung(11)|pancreas(1)|prostate(1)|skin(3)	20		Hepatocellular(780;0.00335)				CCCCTGGACGGAGTCCTGGCC	0.667000														12			4		0	0	0.00116845	0	0
PCDH17	27253	broad.mit.edu	37	13	58207409	58207409	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr13:58207409C>T	uc001vhq.1	+	0	1621	c.729C>T	c.(727-729)ttC>ttT	p.F243F	PCDH17_uc010aec.1_Silent_p.F243F	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	Homo sapiens protocadherin 17 (PCDH17), mRNA.	243	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		GCCCGGTCTTCGAGGCGCCAT	0.612000														61			20		0	0	0.000958276	0	0
ODF2	4957	broad.mit.edu	37	9	131260759	131260759	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr9:131260759A>C	uc004bvc.3	+	18	2358	c.2272A>C	c.(2272-2274)Atc>Ctc	p.I758L	ODF2_uc004bvb.3_Missense_Mutation_p.I670L|ODF2_uc011mbd.2_Missense_Mutation_p.I694L|ODF2_uc011mbe.2_Missense_Mutation_p.I689L|ODF2_uc004bvd.4_Missense_Mutation_p.I694L|ODF2_uc004bvh.3_Missense_Mutation_p.I100L	NM_153435	NP_702913	Q5BJF6	ODFP2_HUMAN	Homo sapiens outer dense fiber of sperm tails 2 (ODF2), transcript variant 1, mRNA.	694					G2/M transition of mitotic cell cycle|cell differentiation|multicellular organismal development|spermatogenesis	centriole|cilium|cytosol|microtubule|spindle pole	protein binding|structural molecule activity			autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	37						GGAGGAGGCAATCCACCAGTC	0.562000														62			20		0	0	0.00395357	0	0
abParts	0	broad.mit.edu	37	14	106744117	106744117	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr14:106744117C>T	uc021ser.1	-	810		c.20381_splice	c.e810+1		LINC00226_uc021seu.1_5'Flank					Parts of antibodies, mostly variable regions.																		CACTGATGATCCCATAGCTGT	0.502000														16			4		0	0	0.000602214	0	0
HSD17B2	3294	broad.mit.edu	37	16	82101929	82101929	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr16:82101929G>A	uc002fgv.3	+	1	592	c.420G>A	c.(418-420)acG>acA	p.T140T		NM_002153	NP_002144	P37059	DHB2_HUMAN	Homo sapiens hydroxysteroid (17-beta) dehydrogenase 2 (HSD17B2), mRNA.	140					response to retinoic acid|steroid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity|binding|estradiol 17-beta-dehydrogenase activity|testosterone 17-beta-dehydrogenase (NAD+) activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	10					NADH(DB00157)	TGGACATCACGAAGCCAGTGC	0.537000														18			4		0	0	0.00024832	0	0
CD86	942	broad.mit.edu	37	3	121828152	121828152	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:121828152G>A	uc003eet.3	+	4	872	c.744G>A	c.(742-744)tgG>tgA	p.W248*	CD86_uc011bjo.2_Nonsense_Mutation_p.W166*|CD86_uc011bjp.2_Nonsense_Mutation_p.W136*|CD86_uc003eeu.3_Nonsense_Mutation_p.W242*|CD86_uc021xcz.1_Intron	NM_175862	NP_008820	P42081	CD86_HUMAN	Homo sapiens CD86 molecule (CD86), transcript variant 1, mRNA.	248					T cell costimulation|interspecies interaction between organisms|positive regulation of T-helper 2 cell differentiation|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of transcription, DNA-dependent		coreceptor activity|protein binding			breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	23				GBM - Glioblastoma multiforme(114;0.156)	Abatacept(DB01281)	ACATTCCTTGGATTACAGCTG	0.413000														64			28		0	0	0.000878237	0	0
COX10	1352	broad.mit.edu	37	17	14110257	14110257	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr17:14110257C>T	uc002gof.4	+	6	1263	c.1059C>T	c.(1057-1059)tgC>tgT	p.C353C	COX10_uc010vvs.2_Silent_p.C136C|COX10_uc010vvt.2_Silent_p.C161C	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.	353					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)		CGGGCCTGTGCCGGCGCGTGG	0.667000														16			18		0	0	0.00152264	0	0
PIK3CG	5294	broad.mit.edu	37	7	106509196	106509196	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:106509196G>A	uc003vdv.4	+	1	1275	c.1190G>A	c.(1189-1191)aGg>aAg	p.R397K	PIK3CG_uc003vdu.3_Missense_Mutation_p.R397K|PIK3CG_uc003vdw.3_Missense_Mutation_p.R397K	NM_002649	NP_002640	P48736	PK3CG_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, gamma polypeptide (PIK3CG), mRNA.	397					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						CTTTGCCAAAGGAGAACCAGC	0.502000														43			12		0	0	0.00316338	0	0
CES5A	221223	broad.mit.edu	37	16	55886868	55886868	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr16:55886868G>A	uc021tir.1	-	10	1431	c.1285C>T	c.(1285-1287)Cga>Tga	p.R429*	CES5A_uc002eip.2_Nonsense_Mutation_p.R400*|CES5A_uc002eio.2_Nonsense_Mutation_p.R400*|CES5A_uc002eiq.2_Nonsense_Mutation_p.R161*|CES5A_uc002eir.2_Nonsense_Mutation_p.R294*	NM_001190158	NP_001177087	Q6NT32	EST5A_HUMAN	Homo sapiens carboxylesterase 5A (CES5A), transcript variant 3, mRNA.	400						extracellular region	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity	p.T428M(1)		breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						AGACTGTCTCGGATTTCAGTC	0.478000														26			28		0	0	0.00106085	0	0
PTPRN2	5799	broad.mit.edu	37	7	157691392	157691392	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:157691392C>T	uc003wno.3	-	11	1882	c.1761G>A	c.(1759-1761)ctG>ctA	p.L587L	PTPRN2_uc003wnp.3_Silent_p.L570L|PTPRN2_uc003wnq.3_Silent_p.L558L|PTPRN2_uc003wnr.3_Silent_p.L549L|PTPRN2_uc011kwa.2_Silent_p.L610L	NM_002847	NP_002838	Q92932	PTPR2_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, N polypeptide 2 (PTPRN2), transcript variant 1, mRNA.	587						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)		GAAGAATTTTCAGTCCAGAGG	0.522000														145			72		0	0	0.00361006	0	0
TSPAN33	340348	broad.mit.edu	37	7	128807634	128807634	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:128807634C>T	uc003vop.2	+	7	880	c.771C>T	c.(769-771)tcC>tcT	p.S257S	TSPAN33_uc003voq.2_Silent_p.S89S	NM_178562	NP_848657	Q86UF1	TSN33_HUMAN	Homo sapiens tetraspanin 33 (TSPAN33), mRNA.	257						integral to membrane				NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	14						TTCTGCTGTCCCAGATCCTAG	0.542000														16			6		0	0	0.00116845	0	0
SHANK2	22941	broad.mit.edu	37	11	70333553	70333553	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:70333553C>T	uc001oqc.3	-	20	2759	c.2647G>A	c.(2647-2649)Ggg>Agg	p.G883R	SHANK2_uc010rqn.2_Missense_Mutation_p.G359R|SHANK2_uc001opz.3_Missense_Mutation_p.G354R|BC127192_uc009ysn.1_Intron|SHANK2_uc001opy.3_Intron	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 2 (SHANK2), transcript variant 1, mRNA.	570					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|SH3 domain binding|ionotropic glutamate receptor binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			AAGTACATCCCCTTCTCCCTC	0.582000														12			11		0	0	0.00136819	0	0
CEP97	79598	broad.mit.edu	37	3	101476477	101476477	+	Splice_Site	SNP	G	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:101476477G>T	uc003dvk.1	+	9	1055	c.1028_splice	c.e9-1	p.E343_splice	CEP97_uc010hpm.1_Splice_Site_p.E309_splice|CEP97_uc011bhf.1_Intron|CEP97_uc003dvl.1_Splice_Site_p.E39_splice|CEP97_uc003dvm.1_Splice_Site_p.E181_splice	NM_024548	NP_078824	Q8IW35	CEP97_HUMAN	Homo sapiens centrosomal protein 97kDa (CEP97), mRNA.	343	CEP110 binding.					centrosome|nucleus	protein binding			cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						GATTCTTCTAGAACCCGTCAT	0.328000														25			10		3.86212e-05	0.000121118	0.000673444	1	0
SIRPG	55423	broad.mit.edu	37	20	1616917	1616917	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr20:1616917G>A	uc002wfm.1	-	2	730	c.665C>T	c.(664-666)tCt>tTt	p.S222F	SIRPG_uc002wfn.1_Missense_Mutation_p.S222F|SIRPG_uc002wfo.1_Intron|AK093519_uc002wfp.1_Intron	NM_018556	NP_061026	Q9P1W8	SIRPG_HUMAN	Homo sapiens signal-regulatory protein gamma (SIRPG), transcript variant 1, mRNA.	222	Ig-like C1-type 1.				blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of T cell activation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion	integral to membrane|intracellular|plasma membrane	protein binding	p.R221C(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1)	27						GATGACCTGAGAGCGAACGTC	0.617000														37			17		0	0	0.00074312	0	0
HCRTR2	3062	broad.mit.edu	37	6	55113604	55113604	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:55113604C>T	uc003pcl.3	+	1	706	c.391C>T	c.(391-393)Cct>Tct	p.P131S	HCRTR2_uc010jzv.3_Non-coding_Transcript|HCRTR2_uc010jzw.1_Missense_Mutation_p.P66S	NM_001526	NP_001517	O43614	OX2R_HUMAN	Homo sapiens hypocretin (orexin) receptor 2 (HCRTR2), mRNA.	131					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)			CAAAGTGATTCCTTATCTACA	0.428000														127			50		0	0	0.00361006	0	0
TPTE	7179	broad.mit.edu	37	21	10914379	10914379	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr21:10914379G>A	uc002yip.1	-	20	1708	c.1340C>T	c.(1339-1341)tCa>tTa	p.S447L	TPTE_uc002yis.1_Non-coding_Transcript|TPTE_uc002yiq.1_Missense_Mutation_p.S429L|TPTE_uc002yir.1_Missense_Mutation_p.S409L|TPTE_uc010gkv.1_Missense_Mutation_p.S309L	NM_199261	NP_954870	P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA.	447	C2 tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TTTTCCTAATGAAATAGTGGA	0.328000														65			7		0	0	0.00307968	0	0
HMCN1	83872	broad.mit.edu	37	1	186008000	186008000	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:186008000C>T	uc001grq.1	+	37	6120	c.5891C>T	c.(5890-5892)tCc>tTc	p.S1964F		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	1964	Ig-like C2-type 17.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CTCTCAGGTTCCACCAGCATG	0.363000														67			23		0	0	0.000878237	0	0
CPA2	1358	broad.mit.edu	37	7	129909544	129909544	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:129909544G>A	uc003vpq.3	+	2	208	c.189G>A	c.(187-189)gaG>gaA	p.E63E	CPA2_uc011kpc.1_Silent_p.E63E	NM_001869	NP_001860	P48052	CBPA2_HUMAN	Homo sapiens carboxypeptidase A2 (pancreatic) (CPA2), mRNA.	63					proteolysis|vacuolar protein catabolic process	extracellular region|vacuole	metallocarboxypeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Melanoma(18;0.0435)					CCCCAGGGGAGACAGCCCACG	0.512000														36			17		0	0	0.000958276	0	0
SETD5	55209	broad.mit.edu	37	3	9476509	9476509	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:9476509G>A	uc003brt.3	+	6	765	c.330_splice	c.e6-1	p.R110_splice	SETD5_uc003brs.1_Splice_Site_p.R91_splice|SETD5_uc003bru.3_Splice_Site|SETD5_uc003brv.3_Splice_Site	NM_001080517	NP_001073986	Q9C0A6	SETD5_HUMAN	Homo sapiens SET domain containing 5 (SETD5), mRNA.	110										NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		CCTCTTTAGGGGAATGAGCAG	0.458000														9			4		0	0	0.00024832	0	0
CLCA1	1179	broad.mit.edu	37	1	86951181	86951181	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:86951181C>T	uc001dlt.3	+	5	1151	c.891C>T	c.(889-891)ttC>ttT	p.F297F	CLCA1_uc001dls.1_Silent_p.F236F	NM_001285	NP_001276	A8K7I4	CLCA1_HUMAN	Homo sapiens chloride channel accessory 1 (CLCA1), mRNA.	297					calcium ion transport	extracellular space|integral to plasma membrane	chloride channel activity			NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Lung NSC(277;0.239)		all cancers(265;0.0249)|Epithelial(280;0.0476)		ATCCCACCTTCTCATTGCTGC	0.443000														97			24		0	0	0.00106085	0	0
CD300A	11314	broad.mit.edu	37	17	72469840	72469840	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr17:72469840G>A	uc002jkv.3	+	1	527	c.206G>A	c.(205-207)gGa>gAa	p.G69E	CD300A_uc002jkw.3_Intron|CD300A_uc010dfr.3_Intron|CD300A_uc010dfs.3_Intron	NM_007261	NP_009192	Q9UGN4	CLM8_HUMAN	Homo sapiens CD300a molecule (CD300A), mRNA.	69	Ig-like V-type.				cell adhesion	integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(4)|urinary_tract(1)	16						GGGTCAGCAGGAAAAAGGAAC	0.517000														46			25		0	0	0.00127121	0	0
ABCA12	26154	broad.mit.edu	37	2	215890416	215890416	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:215890416G>A	uc002vew.3	-	10	1488	c.1268C>T	c.(1267-1269)cCt>cTt	p.P423L	ABCA12_uc002vev.3_Missense_Mutation_p.P105L|ABCA12_uc010zjn.2_5'UTR	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 12 (ABCA12), transcript variant 1, mRNA.	423					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity	p.P423T(1)		NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TAGGACTTCAGGAACTGGAGG	0.299000														51			25		0	0	0.00127121	0	0
TNFSF14	8740	broad.mit.edu	37	19	6667151	6667151	+	Nonsense_Mutation	SNP	C	A	A	rs143854617	byFrequency	TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:6667151C>A	uc002mfk.2	-	3	653	c.271G>T	c.(271-273)Gag>Tag	p.E91*	TNFSF14_uc002mfj.2_Nonsense_Mutation_p.E55*	NM_003807	NP_003798	O43557	TNF14_HUMAN	Homo sapiens tumor necrosis factor (ligand) superfamily, member 14 (TNFSF14), transcript variant 1, mRNA.	91					T cell homeostasis|T cell proliferation|cellular response to mechanical stimulus|immune response|induction of apoptosis|release of cytoplasmic sequestered NF-kappaB	cytoplasm|extracellular space|integral to membrane|plasma membrane	caspase inhibitor activity|cytokine activity|tumor necrosis factor receptor binding	p.E91*(2)		breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18						GGGTTGACCTCGTGAGACCTT	0.587000														48			11		5.50884e-06	1.72907e-05	0.00136819	1	0
C6orf118	168090	broad.mit.edu	37	6	165711528	165711528	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:165711528G>A	uc003qum.4	-	4	1035	c.999C>T	c.(997-999)ctC>ctT	p.L333L	C6orf118_uc011egi.1_Non-coding_Transcript	NM_144980	NP_659417	Q5T5N4	CF118_HUMAN	Homo sapiens chromosome 6 open reading frame 118 (C6orf118), mRNA.	333										breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		CTTCCCTGGCGAGATCCATGT	0.562000														45			20		0	0	0.00121646	0	0
SPOCK3	50859	broad.mit.edu	37	4	167675876	167675876	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr4:167675876G>A	uc011cjq.1	-	6	807	c.750C>T	c.(748-750)ttC>ttT	p.F250F	SPOCK3_uc021xuf.1_Silent_p.F241F|SPOCK3_uc011cjr.1_Silent_p.F121F|SPOCK3_uc003iri.1_Silent_p.F241F|SPOCK3_uc011cjs.1_Silent_p.F190F|SPOCK3_uc003irj.1_Silent_p.F238F|SPOCK3_uc011cjt.1_Silent_p.F149F|SPOCK3_uc011cjp.2_Silent_p.F198F|SPOCK3_uc011cju.1_Silent_p.F145F|SPOCK3_uc011cjv.1_Silent_p.F143F|SPOCK3_uc003irk.4_Silent_p.F238F	NM_001204353	NP_001191282	Q9BQ16	TICN3_HUMAN	Homo sapiens sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3 (SPOCK3), transcript variant 4, mRNA.	241					signal transduction	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase inhibitor activity	p.S249T(1)		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)		TGCTGGTATCGAATCCTAAAG	0.383000														44			16		0	0	0.000958276	0	0
SPINK9	643394	broad.mit.edu	37	5	147716009	147716009	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:147716009A>G	uc003lpe.1	+	1	135	c.80A>G	c.(79-81)aAa>aGa	p.K27R	AK054753_uc003lpb.1_Intron	NM_001040433	NP_001035523	Q5DT21	ISK9_HUMAN	Homo sapiens serine peptidase inhibitor, Kazal type 9 (SPINK9), mRNA.	27	Kazal-like.			K -> Q (in Ref. 1; AA sequence).		extracellular region	protein binding|serine-type endopeptidase inhibitor activity			ovary(1)|urinary_tract(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAACAGACGAAACAGATGGTC	0.299000														88			34		0	0	0.00128727	0	0
CSMD2	114784	broad.mit.edu	37	1	34498195	34498195	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:34498195C>T	uc001bxm.1	-	3	694	c.517_splice	c.e3+1	p.V173_splice	CSMD2_uc001bxn.1_Splice_Site_p.V133_splice	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	133	Sushi 1.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				AGGCACTTACCTTCATAGGTG	0.562000														5			8		0	0	0.000673444	0	0
CNTN1	1272	broad.mit.edu	37	12	41323782	41323782	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:41323782C>T	uc001rmm.1	+	6	794	c.681C>T	c.(679-681)atC>atT	p.I227I	CNTN1_uc009zjy.2_Silent_p.I227I|CNTN1_uc001rmn.1_Silent_p.I216I|CNTN1_uc001rmo.3_Silent_p.I227I	NM_001843	NP_001834	Q12860	CNTN1_HUMAN	Homo sapiens contactin 1 (CNTN1), transcript variant 1, mRNA.	227					Notch signaling pathway|axon guidance|cell adhesion	anchored to membrane|membrane fraction|plasma membrane		p.I227I(2)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				GCAAATTCATCCCACTCATTC	0.363000														97			48		0	0	0.00361006	0	0
COL11A2	1302	broad.mit.edu	37	6	33154564	33154564	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:33154564C>T	uc003ocx.1	-	4	866	c.638G>A	c.(637-639)gGg>gAg	p.G213E	COL11A2_uc003ocy.1_Missense_Mutation_p.G213E|COL11A2_uc003ocz.1_Missense_Mutation_p.G213E|COL11A2_uc003oda.3_Missense_Mutation_p.G213E	NM_080680	NP_542411	P13942	COBA2_HUMAN	Homo sapiens collagen, type XI, alpha 2 (COL11A2), transcript variant 1, mRNA.	213	TSP N-terminal.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						TGCCTGGACCCCTGGGACAAT	0.562000														130			35		0	0	0.00222228	0	0
OMA1	115209	broad.mit.edu	37	1	59002379	59002379	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:59002379T>A	uc001cyy.3	-	2	623	c.535A>T	c.(535-537)Aac>Tac	p.N179Y	DAB1_uc001cyt.1_Intron|OMA1_uc001cyx.1_Missense_Mutation_p.N179Y|OMA1_uc009vzz.3_Missense_Mutation_p.N179Y	NM_145243	NP_660286	Q96E52	OMA1_HUMAN	Homo sapiens OMA1 zinc metallopeptidase homolog (S. cerevisiae) (OMA1), mRNA.	179					proteolysis	integral to membrane|mitochondrial membrane	metal ion binding|metalloendopeptidase activity			NS(1)|breast(1)|large_intestine(6)|liver(2)|lung(6)|prostate(1)|skin(1)	18	all_cancers(7;6.54e-05)					TCCTTCTTGTTAGGAGGAAGT	0.348000														105			30		0	0	0.00375469	0	0
GRK1	6011	broad.mit.edu	37	13	114322064	114322064	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr13:114322064C>T	uc010tkf.2	+	0	468	c.363C>T	c.(361-363)ctC>ctT	p.L121L		NM_002929	NP_002920	Q15835	RK_HUMAN	Homo sapiens G protein-coupled receptor kinase 1 (GRK1), mRNA.	121	N-terminal.|RGS.				regulation of G-protein coupled receptor protein signaling pathway|rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway	membrane	ATP binding|G-protein coupled receptor kinase activity|rhodopsin kinase activity|signal transducer activity			ovary(2)	2	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.00696)|all_epithelial(44;0.00347)|all_lung(25;0.0221)|Breast(118;0.0411)|Lung NSC(25;0.0839)	all cancers(43;0.234)			AGGCCAAACTCTTCTGCAGCT	0.602000														21			11		0	0	0.000673444	0	0
CASR	846	broad.mit.edu	37	3	122003081	122003081	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:122003081C>T	uc003eew.4	+	6	2748	c.2310C>T	c.(2308-2310)atC>atT	p.I770I	CASR_uc003eev.4_Silent_p.I760I	NM_001178065	NP_001171536	P41180	CASR_HUMAN	Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA.	760					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity	p.L770I(2)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	AGGATGAGATCATCTTCATCA	0.567000														31			11		0	0	0.000673444	0	0
LPIN2	9663	broad.mit.edu	37	18	2951204	2951204	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr18:2951204A>G	uc002klo.3	-	3	678	c.439T>C	c.(439-441)Ttt>Ctt	p.F147L		NM_014646	NP_055461	Q92539	LPIN2_HUMAN	Homo sapiens lipin 2 (LPIN2), mRNA.	147					fatty acid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|triglyceride biosynthetic process	cytosol|endoplasmic reticulum membrane|nucleus	phosphatidate phosphatase activity|transcription coactivator activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	29				READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156)		CTTGGAGTAAAAATTGTCTCT	0.423000														59			18		0	0	0.00229938	0	0
ETS2	2114	broad.mit.edu	37	21	40191503	40191503	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr21:40191503G>A	uc002yxf.3	+	8	1348	c.1308G>A	c.(1306-1308)tgG>tgA	p.W436*	ETS2_uc002yxg.3_Nonsense_Mutation_p.W296*	NM_005239	NP_005230	P15036	ETS2_HUMAN	Homo sapiens v-ets erythroblastosis virus E26 oncogene homolog 2 (avian) (ETS2), transcript variant 1, mRNA.	296					positive regulation of transcription, DNA-dependent|skeletal system development	nucleus	protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18		Prostate(19;6.33e-08)|all_epithelial(19;0.123)				TCCAGTCCTGGAACAGCCAGT	0.552000														16			10		0	0	0.000442599	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37430983	37430983	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr10:37430983G>A	uc021ppc.1	+	6	1089	c.990G>A	c.(988-990)gaG>gaA	p.E330E	ANKRD30A_uc001iza.1_Silent_p.E330E	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	386						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						TCGCATGGGAGAAAAAAGAAG	0.443000														81			34		0	0	0.00111076	0	0
NUAK2	81788	broad.mit.edu	37	1	205273169	205273169	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:205273169G>A	uc001hce.3	-	6	1423	c.1296C>T	c.(1294-1296)atC>atT	p.I432I		NM_030952	NP_112214	Q9H093	NUAK2_HUMAN	Homo sapiens NUAK family, SNF1-like kinase, 2 (NUAK2), mRNA.	432					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)			GGCTCGCAGGGATTGGGCTGA	0.622000														23			14		0	0	0.00316338	0	0
NEIL2	252969	broad.mit.edu	37	8	11637289	11637289	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr8:11637289C>T	uc003wug.2	+	2	996	c.321C>T	c.(319-321)ctC>ctT	p.L107L	NEIL2_uc003wue.2_Silent_p.L107L|NEIL2_uc003wuf.2_Silent_p.L46L|NEIL2_uc011kxd.1_Intron	NM_145043	NP_001129219	Q969S2	NEIL2_HUMAN	Homo sapiens nei endonuclease VIII-like 2 (E. coli) (NEIL2), transcript variant 1, mRNA.	107					base-excision repair|nucleotide-excision repair	nucleus	DNA-(apurinic or apyrimidinic site) lyase activity|damaged DNA binding|hydrolase activity, hydrolyzing N-glycosyl compounds|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10	all_epithelial(15;0.103)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.166)		CTGCAGAGCTCGTCCCCCAGG	0.597000								Base excision repair (BER), DNA glycosylases						50			17		0	0	0.00121646	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43945674	43945674	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:43945674G>A	uc010skx.2	-	0	51	c.51C>T	c.(49-51)ttC>ttT	p.F17F		NM_025003	NP_079279	P59510	ATS20_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 20 (ADAMTS20), mRNA.	17						proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		ACCTGGTGATGAAGAGCGAGA	0.652000														40			16		0	0	0.00074312	0	0
APOL4	80832	broad.mit.edu	37	22	36587695	36587695	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr22:36587695G>A	uc003aox.3	-	5	706	c.481C>T	c.(481-483)Cca>Tca	p.P161S	APOL4_uc003aow.3_Missense_Mutation_p.P158S|APOL4_uc010gww.3_Missense_Mutation_p.P4S	NM_145660	NP_663693	Q9BPW4	APOL4_HUMAN	Homo sapiens apolipoprotein L, 4 (APOL4), transcript variant b, mRNA.	162					lipid metabolic process|lipid transport|lipoprotein metabolic process	extracellular region	lipid binding			lung(1)	1						GCTGTAAATGGTGCCAACATA	0.552000														13			8		0	0	0.000274275	0	0
DNAH5	1767	broad.mit.edu	37	5	13769624	13769624	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:13769624C>T	uc003jfd.2	-	56	9748	c.9706G>A	c.(9706-9708)Gat>Aat	p.D3236N	DNAH5_uc003jfc.2_5'Flank	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3236	Stalk (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TCGGCTTTATCGTTGGCCACT	0.418000									Kartagener syndrome					99			50		0	0	0.00361006	0	0
ORC1	4998	broad.mit.edu	37	1	52850381	52850381	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:52850381G>A	uc001ctt.3	-	10	1827	c.1596C>T	c.(1594-1596)atC>atT	p.I532I	ORC1_uc010oni.2_Silent_p.I527I|ORC1_uc001ctu.3_Silent_p.I532I	NM_004153	NP_004144	Q13415	ORC1_HUMAN	Homo sapiens origin recognition complex, subunit 1 (ORC1), transcript variant 1, mRNA.	532	Necessary and sufficient for ORC complex assembly.				DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint|regulation of transcription involved in G1/S phase of mitotic cell cycle	cytosol|nuclear origin of replication recognition complex|nucleolus|nucleoplasm|plasma membrane	ATP binding|DNA binding|nucleoside-triphosphatase activity|protein binding			breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						GGACACCGGAGATGTACATGC	0.517000														21			9		0	0	0.000442599	0	0
CNDP1	84735	broad.mit.edu	37	18	72238423	72238423	+	Silent	SNP	G	C	C			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr18:72238423G>C	uc002llq.3	+	6	970	c.759G>C	c.(757-759)gtG>gtC	p.V253V	CNDP1_uc002lls.3_Silent_p.V56V	NM_032649	NP_116038	Q96KN2	CNDP1_HUMAN	Homo sapiens carnosine dipeptidase 1 (metallopeptidase M20 family) (CNDP1), mRNA.	253					proteolysis	extracellular region	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity|tripeptidase activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27		Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211)		BRCA - Breast invasive adenocarcinoma(31;0.109)		CTCTGCAGGTGAAATGCAGAG	0.428000														62			22		0	0	0.00332997	0	0
TMCO4	255104	broad.mit.edu	37	1	20021023	20021023	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:20021023G>A	uc001bcn.3	-	14	1646	c.1404C>T	c.(1402-1404)ttC>ttT	p.F468F	TMCO4_uc001bco.1_Silent_p.F468F|TMCO4_uc001bcp.1_Silent_p.F428F	NM_181719	NP_859070	Q5TGY1	TMCO4_HUMAN	Homo sapiens transmembrane and coiled-coil domains 4 (TMCO4), mRNA.	468						integral to membrane				biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)		TGCGGTACACGAAACTCAGCA	0.632000														32			16		0	0	0.00121646	0	0
WDR52	55779	broad.mit.edu	37	3	113120439	113120439	+	Silent	SNP	A	G	G			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:113120439A>G	uc003ead.2	-	9	1385	c.1318T>C	c.(1318-1320)Ttg>Ctg	p.L440L	WDR52_uc003eae.2_Silent_p.L440L	NM_001164496	NP_001157968	Q96MT7	WDR52_HUMAN	Homo sapiens WD repeat domain 52 (WDR52), transcript variant 1, mRNA.	440										breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						ACCTGAGCCAACCAAAAGTTA	0.343000														34			17		0	0	0.00074312	0	0
SI	6476	broad.mit.edu	37	3	164777015	164777015	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:164777015C>T	uc003fei.3	-	10	1282	c.1219G>A	c.(1219-1221)Gga>Aga	p.G407R		NM_001041	NP_001032	P14410	SUIS_HUMAN	Homo sapiens sucrase-isomaltase (alpha-glucosidase) (SI), mRNA.	407	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	Golgi apparatus|apical plasma membrane|brush border|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TGAGGGAGTCCGTTAAACGCA	0.328000										HNSCC(35;0.089)				36			19		0	0	0.00074312	0	0
C12orf63	374467	broad.mit.edu	37	12	97102521	97102521	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:97102521G>A	uc021rcc.1	+	14	2017	c.1939G>A	c.(1939-1941)Gaa>Aaa	p.E647K				Q6ZTY8	CL063_HUMAN	RecName: Full=Putative uncharacterized protein C12orf63;	647										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						TTGTGTCCCAGAAAATAAATT	0.333000														66			23		0	0	0.00395357	0	0
CYP11B2	1585	broad.mit.edu	37	8	143999038	143999038	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr8:143999038C>T	uc003yxk.1	-	0	222	c.219G>A	c.(217-219)caG>caA	p.Q73Q		NM_000498	NP_000489	P19099	C11B2_HUMAN	Homo sapiens cytochrome P450, family 11, subfamily B, polypeptide 2 (CYP11B2), nuclear gene encoding mitochondrial protein, mRNA.	73					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process		corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity			cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Candesartan(DB00796)|Metyrapone(DB01011)	GCCCCAGCTCCTGGAAGGTCT	0.637000									Familial Hyperaldosteronism type I					37			12		0	0	0.00136819	0	0
C21orf59	56683	broad.mit.edu	37	21	33954638	33954638	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr21:33954638G>A	uc002ypy.2	-	6	1215	c.850C>T	c.(850-852)Cat>Tat	p.H284Y	C21orf59_uc002ypw.4_Missense_Mutation_p.H78Y|C21orf59_uc002ypx.1_Missense_Mutation_p.H101Y|C21orf59_uc002ypz.2_Missense_Mutation_p.H252Y	NM_021254	NP_067077	P57076	CU059_HUMAN	Homo sapiens chromosome 21 open reading frame 59 (C21orf59), transcript variant 1, mRNA.	278						cytosol|nucleus				endometrium(2)|large_intestine(1)|prostate(1)|skin(1)	5						GCATCTATATGACTCCGGAGT	0.517000														69			23		0	0	0.00395357	0	0
OR2J2	26707	broad.mit.edu	37	6	29142018	29142018	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:29142018C>T	uc011dlm.2	+	0	708	c.606C>T	c.(604-606)gtC>gtT	p.V202V		NM_030905	NP_112167	O76002	OR2J2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily J, member 2 (OR2J2), mRNA.	202					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1)	25						CCCTCATGGTCATGAGCTCCA	0.478000														117			28		0	0	0.000878237	0	0
IVL	3713	broad.mit.edu	37	1	152882513	152882513	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:152882513G>A	uc021ozl.1	+	0	240	c.240G>A	c.(238-240)aaG>aaA	p.K80K	IVL_uc001fau.3_Silent_p.K80K	NM_005547	NP_005538	P07476	INVO_HUMAN	Homo sapiens involucrin (IVL), mRNA.	80					isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine|keratinization|response to UV-B	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity			breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			aacagcagaaggagccacagg	0.522000														34			11		0	0	0.000673444	0	0
PSG3	5671	broad.mit.edu	37	19	43233405	43233405	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:43233405C>T	uc002oue.3	-	4	1245	c.1113G>A	c.(1111-1113)aaG>aaA	p.K371K	PSG3_uc002ouf.3_Intron|PSG3_uc002oug.1_Silent_p.K371K	NM_021016	NP_066296	Q16557	PSG3_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 3 (PSG3), mRNA.	371	Ig-like C2-type 3.			Missing (in Ref. 9).	defense response|female pregnancy	extracellular region		p.G370R(1)		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)				ATAGCTGAAACTTCCCATTAA	0.453000														163			53		0	0	0.00361006	0	0
OR5D14	219436	broad.mit.edu	37	11	55563901	55563901	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:55563901G>A	uc010rim.2	+	0	870	c.870G>A	c.(868-870)ctG>ctA	p.L290L		NM_001004735	NP_001004735	Q8NGL3	OR5DE_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 14 (OR5D14), mRNA.	290			L -> P (in dbSNP:rs297055).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L290L(4)|p.L290M(1)|p.L290P(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				TGAACCCTCTGATCTACAGCC	0.408000														16			24		0	0	0.00127121	0	0
CHRM4	1132	broad.mit.edu	37	11	46407940	46407940	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:46407940G>A	uc001nct.1	-	0	168	c.168C>T	c.(166-168)tcC>tcT	p.S56S		NM_000741	NP_000732	P08173	ACM4_HUMAN	Homo sapiens cholinergic receptor, muscarinic 4 (CHRM4), mRNA.	56					cell proliferation	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity			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)	TGACCTTGATGGACAGCATCA	0.537000														15			14		0	0	0.00185496	0	0
USHBP1	83878	broad.mit.edu	37	19	17370418	17370418	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:17370418C>T	uc002nfs.1	-	5	1005	c.892G>A	c.(892-894)Gag>Aag	p.E298K	USHBP1_uc002nfr.1_5'Flank|USHBP1_uc002nft.1_Non-coding_Transcript|USHBP1_uc010xpk.1_Missense_Mutation_p.E234K|USHBP1_uc010eam.1_Missense_Mutation_p.E226K	NM_031941	NP_114147	Q8N6Y0	USBP1_HUMAN	Homo sapiens Usher syndrome 1C binding protein 1 (USHBP1), mRNA.	298							PDZ domain binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						CGGAGTTGCTCCATCTGGGCT	0.567000														149			68		0	0	0.00361006	0	0
OR2A25	392138	broad.mit.edu	37	7	143771684	143771684	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:143771684C>T	uc011ktx.2	+	0	372	c.372C>T	c.(370-372)gcC>gcT	p.A124A		NM_001004488	NP_001004488	A4D2G3	O2A25_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 25 (OR2A25), mRNA.	124					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24	Melanoma(164;0.0783)					GGTACGTGGCCATCTGCCACC	0.478000														76			25		0	0	0.000720815	0	0
KRT40	125115	broad.mit.edu	37	17	39138607	39138607	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr17:39138607C>T	uc010cxh.1	-	4	800	c.639G>A	c.(637-639)gtG>gtA	p.V213V	KRT40_uc002hvq.1_Non-coding_Transcript	NM_182497	NP_872303	Q6A162	K1C40_HUMAN	Homo sapiens keratin 40 (KRT40), mRNA.	213	Coil 1B.|Rod.					intermediate filament	structural molecule activity			endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9		Breast(137;0.00043)				TCAGAGACTCCACATGGGCCT	0.507000														66			19		0	0	0.00074312	0	0
TFPI	7035	broad.mit.edu	37	2	188361745	188361745	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:188361745C>T	uc002upy.3	-	2	477	c.182G>A	c.(181-183)gGc>gAc	p.G61D	TFPI_uc002uqa.2_Missense_Mutation_p.G61D|TFPI_uc002uqb.2_Missense_Mutation_p.G61D	NM_006287	NP_006278	P10646	TFPI1_HUMAN	Homo sapiens tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor) (TFPI), transcript variant 1, mRNA.	61	BPTI/Kunitz inhibitor 1.				blood coagulation, extrinsic pathway	extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.0554)		Coagulation factor VIIa(DB00036)	TTTACATGGGCCATCATCCGC	0.343000														41			14		0	0	0.00185496	0	0
PLAA	9373	broad.mit.edu	37	9	26913921	26913921	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr9:26913921G>A	uc003zqd.3	-	10	1936	c.1511C>T	c.(1510-1512)tCt>tTt	p.S504F	PLAA_uc003zqe.2_Missense_Mutation_p.S504F	NM_001031689	NP_001026859	Q9Y263	PLAP_HUMAN	Homo sapiens phospholipase A2-activating protein (PLAA), mRNA.	504					phospholipid metabolic process|signal transduction		phospholipase A2 activator activity			breast(1)|endometrium(7)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	17		all_neural(3;3.53e-10)|Glioma(3;2.71e-09)		Lung(218;1.32e-05)|LUSC - Lung squamous cell carcinoma(38;0.00011)		CATACTTGCAGAACCTGGTAC	0.348000														30			18		0	0	0.00278032	0	0
OTOA	146183	broad.mit.edu	37	16	21698771	21698771	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr16:21698771G>A	uc002djh.3	+	6	438	c.437G>A	c.(436-438)cGa>cAa	p.R146Q	LOC23117_uc021tel.1_Intron|OTOA_uc010vbj.2_Missense_Mutation_p.R67Q	NM_144672	NP_653273	Q7RTW8	OTOAN_HUMAN	Homo sapiens otoancorin (OTOA), transcript variant 1, mRNA.	146					sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		GGAGAGATTCGAGAACGAGCC	0.522000														67			31		0	0	0.00170553	0	0
UNC13C	440279	broad.mit.edu	37	15	54914563	54914563	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr15:54914563C>T	uc021smr.1	+	28	6139	c.6139C>T	c.(6139-6141)Cat>Tat	p.H2047Y	UNC13C_uc021sms.1_Missense_Mutation_p.H2049Y|UNC13C_uc002acm.3_5'UTR	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	2049					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)		GATATCTGTTCATGTGGACAT	0.428000														41			29		0	0	0.00428921	0	0
TPO	7173	broad.mit.edu	37	2	1480954	1480954	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:1480954G>A	uc002qwr.3	+	7	1002	c.916G>A	c.(916-918)Ggg>Agg	p.G306R	TPO_uc010ewj.3_Intron|TPO_uc002qww.3_Missense_Mutation_p.G306R|TPO_uc002qwx.3_Missense_Mutation_p.G306R|TPO_uc002qwu.3_Missense_Mutation_p.G306R|TPO_uc010yio.2_Intron|TPO_uc010yip.2_Missense_Mutation_p.G306R	NM_001206744	NP_001193673	P07202	PERT_HUMAN	Homo sapiens thyroid peroxidase (TPO), transcript variant 6, mRNA.	306					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	CGCGCTCTTTGGGAACCTGTC	0.711000														15			7		0	0	0.00198382	0	0
BCL9	607	broad.mit.edu	37	1	147094133	147094133	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:147094133C>T	uc001epq.3	+	8	3704	c.2964C>T	c.(2962-2964)ccC>ccT	p.P988P	BCL9_uc010ozr.1_Silent_p.P914P	NM_004326	NP_004317	O00512	BCL9_HUMAN	Homo sapiens B-cell CLL/lymphoma 9 (BCL9), mRNA.	988	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding			breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					GAAGTCTTCCCTCTAGTACAC	0.498000			T	"""IGH@, IGL@"""	B-ALL									112			57		0	0	0.00361006	0	0
INO80	54617	broad.mit.edu	37	15	41276081	41276081	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr15:41276081G>A	uc001zni.3	-	33	4329	c.4116C>T	c.(4114-4116)ccC>ccT	p.P1372P	INO80_uc010ucu.2_Non-coding_Transcript|INO80_uc021sjj.1_Silent_p.P166P	NM_017553	NP_060023	Q9ULG1	INO80_HUMAN	Homo sapiens INO80 homolog (S. cerevisiae) (INO80), mRNA.	1372	Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.				UV-damage excision repair|cell division|cellular response to UV|cellular response to ionizing radiation|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of DNA replication involved in S phase|positive regulation of cell growth|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly	Ino80 complex|microtubule	ATP binding|ATPase activity|DNA binding|DNA helicase activity|actin binding|alpha-tubulin binding			NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						TCTCGTCCAGGGGAATGGAGC	0.572000														20			17		0	0	0.00152264	0	0
EPHA7	2045	broad.mit.edu	37	6	93967213	93967213	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:93967213G>A	uc003poe.3	-	11	2380	c.2139C>T	c.(2137-2139)ttC>ttT	p.F713F	EPHA7_uc003pof.3_Silent_p.F708F|EPHA7_uc011eac.2_Silent_p.F709F	NM_004440	NP_004431	Q15375	EPHA7_HUMAN	Homo sapiens EPH receptor A7 (EPHA7), mRNA.	713	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		CATTTTCCATGAACTCTATTA	0.363000														45			20		0	0	0.00229938	0	0
OR2A25	392138	broad.mit.edu	37	7	143771348	143771348	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:143771348C>T	uc011ktx.2	+	0	36	c.36C>T	c.(34-36)ctC>ctT	p.L12L		NM_001004488	NP_001004488	A4D2G3	O2A25_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 25 (OR2A25), mRNA.	12					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L12I(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24	Melanoma(164;0.0783)					CAGAGTTCCTCCTACTGGGAT	0.478000														52			35		0	0	0.00428921	0	0
TET3	200424	broad.mit.edu	37	2	74273784	74273784	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:74273784C>T	uc002skb.4	+	0	335	c.335C>T	c.(334-336)tCt>tTt	p.S112F	TET3_uc010fez.2_Missense_Mutation_p.S112F	NM_144993	NP_659430	O43151	TET3_HUMAN	Homo sapiens tet methylcytosine dioxygenase 3 (TET3), mRNA.	112							metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GAGGGCTGCTCTGCTGGCAGC	0.632000														34			18		0	0	0.000958276	0	0
ACTN2	88	broad.mit.edu	37	1	236912487	236912487	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:236912487C>T	uc001hyf.2	+	13	1783	c.1579C>T	c.(1579-1581)Cct>Tct	p.P527S	ACTN2_uc001hyg.2_Missense_Mutation_p.P319S|ACTN2_uc009xgi.1_Missense_Mutation_p.P527S|ACTN2_uc010pxu.1_Missense_Mutation_p.P216S	NM_001103	NP_001094	P35609	ACTN2_HUMAN	Homo sapiens actinin, alpha 2 (ACTN2), mRNA.	527					focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	Z disc|actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium	FATZ 1 binding|ZASP binding|actin binding|calcium ion binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin Z domain binding|titin binding			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			GAGGGCTGCTCCTTTCAACAA	0.433000														61			23		0	0	0.00278032	0	0
NUP62	23636	broad.mit.edu	37	19	50411634	50411634	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:50411634G>A	uc002prb.3	-	1	1675	c.1431C>T	c.(1429-1431)atC>atT	p.I477I	IL4I1_uc021uxy.1_Intron|IL4I1_uc002pqu.2_Intron|IL4I1_uc010eno.2_Intron|IL4I1_uc002pqv.2_Intron|NUP62_uc002pqx.3_Silent_p.I477I|NUP62_uc002pqy.3_Silent_p.I477I|NUP62_uc002pra.3_Silent_p.I477I|NUP62_uc002pqz.3_Silent_p.I477I|NUP62_uc002prc.3_Silent_p.I401I|NUP62_uc021uya.1_Silent_p.I477I	NM_012346	NP_714941	P37198	NUP62_HUMAN	Homo sapiens nucleoporin 62kDa (NUP62), transcript variant 4, mRNA.	477					carbohydrate metabolic process|cell death|cell surface receptor linked signaling pathway|glucose transport|hormone-mediated signaling pathway|mRNA transport|negative regulation of apoptosis|negative regulation of cell proliferation|nucleocytoplasmic transport|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|protein transport|regulation of glucose transport|transcription, DNA-dependent|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleocytoplasmic shuttling complex|ribonucleoprotein complex|spindle pole	SH2 domain binding|chromatin binding|protein serine/threonine kinase activity|receptor signaling complex scaffold activity|structural constituent of nuclear pore|thyroid hormone receptor binding|ubiquitin binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|stomach(1)|urinary_tract(2)	19		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00242)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		GCGCATTGAGGATCTTGCAGA	0.622000														73			34		0	0	0.00327116	0	0
ZNF169	169841	broad.mit.edu	37	9	97062705	97062706	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr9:97062705_97062706CC>TT	uc022bki.1	+	3	923_924	c.868_869CC>TT	c.(868-870)ccg>TTg	p.P290L	ZNF169_uc004aum.1_Missense_Mutation_p.P289L	NM_194320	NP_919301	Q14929	ZN169_HUMAN	Homo sapiens zinc finger protein 169 (ZNF169), mRNA.	289						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	24		Acute lymphoblastic leukemia(62;0.136)				GGGGGAGAAGCCGTATGTGTGC	0.559000														50			28		0	0	6.4e-05	0	0
LIMS2	55679	broad.mit.edu	37	2	128412413	128412413	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:128412413C>T	uc002tpa.3	-	2	395	c.229G>A	c.(229-231)Gga>Aga	p.G77R	LIMS2_uc002tox.3_Missense_Mutation_p.G101R|LIMS2_uc010fmb.3_5'UTR|LIMS2_uc002toy.3_Missense_Mutation_p.G72R|LIMS2_uc002toz.3_Missense_Mutation_p.G72R|LIMS2_uc010yzm.2_Missense_Mutation_p.G99R|LIMS2_uc002tpb.3_Missense_Mutation_p.G72R	NM_001161403	NP_001154876	Q7Z4I7	LIMS2_HUMAN	Homo sapiens LIM and senescent cell antigen-like domains 2 (LIMS2), transcript variant 3, mRNA.	77	LIM zinc-binding 2.				cell junction assembly	cytosol|focal adhesion|nucleus	zinc ion binding	p.G77A(1)		endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0681)		CCGCAGGATCCACAGCACGGA	0.602000														15			8		0	0	0.000274275	0	0
SIM1	6492	broad.mit.edu	37	6	100841753	100841753	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:100841753G>A	uc003pqj.4	-	9	1647	c.1180C>T	c.(1180-1182)Cac>Tac	p.H394Y	SIM1_uc021zdg.1_Missense_Mutation_p.H394Y|SIM1_uc010kcu.3_Missense_Mutation_p.H394Y	NM_005068	NP_005059	P81133	SIM1_HUMAN	Homo sapiens single-minded homolog 1 (Drosophila) (SIM1), mRNA.	394	Single-minded C-terminal.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		CTTTCTGTGTGAAATCCCGAA	0.478000														37			8		0	0	0.000274275	0	0
ADAM8	101	broad.mit.edu	37	10	135085413	135085413	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr10:135085413C>T	uc021qbe.1	-	10	1089	c.1003G>A	c.(1003-1005)Gag>Aag	p.E335K	ADAM8_uc009ybi.3_Missense_Mutation_p.E335K|ADAM8_uc010qva.2_Missense_Mutation_p.E296K|ADAM8_uc010qvb.1_3'UTR	NM_001109	NP_001100	B4DVM6	B4DVM6_HUMAN	Homo sapiens ADAM metallopeptidase domain 8 (ADAM8), transcript variant 1, mRNA.	296					integrin-mediated signaling pathway|proteolysis		metalloendopeptidase activity			central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)	17		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)		all cancers(32;7.72e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.23e-06)|Epithelial(32;1.02e-05)		TGGCCCATCTCATGGGCCATG	0.647000														23			21		0	0	0.00229938	0	0
NPR1	4881	broad.mit.edu	37	1	153655028	153655028	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:153655028C>T	uc001fcs.4	+	4	1647	c.1226C>T	c.(1225-1227)tCc>tTc	p.S409F	NPR1_uc010pdz.2_Missense_Mutation_p.S155F|NPR1_uc010pea.2_5'Flank	NM_000906	NP_000897	P16066	ANPRA_HUMAN	Homo sapiens natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A) (NPR1), mRNA.	409					body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation		ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	ACAGACTTCTCCCTCTGGGAT	0.488000														17			8		0	0	0.000442599	0	0
CYP4A22	284541	broad.mit.edu	37	1	47610323	47610323	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:47610323C>T	uc001cqv.1	+	7	1050	c.999C>T	c.(997-999)atC>atT	p.I333I	CYP4A22_uc009vyo.3_Silent_p.I333I|CYP4A22_uc009vyp.3_Intron	NM_001010969	NP_001010969	Q5TCH4	CP4AM_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily A, polypeptide 22 (CYP4A22), mRNA.	333						endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TCTCCTGGATCCTCTATGCTC	0.592000														69			6		0	0	0.00400662	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110509276	110509276	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr8:110509276G>A	uc003yne.3	+	63	10560	c.10456G>A	c.(10456-10458)Gat>Aat	p.D3486N		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	3486					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)			GACATGCTGGGATTATGGAAT	0.338000										HNSCC(38;0.096)				83			26		0	0	0.000878237	0	0
ARMC8	25852	broad.mit.edu	37	3	137956154	137956154	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:137956154C>T	uc003esa.1	+	8	938	c.571C>T	c.(571-573)Cga>Tga	p.R191*	ARMC8_uc003erw.3_Nonsense_Mutation_p.R191*|ARMC8_uc003erx.3_Nonsense_Mutation_p.R191*|ARMC8_uc003ery.3_Nonsense_Mutation_p.R163*|ARMC8_uc011bmf.1_Nonsense_Mutation_p.R174*|ARMC8_uc011bmg.1_Nonsense_Mutation_p.R205*|ARMC8_uc011bmh.1_Nonsense_Mutation_p.R132*|ARMC8_uc003esb.1_Nonsense_Mutation_p.R163*|ARMC8_uc003esc.1_5'UTR	NM_015396	NP_056211	Q8IUR7	ARMC8_HUMAN	Homo sapiens armadillo repeat containing 8 (ARMC8), transcript variant 2, mRNA.	205							binding			endometrium(2)|kidney(1)|large_intestine(7)|lung(5)|upper_aerodigestive_tract(1)	16						TTTACAGGTTCGAATGCAAGC	0.343000														292			111		0	0	0.00361006	0	0
NAB1	4664	broad.mit.edu	37	2	191550256	191550256	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:191550256T>C	uc002usb.3	+	7	1722	c.1150T>C	c.(1150-1152)Tat>Cat	p.Y384H	NAB1_uc010fsc.3_Missense_Mutation_p.Y384H|NAB1_uc010fsd.3_Missense_Mutation_p.Y383H|NAB1_uc002usc.3_Missense_Mutation_p.Y383H|NAB1_uc010zgh.2_Missense_Mutation_p.Y354H	NM_005966	NP_005957	Q13506	NAB1_HUMAN	Homo sapiens NGFI-A binding protein 1 (EGR1 binding protein 1) (NAB1), mRNA.	384					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(1)	7			OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0405)|all cancers(119;0.109)			CCAAGCTGGCTATGAGAGACT	0.468000														17			12		0	0	0.00400662	0	0
TEX26	122046	broad.mit.edu	37	13	31513914	31513914	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr13:31513914C>T	uc001uti.3	+	2	165	c.146_splice	c.e2+1	p.R49_splice		NM_152325	NP_689538	Q8N6G2	CM026_HUMAN	Homo sapiens chromosome 13 open reading frame 26 (C13orf26), mRNA.	49																	TGCCTTAATTCGGTAGATCAT	0.383000														41			14		0	0	0.00400662	0	0
RYR1	6261	broad.mit.edu	37	19	38979928	38979928	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:38979928G>A	uc002oit.3	+	34	5789	c.5659G>A	c.(5659-5661)Gaa>Aaa	p.E1887K	RYR1_uc002oiu.3_Missense_Mutation_p.E1887K	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	1887	6 X approximate repeats.|Glu-rich (acidic).				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	gggtgaagaggaagatgagga	0.498000														11			10		0	0	0.000442599	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140257013	140257013	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:140257013G>A	uc003lic.2	+	0	2083	c.1956G>A	c.(1954-1956)aaG>aaA	p.K652K	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc011daf.2_Silent_p.K652K	NM_018903	NP_061726	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 12 (PCDHA12), transcript variant 1, mRNA.	663	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCTGGTGAAGGACCACGGTG	0.687000														34			9		0	0	0.000442599	0	0
PAPPA	5069	broad.mit.edu	37	9	118974097	118974097	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr9:118974097G>A	uc004bjn.3	+	3	2185	c.1804G>A	c.(1804-1806)Gat>Aat	p.D602N	PAPPA_uc011lxp.1_Intron|PAPPA_uc011lxq.2_Intron	NM_002581	NP_002572	Q13219	PAPP1_HUMAN	Homo sapiens pregnancy-associated plasma protein A, pappalysin 1 (PAPPA), mRNA.	602					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						CCTCTGCAATGATACCAACCC	0.532000														214			64		0	0	0.00361006	0	0
EMR1	2015	broad.mit.edu	37	19	6904109	6904109	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:6904109C>T	uc002mfw.3	+	7	903	c.865C>T	c.(865-867)Ctg>Ttg	p.L289L	EMR1_uc010dvc.3_Silent_p.L289L|EMR1_uc010dvb.3_Silent_p.L237L|EMR1_uc010xji.2_Silent_p.L148L|EMR1_uc010xjj.2_Intron	NM_001974	NP_001965	Q14246	EMR1_HUMAN	Homo sapiens egf-like module containing, mucin-like, hormone receptor-like 1 (EMR1), transcript variant 1, mRNA.	289	EGF-like 6; calcium-binding (Potential).				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					CACCAATGCCCTGGGCTCCTA	0.473000														52			24		0	0	0.000720815	0	0
ARMC4	55130	broad.mit.edu	37	10	28273152	28273152	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr10:28273152C>T	uc009xky.3	-	4	741	c.643G>A	c.(643-645)Gga>Aga	p.G215R	ARMC4_uc010qds.2_5'Flank|ARMC4_uc010qdt.2_5'Flank|ARMC4_uc001itz.3_Missense_Mutation_p.G215R|ARMC4_uc010qdu.1_5'Flank	NM_018076	NP_060546	Q5T2S8	ARMC4_HUMAN	Homo sapiens armadillo repeat containing 4 (ARMC4), mRNA.	215							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						GTTTGGTTTCCTTTTCCTGAG	0.308000														125			46		0	0	0.00361006	0	0
PPP1CB	5500	broad.mit.edu	37	2	29006808	29006808	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:29006808C>T	uc002rmg.3	+	5	716	c.556C>T	c.(556-558)Cgg>Tgg	p.R186W	PPP1CB_uc010ymj.2_Missense_Mutation_p.R158W|PPP1CB_uc010yml.2_Missense_Mutation_p.R158W|PPP1CB_uc002rmh.3_Missense_Mutation_p.R186W|SPDYA_uc002rmi.3_5'UTR	NM_206876	NP_996759	P62140	PP1B_HUMAN	Homo sapiens protein phosphatase 1, catalytic subunit, beta isozyme (PPP1CB), transcript variant 3, mRNA.	186					cell cycle|cell division|glycogen metabolic process|triglyceride catabolic process	MLL5-L complex|PTW/PP1 phosphatase complex|nucleolus	metal ion binding|myosin phosphatase activity|myosin-light-chain-phosphatase activity|protein binding			cervix(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	9	Acute lymphoblastic leukemia(172;0.155)					GGAGCAGATTCGGAGAATTAT	0.328000														36			27		0	0	0.00327116	0	0
PCDHB7	56129	broad.mit.edu	37	5	140554011	140554011	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:140554011G>A	uc003lit.3	+	0	1769	c.1595G>A	c.(1594-1596)gGc>gAc	p.G532D		NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	Homo sapiens protocadherin beta 7 (PCDHB7), mRNA.	532	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTCCGCGTGGGCGCCACAGAC	0.697000														41			21		0	0	0.00188189	0	0
KCNQ4	9132	broad.mit.edu	37	1	41298783	41298783	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:41298783C>T	uc001cgh.2	+	10	1693	c.1611C>T	c.(1609-1611)atC>atT	p.I537I	KCNQ4_uc001cgi.2_Silent_p.I483I	NM_004700	NP_004691	P56696	KCNQ4_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 4 (KCNQ4), transcript variant 1, mRNA.	537					sensory perception of sound	basal plasma membrane|voltage-gated potassium channel complex				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(13)|skin(1)	26	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.38e-17)			TCCGCTCCATCAGGTAAGACT	0.597000														21			5		0	0	0.000602214	0	0
PRSS35	167681	broad.mit.edu	37	6	84234203	84234203	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:84234203C>T	uc003pjz.3	+	1	1283	c.1043C>T	c.(1042-1044)tCg>tTg	p.S348L	PRSS35_uc010kbm.3_Missense_Mutation_p.S348L|PRSS35_uc021zce.1_Missense_Mutation_p.S348L	NM_153362	NP_699193	Q8N3Z0	PRS35_HUMAN	Homo sapiens protease, serine, 35 (PRSS35), transcript variant 2, mRNA.	348	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|endometrium(2)|large_intestine(12)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	32		all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0768)		TCCACCGGTTCGGGGGTCTAT	0.517000														61			23		0	0	0.00395357	0	0
ZBTB20	26137	broad.mit.edu	37	3	114069714	114069714	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:114069714G>A	uc003ebi.3	-	3	1391	c.1211C>T	c.(1210-1212)gCt>gTt	p.A404V	ZBTB20_uc003ebj.3_Missense_Mutation_p.A331V|ZBTB20_uc010hqp.3_Missense_Mutation_p.A331V|ZBTB20_uc003ebk.3_Missense_Mutation_p.A331V|ZBTB20_uc003ebl.3_Missense_Mutation_p.A331V|ZBTB20_uc003ebm.3_Missense_Mutation_p.A331V|ZBTB20_uc003ebn.3_Missense_Mutation_p.A331V|ZBTB20-AS1_uc003ebo.2_5'Flank	NM_001164342	NP_056457	Q9HC78	ZBT20_HUMAN	Homo sapiens zinc finger and BTB domain containing 20 (ZBTB20), transcript variant 1, mRNA.	404					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		GGTGGGTTCAGCCTGGCTGTC	0.632000														34			17		0	0	0.00121646	0	0
TTLL2	83887	broad.mit.edu	37	6	167754124	167754124	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:167754124C>T	uc003qvs.1	+	2	824	c.736C>T	c.(736-738)Cct>Tct	p.P246S		NM_031949	NP_114155	Q9BWV7	TTLL2_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 2 (TTLL2), mRNA.	246	TTL.				protein modification process		ATP binding|tubulin-tyrosine ligase activity			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(66;7.8e-06)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		TATCTCCAATCCTTTACTTAT	0.383000														94			31		0	0	0.00127121	0	0
NOMO2	283820	broad.mit.edu	37	16	18532158	18532158	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr16:18532158G>A	uc002dfe.3	-	18	2274	c.2202C>T	c.(2200-2202)acC>acT	p.T734T	NOMO2_uc002dff.3_Silent_p.T734T|NOMO2_uc010bvx.3_Silent_p.T567T|Mir_548_uc021teb.1_5'Flank	NM_001004060	NP_001004060	Q5JPE7	NOMO2_HUMAN	Homo sapiens NODAL modulator 2 (NOMO2), transcript variant 1, mRNA.	734						endoplasmic reticulum membrane|integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding			endometrium(4)|kidney(1)|large_intestine(2)|liver(3)|lung(5)|ovary(3)|prostate(1)|skin(1)	20						CGGGAGGCTTGGTCATTCTTT	0.557000														212			39		0	0	0.00361006	0	0
CRAT	1384	broad.mit.edu	37	9	131860856	131860856	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr9:131860856G>A	uc004bxh.3	-	8	1441	c.1159C>T	c.(1159-1161)Ccc>Tcc	p.P387S	CRAT_uc004bxk.4_Missense_Mutation_p.P366S	NM_000755	NP_000746	P43155	CACP_HUMAN	Homo sapiens carnitine O-acetyltransferase (CRAT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	387					energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA oxidase|transport	endoplasmic reticulum|mitochondrial inner membrane|peroxisomal matrix	carnitine O-acetyltransferase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)	L-Carnitine(DB00583)	TTGATCTCGGGGGTGATGTTG	0.617000														127			36		0	0	0.00148497	0	0
FBXO40	51725	broad.mit.edu	37	3	121345629	121345629	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:121345629C>T	uc003eeg.2	+	3	2212	c.2002C>T	c.(2002-2004)Cct>Tct	p.P668S		NM_016298	NP_057382	Q9UH90	FBX40_HUMAN	Homo sapiens F-box protein 40 (FBXO40), mRNA.	668					muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding	p.P668L(1)		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)		GAAGTCCTGTCCTTTCAACAT	0.478000														80			34		0	0	0.00375469	0	0
NME8	51314	broad.mit.edu	37	7	37934091	37934091	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:37934091G>A	uc003tfn.3	+	15	1795	c.1423G>A	c.(1423-1425)Gag>Aag	p.E475K		NM_016616	NP_057700	Q8N427	TXND3_HUMAN	Homo sapiens thioredoxin domain containing 3 (spermatozoa) (TXNDC3), mRNA.	475	NDK 3.				CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process|cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity										GATAGTTAAGGAGGCTGGATT	0.328000														58			33		0	0	0.00375469	0	0
NT5C1B-RDH14	100526794	broad.mit.edu	37	2	18765453	18765453	+	Silent	SNP	C	T	T	rs151116969		TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:18765453C>T	uc010exr.3	-	4	910	c.798G>A	c.(796-798)agG>agA	p.R266R	NT5C1B-RDH14_uc002rcy.3_Silent_p.R324R|NT5C1B-RDH14_uc010yju.2_Silent_p.R264R|NT5C1B-RDH14_uc002rcz.3_Silent_p.R324R|NT5C1B-RDH14_uc010yjw.2_Silent_p.R307R|NT5C1B-RDH14_uc010yjv.2_Silent_p.R341R|NT5C1B-RDH14_uc010exs.3_Silent_p.R326R|NT5C1B-RDH14_uc002rda.3_Silent_p.R264R|U6_uc021vej.1_5'Flank|NT5C1B-RDH14_uc002rdb.1_Silent_p.R116R	NM_001199103	NP_001186032	Q96P26	5NT1B_HUMAN	Homo sapiens NT5C1B-RDH14 readthrough (NT5C1B-RDH14), transcript variant 1, mRNA.	324					purine base metabolic process|purine nucleotide catabolic process	cytosol	5'-nucleotidase activity|magnesium ion binding|nucleotide binding	p.R324R(1)									CGTAGATTTTCCTGCCGTCCA	0.562000														90			38		0	0	0.00222228	0	0
KL	9365	broad.mit.edu	37	13	33635671	33635671	+	Nonsense_Mutation	SNP	G	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr13:33635671G>T	uc001uus.3	+	3	2463	c.2455G>T	c.(2455-2457)Gaa>Taa	p.E819*	KL_uc001uur.1_3'UTR	NM_004795	NP_004786	Q9UEF7	KLOT_HUMAN	Homo sapiens klotho (KL), mRNA.	819	Glycosyl hydrolase-1 2.				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		CTCAGAAAAAGAAGATCCAAT	0.428000														35			17		2.48551e-13	7.838e-13	0.000566183	1	0
SPTA1	6708	broad.mit.edu	37	1	158597434	158597434	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:158597434C>T	uc001fst.1	-	39	5844	c.5645G>A	c.(5644-5646)gGa>gAa	p.G1882E		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	1882					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)					GATGTCTTCTCCTTGTGCACA	0.418000														67			26		0	0	0.00106085	0	0
OR52B4	143496	broad.mit.edu	37	11	4388923	4388923	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:4388923C>T	uc010qye.2	-	0	694	c.603G>A	c.(601-603)ggG>ggA	p.G201G		NM_001005161	NP_001005161	Q8NGK2	O52B4_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily B, member 4 (OR52B4), mRNA.	201					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(15)|skin(2)	31		Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577)		Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19)		GAATGGAAAACCCATACCAAA	0.378000														47			21		0	0	0.00152264	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140712271	140712271	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:140712271G>A	uc003lji.2	+	0	2020	c.2020G>A	c.(2020-2022)Gac>Aac	p.D674N	PCDHGC5_uc011dan.2_Missense_Mutation_p.D674N	NM_018912	NP_061735	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 1 (PCDHGA1), transcript variant 1, mRNA.	676	Cadherin 6.				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)			CATCCTGGCCGACCTGGGCAG	0.692000														62			31		0	0	0.00178596	0	0
AP2A2	161	broad.mit.edu	37	11	993824	993824	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:993824C>T	uc001lst.2	+	12	1837	c.1624C>T	c.(1624-1626)Ctg>Ttg	p.L542L	AP2A2_uc009yco.2_Non-coding_Transcript|AP2A2_uc001lss.3_Silent_p.L541L|AP2A2_uc009ycq.1_Silent_p.L132L	NM_001242837	NP_001229766	O94973	AP2A2_HUMAN	Homo sapiens adaptor-related protein complex 2, alpha 2 subunit (AP2A2), transcript variant 1, mRNA.	541					axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|cytosol	lipid binding|protein transporter activity			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)	21		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.75e-24)|BRCA - Breast invasive adenocarcinoma(625;5.73e-05)|Lung(200;0.0696)|LUSC - Lung squamous cell carcinoma(625;0.082)		CGCGCTGCTCCTGTCCACCTA	0.637000														10			3		0	0	0.000602214	0	0
XIRP1	165904	broad.mit.edu	37	3	39227663	39227663	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:39227663C>T	uc003cjk.2	-	1	3503	c.3274G>A	c.(3274-3276)Ggt>Agt	p.G1092S	XIRP1_uc003cji.3_Missense_Mutation_p.G1092S|XIRP1_uc003cjj.3_Intron|XIRP1_uc021wvz.1_Missense_Mutation_p.G1092S	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN	Homo sapiens xin actin-binding repeat containing 1 (XIRP1), transcript variant 1, mRNA.	1092							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)		TTCCGAAGACCGTCCTGGATG	0.602000														25			17		0	0	0.00188189	0	0
OR7E24	26648	broad.mit.edu	37	19	9362289	9362289	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:9362289G>A	uc002mlb.1	+	0	570	c.570G>A	c.(568-570)gtG>gtA	p.V190V		NM_001079935	NP_001073404	Q6IFN5	O7E24_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily E, member 24 (OR7E24), mRNA.	190					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)	16						TCAAGGATGTGGACATTTCTA	0.403000														31			15		0	0	0.00244969	0	0
ACSM2B	348158	broad.mit.edu	37	16	20548646	20548646	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr16:20548646C>T	uc002dhj.4	-	14	1878	c.1668G>A	c.(1666-1668)ggG>ggA	p.G556G	ACSM2B_uc002dhk.4_Silent_p.G556G	NM_182617	NP_872423	Q68CK6	ACS2B_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 2B (ACSM2B), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	556					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|CoA-ligase activity|butyrate-CoA ligase activity|metal ion binding	p.G556W(1)		breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						GTTGAATTTTCCCTGTGACAG	0.473000														163			70		0	0	0.00361006	0	0
CTAGE1	64693	broad.mit.edu	37	18	19997691	19997691	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr18:19997691G>A	uc002ktv.1	-	0	188	c.84C>T	c.(82-84)ttC>ttT	p.F28F		NM_172241	NP_758441	Q96RT6	CTGE2_HUMAN	Homo sapiens cutaneous T-cell lymphoma-associated antigen 1 (CTAGE1), transcript variant 1, mRNA.	28						integral to membrane				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					TTCTCCACAAGAAGAGAACAG	0.413000														32			13		0	0	0.00136819	0	0
SPTAN1	6709	broad.mit.edu	37	9	131353854	131353854	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr9:131353854C>T	uc004bvl.4	+	21	3247	c.3105C>T	c.(3103-3105)ctC>ctT	p.L1035L	SPTAN1_uc011mbg.2_Silent_p.L1035L|SPTAN1_uc011mbh.2_Silent_p.L1047L|SPTAN1_uc004bvm.4_Silent_p.L1035L|SPTAN1_uc004bvn.4_Silent_p.L1035L	NM_003127	NP_003118	Q13813	SPTA2_HUMAN	Homo sapiens spectrin, alpha, non-erythrocytic 1 (alpha-fodrin) (SPTAN1), transcript variant 2, mRNA.	1035					actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						GGGAGAATCTCCTGGAGGAGC	0.572000														83			49		0	0	0.00361006	0	0
ATP10D	57205	broad.mit.edu	37	4	47574980	47574980	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr4:47574980C>T	uc003gxk.1	+	17	3496	c.3332C>T	c.(3331-3333)tCc>tTc	p.S1111F	ATP10D_uc003gxl.1_Missense_Mutation_p.S359F	NM_020453	NP_065186	Q9P241	AT10D_HUMAN	Homo sapiens ATPase, class V, type 10D (ATP10D), mRNA.	1111					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						ACACGGCTTTCCAACATGATT	0.448000														111			47		0	0	0.00361006	0	0
KCNK13	56659	broad.mit.edu	37	14	90650698	90650698	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr14:90650698C>T	uc001xye.1	+	1	1020	c.578C>T	c.(577-579)tCc>tTc	p.S193F		NM_022054	NP_071337	Q9HB14	KCNKD_HUMAN	Homo sapiens potassium channel, subfamily K, member 13 (KCNK13), mRNA.	193						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)				TGGAAGCCCTCCGTGTACTAC	0.627000														42			31		0	0	0.0024448	0	0
SLC34A1	6569	broad.mit.edu	37	5	176812783	176812783	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:176812783C>T	uc003mgk.4	+	1	145	c.41C>T	c.(40-42)tCc>tTc	p.S14F	SLC34A1_uc021yis.1_Missense_Mutation_p.S14F	NM_003052	NP_003043	Q06495	NPT2A_HUMAN	Homo sapiens solute carrier family 34 (sodium phosphate), member 1 (SLC34A1), transcript variant 1, mRNA.	14					phosphate ion homeostasis|response to cadmium ion|response to lead ion|response to mercury ion|sodium ion transport	brush border membrane|integral to plasma membrane	protein binding|sodium-dependent phosphate transmembrane transporter activity|symporter activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	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)			CCTGCTGTCTCCCCACTCCCA	0.622000														17			8		0	0	0.000442599	0	0
PEX5	5830	broad.mit.edu	37	12	7361653	7361653	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:7361653C>T	uc009zfu.2	+	14	2027	c.1447C>T	c.(1447-1449)Cct>Tct	p.P483S	PEX5_uc001qsw.3_Missense_Mutation_p.P483S|PEX5_uc010sgc.2_Missense_Mutation_p.P498S|PEX5_uc001qsu.3_Missense_Mutation_p.P446S|PEX5_uc010sgd.2_Missense_Mutation_p.P504S|PEX5_uc001qsv.3_Missense_Mutation_p.P475S	NM_001131026	NP_001124498	P50542	PEX5_HUMAN	Homo sapiens peroxisomal biogenesis factor 5 (PEX5), transcript variant 5, mRNA.	483					protein import into peroxisome matrix, translocation|protein targeting to peroxisome|protein tetramerization|protein transport	cytosol|peroxisomal matrix|peroxisomal membrane	peroxisome matrix targeting signal-1 binding|protein C-terminus binding|protein N-terminus binding	p.V482L(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)	21						GCGGCTGGACCCTACCTCCAT	0.507000														70			38		0	0	0.00128727	0	0
SP140	11262	broad.mit.edu	37	2	231158985	231158985	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:231158985G>A	uc002vql.3	+	21	2084	c.1969_splice	c.e21-1	p.N657_splice	SP140_uc010zma.1_Splice_Site|SP140_uc002vqn.3_Splice_Site_p.N543_splice|SP140_uc002vqm.3_Splice_Site_p.N597_splice|SP140_uc010fxl.3_Splice_Site_p.N630_splice	NM_007237	NP_009168	Q13342	LY10_HUMAN	Homo sapiens SP140 nuclear body protein (SP140), transcript variant 1, mRNA.	657	SAND.				defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		TTGTCTTTCAGAATGGATTTC	0.383000														29			12		0	0	0.00316338	0	0
CX3CR1	1524	broad.mit.edu	37	3	39307674	39307674	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:39307674G>A	uc021wwc.1	-	1	463	c.423C>T	c.(421-423)ttC>ttT	p.F141F	CX3CR1_uc021wwa.1_Silent_p.F109F|CX3CR1_uc021wwb.1_Silent_p.F109F|CX3CR1_uc003cjl.3_Silent_p.F109F|CX3CR1_uc021wwd.1_Silent_p.F109F	NM_001171174	NP_001164645	P49238	CX3C1_HUMAN	Homo sapiens chemokine (C-X3-C motif) receptor 1 (CX3CR1), transcript variant 1, mRNA.	109					cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding	integral to plasma membrane	chemokine receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699)		AGCCGATGAAGAAGAAGGCGG	0.483000														24			20		0	0	0.00152264	0	0
NEURL3	93082	broad.mit.edu	37	2	97166176	97166176	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:97166176C>T	uc010yuo.2	-	1	585	c.514G>A	c.(514-516)Ggt>Agt	p.G172S	NEURL3_uc010fhx.3_Splice_Site|NEURL3_uc002swc.3_Splice_Site|NEURL3_uc010yup.1_Splice_Site					Homo sapiens neuralized homolog 3 (Drosophila) pseudogene (NEURL3), non-coding RNA.																		GTCGCCTCACCCAGCAGCTCG	0.687000														5			6		0	0	0.00198382	0	0
LYST	1130	broad.mit.edu	37	1	235915467	235915467	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:235915467G>A	uc001hxj.2	-	26	7640	c.7465C>T	c.(7465-7467)Ccc>Tcc	p.P2489S	LYST_uc009xga.1_Missense_Mutation_p.P71S	NM_000081	NP_000072	Q99698	LYST_HUMAN	Homo sapiens lysosomal trafficking regulator (LYST), mRNA.	2489					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	p.I2488V(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TCACTCATGGGAATGCTAAAG	0.308000														39			10		0	0	0.00136819	0	0
REEP2	51308	broad.mit.edu	37	5	137780970	137780970	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:137780970C>T	uc003lda.3	+	5	593	c.471C>T	c.(469-471)acC>acT	p.T157T	REEP2_uc003lcz.3_Silent_p.T155T|REEP2_uc011cyt.2_Silent_p.T116T	NM_016606	NP_057690	Q9BRK0	REEP2_HUMAN	Homo sapiens receptor accessory protein 2 (REEP2), mRNA.	155						integral to membrane				endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			AGGACCTGACCCTGATCCGGG	0.692000														35			11		0	0	0.00185496	0	0
COL6A6	131873	broad.mit.edu	37	3	130285619	130285619	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:130285619C>T	uc010htl.3	+	3	1387	c.1356C>T	c.(1354-1356)ttC>ttT	p.F452F		NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	Homo sapiens collagen, type VI, alpha 6 (COL6A6), mRNA.	452	Nonhelical region.|VWFA 3.				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						CCACAGATTTCCATGAAATGA	0.498000														55			19		0	0	0.00074312	0	0
KIAA0100	9703	broad.mit.edu	37	17	26965341	26965341	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr17:26965341G>A	uc002hbu.3	-	12	1544	c.1441C>T	c.(1441-1443)Cag>Tag	p.Q481*		NM_014680	NP_055495	Q14667	K0100_HUMAN	Homo sapiens KIAA0100 (KIAA0100), mRNA.	481						extracellular region				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					GGCGCCCGCTGAATGTGGGAG	0.572000														26			26		0	0	0.00395357	0	0
OR5F1	338674	broad.mit.edu	37	11	55761238	55761238	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:55761238C>T	uc010riv.2	-	0	864	c.864G>A	c.(862-864)ctG>ctA	p.L288L		NM_003697	NP_003688	O95221	OR5F1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily F, member 1 (OR5F1), mRNA.	288					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					GGCTGTAGATCAGAGGATTCA	0.433000														27			18		0	0	0.00074312	0	0
DPY19L2P3	442524	broad.mit.edu	37	7	29771574	29771574	+	RNA	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:29771574C>T	uc003tai.3	+	8		c.650C>T								Homo sapiens dpy-19-like 2 pseudogene 3 (C. elegans) (DPY19L2P3), transcript variant 1, non-coding RNA.																		ATGCTGTCTTCGCAGTGCCAT	0.398000														44			22		0	0	0.00278032	0	0
PALB2	79728	broad.mit.edu	37	16	23625360	23625360	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr16:23625360G>A	uc002dlx.1	-	10	3366	c.3166C>T	c.(3166-3168)Caa>Taa	p.Q1056*		NM_024675	NP_078951	Q86YC2	PALB2_HUMAN	Homo sapiens partner and localizer of BRCA2 (PALB2), mRNA.	1056	Interaction with RAD51 and BRCA2.				double-strand break repair via homologous recombination	nucleoplasm	DNA binding|protein binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55				GBM - Glioblastoma multiforme(48;0.0167)		ACTGAAGCTTGGTAAGAATCA	0.368000			"""F, N, Mis"""			"""Wilms tumor, medulloblastoma, AML ,breast"""		Involved in tolerance or repair of DNA crosslinks						29			9		0	0	0.00136819	0	0
UST	10090	broad.mit.edu	37	6	149262487	149262487	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:149262487C>T	uc003qmg.3	+	2	660	c.364C>T	c.(364-366)Ctg>Ttg	p.L122L		NM_005715	NP_005706	Q9Y2C2	UST_HUMAN	Homo sapiens uronyl-2-sulfotransferase (UST), mRNA.	122					protein sulfation	Golgi membrane|integral to membrane	sulfotransferase activity			breast(1)|endometrium(3)|large_intestine(4)|lung(2)|ovary(2)	12		Ovarian(120;0.0907)		OV - Ovarian serous cystadenocarcinoma(155;1.78e-10)|GBM - Glioblastoma multiforme(68;0.138)		GGTCTTGCTTCTGAGAATCTT	0.438000														79			34		0	0	0.00327116	0	0
SLU7	10569	broad.mit.edu	37	5	159834755	159834755	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:159834755T>C	uc003lyg.3	-	9	1138	c.983A>G	c.(982-984)cAg>cGg	p.Q328R		NM_006425	NP_006416	O95391	SLU7_HUMAN	Homo sapiens SLU7 splicing factor homolog (S. cerevisiae) (SLU7), mRNA.	328					alternative nuclear mRNA splicing, via spliceosome|nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|cytoplasm|nuclear speck|small nuclear ribonucleoprotein complex	pre-mRNA 3'-splice site binding|second spliceosomal transesterification activity|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(4)|lung(6)|ovary(1)	20	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ACACTTACACTGTGTCTGAGC	0.358000														88			31		0	0	0.00327116	0	0
ATP8B4	79895	broad.mit.edu	37	15	50193395	50193395	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr15:50193395G>A	uc001zxu.3	-	20	2325	c.2183C>T	c.(2182-2184)tCc>tTc	p.S728F	ATP8B4_uc010ber.3_Missense_Mutation_p.S601F|ATP8B4_uc010ufd.2_Missense_Mutation_p.S538F|ATP8B4_uc010ufe.2_Intron|ATP8B4_uc001zxv.1_Missense_Mutation_p.S26F	NM_024837	NP_079113	Q8TF62	AT8B4_HUMAN	Homo sapiens ATPase, class I, type 8B, member 4 (ATP8B4), mRNA.	728					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		ATGGCCATTGGAAAAATTTCT	0.358000														25			16		0	0	0.00400662	0	0
DOPEY2	9980	broad.mit.edu	37	21	37650331	37650331	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr21:37650331C>T	uc002yvg.3	+	28	5850	c.5771C>T	c.(5770-5772)cCg>cTg	p.P1924L	DOPEY2_uc011aeb.2_Missense_Mutation_p.P1873L	NM_005128	NP_005119	Q9Y3R5	DOP2_HUMAN	Homo sapiens dopey family member 2 (DOPEY2), mRNA.	1924					Golgi to endosome transport|endoplasmic reticulum organization|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						AAAGCTGTGCCGTTAATCTCC	0.448000														74			31		0	0	0.00111076	0	0
RUFY3	22902	broad.mit.edu	37	4	71648890	71648891	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr4:71648890_71648891CC>TT	uc003hfr.3	+	8	1572_1573	c.977_978CC>TT	c.(976-978)tcc>tTT	p.S326F	RUFY3_uc003hfp.4_Missense_Mutation_p.S386F|RUFY3_uc003hfq.3_Missense_Mutation_p.S326F|RUFY3_uc011cax.2_Missense_Mutation_p.S344F|RUFY3_uc011cay.2_Missense_Mutation_p.S262F	NM_001037442	NP_001032519	Q7L099	RUFY3_HUMAN	Homo sapiens RUN and FYVE domain containing 3 (RUFY3), transcript variant 1, mRNA.	326					negative regulation of axonogenesis	filopodium|growth cone				endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	16		all_hematologic(202;0.248)	Lung(101;0.235)			ATACTGGAATCCAATCGGAAGG	0.356000														20			12		0	0	6.4e-05	0	0
MUC17	140453	broad.mit.edu	37	7	100692607	100692607	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:100692607G>A	uc003uxp.1	+	5	12719	c.12666G>A	c.(12664-12666)atG>atA	p.M4222I	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	4222	SEA.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CCTTTCAGATGAATATTGTGT	0.577000														117			32		0	0	0.00428921	0	0
CCDC73	493860	broad.mit.edu	37	11	32674768	32674768	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:32674768G>A	uc001mtv.3	-	11	884	c.840C>T	c.(838-840)atC>atT	p.I280I	CCDC73_uc001mtw.1_Intron	NM_001008391	NP_001008392	Q6ZRK6	CCD73_HUMAN	Homo sapiens coiled-coil domain containing 73 (CCDC73), mRNA.	280										NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					AAGAAATGATGATATCCTTTG	0.303000														43			21		0	0	0.00188189	0	0
ANGPT1	284	broad.mit.edu	37	8	108334231	108334231	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr8:108334231T>C	uc003ymn.3	-	3	1169	c.701A>G	c.(700-702)gAa>gGa	p.E234G	ANGPT1_uc011lhv.2_Missense_Mutation_p.E34G|ANGPT1_uc003ymo.3_Missense_Mutation_p.E234G|ANGPT1_uc003ymp.4_Missense_Mutation_p.E34G	NM_001146	NP_001137	Q15389	ANGP1_HUMAN	Homo sapiens angiopoietin 1 (ANGPT1), transcript variant 1, mRNA.	234					Tie receptor signaling pathway|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of ERK1 and ERK2 cascade|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis	extracellular space|membrane raft|microvillus|plasma membrane	receptor tyrosine kinase binding			NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	43	Breast(1;5.06e-08)		OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)			TAATTGCTTTTCCAGCTCCTG	0.428000														65			36		0	0	0.00375469	0	0
ZNF718	255403	broad.mit.edu	37	4	87033	87033	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr4:87033C>T	uc003fzv.1	+	5	1741	c.1585C>T	c.(1585-1587)Cgg>Tgg	p.R529W	ZNF718_uc003fzt.4_Intron|ZNF718_uc003fzu.1_Intron|ZNF718_uc011bus.1_Missense_Mutation_p.R315W|ZNF718_uc011but.1_Missense_Mutation_p.R315W	NM_182524	NP_872330	Q3SXZ3	ZN718_HUMAN	Homo sapiens zinc finger protein 595 (ZNF595), mRNA.	406					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0681)|Epithelial(2;0.0838)|all cancers(2;0.135)|LUSC - Lung squamous cell carcinoma(95;0.18)		AGCCTTTACTCGGTCCACAGC	0.393000														55			21		0	0	0.00229938	0	0
NLRP10	338322	broad.mit.edu	37	11	7982828	7982828	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:7982828C>T	uc001mfv.1	-	1	348	c.331G>A	c.(331-333)Gaa>Aaa	p.E111K		NM_176821	NP_789791	Q86W26	NAL10_HUMAN	Homo sapiens NLR family, pyrin domain containing 10 (NLRP10), mRNA.	111							ATP binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TCCTGCCATTCCTCTAGGCAG	0.517000														56			19		0	0	0.00278032	0	0
OR4C15	81309	broad.mit.edu	37	11	55322769	55322769	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:55322769C>T	uc010rig.2	+	0	987	c.987C>T	c.(985-987)atC>atT	p.I329I		NM_001001920	NP_001001920	Q8NGM1	OR4CF_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 15 (OR4C15), mRNA.	275					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						TATTTTATATCATCTTAAATC	0.378000										HNSCC(20;0.049)				46			38		0	0	0.00148497	0	0
DMBT1	1755	broad.mit.edu	37	10	124336154	124336154	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr10:124336154G>A	uc001lgk.1	+	6	629	c.523G>A	c.(523-525)Gaa>Aaa	p.E175K	DMBT1_uc001lgl.1_Missense_Mutation_p.E175K|DMBT1_uc001lgm.1_Missense_Mutation_p.E175K|DMBT1_uc021qaf.1_Missense_Mutation_p.E175K|DMBT1_uc021qag.1_Missense_Mutation_p.E175K|DMBT1_uc021qah.1_Missense_Mutation_p.E175K|DMBT1_uc009xzz.1_Missense_Mutation_p.E175K|DMBT1_uc010qtx.1_Missense_Mutation_p.E175K|DMBT1_uc009yaa.1_Missense_Mutation_p.E27K	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.	175	SRCR 1.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|calcium-dependent protein binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				CTCAGGACACGAATCCTACCT	0.582000														42			32		0	0	0.00375469	0	0
SLC27A5	10998	broad.mit.edu	37	19	59012663	59012663	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:59012663T>C	uc002qtc.2	-	3	1282	c.1172A>G	c.(1171-1173)aAc>aGc	p.N391S	SLC27A5_uc002qtb.3_5'Flank	NM_012254	NP_036386	Q9Y2P5	S27A5_HUMAN	Homo sapiens solute carrier family 27 (fatty acid transporter), member 5 (SLC27A5), mRNA.	391					bile acid and bile salt transport|bile acid biosynthetic process|very long-chain fatty acid metabolic process	endoplasmic reticulum membrane|integral to membrane	ATP binding|cholate-CoA ligase activity|long-chain fatty acid-CoA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)		CTGGGGAATGTTACACAAGTA	0.517000														98			57		0	0	0.00361006	0	0
LRRIQ4	344657	broad.mit.edu	37	3	169540497	169540497	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:169540497G>A	uc003fgb.3	+	0	788	c.788G>A	c.(787-789)gGg>gAg	p.G263E		NM_001080460	NP_001073929	A6NIV6	LRIQ4_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 4 (LRRIQ4), mRNA.	263										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						ACGGAAATCGGGCTGAGCGGG	0.607000														25			6		0	0	0.00198382	0	0
CORO2A	7464	broad.mit.edu	37	9	100888860	100888860	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr9:100888860C>T	uc004aym.3	-	10	1533	c.1417G>A	c.(1417-1419)Gaa>Aaa	p.E473K	CORO2A_uc004ayl.3_Missense_Mutation_p.E473K|CORO2A_uc004ayk.3_Missense_Mutation_p.E120K	NM_052820	NP_438171	Q92828	COR2A_HUMAN	Homo sapiens coronin, actin binding protein, 2A (CORO2A), transcript variant 2, mRNA.	473					actin cytoskeleton organization|intracellular signal transduction	actin cytoskeleton|transcriptional repressor complex	actin filament binding	p.E473K(2)|p.F472F(1)|p.E473D(1)		endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|skin(4)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				GGGGGGCATTCGAAAACGTCA	0.567000														133			31		0	0	0.00111076	0	0
TSPAN17	26262	broad.mit.edu	37	5	176079893	176079893	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:176079893C>T	uc003met.3	+	3	664	c.435C>T	c.(433-435)ctC>ctT	p.L145L	TSPAN17_uc003mes.3_Silent_p.L79L|TSPAN17_uc003meu.3_Silent_p.L145L|TSPAN17_uc003mew.3_Silent_p.L145L	NM_012171	NP_036303	Q96FV3	TSN17_HUMAN	Homo sapiens tetraspanin 17 (TSPAN17), transcript variant 1, mRNA.	145						integral to membrane|ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|urinary_tract(1)	13	all_cancers(89;0.00141)|Renal(175;0.000269)|Lung NSC(126;0.00814)|all_lung(126;0.0133)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCCAGAACCTCATTGACTTTG	0.537000														110			40		0	0	0.00361006	0	0
ANKK1	255239	broad.mit.edu	37	11	113270613	113270613	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:113270613T>A	uc001pny.3	+	7	2016	c.1922T>A	c.(1921-1923)gTg>gAg	p.V641E		NM_178510	NP_848605	Q8NFD2	ANKK1_HUMAN	Homo sapiens ankyrin repeat and kinase domain containing 1 (ANKK1), mRNA.	641							ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|stomach(1)	29		all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194)		BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238)		GAGGAGGCGGTGGTGTCAGCA	0.627000														11			6		0	0	0.00116845	0	0
B4GALNT3	283358	broad.mit.edu	37	12	665942	665942	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:665942G>A	uc001qii.1	+	14	2290	c.2290G>A	c.(2290-2292)Gtc>Atc	p.V764I	B4GALNT3_uc001qik.1_Missense_Mutation_p.V313I	NM_173593	NP_775864	Q6L9W6	B4GN3_HUMAN	Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 3 (B4GALNT3), mRNA.	764						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			TAGGAGACAGGTCCTGAATAC	0.647000														20			11		0	0	0.000978159	0	0
PLCZ1	89869	broad.mit.edu	37	12	18852779	18852779	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:18852779C>T	uc021qvx.1	-	9	1314	c.1123G>A	c.(1123-1125)Gaa>Aaa	p.E375K	PLCZ1_uc001rdv.4_Missense_Mutation_p.E271K|PLCZ1_uc001rdw.4_Missense_Mutation_p.E116K|PLCZ1_uc001rdu.1_Missense_Mutation_p.E157K|PLCZ1_uc009zil.1_Non-coding_Transcript	NM_033123	NP_149114	Q86YW0	PLCZ1_HUMAN	Homo sapiens phospholipase C, zeta 1 (PLCZ1), mRNA.	375	PI-PLC Y-box.				intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					GAATTATTTTCATTAAATTGC	0.313000														63			27		0	0	0.00127121	0	0
TMEM202	338949	broad.mit.edu	37	15	72700033	72700033	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr15:72700033G>A	uc002auq.3	+	5	620	c.620_splice	c.e5-1	p.G207_splice	TMEM202_uc002aur.3_Splice_Site	NM_001080462	NP_001073931	A6NGA9	TM202_HUMAN	Homo sapiens transmembrane protein 202 (TMEM202), mRNA.	207						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	18						TTCCCGTAGGGATCATCTCTC	0.443000														8			44		0	0	0.00361006	0	0
SLFN13	146857	broad.mit.edu	37	17	33772608	33772608	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr17:33772608C>T	uc002hjk.1	-	0	422	c.92G>A	c.(91-93)aGa>aAa	p.R31K	SLFN13_uc010wch.1_Missense_Mutation_p.R31K|SLFN13_uc002hjl.2_Missense_Mutation_p.R31K|SLFN13_uc002hjm.2_5'UTR|SLFN13_uc010ctt.2_Intron	NM_144682	NP_653283	Q68D06	SLN13_HUMAN	Homo sapiens schlafen family member 13 (SLFN13), mRNA.	31						intracellular	ATP binding			NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	31				UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		TAGCTTTTTTCTGTTTTCTTC	0.478000														59			44		0	0	0.00285205	0	0
CR1L	1379	broad.mit.edu	37	1	207890857	207890857	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:207890857G>A	uc001hga.4	+	10	1584	c.1463G>A	c.(1462-1464)gGa>gAa	p.G488E	CR1L_uc001hfz.2_Non-coding_Transcript|CR1L_uc001hgb.1_Non-coding_Transcript	NM_175710	NP_783641	Q2VPA4	CR1L_HUMAN	Homo sapiens complement component (3b/4b) receptor 1-like (CR1L), mRNA.	488	Sushi 8.					cytoplasm|extracellular region|membrane		p.G488E(1)|p.G488A(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						AGACACACAGGAACTCCCCTT	0.428000														81			28		0	0	0.0024448	0	0
R3HDM1	23518	broad.mit.edu	37	2	136433040	136433040	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:136433040C>T	uc002tuo.3	+	18	2556	c.2186C>T	c.(2185-2187)tCa>tTa	p.S729L	R3HDM1_uc010fni.3_Missense_Mutation_p.S728L|R3HDM1_uc002tup.3_Missense_Mutation_p.S674L|R3HDM1_uc010zbh.2_Missense_Mutation_p.S477L	NM_015361	NP_056176	Q15032	R3HD1_HUMAN	Homo sapiens R3H domain containing 1 (R3HDM1), mRNA.	729							nucleic acid binding			breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38				BRCA - Breast invasive adenocarcinoma(221;0.127)		CCCTATACTTCAGTGCCAACA	0.418000														68			24		0	0	0.00106085	0	0
BPIFC	254240	broad.mit.edu	37	22	32827390	32827390	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr22:32827390G>A	uc003amn.2	-	10	1161	c.1161C>T	c.(1159-1161)acC>acT	p.T387T	BPIFC_uc010gwo.2_Silent_p.T144T|BPIFC_uc011amb.1_Silent_p.T111T	NM_174932	NP_777592	Q8NFQ6	BPIL2_HUMAN	Homo sapiens BPI fold containing family C (BPIFC), mRNA.	387						extracellular region	lipopolysaccharide binding|phospholipid binding										GGCCAACACTGGTACTAGCAA	0.373000														22			8		0	0	0.000274275	0	0
LILRA1	11024	broad.mit.edu	37	19	55106319	55106319	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:55106319C>T	uc002qgh.1	+	3	442	c.260C>T	c.(259-261)tCc>tTc	p.S87F	LILRA1_uc010yfg.1_Intron|LILRA1_uc010yfh.2_Missense_Mutation_p.S87F	NM_006863	NP_006854	O75019	LIRA1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1 (LILRA1), mRNA.	87	Ig-like C2-type 1.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		CCCATCCCATCCATCACCTGG	0.562000														60			30		0	0	0.00178596	0	0
ZNF804A	91752	broad.mit.edu	37	2	185800571	185800571	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:185800571G>A	uc002uph.3	+	3	1042	c.448G>A	c.(448-450)Gaa>Aaa	p.E150K		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	Homo sapiens zinc finger protein 804A (ZNF804A), mRNA.	150						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						AAACTGTAATGAAATTTCCCA	0.373000														46			14		0	0	0.00244969	0	0
SLC6A13	6540	broad.mit.edu	37	12	369043	369044	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:369043_369044GG>AA	uc001qic.2	-	1	265_266	c.175_176CC>TT	c.(175-177)ccc>TTc	p.P59F	SLC6A13_uc009zdj.2_Missense_Mutation_p.P59F|SLC6A13_uc010sdl.2_Missense_Mutation_p.P59F|SLC6A13_uc001qid.2_Missense_Mutation_p.P59F	NM_016615	NP_057699	Q9NSD5	S6A13_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, GABA), member 13 (SLC6A13), transcript variant 1, mRNA.	59					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			GCAGAGATAGGGAAACCTCCAG	0.564000														91			42		0	0	6.4e-05	0	0
PIK3C2A	5286	broad.mit.edu	37	11	17190814	17190814	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:17190814G>A	uc001mmq.4	-	0	540	c.475C>T	c.(475-477)Cct>Tct	p.P159S	PIK3C2A_uc009ygu.1_Intron|PIK3C2A_uc010rcw.2_Intron|PIK3C2A_uc001mmr.3_Non-coding_Transcript|PIK3C2A_uc010rcx.1_Missense_Mutation_p.P159S|PIK3C2A_uc009ygv.1_Missense_Mutation_p.P159S	NM_002645	NP_002636	O00443	P3C2A_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, alpha polypeptide (PIK3C2A), mRNA.	159					cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	Golgi apparatus|clathrin-coated vesicle|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58					Phosphatidylserine(DB00144)	TAAGTAGAAGGATAAATAGAA	0.418000														58			24		0	0	0.000878237	0	0
PCDH15	65217	broad.mit.edu	37	10	55568613	55568613	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr10:55568613C>T	uc021pqw.1	-	35	5601	c.5206G>A	c.(5206-5208)Gaa>Aaa	p.E1736K	PCDH15_uc010qhq.2_Intron|PCDH15_uc010qhr.2_Intron|PCDH15_uc021pqv.1_3'UTR|PCDH15_uc010qht.2_Missense_Mutation_p.E1731K|PCDH15_uc021pqx.1_3'UTR	NM_001142769	NP_001136241	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant I, mRNA.	0					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	p.A1735A(2)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TCCTCACTTTCCACACCTCCT	0.507000										HNSCC(58;0.16)				5			6		0	0	0.00307968	0	0
TBCK	93627	broad.mit.edu	37	4	107165818	107165818	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr4:107165818G>A	uc010ilv.2	-	10	1400	c.1035C>T	c.(1033-1035)atC>atT	p.I345I	TBCK_uc003hyb.2_Silent_p.I88I|TBCK_uc003hye.2_Silent_p.I306I|TBCK_uc003hyc.2_Silent_p.I282I|TBCK_uc003hyd.2_Silent_p.I173I|TBCK_uc003hyf.2_Silent_p.I345I	NM_001163435	NP_001156908	Q8TEA7	TBCK_HUMAN	Homo sapiens TBC1 domain containing kinase (TBCK), transcript variant 1, mRNA.	345						intracellular	Rab GTPase activator activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	25						TGGATCGAATGATTTCCTTGT	0.358000														74			45		0	0	0.00361006	0	0
DDX60	55601	broad.mit.edu	37	4	169195106	169195106	+	Silent	SNP	G	A	A	rs138638907		TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr4:169195106G>A	uc003irp.3	-	16	2725	c.2433C>T	c.(2431-2433)gtC>gtT	p.V811V		NM_017631	NP_060101	Q8IY21	DDX60_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 60 (DDX60), mRNA.	811	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|RNA binding	p.V811V(3)		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)		CAACGTACACGACCACCCCGT	0.453000														57			32		0	0	0.00111076	0	0
MTHFD2L	441024	broad.mit.edu	37	4	75167443	75167443	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr4:75167443C>T	uc011cbk.2	+	7	988	c.961C>T	c.(961-963)Cca>Tca	p.P321S	MTHFD2L_uc003hhu.3_Non-coding_Transcript|BC016361_uc003hhv.1_Intron	NM_001144978	NP_001138450	Q9H903	MTD2L_HUMAN	Homo sapiens methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2-like (MTHFD2L), mRNA.	263					folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process		binding|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase (NAD+) activity			central_nervous_system(1)|endometrium(1)|lung(4)|ovary(2)	8			all cancers(17;0.0101)|Lung(101;0.196)			CTTTATCACTCCAGTTCCAGG	0.343000														41			21		0	0	0.00332997	0	0
GPR112	139378	broad.mit.edu	37	X	135429748	135429748	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chrX:135429748G>A	uc004ezu.1	+	5	4174	c.3883G>A	c.(3883-3885)Gaa>Aaa	p.E1295K	GPR112_uc010nsb.1_Missense_Mutation_p.E1090K|GPR112_uc010nsc.1_Missense_Mutation_p.E1062K	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA.	1295					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)					TCCATCTTTGGAAATGACAGA	0.433000														16			27		0	0	0.000878237	0	0
COL11A1	1301	broad.mit.edu	37	1	103352381	103352381	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:103352381G>A	uc001dum.3	-	62	5194	c.4876C>T	c.(4876-4878)Cat>Tat	p.H1626Y	COL11A1_uc001duk.3_Missense_Mutation_p.H810Y|COL11A1_uc001dul.3_Missense_Mutation_p.H1614Y|COL11A1_uc001dun.3_Missense_Mutation_p.H1575Y|COL11A1_uc009weh.3_Missense_Mutation_p.H1498Y	NM_080629	NP_542196	P12107	COBA1_HUMAN	Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript variant B, mRNA.	1614	Fibrillar collagen NC1.				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	p.H1626N(2)|p.H1614N(1)		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)		AAGTCAGGATGGCTGAGTTGC	0.438000														154			31		0	0	0.0024448	0	0
IQCA1	79781	broad.mit.edu	37	2	237246975	237246975	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:237246975C>T	uc002vwb.2	-	16	2065	c.2031G>A	c.(2029-2031)ctG>ctA	p.L677L	IQCA1_uc002vvz.1_Silent_p.L669L|IQCA1_uc002vwa.1_Non-coding_Transcript|IQCA1_uc010zni.1_Silent_p.L628L	NM_024726	NP_079002	Q86XH1	IQCA1_HUMAN	Homo sapiens IQ motif containing with AAA domain 1 (IQCA1), mRNA.	669							ATP binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						CATCTGGTTTCAGGAGTTTCA	0.413000														63			22		0	0	0.000878237	0	0
FGF13	2258	broad.mit.edu	37	X	137715134	137715134	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chrX:137715134C>T	uc004fam.3	-	4	1277	c.615G>A	c.(613-615)aaG>aaA	p.K205K	FGF13_uc004fan.3_Silent_p.K152K|FGF13_uc011mwi.2_Silent_p.K186K|FGF13_uc004faq.3_Silent_p.K215K|FGF13_uc004far.3_Silent_p.K186K|FGF13_uc011mwj.2_Silent_p.K215K|FGF13_uc011mwk.2_Silent_p.K159K	NM_004114	NP_004105	Q92913	FGF13_HUMAN	Homo sapiens fibroblast growth factor 13 (FGF13), transcript variant 1, mRNA.	205					MAPKKK cascade|cell-cell signaling|nervous system development	cytoplasm|nucleus	growth factor activity|protein kinase activator activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	24	Acute lymphoblastic leukemia(192;0.000127)					GTGATGGCTCCTTGTACATGG	0.478000														10			18		0	0	0.00121646	0	0
KIAA1704	55425	broad.mit.edu	37	13	45582997	45582997	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr13:45582997G>A	uc001uzq.3	+	3	494	c.391G>A	c.(391-393)Gat>Aat	p.D131N	KIAA1704_uc010tfo.1_Non-coding_Transcript|KIAA1704_uc001uzr.1_Missense_Mutation_p.D131N|KIAA1704_uc001uzs.3_5'UTR|KIAA1704_uc001uzt.3_5'UTR	NM_018559	NP_061029	Q8IXQ4	K1704_HUMAN	Homo sapiens KIAA1704 (KIAA1704), mRNA.	131										breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|pancreas(1)|prostate(2)|skin(1)	12		Lung NSC(96;0.00143)|Prostate(109;0.0137)|Breast(139;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.133)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000313)|BRCA - Breast invasive adenocarcinoma(63;0.126)		CAAGGGCAGAGATGATCCAGG	0.363000														29			11		0	0	0.00316338	0	0
ZAN	7455	broad.mit.edu	37	7	100350287	100350287	+	Silent	SNP	C	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:100350287C>A	uc003uwj.3	+	13	2724	c.2559C>A	c.(2557-2559)tcC>tcA	p.S853S	ZAN_uc003uwk.3_Silent_p.S853S|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.	853	66 X heptapeptide repeats (approximate) (mucin-like domain).				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CCACCATCTCCACAGAAAAAC	0.493000														69			30		4.65686e-17	1.47105e-16	0.00375469	1	0
IGFBP3	3486	broad.mit.edu	37	7	45954538	45954538	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:45954538G>A	uc003tnr.3	-	3	907	c.775C>T	c.(775-777)Cct>Tct	p.P259S	IGFBP3_uc003tnq.3_Non-coding_Transcript|IGFBP3_uc003tns.3_Missense_Mutation_p.P253S|IGFBP3_uc003tnt.3_Missense_Mutation_p.P156S	NM_001013398	NP_001013416	P17936	IBP3_HUMAN	Homo sapiens insulin-like growth factor binding protein 3 (IGFBP3), transcript variant 1, mRNA.	253	Thyroglobulin type-1.				negative regulation of protein phosphorylation|negative regulation of signal transduction|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|positive regulation of apoptosis|positive regulation of myoblast differentiation|protein phosphorylation|regulation of cell growth	nucleus	insulin-like growth factor I binding|metal ion binding|protein tyrosine phosphatase activator activity			large_intestine(6)|lung(7)|pancreas(1)|prostate(3)	17					Mecasermin(DB01277)	CCTTTGGAAGGGCGACACTGT	0.587000														29			20		0	0	0.00395357	0	0
C1orf173	127254	broad.mit.edu	37	1	75037470	75037470	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:75037470C>T	uc001dgg.3	-	13	4143	c.3924G>A	c.(3922-3924)gcG>gcA	p.A1308A		NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	1308	Glu-rich.							p.A1308V(1)		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						TGTCCTGCATCGCTTCTGTCT	0.542000														121			41		0	0	0.00285205	0	0
FAT3	120114	broad.mit.edu	37	11	92085510	92085510	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:92085510G>A	uc001pdj.4	+	0	249	c.232G>A	c.(232-234)Gat>Aat	p.D78N		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	78	Cadherin 1.				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)				TCTATCCTGGGATATCAAATA	0.413000										TCGA Ovarian(4;0.039)				215			173		0	0	0.00361006	0	0
DARC	2532	broad.mit.edu	37	1	159176211	159176211	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:159176211C>T	uc001ftp.4	+	0	1163	c.988C>T	c.(988-990)Cat>Tat	p.H330Y	DARC_uc001fto.3_Missense_Mutation_p.H328Y	NM_001122951	NP_001116423	Q16570	DUFFY_HUMAN	Homo sapiens Duffy blood group, chemokine receptor (DARC), transcript variant 1, mRNA.	328					defense response	integral to membrane|plasma membrane	C-C chemokine binding|chemokine receptor activity			large_intestine(2)|lung(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	8	all_hematologic(112;0.0429)					ATGGTCTTCTCATCTGGACAC	0.537000														186			73		0	0	0.00361006	0	0
LRRN1	57633	broad.mit.edu	37	3	3888296	3888296	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:3888296G>A	uc003bpt.4	+	1	2732	c.1971G>A	c.(1969-1971)aaG>aaA	p.K657K	SUMF1_uc003bps.2_Intron|LRRN1_uc021wsh.1_Silent_p.K657K	NM_020873	NP_065924	Q6UXK5	LRRN1_HUMAN	Homo sapiens leucine rich repeat neuronal 1 (LRRN1), mRNA.	657						integral to membrane				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		AAAGATTTAAGAGAAAAAACT	0.423000														20			16		0	0	0.000566183	0	0
SLC12A8	84561	broad.mit.edu	37	3	124896669	124896669	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:124896669G>A	uc003ehw.4	-	4	697	c.627C>T	c.(625-627)atC>atT	p.I209I	SLC12A8_uc003ehv.4_Silent_p.I180I|SLC12A8_uc010hrz.1_Silent_p.I45I	NM_024628	NP_078904	A0AV02	S12A8_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 8 (SLC12A8), transcript variant 1, mRNA.	180					potassium ion transport	integral to membrane	symporter activity			endometrium(2)|kidney(2)|lung(12)	16						GCTGGAGGCGGATTATCCATT	0.557000														34			10		0	0	0.00136819	0	0
TRBV7-3	28595	broad.mit.edu	37	7	142247385	142247385	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:142247385G>A	uc003vyd.4	-	1	96	c.71C>T	c.(70-72)tCc>tTc	p.S24F	TRBV5-1_uc011krr.1_Intron|BV13S6J2.1_uc011krx.2_Intron|BV13S6J2.1_uc011ksa.2_Intron					SubName: Full=V_segment translation product; Flags: Fragment;																		GGGGGTCTGGGAGACTCCAGC	0.478000														35			11		0	0	0.00136819	0	0
OMA1	115209	broad.mit.edu	37	1	59002382	59002382	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:59002382G>A	uc001cyy.3	-	2	620	c.532C>T	c.(532-534)Cct>Tct	p.P178S	DAB1_uc001cyt.1_Intron|OMA1_uc001cyx.1_Missense_Mutation_p.P178S|OMA1_uc009vzz.3_Missense_Mutation_p.P178S	NM_145243	NP_660286	Q96E52	OMA1_HUMAN	Homo sapiens OMA1 zinc metallopeptidase homolog (S. cerevisiae) (OMA1), mRNA.	178					proteolysis	integral to membrane|mitochondrial membrane	metal ion binding|metalloendopeptidase activity			NS(1)|breast(1)|large_intestine(6)|liver(2)|lung(6)|prostate(1)|skin(1)	18	all_cancers(7;6.54e-05)					TTCTTGTTAGGAGGAAGTGCC	0.348000														106			30		0	0	0.00327116	0	0
CBX7	23492	broad.mit.edu	37	22	39530027	39530028	+	Missense_Mutation	DNP	GG	AA	AA	rs148637787		TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr22:39530027_39530028GG>AA	uc003axb.3	-	5	713_714	c.624_625CC>TT	c.(622-627)ccccct>ccTTct	p.P209S	CBX7_uc003axc.3_Missense_Mutation_p.P116S	NM_175709	NP_783640	O95931	CBX7_HUMAN	Homo sapiens chromobox homolog 7 (CBX7), mRNA.	209					chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	PcG protein complex|nuclear chromatin		p.P208A(1)		endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7	Melanoma(58;0.04)					GTCCAGGGAGGGGGCCCCTCGG	0.663000														52			20		0	0	6.4e-05	0	0
PNMA5	114824	broad.mit.edu	37	X	152159968	152159968	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chrX:152159968C>T	uc022chn.1	-	0	175	c.175G>A	c.(175-177)Gaa>Aaa	p.E59K	PNMA5_uc010ntx.3_Missense_Mutation_p.E59K|PNMA5_uc010ntw.3_Missense_Mutation_p.E59K|PNMA5_uc004fgy.4_Missense_Mutation_p.E59K|PNMA5_uc022chm.1_Missense_Mutation_p.E59K	NM_052926	NP_443158	Q96PV4	PNMA5_HUMAN	Homo sapiens paraneoplastic antigen like 5 (PNMA5), transcript variant 3, mRNA.	59					apoptosis					breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					gcattgtcttccctcctgaac	0.527000														15			44		0	0	0.0025221	0	0
CACNA1C	775	broad.mit.edu	37	12	2714944	2714944	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:2714944C>T	uc009zdu.1	+	24	3521	c.3208C>T	c.(3208-3210)Ctc>Ttc	p.L1070F	CACNA1C_uc001qkc.2_Missense_Mutation_p.L1050F|CACNA1C_uc001qjz.2_Missense_Mutation_p.L1050F|CACNA1C_uc001qkd.2_Missense_Mutation_p.L1050F|CACNA1C_uc001qke.2_Missense_Mutation_p.L1050F|CACNA1C_uc001qkf.2_Missense_Mutation_p.L1050F|CACNA1C_uc009zdw.1_Missense_Mutation_p.L1050F|CACNA1C_uc001qkg.2_Missense_Mutation_p.L1050F|CACNA1C_uc001qkh.2_Missense_Mutation_p.L1050F|CACNA1C_uc001qkl.2_Missense_Mutation_p.L1070F|CACNA1C_uc001qkj.2_Missense_Mutation_p.L1050F|CACNA1C_uc001qkk.2_Missense_Mutation_p.L1050F|CACNA1C_uc001qkn.2_Missense_Mutation_p.L1050F|CACNA1C_uc001qkm.2_Missense_Mutation_p.L1050F|CACNA1C_uc001qko.2_Missense_Mutation_p.L1070F|CACNA1C_uc001qkp.2_Missense_Mutation_p.L1050F|CACNA1C_uc001qkq.2_Missense_Mutation_p.L1050F|CACNA1C_uc001qku.2_Missense_Mutation_p.L1050F|CACNA1C_uc001qkr.2_Missense_Mutation_p.L1050F|CACNA1C_uc001qks.2_Missense_Mutation_p.L1050F|CACNA1C_uc001qkt.2_Missense_Mutation_p.L1050F|CACNA1C_uc009zdv.1_Missense_Mutation_p.L1047F|CACNA1C_uc001qkb.2_Missense_Mutation_p.L1050F|CACNA1C_uc001qka.1_Missense_Mutation_p.L585F|CACNA1C_uc001qki.1_Missense_Mutation_p.L786F	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA.	1070					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)	CGGGGTCCAGCTCTTCAAGGT	0.547000														27			6		0	0	0.00116845	0	0
FAM126B	285172	broad.mit.edu	37	2	201846103	201846103	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:201846103C>T	uc002uws.4	-	11	1671	c.1483G>A	c.(1483-1485)Gac>Aac	p.D495N	FAM126B_uc002uwu.3_Missense_Mutation_p.D469N|FAM126B_uc002uwv.3_Missense_Mutation_p.D495N	NM_173822	NP_776183	Q8IXS8	F126B_HUMAN	Homo sapiens family with sequence similarity 126, member B (FAM126B), mRNA.	495						intracellular				endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						CCTAGCCGGTCTTCCTGCAGA	0.512000														25			12		0	0	0.000978159	0	0
ENPEP	2028	broad.mit.edu	37	4	111470877	111470877	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr4:111470877C>T	uc003iab.4	+	16	2678	c.2336C>T	c.(2335-2337)cCc>cTc	p.P779L		NM_001977	NP_001968	Q07075	AMPE_HUMAN	Homo sapiens glutamyl aminopeptidase (aminopeptidase A) (ENPEP), mRNA.	779					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	TCTAGCCTTCCCGTAAATCTC	0.398000														49			22		0	0	0.00395357	0	0
UBXN7	26043	broad.mit.edu	37	3	196096312	196096312	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:196096312G>A	uc003fwm.4	-	6	761	c.686C>T	c.(685-687)tCc>tTc	p.S229F	UBXN7_uc003fwn.4_Missense_Mutation_p.S81F|UBXN7_uc010iae.3_Missense_Mutation_p.S67F	NM_015562	NP_056377	O94888	UBXN7_HUMAN	Homo sapiens UBX domain protein 7 (UBXN7), mRNA.	229							protein binding	p.S229S(1)		NS(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						GTCCAATATGGAAACATAGGG	0.333000														43			13		0	0	0.00316338	0	0
TTC16	158248	broad.mit.edu	37	9	130482669	130482669	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr9:130482669C>T	uc004brq.1	+	5	719	c.652C>T	c.(652-654)Cag>Tag	p.Q218*	PTRH1_uc011mah.2_Intron|TTC16_uc011mai.1_Nonsense_Mutation_p.Q205*|TTC16_uc004brr.1_Nonsense_Mutation_p.Q163*|TTC16_uc010mxn.1_5'UTR	NM_144965	NP_659402	Q8NEE8	TTC16_HUMAN	Homo sapiens tetratricopeptide repeat domain 16 (TTC16), mRNA.	218							binding			central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1)	22						CAACTTTCTCCAGAAGGTACA	0.612000														44			44		0	0	0.00361006	0	0
KIAA0754	643314	broad.mit.edu	37	1	39879626	39879626	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:39879626C>T	uc009vvt.1	+	0	4451	c.3689C>T	c.(3688-3690)tCc>tTc	p.S1230F	MACF1_uc021ols.1_Intron|MACF1_uc001cdc.2_Intron|MACF1_uc021olt.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc021olw.1_Intron	NM_015038	NP_055853	O94854	K0754_HUMAN	Homo sapiens KIAA0754 (KIAA0754), mRNA.	1094										central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GAGCCTGCCTCCCTAGCAGCT	0.647000														10			3		0	0	6.4e-05	0	0
LRRC46	90506	broad.mit.edu	37	17	45914246	45914246	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr17:45914246G>A	uc002ima.3	+	7	1089	c.726G>A	c.(724-726)gtG>gtA	p.V242V	LRRC46_uc002imb.3_Silent_p.V195V	NM_033413	NP_219481	Q96FV0	LRC46_HUMAN	Homo sapiens leucine rich repeat containing 46 (LRRC46), mRNA.	242										endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)	9						TACCTGGGGTGCCCATGGCTG	0.672000														52			16		0	0	0.00188189	0	0
ERC2	26059	broad.mit.edu	37	3	56044485	56044485	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:56044485C>T	uc021wzo.1	-	7	2052	c.1912G>A	c.(1912-1914)Gag>Aag	p.E638K	ERC2_uc003dhr.1_Missense_Mutation_p.E638K|ERC2_uc003dht.1_Missense_Mutation_p.E109K	NM_015576	NP_056391	O15083	ERC2_HUMAN	Homo sapiens ELKS/RAB6-interacting/CAST family member 2 (ERC2), mRNA.	638						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)		ACCTCTTTCTCAGTCAGTTCA	0.408000														38			31		0	0	0.00327116	0	0
ZNF16	7564	broad.mit.edu	37	8	146157923	146157923	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr8:146157923C>T	uc003zet.3	-	3	437	c.250G>A	c.(250-252)Gaa>Aaa	p.E84K	ZNF16_uc003zeu.3_Missense_Mutation_p.E84K	NM_001029976	NP_008889	P17020	ZNF16_HUMAN	Homo sapiens zinc finger protein 16 (ZNF16), transcript variant 2, mRNA.	84					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E84K(2)		breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|lung(9)|ovary(5)|prostate(1)|skin(1)|urinary_tract(1)	29	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.136)	Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486)		TCCAAATCTTCATGAATGTCT	0.423000														50			27		0	0	0.000878237	0	0
PLCH1	23007	broad.mit.edu	37	3	155303856	155303856	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:155303856G>A	uc021xge.1	-	3	839	c.562C>T	c.(562-564)Cag>Tag	p.Q188*	PLCH1_uc021xgd.1_Nonsense_Mutation_p.Q188*|PLCH1_uc021xgf.1_Nonsense_Mutation_p.Q170*	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	Homo sapiens phospholipase C, eta 1 (PLCH1), transcript variant 1, mRNA.	188	EF-hand 2.				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			AAACTTACCTGAAACATTTGT	0.333000														73			27		0	0	0.00127121	0	0
GRIK3	2899	broad.mit.edu	37	1	37307518	37307518	+	Missense_Mutation	SNP	C	T	T	rs115314874	by1000genomes	TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:37307518C>T	uc001caz.2	-	9	1484	c.1349G>A	c.(1348-1350)cGg>cAg	p.R450Q	GRIK3_uc001cba.1_Missense_Mutation_p.R450Q	NM_000831	NP_000822	Q13003	GRIK3_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 3 (GRIK3), mRNA.	450					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	G-protein-coupled receptor binding|adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	p.R450W(2)		breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	GTCTGATTTCCGAAACATGAC	0.572000														80			61		0	0	0.00361006	0	0
ADCY8	114	broad.mit.edu	37	8	131916162	131916162	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr8:131916162C>T	uc003ytd.4	-	6	2023	c.1767G>A	c.(1765-1767)caG>caA	p.Q589Q	ADCY8_uc010mds.3_Silent_p.Q589Q	NM_001115	NP_001106	P40145	ADCY8_HUMAN	Homo sapiens adenylate cyclase 8 (brain) (ADCY8), mRNA.	589					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			TGTCCTCAGGCTGCTTAATTA	0.478000										HNSCC(32;0.087)				80			32		0	0	0.00178596	0	0
MAGEA5	4104	broad.mit.edu	37	X	151283782	151283782	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chrX:151283782G>A	uc004ffj.3	-	2	403	c.231C>T	c.(229-231)ttC>ttT	p.F77F	MAGEA5_uc022cgy.1_Silent_p.F77F	NM_021049	NP_066387	P43359	MAGA5_HUMAN	Homo sapiens melanoma antigen family A, 5 (MAGEA5), mRNA.	77	MAGE.							p.D76N(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6	Acute lymphoblastic leukemia(192;6.56e-05)					TCCATAGAGTGAAATCGATGG	0.607000														18			27		0	0	0.000878237	0	0
ZNF705B	100132396	broad.mit.edu	37	8	7806666	7806666	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr8:7806666G>A	uc010lro.1	+	3	310	c.28G>A	c.(28-30)Gaa>Aaa	p.E10K		NM_001193630	NP_001180559	P0CI00	Z705L_HUMAN	Homo sapiens zinc finger protein 705D-like (LOC100132396), mRNA.	10	KRAB.				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			kidney(2)|lung(2)	4						AGTGACTTTTGAAGATGTAGC	0.408000														75			41		0	0	0.00361006	0	0
SSTR5	6755	broad.mit.edu	37	16	1129186	1129186	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr16:1129186C>T	uc021taf.1	+	1	389	c.318C>T	c.(316-318)ccC>ccT	p.P106P	LOC146336_uc002cko.3_5'Flank|LOC146336_uc002ckp.1_5'Flank|SSTR5_uc002ckq.3_Silent_p.P106P	NM_001172560	NP_001166031	P35346	SSR5_HUMAN	Homo sapiens somatostatin receptor 5 (SSTR5), transcript variant 2, mRNA.	106					negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity			endometrium(2)|lung(5)|prostate(1)|skin(1)	9		Hepatocellular(780;0.00369)			Octreotide(DB00104)	CCTTCTGGCCCTTCGGCCCCG	0.627000														24			16		0	0	0.000958276	0	0
HOXB1	3211	broad.mit.edu	37	17	46608054	46608054	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr17:46608054G>A	uc002ink.1	-	0	219	c.213C>T	c.(211-213)acC>acT	p.T71T	HOXB1_uc021tzf.1_Silent_p.T71T	NM_002144	NP_002135	P14653	HXB1_HUMAN	Homo sapiens homeobox B1 (HOXB1), mRNA.	71			T -> N (in dbSNP:rs35254561).			nucleus	protein domain specific binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						GCACCCCCAGGGTCGAAGGCG	0.677000														22			24		0	0	0.00395357	0	0
ATAD2B	54454	broad.mit.edu	37	2	23977110	23977110	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:23977110G>A	uc002rek.4	-	26	4570	c.4274C>T	c.(4273-4275)tCt>tTt	p.S1425F	ATAD2B_uc002rei.4_Missense_Mutation_p.S1420F|ATAD2B_uc010yki.2_Non-coding_Transcript|ATAD2B_uc002rej.4_Missense_Mutation_p.S593F	NM_017552	NP_060022	Q9ULI0	ATD2B_HUMAN	Homo sapiens ATPase family, AAA domain containing 2B (ATAD2B), transcript variant 1, mRNA.	1425							ATP binding|nucleoside-triphosphatase activity			central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACTAAGAAGAGAATATAATCT	0.308000														4			8		0	0	0.000442599	0	0
NEIL2	252969	broad.mit.edu	37	8	11637335	11637335	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr8:11637335C>T	uc003wug.2	+	2	1042	c.367C>T	c.(367-369)Cct>Tct	p.P123S	NEIL2_uc003wue.2_Missense_Mutation_p.P123S|NEIL2_uc003wuf.2_Missense_Mutation_p.P62S|NEIL2_uc011kxd.1_Intron	NM_145043	NP_001129219	Q969S2	NEIL2_HUMAN	Homo sapiens nei endonuclease VIII-like 2 (E. coli) (NEIL2), transcript variant 1, mRNA.	123					base-excision repair|nucleotide-excision repair	nucleus	DNA-(apurinic or apyrimidinic site) lyase activity|damaged DNA binding|hydrolase activity, hydrolyzing N-glycosyl compounds|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10	all_epithelial(15;0.103)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.166)		GAGAGACGCCCCTGCAGGAGA	0.587000								Base excision repair (BER), DNA glycosylases						47			15		0	0	0.00400662	0	0
SPOCD1	90853	broad.mit.edu	37	1	32259468	32259468	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:32259468G>A	uc001bts.1	-	11	2472	c.2414C>T	c.(2413-2415)tCc>tTc	p.S805F	SPOCD1_uc001btr.1_5'Flank|SPOCD1_uc001btu.3_Missense_Mutation_p.S805F|SPOCD1_uc001btv.3_Missense_Mutation_p.S298F|SPOCD1_uc021oks.1_Missense_Mutation_p.S110F	NM_144569	NP_653170	Q6ZMY3	SPOC1_HUMAN	Homo sapiens SPOC domain containing 1 (SPOCD1), mRNA.	805					transcription, DNA-dependent					NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		GGCTTCGAAGGAGCCTAGCAG	0.572000														98			62		0	0	0.00361006	0	0
GABRA4	2557	broad.mit.edu	37	4	46930372	46930372	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr4:46930372C>T	uc003gxg.3	-	8	2518	c.1535G>A	c.(1534-1536)gGa>gAa	p.G512E	GABRA4_uc021xnz.1_Missense_Mutation_p.G493E|GABRA4_uc021xoa.1_Missense_Mutation_p.G442E	NM_000809	NP_000800	P48169	GBRA4_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 4 (GABRA4), transcript variant 1, mRNA.	512					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TGTGCCAGATCCAGAAGGTGG	0.433000														93			39		0	0	0.00321405	0	0
FAAH2	158584	broad.mit.edu	37	X	57473399	57473399	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chrX:57473399G>A	uc004dvc.3	+	8	1304	c.1155G>A	c.(1153-1155)ggG>ggA	p.G385G		NM_174912	NP_777572	Q6GMR7	FAAH2_HUMAN	Homo sapiens fatty acid amide hydrolase 2 (FAAH2), mRNA.	385						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						GTGACCATGGGAAACATGTCA	0.393000										HNSCC(52;0.14)				6			16		0	0	0.00400662	0	0
FGL2	10875	broad.mit.edu	37	7	76828852	76828852	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:76828852C>T	uc003ugb.3	-	0	299	c.259G>A	c.(259-261)Gaa>Aaa	p.E87K	CCDC146_uc003ufz.1_Intron|CCDC146_uc003uga.3_Intron	NM_006682	NP_006673	Q14314	FGL2_HUMAN	Homo sapiens fibrinogen-like 2 (FGL2), mRNA.	87					signal transduction	fibrinogen complex	receptor binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	13						TTTACGATTTCCTTGAGGTTT	0.507000														51			18		0	0	0.000958276	0	0
CENPQ	55166	broad.mit.edu	37	6	49459879	49459879	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:49459879C>T	uc003ozh.1	+	8	787	c.698C>T	c.(697-699)cCa>cTa	p.P233L		NM_018132	NP_060602	Q7L2Z9	CENPQ_HUMAN	Homo sapiens centromere protein Q (CENPQ), mRNA.	233					CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	chromosome, centromeric region|cytosol|nucleoplasm				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(4)|ovary(2)|prostate(1)	11	Lung NSC(77;0.0128)					GCGCTAATTCCAAACCAGAAT	0.328000														29			13		0	0	0.00400662	0	0
KCNA6	3742	broad.mit.edu	37	12	4919936	4919936	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:4919936G>A	uc001qng.3	+	0	1595	c.729G>A	c.(727-729)atG>atA	p.M243I	KCNA6_uc021qtr.1_Missense_Mutation_p.M243I	NM_002235	NP_002226	P17658	KCNA6_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 6 (KCNA6), mRNA.	243						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49						CTGGGGAAATGGGGACCGGGG	0.547000										HNSCC(72;0.22)				51			27		0	0	0.00178596	0	0
MRGPRE	116534	broad.mit.edu	37	11	3249748	3249748	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:3249748G>A	uc021qcj.1	-	0	279	c.279C>T	c.(277-279)ttC>ttT	p.F93F	MRGPRE_uc001lxq.4_Silent_p.F93F	NM_001039165	NP_001034254	Q86SM8	MRGRE_HUMAN	Homo sapiens MAS-related GPR, member E (MRGPRE), mRNA.	93						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	19		Medulloblastoma(188;0.00106)|all_epithelial(84;0.00111)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00529)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGGTCTGCACGAAGCCCGGGA	0.662000														29			7		0	0	0.00307968	0	0
ACOT11	26027	broad.mit.edu	37	1	55063089	55063089	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:55063089G>A	uc001cxm.2	+	7	940	c.764_splice	c.e7+1	p.S255_splice	ACOT11_uc001cxj.2_Splice_Site_p.S133_splice|ACOT11_uc001cxk.3_Silent_p.R221R|ACOT11_uc001cxl.2_Splice_Site_p.S255_splice	NM_015547	NP_056362	Q8WXI4	ACO11_HUMAN	Homo sapiens acyl-CoA thioesterase 11 (ACOT11), transcript variant 1, mRNA.	255	Acyl coenzyme A hydrolase 2.			S -> R (in Ref. 7; AAH01517).	fatty acid metabolic process|intracellular signal transduction|response to cold		acyl-CoA thioesterase activity|carboxylesterase activity			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(3)|lung(5)|ovary(1)	17						TTGCAGCCAGGTGAGGGCAGG	0.632000														8			4		0	0	0.000602214	0	0
RDH5	5959	broad.mit.edu	37	12	56117672	56117672	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:56117672G>T	uc001shk.3	+	3	755	c.572G>T	c.(571-573)cGg>cTg	p.R191L	RDH5_uc021qyt.1_Missense_Mutation_p.R54L|RDH5_uc001shl.3_Missense_Mutation_p.R191L	NM_002905	NP_002896	Q92781	RDH1_HUMAN	Homo sapiens retinol dehydrogenase 5 (11-cis/9-cis) (RDH5), transcript variant 2, mRNA.	191					response to stimulus|visual perception	membrane	binding|retinol dehydrogenase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|skin(1)	12					NADH(DB00157)|Vitamin A(DB00162)	GACTCTAGGCGGGATGTAGCT	0.567000														51			6		0.00307968	0.00956451	0.00307968	1	0
MLF1	4291	broad.mit.edu	37	3	158310243	158310243	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:158310243G>A	uc003fcc.3	+	2	479	c.116G>A	c.(115-117)cGa>cAa	p.R39Q	MLF1_uc003fbx.3_5'UTR|MLF1_uc003fbz.3_5'UTR|MLF1_uc003fca.3_5'UTR|MLF1_uc003fcb.3_Missense_Mutation_p.R23Q|MLF1_uc010hvx.3_5'UTR|MLF1_uc003fby.3_5'UTR	NM_001195432	NP_001182361	P58340	MLF1_HUMAN	Homo sapiens myeloid leukemia factor 1 (MLF1), transcript variant 4, mRNA.	23					cell cycle arrest|myeloid progenitor cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein domain specific binding			large_intestine(3)	3		Melanoma(1037;0.000458)|Prostate(884;0.0235)|all_neural(597;0.0299)	Lung(72;0.00199)|LUSC - Lung squamous cell carcinoma(72;0.00256)			CTTGCACACCGAGAAAATATG	0.363000			T	NPM1	AML									38			14		0	0	0.000958276	0	0
UNC45B	146862	broad.mit.edu	37	17	33477204	33477204	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr17:33477204G>A	uc002hja.3	+	3	440	c.343G>A	c.(343-345)Gag>Aag	p.E115K	UNC45B_uc002hjb.3_Missense_Mutation_p.E115K|UNC45B_uc002hjc.3_Missense_Mutation_p.E115K|UNC45B_uc010cto.3_Missense_Mutation_p.E115K	NM_173167	NP_775259	Q8IWX7	UN45B_HUMAN	Homo sapiens unc-45 homolog B (C. elegans) (UNC45B), transcript variant 1, mRNA.	115					cell differentiation|muscle organ development	cytosol	binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				GAACTTCCAGGAGATGCTGAG	0.597000														73			27		0	0	0.00209593	0	0
TAS2R14	50840	broad.mit.edu	37	12	11091063	11091063	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:11091063G>A	uc010shi.2	-	0	744	c.744C>T	c.(742-744)ttC>ttT	p.F248F	PRH1_uc001qzb.4_Intron|TAS2R14_uc021qve.1_Intron|PRH1_uc021qvg.1_Intron|PRB4_uc001qzf.1_Intron|TAS2R14_uc001qzj.3_Non-coding_Transcript	NM_023922	NP_076411	Q9NYV8	T2R14_HUMAN	Homo sapiens taste receptor, type 2, member 14 (TAS2R14), mRNA.	248					detection of chemical stimulus involved in sensory perception of bitter taste		bitter taste receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	8						AAACTGATATGAAAAAAGACA	0.418000														55			30		0	0	0.00209593	0	0
ESYT1	23344	broad.mit.edu	37	12	56527655	56527655	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:56527655C>T	uc001sjr.3	+	12	1589	c.1471C>T	c.(1471-1473)Cct>Tct	p.P491S	ESYT1_uc001sjq.3_Missense_Mutation_p.P491S	NM_001184796	NP_001171725	Q9BSJ8	ESYT1_HUMAN	Homo sapiens extended synaptotagmin-like protein 1 (ESYT1), transcript variant 1, mRNA.	491	C2 2.					integral to membrane				breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						CCAGGATCTTCCTGTGAGTTT	0.562000														49			27		0	0	0.00209593	0	0
YTHDC2	64848	broad.mit.edu	37	5	112888986	112888986	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:112888986C>T	uc003kqn.3	+	12	1999	c.1797C>T	c.(1795-1797)ttC>ttT	p.F599F	YTHDC2_uc010jce.2_Silent_p.F599F|YTHDC2_uc010jcf.2_Silent_p.F299F	NM_022828	NP_073739	Q9H6S0	YTDC2_HUMAN	Homo sapiens YTH domain containing 2 (YTHDC2), mRNA.	599							ATP binding|ATP-dependent helicase activity|nucleic acid binding	p.S598T(1)		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)		ATCATAGTTTCGATGATGAAA	0.378000														36			9		0	0	0.000442599	0	0
PIGV	55650	broad.mit.edu	37	1	27121059	27121059	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:27121059C>T	uc001bmz.3	+	2	897	c.534C>T	c.(532-534)ttC>ttT	p.F178F	PIGV_uc001bna.3_Silent_p.F178F|PIGV_uc010ofg.2_Intron	NM_017837	NP_060307	Q9NUD9	PIGV_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class V (PIGV), transcript variant 2, mRNA.	178					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	glycolipid mannosyltransferase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)	14		all_cancers(24;3.93e-26)|all_epithelial(13;3.96e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.26e-54)|Epithelial(14;2.85e-53)|OV - Ovarian serous cystadenocarcinoma(117;1.91e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000504)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.0222)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.153)|LUSC - Lung squamous cell carcinoma(448;0.227)		TCCTGACATTCAGTGCCATGG	0.562000														61			21		0	0	0.00188189	0	0
PHC3	80012	broad.mit.edu	37	3	169846476	169846476	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:169846476G>A	uc003fgl.2	-	7	1818	c.1784C>T	c.(1783-1785)cCa>cTa	p.P595L	PHC3_uc010hws.1_Missense_Mutation_p.P583L|PHC3_uc011bpq.1_Missense_Mutation_p.P542L|PHC3_uc011bpr.1_Missense_Mutation_p.P509L	NM_024947	NP_079223	Q8NDX5	PHC3_HUMAN	Homo sapiens polyhomeotic homolog 3 (Drosophila) (PHC3), mRNA.	583	Pro-rich.				multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2)	26	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			GCTTACCACTGGTGGATCAAC	0.448000														19			20		0	0	0.00188189	0	0
GLT25D2	23127	broad.mit.edu	37	1	183909790	183909790	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:183909790A>G	uc001gqr.3	-	10	1901	c.1529T>C	c.(1528-1530)cTg>cCg	p.L510P	GLT25D2_uc010poj.1_Missense_Mutation_p.L510P|GLT25D2_uc001gqp.3_Missense_Mutation_p.L118P|GLT25D2_uc001gqq.3_Missense_Mutation_p.L247P|GLT25D2_uc001gqs.3_Missense_Mutation_p.L390P	NM_015101	NP_055916	Q8IYK4	GT252_HUMAN	Homo sapiens glycosyltransferase 25 domain containing 2 (GLT25D2), mRNA.	510					lipopolysaccharide biosynthetic process	endoplasmic reticulum lumen	procollagen galactosyltransferase activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|skin(2)	31						GGCTCCAACCAGCTTCTGTGC	0.542000														66			29		0	0	0.00127121	0	0
STYK1	55359	broad.mit.edu	37	12	10774522	10774522	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:10774522G>A	uc001qys.2	-	9	1538	c.1017C>T	c.(1015-1017)ctC>ctT	p.L339L		NM_018423	NP_060893	Q6J9G0	STYK1_HUMAN	Homo sapiens serine/threonine/tyrosine kinase 1 (STYK1), mRNA.	339	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						TCCTTCTTTGGAGATGCTCTA	0.428000										HNSCC(73;0.22)				72			47		0	0	0.00361006	0	0
IKZF1	10320	broad.mit.edu	37	7	50444268	50444268	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:50444268G>A	uc003tow.4	+	3	353	c.198G>A	c.(196-198)gaG>gaA	p.E66E	IKZF1_uc022acq.1_Silent_p.E66E|IKZF1_uc003tpa.4_Intron|IKZF1_uc022acr.1_Intron|IKZF1_uc022acs.1_Intron|IKZF1_uc022act.1_Intron|IKZF1_uc022acu.1_Intron|IKZF1_uc003tox.4_Silent_p.E66E|IKZF1_uc022acv.1_Intron|IKZF1_uc022acw.1_Intron|IKZF1_uc022acx.1_Silent_p.E66E|IKZF1_uc022acy.1_Intron|IKZF1_uc022acz.1_Intron|IKZF1_uc011kck.2_Intron|IKZF1_uc003toy.4_Silent_p.E66E|IKZF1_uc003toz.4_Silent_p.E36E|IKZF1_uc010kyx.3_Intron	NM_006060	NP_006051	Q13422	IKZF1_HUMAN	Homo sapiens IKAROS family zinc finger 1 (Ikaros) (IKZF1), transcript variant 1, mRNA.	66					cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	p.?(131)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				GTGATGAAGAGAATGGGCGTG	0.443000			"""D,T"""	BCL6	"""ALL, DLBCL"""									72			27		0	0	0.00106085	0	0
SLC44A5	204962	broad.mit.edu	37	1	75805292	75805292	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:75805292C>T	uc010oqz.1	-	2	259	c.193G>A	c.(193-195)Gat>Aat	p.D65N	SLC44A5_uc001dgt.2_Missense_Mutation_p.D26N|SLC44A5_uc001dgs.2_5'UTR|SLC44A5_uc001dgr.2_5'UTR|SLC44A5_uc001dgu.3_Missense_Mutation_p.D26N|SLC44A5_uc010ora.2_Missense_Mutation_p.D20N|SLC44A5_uc010orb.2_5'UTR	NM_001130058	NP_001123530	Q8NCS7	CTL5_HUMAN	Homo sapiens solute carrier family 44, member 5 (SLC44A5), transcript variant 2, mRNA.	26						integral to membrane|plasma membrane	choline transmembrane transporter activity			kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						CCCTTGAAATCTGGGTCATAT	0.348000														242			226		0	0	0.00361006	0	0
GARNL3	84253	broad.mit.edu	37	9	130098439	130098439	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr9:130098439C>T	uc011mae.2	+	10	1307	c.906C>T	c.(904-906)atC>atT	p.I302I	GARNL3_uc011mad.2_Silent_p.I280I|GARNL3_uc004bqt.1_Silent_p.I83I	NM_032293	NP_115669	Q5VVW2	GARL3_HUMAN	Homo sapiens GTPase activating Rap/RanGAP domain-like 3 (GARNL3), mRNA.	302	Rap-GAP.				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity|small GTPase regulator activity	p.S302S(1)|p.I284I(1)		NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(24)|ovary(1)|skin(1)|urinary_tract(2)	41						GAAACGATATCGTCACCATTG	0.433000														39			36		0	0	0.00195071	0	0
PTPRB	5787	broad.mit.edu	37	12	70946612	70946612	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:70946612C>T	uc001swb.4	-	18	4708	c.4678G>A	c.(4678-4680)Gat>Aat	p.D1560N	PTPRB_uc010sto.2_Missense_Mutation_p.D1470N|PTPRB_uc010stp.2_Missense_Mutation_p.D1470N|PTPRB_uc001swc.4_Missense_Mutation_p.D1778N|PTPRB_uc001swa.4_Missense_Mutation_p.D1690N	NM_002837	NP_002828	P23467	PTPRB_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA.	1560					angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			TGAGTGGGATCGCATTTTCCA	0.423000														36			14		0	0	0.00185496	0	0
TSHZ1	10194	broad.mit.edu	37	18	72997752	72997752	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr18:72997752C>T	uc002lly.3	+	1	818	c.255C>T	c.(253-255)tcC>tcT	p.S85S	TSHZ1_uc021uln.1_Silent_p.S85S	NM_005786	NP_005777	Q6ZSZ6	TSH1_HUMAN	Homo sapiens teashirt zinc finger homeobox 1 (TSHZ1), mRNA.	130	Ser-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		CCTGCTGGTCCAGCTTAGCTC	0.602000														31			8		0	0	0.00307968	0	0
BRAT1	221927	broad.mit.edu	37	7	2583225	2583225	+	Splice_Site	SNP	G	A	A	rs145047426		TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:2583225G>A	uc003smi.3	-	5	1091	c.803_splice	c.e5+1	p.R268_splice	BRAT1_uc003smh.4_5'Flank|BRAT1_uc021zyz.1_Missense_Mutation_p.R93W|BRAT1_uc003smj.2_Missense_Mutation_p.R268W	NM_152743	NP_689956	Q6PJG6	BRAT1_HUMAN	Homo sapiens BRCA1-associated ATM activator 1 (BRAT1), mRNA.	268					response to ionizing radiation	nucleus	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23						GGCCCTGACCGAGCCACACAG	0.677000														41			12		0	0	0.00316338	0	0
CDK5RAP2	55755	broad.mit.edu	37	9	123301373	123301373	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr9:123301373C>T	uc004bkf.3	-	5	634	c.453G>A	c.(451-453)aaG>aaA	p.K151K	CDK5RAP2_uc004bkg.3_Silent_p.K151K|CDK5RAP2_uc011lxw.2_5'UTR|CDK5RAP2_uc011lxx.2_Non-coding_Transcript|CDK5RAP2_uc011lxy.2_Non-coding_Transcript|CDK5RAP2_uc011lxz.2_5'UTR|CDK5RAP2_uc011lya.2_5'UTR|CDK5RAP2_uc004bkh.1_Silent_p.K151K|CDK5RAP2_uc004bki.3_5'Flank	NM_018249	NP_060719	Q96SN8	CK5P2_HUMAN	Homo sapiens CDK5 regulatory subunit associated protein 2 (CDK5RAP2), transcript variant 1, mRNA.	151					G2/M transition of mitotic cell cycle|brain development|centrosome organization|chromosome segregation|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	Golgi apparatus|cytosol|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						GCTGCACCTTCTTTCGAGCAT	0.458000														167			52		0	0	0.00361006	0	0
ODZ1	10178	broad.mit.edu	37	X	123539077	123539077	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chrX:123539077G>A	uc010nqy.3	-	26	5259	c.5195C>T	c.(5194-5196)tCc>tTc	p.S1732F	ODZ1_uc011muj.2_Missense_Mutation_p.S1731F|ODZ1_uc004euj.3_Missense_Mutation_p.S1725F	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA.	1725					immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			NS(4)|breast(7)|cervix(3)|endometrium(23)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(36)|liver(1)|lung(93)|ovary(13)|pancreas(3)|prostate(2)|skin(10)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	212						GACACGCAGGGAACCATCTGG	0.537000														10			23		0	0	0.00278032	0	0
FRY	10129	broad.mit.edu	37	13	32802675	32802675	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr13:32802675C>T	uc001utx.3	+	39	5785	c.5289C>T	c.(5287-5289)atC>atT	p.I1763I	FRY_uc010tdw.2_Non-coding_Transcript	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	Homo sapiens furry homolog (Drosophila) (FRY), mRNA.	1763					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		CCTCTAGCATCAGTCTGGGAG	0.542000														82			35		0	0	0.00283554	0	0
STXBP5L	9515	broad.mit.edu	37	3	121097680	121097680	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:121097680G>A	uc003eec.4	+	21	2506	c.2366G>A	c.(2365-2367)cGa>cAa	p.R789Q	STXBP5L_uc011bji.2_Missense_Mutation_p.R765Q	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN	Homo sapiens syntaxin binding protein 5-like (STXBP5L), mRNA.	789					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane		p.R789*(1)		NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		CCACCATTTCGAAAGGCCCAG	0.398000														31			10		0	0	0.00136819	0	0
ERICH1	157697	broad.mit.edu	37	8	614674	614675	+	Splice_Site	DNP	GG	AA	AA			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr8:614674_614675GG>AA	uc003wph.3	-	6	1324	c.1259_splice	c.e6-1	p.D420_splice		NM_207332	NP_997215	Q86X53	ERIC1_HUMAN	Homo sapiens glutamate-rich 1 (ERICH1), mRNA.	420										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)	20		Colorectal(14;0.158)|Ovarian(12;0.17)|Myeloproliferative disorder(644;0.185)|Hepatocellular(245;0.236)		Epithelial(5;3.29e-14)|BRCA - Breast invasive adenocarcinoma(11;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(5;3.65e-06)|READ - Rectum adenocarcinoma(1;0.0325)		ACTCTGGCATGGTCTAGAAAGC	0.347000														77			24		0	0	6.4e-05	0	0
C16orf92	146378	broad.mit.edu	37	16	30035385	30035385	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr16:30035385C>A	uc002dvr.2	+	2	296	c.289C>A	c.(289-291)Ctt>Att	p.L97I	BOLA2_uc010bzb.1_Intron|C16orf92_uc002dvs.2_Missense_Mutation_p.L119I	NM_001109659	NP_001103129	Q96LL3	CP092_HUMAN	Homo sapiens chromosome 16 open reading frame 92 (C16orf92), transcript variant 1, mRNA.	119						integral to membrane				breast(3)|lung(3)	6						CTTCTTTCTCCTTTTCCAGTT	0.587000														47			18		2.94398e-08	9.26005e-08	0.000958276	1	0
HAUS1	115106	broad.mit.edu	37	18	43698189	43698189	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr18:43698189C>T	uc002lbu.3	+	2	328	c.248C>T	c.(247-249)tCc>tTc	p.S83F	HAUS1_uc002lbv.3_Missense_Mutation_p.S7F	NM_138443	NP_612452	Q96CS2	HAUS1_HUMAN	Homo sapiens HAUS augmin-like complex, subunit 1 (HAUS1), transcript variant 1, mRNA.	83					cell division|centrosome organization|mitosis|spindle assembly	HAUS complex|centrosome|microtubule|spindle pole				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	7						GTGAATTTTTCCCCCGCCAAT	0.418000														64			27		0	0	0.00127121	0	0
MAGEC1	9947	broad.mit.edu	37	X	140996397	140996397	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chrX:140996397C>T	uc004fbt.3	+	3	3531	c.3207C>T	c.(3205-3207)ttC>ttT	p.F1069F	MAGEC1_uc010nsl.2_Silent_p.F136F|MAGEC1_uc022cfi.1_Silent_p.F728F	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	1069	MAGE.						protein binding	p.F1069F(2)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					GTTACGAATTCCTGTGGGGTC	0.488000										HNSCC(15;0.026)				37			48		0	0	0.00361006	0	0
KLK13	26085	broad.mit.edu	37	19	51563169	51563169	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:51563169G>A	uc002pvn.3	-	2	464	c.421C>T	c.(421-423)Caa>Taa	p.Q141*	KLK13_uc002pvl.3_Intron|KLK13_uc002pvm.3_Non-coding_Transcript|KLK13_uc002pvo.3_Intron|KLK13_uc002pvp.3_Non-coding_Transcript|KLK13_uc010eon.3_Intron|KLK13_uc002pvq.3_Intron|KLK13_uc010eoo.3_Intron|KLK13_uc002pvr.3_Nonsense_Mutation_p.Q141*	NM_015596	NP_056411	Q9UKR3	KLK13_HUMAN	Homo sapiens kallikrein-related peptidase 13 (KLK13), mRNA.	141	Peptidase S1.				proteolysis		protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	16		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00432)		GGCAGGGTTTGGATGTAGCCT	0.632000														34			12		0	0	0.00136819	0	0
GPR126	57211	broad.mit.edu	37	6	142737042	142737042	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:142737042G>A	uc010khe.3	+	19	3190	c.2779G>A	c.(2779-2781)Gat>Aat	p.D927N	GPR126_uc010khc.3_Missense_Mutation_p.D927N|GPR126_uc010khd.3_Missense_Mutation_p.D899N|GPR126_uc010khf.3_Missense_Mutation_p.D899N	NM_198569	NP_940971	Q86SQ4	GP126_HUMAN	Homo sapiens G protein-coupled receptor 126 (GPR126), transcript variant b1, mRNA.	927					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.Y927C(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36	Breast(32;0.176)			OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)		CTTCAATGTGGATGGACTTTG	0.473000														120			57		0	0	0.00361006	0	0
PLCB2	5330	broad.mit.edu	37	15	40590104	40590104	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr15:40590104G>A	uc001zld.3	-	11	1513	c.1212C>T	c.(1210-1212)atC>atT	p.I404I	PLCB2_uc010bbo.3_Silent_p.I404I|PLCB2_uc010ucm.2_Silent_p.I404I	NM_004573	NP_004564	Q00722	PLCB2_HUMAN	Homo sapiens phospholipase C, beta 2 (PLCB2), mRNA.	404	PI-PLC X-box.				activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		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;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		CAAACGACAGGATGATGGGAT	0.542000														29			11		0	0	0.00400662	0	0
USP39	10713	broad.mit.edu	37	2	85848678	85848678	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:85848678C>T	uc002sqe.3	+	2	445	c.409C>T	c.(409-411)Ctg>Ttg	p.L137L	USP39_uc002sqb.3_5'UTR|USP39_uc010ysu.2_Silent_p.L59L|USP39_uc010ysv.2_Intron|USP39_uc010fgn.1_Silent_p.L137L|USP39_uc002sqg.3_Silent_p.L137L|USP39_uc010fgo.3_Silent_p.L137L	NM_006590	NP_006581	Q53GS9	SNUT2_HUMAN	Homo sapiens ubiquitin specific peptidase 39 (USP39), mRNA.	137					spliceosome assembly|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin thiolesterase activity|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	19						TTATGCCTGTCTGGTGTGTGG	0.368000														61			29		0	0	0.00327116	0	0
FSTL1	11167	broad.mit.edu	37	3	120134855	120134855	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:120134855G>A	uc003eds.3	-	2	258	c.83C>T	c.(82-84)tCc>tTc	p.S28F	FSTL1_uc011bjh.2_Intron|FSTL1_uc010hrb.2_Missense_Mutation_p.S28F	NM_007085	NP_009016	Q12841	FSTL1_HUMAN	Homo sapiens follistatin-like 1 (FSTL1), mRNA.	28					BMP signaling pathway	extracellular space	calcium ion binding|heparin binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|skin(1)	20				GBM - Glioblastoma multiforme(114;0.189)		ACAGATCTTGGATTTGCTCCT	0.453000														97			49		0	0	0.00361006	0	0
A2ML1	144568	broad.mit.edu	37	12	8994114	8994114	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:8994114G>A	uc001quz.4	+	10	1328	c.1230G>A	c.(1228-1230)ggG>ggA	p.G410G	A2ML1_uc001qva.1_5'Flank	NM_144670	NP_653271	B3KVV6	B3KVV6_HUMAN	Homo sapiens alpha-2-macroglobulin-like 1 (A2ML1), mRNA.	254						extracellular space	endopeptidase inhibitor activity			NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						GTTGGAATGGGACAGACGTTT	0.468000														40			15		0	0	0.00316338	0	0
MAST1	22983	broad.mit.edu	37	19	12958443	12958443	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:12958443C>T	uc002mvm.3	+	5	634	c.506C>T	c.(505-507)tCc>tTc	p.S169F	MAST1_uc021upp.1_5'UTR	NM_014975	NP_055790	Q9Y2H9	MAST1_HUMAN	Homo sapiens microtubule associated serine/threonine kinase 1 (MAST1), mRNA.	169					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						CGCTCCCCCTCCTCCTACGAC	0.627000											OREG0025277	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		29			12		0	0	0.00244969	0	0
XIRP2	129446	broad.mit.edu	37	2	168100111	168100111	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:168100111G>A	uc002udx.3	+	8	2298	c.2209G>A	c.(2209-2211)Gaa>Aaa	p.E737K	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.E562K|XIRP2_uc010fpq.3_Missense_Mutation_p.E515K|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	562					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AAAATGTTTCGAAACTCAACC	0.373000														31			24		0	0	0.00229938	0	0
OBSCN	84033	broad.mit.edu	37	1	228473846	228473846	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:228473846C>T	uc009xez.1	+	33	9116	c.9072C>T	c.(9070-9072)ttC>ttT	p.F3024F	OBSCN_uc001hsn.3_Silent_p.F3024F|OBSCN_uc001hsq.1_Silent_p.F280F	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	3024	Ig-like 30.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CGGCCACCTTCCGTTGCCGGA	0.632000														10			6		0	0	0.00198382	0	0
DIAPH1	1729	broad.mit.edu	37	5	140961908	140961908	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:140961908G>A	uc003llb.4	-	6	796	c.655C>T	c.(655-657)Cgc>Tgc	p.R219C	DIAPH1_uc003llc.4_Missense_Mutation_p.R210C|DIAPH1_uc021yep.1_Missense_Mutation_p.R219C|DIAPH1_uc021yeq.1_Missense_Mutation_p.R210C	NM_005219	NP_005210	O60610	DIAP1_HUMAN	Homo sapiens diaphanous homolog 1 (Drosophila) (DIAPH1), transcript variant 1, mRNA.	219	GBD/FH3.				regulation of microtubule-based process|sensory perception of sound	cytoplasm|cytoskeleton|ruffle membrane	Rho GTPase binding|actin binding|receptor binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCAAGCAGCGAATGATCTCA	0.408000														37			19		0	0	0.00229938	0	0
ADAMTS6	11174	broad.mit.edu	37	5	64511272	64511272	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:64511272C>T	uc003jtp.3	-	18	3129	c.2315G>A	c.(2314-2316)tGg>tAg	p.W772*	ADAMTS6_uc003jto.3_Non-coding_Transcript|ADAMTS6_uc003jtq.3_Non-coding_Transcript|ADAMTS6_uc003jtr.1_Nonsense_Mutation_p.W393*	NM_197941	NP_922932	Q9UKP5	ATS6_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 6 (ADAMTS6), mRNA.	772	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3)	18		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)		GTCAATAGTCCAGGCACCATT	0.378000														42			18		0	0	0.00121646	0	0
UGT2B4	7363	broad.mit.edu	37	4	70361450	70361450	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr4:70361450C>T	uc003hek.4	-	0	177	c.130G>A	c.(130-132)Gat>Aat	p.D44N	UGT2B4_uc011cap.2_Intron|UGT2B4_uc003hel.4_Missense_Mutation_p.D44N	NM_021139	NP_066962	P06133	UD2B4_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B4 (UGT2B4), mRNA.	44					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						ACAAGTTCATCCAGGATTGTC	0.448000														110			54		0	0	0.00361006	0	0
TMEM71	137835	broad.mit.edu	37	8	133734323	133734323	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr8:133734323G>A	uc003ytn.3	-	6	887	c.658C>T	c.(658-660)Ctg>Ttg	p.L220L	TMEM71_uc003ytm.2_Silent_p.L60L|TMEM71_uc003yto.3_Silent_p.L176L	NM_144649	NP_653250	Q6P5X7	TMM71_HUMAN	Homo sapiens transmembrane protein 71 (TMEM71), transcript variant 1, mRNA.	239						integral to membrane				endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			ACAGCAAGCAGGATTGCCTGA	0.348000														78			27		0	0	0.00127121	0	0
NPY5R	4889	broad.mit.edu	37	4	164272537	164272537	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr4:164272537C>T	uc003iqn.3	+	3	1294	c.1112C>T	c.(1111-1113)aCc>aTc	p.T371I	NPY5R_uc021xtw.1_Missense_Mutation_p.T371I	NM_006174	NP_006165	Q15761	NPY5R_HUMAN	Homo sapiens neuropeptide Y receptor Y5 (NPY5R), mRNA.	371					cardiac left ventricle morphogenesis|outflow tract morphogenesis	integral to plasma membrane				NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_hematologic(180;0.166)	Prostate(90;0.109)				TACAGACTGACCATACTGATA	0.328000														54			27		0	0	0.000878237	0	0
USP44	84101	broad.mit.edu	37	12	95927181	95927181	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:95927181C>T	uc001teg.3	-	1	996	c.852G>A	c.(850-852)atG>atA	p.M284I	USP44_uc001teh.3_Missense_Mutation_p.M284I|USP44_uc009zte.3_Missense_Mutation_p.M281I	NM_001042403	NP_115523	Q9H0E7	UBP44_HUMAN	Homo sapiens ubiquitin specific peptidase 44 (USP44), transcript variant 2, mRNA.	284					anaphase|cell division|mitosis|negative regulation of mitotic anaphase-promoting complex activity|protein deubiquitination|regulation of spindle checkpoint|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(5)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	36						GAACAGAATTCATATAGCAAG	0.368000														62			18		0	0	0.000566183	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37508190	37508190	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr10:37508190G>A	uc021ppc.1	+	33	3481	c.3382G>A	c.(3382-3384)Gaa>Aaa	p.E1128K	ANKRD30A_uc001iza.1_Missense_Mutation_p.E1128K	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	1184						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						TAAATTGAAGGAAAAACAAGA	0.368000														75			29		0	0	0.00127121	0	0
USH2A	7399	broad.mit.edu	37	1	215960078	215960078	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:215960078C>T	uc001hku.1	-	51	10708	c.10321G>A	c.(10321-10323)Gaa>Aaa	p.E3441K		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	3441	Fibronectin type-III 19.				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)		CACATTTCTTCAATTGATGCC	0.453000										HNSCC(13;0.011)				61			26		0	0	0.0024448	0	0
CSMD1	64478	broad.mit.edu	37	8	3216752	3216752	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr8:3216752G>A	uc022aqr.1	-	20	3616	c.3226C>T	c.(3226-3228)Cgt>Tgt	p.R1076C	CSMD1_uc011kwj.2_Missense_Mutation_p.R469C|CSMD1_uc003wqe.3_Missense_Mutation_p.R233C	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	1077	Sushi 6.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CCTTCTAAACGATATCCCAGG	0.557000														48			17		0	0	0.00121646	0	0
PRDM14	63978	broad.mit.edu	37	8	70978470	70978470	+	Splice_Site	SNP	C	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr8:70978470C>A	uc003xym.3	-	5	1385	c.1183_splice	c.e5+1	p.E395_splice		NM_024504	NP_078780	Q9GZV8	PRD14_HUMAN	Homo sapiens PR domain containing 14 (PRDM14), mRNA.	395					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			GTGCACTCACCTTCAGAGGGC	0.557000														38			20		8.28177e-16	2.61388e-15	0.000958276	1	0
FBXL2	25827	broad.mit.edu	37	3	33400467	33400467	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:33400467C>T	uc003cfp.3	+	2	145	c.74C>T	c.(73-75)tCc>tTc	p.S25F	FBXL2_uc011axm.1_Non-coding_Transcript|FBXL2_uc011axn.1_Non-coding_Transcript|FBXL2_uc011axp.2_Intron|FBXL2_uc021wuy.1_Missense_Mutation_p.S25F|FBXL2_uc011axo.2_5'UTR|FBXL2_uc011axr.1_Intron|FBXL2_uc011axq.1_Intron|FBXL2_uc011axs.1_Non-coding_Transcript	NM_012157	NP_036289	Q9UKC9	FBXL2_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 2 (FBXL2), transcript variant 1, mRNA.	25	F-box.				interspecies interaction between organisms|proteolysis	cytoplasm|membrane	protein binding|ubiquitin-protein ligase activity			endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|urinary_tract(1)	15						AGAATATTTTCCTTCTTGGAT	0.323000														14			12		0	0	0.00136819	0	0
SLC16A5	9121	broad.mit.edu	37	17	73096357	73096357	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr17:73096357C>T	uc002jmr.3	+	4	971	c.599C>T	c.(598-600)aCc>aTc	p.T200I	SLC16A5_uc002jmt.3_Missense_Mutation_p.T200I|SLC16A5_uc002jmu.3_Missense_Mutation_p.T200I|SLC16A5_uc010wrt.2_Missense_Mutation_p.T240I	NM_004695	NP_004686	O15375	MOT6_HUMAN	Homo sapiens solute carrier family 16, member 5 (monocarboxylic acid transporter 6) (SLC16A5), mRNA.	200					organic anion transport	integral to plasma membrane|membrane fraction	secondary active monocarboxylate transmembrane transporter activity|symporter activity			central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	all_lung(278;0.226)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)		Pyruvic acid(DB00119)	GCCCCTGAGACCAAAGAATGT	0.647000														15			15		0	0	0.00244969	0	0
ALOX12B	242	broad.mit.edu	37	17	7979644	7979644	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr17:7979644C>T	uc002gjy.1	-	10	1642	c.1381G>A	c.(1381-1383)Gaa>Aaa	p.E461K		NM_001139	NP_001130	O75342	LX12B_HUMAN	Homo sapiens arachidonate 12-lipoxygenase, 12R type (ALOX12B), mRNA.	461	Lipoxygenase.				epidermis development|leukotriene biosynthetic process		arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity			endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	16						GCAAAGCCTTCCACGCCCAGG	0.617000										Multiple Myeloma(8;0.094)				3			4		0	0	0.00024832	0	0
SPAM1	6677	broad.mit.edu	37	7	123594010	123594010	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:123594010A>T	uc003vle.3	+	2	825	c.386A>T	c.(385-387)aAa>aTa	p.K129I	SPAM1_uc011koa.1_5'Flank|SPAM1_uc003vld.3_Missense_Mutation_p.K129I|SPAM1_uc022aks.1_Missense_Mutation_p.K129I|SPAM1_uc003vlf.4_Missense_Mutation_p.K129I|SPAM1_uc010lku.3_Missense_Mutation_p.K129I	NM_003117	NP_003108	P38567	HYALP_HUMAN	Homo sapiens sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding) (SPAM1), transcript variant 1, mRNA.	129					binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity			breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46					Hyaluronidase(DB00070)	AAAGCTAAGAAAGACATTACA	0.408000														51			24		0	0	0.00395357	0	0
SLC7A9	11136	broad.mit.edu	37	19	33353099	33353099	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:33353099G>C	uc002ntv.4	-	5	746	c.629C>G	c.(628-630)tCt>tGt	p.S210C	SLC7A9_uc002ntt.4_Intron|SLC7A9_uc002ntu.4_Missense_Mutation_p.S210C|SLC7A9_uc021usa.1_Missense_Mutation_p.S210C|SLC7A9_uc002ntw.4_Intron|JA660679_uc021usb.1_5'Flank	NM_001126335	NP_055085	P82251	BAT1_HUMAN	Homo sapiens solute carrier family 7 (glycoprotein-associated amino acid transporter light chain, bo,+ system), member 9 (SLC7A9), transcript variant 2, mRNA.	210					blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	integral to plasma membrane	L-cystine transmembrane transporter activity|neutral amino acid transmembrane transporter activity|peptide antigen binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32	Esophageal squamous(110;0.137)				L-Cystine(DB00138)	GCCCTCGAAAGAATTATCAAA	0.527000														54			23		0	0	0.00188189	0	0
CHTOP	26097	broad.mit.edu	37	1	153617696	153617696	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:153617696C>T	uc001fcn.2	+	5	1080	c.701C>T	c.(700-702)gCt>gTt	p.A234V	CHTOP_uc001fcm.2_Missense_Mutation_p.A233V|CHTOP_uc021ozz.1_3'UTR|CHTOP_uc001fco.2_Missense_Mutation_p.A208V|CHTOP_uc001fcp.3_Non-coding_Transcript	NM_001206612	NP_001193541	Q9Y3Y2	CHTOP_HUMAN	Homo sapiens chromatin target of PRMT1 (CHTOP), transcript variant 2, mRNA.	233					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	RNA binding|protein binding			endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(6)	13						CACCTGGATGCTGAGTTGGAT	0.502000														40			21		0	0	0.00229938	0	0
DCC	1630	broad.mit.edu	37	18	50432551	50432551	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr18:50432551C>T	uc002lfe.2	+	2	1166	c.550C>T	c.(550-552)Cca>Tca	p.P184S	DCC_uc010xdr.1_Missense_Mutation_p.P32S	NM_005215	NP_005206	P43146	DCC_HUMAN	Homo sapiens deleted in colorectal carcinoma (DCC), mRNA.	184	Ig-like C2-type 2.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		p.I183I(1)		NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		GACTCCAATCCCAGGTGACTC	0.542000														30			17		0	0	0.00400662	0	0
TMIGD2	126259	broad.mit.edu	37	19	4298254	4298254	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:4298254C>T	uc002lzx.2	-	1	181	c.135G>A	c.(133-135)caG>caA	p.Q45Q	TMIGD2_uc021umz.1_Intron|TMIGD2_uc021una.1_Intron|TMIGD2_uc010dtv.2_Silent_p.Q45Q	NM_144615	NP_653216	Q96BF3	TMIG2_HUMAN	Homo sapiens transmembrane and immunoglobulin domain containing 2 (TMIGD2), transcript variant 1, mRNA.	45	Ig-like.					integral to membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(2)	19				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTGGTCCACCTGGCAGACCA	0.632000														15			9		0	0	0.000274275	0	0
TSIX	9383	broad.mit.edu	37	X	73047456	73047456	+	RNA	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chrX:73047456G>A	uc004ebn.2	+	0		c.35417G>A			XIST_uc004ebm.1_Non-coding_Transcript					Homo sapiens TSIX transcript, XIST antisense RNA (non-protein coding) (TSIX), antisense RNA.																		TAAAACGAACGAGAAGGGGAA	0.398000														0			6		0	0	0.00116845	0	0
PRTG	283659	broad.mit.edu	37	15	55930825	55930825	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr15:55930825C>T	uc002adg.3	-	13	2422	c.2374G>A	c.(2374-2376)Gaa>Aaa	p.E792K		NM_173814	NP_776175	Q2VWP7	PRTG_HUMAN	Homo sapiens protogenin (PRTG), mRNA.	792	Fibronectin type-III 4.				multicellular organismal development	integral to membrane				breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		ACGGCAAATTCGTATTTGGTG	0.393000														19			18		0	0	0.00121646	0	0
HHIPL1	84439	broad.mit.edu	37	14	100129338	100129338	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr14:100129338C>T	uc010avs.3	+	5	1693	c.1628C>T	c.(1627-1629)tCc>tTc	p.S543F	HHIPL1_uc001ygl.1_Missense_Mutation_p.S543F	NM_001127258	NP_001120730	Q96JK4	HIPL1_HUMAN	Homo sapiens HHIP-like 1 (HHIPL1), transcript variant 1, mRNA.	543					carbohydrate metabolic process	extracellular region|membrane	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding|scavenger receptor activity	p.S543F(2)		breast(1)|endometrium(2)|large_intestine(2)|lung(8)|skin(2)	15		Melanoma(154;0.128)				TACATCATCTCCTTCGGGGAG	0.607000														12			16		0	0	0.00400662	0	0
NYAP2	57624	broad.mit.edu	37	2	226446965	226446965	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:226446965G>A	uc002voe.2	+	3	1007	c.832G>A	c.(832-834)Gac>Aac	p.D278N	NYAP2_uc010fxa.1_Intron|NYAP2_uc002vof.1_Missense_Mutation_p.D48N	NM_020864	NP_065915	Q9P242	K1486_HUMAN	Homo sapiens neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2 (NYAP2), mRNA.	278																	TATCTTTGACGACTTGGGCCA	0.537000														54			32		0	0	0.001512	0	0
FAM46D	169966	broad.mit.edu	37	X	79698637	79698637	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chrX:79698637C>T	uc022bzm.1	+	0	599	c.599C>T	c.(598-600)cCt>cTt	p.P200L	FAM46D_uc004edl.1_Missense_Mutation_p.P200L|FAM46D_uc004edm.2_Missense_Mutation_p.P200L	NM_152630	NP_689843	Q8NEK8	FA46D_HUMAN	Homo sapiens family with sequence similarity 46, member D (FAM46D), transcript variant 2, mRNA.	200										kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23						GAATCCTATCCTGTTGTGGTA	0.403000														15			22		0	0	0.00229938	0	0
OR52L1	338751	broad.mit.edu	37	11	6007946	6007946	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:6007946G>A	uc001mcd.2	-	0	270	c.215C>T	c.(214-216)tCc>tTc	p.S72F		NM_001005173	NP_001005173	Q8NGH7	O52L1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily L, member 1 (OR52L1), mRNA.	72					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTGGTGCAAGGATGGGTCCAT	0.537000														21			9		0	0	0.000442599	0	0
ZSCAN4	201516	broad.mit.edu	37	19	58187627	58187627	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:58187627G>A	uc002qpu.3	+	2	811	c.114G>A	c.(112-114)ggG>ggA	p.G38G		NM_152677	NP_689890	Q8NAM6	ZSCA4_HUMAN	Homo sapiens zinc finger and SCAN domain containing 4 (ZSCAN4), mRNA.	38					telomere maintenance via telomere lengthening|viral reproduction	nuclear chromosome, telomeric region	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(5)|liver(2)|lung(17)|ovary(1)|skin(1)|stomach(1)	30		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;0.026)		GAGAAGAAGGGATTTCTGAGT	0.383000														47			15		0	0	0.00400662	0	0
OR13C8	138802	broad.mit.edu	37	9	107331514	107331514	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr9:107331514G>A	uc011lvo.2	+	0	66	c.66G>A	c.(64-66)aaG>aaA	p.K22K		NM_001004483	NP_001004483	Q8NGS7	O13C8_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 8 (OR13C8), mRNA.	22					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						CCCACCCAAAGCTCCAGACAG	0.428000														129			47		0	0	0.00361006	0	0
PRKG2	5593	broad.mit.edu	37	4	82125774	82125774	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr4:82125774G>A	uc003hmh.2	-	0	441	c.428C>T	c.(427-429)tCc>tTc	p.S143F	PRKG2_uc011cch.1_Missense_Mutation_p.S143F	NM_006259	NP_006250	Q13237	KGP2_HUMAN	Homo sapiens protein kinase, cGMP-dependent, type II (PRKG2), mRNA.	143					platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						TTTCTCAAAGGAAAATTCAGG	0.453000														288			106		0	0	0.00361006	0	0
TLE1	7088	broad.mit.edu	37	9	84230986	84230986	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr9:84230986G>A	uc004alz.3	-	10	1300	c.859C>T	c.(859-861)Cgc>Tgc	p.R287C	TLE1_uc004aly.3_Missense_Mutation_p.R277C|TLE1_uc011lsr.2_Missense_Mutation_p.R277C|TLE1_uc004ama.1_Missense_Mutation_p.R277C|TLE1_uc011lss.1_Missense_Mutation_p.R203C	NM_005077	NP_005068	Q04724	TLE1_HUMAN	Homo sapiens transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila) (TLE1), mRNA.	277	Pro/Ser-rich.				Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|organ morphogenesis|transcription, DNA-dependent		transcription factor binding			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	29						TTTAGCAGGCGATTTTTGTCG	0.483000														103			74		0	0	0.00361006	0	0
CHST9	83539	broad.mit.edu	37	18	24496881	24496881	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr18:24496881G>A	uc002kwd.3	-	4	903	c.674C>T	c.(673-675)tCc>tTc	p.S225F	CHST9-AS1_uc002kwb.2_Intron|CHST9-AS1_uc010xbm.2_Intron|CHST9_uc002kwe.3_Missense_Mutation_p.S225F|CHST9_uc021uij.1_Missense_Mutation_p.S140F	NM_001243848	NP_001230777	Q7L1S5	CHST9_HUMAN	Homo sapiens carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 9 (CHST9), transcript variant 2, mRNA.	225					carbohydrate biosynthetic process|glycosaminoglycan metabolic process|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi membrane|extracellular region|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|skin(3)	28	all_lung(6;0.0145)|Ovarian(20;0.124)					TTTCCAATTGGAACAGCCAGC	0.393000														46			30		0	0	0.00106085	0	0
OR13C2	392376	broad.mit.edu	37	9	107367329	107367329	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr9:107367329C>T	uc011lvq.2	-	0	580	c.580G>A	c.(580-582)Gac>Aac	p.D194N		NM_001004481	NP_001004481	Q8NGS9	O13C2_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 2 (OR13C2), mRNA.	194					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						AACTCATTGTCTGAGATGTCA	0.388000														121			29		0	0	0.00375469	0	0
SPTBN4	57731	broad.mit.edu	37	19	40993709	40993709	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:40993709G>A	uc002ony.3	+	2	361	c.275G>A	c.(274-276)gGc>gAc	p.G92D	SPTBN4_uc002onx.3_Missense_Mutation_p.G92D|SPTBN4_uc002onz.3_Missense_Mutation_p.G92D	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 4 (SPTBN4), transcript variant sigma1, mRNA.	92	Actin-binding.|CH 1.				actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	PML body|cytosol|nuclear matrix|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CTCCGGGACGGCTTCGTGCTC	0.672000														30			12		0	0	0.00136819	0	0
IFIT1B	439996	broad.mit.edu	37	10	91143846	91143846	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr10:91143846A>G	uc001kgh.3	+	1	856	c.776A>G	c.(775-777)aAg>aGg	p.K259R	LIPA_uc001kgb.4_Intron|LIPA_uc001kgc.4_Intron	NM_001010987	NP_001010987	Q5T764	IFT1B_HUMAN	Homo sapiens interferon-induced protein with tetratricopeptide repeats 1B (IFIT1B), mRNA.	259							binding			endometrium(2)|large_intestine(3)|lung(8)	13						TATGCAGCCAAGTTTTATCGA	0.443000														71			51		0	0	0.00361006	0	0
PKD1L2	114780	broad.mit.edu	37	16	81253727	81253727	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr16:81253727C>T	uc002fgh.1	-	0	249	c.249G>A	c.(247-249)agG>agA	p.R83R	PKD1L2_uc002fgj.3_Silent_p.R83R	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN	Homo sapiens polycystic kidney disease 1-like 2 (PKD1L2), transcript variant 1, mRNA.	83	C-type lectin.				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						TCCACCATTCCCTGTCCTGGG	0.537000														27			14		0	0	0.00244969	0	0
MRPL20	55052	broad.mit.edu	37	1	1342368	1342368	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:1342368C>T	uc010nyn.1	-	1	215	c.119G>A	c.(118-120)aGg>aAg	p.R40K	MRPL20_uc001afo.4_Missense_Mutation_p.R40K	NM_017971	NP_060441	Q9BYC9	RM20_HUMAN	Homo sapiens mitochondrial ribosomal protein L20 (MRPL20), nuclear gene encoding mitochondrial protein, mRNA.	40							protein binding|rRNA binding			endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	5	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		GACCGCCAACCTGTAGCAGCG	0.592000														88			79		0	0	0.00361006	0	0
EVPL	2125	broad.mit.edu	37	17	74019640	74019640	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr17:74019640G>A	uc010wss.1	-	2	522	c.294C>T	c.(292-294)ttC>ttT	p.F98F	EVPL_uc002jqi.2_Silent_p.F98F|EVPL_uc010wst.1_5'UTR	NM_001988	NP_001979	Q92817	EVPL_HUMAN	Homo sapiens envoplakin (EVPL), mRNA.	98	Globular 1.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						CCACGTCCAGGAAGAGGTCCT	0.662000														25			20		0	0	0.00188189	0	0
SETBP1	26040	broad.mit.edu	37	18	42531846	42531846	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr18:42531846C>T	uc010dni.3	+	3	2837	c.2541C>T	c.(2539-2541)tcC>tcT	p.S847S		NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN	Homo sapiens SET binding protein 1 (SETBP1), transcript variant 1, mRNA.	847						nucleus	DNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		AGATTGGCTCCCTAAAGGAAA	0.552000									Schinzel-Giedion syndrome					30			16		0	0	0.00400662	0	0
MRGPRX2	117194	broad.mit.edu	37	11	19077940	19077940	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:19077940T>C	uc001mph.3	-	1	98	c.10A>G	c.(10-12)Acc>Gcc	p.T4A	MRGPRX2_uc021qer.1_Missense_Mutation_p.T4A	NM_054030	NP_473371	Q96LB1	MRGX2_HUMAN	Homo sapiens MAS-related GPR, member X2 (MRGPRX2), mRNA.	4					sensory perception of pain|sleep	plasma membrane	G-protein coupled receptor activity|neuropeptide binding			NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	15						GCCGGGGTGGTTGGATCCATG	0.502000														152			51		0	0	0.00361006	0	0
ELAVL2	1993	broad.mit.edu	37	9	23692797	23692797	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr9:23692797C>A	uc003zpu.3	-	6	1113	c.838G>T	c.(838-840)Gtg>Ttg	p.V280L	ELAVL2_uc003zps.3_Missense_Mutation_p.V267L|ELAVL2_uc003zpt.3_Missense_Mutation_p.V267L|ELAVL2_uc003zpv.3_Missense_Mutation_p.V280L|ELAVL2_uc003zpw.3_Missense_Mutation_p.V267L	NM_004432	NP_004423	Q12926	ELAV2_HUMAN	Homo sapiens ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2 (Hu antigen B) (ELAVL2), transcript variant 1, mRNA.	280	RRM 3.				regulation of transcription, DNA-dependent		mRNA 3'-UTR binding|nucleotide binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)		AGGTTGTACACAAATATACAC	0.468000														35			25		2.79863e-10	8.8179e-10	0.000720815	1	0
GPATCH8	23131	broad.mit.edu	37	17	42475713	42475713	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr17:42475713G>A	uc002igw.2	-	7	3951	c.3732C>T	c.(3730-3732)ctC>ctT	p.L1244L	GPATCH8_uc002igv.2_Silent_p.L1166L|GPATCH8_uc010wiz.2_Silent_p.L1166L	NM_001002909	NP_001002909	Q9UKJ3	GPTC8_HUMAN	Homo sapiens G patch domain containing 8 (GPATCH8), transcript variant 1, mRNA.	1244						intracellular	nucleic acid binding|zinc ion binding			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		TGGGGTCGGGGAGGTAGTTAT	0.597000														85			70		0	0	0.00361006	0	0
HSPBAP1	79663	broad.mit.edu	37	3	122478140	122478140	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:122478140G>A	uc003efu.2	-	3	639	c.500C>T	c.(499-501)tCc>tTc	p.S167F	HSPBAP1_uc003efv.2_Missense_Mutation_p.S167F	NM_024610	NP_078886	Q96EW2	HBAP1_HUMAN	Homo sapiens HSPB (heat shock 27kDa) associated protein 1 (HSPBAP1), mRNA.	167	Interaction with HSPB1 (By similarity).|JmjC.					cytoplasm				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|urinary_tract(1)	16				GBM - Glioblastoma multiforme(114;0.0531)		GGCTCCCAAGGAGCCAATCCA	0.448000														38			18		0	0	0.00121646	0	0
UBASH3A	53347	broad.mit.edu	37	21	43829558	43829558	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr21:43829558C>T	uc002zbe.3	+	2	279	c.195C>T	c.(193-195)tcC>tcT	p.S65S	UBASH3A_uc002zbf.3_Silent_p.S65S|UBASH3A_uc010gpe.3_Silent_p.S65S|UBASH3A_uc010gpc.3_Non-coding_Transcript|UBASH3A_uc010gpd.3_Non-coding_Transcript	NM_018961	NP_061834	P57075	UBS3A_HUMAN	Homo sapiens ubiquitin associated and SH3 domain containing A (UBASH3A), transcript variant 1, mRNA.	65						cytosol|nucleus				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3)	28						ATGACCCTTCCCTAGACGACC	0.527000														80			17		0	0	0.00121646	0	0
ZNF714	148206	broad.mit.edu	37	19	21299951	21299951	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:21299951C>T	uc002npo.4	+	4	859	c.481C>T	c.(481-483)Caa>Taa	p.Q161*	ZNF714_uc002npl.3_Nonsense_Mutation_p.Q7*|ZNF714_uc002npn.3_Non-coding_Transcript|ZNF714_uc010ecp.2_Non-coding_Transcript|ZNF714_uc021urp.1_5'Flank	NM_182515	NP_872321	Q96N38	ZN714_HUMAN	Homo sapiens zinc finger protein 714 (ZNF714), mRNA.	162					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|lung(11)|urinary_tract(2)	18						ACACCTACATCAACATAAAAG	0.323000														53			16		0	0	0.000566183	0	0
PLEKHA4	57664	broad.mit.edu	37	19	49344405	49344405	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:49344405C>T	uc002pkx.3	-	17	2456	c.1905_splice	c.e17+1	p.R635_splice	PLEKHA4_uc010eml.3_Intron	NM_020904	NP_065955	Q9H4M7	PKHA4_HUMAN	Homo sapiens pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4 (PLEKHA4), transcript variant 1, mRNA.	635						cytoplasm|membrane	1-phosphatidylinositol binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	30		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)		CCTCCCCTCACCCTTTGCTCC	0.617000														9			5		0	0	0.00116845	0	0
SLC39A4	55630	broad.mit.edu	37	8	145641389	145641389	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr8:145641389G>A	uc003zcq.3	-	1	379	c.279C>T	c.(277-279)gtC>gtT	p.V93V	SLC39A4_uc003zcm.1_5'Flank|SLC39A4_uc003zcn.3_5'Flank|SLC39A4_uc003zco.3_5'Flank|SLC39A4_uc003zcp.3_Silent_p.V68V	NM_130849	NP_570901	Q6P5W5	S39A4_HUMAN	Homo sapiens solute carrier family 39 (zinc transporter), member 4 (SLC39A4), transcript variant 2, mRNA.	93						cytoplasmic membrane-bounded vesicle|integral to membrane|recycling endosome membrane	zinc ion transmembrane transporter activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	14	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;1.12e-40)|all cancers(56;8.17e-36)|BRCA - Breast invasive adenocarcinoma(115;0.0407)|Colorectal(110;0.055)			TGAGGCGGGCGACGTACCTGG	0.721000														5			4		0	0	0.00024832	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84683372	84683372	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr15:84683372C>T	uc002bjz.4	+	23	4276	c.4052C>T	c.(4051-4053)tCc>tTc	p.S1351F	ADAMTSL3_uc010bmt.1_Missense_Mutation_p.S1351F	NM_207517	NP_997400	P82987	ATL3_HUMAN	Homo sapiens ADAMTS-like 3 (ADAMTSL3), mRNA.	1351	Ig-like C2-type 3.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			TTCAATGGATCCCTGTTGTTG	0.438000														28			104		0	0	0.00361006	0	0
SERPINB11	89778	broad.mit.edu	37	18	61390527	61390527	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr18:61390527G>A	uc002ljk.4	+	8	1241	c.1070G>A	c.(1069-1071)aGc>aAc	p.S357N	SERPINB11_uc010xes.2_Missense_Mutation_p.S183N|SERPINB11_uc010dqd.3_Intron|SERPINB11_uc002ljj.4_Missense_Mutation_p.S244N|SERPINB11_uc010dqe.3_Missense_Mutation_p.S157N|SERPINB11_uc010dqf.3_Missense_Mutation_p.S156N	NM_080475	NP_536723	Q96P15	SPB11_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene) (SERPINB11), mRNA.	358	RCL (By similarity).	Reactive bond (By similarity).			regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			breast(1)|cervix(1)|kidney(1)|lung(3)	6		Esophageal squamous(42;0.129)				GCTGTAAAAAGCCTACCAATG	0.502000														42			22		0	0	0.00278032	0	0
EFHB	151651	broad.mit.edu	37	3	19938289	19938289	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:19938289G>A	uc003cbl.4	-	8	1811	c.1615C>T	c.(1615-1617)Cga>Tga	p.R539*	EFHB_uc003cbm.3_Nonsense_Mutation_p.R409*	NM_144715	NP_653316	Q8N7U6	EFHB_HUMAN	Homo sapiens EF-hand domain family, member B (EFHB), mRNA.	539					signal transduction	proteinaceous extracellular matrix	calcium ion binding			breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1)	26						TCCTTGCCTCGAAGATATTCA	0.388000														12			17		0	0	0.00400662	0	0
MAP3K5	4217	broad.mit.edu	37	6	136977592	136977592	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:136977592G>A	uc003qhc.3	-	9	1894	c.1533C>T	c.(1531-1533)ctC>ctT	p.L511L	MAP3K5_uc011edj.2_5'UTR|MAP3K5_uc011edk.1_Silent_p.L356L|MAP3K5_uc010kgw.1_Silent_p.L511L	NM_005923	NP_005914	Q99683	M3K5_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 5 (MAP3K5), mRNA.	511					activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|MAP kinase kinase kinase activity|caspase activator activity|magnesium ion binding|protein homodimerization activity|protein phosphatase binding			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		CAATAGACTTGAGGTACCTGA	0.353000														105			31		0	0	0.00283554	0	0
GPR176	11245	broad.mit.edu	37	15	40094123	40094123	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr15:40094123G>A	uc001zkj.1	-	2	1624	c.758C>T	c.(757-759)tCt>tTt	p.S253F	GPR176_uc010uck.1_Missense_Mutation_p.S193F	NM_007223	NP_009154	Q14439	GP176_HUMAN	Homo sapiens G protein-coupled receptor 176 (GPR176), mRNA.	253					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)	23		all_cancers(109;4.05e-15)|all_epithelial(112;2.96e-13)|Lung NSC(122;8.53e-11)|all_lung(180;2.71e-09)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;4.4e-06)|BRCA - Breast invasive adenocarcinoma(123;0.123)		ATAGGGAATAGAGATGGTGTT	0.587000											OREG0023053	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		27			24		0	0	0.00278032	0	0
OR56A5	390084	broad.mit.edu	37	11	5988906	5988906	+	Silent	SNP	C	T	T	rs115262808	by1000genomes	TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:5988906C>T	uc010qzu.2	-	0	819	c.819G>A	c.(817-819)ccG>ccA	p.P273P		NM_001146033	NP_001139505	P0C7T3	O56A5_HUMAN	Homo sapiens olfactory receptor, family 56, subfamily A, member 5 (OR56A5), mRNA.	273						integral to membrane|plasma membrane	olfactory receptor activity										TGGGGACATCCGGAGGAATTC	0.517000														16			9		0	0	0.000274275	0	0
GRIK3	2899	broad.mit.edu	37	1	37307391	37307391	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:37307391C>T	uc001caz.2	-	9	1611	c.1476G>A	c.(1474-1476)ggG>ggA	p.G492G	GRIK3_uc001cba.1_Silent_p.G492G	NM_000831	NP_000822	Q13003	GRIK3_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 3 (GRIK3), mRNA.	492					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	G-protein-coupled receptor binding|adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	p.Y491*(1)		breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	CATCCTGTGCCCCGTACTTGC	0.597000														77			49		0	0	0.00361006	0	0
MUC16	94025	broad.mit.edu	37	19	9073481	9073481	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:9073481G>A	uc002mkp.3	-	2	14169	c.13965C>T	c.(13963-13965)ttC>ttT	p.F4655F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	4657	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						AAATATCTGGGAACTTTGTTG	0.463000														61			29		0	0	0.00178596	0	0
MYH1	4619	broad.mit.edu	37	17	10411972	10411972	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr17:10411972G>A	uc002gmo.3	-	15	1699	c.1605C>T	c.(1603-1605)tcC>tcT	p.S535S	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	535	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						CTTCCAGGATGGAGAAGATGC	0.393000														34			24		0	0	0.00127121	0	0
SPEF2	79925	broad.mit.edu	37	5	35814624	35814624	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:35814624C>T	uc003jjo.3	+	36	5549	c.5438C>T	c.(5437-5439)tCa>tTa	p.S1813L	SPEF2_uc003jjr.3_Missense_Mutation_p.S868L	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	Homo sapiens sperm flagellar 2 (SPEF2), transcript variant 1, mRNA.	1813					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GGAGAGAGATCACCTTCAAGA	0.303000														55			20		0	0	0.00152264	0	0
LRP1	4035	broad.mit.edu	37	12	57597059	57597059	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:57597059G>A	uc001snd.3	+	68	11273	c.10807G>A	c.(10807-10809)Ggc>Agc	p.G3603S		NM_002332	NP_002323	Q07954	LRP1_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	3603	LDL-receptor class A 27.				aorta morphogenesis|apoptotic cell clearance|negative regulation of Wnt receptor signaling pathway|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CTGCGCGGACGGCTCGGACGA	0.672000														9			5		0	0	0.000602214	0	0
IL20RA	53832	broad.mit.edu	37	6	137330539	137330539	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:137330539G>A	uc003qhj.3	-	3	927	c.494C>T	c.(493-495)cCa>cTa	p.P165L	IL20RA_uc011edl.2_Missense_Mutation_p.P116L|IL20RA_uc003qhk.3_Missense_Mutation_p.P54L|IL20RA_uc010kgy.1_Non-coding_Transcript|IL20RA_uc003qhi.3_5'Flank	NM_014432	NP_055247	Q9UHF4	I20RA_HUMAN	Homo sapiens interleukin 20 receptor, alpha (IL20RA), mRNA.	165	Fibronectin type-III 2.					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)		AAGGTCTTCTGGATTTCTCTT	0.438000														60			36		0	0	0.000953801	0	0
ZNF780B	163131	broad.mit.edu	37	19	40542422	40542422	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:40542422G>A	uc002omu.3	-	4	409	c.344C>T	c.(343-345)gCc>gTc	p.A115V	ZNF780B_uc002omv.3_5'UTR	NM_001005851	NP_001005851	Q9Y6R6	Z780B_HUMAN	Homo sapiens zinc finger protein 780B (ZNF780B), mRNA.	115					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					AAAATAAAAGGCCTCGAGGCC	0.328000														21			5		0	0	0.000602214	0	0
CAPSL	133690	broad.mit.edu	37	5	35910057	35910057	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:35910057G>A	uc003jjt.1	-	3	531	c.436C>T	c.(436-438)Cca>Tca	p.P146S	CAPSL_uc003jju.1_Missense_Mutation_p.P146S	NM_001042625	NP_653248	Q8WWF8	CAPSL_HUMAN	Homo sapiens calcyphosine-like (CAPSL), transcript variant 2, mRNA.	146	EF-hand 3.					cytoplasm	calcium ion binding			central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(10)|skin(1)|urinary_tract(1)	19	all_lung(31;0.000268)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.167)|Colorectal(62;0.202)			TGGTACTTTGGGTGGTGTTTT	0.368000														108			41		0	0	0.00321405	0	0
OR2H1	26716	broad.mit.edu	37	6	29430458	29430458	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:29430458G>A	uc003nmi.3	+	2	1355	c.912G>A	c.(910-912)ggG>ggA	p.G304G	OR2H1_uc003nmj.1_Silent_p.G304G|OR2H1_uc010jri.2_Silent_p.G226G|OR2H1_uc021ytr.1_Silent_p.G304G	NM_030883	NP_112145	Q9GZK4	OR2H1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily H, member 1 (OR2H1), mRNA.	304					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(5)|lung(12)	17						GGTTACTAGGGAAGGAAAGAG	0.433000														47			10		0	0	0.00136819	0	0
OR2M5	127059	broad.mit.edu	37	1	248308964	248308964	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:248308964G>A	uc010pze.2	+	0	515	c.515G>A	c.(514-516)cGg>cAg	p.R172Q		NM_001004690	NP_001004690	A3KFT3	OR2M5_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 5 (OR2M5), mRNA.	172					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R172W(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			TGTGGGTCTCGGGAAATAGCC	0.428000														195			74		0	0	0.00361006	0	0
ECE1	1889	broad.mit.edu	37	1	21546555	21546555	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:21546555G>A	uc001bek.2	-	18	2281	c.2206C>T	c.(2206-2208)Cgc>Tgc	p.R736C	ECE1_uc001bem.2_Missense_Mutation_p.R720C|ECE1_uc001bej.2_Missense_Mutation_p.R724C|ECE1_uc001bei.2_Missense_Mutation_p.R733C|ECE1_uc010odl.1_Missense_Mutation_p.R704C	NM_001397	NP_001388	P42892	ECE1_HUMAN	Homo sapiens endothelin converting enzyme 1 (ECE1), transcript variant 1, mRNA.	736					bradykinin catabolic process|calcitonin catabolic process|ear development|embryonic digit morphogenesis|endothelin maturation|heart development|positive regulation of receptor recycling|substance P catabolic process	Weibel-Palade body|early endosome|external side of plasma membrane|integral to membrane|intrinsic to endosome membrane|membrane fraction|perinuclear region of cytoplasm|plasma membrane	metal ion binding|metalloendopeptidase activity|protein homodimerization activity			endometrium(5)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	25		Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206)		ACCCGGAAGCGAGAGGGGCTG	0.617000														17			15		0	0	0.00316338	0	0
GRM3	2913	broad.mit.edu	37	7	86394765	86394765	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:86394765G>A	uc003uid.3	+	1	1403	c.304G>A	c.(304-306)Gat>Aat	p.D102N	GRM3_uc010lef.3_Missense_Mutation_p.D100N|GRM3_uc010leg.3_Intron|GRM3_uc010leh.3_Intron	NM_000840	NP_000831	Q14832	GRM3_HUMAN	Homo sapiens glutamate receptor, metabotropic 3 (GRM3), mRNA.	102					synaptic transmission	integral to plasma membrane		p.D102N(2)		NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	ATGTTCAAGGGATACCTATGC	0.418000														105			44		0	0	0.00361006	0	0
WRNIP1	56897	broad.mit.edu	37	6	2779538	2779539	+	Missense_Mutation	DNP	CT	TC	TC			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:2779538_2779539CT>TC	uc003mtz.3	+	3	1489_1490	c.1298_1299CT>TC	c.(1297-1299)gct>gTC	p.A433V	WRNIP1_uc003mua.3_Missense_Mutation_p.A408V	NM_020135	NP_064520	Q96S55	WRIP1_HUMAN	Homo sapiens Werner helicase interacting protein 1 (WRNIP1), transcript variant 1, mRNA.	433					DNA replication|DNA synthesis involved in DNA repair|regulation of DNA-dependent DNA replication initiation	mitochondrion|nucleus|perinuclear region of cytoplasm	ATP binding|ATPase activity|DNA binding|metal ion binding|protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14	Ovarian(93;0.0412)	all_hematologic(90;0.0895)				GACACCCTGGCTTACCTCAGTG	0.535000														82			19		0	0	6.4e-05	0	0
MCTP1	79772	broad.mit.edu	37	5	94275892	94275892	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:94275892C>T	uc003kkx.2	-	4	1069	c.1069G>A	c.(1069-1071)Gat>Aat	p.D357N	MCTP1_uc003kkv.2_Missense_Mutation_p.D136N|MCTP1_uc003kkw.2_Missense_Mutation_p.D136N|MCTP1_uc003kkz.2_Missense_Mutation_p.D18N	NM_024717	NP_078993	Q6DN14	MCTP1_HUMAN	Homo sapiens multiple C2 domains, transmembrane 1 (MCTP1), transcript variant L, mRNA.	357					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding	p.T356T(1)		breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		AGGGTCACATCTGTGGGCCTG	0.333000														63			30		0	0	0.001512	0	0
LMAN2L	81562	broad.mit.edu	37	2	97373551	97373551	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:97373551G>A	uc002swv.3	-	7	873	c.837C>T	c.(835-837)tcC>tcT	p.S279S	LMAN2L_uc002swu.3_Silent_p.S268S|LMAN2L_uc010yuu.2_Silent_p.S132S|LMAN2L_uc010yut.2_Silent_p.S134S|LMAN2L_uc010yuv.2_Silent_p.S121S|LMAN2L_uc010yuw.2_Silent_p.S123S|LMAN2L_uc010yux.2_Silent_p.S123S	NM_001142292	NP_001135764	Q9H0V9	LMA2L_HUMAN	Homo sapiens lectin, mannose-binding 2-like (LMAN2L), transcript variant 1, mRNA.	268					ER to Golgi vesicle-mediated transport|protein folding|protein transport	ER to Golgi transport vesicle|Golgi membrane|endoplasmic reticulum membrane|integral to membrane	mannose binding|metal ion binding			NS(1)|breast(1)|endometrium(1)|lung(2)|skin(1)|urinary_tract(1)	7						ACAACTTCAAGGAAATGACAT	0.418000														66			24		0	0	0.001512	0	0
CYSLTR1	10800	broad.mit.edu	37	X	77529033	77529033	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chrX:77529033G>A	uc022bzh.1	-	0	211	c.211C>T	c.(211-213)Ctt>Ttt	p.L71F	CYSLTR1_uc004edb.3_Missense_Mutation_p.L71F|CYSLTR1_uc010nma.3_Missense_Mutation_p.L71F|CYSLTR1_uc010nmb.3_Missense_Mutation_p.L71F	NM_006639	NP_006630	Q9Y271	CLTR1_HUMAN	Homo sapiens cysteinyl leukotriene receptor 1 (CYSLTR1), mRNA.	71					elevation of cytosolic calcium ion concentration|respiratory gaseous exchange	integral to plasma membrane|membrane fraction	leukotriene receptor activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14					Amlexanox(DB01025)|Cinalukast(DB00587)|Montelukast(DB00471)|Nedocromil(DB00716)|Pranlukast(DB01411)|Zafirlukast(DB00549)	CACACACAAAGTAGATCTGCT	0.433000														11			12		0	0	0.00185496	0	0
RETNLB	84666	broad.mit.edu	37	3	108476028	108476028	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:108476028C>T	uc003dxh.2	-	0	103	c.5G>A	c.(4-6)gGg>gAg	p.G2E		NM_032579	NP_115968	Q9BQ08	RETNB_HUMAN	Homo sapiens resistin like beta (RETNLB), mRNA.	2					cell proliferation	extracellular region	hormone activity			endometrium(1)|kidney(3)|lung(10)|prostate(1)|skin(1)	16						AGAGGACGGCCCCATCCTGTA	0.522000														26			18		0	0	0.00152264	0	0
INSC	387755	broad.mit.edu	37	11	15257208	15257208	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:15257208G>A	uc001mlz.3	+	9	1342	c.1231G>A	c.(1231-1233)Gaa>Aaa	p.E411K	INSC_uc001mly.3_Missense_Mutation_p.E458K|INSC_uc001mma.3_Missense_Mutation_p.E411K|INSC_uc010rcs.2_Missense_Mutation_p.E446K|INSC_uc001mmb.3_Missense_Mutation_p.E411K|INSC_uc001mmc.3_Missense_Mutation_p.E369K	NM_001042536	NP_001036001	Q1MX18	INSC_HUMAN	Homo sapiens inscuteable homolog (Drosophila) (INSC), transcript variant 2, mRNA.	458					cell differentiation|nervous system development	cytoplasm	binding			NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						CATCATTCAGGAAAATGGTAT	0.413000														57			42		0	0	0.00321405	0	0
DNAJC8	22826	broad.mit.edu	37	1	28527822	28527822	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:28527822C>T	uc001bpn.3	-	8	732	c.699G>A	c.(697-699)aaG>aaA	p.K233K	DNAJC8_uc001bpo.3_Non-coding_Transcript	NM_014280	NP_055095	O75937	DNJC8_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 8 (DNAJC8), mRNA.	233					nuclear mRNA splicing, via spliceosome|protein folding	nucleoplasm	heat shock protein binding|unfolded protein binding			kidney(1)|large_intestine(3)|lung(2)	6		Colorectal(325;3.46e-05)|Lung NSC(340;4.08e-05)|all_lung(284;4.29e-05)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.0105)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		OV - Ovarian serous cystadenocarcinoma(117;2.81e-22)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00275)|BRCA - Breast invasive adenocarcinoma(304;0.0059)|STAD - Stomach adenocarcinoma(196;0.00671)|READ - Rectum adenocarcinoma(331;0.0649)		TCTTCTCTTTCTTCCCCTTCG	0.493000														124			113		0	0	0.00361006	0	0
C10orf118	55088	broad.mit.edu	37	10	115891749	115891749	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr10:115891749G>A	uc001lbb.1	-	10	2502	c.1850C>T	c.(1849-1851)tCc>tTc	p.S617F	C10orf118_uc009xyd.1_Missense_Mutation_p.S215F|C10orf118_uc009xye.1_Non-coding_Transcript|C10orf118_uc001lbc.1_Missense_Mutation_p.S617F	NM_018017	NP_060487	Q7Z3E2	CJ118_HUMAN	Homo sapiens chromosome 10 open reading frame 118 (C10orf118), mRNA.	617										NS(1)|autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(2)	24		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0161)|all cancers(201;0.0397)		TTCACTACAGGAAACTTTATC	0.333000														39			28		0	0	0.00178596	0	0
CTNND2	1501	broad.mit.edu	37	5	10992745	10992745	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:10992745G>A	uc003jfa.1	-	18	3274	c.3129C>T	c.(3127-3129)atC>atT	p.I1043I	CTNND2_uc010itt.2_Silent_p.I952I|CTNND2_uc011cmy.1_Silent_p.I706I|CTNND2_uc011cmz.1_Silent_p.I610I|CTNND2_uc010itu.1_Non-coding_Transcript|CTNND2_uc011cmx.1_Silent_p.I635I	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	Homo sapiens catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein) (CTNND2), mRNA.	1043					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						GGTCCCTCTCGATGGTTGAAG	0.572000														51			26		0	0	0.00127121	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140214325	140214325	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:140214325G>A	uc003lhq.2	+	0	357	c.357G>A	c.(355-357)gtG>gtA	p.V119V	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc011dac.2_Silent_p.V119V	NM_018910	NP_061733	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 7 (PCDHA7), transcript variant 1, mRNA.	134	Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTTTCCATGTGGACGTGGAGG	0.587000														170			43		0	0	0.00361006	0	0
LRRIQ4	344657	broad.mit.edu	37	3	169550874	169550874	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:169550874C>T	uc003fgb.3	+	3	1433	c.1433C>T	c.(1432-1434)cCc>cTc	p.P478L		NM_001080460	NP_001073929	A6NIV6	LRIQ4_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 4 (LRRIQ4), mRNA.	478								p.N477T(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						ATGGACAATCCCATGGAAGAA	0.433000														35			18		0	0	0.00074312	0	0
OR10AG1	282770	broad.mit.edu	37	11	55735767	55735767	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:55735767G>A	uc010rit.2	-	0	173	c.173C>T	c.(172-174)tCc>tTc	p.S58F		NM_001005491	NP_001005491	Q8NH19	O10AG_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily AG, member 1 (OR10AG1), mRNA.	58					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S58F(2)|p.S58S(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40	Esophageal squamous(21;0.0137)					TTCCAAAAGGGAAAAATTGCT	0.348000														40			20		0	0	0.00152264	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140719247	140719247	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:140719247G>A	uc003ljk.2	+	0	894	c.709G>A	c.(709-711)Gac>Aac	p.D237N	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc011dao.2_Missense_Mutation_p.D237N	NM_018915	NP_061738	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 2 (PCDHGA2), transcript variant 1, mRNA.	237	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGATGCGAACGACAATGCGCC	0.587000														42			15		0	0	0.00400662	0	0
FAM75C1	441452	broad.mit.edu	37	9	90536048	90536048	+	Missense_Mutation	SNP	G	A	A	rs148240951	by1000genomes	TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr9:90536048G>A	uc010mqi.3	+	3	1255	c.1226G>A	c.(1225-1227)aGg>aAg	p.R409K	FAM75C1_uc004apq.4_Missense_Mutation_p.R392K	NM_001145124	NP_001138596			Homo sapiens family with sequence similarity 75, member C1 (FAM75C1), mRNA.																		CCTTTGTTGAGGAAACAACTA	0.498000														206			33		0	0	0.00361006	0	0
APOBEC3C	27350	broad.mit.edu	37	22	39411611	39411612	+	Missense_Mutation	DNP	AG	GA	GA			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr22:39411611_39411612AG>GA	uc003awr.3	+	1	132_133	c.29_30AG>GA	c.(28-30)aag>aGA	p.K10R		NM_014508	NP_055323	Q9NRW3	ABC3C_HUMAN	Homo sapiens apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3C (APOBEC3C), mRNA.	10					DNA demethylation|interspecies interaction between organisms|negative regulation of transposition		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|protein binding|zinc ion binding			endometrium(1)|large_intestine(3)|lung(1)|skin(1)	6	Melanoma(58;0.04)					AACCCGATGAAGGCAATGTATC	0.520000														53			28		0	0	6.4e-05	0	0
KLRC1	3821	broad.mit.edu	37	12	10601878	10601878	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:10601878C>T	uc001qyl.3	-	4	661	c.447G>A	c.(445-447)tcG>tcA	p.S149S	KLRC1_uc009zhm.2_Silent_p.S149S|KLRC1_uc001qym.3_Silent_p.S131S|KLRC1_uc001qyn.3_Silent_p.S149S|KLRC1_uc001qyo.3_Silent_p.S131S	NM_002259	NP_998823	P26715	NKG2A_HUMAN	Homo sapiens killer cell lectin-like receptor subfamily C, member 1 (KLRC1), transcript variant 1, mRNA.	149	C-type lectin.				cell surface receptor linked signaling pathway|regulation of immune response	integral to plasma membrane	sugar binding|transmembrane receptor activity	p.S149S(4)		NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|skin(1)	16						TGGAGTTCTTCGAAGTACAGG	0.368000														172			81		0	0	0.00361006	0	0
TCRBV20S1	0	broad.mit.edu	37	7	142032418	142032418	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:142032418C>T	uc011krs.1	+	1	271	c.238C>T	c.(238-240)Ccc>Tcc	p.P80S	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron					Homo sapiens mRNA for T cell receptor V beta6-D-J, partial cds.																		ATCGGGGCTTCCCCGTGATCG	0.552000														12			10		0	0	0.000442599	0	0
AFF4	27125	broad.mit.edu	37	5	132227973	132227973	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:132227973G>A	uc003kyd.3	-	12	2928	c.2520C>T	c.(2518-2520)tcC>tcT	p.S840S	AFF4_uc011cxk.2_Silent_p.S518S|AFF4_uc003kye.1_Silent_p.S840S	NM_014423	NP_055238	Q9UHB7	AFF4_HUMAN	Homo sapiens AF4/FMR2 family, member 4 (AFF4), mRNA.	840	Ser-rich.				transcription from RNA polymerase II promoter	mitochondrion|nucleolus	protein binding|sequence-specific DNA binding transcription factor activity	p.S839F(1)	SEPT8/AFF4(2)	breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2)	43		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TTGACTTTAAGGAAGAAGACT	0.463000														102			49		0	0	0.00361006	0	0
ALPK3	57538	broad.mit.edu	37	15	85401399	85401399	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr15:85401399C>T	uc002ble.3	+	5	4203	c.4036C>T	c.(4036-4038)Cca>Tca	p.P1346S		NM_020778	NP_065829	Q96L96	ALPK3_HUMAN	Homo sapiens alpha-kinase 3 (ALPK3), mRNA.	1346					heart development	nucleus	ATP binding|protein serine/threonine kinase activity			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GGAGAAGTTCCCAGGGGAGGC	0.647000														5			8		0	0	0.000442599	0	0
C17orf97	400566	broad.mit.edu	37	17	263815	263815	+	Missense_Mutation	SNP	C	T	T	rs148328036	byFrequency	TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr17:263815C>T	uc021tna.1	+	1	1197	c.1181C>T	c.(1180-1182)aCg>aTg	p.T394M	C17orf97_uc010vpz.1_Non-coding_Transcript	NM_001013672	NP_001013694	Q6ZQX7	CQ097_HUMAN	Homo sapiens chromosome 17 open reading frame 97 (C17orf97), mRNA.	424	20 X 10 AA approximative tandem repeat of A-L-K-G-F-H-P-D-P-E.									breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)	14						AGGCAGCCCACGTCGAAAGCC	0.552000														56			28		0	0	0.000878237	0	0
CSF2RA	1438	broad.mit.edu	37	X	1428361	1428361	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chrX:1428361G>A	uc010nct.2	+	13	1514	c.1192G>A	c.(1192-1194)Gaa>Aaa	p.E398K	CRLF2_uc022brt.1_Intron|CSF2RA_uc004cpq.2_3'UTR|CSF2RA_uc004cpn.2_Missense_Mutation_p.E398K|CSF2RA_uc004cpo.2_Missense_Mutation_p.E398K|CSF2RA_uc010ncu.2_Non-coding_Transcript|CSF2RA_uc011mhc.1_Missense_Mutation_p.E265K|CSF2RA_uc004cpp.2_Missense_Mutation_p.G338E|CSF2RA_uc010ncv.2_Missense_Mutation_p.E432K|CSF2RA_uc004cpr.2_3'UTR	NM_001161529	NP_001155004	P15509	CSF2R_HUMAN	Homo sapiens colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage) (CSF2RA), transcript variant 7, mRNA.	398						extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	GACCGTGAAGGAAATTACCTG	0.512000														102			43		0	0	0.0025221	0	0
SI	6476	broad.mit.edu	37	3	164737539	164737539	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:164737539C>T	uc003fei.3	-	27	3337	c.3274G>A	c.(3274-3276)Gga>Aga	p.G1092R		NM_001041	NP_001032	P14410	SUIS_HUMAN	Homo sapiens sucrase-isomaltase (alpha-glucosidase) (SI), mRNA.	1092	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	Golgi apparatus|apical plasma membrane|brush border|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	AAAGCAAATCCAGGCAGCCAA	0.353000										HNSCC(35;0.089)				37			16		0	0	0.000566183	0	0
DGKZ	8525	broad.mit.edu	37	11	46397925	46397925	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:46397925C>T	uc001ncn.1	+	23	2828	c.2703C>T	c.(2701-2703)tcC>tcT	p.S901S	DGKZ_uc001nch.2_Silent_p.S729S|DGKZ_uc010rgq.2_Silent_p.S695S|DGKZ_uc010rgr.2_Silent_p.S717S|DGKZ_uc001ncj.2_Silent_p.S679S|DGKZ_uc001nck.2_Silent_p.S491S|DGKZ_uc001ncm.2_Silent_p.S712S|DGKZ_uc001ncl.2_Silent_p.S713S|DGKZ_uc009yky.1_Silent_p.S713S|DGKZ_uc010rgs.1_Silent_p.S690S|MIR4688_uc021qim.1_5'Flank	NM_001105540	NP_001099010	Q13574	DGKZ_HUMAN	Homo sapiens diacylglycerol kinase, zeta (DGKZ), transcript variant 4, mRNA.	901					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell migration|intracellular signal transduction|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of mitotic cell cycle|platelet activation	cytoplasm|lamellipodium|nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|lipid kinase activity|metal ion binding|protein C-terminus binding|protein binding			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1)	25				GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)		AGAAACTGTCCCCCAAGTGGT	0.617000														87			36		0	0	0.00195071	0	0
IK	3550	broad.mit.edu	37	5	140039372	140039372	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:140039372C>T	uc003lgq.3	+	13	1337	c.1227C>T	c.(1225-1227)tcC>tcT	p.S409S	IK_uc021yen.1_Silent_p.S350S|U7_uc021yeo.1_5'Flank	NM_006083	NP_006074	Q13123	RED_HUMAN	Homo sapiens IK cytokine, down-regulator of HLA II (IK), mRNA.	409					cell-cell signaling|immune response	extracellular space|nucleus|soluble fraction				large_intestine(1)	1		all_hematologic(541;4.8e-07)|all_lung(500;0.000434)|Lung NSC(810;0.00161)|Breast(839;0.128)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGATCAAGTCCATCAATGAAA	0.478000														2			4		0	0	0.000602214	0	0
A2M	2	broad.mit.edu	37	12	9264772	9264772	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:9264772G>A	uc001qvk.1	-	3	579	c.466C>T	c.(466-468)Cac>Tac	p.H156Y	A2M_uc009zgk.1_Missense_Mutation_p.H6Y	NM_000014	NP_000005	P01023	A2MG_HUMAN	Homo sapiens alpha-2-macroglobulin (A2M), mRNA.	156					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	GTPase activator activity|enzyme binding|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)	TTCAGGGGGTGAAAGTTTTCA	0.418000														43			16		0	0	0.00121646	0	0
RXFP1	59350	broad.mit.edu	37	4	159559168	159559168	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr4:159559168C>T	uc003ipz.3	+	12	1243	c.980C>T	c.(979-981)tCc>tTc	p.S327F	RXFP1_uc010iqj.2_Missense_Mutation_p.S156F|RXFP1_uc010iqk.3_Missense_Mutation_p.S195F|RXFP1_uc011cja.2_Missense_Mutation_p.S222F|RXFP1_uc010iqo.3_Intron|RXFP1_uc011cjb.2_Intron|RXFP1_uc011cjc.2_Missense_Mutation_p.S246F|RXFP1_uc011cjd.2_Missense_Mutation_p.S246F|RXFP1_uc010iql.3_Missense_Mutation_p.S171F|RXFP1_uc011cje.2_Missense_Mutation_p.S354F|RXFP1_uc010iqm.3_Missense_Mutation_p.S294F|RXFP1_uc011cjf.2_Missense_Mutation_p.S197F|RXFP1_uc010iqn.3_Missense_Mutation_p.S273F	NM_021634	NP_067647	Q9HBX9	RXFP1_HUMAN	Homo sapiens relaxin/insulin-like family peptide receptor 1 (RXFP1), transcript variant 1, mRNA.	327						integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		AGGAATCTTTCCTATAATCCA	0.294000														34			12		0	0	0.000978159	0	0
ARHGAP39	80728	broad.mit.edu	37	8	145758632	145758632	+	Silent	SNP	T	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr8:145758632T>A	uc003zds.1	-	9	3321	c.2766A>T	c.(2764-2766)gcA>gcT	p.A922A	ARHGAP39_uc011llk.1_Silent_p.A891A|ARHGAP39_uc003zdt.1_Silent_p.A891A	NM_025251	NP_079527	Q9C0H5	RHG39_HUMAN	Homo sapiens Rho GTPase activating protein 39 (ARHGAP39), mRNA.	891	Rho-GAP.				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						CCTCCTGCAGTGCGCTGCCGA	0.647000														32			11		0	0	0.000978159	0	0
FSHR	2492	broad.mit.edu	37	2	49247283	49247283	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:49247283C>T	uc002rww.3	-	2	351	c.241G>A	c.(241-243)Gat>Aat	p.D81N	FSHR_uc010fbn.3_Missense_Mutation_p.D81N|FSHR_uc002rwx.3_Missense_Mutation_p.D81N|FSHR_uc010fbo.2_Non-coding_Transcript	NM_000145	NP_000136	P23945	FSHR_HUMAN	Homo sapiens follicle stimulating hormone receptor (FSHR), transcript variant 1, mRNA.	81					female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	TCCAAGACATCATTCTGAGAG	0.408000									Gonadal Dysgenesis, 46 XX					213			83		0	0	0.00361006	0	0
ANKS4B	257629	broad.mit.edu	37	16	21261062	21261062	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr16:21261062G>A	uc010bwp.1	+	1	218	c.175G>A	c.(175-177)Gat>Aat	p.D59N	CRYM_uc010bwq.1_Intron	NM_145865	NP_665872	Q8N8V4	ANS4B_HUMAN	Homo sapiens ankyrin repeat and sterile alpha motif domain containing 4B (ANKS4B), mRNA.	59										NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|lung(11)|ovary(2)	20				GBM - Glioblastoma multiforme(48;0.0565)		AGGGGACCCTGATAGGTGTGA	0.428000														41			23		0	0	0.000878237	0	0
DCSTAMP	81501	broad.mit.edu	37	8	105367188	105367188	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr8:105367188C>T	uc003ylx.1	+	2	1162	c.1113C>T	c.(1111-1113)ttC>ttT	p.F371F		NM_030788	NP_110415	Q9H295	TM7S4_HUMAN	Homo sapiens transmembrane 7 superfamily member 4 (TM7SF4), mRNA.	371					osteoclast differentiation	cell surface|integral to membrane|plasma membrane											AACCAAAATTCCTTCTATCTG	0.353000														57			18		0	0	0.000958276	0	0
HR	55806	broad.mit.edu	37	8	21978728	21978728	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr8:21978728G>A	uc003xas.3	-	9	2882	c.2217C>T	c.(2215-2217)tcC>tcT	p.S739S	HR_uc003xat.3_Silent_p.S739S	NM_005144	NP_005135	O43593	HAIR_HUMAN	Homo sapiens hairless homolog (mouse) (HR), transcript variant 1, mRNA.	739							DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		GGGTCTCAGCGGAATCGGGGG	0.642000														67			35		0	0	0.000953801	0	0
FAM70B	348013	broad.mit.edu	37	13	114498161	114498161	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr13:114498161C>T	uc001vuh.3	+	3	320	c.293C>T	c.(292-294)gCc>gTc	p.A98V		NM_182614	NP_872420	Q8WV15	FA70B_HUMAN	Homo sapiens family with sequence similarity 70, member B (FAM70B), mRNA.	98						integral to membrane				upper_aerodigestive_tract(1)	1	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_lung(25;0.123)|all_epithelial(44;0.133)	all cancers(43;0.181)			GGCGTGGTGGCCGCCTTCTGC	0.547000														21			22		0	0	0.000720815	0	0
E2F1	1869	broad.mit.edu	37	20	32264940	32264940	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr20:32264940G>A	uc002wzu.4	-	5	1177	c.1037C>T	c.(1036-1038)cCc>cTc	p.P346L	NECAB3_uc002wzm.4_5'Flank|NECAB3_uc002wzn.4_5'Flank|NECAB3_uc002wzo.4_5'Flank	NM_005225	NP_005216	Q01094	E2F1_HUMAN	Homo sapiens E2F transcription factor 1 (E2F1), mRNA.	346	Required for interaction with TRIM28.				G1 phase of mitotic cell cycle|G2 phase of mitotic cell cycle|apoptosis|cell proliferation|mRNA stabilization|negative regulation of transcription involved in G1/S phase of mitotic cell cycle|positive regulation of fibroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle	Rb-E2F complex|mitochondrion	sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription factor binding			NS(2)|breast(1)|endometrium(3)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	16						AGACTGGCTGGGATCTGTGGT	0.637000														29			10		0	0	0.00136819	0	0
SLC6A5	9152	broad.mit.edu	37	11	20648311	20648311	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:20648311G>A	uc001mqd.3	+	7	1591	c.1318G>A	c.(1318-1320)Gga>Aga	p.G440R	SLC6A5_uc009yic.3_Missense_Mutation_p.G205R	NM_004211	NP_004202	Q9Y345	SC6A5_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, glycine), member 5 (SLC6A5), mRNA.	440					synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	CCTCATCCGAGGAGTCACCCT	0.552000														37			28		0	0	0.00127121	0	0
MTMR4	9110	broad.mit.edu	37	17	56581722	56581722	+	Missense_Mutation	SNP	G	A	A	rs144640723		TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr17:56581722G>A	uc002iwj.2	-	12	1537	c.1427C>T	c.(1426-1428)tCt>tTt	p.S476F		NM_004687	NP_004678	Q9NYA4	MTMR4_HUMAN	Homo sapiens myotubularin related protein 4 (MTMR4), mRNA.	476	Myotubularin phosphatase.					cytoplasm|membrane	metal ion binding|protein tyrosine phosphatase activity			breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CTGATGAACAGAATCAAGCCA	0.493000														51			42		0	0	0.00195071	0	0
VWC2L	402117	broad.mit.edu	37	2	215279114	215279114	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:215279114G>A	uc002vet.2	+	1	327	c.197G>A	c.(196-198)cGa>cAa	p.R66Q	VWC2L_uc010zjl.1_Missense_Mutation_p.R66Q	NM_001080500	NP_001073969	B2RUY7	VWC2L_HUMAN	Homo sapiens von Willebrand factor C domain containing protein 2-like (VWC2L), mRNA.	66	VWFC 1.					extracellular region				breast(1)|endometrium(1)|large_intestine(3)|lung(10)|prostate(1)	16						TTGGGAGAACGATTTTTCCCT	0.458000														22			16		0	0	0.00316338	0	0
LRRTM4	80059	broad.mit.edu	37	2	76975989	76975989	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:76975989G>A	uc002snr.3	-	3	2020	c.1605C>T	c.(1603-1605)atC>atT	p.I535I	LRRTM4_uc002snq.3_Silent_p.I535I	NM_001134745	NP_001128217	Q86VH4	LRRT4_HUMAN	Homo sapiens leucine rich repeat transmembrane neuronal 4 (LRRTM4), transcript variant 1, mRNA.	535						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		GGCAGTACCCGATCACAGGCT	0.537000														32			16		0	0	0.00400662	0	0
DSG2	1829	broad.mit.edu	37	18	29102112	29102112	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr18:29102112C>T	uc002kwu.4	+	5	778	c.590C>T	c.(589-591)tCc>tTc	p.S197F		NM_001943	NP_001934	Q14126	DSG2_HUMAN	Homo sapiens desmoglein 2 (DSG2), mRNA.	197	Cadherin 2.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			TCGAAAATTTCCTATAGAATC	0.378000														34			19		0	0	0.00152264	0	0
SZT2	23334	broad.mit.edu	37	1	43909141	43909142	+	Missense_Mutation	DNP	AC	TT	TT			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:43909141_43909142AC>TT	uc001cjk.2	+	59	8531_8532	c.5921_5922AC>TT	c.(5920-5922)gac>gTT	p.D1974V	SZT2_uc001cjl.2_5'Flank	NM_015284	NP_056099	Q5T011	SZT2_HUMAN	Homo sapiens seizure threshold 2 homolog (mouse) (SZT2), mRNA.	2873						peroxisome				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						GGACCCCCTGACGGGCAGGTAA	0.614000														16			16		0	0	6.4e-05	0	0
TTN	7273	broad.mit.edu	37	2	179636071	179636071	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:179636071C>T	uc021vsy.1	-	33	8208	c.7983G>A	c.(7981-7983)ctG>ctA	p.L2661L	TTN_uc021vsz.1_Silent_p.L2615L|TTN_uc021vta.1_Silent_p.L2615L|TTN_uc021vtb.1_Silent_p.L2615L|TTN_uc002unb.2_Silent_p.L2661L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	2661	Ig-like 15.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.A2660S(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)			TGTTGTTAGTCAGTGGTAGGT	0.458000														43			20		0	0	0.00188189	0	0
NLRP8	126205	broad.mit.edu	37	19	56466865	56466865	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:56466865C>T	uc002qmh.3	+	2	1512	c.1441C>T	c.(1441-1443)Cag>Tag	p.Q481*	NLRP8_uc010etg.3_Nonsense_Mutation_p.Q481*	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	Homo sapiens NLR family, pyrin domain containing 8 (NLRP8), mRNA.	481	NACHT.					cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		CAAGCTGGATCAGACGGGAGT	0.493000														89			29		0	0	0.00127121	0	0
ARAP2	116984	broad.mit.edu	37	4	36230379	36230379	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr4:36230379G>A	uc003gsq.2	-	1	1068	c.730C>T	c.(730-732)Cca>Tca	p.P244S	ARAP2_uc003gsr.1_Missense_Mutation_p.P244S	NM_015230	NP_056045	Q8WZ64	ARAP2_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 (ARAP2), mRNA.	244					regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						TTAAAGAATGGGGATGGTGGT	0.388000														65			28		0	0	0.00209593	0	0
A2ML1	144568	broad.mit.edu	37	12	8998761	8998761	+	Silent	SNP	T	C	C			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:8998761T>C	uc001quz.4	+	13	1724	c.1626T>C	c.(1624-1626)agT>agC	p.S542S	A2ML1_uc001qva.1_Silent_p.S122S|A2ML1_uc010sgm.2_Silent_p.S42S	NM_144670	NP_653271	B3KVV6	B3KVV6_HUMAN	Homo sapiens alpha-2-macroglobulin-like 1 (A2ML1), mRNA.	386						extracellular space	endopeptidase inhibitor activity	p.S542G(1)		NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						TTTTTCCCAGTGGAGGTGTTG	0.463000														67			37		0	0	0.00428921	0	0
EMBP1	647121	broad.mit.edu	37	1	121298369	121298369	+	RNA	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:121298369C>T	uc001eiu.1	+	1		c.410C>T								Homo sapiens embigin pseudogene 1 (EMBP1), non-coding RNA.																		ATGTAAATCTCACATGCCAGT	0.348000														69			50		0	0	0.00361006	0	0
SEPN1	57190	broad.mit.edu	37	1	26138011	26138011	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:26138011C>T	uc021ojk.1	+	7	1132	c.1077C>T	c.(1075-1077)atC>atT	p.I359I	SEPN1_uc021ojl.1_Silent_p.I325I	NM_020451	NP_065184	Q9NZV5	SELN_HUMAN	Homo sapiens selenoprotein N, 1 (SEPN1), transcript variant 1, mRNA.	359						endoplasmic reticulum membrane|extracellular region	protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0421)|OV - Ovarian serous cystadenocarcinoma(117;1.26e-25)|Colorectal(126;3.01e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0143)|READ - Rectum adenocarcinoma(331;0.0649)		AGGTGGACATCGGCTACATAC	0.607000											OREG0013258	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		168			47		0	0	0.00361006	0	0
INTS9	55756	broad.mit.edu	37	8	28625707	28625707	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr8:28625707C>T	uc003xha.3	-	16	2232	c.1933G>A	c.(1933-1935)Gtg>Atg	p.V645M	INTS9_uc011lav.2_Missense_Mutation_p.V621M|INTS9_uc011law.2_Missense_Mutation_p.V624M|INTS9_uc011lax.2_Missense_Mutation_p.V538M|INTS9_uc010lvc.3_Non-coding_Transcript	NM_018250	NP_001166033	Q9NV88	INT9_HUMAN	Homo sapiens integrator complex subunit 9 (INTS9), transcript variant 1, mRNA.	645					snRNA processing	integrator complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(2)	19		Ovarian(32;0.0439)		KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.152)		CGCAGTCGCACTCTGAGCATC	0.537000														130			65		0	0	0.00361006	0	0
TPO	7173	broad.mit.edu	37	2	1457514	1457514	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:1457514C>T	uc002qwr.3	+	5	617	c.531C>T	c.(529-531)ctC>ctT	p.L177L	TPO_uc010ewj.3_Intron|TPO_uc002qww.3_Silent_p.L177L|TPO_uc002qwx.3_Silent_p.L177L|TPO_uc002qwu.3_Silent_p.L177L|TPO_uc010yio.2_Silent_p.L177L|TPO_uc010yip.2_Silent_p.L177L	NM_001206744	NP_001193673	P07202	PERT_HUMAN	Homo sapiens thyroid peroxidase (TPO), transcript variant 6, mRNA.	177					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	CACGATGGCTCCCTCCAGTCT	0.597000														60			27		0	0	0.000878237	0	0
RGPD4	285190	broad.mit.edu	37	2	108487530	108487530	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:108487530G>A	uc010ywk.2	+	19	3152	c.3070G>A	c.(3070-3072)Gat>Aat	p.D1024N	RGPD4_uc002tdu.3_Missense_Mutation_p.D211N|RGPD4_uc010ywl.2_Non-coding_Transcript	NM_182588	NP_872394	Q7Z3J3	RGPD4_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 4 (RGPD4), mRNA.	1024					intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						CTTTGAGAAAGATGATGATGC	0.398000														222			109		0	0	0.00361006	0	0
CNTNAP2	26047	broad.mit.edu	37	7	147336289	147336289	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:147336289C>T	uc003weu.2	+	12	2505	c.1989C>T	c.(1987-1989)ctC>ctT	p.L663L		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	663	Fibrinogen C-terminal.				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)			TGACACAGCTCGTTTACAGCG	0.498000										HNSCC(39;0.1)				61			28		0	0	0.00106085	0	0
TLR10	81793	broad.mit.edu	37	4	38774794	38774794	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr4:38774794C>T	uc003gtj.3	-	3	3056	c.2418G>A	c.(2416-2418)atG>atA	p.M806I	TLR10_uc021xnk.1_Missense_Mutation_p.M792I|TLR10_uc003gti.3_Missense_Mutation_p.M806I|TLR10_uc021xnl.1_Missense_Mutation_p.M806I|TLR10_uc003gtk.3_Missense_Mutation_p.M806I|TLR10_uc021xnm.1_Missense_Mutation_p.M806I	NM_030956	NP_001182037	Q9BXR5	TLR10_HUMAN	Homo sapiens toll-like receptor 10 (TLR10), transcript variant 1, mRNA.	806					MyD88-dependent toll-like receptor signaling pathway|inflammatory response|innate immune response	integral to membrane|plasma membrane	transmembrane receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2)	25						AATCTGTTCTCATCAGAGAGA	0.393000														34			21		0	0	0.00332997	0	0
AOC2	314	broad.mit.edu	37	17	40997478	40997478	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr17:40997478C>T	uc002ibu.3	+	0	870	c.835C>T	c.(835-837)Cgg>Tgg	p.R279W	AOC2_uc002ibt.3_Missense_Mutation_p.R279W	NM_009590	NP_033720	O75106	AOC2_HUMAN	Homo sapiens amine oxidase, copper containing 2 (retina-specific) (AOC2), transcript variant 2, mRNA.	279					catecholamine metabolic process|visual perception	cytoplasm|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|electron carrier activity|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(14)|ovary(4)|skin(2)	30		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)		TAAGTCTGGCCGGTTGGAAGT	0.577000														51			34		0	0	0.00283554	0	0
HYAL4	23553	broad.mit.edu	37	7	123509272	123509272	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:123509272C>T	uc003vlc.3	+	2	1583	c.945C>T	c.(943-945)ttC>ttT	p.F315F	HYAL4_uc011knz.2_Silent_p.F315F	NM_012269	NP_036401	Q2M3T9	HYAL4_HUMAN	Homo sapiens hyaluronoglucosaminidase 4 (HYAL4), mRNA.	315					fusion of sperm to egg plasma membrane|glycosaminoglycan catabolic process	integral to membrane	hyalurononglucosaminidase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	23						CTTTATTTTTCCTTTCTAAGG	0.378000														16			7		0	0	0.00198382	0	0
TRPC4	7223	broad.mit.edu	37	13	38357408	38357408	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr13:38357408C>T	uc010abx.3	-	1	298	c.63G>A	c.(61-63)agG>agA	p.R21R	TRPC4_uc010abv.3_5'UTR|TRPC4_uc001uwt.3_Silent_p.R21R|TRPC4_uc001uws.3_Silent_p.R21R|TRPC4_uc010tey.2_Silent_p.R21R|TRPC4_uc010abw.3_Silent_p.R21R|TRPC4_uc010aby.3_Silent_p.R21R	NM_003306	NP_003297	Q9UBN4	TRPC4_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 4 (TRPC4), transcript variant epsilon, mRNA.	21					axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		CTCTTACTATCCTTAGAGGGA	0.418000														87			39		0	0	0.00128727	0	0
AKR1C3	8644	broad.mit.edu	37	10	5014477	5014477	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr10:5014477C>T	uc001iho.3	+	10	1496	c.655C>T	c.(655-657)Ctg>Ttg	p.L219L	AKR1C3_uc001ihr.3_Intron|AKR1C3_uc001ihq.3_Silent_p.L219L	NM_001353	NP_001344	P42330	AK1C3_HUMAN	Homo sapiens aldo-keto reductase family 1, member C1 (dihydrodiol dehydrogenase 1; 20-alpha (3-alpha)-hydroxysteroid dehydrogenase) (AKR1C1), mRNA.	219					prostaglandin metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|androsterone dehydrogenase (A-specific) activity|indanol dehydrogenase activity|prostaglandin-F synthase activity|testosterone 17-beta-dehydrogenase (NAD+) activity|testosterone 17-beta-dehydrogenase (NADP+) activity|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|skin(1)	14					Dimethyl sulfoxide(DB01093)|NADH(DB00157)	CTATAGTGCTCTGGGATCCCA	0.408000														42			20		0	0	0.00188189	0	0
PXDNL	137902	broad.mit.edu	37	8	52359645	52359645	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr8:52359645C>T	uc003xqu.4	-	11	1545	c.1444G>A	c.(1444-1446)Gat>Aat	p.D482N		NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	Homo sapiens peroxidasin homolog (Drosophila)-like (PXDNL), mRNA.	482	Ig-like C2-type 3.				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				TGGCCTTGATCGTGCTGTGCT	0.473000														98			41		0	0	0.00361006	0	0
KLF17	128209	broad.mit.edu	37	1	44595472	44595472	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:44595472G>A	uc001clp.3	+	1	587	c.529G>A	c.(529-531)Gtg>Atg	p.V177M	KLF17_uc009vxf.1_Missense_Mutation_p.V140M	NM_173484	NP_775755	Q5JT82	KLF17_HUMAN	Homo sapiens Kruppel-like factor 17 (KLF17), mRNA.	177					regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(1)|lung(6)|ovary(3)|prostate(1)|skin(2)|stomach(1)	18	Acute lymphoblastic leukemia(166;0.155)					GAACCCTCCAGTGCCTTACCC	0.597000														36			27		0	0	0.00127121	0	0
ZBBX	79740	broad.mit.edu	37	3	167051674	167051674	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:167051674C>T	uc011bpc.2	-	9	965	c.628G>A	c.(628-630)Gaa>Aaa	p.E210K	ZBBX_uc003feq.3_Missense_Mutation_p.E181K|ZBBX_uc003fep.3_Missense_Mutation_p.E210K	NM_001199201	NP_001186130	A8MT70	ZBBX_HUMAN	Homo sapiens zinc finger, B-box domain containing (ZBBX), transcript variant 1, mRNA.	210						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						TTACTGGTTTCCTTTGTAGAA	0.348000														49			30		0	0	0.00127121	0	0
UBA1	7317	broad.mit.edu	37	X	47065788	47065788	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chrX:47065788C>T	uc004dhj.4	+	15	2034	c.1883C>T	c.(1882-1884)tCc>tTc	p.S628F	UBA1_uc004dhk.4_Missense_Mutation_p.S628F|UBA1_uc004dhm.3_5'Flank	NM_153280	NP_695012	P22314	UBA1_HUMAN	Homo sapiens ubiquitin-like modifier activating enzyme 1 (UBA1), transcript variant 2, mRNA.	628					cell death|protein modification process		ATP binding|ligase activity|protein binding|small protein activating enzyme activity			breast(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						CCTGAGAAGTCCATCCCCATC	0.572000														12			11		0	0	0.00185496	0	0
RGAG1	57529	broad.mit.edu	37	X	109696331	109696331	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chrX:109696331G>A	uc004eor.2	+	2	2732	c.2486G>A	c.(2485-2487)gGa>gAa	p.G829E	RGAG1_uc011msr.1_Missense_Mutation_p.G829E	NM_020769	NP_065820	Q8NET4	RGAG1_HUMAN	Homo sapiens retrotransposon gag domain containing 1 (RGAG1), mRNA.	829										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						ACAGCCTCTGGAATGATGTCA	0.537000														31			66		0	0	0.00361006	0	0
FAM46D	169966	broad.mit.edu	37	X	79698500	79698500	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chrX:79698500G>A	uc022bzm.1	+	0	462	c.462G>A	c.(460-462)ggG>ggA	p.G154G	FAM46D_uc004edl.1_Silent_p.G154G|FAM46D_uc004edm.2_Silent_p.G154G	NM_152630	NP_689843	Q8NEK8	FA46D_HUMAN	Homo sapiens family with sequence similarity 46, member D (FAM46D), transcript variant 2, mRNA.	154										kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23						ATAACACTGGGAAGAATTTAG	0.378000														22			28		0	0	0.00106085	0	0
CYP4F22	126410	broad.mit.edu	37	19	15648426	15648426	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:15648426C>T	uc002nbh.4	+	5	669	c.502C>T	c.(502-504)Ctg>Ttg	p.L168L		NM_173483	NP_775754	Q6NT55	CP4FN_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 22 (CYP4F22), mRNA.	168						endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			endometrium(6)|large_intestine(9)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	37						CTTTGACATCCTGAAGCCTTA	0.567000														66			24		0	0	0.00278032	0	0
FRAS1	80144	broad.mit.edu	37	4	79462122	79462122	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr4:79462122G>A	uc003hlb.2	+	73	12323	c.11883G>A	c.(11881-11883)cgG>cgA	p.R3961R		NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	3956					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						ACCCGGACCGGGTGGAGAAGA	0.502000														69			16		0	0	0.000566183	0	0
SEC14L1	6397	broad.mit.edu	37	17	75186987	75186987	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr17:75186987G>A	uc010dhc.3	+	3	486	c.166G>A	c.(166-168)Gaa>Aaa	p.E56K	SEC14L1_uc021udv.1_Missense_Mutation_p.E56K|SEC14L1_uc021udw.1_Missense_Mutation_p.E56K|SEC14L1_uc021udx.1_Missense_Mutation_p.E56K|SEC14L1_uc002jto.3_Missense_Mutation_p.E56K|SEC14L1_uc010wth.2_Missense_Mutation_p.E56K|SEC14L1_uc002jtm.3_Missense_Mutation_p.E56K|SEC14L1_uc010wti.2_Missense_Mutation_p.E22K	NM_001039573	NP_001191337	Q92503	S14L1_HUMAN	Homo sapiens SEC14-like 1 (S. cerevisiae) (SEC14L1), transcript variant 2, mRNA.	56	PRELI/MSF1.				transport	Golgi apparatus|integral to membrane	binding			NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2)	31						TCATGTCATTGAAAGGCGCTG	0.512000														90			29		0	0	0.0024448	0	0
ITGA10	8515	broad.mit.edu	37	1	145539751	145539751	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:145539751C>T	uc001eoa.3	+	26	3259	c.3183C>T	c.(3181-3183)gtC>gtT	p.V1061V	ITGA10_uc010oyv.2_Silent_p.V930V|ITGA10_uc009wiw.3_Silent_p.V918V|ITGA10_uc010oyw.2_Intron	NM_003637	NP_003628	O75578	ITA10_HUMAN	Homo sapiens integrin, alpha 10 (ITGA10), mRNA.	1061					cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GGACTGAGGTCTCTGTTGGAC	0.488000														24			14		0	0	0.00316338	0	0
STXBP1	6812	broad.mit.edu	37	9	130425628	130425628	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr9:130425628C>T	uc004brk.2	+	6	771	c.574C>T	c.(574-576)Cgg>Tgg	p.R192W	STXBP1_uc004brl.2_Missense_Mutation_p.R192W	NM_003165	NP_003156	P61764	STXB1_HUMAN	Homo sapiens syntaxin binding protein 1 (STXBP1), transcript variant 1, mRNA.	192					axon target recognition|energy reserve metabolic process|glutamate secretion|negative regulation of synaptic transmission, GABAergic|neurotransmitter secretion|platelet aggregation|platelet degranulation|protein transport|regulation of insulin secretion|regulation of synaptic vesicle priming|synaptic vesicle maturation|vesicle docking involved in exocytosis	cytosol|mitochondrion|plasma membrane|platelet alpha granule|protein complex	identical protein binding|syntaxin-1 binding|syntaxin-2 binding	p.R192W(3)		breast(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|skin(2)	23						TGTGCGGTATCGGGGGTAAGG	0.612000														60			13		0	0	0.00136819	0	0
ZFHX4	79776	broad.mit.edu	37	8	77761885	77761885	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr8:77761885C>T	uc003yau.2	+	7	4170	c.3783C>T	c.(3781-3783)ctC>ctT	p.L1261L	ZFHX4_uc003yaw.1_Silent_p.L1216L	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	1216						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AAATGCATCTCCAACTGCATC	0.483000										HNSCC(33;0.089)				35			8		0	0	0.000274275	0	0
GABRG1	2565	broad.mit.edu	37	4	46067418	46067418	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr4:46067418G>A	uc003gxb.3	-	3	657	c.505C>T	c.(505-507)Cga>Tga	p.R169*		NM_173536	NP_775807	Q8N1C3	GBRG1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, gamma 1 (GABRG1), mRNA.	169					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	p.R169*(2)		breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		TTCCAAATTCGAAGCAGACGA	0.323000														59			21		0	0	0.00278032	0	0
ANKS1A	23294	broad.mit.edu	37	6	34949646	34949646	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:34949646C>T	uc003ojx.4	+	3	757	c.615C>T	c.(613-615)caC>caT	p.H205H	ANKS1A_uc011dst.2_5'UTR|ANKS1A_uc010jvp.2_5'UTR|ANKS1A_uc010jvr.1_Non-coding_Transcript	NM_015245	NP_056060	Q92625	ANS1A_HUMAN	Homo sapiens ankyrin repeat and sterile alpha motif domain containing 1A (ANKS1A), mRNA.	205						cytoplasm	protein binding			cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						TTAATGCACACCCCAACCTCC	0.572000														85			29		0	0	0.001512	0	0
VPS16	64601	broad.mit.edu	37	20	2843460	2843460	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr20:2843460C>T	uc002whe.3	+	12	1259	c.1211C>T	c.(1210-1212)tCc>tTc	p.S404F	PTPRA_uc002whj.3_5'Flank|VPS16_uc002whf.3_Intron|VPS16_uc002whg.3_Missense_Mutation_p.S90F	NM_022575	NP_072097	Q9H269	VPS16_HUMAN	Homo sapiens vacuolar protein sorting 16 homolog (S. cerevisiae) (VPS16), transcript variant 1, mRNA.	404					intracellular protein transport	HOPS complex|early endosome|late endosome membrane|lysosomal membrane|recycling endosome				NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	37						CAGGCCGCCTCCTTCGGAAAG	0.632000														84			46		0	0	0.00361006	0	0
MUC16	94025	broad.mit.edu	37	19	9077276	9077276	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:9077276G>A	uc002mkp.3	-	2	10374	c.10170C>T	c.(10168-10170)acC>acT	p.T3390T		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	3391	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						CCCATGTCTCGGTTTTATGTT	0.443000														167			70		0	0	0.00361006	0	0
SELE	6401	broad.mit.edu	37	1	169697258	169697258	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:169697258G>A	uc001ggm.4	-	7	1377	c.1220C>T	c.(1219-1221)tCc>tTc	p.S407F	C1orf112_uc001ggj.3_Intron	NM_000450	NP_000441	P16581	LYAM2_HUMAN	Homo sapiens selectin E (SELE), mRNA.	407	Sushi 4.				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)					GAGCCTTTTGGATCCCTTCAA	0.463000														82			34		0	0	0.000953801	0	0
PLA2G6	8398	broad.mit.edu	37	22	38508283	38508284	+	Missense_Mutation	DNP	AT	CA	CA			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr22:38508283_38508284AT>CA	uc003auy.1	-	16	2441_2442	c.2305_2306AT>TG	c.(2305-2307)atg>TGg	p.M769W	PLA2G6_uc003auz.1_Missense_Mutation_p.M715W|PLA2G6_uc003ava.1_Missense_Mutation_p.M769W|PLA2G6_uc003avb.2_Missense_Mutation_p.M715W|BAIAP2L2_uc003auw.3_5'Flank|PLA2G6_uc003aux.1_Missense_Mutation_p.H160L	NM_003560	NP_003551	O60733	PA2G6_HUMAN	Homo sapiens phospholipase A2, group VI (cytosolic, calcium-independent) (PLA2G6), transcript variant 1, mRNA.	769					cardiolipin biosynthetic process|cell death|lipid catabolic process	centrosome|membrane				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	24	Melanoma(58;0.045)				Quinacrine(DB01103)	CTCATCCAGCATGATGTCCGTC	0.619000														12			5		0	0	6.4e-05	0	0
DNMT1	1786	broad.mit.edu	37	19	10246816	10246816	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:10246816G>A	uc002mng.3	-	36	4769	c.4589C>T	c.(4588-4590)cCc>cTc	p.P1530L	DNMT1_uc002mnf.3_Missense_Mutation_p.P454L|DNMT1_uc010xlc.2_Missense_Mutation_p.P1546L|DNMT1_uc002mnh.3_Missense_Mutation_p.P1425L|DNMT1_uc010xld.2_Missense_Mutation_p.P1533L	NM_001379	NP_001370	P26358	DNMT1_HUMAN	Homo sapiens DNA (cytosine-5-)-methyltransferase 1 (DNMT1), transcript variant 2, mRNA.	1530	Catalytic.|Interaction with the PRC2/EED-EZH2 complex (By similarity).				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding	p.P1530L(2)		breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)	CATGGGCTCGGGGTTGGTGAC	0.652000														29			7		0	0	0.000274275	0	0
PHC3	80012	broad.mit.edu	37	3	169824618	169824618	+	Splice_Site	SNP	A	G	G			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:169824618A>G	uc003fgl.2	-	12	2502	c.2468_splice	c.e12+1	p.R823_splice	PHC3_uc010hws.1_Splice_Site_p.R811_splice|PHC3_uc011bpq.1_Splice_Site_p.R770_splice	NM_024947	NP_079223	Q8NDX5	PHC3_HUMAN	Homo sapiens polyhomeotic homolog 3 (Drosophila) (PHC3), mRNA.	811					multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2)	26	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			GCACAGAAATACCTTTTGGCA	0.373000														30			14		0	0	0.00185496	0	0
SYNE2	23224	broad.mit.edu	37	14	64588807	64588807	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr14:64588807G>A	uc001xgl.3	+	68	13466	c.13236G>A	c.(13234-13236)caG>caA	p.Q4412Q	SYNE2_uc001xgm.3_Silent_p.Q4412Q|SYNE2_uc021ruh.1_Silent_p.Q4427Q|SYNE2_uc010apy.3_Silent_p.Q797Q|SYNE2_uc010apz.1_Silent_p.Q304Q	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA.	4412					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	SUN-KASH complex|Z disc|cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TGTGGCCCCAGTATTGCCAAC	0.333000														23			32		0	0	0.00178596	0	0
PRR16	51334	broad.mit.edu	37	5	120022286	120022286	+	Missense_Mutation	SNP	G	A	A	rs148660943		TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:120022286G>A	uc003ksq.3	+	1	960	c.797G>A	c.(796-798)gGa>gAa	p.G266E	PRR16_uc003ksp.3_Missense_Mutation_p.G243E|PRR16_uc003ksr.3_Missense_Mutation_p.G196E	NM_016644	NP_057728	Q569H4	PRR16_HUMAN	Homo sapiens proline rich 16 (PRR16), mRNA.	266	Pro-rich.									endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0464)|Prostate(80;0.00446)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169)		GAAAATGGGGGAATGGGAATA	0.542000														26			11		0	0	0.00136819	0	0
PLEKHO2	80301	broad.mit.edu	37	15	65157146	65157146	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr15:65157146C>T	uc002anv.3	+	5	666	c.532C>T	c.(532-534)Ccg>Tcg	p.P178S	PLEKHO2_uc002anw.3_Missense_Mutation_p.P128S	NM_025201	NP_079477	Q8TD55	PKHO2_HUMAN	Homo sapiens pleckstrin homology domain containing, family O member 2 (PLEKHO2), transcript variant 1, mRNA.	178	Pro-rich.									NS(1)|breast(1)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25						TCTTGATGTTCCGGACAGTGG	0.592000														38			54		0	0	0.00361006	0	0
KRTAP12-1	353332	broad.mit.edu	37	21	46101782	46101782	+	Missense_Mutation	SNP	C	T	T	rs138110019		TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr21:46101782C>T	uc002zfv.3	-	0	297	c.257G>A	c.(256-258)aGa>aAa	p.R86K	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_181686	NP_859014	P59990	KR121_HUMAN	Homo sapiens keratin associated protein 12-1 (KRTAP12-1), mRNA.	86	14 X 5 AA approximate repeats.					keratin filament		p.R86K(2)		kidney(1)|large_intestine(1)|lung(1)|skin(2)	5						GGAGATGGGTCTGCAGAGGAC	0.637000														39			8		0	0	0.00307968	0	0
DNAH8	1769	broad.mit.edu	37	6	38994366	38994366	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:38994366G>A	uc021yzh.1	+	91	13868	c.13759G>A	c.(13759-13761)Ggc>Agc	p.G4587S	DNAH8_uc003ooe.2_Missense_Mutation_p.G4370S	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TGCCCACAAAGGCTGGGCACT	0.493000														39			20		0	0	0.00188189	0	0
EDEM1	9695	broad.mit.edu	37	3	5229907	5229907	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:5229907C>T	uc003bqi.3	+	0	549	c.417C>T	c.(415-417)gtC>gtT	p.V139V	EDEM1_uc011asz.1_5'UTR|EDEM1_uc021wsl.1_5'Flank	NM_014674	NP_055489	Q92611	EDEM1_HUMAN	Homo sapiens ER degradation enhancer, mannosidase alpha-like 1 (EDEM1), mRNA.	139					ER-associated protein catabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding|response to unfolded protein	integral to endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22				Epithelial(13;0.0588)|OV - Ovarian serous cystadenocarcinoma(96;0.0682)		GCATGTTCGTCTTTGGCTACG	0.701000														2			4		0	0	0.000602214	0	0
NOP10	55505	broad.mit.edu	37	15	34635360	34635361	+	Splice_Site	DNP	CC	TT	TT			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr15:34635360_34635361CC>TT	uc001zie.1	-	1	1	c.-87_splice	c.e1-1		C15orf55_uc010ucc.2_5'Flank|C15orf55_uc010ucd.2_5'Flank|C15orf55_uc001zif.3_5'Flank	NM_018648	NP_061118	Q9NPE3	NOP10_HUMAN	Homo sapiens NOP10 ribonucleoprotein homolog (yeast) (NOP10), mRNA.						pseudouridine synthesis|rRNA processing	Cajal body|nucleolus|small nucleolar ribonucleoprotein complex	protein binding			lung(1)|ovary(1)	2						TCGTCAATTTCCTTCCTGCATA	0.540000											OREG0023034	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		4			4		0	0	6.4e-05	0	0
AZGP1	563	broad.mit.edu	37	7	99566050	99566050	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:99566050G>A	uc003ush.3	-	2	433	c.341C>T	c.(340-342)tCt>tTt	p.S114F		NM_001185	NP_001176	P25311	ZA2G_HUMAN	Homo sapiens alpha-2-glycoprotein 1, zinc-binding (AZGP1), mRNA.	114					antigen processing and presentation|cell adhesion|immune response|lipid catabolic process|negative regulation of cell proliferation	MHC class I protein complex|extracellular region	fatty acid binding|protein transmembrane transporter activity|ribonuclease activity	p.G113R(2)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|stomach(1)	16	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					CAATACGTGAGACCCTGAAAA	0.433000														190			76		0	0	0.00361006	0	0
TLR4	7099	broad.mit.edu	37	9	120470924	120470925	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr9:120470924_120470925GG>AA	uc004bjz.3	+	1	468_469	c.177_178GG>AA	c.(175-180)ctggac>ctAAac	p.D60N	TLR4_uc004bkb.3_Intron|TLR4_uc004bka.3_Missense_Mutation_p.D20N	NM_138554	NP_612564	O00206	TLR4_HUMAN	Homo sapiens toll-like receptor 4 (TLR4), transcript variant 1, mRNA.	60					I-kappaB phosphorylation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T-helper 1 type immune response|Toll signaling pathway|activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|innate immune response|intestinal epithelial structure maintenance|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity	p.D60E(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						CCAAGAACCTGGACCTGAGCTT	0.431000														88			99		0	0	6.4e-05	0	0
CNTNAP3B	728577	broad.mit.edu	37	9	43828092	43828092	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr9:43828092G>A	uc004ada.2	+	8	1758	c.1348G>A	c.(1348-1350)Gat>Aat	p.D450N	CNTNAP3B_uc004acz.2_Non-coding_Transcript	NM_001201380	NP_001188309	Q96NU0	CNT3B_HUMAN	Homo sapiens contactin associated protein-like 3B (CNTNAP3B), mRNA.	450	Laminin G-like 2.				cell adhesion|signal transduction	integral to membrane	receptor binding			central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3)	10						TGGATTAAACGATGGGCAGTG	0.448000														74			33		0	0	0.00111076	0	0
ROBO4	54538	broad.mit.edu	37	11	124766556	124766556	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:124766556C>T	uc001qbg.3	-	2	551	c.411G>A	c.(409-411)gaG>gaA	p.E137E	ROBO4_uc010sas.2_5'UTR|ROBO4_uc001qbh.2_Silent_p.E27E|ROBO4_uc001qbi.3_5'Flank|ROBO4_uc010sat.1_5'Flank	NM_019055	NP_061928	Q8WZ75	ROBO4_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 4 (Drosophila) (ROBO4), mRNA.	137	Ig-like C2-type 2.				angiogenesis|cell differentiation	integral to membrane	receptor activity	p.R136L(1)		NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		TCTGGAAATCCTCCCGGAGGA	0.612000														6			4		0	0	0.00116845	0	0
PPP2CB	5516	broad.mit.edu	37	8	30655114	30655114	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr8:30655114C>T	uc003xik.3	-	2	884	c.469G>A	c.(469-471)Gct>Act	p.A157T		NM_001009552	NP_001009552	P62714	PP2AB_HUMAN	Homo sapiens protein phosphatase 2, catalytic subunit, beta isozyme (PPP2CB), mRNA.	157					protein dephosphorylation	chromosome, centromeric region|cytoplasm|nucleus|protein phosphatase type 2A complex|spindle pole	metal ion binding			breast(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	9				KIRC - Kidney renal clear cell carcinoma(542;0.095)|Kidney(114;0.114)	Vitamin E(DB00163)	TCTACTAAAGCTGTAAGTGGA	0.383000														47			16		0	0	0.000958276	0	0
KIF2B	84643	broad.mit.edu	37	17	51900950	51900950	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr17:51900950G>A	uc002iua.2	+	0	712	c.556G>A	c.(556-558)Gaa>Aaa	p.E186K	KIF2B_uc010wna.1_Non-coding_Transcript	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN	Homo sapiens kinesin family member 2B (KIF2B), mRNA.	186					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						CCCCAACTACGAAATCATGCA	0.567000														72			8		0	0	0.00307968	0	0
GOLGA3	2802	broad.mit.edu	37	12	133393269	133393269	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:133393269G>A	uc001ukz.1	-	2	822	c.263C>T	c.(262-264)cCa>cTa	p.P88L	GOLGA3_uc021rgt.1_Non-coding_Transcript|GOLGA3_uc001ula.1_Missense_Mutation_p.P88L|GOLGA3_uc001ulb.3_Missense_Mutation_p.P88L	NM_005895	NP_005886	Q08378	GOGA3_HUMAN	Homo sapiens golgin A3 (GOLGA3), transcript variant 1, mRNA.	88	Pro-rich.				intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		AGGGCCCACTGGGCTTGTGGT	0.597000														45			17		0	0	0.00229938	0	0
FCGBP	8857	broad.mit.edu	37	19	40380328	40380328	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:40380328T>A	uc002omp.4	-	22	10995	c.10987A>T	c.(10987-10989)Acc>Tcc	p.T3663S		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	3663	VWFD 9.					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)			TCGAAGGTGGTGTAGTGGGGA	0.677000														23			12		0	0	0.00136819	0	0
MRC2	9902	broad.mit.edu	37	17	60741970	60741970	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr17:60741970G>A	uc002jad.3	+	1	582	c.180G>A	c.(178-180)ggG>ggA	p.G60G	Y_RNA_uc021ubi.1_5'Flank	NM_006039	NP_006030	Q9UBG0	MRC2_HUMAN	Homo sapiens mannose receptor, C type 2 (MRC2), mRNA.	60	Ricin B-type lectin.				endocytosis	integral to membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						CCCAGGGCGGGCAGGTCAGAG	0.622000														70			22		0	0	0.00229938	0	0
BCR	613	broad.mit.edu	37	22	23524071	23524071	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr22:23524071C>T	uc002zww.3	+	0	1520	c.924C>T	c.(922-924)cgC>cgT	p.R308R	BCR_uc002zwx.3_Silent_p.R308R	NM_004327	NP_004318	P11274	BCR_HUMAN	Homo sapiens breakpoint cluster region (BCR), transcript variant 1, mRNA.	308	Binding to ABL SH2-domain.|Kinase.				regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	ATP binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|protein serine/threonine kinase activity	p.R308L(1)	BCR/JAK2(6)	central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	35						AGGAGAAGCGCCTTACCTGGC	0.642000			T	"""ABL1,  FGFR1, JAK2 """	"""CML, ALL, AML"""									19			10		0	0	0.000673444	0	0
DCHS2	54798	broad.mit.edu	37	4	155242369	155242369	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr4:155242369G>A	uc003inw.2	-	13	2817	c.2817C>T	c.(2815-2817)atC>atT	p.I939I		NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	Homo sapiens dachsous 2 (Drosophila) (DCHS2), transcript variant 1, mRNA.	939	Cadherin 7.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TGGATAGTGGGATCACCTGAA	0.284000														24			21		0	0	0.00332997	0	0
KIF2C	11004	broad.mit.edu	37	1	45226020	45226020	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:45226020G>A	uc001cmg.4	+	14	1551	c.1436G>A	c.(1435-1437)cGa>cAa	p.R479Q	KIF2C_uc010olb.2_Missense_Mutation_p.R438Q|KIF2C_uc010olc.2_Missense_Mutation_p.R366Q|KIF2C_uc001cmh.4_Missense_Mutation_p.R425Q	NM_006845	NP_006836	Q99661	KIF2C_HUMAN	Homo sapiens kinesin family member 2C (KIF2C), mRNA.	479	Kinesin-motor.				blood coagulation|cell division|cell proliferation|chromosome segregation|establishment or maintenance of microtubule cytoskeleton polarity|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|kinesin complex|microtubule|nucleus	ATP binding|centromeric DNA binding|microtubule motor activity|microtubule plus-end binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(1)|skin(1)|urinary_tract(1)	34	Acute lymphoblastic leukemia(166;0.155)					ATTATTCTTCGAGCTAAAGGG	0.527000														47			25		0	0	0.000878237	0	0
NEUROD4	58158	broad.mit.edu	37	12	55420485	55420485	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:55420485C>T	uc001sgp.4	+	1	640	c.262C>T	c.(262-264)Cga>Tga	p.R88*	NEUROD4_uc021qyr.1_Nonsense_Mutation_p.R88*	NM_021191	NP_067014	Q9HD90	NDF4_HUMAN	Homo sapiens neurogenic differentiation 4 (NEUROD4), mRNA.	88					amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.R88*(4)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	41						ATTCAGGGCTCGAAGAGTCAA	0.507000														37			12		0	0	0.00136819	0	0
CTCF	10664	broad.mit.edu	37	16	67662404	67662404	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr16:67662404C>T	uc002etl.3	+	8	2094	c.1650C>T	c.(1648-1650)ttC>ttT	p.F550F	CTCF_uc010cek.3_Silent_p.F222F|CTCF_uc002etm.1_Silent_p.F39F	NM_006565	NP_001177951	P49711	CTCF_HUMAN	Homo sapiens CCCTC-binding factor (zinc finger protein) (CTCF), transcript variant 1, mRNA.	550					chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic	chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm	chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding			breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		ACCCCAACTTCGTCCCTGCGG	0.502000														88			42		0	0	0.00361006	0	0
C7orf29	113763	broad.mit.edu	37	7	150027858	150027858	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:150027858C>T	uc003wgy.3	+	0	921	c.365C>T	c.(364-366)cCc>cTc	p.P122L	LRRC61_uc003wgv.3_Intron|LRRC61_uc003wgx.3_Intron|LRRC61_uc003wgw.3_Intron	NM_138434	NP_612443	Q96FA7	CG029_HUMAN	Homo sapiens chromosome 7 open reading frame 29 (C7orf29), mRNA.	122										endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)	9			OV - Ovarian serous cystadenocarcinoma(82;0.011)			TCCCCAAGTCCCCTGCAAAGC	0.607000														29			13		0	0	0.00316338	0	0
EPB41L2	2037	broad.mit.edu	37	6	131191166	131191166	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:131191166G>A	uc003qch.2	-	14	2326	c.2144C>T	c.(2143-2145)tCa>tTa	p.S715L	EPB41L2_uc003qce.1_Missense_Mutation_p.S93L|EPB41L2_uc003qcf.1_Intron|EPB41L2_uc010kfl.2_Missense_Mutation_p.S645L|EPB41L2_uc003qcg.1_Intron|EPB41L2_uc003qci.3_Missense_Mutation_p.S645L|EPB41L2_uc011eby.2_Intron|EPB41L2_uc010kfk.2_Intron|EPB41L2_uc003qcd.1_5'Flank|EPB41L2_uc003qcj.1_Missense_Mutation_p.S112L	NM_001431	NP_001422	O43491	E41L2_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1-like 2 (EPB41L2), transcript variant 1, mRNA.	715					cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		ACTCCCAGGTGATATCTCTTT	0.488000														26			6		0	0	0.00116845	0	0
ODZ4	26011	broad.mit.edu	37	11	78412733	78412733	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:78412733A>G	uc001ozl.4	-	27	5388	c.4925T>C	c.(4924-4926)cTg>cCg	p.L1642P		NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 4 (Drosophila) (ODZ4), mRNA.	1642					signal transduction	integral to membrane				breast(4)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(45)|ovary(3)|pancreas(2)|prostate(4)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						TGGGACCACCAGCCAGAGGGG	0.547000														18			11		0	0	0.00136819	0	0
PRB3	5544	broad.mit.edu	37	12	11420974	11420975	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:11420974_11420975CC>TT	uc001qzs.3	-	2	246_247	c.208_209GG>AA	c.(208-210)ggt>AAt	p.G70N	PRB4_uc001qzf.1_Intron	NM_006249	NP_006240	Q04118	PRB3_HUMAN	Homo sapiens proline-rich protein BstNI subfamily 3 (PRB3), mRNA.	70	10 X 21 AA tandem repeats of [RH]-P-G-K- P-[EQ]-G-[PQS]-P-[PS]-Q-[GE]-G-N-[QK]- [SP]-[QR]-[GR]-P-P-P.|Pro-rich.					extracellular region	Gram-negative bacterial cell surface binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			AGGTGGGGGACCTTGGGACTGG	0.624000														118			37		0	0	6.4e-05	0	0
NIPBL	25836	broad.mit.edu	37	5	37048731	37048731	+	Silent	SNP	C	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:37048731C>A	uc003jkl.4	+	38	7216	c.6717C>A	c.(6715-6717)acC>acA	p.T2239T	NIPBL_uc003jkk.4_Silent_p.T2239T|NIPBL_uc003jkn.3_5'Flank	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	Homo sapiens Nipped-B homolog (Drosophila) (NIPBL), transcript variant A, mRNA.	2239					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			ACCTCCAGACCTACCTACAAG	0.294000														54			6		0.00116845	0.00365189	0.00116845	1	0
OR2T2	401992	broad.mit.edu	37	1	248616432	248616432	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:248616432G>A	uc001iek.1	+	0	334	c.334G>A	c.(334-336)Gaa>Aaa	p.E112K		NM_001004136	NP_001004136	Q6IF00	OR2T2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 2 (OR2T2), mRNA.	112					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GATTGGAGGGGAATTCTTCCT	0.537000														149			21		0	0	0.00332997	0	0
ACOT12	134526	broad.mit.edu	37	5	80628307	80628307	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:80628307G>A	uc003khl.4	-	12	1435	c.1380C>T	c.(1378-1380)ccC>ccT	p.P460P	RNU5E-1_uc011cto.1_Intron	NM_130767	NP_570123	Q8WYK0	ACO12_HUMAN	Homo sapiens acyl-CoA thioesterase 12 (ACOT12), mRNA.	460	START.				acyl-CoA metabolic process|fatty acid metabolic process	cytosol	acetyl-CoA hydrolase activity|carboxylesterase activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)	23		Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34)		CATCTTTGAGGGGTTTTCTTC	0.368000														42			20		0	0	0.00229938	0	0
ANKRD42	338699	broad.mit.edu	37	11	82936039	82936039	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:82936039C>T	uc010rsv.1	+	5	1151	c.729C>T	c.(727-729)aaC>aaT	p.N243N	ANKRD42_uc001ozz.1_Silent_p.N215N|ANKRD42_uc001paa.3_Silent_p.N243N|ANKRD42_uc001pab.1_Silent_p.N242N			Q8N9B4	ANR42_HUMAN	Homo sapiens ankyrin repeat domain 42 (ANKRD42), mRNA.	215										central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18						TCAAGCAGAACATTTTACAGT	0.378000														28			15		0	0	0.00074312	0	0
LY75-CD302	100526664	broad.mit.edu	37	2	160750531	160750531	+	Silent	SNP	C	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:160750531C>A	uc002ubb.4	-	2	605	c.531G>T	c.(529-531)ggG>ggT	p.G177G	LY75-CD302_uc010fos.3_Silent_p.G177G|LY75-CD302_uc002ubc.4_Silent_p.G177G|LY75-CD302_uc010fot.2_Silent_p.G177G	NM_001198759	NP_001185688	O60449	LY75_HUMAN	Homo sapiens LY75-CD302 readthrough (LY75-CD302), transcript variant 1, mRNA.	177	Fibronectin type-II.				endocytosis|immune response|inflammatory response	integral to plasma membrane	receptor activity|sugar binding										GATGCCAGGTCCCATCAATTA	0.433000														38			17		4.7546e-09	1.4968e-08	0.00400662	1	0
CDK20	23552	broad.mit.edu	37	9	90584726	90584726	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr9:90584726G>A	uc004apr.3	-	5	1006	c.672C>T	c.(670-672)aaC>aaT	p.N224N	CDK20_uc004aps.3_Silent_p.N203N|CDK20_uc022bjj.1_Silent_p.N203N|CDK20_uc004apt.3_Silent_p.N216N|CDK20_uc004apu.3_Intron	NM_001039803	NP_001034892	Q8IZL9	CDK20_HUMAN	Homo sapiens cyclin-dependent kinase 20 (CDK20), transcript variant 3, mRNA.	224	Protein kinase.				cell division|multicellular organismal development	cilium|mitochondrion|nucleus	ATP binding|cyclin-dependent protein kinase activity			skin(1)	1						AGACTTGAGGGTTTGGGGTGC	0.567000														48			14		0	0	0.00316338	0	0
IFNK	56832	broad.mit.edu	37	9	27524689	27524689	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr9:27524689G>A	uc022bez.1	+	0	355	c.355G>A	c.(355-357)Gat>Aat	p.D119N	MOB3B_uc003zqn.3_Intron|IFNK_uc003zqp.3_Missense_Mutation_p.D119N	NM_020124	NP_064509	Q9P0W0	IFNK_HUMAN	Homo sapiens interferon, kappa (IFNK), mRNA.	119					cytokine-mediated signaling pathway|defense response|natural killer cell activation|negative regulation of cell proliferation|positive regulation of innate immune response|regulation of transcription, DNA-dependent|response to virus	extracellular space	cytokine activity|interferon-alpha/beta receptor binding			large_intestine(1)	1		all_neural(11;7.9e-11)		LUSC - Lung squamous cell carcinoma(38;0.0001)|Lung(218;0.000158)		AATAGGACTTGATCAGCAAGC	0.413000														69			39		0	0	0.00321405	0	0
PHTF1	10745	broad.mit.edu	37	1	114280739	114280739	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:114280739G>A	uc009wgp.1	-	3	776	c.324C>T	c.(322-324)ttC>ttT	p.F108F	PHTF1_uc001edn.3_Silent_p.F108F	NM_006608	NP_006599	Q9UMS5	PHTF1_HUMAN	Homo sapiens putative homeodomain transcription factor 1 (PHTF1), mRNA.	108						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TACCTTGCATGAAATAAAGTA	0.343000														37			9		0	0	0.000978159	0	0
STK24	8428	broad.mit.edu	37	13	99115960	99115960	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr13:99115960G>A	uc001vnm.1	-	6	1185	c.950C>T	c.(949-951)tCc>tTc	p.S317F	STK24_uc001vnn.1_Missense_Mutation_p.S305F|STK24_uc010tim.1_Missense_Mutation_p.S286F	NM_003576	NP_003567	Q9Y6E0	STK24_HUMAN	Homo sapiens serine/threonine kinase 24 (STK24), transcript variant 1, mRNA.	317					cellular component disassembly involved in apoptosis|signal transduction	cytosol|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	17	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			GGAATCCTCGGAGCTCGAGTC	0.522000														20			7		0	0	0.00307968	0	0
DPPA3	359787	broad.mit.edu	37	12	7867918	7867918	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:7867918C>T	uc001qtf.3	+	1	300	c.222C>T	c.(220-222)atC>atT	p.I74I		NM_199286	NP_954980	Q6W0C5	DPPA3_HUMAN	Homo sapiens developmental pluripotency associated 3 (DPPA3), mRNA.	74						cytoplasm|nucleus				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2)	8				Kidney(36;0.0887)		TCAGGGAAATCGAAGATGAGT	0.468000														21			13		0	0	0.00136819	0	0
BLM	641	broad.mit.edu	37	15	91308595	91308596	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr15:91308595_91308596CC>AA	uc002bpr.3	+	8	2241_2242	c.2144_2145CC>AA	c.(2143-2145)ccc>cAA	p.P715Q	BLM_uc010uqh.2_Missense_Mutation_p.P715Q|BLM_uc010uqi.2_Missense_Mutation_p.P340Q|BLM_uc010bnx.3_Missense_Mutation_p.P715Q	NM_000057	NP_000048	P54132	BLM_HUMAN	Homo sapiens Bloom syndrome, RecQ helicase-like (BLM), mRNA.	715	Helicase ATP-binding.				G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|double-strand break repair via homologous recombination|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray	PML body|cytoplasm|lateral element|nuclear matrix|nucleolus	ATP binding|DNA strand annealing activity|G-quadruplex DNA binding|bubble DNA binding|four-way junction helicase activity|p53 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			GTCATTTCTCCCTTGAGATCAC	0.376000			"""Mis, N, F"""			"""leukemia, lymphoma, skin squamous cell , other cancers"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome					693			15		0	0	6.4e-05	0	0
CLUL1	27098	broad.mit.edu	37	18	619283	619283	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr18:619283G>A	uc010wys.2	+	4	567	c.333G>A	c.(331-333)atG>atA	p.M111I	CLUL1_uc002kkp.3_Missense_Mutation_p.M59I|CLUL1_uc002kkq.3_Missense_Mutation_p.M59I	NM_199167	NP_954636	Q15846	CLUL1_HUMAN	Homo sapiens clusterin-like 1 (retinal) (CLUL1), transcript variant 2, mRNA.	59					cell death	extracellular region		p.D111H(1)		NS(1)|breast(1)|endometrium(5)|large_intestine(5)|liver(2)|lung(7)|ovary(2)|skin(1)	24						TTAAGCAAATGAAAATCATGA	0.378000														27			13		0	0	0.00185496	0	0
TCTN2	79867	broad.mit.edu	37	12	124192218	124192218	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:124192218C>T	uc001ufp.3	+	17	2180	c.2052C>T	c.(2050-2052)ttC>ttT	p.F684F	TCTN2_uc009zya.3_Silent_p.F683F	NM_024809	NP_079085	Q96GX1	TECT2_HUMAN	Homo sapiens tectonic family member 2 (TCTN2), transcript variant 1, mRNA.	684					cilium assembly|smoothened signaling pathway	integral to membrane				breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451)		TGGCCTTGTTCCTCAGCAACC	0.448000														76			42		0	0	0.00361006	0	0
OR56B1	387748	broad.mit.edu	37	11	5758025	5758025	+	Silent	SNP	C	T	T	rs141704797	byFrequency	TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:5758025C>T	uc001mbt.2	+	0	348	c.279C>T	c.(277-279)atC>atT	p.I93I	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.2_Intron|OR56B1_uc001mbs.1_Silent_p.I93I|OR56B1_uc009yev.1_Silent_p.I93I	NM_001005180	NP_001005180	Q8NGI3	O56B1_HUMAN	Homo sapiens olfactory receptor, family 56, subfamily B, member 1 (OR56B1), mRNA.	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	13		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.086)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.184)		TCCTGGCCATCTTCTGGTTTG	0.468000														39			9		0	0	0.000673444	0	0
LEPREL1	55214	broad.mit.edu	37	3	189690747	189690747	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:189690747G>A	uc011bsk.2	-	10	2003	c.1615C>T	c.(1615-1617)Cga>Tga	p.R539*	LEPREL1_uc003fsg.3_Nonsense_Mutation_p.R358*	NM_018192	NP_001127890	Q8IVL5	P3H2_HUMAN	Homo sapiens leprecan-like 1 (LEPREL1), transcript variant 1, mRNA.	539					collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation	Golgi apparatus|basement membrane|endoplasmic reticulum	L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5)	41	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	ACAATCCTTCGAGCCTTTTCG	0.413000														31			11		0	0	0.00136819	0	0
ZNF208	7757	broad.mit.edu	37	19	22156654	22156654	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:22156654C>T	uc021urr.1	-	3	1331	c.1182G>A	c.(1180-1182)gaG>gaA	p.E394E	ZNF208_uc002nqo.1_Intron	NM_007153	NP_009084			Homo sapiens zinc finger protein 208 (ZNF208), mRNA.											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TGTAGGGTTTCTCTCCAGTAT	0.383000														50			30		0	0	0.00327116	0	0
PLCB4	5332	broad.mit.edu	37	20	9319670	9319670	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr20:9319670C>T	uc021wam.1	+	3	370	c.355C>T	c.(355-357)Cca>Tca	p.P119S	PLCB4_uc010gbw.1_Missense_Mutation_p.P119S|PLCB4_uc010gbx.3_Missense_Mutation_p.P119S|PLCB4_uc021wal.1_Missense_Mutation_p.P119S	NM_000933	NP_000924	Q15147	PLCB4_HUMAN	Homo sapiens phospholipase C, beta 4 (PLCB4), transcript variant 1, mRNA.	119					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						GGCTGAAAATCCAGAAGTAAC	0.378000														33			15		0	0	0.000958276	0	0
MYH8	4626	broad.mit.edu	37	17	10297710	10297710	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr17:10297710C>T	uc002gmm.2	-	34	5117	c.5022G>A	c.(5020-5022)ctG>ctA	p.L1674L	AK097500_uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA.	1674					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						CCACAATTGCCAGCTGTTCCT	0.542000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling					17			12		0	0	0.000978159	0	0
ZBTB20	26137	broad.mit.edu	37	3	114069353	114069353	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:114069353G>A	uc003ebi.3	-	3	1752	c.1572C>T	c.(1570-1572)ttC>ttT	p.F524F	ZBTB20_uc003ebj.3_Silent_p.F451F|ZBTB20_uc010hqp.3_Silent_p.F451F|ZBTB20_uc003ebk.3_Silent_p.F451F|ZBTB20_uc003ebl.3_Silent_p.F451F|ZBTB20_uc003ebm.3_Silent_p.F451F|ZBTB20_uc003ebn.3_Silent_p.F451F|ZBTB20-AS1_uc003ebo.2_5'Flank	NM_001164342	NP_056457	Q9HC78	ZBT20_HUMAN	Homo sapiens zinc finger and BTB domain containing 20 (ZBTB20), transcript variant 1, mRNA.	524					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		GGCTGAAGAGGAAAGGCTTGG	0.632000														43			16		0	0	0.000566183	0	0
DEFB115	245929	broad.mit.edu	37	20	29847306	29847306	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr20:29847306G>A	uc002wvp.1	+	1	138	c.138G>A	c.(136-138)agG>agA	p.R46R		NM_001037730	NP_001032819	Q30KQ5	DB115_HUMAN	Homo sapiens defensin, beta 115 (DEFB115), mRNA.	46					defense response to bacterium	extracellular region				kidney(1)|lung(3)|ovary(1)|skin(1)	6			Colorectal(19;0.00445)|COAD - Colon adenocarcinoma(19;0.0347)			GCAGATGCAGGAAATCATGCA	0.328000														37			11		0	0	0.00185496	0	0
C2orf16	84226	broad.mit.edu	37	2	27802554	27802554	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:27802554G>A	uc002rkz.4	+	0	3166	c.3115G>A	c.(3115-3117)Gat>Aat	p.D1039N		NM_032266	NP_115642	Q68DN1	CB016_HUMAN	Homo sapiens chromosome 2 open reading frame 16 (C2orf16), mRNA.	1039										breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					CATATTTTACGATAGAGAAGA	0.453000														81			49		0	0	0.00361006	0	0
SIRPB1	10326	broad.mit.edu	37	20	1551638	1551638	+	Silent	SNP	C	T	T	rs138084629		TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr20:1551638C>T	uc010gai.3	-	3	996	c.897G>A	c.(895-897)tcG>tcA	p.S299S	SIRPB1_uc002wfk.4_Intron	NM_006065	NP_006056	O00241	SIRB1_HUMAN	Homo sapiens signal-regulatory protein beta 1 (SIRPB1), transcript variant 1, mRNA.	299	Ig-like C1-type 2.				cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding	p.S299L(1)		central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						CTATGAGGGTCGAAGCTGTTT	0.562000														37			22		0	0	0.00395357	0	0
SPRY3	10251	broad.mit.edu	37	X	155004345	155004345	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chrX:155004345G>A	uc022cio.1	+	0	812	c.812G>A	c.(811-813)aGa>aAa	p.R271K	SPRY3_uc004fnq.1_Missense_Mutation_p.R271K	NM_005840	NP_005831	O43610	SPY3_HUMAN	Homo sapiens sprouty homolog 3 (Drosophila) (SPRY3), mRNA.	271					multicellular organismal development|regulation of signal transduction	cytoplasm|membrane						all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					ACTGTGTGCAGAAAGATCTCT	0.562000														87			41		0	0	0.00128727	0	0
TRBV4-2	28616	broad.mit.edu	37	7	142045754	142045754	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:142045754C>T	uc003vxp.4	+	1	391	c.282C>T	c.(280-282)ttC>ttT	p.F94F	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|TRBV4-2_uc022anc.1_Non-coding_Transcript					SubName: Full=V_segment translation product; Flags: Fragment;																		CTCACTTATTCCTTCACCTAC	0.502000														105			63		0	0	0.00361006	0	0
OR51G2	81282	broad.mit.edu	37	11	4936891	4936891	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:4936891C>T	uc001lzr.1	-	0	3	c.3G>A	c.(1-3)atG>atA	p.M1I		NM_001005238	NP_001005238	Q8NGK0	O51G2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily G, member 2 (OR51G2), mRNA.	1					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|large_intestine(9)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATCCCAGGGTCATTGTGTGAG	0.527000														21			14		0	0	0.00244969	0	0
TAF1L	138474	broad.mit.edu	37	9	32633981	32633981	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr9:32633981G>A	uc003zrg.1	-	0	1687	c.1597C>T	c.(1597-1599)Cct>Tct	p.P533S	AX747113_uc003zrh.1_Non-coding_Transcript	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like (TAF1L), mRNA.	533					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|TBP-class protein binding|histone acetyltransferase activity|protein serine/threonine kinase activity			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		TTCTCATCAGGAATTTCCAAA	0.483000														44			36		0	0	0.00428921	0	0
HSPB9	94086	broad.mit.edu	37	17	40274945	40274945	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr17:40274945G>A	uc002hyy.2	+	0	190	c.77G>A	c.(76-78)cGg>cAg	p.R26Q	KAT2A_uc002hyx.2_5'Flank	NM_033194	NP_149971	Q9BQS6	HSPB9_HUMAN	Homo sapiens heat shock protein, alpha-crystallin-related, B9 (HSPB9), mRNA.	26					response to stress	cytoplasm|nucleus	protein binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	4		all_cancers(22;0.00064)|Breast(137;0.00104)|all_epithelial(22;0.00866)		BRCA - Breast invasive adenocarcinoma(366;0.124)		CTTGCTGAACGGAACCGGGTG	0.602000														39			22		0	0	0.00332997	0	0
FAM83B	222584	broad.mit.edu	37	6	54792355	54792355	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:54792355G>A	uc003pck.3	+	3	775	c.659G>A	c.(658-660)gGg>gAg	p.G220E		NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN	Homo sapiens family with sequence similarity 83, member B (FAM83B), mRNA.	220										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)					TCAAAAACAGGGGCAAAATTC	0.333000														62			35		0	0	0.00428921	0	0
GRIN2B	2904	broad.mit.edu	37	12	13761582	13761582	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:13761582G>A	uc001rbt.2	-	8	2144	c.1965C>T	c.(1963-1965)atC>atT	p.I655I		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2B (GRIN2B), mRNA.	655					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)	ATTCCTCTTGGATCATGAAGG	0.498000														24			16		0	0	0.00400662	0	0
CUZD1	50624	broad.mit.edu	37	10	124591942	124591942	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr10:124591942T>C	uc001lgs.3	-	10	2627	c.1676A>G	c.(1675-1677)gAa>gGa	p.E559G	CUZD1_uc001lgp.3_Missense_Mutation_p.E278G|CUZD1_uc009yad.3_Missense_Mutation_p.E278G|CUZD1_uc009yaf.3_Missense_Mutation_p.E193G|CUZD1_uc001lgr.3_Missense_Mutation_p.E278G|CUZD1_uc010qty.2_Missense_Mutation_p.E278G|CUZD1_uc009yae.3_Missense_Mutation_p.E278G|CUZD1_uc010qtz.2_Missense_Mutation_p.E559G	NM_022034	NP_071317	Q86UP6	CUZD1_HUMAN	Homo sapiens CUB and zona pellucida-like domains 1 (CUZD1), transcript variant 1, mRNA.	559					cell cycle|cell division|cell proliferation|substrate-dependent cell migration, cell attachment to substrate|trypsinogen activation	integral to membrane|transport vesicle membrane|zymogen granule membrane				NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|stomach(1)	39		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.126)|COAD - Colon adenocarcinoma(40;0.141)		TGGAGTTTCTTCCGCATGTGT	0.368000														35			24		0	0	0.00127121	0	0
POLR3E	55718	broad.mit.edu	37	16	22328451	22328451	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr16:22328451C>T	uc002dkk.3	+	11	945	c.789C>T	c.(787-789)gcC>gcT	p.A263A	POLR3E_uc002dkj.1_Silent_p.A263A|POLR3E_uc002dkm.3_Silent_p.A227A|POLR3E_uc010vbr.2_Silent_p.A263A|POLR3E_uc002dkl.3_Silent_p.A263A|POLR3E_uc010vbs.2_Silent_p.A227A|POLR3E_uc010vbt.2_Silent_p.A207A	NM_018119	NP_060589	Q9NVU0	RPC5_HUMAN	Homo sapiens polymerase (RNA) III (DNA directed) polypeptide E (80kD) (POLR3E), mRNA.	263					innate immune response|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA-directed RNA polymerase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.012)		AGCCTGTGGCCCCCAGCAACG	0.632000														59			25		0	0	0.00209593	0	0
PLA2G6	8398	broad.mit.edu	37	22	38565319	38565319	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr22:38565319G>A	uc003auy.1	-	1	251	c.115C>T	c.(115-117)Cgg>Tgg	p.R39W	PLA2G6_uc003auz.1_Missense_Mutation_p.R39W|PLA2G6_uc003ava.1_Missense_Mutation_p.R39W|PLA2G6_uc003avb.2_Missense_Mutation_p.R39W|PLA2G6_uc010gxk.1_Non-coding_Transcript|PLA2G6_uc011ano.1_Missense_Mutation_p.R39W	NM_003560	NP_003551	O60733	PA2G6_HUMAN	Homo sapiens phospholipase A2, group VI (cytosolic, calcium-independent) (PLA2G6), transcript variant 1, mRNA.	39					cardiolipin biosynthetic process|cell death|lipid catabolic process	centrosome|membrane				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	24	Melanoma(58;0.045)				Quinacrine(DB01103)	CCTTCCTCCCGAACTCGGTCA	0.587000														21			9		0	0	0.000274275	0	0
SCAF1	58506	broad.mit.edu	37	19	50149840	50149840	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:50149840C>T	uc002poq.3	+	4	443	c.319C>T	c.(319-321)Ccg>Tcg	p.P107S		NM_021228	NP_067051	Q9H7N4	SFR19_HUMAN	Homo sapiens SR-related CTD-associated factor 1 (SCAF1), mRNA.	107					RNA splicing|mRNA processing	nucleus	RNA binding	p.P107P(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)		CCTGGATCCCCCGGATACCTG	0.657000														37			21		0	0	0.00395357	0	0
A2ML1	144568	broad.mit.edu	37	12	9010680	9010680	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:9010680C>T	uc001quz.4	+	25	3344	c.3246C>T	c.(3244-3246)ctC>ctT	p.L1082L	A2ML1_uc001qva.1_Silent_p.L662L|A2ML1_uc010sgm.2_Silent_p.L582L	NM_144670	NP_653271	B3KVV6	B3KVV6_HUMAN	Homo sapiens alpha-2-macroglobulin-like 1 (A2ML1), mRNA.	926						extracellular space	endopeptidase inhibitor activity			NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						TGGGAAATCTCCTTCACACAG	0.527000														17			13		0	0	0.00316338	0	0
ABL2	27	broad.mit.edu	37	1	179084119	179084119	+	Silent	SNP	T	C	C			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:179084119T>C	uc001gmj.4	-	8	1742	c.1455A>G	c.(1453-1455)ccA>ccG	p.P485P	ABL2_uc010pnf.2_Silent_p.P485P|ABL2_uc010png.2_Silent_p.P464P|ABL2_uc010pnh.2_Silent_p.P464P|ABL2_uc009wxe.3_Silent_p.P464P|ABL2_uc001gmg.4_Silent_p.P470P|ABL2_uc001gmi.4_Silent_p.P470P|ABL2_uc010pne.2_Silent_p.P449P	NM_007314	NP_009298	P42684	ABL2_HUMAN	Homo sapiens v-abl Abelson murine leukemia viral oncogene homolog 2 (ABL2), transcript variant b, mRNA.	485	Protein kinase.				axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	TACCTGGATATGGTGACATTC	0.393000			T	ETV6	AML									83			29		0	0	0.00128727	0	0
TUFM	7284	broad.mit.edu	37	16	28855798	28855799	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr16:28855798_28855799GG>AA	uc002drh.2	-	5	897_898	c.758_759CC>TT	c.(757-759)ccc>cTT	p.P253L	NPIPL1_uc010vct.2_Intron|TUFM_uc021tft.1_5'Flank|SH2B1_uc002dri.3_5'Flank	NM_003321	NP_003312	P49411	EFTU_HUMAN	Homo sapiens Tu translation elongation factor, mitochondrial (TUFM), nuclear gene encoding mitochondrial protein, mRNA.	250						mitochondrial nucleoid	GTP binding|GTPase activity|protein binding|translation elongation factor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	13						GGTCCCGGGCGGGCACTGGGAT	0.599000														24			10		0	0	6.4e-05	0	0
DNMT3A	1788	broad.mit.edu	37	2	25469100	25469101	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:25469100_25469101GG>AA	uc002rgc.3	-	10	1614_1615	c.1357_1358CC>TT	c.(1357-1359)cca>TTa	p.P453L	DNMT3A_uc002rgd.3_Missense_Mutation_p.P453L|DNMT3A_uc010eyi.3_Non-coding_Transcript|DNMT3A_uc002rgb.3_Missense_Mutation_p.P264L	NM_022552	NP_783328	Q9Y6K1	DNM3A_HUMAN	Homo sapiens DNA (cytosine-5-)-methyltransferase 3 alpha (DNMT3A), transcript variant 3, mRNA.	453					regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTTTTTGGCTGGTGGAGGTGGT	0.559000			"""Mis, F, N, S"""		AML									82			32		0	0	6.4e-05	0	0
COL11A2	1302	broad.mit.edu	37	6	33135606	33135606	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:33135606G>A	uc003ocx.1	-	54	4212	c.3984C>T	c.(3982-3984)tcC>tcT	p.S1328S	COL11A2_uc010jul.1_Intron|COL11A2_uc003ocy.1_Silent_p.S1242S|COL11A2_uc003ocz.1_Silent_p.S1221S	NM_080680	NP_542411	P13942	COBA2_HUMAN	Homo sapiens collagen, type XI, alpha 2 (COL11A2), transcript variant 1, mRNA.	1328	Triple-helical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						GTCGCCCCTCGGAACCAGGCG	0.652000														36			9		0	0	0.000978159	0	0
SDK2	54549	broad.mit.edu	37	17	71426669	71426669	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr17:71426669C>T	uc010dfm.3	-	11	1564	c.1564G>A	c.(1564-1566)Gac>Aac	p.D522N	SDK2_uc010dfn.2_Missense_Mutation_p.D201N	NM_001144952	NP_001138424	Q58EX2	SDK2_HUMAN	Homo sapiens sidekick cell adhesion molecule 2 (SDK2), mRNA.	522	Ig-like C2-type 6.				cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						ACTCGGGGGTCGTGGGTCACT	0.607000														10			6		0	0	0.000274275	0	0
DGKK	139189	broad.mit.edu	37	X	50136221	50136221	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chrX:50136221G>A	uc010njr.2	-	8	1568	c.1524C>T	c.(1522-1524)ttC>ttT	p.F508F		NM_001013742	NP_001013764	Q5KSL6	DGKK_HUMAN	Homo sapiens diacylglycerol kinase, kappa (DGKK), mRNA.	508	DAGKc.				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)					ATTTTCGGAGGAAGACGATCC	0.453000														7			17		0	0	0.00074312	0	0
MADD	8567	broad.mit.edu	37	11	47296350	47296350	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:47296350C>T	uc001ner.1	+	2	490	c.299C>T	c.(298-300)tCc>tTc	p.S100F	MADD_uc001neq.2_Missense_Mutation_p.S100F|MADD_uc001nev.1_Missense_Mutation_p.S100F|MADD_uc001nes.1_Missense_Mutation_p.S100F|MADD_uc001net.1_Missense_Mutation_p.S100F|MADD_uc009yln.1_Missense_Mutation_p.S100F|MADD_uc001neu.1_Missense_Mutation_p.S100F|MADD_uc001nez.2_Missense_Mutation_p.S100F|MADD_uc001new.2_Missense_Mutation_p.S100F|MADD_uc001nex.2_Missense_Mutation_p.S100F	NM_003682	NP_003673	Q8WXG6	MADD_HUMAN	Homo sapiens MAP-kinase activating death domain (MADD), transcript variant 4, mRNA.	100					activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	Rab guanyl-nucleotide exchange factor activity|death receptor binding|protein kinase activator activity			breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		TTCTACCGCTCCTTCCAAAAG	0.557000														25			11		0	0	0.00136819	0	0
OR4C13	283092	broad.mit.edu	37	11	49974218	49974218	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:49974218G>A	uc010rhz.2	+	0	276	c.244G>A	c.(244-246)Gat>Aat	p.D82N		NM_001001955	NP_001001955	Q8NGP0	OR4CD_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 13 (OR4C13), mRNA.	82					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						GCTGATCACAGATTCACTCTA	0.418000														140			49		0	0	0.00361006	0	0
IZUMO2	126123	broad.mit.edu	37	19	50655885	50655885	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:50655885C>T	uc002prp.1	-	6	734	c.647G>A	c.(646-648)cGa>cAa	p.R216Q		NM_152358	NP_689571	Q6UXV1	IZUM2_HUMAN	Homo sapiens IZUMO family member 2 (IZUMO2), mRNA.	216						integral to membrane				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	7						CAGGAGTTTTCGGTTTTGTCT	0.403000														193			87		0	0	0.00361006	0	0
RASGRP3	25780	broad.mit.edu	37	2	33749041	33749041	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:33749041G>A	uc002rox.3	+	8	1239	c.612G>A	c.(610-612)tgG>tgA	p.W204*	RASGRP3_uc010ync.2_Nonsense_Mutation_p.W204*|RASGRP3_uc002roy.3_Nonsense_Mutation_p.W204*	NM_170672	NP_733772	Q8IV61	GRP3_HUMAN	Homo sapiens RAS guanyl releasing protein 3 (calcium and DAG-regulated) (RASGRP3), transcript variant 2, mRNA.	204	Ras-GEF.				MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	Rap GTPase activator activity|calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity|protein binding|signal transducer activity			large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2)	11	all_hematologic(175;0.115)					TCTCTAAGTGGGTCCAGTTGA	0.428000														150			56		0	0	0.00361006	0	0
ZC3H18	124245	broad.mit.edu	37	16	88691074	88691074	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr16:88691074C>T	uc010voz.2	+	12	2235	c.2035C>T	c.(2035-2037)Cct>Tct	p.P679S	ZC3H18_uc002fky.3_Missense_Mutation_p.P655S|ZC3H18_uc010chw.3_Non-coding_Transcript|ZC3H18_uc002fkz.3_5'Flank	NM_144604	NP_653205	Q86VM9	ZCH18_HUMAN	Homo sapiens zinc finger CCCH-type containing 18 (ZC3H18), mRNA.	655	Ser-rich.					nucleus	nucleic acid binding|zinc ion binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		AACCACTGCTCCTGTCCCCGA	0.692000														12			7		0	0	0.000673444	0	0
RYR1	6261	broad.mit.edu	37	19	38939053	38939053	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:38939053G>T	uc002oit.3	+	9	989	c.859G>T	c.(859-861)Ggg>Tgg	p.G287W	RYR1_uc002oiu.3_Missense_Mutation_p.G287W	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	287	MIR 4.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	TGTCACTACCGGGCAGTACCT	0.652000														91			5		0.00116845	0.00365189	0.00116845	1	0
KRT1	3848	broad.mit.edu	37	12	53069116	53069117	+	Missense_Mutation	DNP	GA	AT	AT			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:53069116_53069117GA>AT	uc001sau.1	-	8	1854_1855	c.1795_1796TC>AT	c.(1795-1797)tct>ATt	p.S599I	KRT1_uc001sav.1_Missense_Mutation_p.S592I	NM_006121	NP_006112	P04264	K2C1_HUMAN	Homo sapiens keratin 1 (KRT1), mRNA.	599	Gly/Ser-rich.|Tail.				complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress	plasma membrane	protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						CCGgccgccagagctgccgccg	0.713000														11			10		0	0	6.4e-05	0	0
MUC16	94025	broad.mit.edu	37	19	9087822	9087822	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:9087822C>T	uc002mkp.3	-	0	4197	c.3993G>A	c.(3991-3993)aaG>aaA	p.K1331K		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	1331	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						AACTTGTATCCTTAGGATCCG	0.522000														42			16		0	0	0.000566183	0	0
DNM1P46	196968	broad.mit.edu	37	15	100332974	100332974	+	RNA	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr15:100332974G>A	uc021sxl.1	-	1		c.179C>T			DNM1P46_uc010urx.1_Non-coding_Transcript|DNM1P46_uc010ury.2_Non-coding_Transcript					Homo sapiens DNM1 pseudogene 46 (DNM1P46), non-coding RNA.																		GGGCAGGGGAGGCTCTCACTG	0.627000														76			5		0	0	0.000958276	0	0
HIVEP2	3097	broad.mit.edu	37	6	143081087	143081087	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:143081087G>A	uc003qjd.3	-	8	7081	c.6338C>T	c.(6337-6339)cCa>cTa	p.P2113L		NM_006734	NP_006725	P31629	ZEP2_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 2 (HIVEP2), mRNA.	2113	10 X 4 AA tandem repeats of S-P-[RGMKC]- [RK].|Arg-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		TGGCCTCCTTGGAGACAAATG	0.468000														26			11		0	0	0.000673444	0	0
SEZ6L	23544	broad.mit.edu	37	22	26694973	26694973	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr22:26694973C>T	uc003acb.3	+	4	1382	c.1186C>T	c.(1186-1188)Ccc>Tcc	p.P396S	SEZ6L_uc003acd.3_Missense_Mutation_p.P396S|SEZ6L_uc011akd.2_Missense_Mutation_p.P396S|SEZ6L_uc003ace.3_Missense_Mutation_p.P396S|SEZ6L_uc011akc.2_Missense_Mutation_p.P396S|SEZ6L_uc003acc.3_Missense_Mutation_p.P396S|SEZ6L_uc003acf.1_Missense_Mutation_p.P169S|SEZ6L_uc010gvc.1_Missense_Mutation_p.P169S	NM_021115	NP_066938	Q9BYH1	SE6L1_HUMAN	Homo sapiens seizure related 6 homolog (mouse)-like (SEZ6L), transcript variant 1, mRNA.	396	Sushi 1.					endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						CTGCAACTTTCCCCGCCGGCC	0.592000														28			14		0	0	0.000566183	0	0
RAI1	10743	broad.mit.edu	37	17	17701563	17701563	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr17:17701563C>T	uc002grm.3	+	2	5770	c.5301C>T	c.(5299-5301)ggC>ggT	p.G1767G	RAI1_uc002grn.1_Silent_p.G1767G	NM_030665	NP_109590	Q7Z5J4	RAI1_HUMAN	Homo sapiens retinoic acid induced 1 (RAI1), mRNA.	1767						cytoplasm|nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		CCAAGCAGGGCCCACTGCGCA	0.706000														0			5		0	0	0.00198382	0	0
SLC29A3	55315	broad.mit.edu	37	10	73121932	73121932	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr10:73121932C>T	uc001jrr.4	+	5	1052	c.995C>T	c.(994-996)tCc>tTc	p.S332F	SLC29A3_uc001jrs.4_3'UTR|SLC29A3_uc010qjq.2_Missense_Mutation_p.S186F|SLC29A3_uc001jrt.4_Missense_Mutation_p.S126F	NM_018344	NP_060814	Q9BZD2	S29A3_HUMAN	Homo sapiens solute carrier family 29 (nucleoside transporters), member 3 (SLC29A3), transcript variant 1, mRNA.	332					nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|late endosome membrane|lysosomal membrane	nucleoside transmembrane transporter activity			endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	15						AACATCGAGTCCCTCAACAAG	0.567000														88			68		0	0	0.00361006	0	0
CD163L1	283316	broad.mit.edu	37	12	7556136	7556136	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:7556136C>T	uc010sge.2	-	5	1459	c.1433G>A	c.(1432-1434)tGt>tAt	p.C478Y	CD163L1_uc001qsy.3_Missense_Mutation_p.C468Y	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	Homo sapiens CD163 molecule-like 1 (CD163L1), mRNA.	468	SRCR 5.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						CTTACCAGAACAAATTACTCC	0.393000														45			18		0	0	0.00152264	0	0
MAP3K14	9020	broad.mit.edu	37	17	43364173	43364173	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr17:43364173G>A	uc002iiw.1	-	5	883	c.774C>T	c.(772-774)ccC>ccT	p.P258P	MAP3K14_uc010daj.1_Non-coding_Transcript|MAP3K14_uc002iiv.1_5'UTR	NM_003954	NP_003945	Q99558	M3K14_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 14 (MAP3K14), mRNA.	259					I-kappaB kinase/NF-kappaB cascade|T cell costimulation|cellular response to mechanical stimulus|immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade	cytosol	ATP binding|MAP kinase kinase kinase activity|NF-kappaB-inducing kinase activity|protein binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27						GTCTGCTATAGGGGAAGGGGT	0.612000														13			4		0	0	0.000602214	0	0
PTCHD4	442213	broad.mit.edu	37	6	47976780	47976780	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:47976780C>T	uc011dwm.2	-	1	531	c.497G>A	c.(496-498)cGg>cAg	p.R166Q	PTCHD4_uc011dwn.2_5'UTR|PTCHD4_uc003ozf.2_Missense_Mutation_p.R166Q	NM_001013732	NP_001013754	Q6ZW05	CF138_HUMAN	Homo sapiens chromosome 6 open reading frame 138 (C6orf138), transcript variant 1, mRNA.	166						integral to membrane	hedgehog receptor activity										TGACTTGACCCGCTGATCTTT	0.493000														23			7		0	0	0.00198382	0	0
CYSLTR2	57105	broad.mit.edu	37	13	49281386	49281386	+	Silent	SNP	C	A	A	rs139045217	byFrequency	TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr13:49281386C>A	uc010acw.1	+	1	723	c.433C>A	c.(433-435)Cgg>Agg	p.R145R	CYSLTR2_uc010acx.1_Silent_p.R145R|CYSLTR2_uc010acy.1_Silent_p.R145R|CYSLTR2_uc010acz.1_Silent_p.R145R|CYSLTR2_uc010ada.1_Silent_p.R145R|CYSLTR2_uc010adb.1_Silent_p.R145R|CYSLTR2_uc010adc.1_Silent_p.R145R|CYSLTR2_uc010add.1_Silent_p.R145R|CYSLTR2_uc001vck.2_Silent_p.R145R|CYSLTR2_uc021rjl.1_Silent_p.R145R	NM_020377	NP_065110	Q9NS75	CLTR2_HUMAN	Homo sapiens cysteinyl leukotriene receptor 2 (CYSLTR2), mRNA.	145					immune response	integral to membrane|plasma membrane				endometrium(2)|large_intestine(4)|lung(12)|skin(2)	20		all_cancers(8;1.66e-53)|all_epithelial(8;1.96e-19)|all_lung(13;9.94e-09)|all_hematologic(8;7.13e-07)|Lung NSC(96;1.72e-06)|Breast(56;1.53e-05)|Acute lymphoblastic leukemia(8;6.86e-05)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0416)|Lung SC(185;0.0787)		GBM - Glioblastoma multiforme(99;1.19e-09)	Nedocromil(DB00716)	TCACCCCTTTCGGCTTCTGCA	0.478000														103			42		8.72198e-27	2.75872e-26	0.00361006	1	0
CRB1	23418	broad.mit.edu	37	1	197390665	197390665	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:197390665C>T	uc001gtz.3	+	5	1916	c.1707C>T	c.(1705-1707)ttC>ttT	p.F569F	CRB1_uc010poz.2_Silent_p.F500F|CRB1_uc009wza.3_Silent_p.F457F|CRB1_uc010ppa.2_Non-coding_Transcript|CRB1_uc010ppb.2_Silent_p.F569F|CRB1_uc010ppc.1_Non-coding_Transcript|CRB1_uc010ppd.2_Silent_p.F50F|CRB1_uc001gub.1_Silent_p.F218F	NM_201253	NP_957705	P82279	CRUM1_HUMAN	Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA.	569	Laminin G-like 1.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	p.F569F(2)		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						AGTGGCATTTCGTGGAGGTAA	0.453000														83			30		0	0	0.00327116	0	0
MBD3	53615	broad.mit.edu	37	19	1581157	1581157	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:1581157G>A	uc002ltj.3	-	4	633	c.611C>T	c.(610-612)cCc>cTc	p.P204L	MBD3_uc002ltk.3_Missense_Mutation_p.P172L|MBD3_uc002ltl.1_Missense_Mutation_p.P204L	NM_003926	NP_003917	O95983	MBD3_HUMAN	Homo sapiens methyl-CpG binding domain protein 3 (MBD3), mRNA.	204					transcription, DNA-dependent	NuRD complex	DNA binding|protein binding			central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	8		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.179)|STAD - Stomach adenocarcinoma(1328;0.18)		CCATACGCCGGGGTTCTTCTC	0.657000														19			12		0	0	0.00136819	0	0
VSTM2A	222008	broad.mit.edu	37	7	54610435	54610435	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:54610435C>T	uc022adk.1	+	0	417	c.12C>T	c.(10-12)atC>atT	p.I4I	VSTM2A_uc010kzf.3_Silent_p.I4I	NM_182546	NP_872352	Q8TAG5	VTM2A_HUMAN	Homo sapiens V-set and transmembrane domain containing 2A (VSTM2A), mRNA.	4						extracellular region		p.M2_G3>IW(1)		endometrium(1)|large_intestine(2)|lung(12)|prostate(1)	16			STAD - Stomach adenocarcinoma(5;0.0525)			TGATGGGGATCTTTTTGGTGT	0.448000														75			28		0	0	0.00127121	0	0
COL5A1	1289	broad.mit.edu	37	9	137630331	137630331	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr9:137630331C>T	uc004cfe.3	+	9	1783	c.1401C>T	c.(1399-1401)atC>atT	p.I467I		NM_000093	NP_000084	P20908	CO5A1_HUMAN	Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA.	467	Interrupted collagenous region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		GCATGCTCATCGAGGGCCCGC	0.647000														42			14		0	0	0.00400662	0	0
DAB1	1600	broad.mit.edu	37	1	57538053	57538053	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:57538053G>A	uc009vzx.1	-	4	661	c.341C>T	c.(340-342)tCc>tTc	p.S114F	DAB1_uc001cyt.1_Missense_Mutation_p.S114F|DAB1_uc001cyq.1_Missense_Mutation_p.S114F|DAB1_uc001cyr.1_Intron|DAB1_uc009vzw.1_Missense_Mutation_p.S114F|DAB1_uc001cys.1_Missense_Mutation_p.S114F	NM_021080	NP_066566	O75553	DAB1_HUMAN	Homo sapiens disabled homolog 1 (Drosophila) (DAB1), mRNA.	114	PID.				cell differentiation|nervous system development					central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						TGCAATGTAGGATATTTCATG	0.438000														20			50		0	0	0.00361006	0	0
GCLC	2729	broad.mit.edu	37	6	53363632	53363632	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:53363632T>A	uc003pbw.2	-	15	2320	c.1836A>T	c.(1834-1836)ttA>ttT	p.L612F	GCLC_uc003pbv.1_Missense_Mutation_p.L336F|GCLC_uc021zau.1_Missense_Mutation_p.L574F	NM_001498	NP_001489	P48506	GSH1_HUMAN	Homo sapiens glutamate-cysteine ligase, catalytic subunit (GCLC), transcript variant 1, mRNA.	612					anti-apoptosis|cell redox homeostasis|cysteine metabolic process|glutamate metabolic process|glutathione biosynthetic process|negative regulation of transcription, DNA-dependent|regulation of blood vessel size|response to heat|response to hormone stimulus|response to oxidative stress|xenobiotic metabolic process	cytosol	ADP binding|ATP binding|coenzyme binding|glutamate binding|glutamate-cysteine ligase activity|magnesium ion binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22	Lung NSC(77;0.0137)				L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)	GGCATTCACATAATTCATTTG	0.338000														106			44		0	0	0.00321405	0	0
KIAA1755	85449	broad.mit.edu	37	20	36841513	36841513	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr20:36841513G>A	uc002xhy.1	-	13	3806	c.3534C>T	c.(3532-3534)tcC>tcT	p.S1178S	KIAA1755_uc002xhv.1_Silent_p.S242S|KIAA1755_uc002xhw.1_Silent_p.S233S|KIAA1755_uc002xhx.1_Silent_p.S456S	NM_001029864	NP_001025035	Q5JYT7	K1755_HUMAN	Homo sapiens KIAA1755 (KIAA1755), mRNA.	1178										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				TCCCCTCTGAGGAGAAGCTGC	0.647000														28			14		0	0	0.00316338	0	0
LMO1	4004	broad.mit.edu	37	11	8248592	8248592	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:8248592C>T	uc001mgg.1	-	2	792	c.295G>A	c.(295-297)Gag>Aag	p.E99K	LMO1_uc009yfo.1_Non-coding_Transcript|LMO1_uc001mgh.1_Missense_Mutation_p.E98K	NM_002315	NP_002306	P25800	RBTN1_HUMAN	Homo sapiens LIM domain only 1 (rhombotin 1) (LMO1), mRNA.	99	LIM zinc-binding 2.				cell proliferation|multicellular organismal development|positive regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|skin(1)	5				Epithelial(150;1.59e-07)|BRCA - Breast invasive adenocarcinoma(625;0.203)		ATCACCATCTCGAAGGCTGGG	0.617000			"""T, A"""	TRD@	"""T-ALL, neuroblastoma"""	neuroblastoma								23			5		0	0	0.000602214	0	0
KCNQ1	3784	broad.mit.edu	37	11	2591881	2591881	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:2591881C>T	uc001lwn.3	+	2	609	c.501C>T	c.(499-501)ttC>ttT	p.F167F	KCNQ1_uc009ydp.1_Intron|KCNQ1_uc001lwo.3_Silent_p.F40F	NM_000218	NP_000209	P51787	KCNQ1_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 1 (KCNQ1), transcript variant 1, mRNA.	167			FG -> W (in LQT1).		blood circulation|membrane depolarization|muscle contraction|sensory perception of sound		delayed rectifier potassium channel activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)	21		all_epithelial(84;3.26e-05)|Breast(177;0.001)|Medulloblastoma(188;0.00111)|Ovarian(85;0.00158)|all_neural(188;0.00725)|all_lung(207;0.11)|Lung NSC(207;0.159)		BRCA - Breast invasive adenocarcinoma(625;0.00251)|Lung(200;0.131)	Bepridil(DB01244)|Indapamide(DB00808)	TGGTGTTCTTCGGGACGGAGT	0.642000														91			45		0	0	0.00361006	0	0
KLF3	51274	broad.mit.edu	37	4	38690447	38690447	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr4:38690447C>T	uc003gth.4	+	2	631	c.299C>T	c.(298-300)tCc>tTc	p.S100F	KLF3_uc003gtg.2_Missense_Mutation_p.S100F	NM_016531	NP_057615	P57682	KLF3_HUMAN	Homo sapiens Kruppel-like factor 3 (basic) (KLF3), mRNA.	100	Pro-rich.				multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(5)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	18						ATGCCTTCTTCCAGCCCACCG	0.617000														50			18		0	0	0.00188189	0	0
CCDC88B	283234	broad.mit.edu	37	11	64108111	64108111	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:64108111G>A	uc001nzy.3	+	1	142	c.93G>A	c.(91-93)gcG>gcA	p.A31A	CCDC88B_uc009ypo.2_Silent_p.A31A|CCDC88B_uc001nzz.1_5'Flank	NM_032251	NP_115627	A6NC98	CC88B_HUMAN	Homo sapiens coiled-coil domain containing 88B (CCDC88B), mRNA.	31					microtubule cytoskeleton organization	cytoplasm	microtubule binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TCggggaggcggaggactcgg	0.682000														20			20		0	0	0.00332997	0	0
TSSK2	23617	broad.mit.edu	37	22	19119524	19119524	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr22:19119524G>A	uc002zow.2	+	0	1204	c.612G>A	c.(610-612)gtG>gtA	p.V204V	DGCR14_uc002zou.3_3'UTR	NM_053006	NP_443732	Q96PF2	TSSK2_HUMAN	Homo sapiens testis-specific serine kinase 2 (TSSK2), mRNA.	204	Protein kinase.				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	p.V204M(1)|p.G203C(1)		endometrium(2)|large_intestine(2)|lung(2)|prostate(4)|stomach(1)	11	Colorectal(54;0.0993)					GCCTGGGCGTGATCCTGTACA	0.597000														51			19		0	0	0.000958276	0	0
ITIH2	3698	broad.mit.edu	37	10	7745462	7745462	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr10:7745462C>T	uc001ijs.3	+	0	227	c.65C>T	c.(64-66)cCc>cTc	p.P22L		NM_002216	NP_002207	P19823	ITIH2_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain 2 (ITIH2), mRNA.	22					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						TTCGAAATCCCCATAAATGGA	0.413000														60			21		0	0	0.00188189	0	0
TLL1	7092	broad.mit.edu	37	4	166978381	166978381	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr4:166978381G>A	uc003irh.2	+	13	2413	c.1766G>A	c.(1765-1767)cGa>cAa	p.R589Q	TLL1_uc011cjn.2_Missense_Mutation_p.R612Q|TLL1_uc011cjo.2_Missense_Mutation_p.R413Q	NM_012464	NP_036596	O43897	TLL1_HUMAN	Homo sapiens tolloid-like 1 (TLL1), transcript variant 1, mRNA.	589	EGF-like 1; calcium-binding (Potential).				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		TGTGAGCAGCGATGTCTGAAC	0.478000														48			24		0	0	0.000720815	0	0
KCTD3	51133	broad.mit.edu	37	1	215777493	215777493	+	Silent	SNP	C	T	T	rs138597417	by1000genomes	TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:215777493C>T	uc001hks.3	+	12	1452	c.1158C>T	c.(1156-1158)atC>atT	p.I386I	KCTD3_uc001hkt.3_Silent_p.I386I|KCTD3_uc010pub.2_Silent_p.I284I|KCTD3_uc009xdn.3_Silent_p.I138I	NM_016121	NP_057205	Q9Y597	KCTD3_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 3 (KCTD3), mRNA.	386						voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)	33				all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)		GTAACTGGATCGAGATCGCCT	0.443000														47			15		0	0	0.00074312	0	0
ZNF99	7652	broad.mit.edu	37	19	22941261	22941261	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:22941261C>T	uc021urt.1	-	3	1605	c.1450G>A	c.(1450-1452)Gaa>Aaa	p.E484K		NM_001080409	NP_001073878			Homo sapiens zinc finger protein 99 (ZNF99), mRNA.									p.K484N(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				CCACATTCTTCACATTTGTAG	0.368000														42			14		0	0	0.00316338	0	0
CLTCL1	8218	broad.mit.edu	37	22	19221047	19221047	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr22:19221047G>A	uc021wle.1	-	7	1341	c.1266C>T	c.(1264-1266)ctC>ctT	p.L422L	CLTCL1_uc021wld.1_Silent_p.L422L|CLTCL1_uc021wlc.1_Silent_p.L422L|CLTCL1_uc021wlf.1_Silent_p.L422L|CLTCL1_uc011agw.1_Silent_p.L422L	NM_007098	NP_009029	P53675	CLH2_HUMAN	Homo sapiens clathrin, heavy chain-like 1 (CLTCL1), transcript variant 1, mRNA.	422	Globular terminal domain.				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					GACCCTGGTCGAGCAGGATTC	0.502000			T	?	ALCL									34			9		0	0	0.000673444	0	0
ZDBF2	57683	broad.mit.edu	37	2	207173185	207173185	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:207173185G>A	uc002vbp.2	+	4	4183	c.3933G>A	c.(3931-3933)agG>agA	p.R1311R		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	Homo sapiens zinc finger, DBF-type containing 2 (ZDBF2), mRNA.	1311							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						ATCTTTTGAGGGAGGAACATG	0.363000														32			12		0	0	0.00185496	0	0
NCOR2	9612	broad.mit.edu	37	12	124831144	124831144	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:124831144G>A	uc021rga.1	-	30	4463	c.4346C>T	c.(4345-4347)gCc>gTc	p.A1449V	NCOR2_uc021rgb.1_Missense_Mutation_p.A1433V|NCOR2_uc010tbb.2_Missense_Mutation_p.A1442V|NCOR2_uc010tbc.2_Missense_Mutation_p.A1432V|NCOR2_uc021rgc.1_Missense_Mutation_p.A1432V|NCOR2_uc010tba.2_Missense_Mutation_p.A1450V|NCOR2_uc001ugj.1_Missense_Mutation_p.A1450V	NM_006312	NP_006303	Q9Y618	NCOR2_HUMAN	Homo sapiens nuclear receptor corepressor 2 (NCOR2), transcript variant 1, mRNA.	1450					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|Notch binding|histone deacetylase binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		CGGCCGCGGGGCCAGGGGCAG	0.731000														9			4		0	0	0.00024832	0	0
TSLP	85480	broad.mit.edu	37	5	110407731	110407731	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:110407731C>T	uc003kpb.2	+	0	342	c.143C>T	c.(142-144)tCt>tTt	p.S48F	TSLP_uc003kpa.2_Non-coding_Transcript	NM_033035	NP_149024	Q969D9	TSLP_HUMAN	Homo sapiens thymic stromal lymphopoietin (TSLP), transcript variant 1, mRNA.	48						extracellular space	cytokine activity			breast(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(1)	11		all_cancers(142;2.72e-05)|all_epithelial(76;4.39e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0417)|Ovarian(225;0.0443)|Colorectal(57;0.0464)|all_lung(232;0.0507)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.24e-08)|Epithelial(69;1.54e-07)|all cancers(49;1.73e-05)|COAD - Colon adenocarcinoma(37;0.109)		AGTACTATTTCTAAAGACCTG	0.358000														46			18		0	0	0.00121646	0	0
NLRP7	199713	broad.mit.edu	37	19	55450450	55450450	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:55450450C>T	uc002qih.4	-	3	1813	c.1737G>A	c.(1735-1737)caG>caA	p.Q579Q	NLRP7_uc010esk.3_Silent_p.Q579Q|NLRP7_uc002qig.4_Silent_p.Q579Q|NLRP7_uc002qii.4_Silent_p.Q579Q|NLRP7_uc010esl.3_Silent_p.Q607Q	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN	Homo sapiens NLR family, pyrin domain containing 7 (NLRP7), transcript variant 2, mRNA.	579							ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		GCTCCTCCTCCTGAGACTCAT	0.493000														42			17		0	0	0.000958276	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140176535	140176535	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:140176535G>A	uc003lhd.2	+	0	2092	c.1986G>A	c.(1984-1986)acG>acA	p.T662T	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhc.1_Silent_p.T662T|PCDHAC2_uc011czy.2_Silent_p.T662T	NM_018905	NP_061728	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 2 (PCDHA2), transcript variant 1, mRNA.	673	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGACAGCCACGGCCACCGTGT	0.662000														52			22		0	0	0.00229938	0	0
USP43	124739	broad.mit.edu	37	17	9632076	9632076	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr17:9632076C>T	uc010cod.3	+	14	3141	c.3141C>T	c.(3139-3141)atC>atT	p.I1047I	USP43_uc002gma.4_Silent_p.I736I|USP43_uc010vva.2_Silent_p.I1042I|USP43_uc010coe.3_Silent_p.I844I|USP43_uc002gmc.4_Silent_p.I559I	NM_153210	NP_694942	Q70EL4	UBP43_HUMAN	Homo sapiens ubiquitin specific peptidase 43 (USP43), mRNA.	1047					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	26						CCCTCAGGATCCCAGAGGGCC	0.706000														2			9		0	0	0.000274275	0	0
ELAVL3	1995	broad.mit.edu	37	19	11565576	11565576	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:11565576T>C	uc002mry.1	-	6	1249	c.869A>G	c.(868-870)aAc>aGc	p.N290S	ELAVL3_uc002mrx.1_Missense_Mutation_p.N283S	NM_001420	NP_001411	Q14576	ELAV3_HUMAN	Homo sapiens ELAV (embryonic lethal, abnormal vision, Drosophila)-like 3 (Hu antigen C) (ELAVL3), transcript variant 1, mRNA.	290	RRM 3.				cell differentiation|nervous system development		AU-rich element binding|nucleotide binding			breast(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15						CGGTGACAGGTTGTACACGAA	0.652000														23			24		0	0	0.00278032	0	0
PCOLCE2	26577	broad.mit.edu	37	3	142539863	142539863	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:142539863G>A	uc003evd.3	-	7	1281	c.974C>T	c.(973-975)aCc>aTc	p.T325I		NM_013363	NP_037495	Q9UKZ9	PCOC2_HUMAN	Homo sapiens procollagen C-endopeptidase enhancer 2 (PCOLCE2), mRNA.	325	NTR.					extracellular region	collagen binding|heparin binding|peptidase activator activity			NS(1)|endometrium(1)|large_intestine(11)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	32						GCGAGTGATGGTTGTGATAAC	0.453000														34			22		0	0	0.000720815	0	0
ABCC9	10060	broad.mit.edu	37	12	21998642	21998642	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:21998642C>T	uc001rfh.3	-	23	3011	c.2991G>A	c.(2989-2991)atG>atA	p.M997I	ABCC9_uc001rfi.1_Missense_Mutation_p.M997I	NM_020297	NP_064693	O60706	ABCC9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 9 (ABCC9), transcript variant SUR2B, mRNA.	997	ABC transmembrane type-1 2.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	TAGAGAAAATCATCAGGATGA	0.438000														27			19		0	0	0.00152264	0	0
MUC16	94025	broad.mit.edu	37	19	9086951	9086952	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:9086951_9086952GG>AA	uc002mkp.3	-	0	5067_5068	c.4863_4864CC>TT	c.(4861-4866)ggccca>ggTTca	p.P1622S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	1622	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						ATGTTTGTTGGGCCAGTCTCAA	0.515000														120			30		0	0	6.4e-05	0	0
SHANK2	22941	broad.mit.edu	37	11	70333102	70333102	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:70333102G>A	uc001oqc.3	-	20	3210	c.3098C>T	c.(3097-3099)tCc>tTc	p.S1033F	SHANK2_uc010rqn.2_Missense_Mutation_p.S509F|SHANK2_uc001opz.3_Missense_Mutation_p.S504F|BC127192_uc009ysn.1_Intron|SHANK2_uc001opy.3_Intron	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 2 (SHANK2), transcript variant 1, mRNA.	720					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|SH3 domain binding|ionotropic glutamate receptor binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			GAAGGCCGGGGAGTTCCTCCT	0.697000														12			9		0	0	0.000274275	0	0
PLEKHG6	55200	broad.mit.edu	37	12	6422912	6422912	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:6422912C>T	uc001qnr.3	+	2	404	c.256C>T	c.(256-258)Cat>Tat	p.H86Y	PLEKHG6_uc001qns.3_Missense_Mutation_p.H86Y|PLEKHG6_uc010sew.2_Missense_Mutation_p.H86Y|PLEKHG6_uc010sex.2_Missense_Mutation_p.H54Y	NM_018173	NP_060643	Q3KR16	PKHG6_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 6 (PLEKHG6), transcript variant 1, mRNA.	86					regulation of Rho protein signal transduction	cleavage furrow|cytoplasm|spindle pole	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(4)	23						GCACGGGGGCCATGTGGGGGC	0.637000														33			16		0	0	0.00188189	0	0
TRERF1	55809	broad.mit.edu	37	6	42227184	42227184	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:42227184G>A	uc003ose.2	-	8	2785	c.2222C>T	c.(2221-2223)tCg>tTg	p.S741L	TRERF1_uc011duq.1_Missense_Mutation_p.S638L|TRERF1_uc003osb.2_Missense_Mutation_p.S477L|TRERF1_uc003osc.2_Missense_Mutation_p.S477L|TRERF1_uc003osd.2_Missense_Mutation_p.S721L	NM_033502	NP_277037	Q96PN7	TREF1_HUMAN	Homo sapiens transcriptional regulating factor 1 (TRERF1), mRNA.	721	Interacts with CREBBP.|Pro-rich.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GAAGAGCCCCGAGCCCTGGCG	0.731000														12			5		0	0	0.000602214	0	0
PDZRN4	29951	broad.mit.edu	37	12	41966907	41966907	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:41966907A>T	uc010skn.2	+	9	2334	c.2326A>T	c.(2326-2328)Atg>Ttg	p.M776L	PDZRN4_uc001rmq.4_Missense_Mutation_p.M518L|PDZRN4_uc009zjz.3_Missense_Mutation_p.M516L|PDZRN4_uc001rmr.3_Missense_Mutation_p.M403L	NM_001164595	NP_001158067	Q6ZMN7	PZRN4_HUMAN	Homo sapiens PDZ domain containing ring finger 4 (PDZRN4), transcript variant 1, mRNA.	776							ubiquitin-protein ligase activity|zinc ion binding	p.V775M(1)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				GAGAAGCACAATGGCAGCCAC	0.517000														88			35		0	0	0.000953801	0	0
KRTDAP	388533	broad.mit.edu	37	19	35979706	35979706	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:35979706C>T	uc002nzh.3	-	1	213	c.124G>A	c.(124-126)Gag>Aag	p.E42K	KRTDAP_uc021uso.1_Missense_Mutation_p.E42K	NM_207392	NP_997275	P60985	KTDAP_HUMAN	Homo sapiens keratinocyte differentiation-associated protein (KRTDAP), transcript variant 1, mRNA.	42					cell differentiation	extracellular region				breast(1)|lung(4)|prostate(1)	6	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			CGGCTTACCTCGGGTCGTGAC	0.552000														32			21		0	0	0.00229938	0	0
PPIAL4G	644591	broad.mit.edu	37	1	143767740	143767740	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:143767740G>A	uc001ejt.3	-	0	142	c.109C>T	c.(109-111)Cgt>Tgt	p.R37C		NM_001123068	NP_001116540	A2BFH1	PAL4G_HUMAN	Homo sapiens peptidylprolyl isomerase A (cyclophilin A)-like 4G (PPIAL4G), mRNA.	37	PPIase cyclophilin-type.				protein folding	cytoplasm	peptidyl-prolyl cis-trans isomerase activity			breast(1)|endometrium(2)|kidney(1)|lung(8)|ovary(1)|skin(1)	14						CTCAGAGCACGAAAGTTTTCT	0.478000														218			54		0	0	0.00361006	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140754405	140754405	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:140754405C>T	uc003ljy.2	+	0	755	c.755C>T	c.(754-756)cCt>cTt	p.P252L	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc011dau.2_Missense_Mutation_p.P252L	NM_018919	NP_061742	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 6 (PCDHGA6), transcript variant 1, mRNA.	252	Cadherin 3.				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)			GTAAGTGTTCCTGAAAACCTG	0.493000														23			10		0	0	0.00136819	0	0
NYAP2	57624	broad.mit.edu	37	2	226447550	226447550	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:226447550C>T	uc002voe.2	+	3	1592	c.1417C>T	c.(1417-1419)Cct>Tct	p.P473S	NYAP2_uc010fxa.1_Intron|NYAP2_uc002vof.1_Missense_Mutation_p.P243S	NM_020864	NP_065915	Q9P242	K1486_HUMAN	Homo sapiens neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2 (NYAP2), mRNA.	473	Pro-rich.																TCCTTCAGTGCCTCACTCGAC	0.662000														34			17		0	0	0.00074312	0	0
SLC26A8	116369	broad.mit.edu	37	6	35959503	35959503	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:35959503C>T	uc003olm.3	-	6	986	c.875G>A	c.(874-876)cGa>cAa	p.R292Q	SLC26A8_uc003oll.3_Intron|SLC26A8_uc003oln.3_Missense_Mutation_p.R292Q	NM_001193476	NP_443193	Q96RN1	S26A8_HUMAN	Homo sapiens solute carrier family 26, member 8 (SLC26A8), transcript variant 3, mRNA.	292					cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						TTTGTTGATTCGCAGAGCAAC	0.333000														29			25		0	0	0.00332997	0	0
CCDC102B	79839	broad.mit.edu	37	18	66678171	66678171	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr18:66678171G>A	uc002lkk.2	+	9	1487	c.1264_splice	c.e9-1	p.E422_splice	CCDC102B_uc002lki.2_Splice_Site_p.E422_splice	NM_001093729	NP_079057	Q68D86	C102B_HUMAN	Homo sapiens coiled-coil domain containing 102B (CCDC102B), transcript variant 1, mRNA.	422										breast(2)|endometrium(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|stomach(1)	36		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)				CCTTTGAAAGGAATTACTGAA	0.318000														24			4		0	0	0.00024832	0	0
XDH	7498	broad.mit.edu	37	2	31605980	31605980	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:31605980C>T	uc002rnv.1	-	10	1004	c.925G>A	c.(925-927)Gaa>Aaa	p.E309K		NM_000379	NP_000370	P47989	XDH_HUMAN	Homo sapiens xanthine dehydrogenase (XDH), mRNA.	309	FAD-binding PCMH-type.				purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	AGGGTTTTTTCCACAATGCTC	0.532000														35			14		0	0	0.00244969	0	0
ZFHX4	79776	broad.mit.edu	37	8	77764324	77764324	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr8:77764324C>T	uc003yau.2	+	9	5554	c.5167C>T	c.(5167-5169)Cct>Tct	p.P1723S	ZFHX4_uc003yaw.1_Missense_Mutation_p.P1678S	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	1678	Gln-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P1723T(2)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GCCTCATTTTCCTATGACCCC	0.473000										HNSCC(33;0.089)				43			23		0	0	0.00395357	0	0
KSR2	283455	broad.mit.edu	37	12	118105405	118105405	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:118105405C>T	uc001two.2	-	4	1013	c.958G>A	c.(958-960)Gag>Aag	p.E320K		NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN	Homo sapiens kinase suppressor of ras 2 (KSR2), mRNA.	349					intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGGATGTTCTCGCAGCTGCCT	0.552000														22			8		0	0	0.00307968	0	0
SCAND3	114821	broad.mit.edu	37	6	28543043	28543043	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:28543043C>T	uc003nlo.3	-	2	2057	c.1439G>A	c.(1438-1440)cGa>cAa	p.R480Q		NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN	Homo sapiens SCAN domain containing 3 (SCAND3), mRNA.	480	Integrase catalytic.				DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						AATCCTCTTTCGGATATCCTC	0.428000														94			27		0	0	0.000878237	0	0
PTCHD4	442213	broad.mit.edu	37	6	47846809	47846809	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:47846809C>T	uc011dwm.2	-	2	1805	c.1771G>A	c.(1771-1773)Gat>Aat	p.D591N	PTCHD4_uc011dwn.2_Missense_Mutation_p.D338N	NM_001013732	NP_001013754	Q6ZW05	CF138_HUMAN	Homo sapiens chromosome 6 open reading frame 138 (C6orf138), transcript variant 1, mRNA.	591						integral to membrane	hedgehog receptor activity										AAGATGATATCATTTCGAAAA	0.423000														30			10		0	0	0.000673444	0	0
PLA2G4C	8605	broad.mit.edu	37	19	48558162	48558162	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:48558162G>A	uc010xzd.2	-	14	1769	c.1432C>T	c.(1432-1434)Ccc>Tcc	p.P478S	PLA2G4C_uc002phw.3_Missense_Mutation_p.P403S|PLA2G4C_uc010elr.3_Missense_Mutation_p.P468S|PLA2G4C_uc002phx.3_Missense_Mutation_p.P468S	NM_001159322	NP_001152794	Q9UP65	PA24C_HUMAN	Homo sapiens phospholipase A2, group IVC (cytosolic, calcium-independent) (PLA2G4C), transcript variant 2, mRNA.	468	PLA2c.				arachidonic acid metabolic process|glycerophospholipid catabolic process|inflammatory response|intracellular signal transduction|parturition	cytosol|membrane	calcium-independent phospholipase A2 activity|phospholipid binding	p.P468T(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(12)|lung(13)|ovary(2)|prostate(1)|skin(3)	38		all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717)		TTGAACAGGGGAAAATGCATC	0.517000														66			20		0	0	0.00278032	0	0
B4GALNT4	338707	broad.mit.edu	37	11	380147	380147	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:380147G>A	uc001lpb.3	+	16	2669	c.2660G>A	c.(2659-2661)cGa>cAa	p.R887Q		NM_178537	NP_848632	Q76KP1	B4GN4_HUMAN	Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 4 (B4GALNT4), mRNA.	887						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TACCTGAGACGAACCGGGAAC	0.687000														13			5		0	0	0.00198382	0	0
CHD4	1108	broad.mit.edu	37	12	6715448	6715448	+	Missense_Mutation	SNP	G	A	A	rs138912992		TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:6715448G>A	uc001qpo.3	-	1	256	c.92C>T	c.(91-93)cCc>cTc	p.P31L	CHD4_uc001qpn.3_Missense_Mutation_p.P31L|CHD4_uc001qpp.3_Missense_Mutation_p.P31L	NM_001273	NP_001264	Q14839	CHD4_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 4 (CHD4), mRNA.	31					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	NuRD complex|microtubule organizing center	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						ACCTGGGTGGGGTGGGGGCAG	0.657000														25			19		0	0	0.00152264	0	0
IL2	3558	broad.mit.edu	37	4	123377456	123377456	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr4:123377456C>T	uc003ier.3	-	0	195	c.140G>A	c.(139-141)gGa>gAa	p.G47E		NM_000586	NP_000577	P60568	IL2_HUMAN	Homo sapiens interleukin 2 (IL2), mRNA.	47					T cell differentiation|anti-apoptosis|cell adhesion|cell-cell signaling|immune response|natural killer cell activation|negative regulation of B cell apoptosis|positive regulation of B cell proliferation|positive regulation of activated T cell proliferation|positive regulation of cell growth|positive regulation of interleukin-17 production|positive regulation of tyrosine phosphorylation of Stat5 protein	extracellular space	cytokine activity|growth factor activity|interleukin-2 receptor binding|kinase activator activity			endometrium(2)|large_intestine(4)|lung(6)|skin(1)	13				LUSC - Lung squamous cell carcinoma(721;0.185)		TACATTAATTCCATTCAAAAT	0.308000			T	TNFRSF17	intestinal T-cell lymphoma									27			10		0	0	0.000442599	0	0
MAPT	4137	broad.mit.edu	37	17	44039838	44039838	+	Splice_Site	SNP	T	C	C			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr17:44039838T>C	uc002ijr.4	+	2	455	c.133_splice	c.e2+2	p.E45_splice	MAPT_uc010dau.3_Splice_Site_p.E45_splice|MAPT_uc002ijs.4_Splice_Site_p.E45_splice|MAPT_uc002ijx.4_Splice_Site_p.E45_splice|MAPT_uc021tyv.1_Splice_Site_p.E45_splice|MAPT_uc002ijt.4_Splice_Site_p.A45_splice|MAPT_uc021tyw.1_Splice_Site_p.E45_splice|MAPT_uc002iju.4_Splice_Site_p.A45_splice	NM_016835	NP_058519	P10636	TAU_HUMAN	Homo sapiens microtubule-associated protein tau (MAPT), transcript variant 1, mRNA.	45					cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy	axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex	SH3 domain binding|apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|structural constituent of cytoskeleton			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		Melanoma(429;0.216)				GCCTGAAAGGTTAGTGGACAG	0.527000														12			9		0	0	0.000274275	0	0
LRRC4C	57689	broad.mit.edu	37	11	40137358	40137358	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:40137358C>T	uc021qgf.1	-	0	485	c.485G>A	c.(484-486)aGc>aAc	p.S162N	LRRC4C_uc001mxc.1_Missense_Mutation_p.S158N|LRRC4C_uc001mxd.1_Missense_Mutation_p.S158N|LRRC4C_uc001mxa.1_Missense_Mutation_p.S162N|LRRC4C_uc001mxb.1_Missense_Mutation_p.S158N	NM_020929	NP_065980	Q9HCJ2	LRC4C_HUMAN	Homo sapiens leucine rich repeat containing 4C (LRRC4C), mRNA.	162					regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				AGAAGGGATGCTTTCAATGGG	0.423000														51			14		0	0	0.000566183	0	0
OR3A2	4995	broad.mit.edu	37	17	3181445	3181445	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr17:3181445C>T	uc002fvg.3	-	0	824	c.785G>A	c.(784-786)gGa>gAa	p.G262E		NM_002551	NP_002542	P47893	OR3A2_HUMAN	Homo sapiens olfactory receptor, family 3, subfamily A, member 2 (OR3A2), mRNA.	262					sensory perception of smell	integral to plasma membrane	olfactory receptor activity			ovary(1)	1						GATACCTCTTCCAAAGAAAAG	0.502000														24			19		0	0	0.00152264	0	0
RDH13	112724	broad.mit.edu	37	19	55556545	55556545	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:55556545G>A	uc002qio.3	-	6	1078	c.893C>T	c.(892-894)cCc>cTc	p.P298L	RDH13_uc002qip.2_Missense_Mutation_p.P227L|RDH13_uc010esr.1_Non-coding_Transcript	NM_001145971	NP_612421	Q8NBN7	RDH13_HUMAN	Homo sapiens retinol dehydrogenase 13 (all-trans/9-cis) (RDH13), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	298							binding|oxidoreductase activity			endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.199)	GBM - Glioblastoma multiforme(193;0.0504)	Vitamin A(DB00162)	CTCAGCCTCGGGGGCCGGGGC	0.657000														32			21		0	0	0.00152264	0	0
PCDHB8	56128	broad.mit.edu	37	5	140558545	140558545	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:140558545C>T	uc011dai.2	+	0	1175	c.930C>T	c.(928-930)ttC>ttT	p.F310F	PCDHB16_uc003liv.3_5'Flank	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	Homo sapiens protocadherin beta 8 (PCDHB8), mRNA.	310	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AACTTGATTTCGAAAAATTTC	0.383000														184			28		0	0	0.00127121	0	0
HDAC9	9734	broad.mit.edu	37	7	18801810	18801810	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:18801810G>A	uc003sui.3	+	13	2115	c.2074G>A	c.(2074-2076)Gaa>Aaa	p.E692K	HDAC9_uc003sue.3_Missense_Mutation_p.E689K|HDAC9_uc011jyd.2_Missense_Mutation_p.E689K|HDAC9_uc003suh.3_Missense_Mutation_p.E689K|HDAC9_uc003suj.3_Missense_Mutation_p.E648K|HDAC9_uc003sua.1_Missense_Mutation_p.E667K	NM_178425	NP_848512	Q9UKV0	HDAC9_HUMAN	Homo sapiens histone deacetylase 9 (HDAC9), transcript variant 5, mRNA.	689	Histone deacetylase.				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity	p.E692*(2)		breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	CAGCCTGGAGGAAATACAGCT	0.483000														26			10		0	0	0.000978159	0	0
ADCY8	114	broad.mit.edu	37	8	131859750	131859750	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr8:131859750C>T	uc003ytd.4	-	10	2678	c.2422G>A	c.(2422-2424)Gat>Aat	p.D808N	ADCY8_uc010mds.3_Intron	NM_001115	NP_001106	P40145	ADCY8_HUMAN	Homo sapiens adenylate cyclase 8 (brain) (ADCY8), mRNA.	808					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			TTGTCAAAATCACACCACAGC	0.393000										HNSCC(32;0.087)				42			18		0	0	0.000958276	0	0
ASB5	140458	broad.mit.edu	37	4	177142371	177142371	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr4:177142371C>T	uc003iuq.2	-	4	719	c.605G>A	c.(604-606)gGa>gAa	p.G202E	ASB5_uc003iup.2_Missense_Mutation_p.G149E	NM_080874	NP_543150	Q8WWX0	ASB5_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 5 (ASB5), mRNA.	202					intracellular signal transduction					endometrium(2)|kidney(1)|large_intestine(9)|lung(18)|prostate(2)|skin(2)	34		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393)		GAGAGGAGTTCCCAAATGAGG	0.403000														44			26		0	0	0.000720815	0	0
CARS	833	broad.mit.edu	37	11	3047965	3047965	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:3047965G>A	uc001lxf.3	-	9	1178	c.1094C>T	c.(1093-1095)tCc>tTc	p.S365F	CARS_uc010qxo.2_Missense_Mutation_p.S365F|CARS_uc001lxe.3_Missense_Mutation_p.S272F|CARS_uc001lxg.3_Missense_Mutation_p.S282F|CARS_uc001lxh.3_Missense_Mutation_p.S282F|CARS_uc010qxp.2_Missense_Mutation_p.S295F|AX747870_uc001lxi.1_5'Flank	NM_001014437	NP_001014437	P49589	SYCC_HUMAN	Homo sapiens cysteinyl-tRNA synthetase (CARS), transcript variant 3, mRNA.	282					cysteinyl-tRNA aminoacylation	cytoplasm|cytosol	ATP binding|cysteine-tRNA ligase activity|metal ion binding|protein homodimerization activity|tRNA binding		CARS/ALK(5)	central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)	31		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00317)|LUSC - Lung squamous cell carcinoma(625;0.218)	L-Cysteine(DB00151)	CTTCCCATAGGAGTGCTTCTC	0.522000			T	ALK	ALCL									62			23		0	0	0.00332997	0	0
NBEAL1	65065	broad.mit.edu	37	2	203974915	203974916	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:203974915_203974916CC>AA	uc002uzt.3	+	13	2238_2239	c.1905_1906CC>AA	c.(1903-1908)acccat>acAAat	p.H636N		NM_001114132	NP_001107604	Q6ZS30	NBEL1_HUMAN	Homo sapiens neurobeachin-like 1 (NBEAL1), mRNA.	636							binding			NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						CCTTTATTACCCATTCAGGTAT	0.381000														569			15		0	0	6.4e-05	0	0
ANKRD20A9P	284232	broad.mit.edu	37	13	19413005	19413005	+	RNA	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr13:19413005G>A	uc010tcj.1	-	0		c.33105C>T								Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA.																		GATTACCTCTGAAGTTAAAGA	0.308000														54			18		0	0	0.00074312	0	0
LILRA1	11024	broad.mit.edu	37	19	55086445	55086445	+	Silent	SNP	G	A	A	rs141931276		TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:55086445G>A	uc010ern.3	+	4	1069	c.600G>A	c.(598-600)tcG>tcA	p.S200S	LILRA1_uc002qgg.4_Silent_p.S200S|LILRA1_uc002qgf.3_Silent_p.S200S|LILRA1_uc010yfe.1_Silent_p.S200S|LILRA1_uc010yff.1_Silent_p.S188S|LILRA1_uc010ero.3_Silent_p.S188S|LILRA1_uc010yfg.1_Silent_p.S200S			O75019	LIRA1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2 (LILRA2), transcript variant 2, mRNA.	202	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		CTTATGACTCGAACTCTCCCT	0.577000														92			36		0	0	0.00128727	0	0
NRG1	3084	broad.mit.edu	37	8	32621314	32621314	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr8:32621314C>T	uc003xiv.2	+	11	1834	c.1317C>T	c.(1315-1317)ttC>ttT	p.F439F	NRG1_uc022ats.1_Silent_p.F389F|NRG1_uc010lvo.2_3'UTR|NRG1_uc003xiu.2_Silent_p.F444F|NRG1_uc003xiw.2_Silent_p.F436F|NRG1_uc003xit.2_3'UTR|NRG1_uc010lvr.2_Silent_p.F181F|NRG1_uc010lvs.2_Silent_p.F181F|NRG1_uc010lvp.2_Silent_p.F393F|NRG1_uc010lvq.2_Silent_p.F369F|NRG1_uc011lbg.1_3'UTR|NRG1_uc011lbh.1_Silent_p.F282F|NRG1_uc003xja.2_Silent_p.F250F	NM_013964	NP_039258	Q02297	NRG1_HUMAN	Homo sapiens neuregulin 1 (NRG1), transcript variant HRG-alpha, mRNA.	439					Notch signaling pathway|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	ErbB-3 class receptor binding|cytokine activity|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		CTGTAGATTTCCACACGCCAA	0.557000														68			25		0	0	0.00178596	0	0
LRBA	987	broad.mit.edu	37	4	151770044	151770044	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr4:151770044G>A	uc010ipj.3	-	25	4509	c.4265C>T	c.(4264-4266)tCt>tTt	p.S1422F	LRBA_uc003ilt.4_Missense_Mutation_p.S81F|LRBA_uc003ilu.4_Missense_Mutation_p.S1422F	NM_006726	NP_006717	P50851	LRBA_HUMAN	Homo sapiens LPS-responsive vesicle trafficking, beach and anchor containing (LRBA), transcript variant 2, mRNA.	1422						Golgi apparatus|endoplasmic reticulum|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					AAAGCCAAGAGAACTTGCAAA	0.413000														111			36		0	0	0.00148497	0	0
SDK2	54549	broad.mit.edu	37	17	71348736	71348736	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr17:71348736C>T	uc010dfm.3	-	40	5634	c.5634G>A	c.(5632-5634)aaG>aaA	p.K1878K	SDK2_uc002jjt.4_Silent_p.K1018K|SDK2_uc002jjv.1_Non-coding_Transcript	NM_001144952	NP_001138424	Q58EX2	SDK2_HUMAN	Homo sapiens sidekick cell adhesion molecule 2 (SDK2), mRNA.	1878	Fibronectin type-III 13.				cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						AGCTCACCTCCTTGGGGATGT	0.597000														38			14		0	0	0.00400662	0	0
TUBGCP3	10426	broad.mit.edu	37	13	113223516	113223516	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr13:113223516G>A	uc001vse.1	-	1	321	c.134C>T	c.(133-135)cCa>cTa	p.P45L	TUBGCP3_uc010tjq.1_Missense_Mutation_p.P45L|TUBGCP3_uc001vsf.3_Missense_Mutation_p.P45L|TUBGCP3_uc001vsg.1_Missense_Mutation_p.P45L	NM_006322	NP_006313	Q96CW5	GCP3_HUMAN	Homo sapiens tubulin, gamma complex associated protein 3 (TUBGCP3), mRNA.	45					G2/M transition of mitotic cell cycle|microtubule nucleation|single fertilization	centriole|cytosol|polar microtubule	gamma-tubulin binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|urinary_tract(1)	25	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)					TTCAACAGTTGGGGCGAAGTT	0.418000														65			21		0	0	0.00395357	0	0
SLC24A3	57419	broad.mit.edu	37	20	19665797	19665797	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr20:19665797C>T	uc002wrl.3	+	11	1313	c.1116C>T	c.(1114-1116)gcC>gcT	p.A372A		NM_020689	NP_065740	Q9HC58	NCKX3_HUMAN	Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 3 (SLC24A3), mRNA.	372						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CTGAGGTGGCCATCAAAATCC	0.537000														50			28		0	0	0.00127121	0	0
VCAM1	7412	broad.mit.edu	37	1	101197031	101197031	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:101197031C>T	uc001dti.3	+	5	1703	c.1482C>T	c.(1480-1482)ttC>ttT	p.F494F	VCAM1_uc010ouj.2_Silent_p.F432F|VCAM1_uc001dtj.3_Silent_p.F402F	NM_001078	NP_001069	P19320	VCAM1_HUMAN	Homo sapiens vascular cell adhesion molecule 1 (VCAM1), transcript variant 1, mRNA.	494	Ig-like C2-type 5.				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	ACATGGAATTCGAACCCAAAC	0.378000														60			26		0	0	0.00209593	0	0
PPL	5493	broad.mit.edu	37	16	4935273	4935273	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr16:4935273C>T	uc002cyd.1	-	21	3473	c.3383G>A	c.(3382-3384)aGg>aAg	p.R1128K		NM_002705	NP_002696	O60437	PEPL_HUMAN	Homo sapiens periplakin (PPL), mRNA.	1128					keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						GCTGACCTCCCTCTCGGTGGC	0.617000														22			10		0	0	0.000442599	0	0
TRPC4	7223	broad.mit.edu	37	13	38211422	38211422	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr13:38211422C>T	uc010abx.3	-	10	2802	c.2567G>A	c.(2566-2568)cGa>cAa	p.R856Q	TRPC4_uc010abv.3_Missense_Mutation_p.R431Q|TRPC4_uc001uwt.3_Intron|TRPC4_uc001uws.3_Missense_Mutation_p.R851Q|TRPC4_uc010tey.2_Intron|TRPC4_uc010abw.3_Missense_Mutation_p.R678Q|TRPC4_uc010aby.3_Intron	NM_003306	NP_003297	Q9UBN4	TRPC4_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 4 (TRPC4), transcript variant epsilon, mRNA.	851	Binds to ITPR1, ITPR2 and ITPR3.				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		TTGTTTTGATCGTCTATGAAA	0.438000														33			17		0	0	0.00074312	0	0
PAPOLB	56903	broad.mit.edu	37	7	4900186	4900186	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:4900186G>A	uc003snk.3	-	0	1440	c.1256C>T	c.(1255-1257)cCa>cTa	p.P419L	RADIL_uc003sng.1_Intron|RADIL_uc003snj.1_Intron|RADIL_uc011jwd.1_Intron	NM_020144	NP_064529	Q9NRJ5	PAPOB_HUMAN	Homo sapiens poly(A) polymerase beta (testis specific) (PAPOLB), mRNA.	418					RNA polyadenylation|mRNA processing|transcription, DNA-dependent	nucleus	ATP binding|RNA binding|metal ion binding|polynucleotide adenylyltransferase activity			kidney(1)|large_intestine(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	14		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14)		AAATGACTGTGGATTCACATG	0.403000														181			86		0	0	0.00361006	0	0
SSPO	23145	broad.mit.edu	37	7	149500813	149500813	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:149500813G>A	uc010lpk.3	+	54	8122	c.8122G>A	c.(8122-8124)Ggc>Agc	p.G2708S		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	2711					cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CCAACCAGGGGGCTGCCCCCT	0.692000														10			6		0	0	0.00116845	0	0
PYGO2	90780	broad.mit.edu	37	1	154932030	154932030	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:154932030G>A	uc001fft.3	-	2	652	c.446C>T	c.(445-447)cCc>cTc	p.P149L		NM_138300	NP_612157	Q9BRQ0	PYGO2_HUMAN	Homo sapiens pygopus homolog 2 (Drosophila) (PYGO2), mRNA.	149	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding|zinc ion binding			endometrium(2)|large_intestine(2)|lung(3)|skin(2)|urinary_tract(1)	10	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			AGGACCCTGGGGGGGCATGTT	0.627000														25			10		0	0	0.000978159	0	0
C12orf63	374467	broad.mit.edu	37	12	97073486	97073486	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:97073486G>A	uc021rcc.1	+	6	1025	c.947G>A	c.(946-948)cGa>cAa	p.R316Q				Q6ZTY8	CL063_HUMAN	RecName: Full=Putative uncharacterized protein C12orf63;	316										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						AGATCAATCCGACACAGCAGA	0.453000														82			40		0	0	0.00222228	0	0
C10orf81	79949	broad.mit.edu	37	10	115527213	115527213	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr10:115527213G>A	uc001lat.2	+	3	878	c.316G>A	c.(316-318)Gaa>Aaa	p.E106K	C10orf81_uc009xyc.2_Missense_Mutation_p.E24K|C10orf81_uc001lar.2_Missense_Mutation_p.E112K|C10orf81_uc001las.2_Missense_Mutation_p.E24K	NM_182601	NP_872407	Q5SXH7	CJ081_HUMAN	Homo sapiens chromosome 10 open reading frame 81 (C10orf81), transcript variant 1, mRNA.	106	PH.									central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)	15		Colorectal(252;0.175)		Epithelial(162;0.0181)|all cancers(201;0.0204)		CACTAACAGGGAATACTTCCT	0.388000														27			19		0	0	0.00152264	0	0
GPR149	344758	broad.mit.edu	37	3	154146580	154146580	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:154146580G>A	uc003faa.3	-	0	925	c.825C>T	c.(823-825)ttC>ttT	p.F275F		NM_001038705	NP_001033794	Q86SP6	GP149_HUMAN	Homo sapiens G protein-coupled receptor 149 (GPR149), mRNA.	275						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)			CACCCGGTCCGAACACGGTGT	0.677000														21			11		0	0	0.000673444	0	0
TRERF1	55809	broad.mit.edu	37	6	42231058	42231058	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:42231058G>A	uc003ose.2	-	7	2447	c.1884C>T	c.(1882-1884)ctC>ctT	p.L628L	TRERF1_uc011duq.1_Intron|TRERF1_uc003osb.2_Intron|TRERF1_uc003osc.2_Intron|TRERF1_uc003osd.2_Splice_Site_p.L628_splice	NM_033502	NP_277037	Q96PN7	TREF1_HUMAN	Homo sapiens transcriptional regulating factor 1 (TRERF1), mRNA.	628	Interacts with CREBBP.|Pro-rich.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			TCATCCTCACGAGCACAGGCA	0.667000														52			9		0	0	0.000274275	0	0
MAPK4	5596	broad.mit.edu	37	18	48190850	48190850	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr18:48190850C>T	uc002lev.3	+	1	1522	c.522C>T	c.(520-522)atC>atT	p.I174I	MAPK4_uc010xdm.2_Intron|MAPK4_uc010doz.3_Silent_p.I174I	NM_002747	NP_002738	P31152	MK04_HUMAN	Homo sapiens mitogen-activated protein kinase 4 (MAPK4), mRNA.	174	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)		TGGCAAGGATCGTTGATCAGC	0.532000														49			23		0	0	0.000720815	0	0
LPIN3	64900	broad.mit.edu	37	20	39978916	39978916	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr20:39978916G>A	uc010ggh.3	+	6	1075	c.984G>A	c.(982-984)gaG>gaA	p.E328E	LPIN3_uc002xjx.3_Silent_p.E327E|LPIN3_uc010zwf.2_Non-coding_Transcript	NM_022896	NP_075047	Q9BQK8	LPIN3_HUMAN	Homo sapiens lipin 3 (LPIN3), mRNA.	327					fatty acid metabolic process	nucleus	phosphatidate phosphatase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Myeloproliferative disorder(115;0.000739)				CAGAGACAGAGGAAAGCAAGA	0.617000														27			9		0	0	0.000274275	0	0
RCOR3	55758	broad.mit.edu	37	1	211487014	211487014	+	Silent	SNP	C	T	T	rs139368264		TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:211487014C>T	uc010psw.2	+	11	1761	c.1566C>T	c.(1564-1566)ccC>ccT	p.P522P	RCOR3_uc001hif.3_3'UTR|RCOR3_uc001hig.3_Silent_p.P464P|RCOR3_uc009xcz.3_Non-coding_Transcript	NM_001136223	NP_060724	Q9P2K3	RCOR3_HUMAN	Homo sapiens REST corepressor 3 (RCOR3), transcript variant 1, mRNA.	464					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.00961)|all cancers(67;0.0999)|Epithelial(68;0.171)		CCATGCCACCCCGTCTAAACC	0.527000														55			22		0	0	0.00332997	0	0
FAM167A	83648	broad.mit.edu	37	8	11301779	11301779	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr8:11301779C>T	uc010lry.1	-	1	762	c.142G>A	c.(142-144)Gaa>Aaa	p.E48K	FAM167A_uc003wtw.2_Missense_Mutation_p.E48K	NM_053279	NP_444509	Q96KS9	F167A_HUMAN	Homo sapiens family with sequence similarity 167, member A (FAM167A), mRNA.	48										breast(1)|endometrium(1)|large_intestine(4)|lung(2)|prostate(1)	9						GCCTGCCATTCCAGGTAGGAG	0.706000														37			17		0	0	0.000958276	0	0
PALM2-AKAP2	445815	broad.mit.edu	37	9	112778290	112778290	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr9:112778290G>A	uc004bei.2	+	7	1441	c.1249G>A	c.(1249-1251)Gaa>Aaa	p.E417K	PALM2-AKAP2_uc004bej.4_Missense_Mutation_p.E185K|PALM2-AKAP2_uc004bek.4_Missense_Mutation_p.E185K|PALM2-AKAP2_uc004bel.1_5'UTR	NM_001136562	NP_001130034	Q9Y2D5	AKAP2_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 2 (AKAP2), transcript variant 2, mRNA.	0							enzyme binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						GAACGCCACAGAAACATCCGG	0.473000														47			29		0	0	0.00375469	0	0
STXBP4	252983	broad.mit.edu	37	17	53084923	53084923	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr17:53084923C>T	uc002iuf.1	+	7	838	c.631C>T	c.(631-633)Ccc>Tcc	p.P211S	STXBP4_uc010dcc.1_Missense_Mutation_p.P136S|STXBP4_uc010dcd.1_Missense_Mutation_p.P211S	NM_178509	NP_848604	Q6ZWJ1	STXB4_HUMAN	Homo sapiens syntaxin binding protein 4 (STXBP4), mRNA.	211						cytoplasm	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19						CTCCCTAAATCCCTCTGTTCG	0.368000														455			139		0	0	0.00361006	0	0
GPR115	221393	broad.mit.edu	37	6	47681738	47681738	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:47681738G>A	uc003oyz.1	+	6	928	c.928G>A	c.(928-930)Gag>Aag	p.E310K	GPR115_uc003oza.1_Missense_Mutation_p.E253K|GPR115_uc003ozb.1_Missense_Mutation_p.E253K|RN7SK_uc021zaf.1_5'Flank	NM_153838	NP_722580	Q8IZF3	GP115_HUMAN	Homo sapiens G protein-coupled receptor 115 (GPR115), mRNA.	253					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						TAATACCTCAGAGAAAAGCCT	0.403000														50			19		0	0	0.000958276	0	0
TKTL2	84076	broad.mit.edu	37	4	164393571	164393571	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr4:164393571G>A	uc003iqp.4	-	0	1477	c.1316C>T	c.(1315-1317)gCc>gTc	p.A439V		NM_032136	NP_115512	Q9H0I9	TKTL2_HUMAN	Homo sapiens transketolase-like 2 (TKTL2), mRNA.	439						cytoplasm	metal ion binding|transketolase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				TCGGAACATGGCTAGATCCTC	0.483000														59			25		0	0	0.000878237	0	0
C1orf94	84970	broad.mit.edu	37	1	34666597	34666597	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:34666597C>T	uc001bxt.3	+	2	2072	c.1234C>T	c.(1234-1236)Cga>Tga	p.R412*	C1orf94_uc001bxs.4_Nonsense_Mutation_p.R222*	NM_001134734	NP_116273	Q6P1W5	CA094_HUMAN	Homo sapiens chromosome 1 open reading frame 94 (C1orf94), transcript variant 1, mRNA.	222							protein binding	p.R222*(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32		Myeloproliferative disorder(586;0.0393)				GCCGAGACTTCGAAACAAAGT	0.577000														7			5		0	0	0.000602214	0	0
C1orf106	55765	broad.mit.edu	37	1	200878057	200878057	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:200878057G>A	uc001gvo.3	+	6	1071	c.1029G>A	c.(1027-1029)tgG>tgA	p.W343*	C1orf106_uc010ppm.2_Nonsense_Mutation_p.W258*	NM_018265	NP_001136041	Q3KP66	CA106_HUMAN	Homo sapiens chromosome 1 open reading frame 106 (C1orf106), transcript variant 1, mRNA.	343	Pro-rich.									endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2)	21						CTGAGCCCTGGAGCGAGTCCA	0.632000														14			8		0	0	0.00307968	0	0
MGAM	8972	broad.mit.edu	37	7	141732706	141732706	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:141732706C>T	uc003vwy.3	+	13	1720	c.1666C>T	c.(1666-1668)Ccc>Tcc	p.P556S		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	556	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CCCATTCACTCCCAGTAAGTC	0.378000														14			8		0	0	0.000274275	0	0
ACSM1	116285	broad.mit.edu	37	16	20682950	20682950	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr16:20682950C>T	uc002dhm.1	-	3	723	c.655G>A	c.(655-657)Gac>Aac	p.D219N	ACSM1_uc002dhn.1_Non-coding_Transcript|ACSM1_uc010bwg.1_Missense_Mutation_p.D219N	NM_052956	NP_443188	Q08AH1	ACSM1_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 1 (ACSM1), mRNA.	219					benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	ATP binding|GTP binding|acyl-CoA ligase activity|butyrate-CoA ligase activity|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						ACCATTGGGTCCAAGGTCTTT	0.483000														53			23		0	0	0.00332997	0	0
PAK7	57144	broad.mit.edu	37	20	9543585	9543585	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr20:9543585C>T	uc002wnl.2	-	6	2114	c.1569G>A	c.(1567-1569)atG>atA	p.M523I	PAK7_uc002wnk.2_Missense_Mutation_p.M523I|PAK7_uc002wnj.2_Missense_Mutation_p.M523I|PAK7_uc010gby.1_Missense_Mutation_p.M523I	NM_020341	NP_817127	Q9P286	PAK7_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 7 (PAK7), transcript variant 1, mRNA.	523	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity			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)			CTAGAAACTCCATGACCACCC	0.498000														81			37		0	0	0.00170553	0	0
FAT2	2196	broad.mit.edu	37	5	150947743	150947743	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:150947743G>A	uc003lue.4	-	0	763	c.750C>T	c.(748-750)ctC>ctT	p.L250L	FAT2_uc010jhx.1_Silent_p.L250L	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA.	250	Cadherin 2.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGGGCTTCCTGAGGGCAGGCT	0.567000														17			12		0	0	0.000978159	0	0
COL7A1	1294	broad.mit.edu	37	3	48617237	48617237	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:48617237C>T	uc003ctz.2	-	56	5136	c.5135G>A	c.(5134-5136)gGa>gAa	p.G1712E	COL7A1_uc021wxp.1_5'Flank	NM_000094	NP_000085	Q02388	CO7A1_HUMAN	Homo sapiens collagen, type VII, alpha 1 (COL7A1), mRNA.	1712	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity	p.G1712V(2)|p.G1712R(1)		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)		GGCTCCAGGTCCTGTGTCTAC	0.582000														27			20		0	0	0.00278032	0	0
OR8H1	219469	broad.mit.edu	37	11	56057731	56057731	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:56057731C>T	uc010rje.2	-	0	808	c.808G>A	c.(808-810)Gat>Aat	p.D270N		NM_001005199	NP_001005199	Q8NGG4	OR8H1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily H, member 1 (OR8H1), mRNA.	270					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Esophageal squamous(21;0.00448)					GCCACTTGATCCCTTCCCAAA	0.338000														35			24		0	0	0.00278032	0	0
CERS4	79603	broad.mit.edu	37	19	8319473	8319473	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:8319473C>T	uc002mjg.3	+	3	584	c.264C>T	c.(262-264)ttC>ttT	p.F88F	CERS4_uc002mji.3_5'UTR|CERS4_uc010dvz.3_Silent_p.F88F	NM_024552	NP_078828	Q9HA82	CERS4_HUMAN	Homo sapiens ceramide synthase 4 (CERS4), mRNA.	88						endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity										AGAAACACTTCCTCACGGAAG	0.652000														7			4		0	0	0.000602214	0	0
PARP9	83666	broad.mit.edu	37	3	122269585	122269585	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:122269585G>A	uc010hri.3	-	5	1422	c.1277C>T	c.(1276-1278)tCc>tTc	p.S426F	PARP9_uc003eff.4_Missense_Mutation_p.S391F|PARP9_uc011bjs.2_Missense_Mutation_p.S391F|PARP9_uc003efg.3_Intron|PARP9_uc003efi.3_Missense_Mutation_p.S391F|PARP9_uc003efh.3_Missense_Mutation_p.S426F|PARP9_uc003efj.2_Missense_Mutation_p.S391F	NM_001146102	NP_113646	Q8IXQ6	PARP9_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 9 (PARP9), transcript variant 2, mRNA.	426	Macro 2.				cell migration	cytosol|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding			endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	34				GBM - Glioblastoma multiforme(114;0.0519)		GGCAGGAAAGGAAATGGAAGT	0.348000														32			17		0	0	0.000566183	0	0
DNAH9	1770	broad.mit.edu	37	17	11631209	11631209	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr17:11631209C>T	uc002gne.3	+	27	5852	c.5784C>T	c.(5782-5784)tcC>tcT	p.S1928S	DNAH9_uc010coo.3_Silent_p.S1222S	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	1928	AAA 1 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		ATCGAATCTCCGTGGAGGTCT	0.483000														11			12		0	0	0.00185496	0	0
OR56A5	390084	broad.mit.edu	37	11	5989611	5989611	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:5989611G>A	uc010qzu.2	-	0	114	c.114C>T	c.(112-114)ttC>ttT	p.F38F		NM_001146033	NP_001139505	P0C7T3	O56A5_HUMAN	Homo sapiens olfactory receptor, family 56, subfamily A, member 5 (OR56A5), mRNA.	38						integral to membrane|plasma membrane	olfactory receptor activity										TGGCCAGGAGGAAGAGGAGGC	0.572000														11			4		0	0	0.00024832	0	0
SCN7A	6332	broad.mit.edu	37	2	167322343	167322343	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:167322343C>T	uc002udu.2	-	6	949	c.819G>A	c.(817-819)gaG>gaA	p.E273E	SCN7A_uc010fpm.2_Non-coding_Transcript	NM_002976	NP_002967	Q01118	SCN7A_HUMAN	Homo sapiens sodium channel, voltage-gated, type VII, alpha (SCN7A), transcript variant 1, mRNA.	273					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.Q272*(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						CATTTTCATTCTCTTGGGGCC	0.363000														83			35		0	0	0.00170553	0	0
HHAT	55733	broad.mit.edu	37	1	210637944	210637944	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:210637944C>T	uc010psr.2	+	6	1060	c.955C>T	c.(955-957)Cca>Tca	p.P319S	HHAT_uc009xcx.3_Missense_Mutation_p.P318S|HHAT_uc010psq.2_Missense_Mutation_p.P181S|HHAT_uc009xcy.3_Missense_Mutation_p.P253S|HHAT_uc010pss.2_Missense_Mutation_p.P273S|HHAT_uc010pst.2_Missense_Mutation_p.P255S|HHAT_uc001hhz.4_Missense_Mutation_p.P318S|HHAT_uc021pip.1_Missense_Mutation_p.P318S|HHAT_uc010psu.2_Missense_Mutation_p.P253S|HHAT_uc001hia.4_Missense_Mutation_p.P8S	NM_001170587	NP_001164058	Q5VTY9	HHAT_HUMAN	Homo sapiens hedgehog acyltransferase (HHAT), transcript variant 5, mRNA.	318					multicellular organismal development	endoplasmic reticulum membrane|integral to membrane	GTP binding			breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215)		TGGACTCACTCCACCCGCCCT	0.587000														44			28		0	0	0.000878237	0	0
CHAD	1101	broad.mit.edu	37	17	48542684	48542684	+	Missense_Mutation	SNP	C	T	T	rs142153342		TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr17:48542684C>T	uc010dbr.3	-	2	1108	c.1055G>A	c.(1054-1056)aGg>aAg	p.R352K	ACSF2_uc002iqu.2_Intron|ACSF2_uc010wml.1_Intron|ACSF2_uc010wmm.1_Intron|ACSF2_uc010wmn.1_Intron|ACSF2_uc010wmo.1_Intron|CHAD_uc010dbs.3_Missense_Mutation_p.R352K	NM_001267	NP_001258	O15335	CHAD_HUMAN	Homo sapiens chondroadherin (CHAD), mRNA.	352					regulation of cell growth	proteinaceous extracellular matrix	extracellular matrix structural constituent			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(2)|ovary(2)	15	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			TTTCTTGGACCTCTTGGTGGG	0.592000														22			19		0	0	0.00188189	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43777712	43777712	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:43777712C>T	uc010skx.2	-	29	4521	c.4521G>A	c.(4519-4521)caG>caA	p.Q1507Q		NM_025003	NP_079279	P59510	ATS20_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 20 (ADAMTS20), mRNA.	1507	TSP type-1 12.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		CTTCAACCACCTGACCAACAC	0.502000														43			29		0	0	0.00127121	0	0
HEATR7B2	133558	broad.mit.edu	37	5	41054925	41054925	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:41054925G>A	uc003jmj.4	-	10	1541	c.1051C>T	c.(1051-1053)Cac>Tac	p.H351Y	HEATR7B2_uc003jmi.4_Intron	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	351							binding			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4)	133						GAAATGATGTGATCCCTCAAC	0.373000														61			29		0	0	0.0024448	0	0
MARC2	54996	broad.mit.edu	37	1	220955232	220955232	+	Silent	SNP	C	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:220955232C>A	uc001hmq.3	+	6	1195	c.997C>A	c.(997-999)Cgg>Agg	p.R333R	MARC2_uc001hmr.3_Silent_p.R333R|MARC2_uc009xdx.3_Intron	NM_017898	NP_060368	Q969Z3	MOSC2_HUMAN	Homo sapiens mitochondrial amidoxime reducing component 2 (MARC2), nuclear gene encoding mitochondrial protein, mRNA.	333	MOSC.					mitochondrial outer membrane|peroxisome	molybdenum ion binding|oxidoreductase activity|pyridoxal phosphate binding										CCCTGTGTATCGGATGGTGTA	0.433000														98			37		1.22674e-20	3.87847e-20	0.00195071	1	0
CCDC141	285025	broad.mit.edu	37	2	179732807	179732807	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:179732807G>A	uc002une.2	-	15	2638	c.2520C>T	c.(2518-2520)ctC>ctT	p.L840L	CCDC141_uc002unf.1_Silent_p.L319L	NM_173648	NP_775919	Q6ZP82	CC141_HUMAN	Homo sapiens coiled-coil domain containing 141 (CCDC141), mRNA.	265	Ig-like.						protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			CCAGTCTGTGGAGATGGTCTA	0.512000														50			16		0	0	0.00121646	0	0
SETX	23064	broad.mit.edu	37	9	135139746	135139746	+	Silent	SNP	G	A	A	rs80296256	by1000genomes	TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr9:135139746G>A	uc004cbk.3	-	25	8097	c.7914C>T	c.(7912-7914)ttC>ttT	p.F2638F	SETX_uc004cbj.3_Silent_p.F2286F|SETX_uc010mzt.3_Silent_p.F2224F	NM_015046	NP_055861	Q7Z333	SETX_HUMAN	Homo sapiens senataxin (SETX), mRNA.	2638					RNA processing|cell death|double-strand break repair	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		CCCCTTCACTGAAAGCCCTGG	0.592000														194			150		0	0	0.00361006	0	0
C20orf152	140894	broad.mit.edu	37	20	34596326	34596326	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr20:34596326G>A	uc002xer.1	+	8	1234	c.1078G>A	c.(1078-1080)Ggg>Agg	p.G360R	C20orf152_uc002xes.1_Missense_Mutation_p.G360R|C20orf152_uc010gfp.1_Non-coding_Transcript	NM_080834	NP_543024	Q96M20	CT152_HUMAN	Homo sapiens chromosome 20 open reading frame 152 (C20orf152), transcript variant 1, mRNA.	360										breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(1)	18	Breast(12;0.00631)					GGGGCTACAGGGGACAAGCTT	0.493000														56			31		0	0	0.00327116	0	0
AVP	551	broad.mit.edu	37	20	3065240	3065240	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr20:3065240C>T	uc002whu.3	-	0	131	c.81G>A	c.(79-81)agG>agA	p.R27R		NM_000490	NP_000481	P01185	NEU2_HUMAN	Homo sapiens arginine vasopressin (AVP), mRNA.	27					ERK1 and ERK2 cascade|cell-cell signaling|generation of precursor metabolites and energy|negative regulation of apoptosis|negative regulation of release of cytochrome c from mitochondria|positive regulation of gene expression|positive regulation of peptidyl-serine phosphorylation|protein kinase C signaling cascade|sodium-independent organic anion transport|transmembrane transport|vasoconstriction|water transport	cytosol|soluble fraction	V1A vasopressin receptor binding|caspase inhibitor activity|neurohypophyseal hormone activity|protein kinase activity|signal transducer activity			central_nervous_system(1)|prostate(1)|skin(1)	3				COAD - Colon adenocarcinoma(99;0.00643)		TCTTGCCGCCCCTCGGGCAGT	0.647000														83			29		0	0	0.00327116	0	0
EPPK1	83481	broad.mit.edu	37	8	144941947	144941947	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr8:144941947C>T	uc003zaa.1	-	0	5488	c.5475G>A	c.(5473-5475)gaG>gaA	p.E1825E		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	1825						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CCAGCAATTTCTCCAGGCCCC	0.547000														103			56		0	0	0.00361006	0	0
NLRP5	126206	broad.mit.edu	37	19	56539225	56539225	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:56539225G>A	uc002qmj.3	+	6	1626	c.1626G>A	c.(1624-1626)agG>agA	p.R542R	NLRP5_uc002qmi.3_Silent_p.R523R	NM_153447	NP_703148	P59047	NALP5_HUMAN	Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA.	542	NACHT.					mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		TGTGGAATAGGAAGTCAGTGT	0.562000														18			6		0	0	0.00116845	0	0
IL4	3565	broad.mit.edu	37	5	132018273	132018273	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:132018273G>A	uc003kxk.1	+	3	826	c.456G>A	c.(454-456)tcG>tcA	p.S152S	IL4_uc003kxl.1_Silent_p.S136S	NM_000589	NP_000580	P05112	IL4_HUMAN	Homo sapiens interleukin 4 (IL4), transcript variant 1, mRNA.	152					B cell differentiation|T-helper 2 cell cytokine production|cellular defense response|chemotaxis|cholesterol metabolic process|connective tissue growth factor biosynthetic process|negative regulation of apoptosis|negative regulation of osteoclast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of MHC class II biosynthetic process|positive regulation of T cell differentiation|positive regulation of interleukin-13 production|positive regulation of isotype switching to IgE isotypes|positive regulation of isotype switching to IgG isotypes|positive regulation of transcription from RNA polymerase II promoter	extracellular space	cytokine activity|growth factor activity|interleukin-4 receptor binding	p.S152L(1)		NS(1)|large_intestine(3)|lung(3)|prostate(1)	8		all_cancers(142;2.81e-05)|all_lung(232;1.47e-05)|Lung NSC(810;2.31e-05)|all_neural(839;0.0459)|Ovarian(839;0.0481)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	GBM - Glioblastoma multiforme(465;0.00245)		CAAAGTGTTCGAGCTGAATAT	0.299000														40			11		0	0	0.000673444	0	0
ENC1	8507	broad.mit.edu	37	5	73931665	73931665	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:73931665T>C	uc003kdc.4	-	1	1777	c.646A>G	c.(646-648)Aac>Gac	p.N216D	ENC1_uc011css.2_Missense_Mutation_p.N143D|ENC1_uc021yao.1_Missense_Mutation_p.N216D	NM_003633	NP_003624	O14682	ENC1_HUMAN	Homo sapiens ectodermal-neural cortex 1 (with BTB-like domain) (ENC1), mRNA.	216					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)		CTGATCCAGTTAATTGCAGAC	0.498000														45			21		0	0	0.00152264	0	0
GRM4	2914	broad.mit.edu	37	6	34008079	34008079	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:34008079T>C	uc003oir.4	-	6	1745	c.1382A>G	c.(1381-1383)aAc>aGc	p.N461S	GRM4_uc011dsn.2_Missense_Mutation_p.N414S|GRM4_uc010jvh.3_Missense_Mutation_p.N461S|GRM4_uc010jvi.3_Missense_Mutation_p.N153S|GRM4_uc003oio.3_Missense_Mutation_p.N153S|GRM4_uc003oip.3_Non-coding_Transcript|GRM4_uc011dsl.2_Missense_Mutation_p.N321S|GRM4_uc003oiq.3_Missense_Mutation_p.N328S|GRM4_uc011dsm.2_Missense_Mutation_p.N292S	NM_000841	NP_000832	Q14833	GRM4_HUMAN	Homo sapiens glutamate receptor, metabotropic 4 (GRM4), mRNA.	461					activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48					L-Glutamic Acid(DB00142)	GGTCACAGGGTTCCCTGCGAT	0.577000														91			24		0	0	0.00395357	0	0
PLXNA3	55558	broad.mit.edu	37	X	153698863	153698863	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chrX:153698863G>A	uc004flm.3	+	29	5238	c.5065G>A	c.(5065-5067)Gcc>Acc	p.A1689T		NM_017514	NP_059984	P51805	PLXA3_HUMAN	Homo sapiens plexin A3 (PLXNA3), mRNA.	1689					axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CCTGCCCCTGGCCATCAAGTA	0.612000														19			30		0	0	0.00178596	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37451713	37451713	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr10:37451713G>A	uc021ppc.1	+	16	1870	c.1771G>A	c.(1771-1773)Gaa>Aaa	p.E591K	ANKRD30A_uc001iza.1_Missense_Mutation_p.E591K	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	647						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						GCCTGCCACTGAAATGCAAAA	0.303000														90			49		0	0	0.00361006	0	0
BPIFB4	149954	broad.mit.edu	37	20	31672707	31672707	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr20:31672707C>T	uc010zue.2	+	3	702	c.687C>T	c.(685-687)atC>atT	p.I229I		NM_182519	NP_872325	P59827	LPLC4_HUMAN	Homo sapiens BPI fold containing family B, member 4 (BPIFB4), mRNA.	229			I -> V (in dbSNP:rs2070325).			cytoplasm|extracellular region	lipid binding										GGCTGCGTATCGTGGAGCTGA	0.662000														10			11		0	0	0.00136819	0	0
MDGA1	266727	broad.mit.edu	37	6	37631751	37631751	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:37631751G>A	uc003onu.1	-	1	1378	c.199C>T	c.(199-201)Cga>Tga	p.R67*		NM_153487	NP_705691	Q8NFP4	MDGA1_HUMAN	Homo sapiens MAM domain containing glycosylphosphatidylinositol anchor 1 (MDGA1), mRNA.	67	Ig-like 1.				brain development|neuron migration|spinal cord association neuron differentiation	anchored to plasma membrane		p.R67R(2)		central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	38						ACCTGGGGTCGAGGGTGCCCT	0.602000														22			12		0	0	0.000978159	0	0
CYLC2	1539	broad.mit.edu	37	9	105767772	105767772	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr9:105767772G>A	uc004bbs.2	+	4	929	c.859G>A	c.(859-861)Gat>Aat	p.D287N		NM_001340	NP_001331	Q14093	CYLC2_HUMAN	Homo sapiens cylicin, basic protein of sperm head cytoskeleton 2 (CYLC2), mRNA.	287	31 X 3 AA repeats of K-K-X.				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41		all_hematologic(171;0.125)				CTCAAAGGATgatgtcaagaa	0.398000														29			11		0	0	0.00136819	0	0
STRN	6801	broad.mit.edu	37	2	37085021	37085021	+	Silent	SNP	T	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:37085021T>A	uc002rpn.3	-	13	1824	c.1815A>T	c.(1813-1815)ctA>ctT	p.L605L	STRN_uc010ezx.3_Silent_p.L568L	NM_003162	NP_003153	O43815	STRN_HUMAN	Homo sapiens striatin, calmodulin binding protein (STRN), mRNA.	605					Wnt receptor signaling pathway|dendrite development|locomotory behavior|negative regulation of cell proliferation|tight junction assembly	cytoplasm|dendritic spine|neuronal cell body|postsynaptic density|postsynaptic membrane|tight junction	armadillo repeat domain binding|calmodulin binding|estrogen receptor binding|protein complex binding|protein phosphatase 2A binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33		Ovarian(717;0.0129)|all_hematologic(82;0.21)				TAAATACACTTAGTGCTGGAG	0.363000														30			10		0	0	0.00136819	0	0
CRAT	1384	broad.mit.edu	37	9	131870246	131870247	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr9:131870246_131870247GG>AA	uc004bxh.3	-	1	419_420	c.137_138CC>TT	c.(136-138)tcc>tTT	p.S46F	CRAT_uc004bxk.4_Missense_Mutation_p.S25F|CRAT_uc004bxj.2_Missense_Mutation_p.S47F|PPP2R4_uc004bxl.2_5'Flank	NM_000755	NP_000746	P43155	CACP_HUMAN	Homo sapiens carnitine O-acetyltransferase (CRAT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	46					energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA oxidase|transport	endoplasmic reticulum|mitochondrial inner membrane|peroxisomal matrix	carnitine O-acetyltransferase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)	L-Carnitine(DB00583)	AGTGGTCCAGGGACTGCTGGAG	0.624000														62			9		0	0	6.4e-05	0	0
BAI3	577	broad.mit.edu	37	6	69348689	69348689	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:69348689C>T	uc010kak.3	+	1	398	c.122C>T	c.(121-123)tCg>tTg	p.S41L	BAI3_uc003pev.4_Missense_Mutation_p.S41L	NM_001704	NP_001695	O60242	BAI3_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 3 (BAI3), mRNA.	41	CUB.				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				ATTTATGGATCGTATTCTGTA	0.368000														43			20		0	0	0.00188189	0	0
RBM44	375316	broad.mit.edu	37	2	238738075	238738075	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:238738075C>T	uc002vxi.4	+	12	2951	c.2819C>T	c.(2818-2820)tCt>tTt	p.S940F		NM_001080504	NP_001073973	Q6ZP01	RBM44_HUMAN	Homo sapiens RNA binding motif protein 44 (RBM44), mRNA.	939							RNA binding|nucleotide binding			breast(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(7)|ovary(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)		TTCTCCATTTCTAGATTGCCC	0.413000														107			41		0	0	0.00195071	0	0
GABRR2	2570	broad.mit.edu	37	6	89967511	89967511	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:89967511G>A	uc003pnb.2	-	8	1359	c.1351C>T	c.(1351-1353)Ctg>Ttg	p.L451L	GABRR2_uc011dzx.1_Silent_p.L327L	NM_002043	NP_002034	P28476	GBRR2_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) receptor, rho 2 (GABRR2), mRNA.	451					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(10)|prostate(2)|urinary_tract(1)	21		all_cancers(76;1.67e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.77e-07)|all_epithelial(107;2.51e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0158)		TGGCCCTTCAGAAGCCCCTTC	0.473000														26			16		0	0	0.000566183	0	0
CYFIP2	26999	broad.mit.edu	37	5	156734867	156734867	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:156734867C>T	uc021ygm.1	+	8	1029	c.891C>T	c.(889-891)ttC>ttT	p.F297F	CYFIP2_uc011ddn.2_Silent_p.F272F|CYFIP2_uc011ddo.2_Silent_p.F102F|CYFIP2_uc021ygn.1_Silent_p.F297F|CYFIP2_uc021ygo.1_Silent_p.F297F|CYFIP2_uc003lwt.3_Silent_p.F176F|CYFIP2_uc011ddp.2_Silent_p.F32F	NM_001037333	NP_001032410	Q96F07	CYFP2_HUMAN	Homo sapiens cytoplasmic FMR1 interacting protein 2 (CYFIP2), transcript variant 1, mRNA.	298					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding			breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TTGATAAATTCTTTAAGGTCA	0.458000														184			67		0	0	0.00361006	0	0
PTPN11	5781	broad.mit.edu	37	12	112891006	112891006	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:112891006C>T	uc001ttx.3	+	3	720	c.340C>T	c.(340-342)Cat>Tat	p.H114Y	PTPN11_uc001ttw.1_Missense_Mutation_p.H114Y	NM_002834	NP_002825	Q06124	PTN11_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 11 (PTPN11), mRNA.	114	SH2 2.				T cell costimulation|axon guidance|cell junction assembly|ephrin receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|platelet activation|regulation of cell adhesion mediated by integrin|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytosol	non-membrane spanning protein tyrosine phosphatase activity|protein binding			NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3)	451						TAGGTGGTTTCATGGACATCT	0.358000			Mis		"""JMML, AML, MDS"""		Noonan Syndrome		Noonan syndrome					78			25		0	0	0.000878237	0	0
DNAJB2	3300	broad.mit.edu	37	2	220147566	220147566	+	Silent	SNP	G	T	T	rs149109769		TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:220147566G>T	uc002vkx.1	+	5	597	c.360G>T	c.(358-360)ctG>ctT	p.L120L	DNAJB2_uc002vkw.1_Silent_p.L120L|DNAJB2_uc010zlb.1_5'UTR	NM_006736	NP_006727	P25686	DNJB2_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 2 (DNAJB2), transcript variant 2, mRNA.	120					ER-associated protein catabolic process|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of inclusion body assembly|negative regulation of protein deubiquitination|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein folding|response to unfolded protein	inclusion body	Hsp70 protein binding|heat shock protein binding|polyubiquitin binding|proteasome binding|protein binding|unfolded protein binding			endometrium(4)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14		Renal(207;0.0474)		Epithelial(149;1.97e-06)|all cancers(144;0.00028)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CAGATGACCTGGGCCCCTTCT	0.512000														101			6		0.00307968	0.00956451	0.00307968	1	0
OR2F1	26211	broad.mit.edu	37	7	143657981	143657982	+	Nonsense_Mutation	DNP	GA	AG	AG			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:143657981_143657982GA>AG	uc003wds.1	+	0	962_963	c.918_919GA>AG	c.(916-921)tggaaa>tgAGaa	p.306_307WK>*E		NM_012369	NP_036501	Q13607	OR2F1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily F, member 1 (OR2F1), mRNA.	306					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.W306C(2)		breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4)	34	Melanoma(164;0.0903)					AACTATTATGGAAATTCTCTGG	0.431000														46			14		0	0	6.4e-05	0	0
ZNF177	7730	broad.mit.edu	37	19	9492327	9492327	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:9492327G>A	uc021uon.1	+	5	1481	c.1320G>A	c.(1318-1320)agG>agA	p.R440R	ZNF177_uc002mli.3_Silent_p.R280R|ZNF177_uc002mlj.3_3'UTR|ZNF177_uc002mlk.3_Silent_p.R280R	NM_001172651	NP_001166122	Q13360	ZN177_HUMAN	Homo sapiens zinc finger protein 177 (ZNF177), transcript variant 1, mRNA.	280					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|stomach(2)	13						CTTGCCTGAGGGTACACGTGA	0.433000														87			32		0	0	0.001512	0	0
OR52E2	119678	broad.mit.edu	37	11	5079889	5079889	+	Silent	SNP	C	T	T	rs148031312		TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:5079889C>T	uc010qyw.2	-	0	969	c.969G>A	c.(967-969)acG>acA	p.T323T		NM_001005164	NP_001005164	Q8NGJ4	O52E2_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily E, member 2 (OR52E2), mRNA.	323					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|lung(13)|ovary(2)|skin(3)	20		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191)		TTCAGAACCTCGTATGTATTA	0.318000														49			21		0	0	0.00278032	0	0
ARFGEF1	10565	broad.mit.edu	37	8	68179591	68179591	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr8:68179591C>T	uc003xxo.2	-	10	2049	c.1659G>A	c.(1657-1659)acG>acA	p.T553T	ARFGEF1_uc003xxl.1_Silent_p.T7T	NM_006421	NP_006412	Q9Y6D6	BIG1_HUMAN	Homo sapiens ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited) (ARFGEF1), mRNA.	553					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			CACAAATCCTCGTCAGTGTCT	0.303000														82			31		0	0	0.00111076	0	0
DNAH11	8701	broad.mit.edu	37	7	21765493	21765493	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:21765493C>T	uc003svc.3	+	45	7383	c.7352C>T	c.(7351-7353)cCg>cTg	p.P2451L		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	2451					microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GTGAAATTTCCGTCGCAGGGA	0.403000									Kartagener syndrome					15			5		0	0	0.00116845	0	0
PTPRR	5801	broad.mit.edu	37	12	71147971	71147971	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:71147971C>T	uc001swi.2	-	5	1152	c.738_splice	c.e5+1	p.M246_splice	PTPRR_uc001swh.2_Splice_Site_p.M1_splice|PTPRR_uc009zrs.3_Splice_Site_p.M40_splice|PTPRR_uc010stq.2_Splice_Site_p.M134_splice|PTPRR_uc010str.1_Splice_Site_p.M95_splice	NM_002849	NP_570897	Q15256	PTPRR_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, R (PTPRR), transcript variant 1, mRNA.	246					in utero embryonic development	Golgi apparatus|cell surface|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		GCAAACTTACCATCAAACACG	0.373000														28			8		0	0	0.000442599	0	0
KCNA4	3739	broad.mit.edu	37	11	30032434	30032434	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:30032434G>A	uc021qfi.1	-	0	1792	c.1792C>T	c.(1792-1794)Cgg>Tgg	p.R598W	KCNA4_uc001msk.3_Missense_Mutation_p.R598W	NM_002233	NP_002224	P22459	KCNA4_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 4 (KCNA4), mRNA.	598						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity	p.R598W(2)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						GTAGAGCTCCGAAATTTCTTG	0.458000														23			9		0	0	0.000274275	0	0
TDRKH	11022	broad.mit.edu	37	1	151748675	151748675	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:151748675G>A	uc009wnb.1	-	7	1296	c.1114C>T	c.(1114-1116)Cga>Tga	p.R372*	TDRKH_uc001eyy.2_Nonsense_Mutation_p.R148*|TDRKH_uc001ezb.4_Nonsense_Mutation_p.R368*|TDRKH_uc001ezc.4_Nonsense_Mutation_p.R327*|TDRKH_uc001eza.4_Nonsense_Mutation_p.R372*|TDRKH_uc001ezd.4_Nonsense_Mutation_p.R372*|TDRKH_uc010pdn.1_Nonsense_Mutation_p.R148*	NM_006862	NP_006853	Q9Y2W6	TDRKH_HUMAN	Homo sapiens tudor and KH domain containing (TDRKH), transcript variant 3, mRNA.	372	Tudor.						RNA binding			breast(5)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			ACCCGGGCTCGATACCAGGAA	0.507000														59			40		0	0	0.00195071	0	0
STARD3NL	83930	broad.mit.edu	37	7	38259190	38259190	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:38259190C>T	uc003tfr.3	+	6	851	c.578C>T	c.(577-579)tCa>tTa	p.S193L		NM_032016	NP_114405	O95772	MENTO_HUMAN	Homo sapiens STARD3 N-terminal like (STARD3NL), mRNA.	193	MENTAL.					integral to membrane|late endosome membrane				endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10						CAGGATGCTTCAGAGAGGGCA	0.408000														96			52		0	0	0.00361006	0	0
HYDIN	54768	broad.mit.edu	37	16	70891710	70891710	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr16:70891710G>A	uc002ezr.3	-	71	12341	c.12190C>T	c.(12190-12192)Ccc>Tcc	p.P4064S	HYDIN_uc010cfy.3_Non-coding_Transcript	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	4065										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TTGTGCTCGGGAATTAGGAAG	0.468000														32			6		0	0	0.000274275	0	0
KIAA0947	23379	broad.mit.edu	37	5	5464486	5464486	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:5464486C>T	uc003jdm.4	+	12	5261	c.5039C>T	c.(5038-5040)gCc>gTc	p.A1680V		NM_015325	NP_056140	Q9Y2F5	K0947_HUMAN	Homo sapiens KIAA0947 (KIAA0947), mRNA.	1680	Pro-rich.									breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						GTGCCTCCTGCCATGTCTCCA	0.577000														113			62		0	0	0.00361006	0	0
ANK2	287	broad.mit.edu	37	4	114277268	114277268	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr4:114277268C>T	uc003ibe.4	+	37	7594	c.7494C>T	c.(7492-7494)ctC>ctT	p.L2498L	ANK2_uc003ibd.4_Intron|ANK2_uc003ibf.4_Intron|ANK2_uc011cgc.2_Intron|ANK2_uc003ibg.4_Intron|ANK2_uc003ibh.4_Intron|ANK2_uc011cgb.1_Silent_p.L2513L	NM_001148	NP_001139	Q01484	ANK2_HUMAN	Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA.	2465					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		AAACAGAACTCTTGACGGAAG	0.537000														47			30		0	0	0.001512	0	0
SIGLEC1	6614	broad.mit.edu	37	20	3677938	3677938	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr20:3677938G>A	uc002wja.3	-	8	2174	c.2174C>T	c.(2173-2175)gCc>gTc	p.A725V	SIGLEC1_uc002wiz.4_Missense_Mutation_p.A725V	NM_023068	NP_075556	Q9BZZ2	SN_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 1, sialoadhesin (SIGLEC1), mRNA.	725	Ig-like C2-type 7.				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						AGTCAAGTTGGCTTCTGTGCC	0.632000														31			10		0	0	0.000978159	0	0
ADAM30	11085	broad.mit.edu	37	1	120437263	120437264	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:120437263_120437264GG>TT	uc001eij.3	-	0	1884_1885	c.1696_1697CC>AA	c.(1696-1698)cct>AAt	p.P566N		NM_021794	NP_068566	Q9UKF2	ADA30_HUMAN	Homo sapiens ADAM metallopeptidase domain 30 (ADAM30), mRNA.	566	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)		TGGCAAATCAGGGATGGTTTCA	0.386000														840			21		0	0	6.4e-05	0	0
SAMD4A	23034	broad.mit.edu	37	14	55168868	55168868	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr14:55168868C>T	uc001xbb.3	+	1	590	c.282C>T	c.(280-282)ctC>ctT	p.L94L	SAMD4A_uc001xba.3_Silent_p.L95L|SAMD4A_uc001xbc.3_Silent_p.L95L|SAMD4A_uc001xbf.2_Non-coding_Transcript|SAMD4A_uc001xbe.3_5'UTR	NM_015589	NP_056404	Q9UPU9	SMAG1_HUMAN	Homo sapiens sterile alpha motif domain containing 4A (SAMD4A), transcript variant 1, mRNA.	95					positive regulation of translation	cell junction|cytoplasm|dendrite|synapse|synaptosome	translation repressor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)	29						CAGGAAACCTCGACGCGAAAG	0.458000														27			14		0	0	0.00185496	0	0
AXDND1	126859	broad.mit.edu	37	1	179398701	179398701	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:179398701G>A	uc001gmo.3	+	12	1666	c.1279G>A	c.(1279-1281)Gaa>Aaa	p.E427K	AXDND1_uc001gmn.2_Missense_Mutation_p.E215K|AXDND1_uc010pnl.2_Non-coding_Transcript|AXDND1_uc009wxg.3_Non-coding_Transcript|AXDND1_uc021pfj.1_Missense_Mutation_p.E385K	NM_144696	NP_653297	Q5T1B0	AXDN1_HUMAN	Homo sapiens axonemal dynein light chain domain containing 1 (AXDND1), mRNA.	427										NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						TTACCTTAATGAAAAAGGCTG	0.318000														46			20		0	0	0.00278032	0	0
CTAG2	30848	broad.mit.edu	37	X	153880690	153880690	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chrX:153880690C>T	uc004fmi.2	-	1	549	c.485G>A	c.(484-486)gGg>gAg	p.G162E	CTAG2_uc004fmh.2_Intron	NM_020994	NP_066274	O75638	CTAG2_HUMAN	Homo sapiens cancer/testis antigen 2 (CTAG2), transcript variant 2, mRNA.	162						centrosome				central_nervous_system(1)|endometrium(1)|lung(6)|ovary(1)|pancreas(1)	10	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					AGCTTTCTGCCCCTCCGGGGA	0.632000														15			35		0	0	0.00128727	0	0
HIVEP2	3097	broad.mit.edu	37	6	143074913	143074913	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:143074913G>A	uc003qjd.3	-	9	7415	c.6672C>T	c.(6670-6672)gcC>gcT	p.A2224A		NM_006734	NP_006725	P31629	ZEP2_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 2 (HIVEP2), mRNA.	2224					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		TGGGGATAGGGGCTCGCACTT	0.542000														63			32		0	0	0.00283554	0	0
MEPE	56955	broad.mit.edu	37	4	88767097	88767097	+	Silent	SNP	T	C	C			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr4:88767097T>C	uc021xpx.1	+	3	1182	c.1170T>C	c.(1168-1170)gaT>gaC	p.D390D	MEPE_uc021xpu.1_Silent_p.D359D|MEPE_uc021xpv.1_Silent_p.D246D|MEPE_uc021xpw.1_Silent_p.D246D|MEPE_uc010ikn.3_Silent_p.D246D|MEPE_uc003hqy.3_Silent_p.D359D|MEPE_uc021xpy.1_Silent_p.D246D	NM_001184697	NP_001171626	Q9NQ76	MEPE_HUMAN	Homo sapiens matrix extracellular phosphoglycoprotein (MEPE), transcript variant 5, mRNA.	359					skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000432)		ACAGAGTGGATGCTGGCAGCC	0.473000														31			12		0	0	0.00185496	0	0
STAB2	55576	broad.mit.edu	37	12	104084258	104084258	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:104084258C>T	uc001tjw.3	+	29	3425	c.3239C>T	c.(3238-3240)tCt>tTt	p.S1080F		NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	Homo sapiens stabilin 2 (STAB2), mRNA.	1080	FAS1 3.				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						CTGTCTTCTTCTGACATGTTG	0.418000														52			34		0	0	0.00195071	0	0
CXorf22	170063	broad.mit.edu	37	X	35993901	35993901	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chrX:35993901G>A	uc004ddj.3	+	14	2650	c.2584G>A	c.(2584-2586)Ggc>Agc	p.G862S	CXorf22_uc010ngv.3_Non-coding_Transcript	NM_152632	NP_689845	Q6ZTR5	CX022_HUMAN	Homo sapiens chromosome X open reading frame 22 (CXorf22), mRNA.	862										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						GAGACCACGAGGCTTCTTCAT	0.443000														39			51		0	0	0.00361006	0	0
SLC5A9	200010	broad.mit.edu	37	1	48697256	48697256	+	Missense_Mutation	SNP	C	G	G	rs147266128		TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:48697256C>G	uc001crn.2	+	6	777	c.725C>G	c.(724-726)aCg>aGg	p.T242R	SLC5A9_uc010oms.1_Non-coding_Transcript|SLC5A9_uc001cro.2_Missense_Mutation_p.T217R|SLC5A9_uc010omt.1_Missense_Mutation_p.T231R|SLC5A9_uc001crp.2_5'UTR|SLC5A9_uc010omu.1_5'UTR	NM_001135181	NP_001128653	Q2M3M2	SC5A9_HUMAN	Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 9 (SLC5A9), transcript variant 1, mRNA.	217						integral to membrane|plasma membrane	low-affinity glucose:sodium symporter activity	p.G241E(1)		breast(1)|endometrium(3)|large_intestine(4)|liver(2)|lung(11)|ovary(3)|prostate(1)|urinary_tract(1)	26						GCTCTGCAGACGGTGATCATG	0.542000														13			14		0	0	0.00074312	0	0
XIRP2	129446	broad.mit.edu	37	2	168107053	168107053	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:168107053G>A	uc002udx.3	+	8	9240	c.9151G>A	c.(9151-9153)Gaa>Aaa	p.E3051K	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.E2876K|XIRP2_uc010fpq.3_Missense_Mutation_p.E2829K|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	2876					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TAGTCTTGATGAAACATCATC	0.353000														79			42		0	0	0.00361006	0	0
OTUD7A	161725	broad.mit.edu	37	15	31793992	31793992	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr15:31793992G>A	uc001zfq.3	-	7	1144	c.1051C>T	c.(1051-1053)Ccc>Tcc	p.P351S	OTUD7A_uc001zfr.3_Missense_Mutation_p.P358S	NM_130901	NP_570971	Q8TE49	OTU7A_HUMAN	Homo sapiens OTU domain containing 7A (OTUD7A), mRNA.	351	Catalytic (By similarity).|OTU.|TRAF-binding (By similarity).					cytoplasm|nucleus	DNA binding|cysteine-type peptidase activity|zinc ion binding			endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	30		all_lung(180;1.6e-09)		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)		CATCTGTTGGGAGGGACCTCC	0.577000														18			21		0	0	0.00188189	0	0
ADAD1	132612	broad.mit.edu	37	4	123301320	123301320	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr4:123301320G>A	uc003ieo.3	+	2	328	c.96G>A	c.(94-96)acG>acA	p.T32T	ADAD1_uc003iep.3_Silent_p.T32T|ADAD1_uc003ieq.3_Silent_p.T14T	NM_139243	NP_001152767	Q96M93	ADAD1_HUMAN	Homo sapiens adenosine deaminase domain containing 1 (testis-specific) (ADAD1), transcript variant 1, mRNA.	32					RNA processing|multicellular organismal development	nucleus	adenosine deaminase activity|double-stranded RNA binding	p.K31K(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						CGACAAAGACGATAACTACAC	0.468000														43			21		0	0	0.00229938	0	0
SPRR2G	6706	broad.mit.edu	37	1	153122505	153122505	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:153122505G>A	uc021ozu.1	-	0	82	c.82C>T	c.(82-84)Cca>Tca	p.P28S	SPRR2G_uc009wod.2_Missense_Mutation_p.P28S	NM_001014291	NP_001014313	Q9BYE4	SPR2G_HUMAN	Homo sapiens small proline-rich protein 2G (SPRR2G), mRNA.	28	3 X 9 AA approximate tandem repeats.				keratinization	cornified envelope|cytoplasm		p.P28S(2)		endometrium(1)|lung(1)|skin(1)	3	all_lung(78;1.78e-30)|Lung NSC(65;7.29e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			TTCGGGGGTGGACATGGCTCT	0.597000														50			26		0	0	0.00178596	0	0
SDPR	8436	broad.mit.edu	37	2	192701434	192701434	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:192701434C>T	uc002utb.3	-	1	848	c.493G>A	c.(493-495)Gag>Aag	p.E165K		NM_004657	NP_004648	O95810	SDPR_HUMAN	Homo sapiens serum deprivation response (SDPR), mRNA.	165						caveola|cytosol	phosphatidylserine binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23			OV - Ovarian serous cystadenocarcinoma(117;0.0647)		Phosphatidylserine(DB00144)	GCAGGGATCTCATTTTCCTCC	0.468000														12			6		0	0	0.00198382	0	0
OR4A15	81328	broad.mit.edu	37	11	55135991	55135991	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:55135991C>T	uc010rif.2	+	0	632	c.632C>T	c.(631-633)cCc>cTc	p.P211L		NM_001005275	NP_001005275	Q8NGL6	O4A15_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 15 (OR4A15), mRNA.	211					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						GATTTGTATCCCTTATTGAAA	0.413000														29			30		0	0	0.00327116	0	0
A2M	2	broad.mit.edu	37	12	9262611	9262611	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:9262611G>A	uc001qvk.1	-	5	638	c.525C>T	c.(523-525)atC>atT	p.I175I	A2M_uc009zgk.1_Silent_p.I25I	NM_000014	NP_000005	P01023	A2MG_HUMAN	Homo sapiens alpha-2-macroglobulin (A2M), mRNA.	175					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	GTPase activator activity|enzyme binding|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding	p.I175I(2)|p.R174H(1)		breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)	GCCATTGTGCGATGCGATTTC	0.433000														97			49		0	0	0.00361006	0	0
HTR2A	3356	broad.mit.edu	37	13	47409042	47409042	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr13:47409042C>T	uc010acr.3	-	3	2035	c.1346G>A	c.(1345-1347)gGa>gAa	p.G449E	HTR2A_uc001vbr.3_Missense_Mutation_p.G365E	NM_000621	NP_000612	P28223	5HT2A_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 2A (HTR2A), transcript variant 1, mRNA.	449					ERK1 and ERK2 cascade|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	integral to plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|serotonin binding|serotonin receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333)		GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224)	Aripiprazole(DB01238)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Dihydroergotamine(DB00320)|Donepezil(DB00843)|Epinastine(DB00751)|Ergotamine(DB00696)|Fluvoxamine(DB00176)|Mesoridazine(DB00933)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	ATGCTGCTTTCCTAGAGCAAC	0.448000														92			41		0	0	0.0025221	0	0
TCRVA15	0	broad.mit.edu	37	14	22217917	22217917	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr14:22217917G>A	uc010aiq.1	+	1	347	c.268G>A	c.(268-270)Gat>Aat	p.D90N	TRA_uc021rpa.1_Intron|TCRVA15_uc010aip.1_Missense_Mutation_p.D86N					Homo sapiens mRNA for T cell receptor alpha variable 5, partial cds, clone: SEB 96.																		GAATAAAAAGGATAAACATCT	0.433000														28			17		0	0	0.00074312	0	0
TRANK1	9881	broad.mit.edu	37	3	36874203	36874203	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:36874203C>G	uc003cgj.3	-	20	6987	c.6739G>C	c.(6739-6741)Gaa>Caa	p.E2247Q		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	2247					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						TTGAGGATTTCTTTGCATGCC	0.433000														28			35		0	0	0.00222228	0	0
SLC22A9	114571	broad.mit.edu	37	11	63141131	63141131	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:63141131C>T	uc001nww.3	+	2	790	c.522C>T	c.(520-522)ttC>ttT	p.F174F	SLC22A9_uc001nwx.3_Intron	NM_080866	NP_543142	Q8IVM8	S22A9_HUMAN	Homo sapiens solute carrier family 22 (organic anion transporter), member 9 (SLC22A9), mRNA.	174					transmembrane transport	integral to membrane				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						GGAGAAGGTTCGTGCTCAGAT	0.458000														25			21		0	0	0.00229938	0	0
CCDC63	160762	broad.mit.edu	37	12	111321930	111321930	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:111321930G>A	uc001trv.1	+	7	1145	c.950G>A	c.(949-951)gGg>gAg	p.G317E	CCDC63_uc010sye.1_Missense_Mutation_p.G277E|CCDC63_uc001trw.1_Missense_Mutation_p.G232E	NM_152591	NP_689804	Q8NA47	CCD63_HUMAN	Homo sapiens coiled-coil domain containing 63 (CCDC63), mRNA.	317										NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1)	39						GCTGAGAGTGGGAACCTAAAC	0.502000														75			39		0	0	0.00128727	0	0
CAMTA1	23261	broad.mit.edu	37	1	7724243	7724243	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:7724243G>A	uc001aoi.3	+	8	1843	c.1636G>A	c.(1636-1638)Gaa>Aaa	p.E546K		NM_015215	NP_056030	Q9Y6Y1	CMTA1_HUMAN	Homo sapiens calmodulin binding transcription activator 1 (CAMTA1), transcript variant 1, mRNA.	546					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		GATGGCCAAAGAAGCGTACTC	0.682000			T	WWTR1	epitheliod hemangioendothelioma									12			27		0	0	0.00178596	0	0
SCEL	8796	broad.mit.edu	37	13	78214846	78214846	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr13:78214846G>A	uc001vki.3	+	30	2044	c.1874G>A	c.(1873-1875)cGa>cAa	p.R625Q	SCEL_uc010thx.2_Missense_Mutation_p.R583Q|SCEL_uc001vkj.3_Missense_Mutation_p.R605Q	NM_144777	NP_659001	O95171	SCEL_HUMAN	Homo sapiens sciellin (SCEL), transcript variant 1, mRNA.	625	LIM zinc-binding.				embryo development|keratinocyte differentiation	cornified envelope|cytoplasm|membrane	protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(18)|ovary(5)|prostate(1)|stomach(1)|urinary_tract(1)	40		Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0233)		ACTTACTGCCGAAAACCCTTG	0.313000														41			24		0	0	0.00127121	0	0
FAM75A6	389730	broad.mit.edu	37	9	43625386	43625386	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr9:43625386G>A	uc011lrb.2	-	3	3330	c.3301C>T	c.(3301-3303)Ccc>Tcc	p.P1101S		NM_001145196	NP_001138668	Q5VVP1	F75A6_HUMAN	Homo sapiens family with sequence similarity 75, member A6 (FAM75A6), mRNA.	1101						integral to membrane				breast(2)|endometrium(3)|kidney(4)|lung(36)|prostate(4)|skin(2)|soft_tissue(1)|stomach(1)|urinary_tract(1)	54						TGAATAGGGGGAAACATTGGC	0.488000														141			62		0	0	0.00361006	0	0
DIP2B	57609	broad.mit.edu	37	12	51135318	51135318	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:51135318G>A	uc001rwv.3	+	36	4630	c.4474G>A	c.(4474-4476)Gaa>Aaa	p.E1492K	DIP2B_uc009zlt.3_Missense_Mutation_p.E922K	NM_173602	NP_775873	Q9P265	DIP2B_HUMAN	Homo sapiens DIP2 disco-interacting protein 2 homolog B (Drosophila) (DIP2B), mRNA.	1492						nucleus	catalytic activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						AAGCATTGCTGAATGGTAACT	0.468000														42			19		0	0	0.00188189	0	0
ADCY8	114	broad.mit.edu	37	8	131880124	131880124	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr8:131880124G>A	uc003ytd.4	-	8	2434	c.2178C>T	c.(2176-2178)atC>atT	p.I726I	ADCY8_uc010mds.3_Intron	NM_001115	NP_001106	P40145	ADCY8_HUMAN	Homo sapiens adenylate cyclase 8 (brain) (ADCY8), mRNA.	726					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			GTATTGCCGTGATAAATAGAA	0.348000										HNSCC(32;0.087)				40			19		0	0	0.00188189	0	0
MUC16	94025	broad.mit.edu	37	19	9063888	9063888	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:9063888G>A	uc002mkp.3	-	2	23762	c.23558C>T	c.(23557-23559)tCt>tTt	p.S7853F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	7855	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGGCACTTTAGAGAGGACAGT	0.547000														29			11		0	0	0.000673444	0	0
PCDHB12	56124	broad.mit.edu	37	5	140588761	140588761	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:140588761G>A	uc003liz.3	+	0	471	c.282G>A	c.(280-282)gaG>gaA	p.E94E	PCDHB12_uc011dak.2_Intron	NM_018932	NP_061755	Q9Y5F1	PCDBC_HUMAN	Homo sapiens protocadherin beta 12 (PCDHB12), mRNA.	94	Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.E94D(2)		NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACAGGGAGGAGCTCTGTGGCT	0.478000														49			22		0	0	0.00152264	0	0
SLC3A1	6519	broad.mit.edu	37	2	44547676	44547676	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:44547676G>A	uc002ruc.4	+	9	2034	c.1956G>A	c.(1954-1956)acG>acA	p.T652T	PREPL_uc002rug.3_3'UTR|PREPL_uc002ruh.3_3'UTR|PREPL_uc002ruf.3_3'UTR|PREPL_uc010fax.3_3'UTR|PREPL_uc002rui.4_3'UTR|PREPL_uc002ruj.2_3'UTR|PREPL_uc002ruk.2_3'UTR|SLC3A1_uc002rud.4_Silent_p.T374T|SLC3A1_uc002rue.4_Silent_p.T272T	NM_000341	NP_000332	Q07837	SLC31_HUMAN	Homo sapiens solute carrier family 3 (cystine, dibasic and neutral amino acid transporters, activator of cystine, dibasic and neutral amino acid transport), member 1 (SLC3A1), mRNA.	652			T -> R (in CSNU1).		carbohydrate metabolic process|cellular amino acid metabolic process|ion transport	integral to plasma membrane|membrane fraction	L-cystine transmembrane transporter activity|basic amino acid transmembrane transporter activity|catalytic activity|cation binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(3)	26		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)			L-Cystine(DB00138)	AACACAACACGAAGAATCTCC	0.418000														43			21		0	0	0.00278032	0	0
CACNA1B	774	broad.mit.edu	37	9	140953056	140953056	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr9:140953056C>T	uc004cog.3	+	28	4489	c.4344C>T	c.(4342-4344)ccC>ccT	p.P1448P	CACNA1B_uc022bqn.1_Silent_p.P1448P|CACNA1B_uc011mfd.2_Silent_p.P1049P|CACNA1B_uc004coi.3_Silent_p.P662P	NM_000718	NP_000709	Q00975	CAC1B_HUMAN	Homo sapiens calcium channel, voltage-dependent, N type, alpha 1B subunit (CACNA1B), transcript variant 1, mRNA.	1448					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	GCGCCAAACCCCTGACACGGT	0.527000														17			14		0	0	0.00074312	0	0
OR4S1	256148	broad.mit.edu	37	11	48327915	48327915	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:48327915C>T	uc010rhu.2	+	0	141	c.141C>T	c.(139-141)atC>atT	p.I47I		NM_001004725	NP_001004725	Q8NGB4	OR4S1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily S, member 1 (OR4S1), mRNA.	47					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|skin(3)	21						TCATCACCATCAATGCTAGAA	0.448000														70			38		0	0	0.00111076	0	0
TRIM15	89870	broad.mit.edu	37	6	30134956	30134956	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:30134956C>T	uc010jrx.3	+	1	864	c.385C>T	c.(385-387)Cgt>Tgt	p.R129C		NM_033229	NP_150232	Q9C019	TRI15_HUMAN	Homo sapiens tripartite motif containing 15 (TRIM15), mRNA.	129					mesodermal cell fate determination	intracellular	zinc ion binding			large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	14						CCCACAGGATCGTCTCAGGAG	0.468000														81			29		0	0	0.00327116	0	0
DPYD	1806	broad.mit.edu	37	1	98205983	98205983	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:98205983C>T	uc001drv.3	-	3	423	c.286G>A	c.(286-288)Gat>Aat	p.D96N	DPYD_uc010oub.1_Non-coding_Transcript|DPYD_uc001drw.3_Missense_Mutation_p.D96N	NM_000110	NP_000101	Q12882	DPYD_HUMAN	Homo sapiens dihydropyrimidine dehydrogenase (DPYD), transcript variant 1, mRNA.	96	4Fe-4S ferredoxin-type 1.				'de novo' pyrimidine base biosynthetic process|UMP biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|NADP binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	GATTTAATATCAAGATTAGTT	0.323000														119			64		0	0	0.00361006	0	0
TMEM132B	114795	broad.mit.edu	37	12	125834329	125834329	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:125834329C>T	uc001uhe.1	+	1	392	c.384C>T	c.(382-384)tcC>tcT	p.S128S	TMEM132B_uc021rgl.1_Silent_p.S18S	NM_052907	NP_443139	Q14DG7	T132B_HUMAN	Homo sapiens transmembrane protein 132B (TMEM132B), mRNA.	128						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		TTGACAGCTCCATCTACTCCA	0.468000														91			40		0	0	0.00222228	0	0
RPS6KA6	27330	broad.mit.edu	37	X	83374994	83374994	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chrX:83374994C>T	uc004eej.2	-	8	724	c.688G>A	c.(688-690)Gct>Act	p.A230T	RPS6KA6_uc011mqt.2_Missense_Mutation_p.A230T|RPS6KA6_uc011mqu.2_Missense_Mutation_p.A127T|RPS6KA6_uc010nmo.1_Non-coding_Transcript	NM_014496	NP_055311	Q9UK32	KS6A6_HUMAN	Homo sapiens ribosomal protein S6 kinase, 90kDa, polypeptide 6 (RPS6KA6), mRNA.	230	Protein kinase 1.				axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						AATGAGTAAGCCTTCTTTTCT	0.373000														15			17		0	0	0.000958276	0	0
TRHDE	29953	broad.mit.edu	37	12	72771779	72771779	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:72771779G>A	uc001sxa.3	+	2	1088	c.1058G>A	c.(1057-1059)cGa>cAa	p.R353Q		NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN	Homo sapiens thyrotropin-releasing hormone degrading enzyme (TRHDE), mRNA.	353					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	p.R353Q(2)|p.R353*(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						aattaGGTACGATTATATGCA	0.313000														29			15		0	0	0.00244969	0	0
ANKRD33	341405	broad.mit.edu	37	12	52284533	52284533	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:52284533G>A	uc001rzd.3	+	4	981	c.803G>A	c.(802-804)gGg>gAg	p.G268E	ANKRD33_uc001rzh.4_3'UTR|ANKRD33_uc001rzf.4_Missense_Mutation_p.G143E|ANKRD33_uc001rze.3_Missense_Mutation_p.G164E|ANKRD33_uc001rzg.4_Missense_Mutation_p.G70E|ANKRD33_uc001rzi.4_Missense_Mutation_p.G143E	NM_182608	NP_872414	Q7Z3H0	ANR33_HUMAN	Homo sapiens ankyrin repeat domain 33 (ANKRD33), transcript variant 2, mRNA.	143										endometrium(2)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.0969)		GCCTTGTCCGGGCTCGTggcc	0.667000														17			9		0	0	0.000442599	0	0
JAKMIP1	152789	broad.mit.edu	37	4	6055779	6055779	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr4:6055779C>T	uc010idb.1	-	12	2290	c.1804G>A	c.(1804-1806)Gaa>Aaa	p.E602K	JAKMIP1_uc010idc.1_Missense_Mutation_p.E417K|JAKMIP1_uc010idd.1_Intron|JAKMIP1_uc003giu.4_Missense_Mutation_p.E602K|JAKMIP1_uc011bwc.2_Missense_Mutation_p.E437K|JAKMIP1_uc003giv.4_Missense_Mutation_p.E602K|JAKMIP1_uc010ide.3_3'UTR	NM_001099433	NP_001092903	Q96N16	JKIP1_HUMAN	Homo sapiens janus kinase and microtubule interacting protein 1 (JAKMIP1), transcript variant 1, mRNA.	602	Mediates interaction with TYK2 and GABBR1.				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding	p.L601L(1)		NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TCTCTTACTTCGAGTTCTAGC	0.403000														113			50		0	0	0.00361006	0	0
ZNF229	7772	broad.mit.edu	37	19	44934018	44934018	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:44934018C>T	uc002oze.1	-	5	1372	c.938G>A	c.(937-939)aGa>aAa	p.R313K	ZNF229_uc010ejk.1_5'UTR|ZNF229_uc010ejl.1_Missense_Mutation_p.R307K	NM_014518	NP_055333	Q9UJW7	ZN229_HUMAN	Homo sapiens zinc finger protein 229 (ZNF229), mRNA.	313					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				TGTGGGAACTCTTTGATGTCT	0.507000														21			5		0	0	0.00198382	0	0
FAT4	79633	broad.mit.edu	37	4	126412600	126412600	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr4:126412600G>A	uc003ifj.4	+	16	14623	c.14623G>A	c.(14623-14625)Gaa>Aaa	p.E4875K	FAT4_uc011cgp.2_Missense_Mutation_p.E3116K|FAT4_uc003ifi.1_Missense_Mutation_p.E2352K	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	4875					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TCAAGTCAATGAATCTGATGC	0.483000														38			20		0	0	0.00152264	0	0
SMARCA1	6594	broad.mit.edu	37	X	128645872	128645872	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chrX:128645872G>T	uc011muk.1	-	5	832	c.719C>A	c.(718-720)cCa>cAa	p.P240Q	SMARCA1_uc004eun.4_Missense_Mutation_p.P240Q|SMARCA1_uc004eup.4_Missense_Mutation_p.P240Q|SMARCA1_uc011mul.1_Missense_Mutation_p.P240Q	NM_003069	NP_003060	P28370	SMCA1_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1 (SMARCA1), transcript variant 1, mRNA.	240	Helicase ATP-binding.				ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex	ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						AGTAGACTTTGGAACTAAAAC	0.413000														182			7		0.00198382	0.00617672	0.00198382	1	0
LINGO1	84894	broad.mit.edu	37	15	77906604	77906604	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr15:77906604G>A	uc002bct.1	-	1	1697	c.1645C>T	c.(1645-1647)Cct>Tct	p.P549S	LINGO1_uc002bcu.1_Missense_Mutation_p.P543S	NM_032808	NP_116197	Q96FE5	LIGO1_HUMAN	Homo sapiens leucine rich repeat and Ig domain containing 1 (LINGO1), mRNA.	549					negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31						AAGGGGAAAGGCACAGTGGCG	0.607000														24			50		0	0	0.00361006	0	0
COPS4	51138	broad.mit.edu	37	4	83970440	83970440	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr4:83970440C>T	uc003hoa.3	+	2	415	c.276C>T	c.(274-276)atC>atT	p.I92I	COPS4_uc010ijx.3_Silent_p.I92I	NM_016129	NP_057213	Q9BT78	CSN4_HUMAN	Homo sapiens COP9 constitutive photomorphogenic homolog subunit 4 (Arabidopsis) (COPS4), mRNA.	92					cullin deneddylation	cytoplasm|signalosome	protein binding			endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|urinary_tract(2)	13		Hepatocellular(203;0.114)				TGGAAAAGATCCAGCCTAGAG	0.393000														44			21		0	0	0.00229938	0	0
GLI2	2736	broad.mit.edu	37	2	121732662	121732662	+	Missense_Mutation	SNP	G	A	A	rs13427953		TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:121732662G>A	uc010flp.3	+	7	1375	c.1345G>A	c.(1345-1347)Gac>Aac	p.D449N	GLI2_uc002tmq.1_Missense_Mutation_p.D121N|GLI2_uc002tmr.1_Missense_Mutation_p.D104N|GLI2_uc002tmt.4_Missense_Mutation_p.D121N|GLI2_uc002tmu.4_Missense_Mutation_p.D104N|GLI2_uc010flo.1_Missense_Mutation_p.D307N|GLI2_uc002tmw.1_Missense_Mutation_p.D432N	NM_005270	NP_005261	P10070	GLI2_HUMAN	Homo sapiens GLI family zinc finger 2 (GLI2), mRNA.	449			D -> H (in dbSNP:rs13427953).		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)				CAAGGAGTACGACACCCAGGA	0.592000														34			7		0	0	0.00307968	0	0
GHITM	27069	broad.mit.edu	37	10	85912039	85912039	+	Missense_Mutation	SNP	G	A	A	rs143660911	by1000genomes	TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr10:85912039G>A	uc001kcs.1	+	8	1177	c.973G>A	c.(973-975)Gat>Aat	p.D325N	GHITM_uc010qma.1_Missense_Mutation_p.D256N|GHITM_uc010qmb.1_Missense_Mutation_p.D255N	NM_014394	NP_055209	Q9H3K2	GHITM_HUMAN	Homo sapiens growth hormone inducible transmembrane protein (GHITM), mRNA.	325					apoptosis	integral to membrane|mitochondrial inner membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(2)	10						TATCTACATGGATACATTAAA	0.333000														18			14		0	0	0.00400662	0	0
FOXK1	221937	broad.mit.edu	37	7	4798970	4798970	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:4798970C>T	uc003snc.1	+	6	1450	c.1440C>T	c.(1438-1440)atC>atT	p.I480I	FOXK1_uc003sna.1_Silent_p.I317I	NM_001037165	NP_001032242	P85037	FOXK1_HUMAN	Homo sapiens forkhead box K1 (FOXK1), mRNA.	480					cell differentiation|embryo development|muscle organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15)		AGCCAGTGATCATGGCCGTGC	0.746000														10			7		0	0	0.000978159	0	0
TPTE	7179	broad.mit.edu	37	21	10916422	10916422	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	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														137			10		0	0	0.000673444	0	0
SMARCA1	6594	broad.mit.edu	37	X	128605256	128605256	+	Silent	SNP	T	C	C			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chrX:128605256T>C	uc011muk.1	-	19	2603	c.2490A>G	c.(2488-2490)gaA>gaG	p.E830E	SMARCA1_uc004eun.4_Silent_p.E830E|SMARCA1_uc004eup.4_Silent_p.E818E|SMARCA1_uc011mul.1_Silent_p.E818E	NM_003069	NP_003060	P28370	SMCA1_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1 (SMARCA1), transcript variant 1, mRNA.	830					ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex	ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						TTTTTTGCTCTTCTCTTTGAG	0.343000														40			57		0	0	0.00361006	0	0
FLNC	2318	broad.mit.edu	37	7	128478071	128478071	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:128478071C>T	uc003vnz.4	+	5	1209	c.1000C>T	c.(1000-1002)Cgc>Tgc	p.R334C	FLNC_uc003voa.4_Missense_Mutation_p.R334C	NM_001458	NP_001449	Q14315	FLNC_HUMAN	Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA.	334					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						TGACAAGGATCGCACCTATGC	0.537000														45			29		0	0	0.00428921	0	0
ALG14	199857	broad.mit.edu	37	1	95538398	95538398	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:95538398G>A	uc001dra.2	-	0	110	c.57C>T	c.(55-57)atC>atT	p.I19I		NM_144988	NP_659425	Q96F25	ALG14_HUMAN	Homo sapiens asparagine-linked glycosylation 14 homolog (S. cerevisiae) (ALG14), mRNA.	19					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity			endometrium(2)|large_intestine(1)|lung(2)|pancreas(1)	6		all_lung(203;0.0232)|Lung NSC(277;0.0739)		all cancers(265;0.0615)|Epithelial(280;0.139)		ATATTCGCAGGATTAGGAAAA	0.587000														55			56		0	0	0.00361006	0	0
ANKIB1	54467	broad.mit.edu	37	7	91924316	91924316	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:91924316C>T	uc003ulw.2	+	1	400	c.24C>T	c.(22-24)ttC>ttT	p.F8F		NM_019004	NP_061877	Q9P2G1	AKIB1_HUMAN	Homo sapiens ankyrin repeat and IBR domain containing 1 (ANKIB1), mRNA.	8							protein binding|zinc ion binding			cervix(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(19)|skin(1)	41	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CCACCAAATTCCGTAAAGCAC	0.388000														13			4		0	0	0.00024832	0	0
FHOD1	29109	broad.mit.edu	37	16	67265199	67265199	+	Silent	SNP	C	T	T	rs143498229		TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr16:67265199C>T	uc002esl.3	-	16	2671	c.2559G>A	c.(2557-2559)acG>acA	p.T853T	FHOD1_uc010ced.3_Silent_p.T660T	NM_013241	NP_037373	Q9Y613	FHOD1_HUMAN	Homo sapiens formin homology 2 domain containing 1 (FHOD1), mRNA.	853	FH2.				actin cytoskeleton organization	cytoplasm|cytoskeleton|nucleus	actin binding			breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		GTCGACGCACCGTGTCCTTCA	0.587000														25			15		0	0	0.000566183	0	0
TEKT1	83659	broad.mit.edu	37	17	6722553	6722553	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr17:6722553C>T	uc002gdt.3	-	2	425	c.315G>A	c.(313-315)ttG>ttA	p.L105L	TEKT1_uc010vth.2_Intron	NM_053285	NP_444515	Q969V4	TEKT1_HUMAN	Homo sapiens tektin 1 (TEKT1), mRNA.	105					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20		Myeloproliferative disorder(207;0.0255)				AGGGCTCTTTCAAGGTCTCCA	0.438000														35			33		0	0	0.00428921	0	0
TSPAN9	10867	broad.mit.edu	37	12	3387672	3387672	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:3387672C>T	uc001qlp.3	+	3	332	c.149C>T	c.(148-150)tCg>tTg	p.S50L	TSPAN9_uc021qtd.1_Missense_Mutation_p.S50L	NM_006675	NP_006666	O75954	TSN9_HUMAN	Homo sapiens tetraspanin 9 (TSPAN9), transcript variant 1, mRNA.	50						integral to plasma membrane|membrane fraction		p.P49H(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(31;0.00153)|COAD - Colon adenocarcinoma(12;0.0831)			AGCTTCCCTTCGTTGTCTGCA	0.592000														50			23		0	0	0.00229938	0	0
DAPK2	23604	broad.mit.edu	37	15	64218270	64218270	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr15:64218270G>A	uc002amr.3	-	7	713	c.682C>T	c.(682-684)Ctg>Ttg	p.L228L	DAPK2_uc010uim.2_Non-coding_Transcript	NM_014326	NP_055141	Q9UIK4	DAPK2_HUMAN	Homo sapiens death-associated protein kinase 2 (DAPK2), mRNA.	228	Protein kinase.				apoptosis|induction of apoptosis|intracellular protein kinase cascade	cytoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|identical protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	11				LUAD - Lung adenocarcinoma(2;0.215)		GTGTCTCCCAGGAAAGGGGAT	0.502000														29			45		0	0	0.00361006	0	0
CXCR7	57007	broad.mit.edu	37	2	237489411	237489411	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:237489411G>A	uc021vys.1	+	0	303	c.303G>A	c.(301-303)gtG>gtA	p.V101V	CXCR7_uc010fyq.3_Silent_p.V101V|CXCR7_uc002vwd.3_Silent_p.V101V	NM_020311	NP_064707	P25106	CXCR7_HUMAN	Homo sapiens chemokine (C-X-C motif) receptor 7 (CXCR7), mRNA.	101					interspecies interaction between organisms	integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			central_nervous_system(1)|large_intestine(2)|skin(1)	4		Breast(86;0.000182)|Renal(207;0.00339)|all_hematologic(139;0.0048)|Acute lymphoblastic leukemia(138;0.0775)|Ovarian(221;0.089)|all_lung(227;0.147)|all_neural(83;0.223)		Epithelial(121;8.35e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.09e-11)|Kidney(56;1.11e-07)|KIRC - Kidney renal clear cell carcinoma(57;3.03e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000176)|Lung(119;0.00468)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.118)		CAGTCTGGGTGGTCAGTCTCG	0.552000														58			22		0	0	0.00332997	0	0
OR2B6	26212	broad.mit.edu	37	6	27925618	27925618	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:27925618C>T	uc011dkx.2	+	0	600	c.600C>T	c.(598-600)ttC>ttT	p.F200F		NM_012367	NP_036499	P58173	OR2B6_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily B, member 6 (OR2B6), mRNA.	200					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CTGAACTATTCCTTGTCAGTG	0.438000														115			30		0	0	0.00178596	0	0
MAGEE2	139599	broad.mit.edu	37	X	75004814	75004814	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chrX:75004814C>T	uc004ecj.2	-	0	266	c.73G>A	c.(73-75)Gaa>Aaa	p.E25K		NM_138703	NP_619648	Q8TD90	MAGE2_HUMAN	Homo sapiens melanoma antigen family E, 2 (MAGEE2), mRNA.	25										autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GCTTGTATTTCACCTCTGCCG	0.577000														9			8		0	0	0.000274275	0	0
ZFHX4	79776	broad.mit.edu	37	8	77767828	77767828	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr8:77767828G>A	uc003yau.2	+	9	9058	c.8671G>A	c.(8671-8673)Gac>Aac	p.D2891N	ZFHX4_uc003yaw.1_Missense_Mutation_p.D2846N	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	2846						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CATCACAGATGACCCGGATGA	0.493000										HNSCC(33;0.089)				41			11		0	0	0.00136819	0	0
EIF2B2	8892	broad.mit.edu	37	14	75475861	75475861	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr14:75475861A>T	uc001xrc.2	+	7	1108	c.1026A>T	c.(1024-1026)gaA>gaT	p.E342D		NM_014239	NP_055054	P49770	EI2BB_HUMAN	Homo sapiens eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa (EIF2B2), mRNA.	342					cellular response to stimulus|myelination|oligodendrocyte development|ovarian follicle development|regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex	ATP binding|GTP binding|protein binding|translation initiation factor activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(234;0.00661)		TGATGAGTGAACTCTACCATC	0.473000														63			48		0	0	0.00361006	0	0
PID1	55022	broad.mit.edu	37	2	230020561	230020561	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:230020561C>T	uc002vpr.4	-	1	287	c.249G>A	c.(247-249)atG>atA	p.M83I	PID1_uc002vps.4_Missense_Mutation_p.M81I|PID1_uc002vpt.4_Missense_Mutation_p.M50I|PID1_uc002vpu.4_Intron	NM_001100818	NP_001094288	Q7Z2X4	PCLI1_HUMAN	Homo sapiens phosphotyrosine interaction domain containing 1 (PID1), transcript variant 2, mRNA.	83						cytoplasm				breast(4)|endometrium(3)|large_intestine(5)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171)		Epithelial(121;3.08e-11)|all cancers(144;2.28e-08)|LUSC - Lung squamous cell carcinoma(224;0.0145)|Lung(261;0.0189)		TCCTTGTCTTCATCAGCGGTG	0.522000														54			21		0	0	0.00395357	0	0
PLA2G4E	123745	broad.mit.edu	37	15	42279469	42279469	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr15:42279469G>A	uc021sjp.1	-	16	1936	c.1936C>T	c.(1936-1938)Ctt>Ttt	p.L646F	PLA2G4E_uc010udc.2_Missense_Mutation_p.L89F|PLA2G4E_uc001zov.2_Missense_Mutation_p.L270F	NM_001206670	NP_001193599	Q3MJ16	PA24E_HUMAN	Homo sapiens phospholipase A2, group IVE (PLA2G4E), mRNA.	634	PLA2c.				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|stomach(1)	16		all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273)		OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06)		CGATGGGTAAGGATTTCTCGG	0.527000														9			17		0	0	0.000566183	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110476758	110476758	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr8:110476758A>G	uc003yne.3	+	48	7801	c.7697A>G	c.(7696-7698)aAc>aGc	p.N2566S		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	2566					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)			TGGGTCACCAACCCGAACAAT	0.478000										HNSCC(38;0.096)				43			9		0	0	0.000442599	0	0
SNCAIP	9627	broad.mit.edu	37	5	121759211	121759211	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:121759211A>T	uc003ksw.1	+	3	985	c.779A>T	c.(778-780)aAc>aTc	p.N260I	SNCAIP_uc011cwl.1_Intron|SNCAIP_uc010jct.3_Missense_Mutation_p.N260I|SNCAIP_uc003ksy.1_Intron|SNCAIP_uc003ksx.1_Missense_Mutation_p.N307I|SNCAIP_uc003ksz.1_Intron|SNCAIP_uc010jcu.2_Intron|SNCAIP_uc011cwm.1_Intron|SNCAIP_uc003kta.1_Intron|SNCAIP_uc010jcv.1_Non-coding_Transcript|SNCAIP_uc010jcw.1_Intron|SNCAIP_uc010jcx.1_Missense_Mutation_p.N260I	NM_005460	NP_005451	Q9Y6H5	SNCAP_HUMAN	Homo sapiens synuclein, alpha interacting protein (SNCAIP), transcript variant 1, mRNA.	260					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		GACTTCCTAAACAAGACATTT	0.473000														28			12		0	0	0.000978159	0	0
OR13C3	138803	broad.mit.edu	37	9	107298917	107298917	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr9:107298917G>A	uc004bcb.1	-	0	178	c.178C>T	c.(178-180)Ctc>Ttc	p.L60F		NM_001001961	NP_001001961	Q8NGS6	O13C3_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 3 (OR13C3), mRNA.	60					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(1)|skin(1)	19						ACTAGAATGAGAGCAAAGTAA	0.383000														40			26		0	0	0.00209593	0	0
ACP2	53	broad.mit.edu	37	11	47270236	47270236	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:47270236G>A	uc001nei.3	-	0	222	c.105C>T	c.(103-105)ttC>ttT	p.F35F	ACP2_uc010rhe.2_5'Flank|ACP2_uc009ylj.3_5'UTR|ACP2_uc010rhf.2_Silent_p.F35F|ACP2_uc010rhg.2_Silent_p.F35F|ACP2_uc010rhh.2_5'UTR|ACP2_uc009ylk.2_Silent_p.F35F|ACP2_uc010rhi.1_5'UTR|ACP2_uc010rhj.1_Silent_p.F35F|NR1H3_uc010rhk.2_5'UTR|NR1H3_uc009yll.2_5'UTR|NR1H3_uc001nek.3_5'Flank	NM_001610	NP_001601	P11117	PPAL_HUMAN	Homo sapiens acid phosphatase 2, lysosomal (ACP2), transcript variant 1, mRNA.	35						integral to membrane|lysosomal lumen|lysosomal membrane	acid phosphatase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)	10						CCAAGGTAACGAAGCGCAGAC	0.632000														14			5		0	0	0.00198382	0	0
MLL5	55904	broad.mit.edu	37	7	104722179	104722179	+	Nonsense_Mutation	SNP	T	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:104722179T>A	uc003vcm.3	+	12	1827	c.1293T>A	c.(1291-1293)taT>taA	p.Y431*	MLL5_uc010lja.1_Nonsense_Mutation_p.Y285*|MLL5_uc010ljb.1_Nonsense_Mutation_p.Y431*|MLL5_uc003vcl.3_Nonsense_Mutation_p.Y431*|MLL5_uc010ljc.3_Nonsense_Mutation_p.Y431*|MLL5_uc003vco.1_Non-coding_Transcript|MLL5_uc010ljd.1_Nonsense_Mutation_p.Y69*	NM_182931	NP_891847	Q8IZD2	MLL5_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila) (MLL5), transcript variant 1, mRNA.	431	SET.				DNA methylation|cell cycle arrest|cellular response to retinoic acid|erythrocyte differentiation|neutrophil activation|neutrophil mediated immunity|positive regulation of granulocyte differentiation|positive regulation of transcription, DNA-dependent|retinoic acid receptor signaling pathway|transcription, DNA-dependent	MLL5-L complex|nuclear speck	enzyme binding|histone methyltransferase activity (H3-K4 specific)|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(13)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	63						TTTATATTTATTCTATACACA	0.303000														93			45		0	0	0.00361006	0	0
MXRA5	25878	broad.mit.edu	37	X	3241590	3241590	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chrX:3241590C>T	uc004crg.4	-	4	2293	c.2136G>A	c.(2134-2136)agG>agA	p.R712R		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	712						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GCAGAAGTCTCCTTGAAGTGT	0.502000														13			27		0	0	0.00106085	0	0
AFF1	4299	broad.mit.edu	37	4	88055746	88055746	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr4:88055746C>T	uc011ccz.2	+	19	3710	c.3435C>T	c.(3433-3435)acC>acT	p.T1145T	AFF1_uc003hqj.4_Silent_p.T1137T|AFF1_uc003hqk.4_Silent_p.T1138T|AFF1_uc011cda.2_Silent_p.T776T	NM_001166693	NP_001160165	P51825	AFF1_HUMAN	Homo sapiens AF4/FMR2 family, member 1 (AFF1), transcript variant 1, mRNA.	1137						nucleus	sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		CCCCAGTCACCATCCAGAATA	0.552000														106			50		0	0	0.00361006	0	0
NOS1	4842	broad.mit.edu	37	12	117696204	117696204	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:117696204C>T	uc001twn.2	-	15	3240	c.2529G>A	c.(2527-2529)agG>agA	p.R843R	NOS1_uc021ren.1_Silent_p.R507R|NOS1_uc021reo.1_Silent_p.R507R|NOS1_uc001twm.2_Silent_p.R843R	NM_001204218	NP_001191147	P29475	NOS1_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA.	843	Flavodoxin-like.				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	FMN binding|NADP binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	TCACTTACTTCCTTTCTTCCT	0.493000														39			17		0	0	0.000958276	0	0
CLCN1	1180	broad.mit.edu	37	7	143017764	143017764	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:143017764C>T	uc003wcr.1	+	2	396	c.309C>T	c.(307-309)atC>atT	p.I103I	CLCN1_uc011ktc.1_5'UTR|CLCN1_uc003wcs.1_5'Flank|CLCN1_uc010lox.1_5'Flank|CLCN1_uc010loy.1_5'Flank	NM_000083	NP_000074	P35523	CLCN1_HUMAN	Homo sapiens chloride channel 1, skeletal muscle (CLCN1), mRNA.	103					muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					TAGATTGTATCCACCGCCTGG	0.438000														37			12		0	0	0.00136819	0	0
HSPA1L	3305	broad.mit.edu	37	6	31778985	31778985	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:31778985G>A	uc003nxh.3	-	1	948	c.765C>T	c.(763-765)atC>atT	p.I255I	HSPA1L_uc010jte.3_Silent_p.I255I|HSPA1L_uc021yuz.1_Silent_p.I255I	NM_005527	NP_005518	P34931	HS71L_HUMAN	Homo sapiens heat shock 70kDa protein 1-like (HSPA1L), mRNA.	255					response to unfolded protein		ATP binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						TGTTCTGGCTGATGTCCTTTT	0.587000														286			274		0	0	0.00361006	0	0
SELP	6403	broad.mit.edu	37	1	169582930	169582930	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:169582930G>A	uc001ggi.4	-	4	547	c.482_splice	c.e4-1	p.A161_splice	SELP_uc001ggh.3_Splice_Site|SELP_uc009wvr.3_Splice_Site_p.A161_splice	NM_003005	NP_002996	P16109	LYAM3_HUMAN	Homo sapiens selectin P (granule membrane protein 140kDa, antigen CD62) (SELP), mRNA.	161	EGF-like.				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	CCTGGCAGGAGGCTGCATAGA	0.507000														25			19		0	0	0.000958276	0	0
PCLO	27445	broad.mit.edu	37	7	82581416	82581416	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:82581416C>T	uc003uhx.2	-	4	9142	c.8853G>A	c.(8851-8853)agG>agA	p.R2951R	PCLO_uc003uhv.2_Silent_p.R2951R|PCLO_uc010lec.3_5'Flank	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	2882					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						CTGTGCAGCTCCTTCCAAATG	0.433000														78			42		0	0	0.00148497	0	0
TMEM119	338773	broad.mit.edu	37	12	108985675	108985675	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:108985675G>A	uc001tng.3	-	1	648	c.485C>T	c.(484-486)cCc>cTc	p.P162L	TMEM119_uc021rdl.1_Missense_Mutation_p.P162L	NM_181724	NP_859075	Q4V9L6	TM119_HUMAN	Homo sapiens transmembrane protein 119 (TMEM119), mRNA.	162						integral to membrane				large_intestine(2)|lung(3)|ovary(1)|skin(1)	7						GGCTTCCTCGGGCCTGCTGTC	0.692000														14			8		0	0	0.000978159	0	0
MACF1	23499	broad.mit.edu	37	1	39901420	39901420	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:39901420C>T	uc021olw.1	+	33	13295	c.13295C>T	c.(13294-13296)tCc>tTc	p.S4432F	MACF1_uc021ols.1_Missense_Mutation_p.S3930F|MACF1_uc001cdc.2_Missense_Mutation_p.S3800F|MACF1_uc021olt.1_Missense_Mutation_p.S3930F|MACF1_uc001cda.1_Missense_Mutation_p.S3817F	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.	6004					Golgi to plasma membrane protein transport|Wnt receptor signaling pathway|cell cycle arrest|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|wound healing	Golgi apparatus|microtubule|ruffle membrane	ATPase activity|actin filament binding|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GAAGCCGTGTCCCAGTCCACA	0.483000														41			39		0	0	0.00195071	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76569483	76569483	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr16:76569483C>T	uc002fex.1	+	16	2945	c.2806C>T	c.(2806-2808)Cgg>Tgg	p.R936W	CNTNAP4_uc002feu.1_Missense_Mutation_p.R932W|CNTNAP4_uc002fev.1_Missense_Mutation_p.R797W|CNTNAP4_uc010chb.1_Missense_Mutation_p.R860W	NM_033401	NP_207837	Q9C0A0	CNTP4_HUMAN	Homo sapiens contactin associated protein-like 4 (CNTNAP4), transcript variant 1, mRNA.	933	Laminin G-like 3.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						GGGCTGCATTCGGTCTCTGCA	0.493000														38			22		0	0	0.00332997	0	0
DYNLRB2	83657	broad.mit.edu	37	16	80583473	80583473	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr16:80583473C>T	uc002ffo.3	+	2	292	c.172C>T	c.(172-174)Cgt>Tgt	p.R58C	DYNLRB2_uc002ffp.3_Non-coding_Transcript|DYNLRB2_uc002ffq.3_Non-coding_Transcript	NM_130897	NP_570967	Q8TF09	DLRB2_HUMAN	Homo sapiens dynein, light chain, roadblock-type 2 (DYNLRB2), mRNA.	58					microtubule-based movement|transport	cytoplasmic dynein complex|microtubule	microtubule motor activity			large_intestine(1)|lung(4)|prostate(1)	6						AAGCACAGTTCGTGATATTGA	0.403000														26			9		0	0	0.000442599	0	0
DDX43	55510	broad.mit.edu	37	6	74115448	74115448	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:74115448A>G	uc003pgw.3	+	5	1041	c.697A>G	c.(697-699)Aaa>Gaa	p.K233E	DDX43_uc011dyn.1_Non-coding_Transcript	NM_018665	NP_061135	Q9NXZ2	DDX43_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 43 (DDX43), mRNA.	233						intracellular	ATP binding|ATP-dependent RNA helicase activity|RNA binding			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						GGATGGGGAGAAACGACCTAT	0.393000														24			6		0	0	0.00198382	0	0
CEP70	80321	broad.mit.edu	37	3	138219316	138219317	+	Silent	DNP	GG	TT	TT			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:138219316_138219317GG>TT	uc003esl.3	-	14	1659_1660	c.1461_1462CC>AA	c.(1459-1464)ccccga>ccAAga	p.487_488PR>PR	CEP70_uc011bmk.2_Silent_p.467_468PR>PR|CEP70_uc011bml.2_Silent_p.469_470PR>PR|CEP70_uc011bmm.2_Silent_p.335_336PR>PR|CEP70_uc003esm.3_Silent_p.487_488PR>PR	NM_024491	NP_077817	Q8NHQ1	CEP70_HUMAN	Homo sapiens centrosomal protein 70kDa (CEP70), mRNA.	487					G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding	p.R488R(2)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	24						TCATTCATTCGGGGATAGACTC	0.376000														586			14		0	0	6.4e-05	0	0
HEPH	9843	broad.mit.edu	37	X	65413365	65413365	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chrX:65413365G>A	uc011moz.2	+	7	1553	c.1416G>A	c.(1414-1416)caG>caA	p.Q472Q	HEPH_uc004dwn.3_Silent_p.Q421Q|HEPH_uc004dwo.3_Silent_p.Q151Q|HEPH_uc010nkr.3_Silent_p.Q421Q|HEPH_uc011mpa.2_Silent_p.Q421Q	NM_138737	NP_055614	Q9BQS7	HEPH_HUMAN	Homo sapiens hephaestin (HEPH), transcript variant 1, mRNA.	418	Plastocyanin-like 3.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						AGTTTTTCCAGAAGAGCTCCA	0.398000														12			6		0	0	0.00307968	0	0
CHAT	1103	broad.mit.edu	37	10	50828588	50828588	+	Silent	SNP	C	T	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr10:50828588C>T	uc001jhz.2	+	3	780	c.627C>T	c.(625-627)gcC>gcT	p.A209A	CHAT_uc001jhv.1_Silent_p.A91A|CHAT_uc001jhx.1_Silent_p.A91A|CHAT_uc001jhy.1_Silent_p.A91A|CHAT_uc001jia.2_Silent_p.A127A|CHAT_uc010qgs.1_Silent_p.A91A	NM_020549	NP_066266	P28329	CLAT_HUMAN	Homo sapiens choline O-acetyltransferase (CHAT), transcript variant M, mRNA.	209					neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)	ACCGCCTGGCCCTGCCTGTCA	0.602000														23			22		0	0	0.00152264	0	0
SMYD3	64754	broad.mit.edu	37	1	246078853	246078853	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:246078853G>A	uc001ibl.3	-	7	917	c.792C>T	c.(790-792)ttC>ttT	p.F264F	SMYD3_uc001ibk.3_Silent_p.F205F|SMYD3_uc001ibj.3_Silent_p.F75F	NM_001167740	NP_073580	Q9H7B4	SMYD3_HUMAN	Homo sapiens SET and MYND domain containing 3 (SMYD3), transcript variant 1, mRNA.	264						cytoplasm|nucleus	histone-lysine N-methyltransferase activity|protein binding|zinc ion binding			breast(3)|large_intestine(5)|lung(8)|skin(1)	17	all_cancers(71;0.000291)|all_epithelial(71;0.000174)|Ovarian(71;0.0377)|all_lung(81;0.0568)|Lung NSC(105;0.0804)|Breast(184;0.173)|Melanoma(84;0.242)	all_cancers(173;0.0496)|Acute lymphoblastic leukemia(190;0.164)	OV - Ovarian serous cystadenocarcinoma(106;0.0129)	all cancers(4;0.028)|GBM - Glioblastoma multiforme(49;0.0537)		TTTGGCAACGGAAACAGTCAC	0.498000														57			19		0	0	0.00121646	0	0
FAT4	79633	broad.mit.edu	37	4	126411357	126411357	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr4:126411357G>A	uc003ifj.4	+	16	13380	c.13380G>A	c.(13378-13380)agG>agA	p.R4460R	FAT4_uc011cgp.2_Silent_p.R2701R|FAT4_uc003ifi.1_Silent_p.R1937R	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	4460	EGF-like 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						ACACGGGAAGGACCTGTGAGA	0.627000														36			17		0	0	0.00400662	0	0
ZNF346	23567	broad.mit.edu	37	5	176471497	176471497	+	Silent	SNP	G	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:176471497G>A	uc003mfk.1	+	4	598	c.555G>A	c.(553-555)aaG>aaA	p.K185K	ZNF346_uc003mfi.3_Silent_p.K160K|ZNF346_uc011dfr.2_Silent_p.K128K|ZNF346_uc011dfs.2_Intron|ZNF346_uc011dft.1_Intron	NM_012279	NP_036411	Q9UL40	ZN346_HUMAN	Homo sapiens zinc finger protein 346 (ZNF346), mRNA.	160						cytoplasm|nucleolus	double-stranded RNA binding|zinc ion binding	p.D184Y(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1)	14	all_cancers(89;6.3e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806)	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)			CCCACGCAAAGAACTTAAAGC	0.547000														75			21		0	0	0.00332997	0	0
PIP5K1A	8394	broad.mit.edu	37	1	151204160	151204160	+	Frame_Shift_Del	DEL	C	-	-			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:151204160delC	uc001exj.3	+	4	703	c.251delC	c.(250-252)gccfs	p.A84fs	PIP5K1A_uc021oyo.1_Frame_Shift_Del_p.A72fs|PIP5K1A_uc001exi.3_Frame_Shift_Del_p.A71fs|PIP5K1A_uc010pcu.2_Frame_Shift_Del_p.A72fs|PIP5K1A_uc001exk.3_Frame_Shift_Del_p.A71fs|PIP5K1A_uc010pcv.2_5'Flank	NM_001135638	NP_001129110	Q99755	PI51A_HUMAN	Homo sapiens phosphatidylinositol-4-phosphate 5-kinase, type I, alpha (PIP5K1A), transcript variant 1, mRNA.	84	PIPK.				phospholipid biosynthetic process|signal transduction	Golgi stack|endomembrane system|lamellipodium|nuclear speck	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|kinase binding			breast(1)|central_nervous_system(1)|ovary(1)|skin(1)|stomach(1)	5	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;0.181)			ACCTCATCAGCCTTGAAAGGT	0.433													---	63	---	---	22	---					
CEP350	9857	broad.mit.edu	37	1	179983057	179983065	+	In_Frame_Del	DEL	GTTCGAGAA	-	-			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:179983057_179983065delGTTCGAGAA	uc001gnt.3	+	9	1852_1860	c.1469_1477delGTTCGAGAA	c.(1468-1479)cgttcgagaagt>cgt	p.SRS491del	CEP350_uc009wxl.2_In_Frame_Del_p.SRS490del|CEP350_uc001gnu.3_In_Frame_Del_p.SRS325del	NM_014810	NP_055625	Q5VT06	CE350_HUMAN	Homo sapiens centrosomal protein 350kDa (CEP350), mRNA.	491						centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						AACTCAGAACGTTCGAGAAGTAAATCTCG	0.373													---	71	---	---	22	---					
TTN	7273	broad.mit.edu	37	2	179439386	179439393	+	Frame_Shift_Del	DEL	TAAATGGA	-	-			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:179439386_179439393delTAAATGGA	uc021vsy.1	-	274	63987_63994	c.63762_63769delTCCATTTA	c.(63760-63771)tatccatttaagfs	p.Y21254fs	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Frame_Shift_Del_p.Y14949fs|TTN_uc021vta.1_Frame_Shift_Del_p.Y14882fs|TTN_uc021vtb.1_Frame_Shift_Del_p.Y14757fs	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	22181	Fibronectin type-III 54.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCAGGAACCTTAAATGGATAGTTGGCAA	0.471													---	56	---	---	16	---					
SLC25A2	83884	broad.mit.edu	37	5	140682838	140682839	+	Frame_Shift_Ins	INS	-	A	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:140682838_140682839insA	uc003ljf.3	-	0	774_775	c.594_595insT	c.(592-597)tttgcgfs	p.F198fs		NM_031947	NP_114153	Q9BXI2	ORNT2_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 2 (SLC25A2), nuclear gene encoding mitochondrial protein, mRNA.	198					mitochondrial ornithine transport|urea cycle	integral to membrane|mitochondrial inner membrane	L-ornithine transmembrane transporter activity	p.A199V(1)		breast(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(500;0.000249)|Lung NSC(810;0.0011)|Ovarian(839;0.00556)|Breast(839;0.0173)|all_hematologic(541;0.152)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00204)	L-Ornithine(DB00129)	CTCCCTGACGCAAAAAACGATC	0.475													---	100	---	---	31	---					
FKBPL	63943	broad.mit.edu	37	6	32097086	32097086	+	Frame_Shift_Del	DEL	C	-	-			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:32097086delC	uc003nzr.3	-	1	742	c.472delG	c.(472-474)gagfs	p.E158fs	ATF6B_uc003nzn.3_5'Flank|ATF6B_uc003nzo.3_5'Flank|ATF6B_uc011dpg.2_5'Flank|ATF6B_uc011dph.2_5'Flank|FKBPL_uc021yvh.1_Frame_Shift_Del_p.E158fs	NM_022110	NP_071393	Q9UIM3	FKBPL_HUMAN	Homo sapiens FK506 binding protein like (FKBPL), mRNA.	158					response to radiation	membrane|nucleus	FK506 binding|peptidyl-prolyl cis-trans isomerase activity										TCTATGAGCTCCCCCCAAGTT	0.587													---	776	---	---	7	---					
B2M	567	broad.mit.edu	37	15	45003781	45003784	+	Frame_Shift_Del	DEL	CTCT	-	-			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr15:45003781_45003784delCTCT	uc001zuc.3	+	0	97_100	c.37_40delCTCT	c.(37-42)ctctctfs	p.L13fs	B2M_uc010uek.1_Frame_Shift_Del_p.L13fs|B2M_uc010bdx.1_Frame_Shift_Del_p.L13fs	NM_004048	NP_004039	P61769	B2MG_HUMAN	Homo sapiens beta-2-microglobulin (B2M), mRNA.	13					antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of defense response to virus by virus|viral reproduction	Golgi membrane|MHC class I protein complex|early endosome membrane	protein binding	p.L15fs*41(4)|p.L13F(2)|p.L12Q(1)|p.A11fs*42(1)		breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(30)|kidney(8)|large_intestine(6)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	59		all_cancers(109;1.88e-13)|all_epithelial(112;2.13e-11)|Lung NSC(122;2.22e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;4.16e-21)|GBM - Glioblastoma multiforme(94;8.97e-07)|COAD - Colon adenocarcinoma(120;0.0357)|Colorectal(105;0.0377)|Lung(196;0.0903)|LUSC - Lung squamous cell carcinoma(244;0.192)		GCTCGCGCTACTCTCTCTTTCTGG	0.613													---	29	---	---	18	---					
WFIKKN1	117166	broad.mit.edu	37	16	683416	683416	+	Frame_Shift_Del	DEL	G	-	-			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr16:683416delG	uc002cht.1	+	1	1248	c.1006delG	c.(1006-1008)gggfs	p.G336fs	AK128777_uc002chs.1_3'UTR	NM_053284	NP_444514	Q96NZ8	WFKN1_HUMAN	Homo sapiens WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 1 (WFIKKN1), mRNA.	336	BPTI/Kunitz inhibitor 1.					extracellular region	metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|prostate(1)|upper_aerodigestive_tract(1)	4		Hepatocellular(780;0.00335)				TGGCTGTGATGGGGCGGCCCG	0.736													---	4	---	---	2	---					
EFTUD2	9343	broad.mit.edu	37	17	42932017	42932017	+	Frame_Shift_Del	DEL	G	-	-			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr17:42932017delG	uc002ihn.2	-	21	2427	c.2166delC	c.(2164-2166)tacfs	p.Y722fs	EFTUD2_uc010wje.1_Frame_Shift_Del_p.Y687fs|EFTUD2_uc010wjf.1_Frame_Shift_Del_p.Y712fs	NM_004247	NP_001136077	Q15029	U5S1_HUMAN	Homo sapiens elongation factor Tu GTP binding domain containing 2 (EFTUD2), transcript variant 1, mRNA.	722						Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck	GTP binding|GTPase activity|protein binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32		Prostate(33;0.109)				GATCCCAATCGTACTTGGTCT	0.572													---	56	---	---	40	---					
TP53INP2	58476	broad.mit.edu	37	20	33296571	33296571	+	Frame_Shift_Del	DEL	T	-	-			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr20:33296571delT	uc002xau.1	+	2	363	c.28delT	c.(28-30)ttcfs	p.F10fs	TP53INP2_uc021wcc.1_5'Flank	NM_021202	NP_067025	Q8IXH6	T53I2_HUMAN	Homo sapiens tumor protein p53 inducible nuclear protein 2 (TP53INP2), mRNA.	10						nucleus				endometrium(1)|urinary_tract(1)	2						CAGCCTCTTCTTCAGCACCCC	0.652													---	4	---	---	2	---					
AP1S2	8905	broad.mit.edu	37	X	15845465	15845465	+	Frame_Shift_Del	DEL	C	-	-			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chrX:15845465delC	uc010nex.3	-	5	756	c.592delG	c.(592-594)gaafs	p.E198fs	AP1S2_uc004cxh.3_3'UTR|AP1S2_uc004cxi.3_Frame_Shift_Del_p.E153fs	NM_003916	NP_003907	P56377	AP1S2_HUMAN	Homo sapiens adaptor-related protein complex 1, sigma 2 subunit (AP1S2), mRNA.	153					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	AP-type membrane coat adaptor complex|Golgi membrane|coated pit|cytoplasmic vesicle membrane|cytosol|lysosomal membrane	protein transporter activity			large_intestine(1)	1	Hepatocellular(33;0.183)					AGTCCAATTTCTTCAAGAACA	0.453													---	28	---	---	55	---					
